SETD2 c.5885C>T ;(p.P1962L)

Variant ID: 3-47125385-G-A

NM_014159.6(SETD2):c.5885C>T;(p.P1962L)

This variant was identified in 74 publications

View GRCh38 version.




Publications:


Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications
Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA
Publication Date: 2023-04-03

Variant appearance in text: SETD2: P1962L
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 3
View BVdb publication page



Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Nature
Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D
Publication Date: 2023-02-08

Variant appearance in text: N/A
PubMed Link: 36755093
Variant Present in the following documents:
View BVdb publication page



Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: SETD2: P1962L; rs4082155
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



JAK-STAT signaling in inflammatory breast cancer enables chemotherapy-resistant cell states.

Cancer Research
Stevens, Laura E LE; Peluffo, Guillermo G; Qiu, Xintao X; Temko, Daniel D; Fassl, Anne A; Li, Zheqi Z; Trinh, Anne A; Seehawer, Marco M; Jovanovic, Bojana B; Aleckovic, Masa M; Wilde, Callahan M CM; Geck, Renee C RC; Shu, Shaokun S; Kingston, Natalie L NL; Harper, Nicholas W NW; Almendro, Vanessa V; Pyke, Alanna L AL; Egri, Shawn B SB; Papanastasiou, Malvina M; Clement, Kendell K; Zhou, Ningxuan N; Walker, Sarah S; Salas, Jacqueline J; Park, So Yeon SY; Frank, David A DA; Meissner, Alexander A; Jaffe, Jacob D JD; Sicinski, Piotr P; Toker, Alex A; Michor, Franziska F; Long, Henry W HW; Overmoyer, Beth A BA; Polyak, Kornelia K
Publication Date: 2022-11-21

Variant appearance in text: SETD2: 5885C>T; P1962L; rs4082155
PubMed Link: 36409824
Variant Present in the following documents:
  • can-22-0423_supplementary_table_s3_suppst3.xlsx, sheet 1
View BVdb publication page



Utilization of cytologic cell blocks for targeted sequencing of solid tumors.

Cancer Medicine
Vormittag-Nocito, Erica E; Kumar, Ravindra R; Narayan, Kunwar Digvijay KD; Chen, Zhengjia Z; David, Odile O; Behm, Frederick F; Mohapatra, Gayatry G
Publication Date: 2022-09-20

Variant appearance in text: SETD2: P1962L
PubMed Link: 36125633
Variant Present in the following documents:
  • Main text
  • CAM4-12-4042-s001.xlsx, sheet 1
  • CAM4-12-4042.pdf
View BVdb publication page



Generation of patient-derived models from a metastatic pediatric diffuse leptomeningeal glioneuronal tumor with KIAA1549::BRAF fusion.

Acta Neuropathologica
Messiaen, Julie J; Claeys, Annelies A; Shetty, Aniket A; Spans, Lien L; Derweduwe, Marleen M; Uyttebroeck, Anne A; Depreitere, Bart B; Vanden Bempt, Isabelle I; Sciot, Raf R; Ligon, Keith L KL; Jones, David T W DTW; Jacobs, Sandra A SA; De Smet, Frederik F
Publication Date: 2022-10

Variant appearance in text: SETD2: 5885C>T; P1962L; rs4082155
PubMed Link: 35925403
Variant Present in the following documents:
  • 401_2022_2473_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Integrated DNA and RNA Sequencing Reveals Drivers of Endocrine Resistance in Estrogen Receptor-Positive Breast Cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Xia, Youli Y; He, Xiaping X; Renshaw, Lorna L; Martinez-Perez, Carlos C; Kay, Charlene C; Gray, Mark M; Meehan, James J; Parker, Joel S JS; Perou, Charles M CM; Carey, Lisa A LA; Dixon, J Michael JM; Turnbull, Arran A
Publication Date: 2022-08-15

Variant appearance in text: SETD2: P1962L; rs4082155
PubMed Link: 35653148
Variant Present in the following documents:
  • ccr-21-3189_supplementary_tables_ts1-9_suppts1-9.xlsx, sheet 5
View BVdb publication page



Double-layer omics analysis of castration- and X-ray-resistant prostate cancer cells.

Journal Of Radiation Research
Iwanaga, Mototaro M; Kawamura, Hidemasa H; Kubo, Nobuteru N; Mizukami, Tatsuji T; Oike, Takahiro T; Sato, Hiro H; Miyazawa, Yoshiyuki Y; Sekine, Yoshitaka Y; Kawabata-Iwakawa, Reika R; Nishiyama, Masahiko M; Ohno, Tatsuya T; Nakano, Takashi T
Publication Date: 2022-07-19

Variant appearance in text: SETD2: 5885C>T; Pro1962Leu; rs4082155
PubMed Link: 35589101
Variant Present in the following documents:
  • s1_table_rrac022.xlsx, sheet 1
View BVdb publication page



Monitoring of Leukemia Clones in B-cell Acute Lymphoblastic Leukemia at Diagnosis and During Treatment by Single-cell DNA Amplicon Sequencing.

Hemasphere
Meyers, Sarah S; Alberti-Servera, Llucia L; Gielen, Olga O; Erard, Margot M; Swings, Toon T; De Bie, Jolien J; Michaux, Lucienne L; Dewaele, Barbara B; Boeckx, Nancy N; Uyttebroeck, Anne A; De Keersmaecker, Kim K; Maertens, Johan J; Segers, Heidi H; Cools, Jan J; Demeyer, Sofie S
Publication Date: 2022-04

Variant appearance in text: SETD2: 5885C>T; P1962L; rs4082155
PubMed Link: 35291210
Variant Present in the following documents:
  • hs9-6-e700-s004.xlsx, sheet 8
  • hs9-6-e700-s004.xlsx, sheet 13
  • hs9-6-e700-s004.xlsx, sheet 9
  • hs9-6-e700-s004.xlsx, sheet 2
  • hs9-6-e700-s004.xlsx, sheet 4
  • hs9-6-e700-s004.xlsx, sheet 12
  • hs9-6-e700-s004.xlsx, sheet 7
  • hs9-6-e700-s004.xlsx, sheet 11
  • hs9-6-e700-s004.xlsx, sheet 3
  • hs9-6-e700-s004.xlsx, sheet 5
View BVdb publication page



Multiomics Landscape Uncovers the Molecular Mechanism of the Malignant Evolution of Lung Adenocarcinoma Cells to Chronic Low Dose Cadmium Exposure.

Frontiers In Oncology
Dai, Shun-Dong SD; Wang, Shuang S; Qin, Ya-Nan YN; Zhu, Jin-Chao JC
Publication Date: 2021

Variant appearance in text: SETD2: P1962L
PubMed Link: 34858801
Variant Present in the following documents:
  • Table_1.xls, sheet 1
View BVdb publication page



Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics
Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F
Publication Date: 2021

Variant appearance in text: SETD2: 5885C>T; P1962L; rs4082155
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Communications Biology
Nagasawa, Satoi S; Kuze, Yuta Y; Maeda, Ichiro I; Kojima, Yasuyuki Y; Motoyoshi, Ai A; Onishi, Tatsuya T; Iwatani, Tsuguo T; Yokoe, Takamichi T; Koike, Junki J; Chosokabe, Motohiro M; Kubota, Manabu M; Seino, Hibiki H; Suzuki, Ayako A; Seki, Masahide M; Tsuchihara, Katsuya K; Inoue, Eisuke E; Tsugawa, Koichiro K; Ohta, Tomohiko T; Suzuki, Yutaka Y
Publication Date: 2021-04-01

Variant appearance in text: SETD2: P1962L; rs4082155
PubMed Link: 33795819
Variant Present in the following documents:
  • 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology
Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA
Publication Date: 2021

Variant appearance in text: SETD2: Pro1962Leu; rs4082155
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Plos One
Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S
Publication Date: 2021

Variant appearance in text: SETD2: 5885C>T; P1962L; rs4082155
PubMed Link: 33770142
Variant Present in the following documents:
  • pone.0249324.s003.xlsx, sheet 3
  • pone.0249324.s003.xlsx, sheet 1
  • pone.0249324.s003.xlsx, sheet 2
View BVdb publication page



A bladder cancer patient-derived xenograft displays aggressive growth dynamics in vivo and in organoid culture.

Scientific Reports
Cai, Elise Y EY; Garcia, Jose J; Liu, Yuzhen Y; Vakar-Lopez, Funda F; Arora, Sonali S; Nguyen, Holly M HM; Lakely, Bryce B; Brown, Lisha L; Wong, Alicia A; Montgomery, Bruce B; Lee, John K JK; Corey, Eva E; Wright, Jonathan L JL; Hsieh, Andrew C AC; Lam, Hung-Ming HM
Publication Date: 2021-02-25

Variant appearance in text: SETD2: P1962L
PubMed Link: 33633154
Variant Present in the following documents:
  • Main text
  • 41598_2021_Article_83662.pdf
View BVdb publication page



Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications
Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q
Publication Date: 2021-01-04

Variant appearance in text: SETD2: 5885C>T; P1962L
PubMed Link: 33397889
Variant Present in the following documents:
  • 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Proteogenomic Landscape of Breast Cancer Tumorigenesis and Targeted Therapy.

Cell
Krug, Karsten K; Jaehnig, Eric J EJ; Satpathy, Shankha S; Blumenberg, Lili L; Karpova, Alla A; Anurag, Meenakshi M; Miles, George G; Mertins, Philipp P; Geffen, Yifat Y; Tang, Lauren C LC; Heiman, David I DI; Cao, Song S; Maruvka, Yosef E YE; Lei, Jonathan T JT; Huang, Chen C; Kothadia, Ramani B RB; Colaprico, Antonio A; Birger, Chet C; Wang, Jarey J; Dou, Yongchao Y; Wen, Bo B; Shi, Zhiao Z; Liao, Yuxing Y; Wiznerowicz, Maciej M; Wyczalkowski, Matthew A MA; Chen, Xi Steven XS; Kennedy, Jacob J JJ; Paulovich, Amanda G AG; Thiagarajan, Mathangi M; Kinsinger, Christopher R CR; Hiltke, Tara T; Boja, Emily S ES; Mesri, Mehdi M; Robles, Ana I AI; Rodriguez, Henry H; Westbrook, Thomas F TF; Ding, Li L; Getz, Gad G; Clauser, Karl R KR; Fenyö, David D; Ruggles, Kelly V KV; Zhang, Bing B; Mani, D R DR; Carr, Steven A SA; Ellis, Matthew J MJ; Gillette, Michael A MA; ,
Publication Date: 2020-11-25

Variant appearance in text: SETD2: P1962L
PubMed Link: 33212010
Variant Present in the following documents:
  • NIHMS1687926-supplement-Supplemental_Table_3.xlsx, sheet 5
View BVdb publication page



Usefulness of a novel device to divide core needle biopsy specimens in a spatially matched fashion.

Scientific Reports
Shiraishi, Takumi T; Inui, Shogo S; Inoue, Yuta Y; Saito, Yumiko Y; Taga, Hideto H; Kaneko, Masatomo M; Tsuji, Keisuke K; Ueda, Saya S; Ueda, Takashi T; Matsugasumi, Toru T; Taniguchi, Hidefumi H; Ueno, Akihisa A; Yamada, Takeshi T; Yamada, Yasuhiro Y; Iwata, Tsuyoshi T; Fujihara, Atsuko A; Hongo, Fumiya F; Ukimura, Osamu O
Publication Date: 2020-10-13

Variant appearance in text: SETD2: 5885C>T; Pro1962Leu; rs4082155
PubMed Link: 33051506
Variant Present in the following documents:
  • 41598_2020_74136_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



SET Domain Containing 2 Deficiency in Myelodysplastic Syndrome.

Frontiers In Genetics
Li, Jiaming J; Peng, Zhenping Z; Luo, Fangxiu F; Chen, Yu Y
Publication Date: 2020

Variant appearance in text: SETD2: P1962L
PubMed Link: 32849799
Variant Present in the following documents:
  • Main text
  • Presentation_1.pdf
  • fgene-11-00794.pdf
View BVdb publication page



Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis
Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q
Publication Date: 2020-09

Variant appearance in text: SETD2: P1962L; rs4082155
PubMed Link: 32529721
Variant Present in the following documents:
  • JCLA-34-e23418-s003.xls, sheet 1
View BVdb publication page



Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology
Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF
Publication Date: 2020-04-20

Variant appearance in text: rs4082155
PubMed Link: 32313182
Variant Present in the following documents:
  • 42003_2020_885_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.

Journal Of Cellular And Molecular Medicine
Wu, Nan N; Zhang, Zhen Z; Zhou, Xi X; Zhao, Hengqiang H; Ming, Yue Y; Wu, Xue X; Zhang, Xian X; Yang, Xin-Zhuang XZ; Zhou, Meng M; Bao, Hua H; Chen, Weisheng W; Wu, Yong Y; Liu, Sen S; Wang, Huizi H; Niu, Yuchen Y; Li, Yalun Y; Zheng, Yu Y; Shao, Yang Y; Gao, Na N; Yang, Ying Y; Liu, Ying Y; Li, Wenli W; Liu, Jia J; Zhang, Na N; Yang, Xu X; Xu, Yuan Y; Li, Mei M; Sun, Yingli Y; Su, Jianzhong J; Zhang, Jianguo J; Xia, Weibo W; Qiu, Guixing G; Liu, Yong Y; Liu, Jiaqi J; Wu, Zhihong Z
Publication Date: 2020-05

Variant appearance in text: SETD2: 5885C>T; Pro1962Leu
PubMed Link: 32277576
Variant Present in the following documents:
  • JCMM-24-4931-s010.xlsx, sheet 1
View BVdb publication page



Cancer neoantigen prioritization through sensitive and reliable proteogenomics analysis.

Nature Communications
Wen, Bo B; Li, Kai K; Zhang, Yun Y; Zhang, Bing B
Publication Date: 2020-04-09

Variant appearance in text: SETD2: P1962L
PubMed Link: 32273506
Variant Present in the following documents:
  • 41467_2020_15456_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



YAP1 mediates survival of ALK-rearranged lung cancer cells treated with alectinib via pro-apoptotic protein regulation.

Nature Communications
Tsuji, Takahiro T; Ozasa, Hiroaki H; Aoki, Wataru W; Aburaya, Shunsuke S; Yamamoto Funazo, Tomoko T; Furugaki, Koh K; Yoshimura, Yasushi Y; Yamazoe, Masatoshi M; Ajimizu, Hitomi H; Yasuda, Yuto Y; Nomizo, Takashi T; Yoshida, Hironori H; Sakamori, Yuichi Y; Wake, Hiroaki H; Ueda, Mitsuyoshi M; Kim, Young Hak YH; Hirai, Toyohiro T
Publication Date: 2020-01-03

Variant appearance in text: SETD2: P1962L
PubMed Link: 31900393
Variant Present in the following documents:
  • 41467_2019_13771_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



The role of myoglobin in epithelial cancers: Insights from transcriptomics.

International Journal Of Molecular Medicine
Bicker, Anne A; Nauth, Theresa T; Gerst, Daniela D; Aboouf, Mostafa Ahmed MA; Fandrey, Joachim J; Kristiansen, Glen G; Gorr, Thomas Alexander TA; Hankeln, Thomas T
Publication Date: 2020-02

Variant appearance in text: SETD2: Pro1962Leu
PubMed Link: 31894249
Variant Present in the following documents:
  • Supplementary_Data2.xlsx, sheet 11
  • Supplementary_Data2.xlsx, sheet 5
  • Supplementary_Data2.xlsx, sheet 6
  • Supplementary_Data2.xlsx, sheet 9
  • Supplementary_Data2.xlsx, sheet 10
View BVdb publication page



Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09

Variant appearance in text: SETD2: P1962L; rs4082155
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT.

Acta Neuropathologica Communications
Jungwirth, Gerhard G; Warta, Rolf R; Beynon, Christopher C; Sahm, Felix F; von Deimling, Andreas A; Unterberg, Andreas A; Herold-Mende, Christel C; Jungk, Christine C
Publication Date: 2019-08-30

Variant appearance in text: SETD2: P1962L; rs4082155
PubMed Link: 31470906
Variant Present in the following documents:
  • 40478_2019_793_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



Deregulated expression of NKL homeobox genes in T-cell lymphomas.

Oncotarget
Nagel, Stefan S; Pommerenke, Claudia C; MacLeod, Roderick A F RAF; Meyer, Corinna C; Kaufmann, Maren M; Fähnrich, Silke S; Drexler, Hans G HG
Publication Date: 2019-05-14

Variant appearance in text: SETD2: P1962L
PubMed Link: 31143370
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of KIF11 As a Novel Target in Meningioma.

Cancers
Jungwirth, Gerhard G; Yu, Tao T; Moustafa, Mahmoud M; Rapp, Carmen C; Warta, Rolf R; Jungk, Christine C; Sahm, Felix F; Dettling, Steffen S; Zweckberger, Klaus K; Lamszus, Katrin K; Senft, Christian C; Loehr, Mario M; Keßler, Almuth F AF; Ketter, Ralf R; Westphal, Manfred M; Debus, Juergen J; von Deimling, Andreas A; Simon, Matthias M; Unterberg, Andreas A; Abdollahi, Amir A; Herold-Mende, Christel C
Publication Date: 2019-04-15

Variant appearance in text: SETD2: P1962L
PubMed Link: 30991738
Variant Present in the following documents:
  • cancers-11-00545-s001.pdf
View BVdb publication page



Breast cancer quantitative proteome and proteogenomic landscape.

Nature Communications
Johansson, Henrik J HJ; Socciarelli, Fabio F; Vacanti, Nathaniel M NM; Haugen, Mads H MH; Zhu, Yafeng Y; Siavelis, Ioannis I; Fernandez-Woodbridge, Alejandro A; Aure, Miriam R MR; Sennblad, Bengt B; Vesterlund, Mattias M; Branca, Rui M RM; Orre, Lukas M LM; Huss, Mikael M; Fredlund, Erik E; Beraki, Elsa E; Garred, Øystein Ø; Boekel, Jorrit J; Sauer, Torill T; Zhao, Wei W; Nord, Silje S; Höglander, Elen K EK; Jans, Daniel C DC; Brismar, Hjalmar H; Haukaas, Tonje H TH; Bathen, Tone F TF; Schlichting, Ellen E; Naume, Bjørn B; , ; Luders, Torben T; Borgen, Elin E; Kristensen, Vessela N VN; Russnes, Hege G HG; Lingjærde, Ole Christian OC; Mills, Gordon B GB; Sahlberg, Kristine K KK; Børresen-Dale, Anne-Lise AL; Lehtiö, Janne J
Publication Date: 2019-04-08

Variant appearance in text: SETD2: 5885C>T; P1962L; rs4082155
PubMed Link: 30962452
Variant Present in the following documents:
  • 41467_2019_9018_MOESM8_ESM.xlsx, sheet 2
View BVdb publication page



Genetic polymorphisms of histone methyltransferase SETD2 predicts prognosis and chemotherapy response in Chinese acute myeloid leukemia patients.

Journal Of Translational Medicine
Wang, Suwei S; Yuan, Xiaoqing X; Liu, Yazhen Y; Zhu, Kewei K; Chen, Peng P; Yan, Han H; Zhang, Daoyu D; Li, Xi X; Zeng, Hui H; Zhao, Xielan X; Chen, Xiaoping X; Zhou, Gan G; Cao, Shan S
Publication Date: 2019-03-28

Variant appearance in text: rs4082155
PubMed Link: 30922329
Variant Present in the following documents:
  • Main text
  • 12967_2019_Article_1848.pdf
View BVdb publication page



A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports
Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW
Publication Date: 2019-03-20

Variant appearance in text: SETD2: P1962L; rs4082155
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 10
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 6
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 13
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 9
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 12
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 2
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 3
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 7
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 8
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 11
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 4
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 5
View BVdb publication page



Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27

Variant appearance in text: rs4082155
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
View BVdb publication page



Familial multifocal micronodular pneumocyte hyperplasia with a novel splicing mutation in TSC1: Three cases in one family.

Plos One
Shoji, Tetsuaki T; Konno, Satoshi S; Niida, Yo Y; Ogi, Takahiro T; Suzuki, Masaru M; Shimizu, Kaoruko K; Hida, Yasuhiro Y; Kaga, Kichizo K; Seyama, Kuniaki K; Naka, Tomoaki T; Matsuno, Yoshihiro Y; Nishimura, Masaharu M
Publication Date: 2019

Variant appearance in text: SETD2: 5885C>T; Pro1962Leu
PubMed Link: 30794603
Variant Present in the following documents:
  • pone.0212370.s008.xlsx, sheet 1
View BVdb publication page



Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution.

Nature Genetics
Justice, Anne E AE; Karaderi, Tugce T; Highland, Heather M HM; Young, Kristin L KL; Graff, Mariaelisa M; Lu, Yingchang Y; Turcot, Valérie V; Auer, Paul L PL; Fine, Rebecca S RS; Guo, Xiuqing X; Schurmann, Claudia C; Lempradl, Adelheid A; Marouli, Eirini E; Mahajan, Anubha A; Winkler, Thomas W TW; Locke, Adam E AE; Medina-Gomez, Carolina C; Esko, Tõnu T; Vedantam, Sailaja S; Giri, Ayush A; Lo, Ken Sin KS; Alfred, Tamuno T; Mudgal, Poorva P; Ng, Maggie C Y MCY; Heard-Costa, Nancy L NL; Feitosa, Mary F MF; Manning, Alisa K AK; Willems, Sara M SM; Sivapalaratnam, Suthesh S; Abecasis, Goncalo G; Alam, Dewan S DS; Allison, Matthew M; Amouyel, Philippe P; Arzumanyan, Zorayr Z; Balkau, Beverley B; Bastarache, Lisa L; Bergmann, Sven S; Bielak, Lawrence F LF; Blüher, Matthias M; Boehnke, Michael M; Boeing, Heiner H; Boerwinkle, Eric E; Böger, Carsten A CA; Bork-Jensen, Jette J; Bottinger, Erwin P EP; Bowden, Donald W DW; Brandslund, Ivan I; Broer, Linda L; Burt, Amber A AA; Butterworth, Adam S AS; Caulfield, Mark J MJ; Cesana, Giancarlo G; Chambers, John C JC; Chasman, Daniel I DI; Chen, Yii-Der Ida YI; Chowdhury, Rajiv R; Christensen, Cramer C; Chu, Audrey Y AY; Collins, Francis S FS; Cook, James P JP; Cox, Amanda J AJ; Crosslin, David S DS; Danesh, John J; de Bakker, Paul I W PIW; Denus, Simon de S; Mutsert, Renée de R; Dedoussis, George G; Demerath, Ellen W EW; Dennis, Joe G JG; Denny, Josh C JC; Di Angelantonio, Emanuele E; Dörr, Marcus M; Drenos, Fotios F; Dubé, Marie-Pierre MP; Dunning, Alison M AM; Easton, Douglas F DF; Elliott, Paul P; Evangelou, Evangelos E; Farmaki, Aliki-Eleni AE; Feng, Shuang S; Ferrannini, Ele E; Ferrieres, Jean J; Florez, Jose C JC; Fornage, Myriam M; Fox, Caroline S CS; Franks, Paul W PW; Friedrich, Nele N; Gan, Wei W; Gandin, Ilaria I; Gasparini, Paolo P; Giedraitis, Vilmantas V; Girotto, Giorgia G; Gorski, Mathias M; Grallert, Harald H; Grarup, Niels N; Grove, Megan L ML; Gustafsson, Stefan S; Haessler, Jeff J; Hansen, Torben T; Hattersley, Andrew T AT; Hayward, Caroline C; Heid, Iris M IM; Holmen, Oddgeir L OL; Hovingh, G Kees GK; Howson, Joanna M M JMM; Hu, Yao Y; Hung, Yi-Jen YJ; Hveem, Kristian K; Ikram, M Arfan MA; Ingelsson, Erik E; Jackson, Anne U AU; Jarvik, Gail P GP; Jia, Yucheng Y; Jørgensen, Torben T; Jousilahti, Pekka P; Justesen, Johanne M JM; Kahali, Bratati B; Karaleftheri, Maria M; Kardia, Sharon L R SLR; Karpe, Fredrik F; Kee, Frank F; Kitajima, Hidetoshi H; Komulainen, Pirjo P; Kooner, Jaspal S JS; Kovacs, Peter P; Krämer, Bernhard K BK; Kuulasmaa, Kari K; Kuusisto, Johanna J; Laakso, Markku M; Lakka, Timo A TA; Lamparter, David D; Lange, Leslie A LA; Langenberg, Claudia C; Larson, Eric B EB; Lee, Nanette R NR; Lee, Wen-Jane WJ; Lehtimäki, Terho T; Lewis, Cora E CE; Li, Huaixing H; Li, Jin J; Li-Gao, Ruifang R; Lin, Li-An LA; Lin, Xu X; Lind, Lars L; Lindström, Jaana J; Linneberg, Allan A; Liu, Ching-Ti CT; Liu, Dajiang J DJ; Luan, Jian'an J; Lyytikäinen, Leo-Pekka LP; MacGregor, Stuart S; Mägi, Reedik R; Männistö, Satu S; Marenne, Gaëlle G; Marten, Jonathan J; Masca, Nicholas G D NGD; McCarthy, Mark I MI; Meidtner, Karina K; Mihailov, Evelin E; Moilanen, Leena L; Moitry, Marie M; Mook-Kanamori, Dennis O DO; Morgan, Anna A; Morris, Andrew P AP; Müller-Nurasyid, Martina M; Munroe, Patricia B PB; Narisu, Narisu N; Nelson, Christopher P CP; Neville, Matt M; Ntalla, Ioanna I; O'Connell, Jeffrey R JR; Owen, Katharine R KR; Pedersen, Oluf O; Peloso, Gina M GM; Pennell, Craig E CE; Perola, Markus M; Perry, James A JA; Perry, John R B JRB; Pers, Tune H TH; Ewing, Ailith A; Polasek, Ozren O; Raitakari, Olli T OT; Rasheed, Asif A; Raulerson, Chelsea K CK; Rauramaa, Rainer R; Reilly, Dermot F DF; Reiner, Alex P AP; Ridker, Paul M PM; Rivas, Manuel A MA; Robertson, Neil R NR; Robino, Antonietta A; Rudan, Igor I; Ruth, Katherine S KS; Saleheen, Danish D; Salomaa, Veikko V; Samani, Nilesh J NJ; Schreiner, Pamela J PJ; Schulze, Matthias B MB; Scott, Robert A RA; Segura-Lepe, Marcelo M; Sim, Xueling X; Slater, Andrew J AJ; Small, Kerrin S KS; Smith, Blair H BH; Smith, Jennifer A JA; Southam, Lorraine L; Spector, Timothy D TD; Speliotes, Elizabeth K EK; Stefansson, Kari K; Steinthorsdottir, Valgerdur V; Stirrups, Kathleen E KE; Strauch, Konstantin K; Stringham, Heather M HM; Stumvoll, Michael M; Sun, Liang L; Surendran, Praveen P; Swart, Karin M A KMA; Tardif, Jean-Claude JC; Taylor, Kent D KD; Teumer, Alexander A; Thompson, Deborah J DJ; Thorleifsson, Gudmar G; Thorsteinsdottir, Unnur U; Thuesen, Betina H BH; Tönjes, Anke A; Torres, Mina M; Tsafantakis, Emmanouil E; Tuomilehto, Jaakko J; Uitterlinden, André G AG; Uusitupa, Matti M; van Duijn, Cornelia M CM; Vanhala, Mauno M; Varma, Rohit R; Vermeulen, Sita H SH; Vestergaard, Henrik H; Vitart, Veronique V; Vogt, Thomas F TF; Vuckovic, Dragana D; Wagenknecht, Lynne E LE; Walker, Mark M; Wallentin, Lars L; Wang, Feijie F; Wang, Carol A CA; Wang, Shuai S; Wareham, Nicholas J NJ; Warren, Helen R HR; Waterworth, Dawn M DM; Wessel, Jennifer J; White, Harvey D HD; Willer, Cristen J CJ; Wilson, James G JG; Wood, Andrew R AR; Wu, Ying Y; Yaghootkar, Hanieh H; Yao, Jie J; Yerges-Armstrong, Laura M LM; Young, Robin R; Zeggini, Eleftheria E; Zhan, Xiaowei X; Zhang, Weihua W; Zhao, Jing Hua JH; Zhao, Wei W; Zheng, He H; Zhou, Wei W; Zillikens, M Carola MC; Rivadeneira, Fernando F; Borecki, Ingrid B IB; Pospisilik, J Andrew JA; Deloukas, Panos P; Frayling, Timothy M TM; Lettre, Guillaume G; Mohlke, Karen L KL; Rotter, Jerome I JI; Kutalik, Zoltán Z; Hirschhorn, Joel N JN; Cupples, L Adrienne LA; Loos, Ruth J F RJF; North, Kari E KE; Lindgren, Cecilia M CM; , ; , ; , ; , ; , ; , ; , ; , ; , ; ,
Publication Date: 2019-03

Variant appearance in text: SETD2: P1962L; rs4082155
PubMed Link: 30778226
Variant Present in the following documents:
  • NIHMS1016010-supplement-SupplementaryData5.xlsx, sheet 1
  • NIHMS1016010-supplement-SupplementaryData4.xlsx, sheet 1
  • NIHMS1016010-supplement-SupplementaryData6.xlsx, sheet 1
View BVdb publication page



Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports
Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS
Publication Date: 2018-12-04

Variant appearance in text: SETD2: P1962L; rs4082155
PubMed Link: 30514953
Variant Present in the following documents:
  • 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Scientific Reports
Khan, Muhammad Jaseem MJ; Pollock, Nijole N; Jiang, Huaiyang H; Castro, Carlos C; Nazli, Rubina R; Ahmed, Jawad J; Basit, Sulman S; Rajkovic, Aleksandar A; Yatsenko, Alexander N AN
Publication Date: 2018-11-02

Variant appearance in text: SETD2: P1962L; rs4082155
PubMed Link: 30389958
Variant Present in the following documents:
  • 41598_2018_34262_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: SETD2: 5885C>T; Pro1962Leu; rs4082155
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
  • Table_5.xlsx, sheet 1
View BVdb publication page



Surgical therapy and next-generation sequencing-based genetic alteration analysis of malignant solitary fibrous tumor of the pleura.

Oncotargets And Therapy
Song, Zuoqing Z; Yang, Fan F; Zhang, Yingguo Y; Fan, Ping P; Liu, Guowei G; Li, Chao C; Ding, Wansheng W; Zhang, Yulong Y; Xu, Xiaohong X; Ye, Yancheng Y
Publication Date: 2018

Variant appearance in text: SETD2: P1962L; rs4082155
PubMed Link: 30214228
Variant Present in the following documents:
  • Main text
  • ott-11-5227.pdf
View BVdb publication page



Genetic and transcriptional evolution alters cancer cell line drug response.

Nature
Ben-David, Uri U; Siranosian, Benjamin B; Ha, Gavin G; Tang, Helen H; Oren, Yaara Y; Hinohara, Kunihiko K; Strathdee, Craig A CA; Dempster, Joshua J; Lyons, Nicholas J NJ; Burns, Robert R; Nag, Anwesha A; Kugener, Guillaume G; Cimini, Beth B; Tsvetkov, Peter P; Maruvka, Yosef E YE; O'Rourke, Ryan R; Garrity, Anthony A; Tubelli, Andrew A AA; Bandopadhayay, Pratiti P; Tsherniak, Aviad A; Vazquez, Francisca F; Wong, Bang B; Birger, Chet C; Ghandi, Mahmoud M; Thorner, Aaron R AR; Bittker, Joshua A JA; Meyerson, Matthew M; Getz, Gad G; Beroukhim, Rameen R; Golub, Todd R TR
Publication Date: 2018-08

Variant appearance in text: SETD2: 5885C>T; P1962L; rs4082155
PubMed Link: 30089904
Variant Present in the following documents:
  • NIHMS977514-supplement-Sup_Table_5.xlsx, sheet 1
  • NIHMS977514-supplement-Sup_Table_17.xlsx, sheet 1
View BVdb publication page



Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes.

Nature Genetics
Mahajan, Anubha A; Wessel, Jennifer J; Willems, Sara M SM; Zhao, Wei W; Robertson, Neil R NR; Chu, Audrey Y AY; Gan, Wei W; Kitajima, Hidetoshi H; Taliun, Daniel D; Rayner, N William NW; Guo, Xiuqing X; Lu, Yingchang Y; Li, Man M; Jensen, Richard A RA; Hu, Yao Y; Huo, Shaofeng S; Lohman, Kurt K KK; Zhang, Weihua W; Cook, James P JP; Prins, Bram Peter BP; Flannick, Jason J; Grarup, Niels N; Trubetskoy, Vassily Vladimirovich VV; Kravic, Jasmina J; Kim, Young Jin YJ; Rybin, Denis V DV; Yaghootkar, Hanieh H; Müller-Nurasyid, Martina M; Meidtner, Karina K; Li-Gao, Ruifang R; Varga, Tibor V TV; Marten, Jonathan J; Li, Jin J; Smith, Albert Vernon AV; An, Ping P; Ligthart, Symen S; Gustafsson, Stefan S; Malerba, Giovanni G; Demirkan, Ayse A; Tajes, Juan Fernandez JF; Steinthorsdottir, Valgerdur V; Wuttke, Matthias M; Lecoeur, Cécile C; Preuss, Michael M; Bielak, Lawrence F LF; Graff, Marielisa M; Highland, Heather M HM; Justice, Anne E AE; Liu, Dajiang J DJ; Marouli, Eirini E; Peloso, Gina Marie GM; Warren, Helen R HR; , ; , ; , ; Afaq, Saima S; Afzal, Shoaib S; Ahlqvist, Emma E; Almgren, Peter P; Amin, Najaf N; Bang, Lia B LB; Bertoni, Alain G AG; Bombieri, Cristina C; Bork-Jensen, Jette J; Brandslund, Ivan I; Brody, Jennifer A JA; Burtt, Noël P NP; Canouil, Mickaël M; Chen, Yii-Der Ida YI; Cho, Yoon Shin YS; Christensen, Cramer C; Eastwood, Sophie V SV; Eckardt, Kai-Uwe KU; Fischer, Krista K; Gambaro, Giovanni G; Giedraitis, Vilmantas V; Grove, Megan L ML; de Haan, Hugoline G HG; Hackinger, Sophie S; Hai, Yang Y; Han, Sohee S; Tybjærg-Hansen, Anne A; Hivert, Marie-France MF; Isomaa, Bo B; Jäger, Susanne S; Jørgensen, Marit E ME; Jørgensen, Torben T; Käräjämäki, Annemari A; Kim, Bong-Jo BJ; Kim, Sung Soo SS; Koistinen, Heikki A HA; Kovacs, Peter P; Kriebel, Jennifer J; Kronenberg, Florian F; Läll, Kristi K; Lange, Leslie A LA; Lee, Jung-Jin JJ; Lehne, Benjamin B; Li, Huaixing H; Lin, Keng-Hung KH; Linneberg, Allan A; Liu, Ching-Ti CT; Liu, Jun J; Loh, Marie M; Mägi, Reedik R; Mamakou, Vasiliki V; McKean-Cowdin, Roberta R; Nadkarni, Girish G; Neville, Matt M; Nielsen, Sune F SF; Ntalla, Ioanna I; Peyser, Patricia A PA; Rathmann, Wolfgang W; Rice, Kenneth K; Rich, Stephen S SS; Rode, Line L; Rolandsson, Olov O; Schönherr, Sebastian S; Selvin, Elizabeth E; Small, Kerrin S KS; Stančáková, Alena A; Surendran, Praveen P; Taylor, Kent D KD; Teslovich, Tanya M TM; Thorand, Barbara B; Thorleifsson, Gudmar G; Tin, Adrienne A; Tönjes, Anke A; Varbo, Anette A; Witte, Daniel R DR; Wood, Andrew R AR; Yajnik, Pranav P; Yao, Jie J; Yengo, Loïc L; Young, Robin R; Amouyel, Philippe P; Boeing, Heiner H; Boerwinkle, Eric E; Bottinger, Erwin P EP; Chowdhury, Rajiv R; Collins, Francis S FS; Dedoussis, George G; Dehghan, Abbas A; Deloukas, Panos P; Ferrario, Marco M MM; Ferrières, Jean J; Florez, Jose C JC; Frossard, Philippe P; Gudnason, Vilmundur V; Harris, Tamara B TB; Heckbert, Susan R SR; Howson, Joanna M M JMM; Ingelsson, Martin M; Kathiresan, Sekar S; Kee, Frank F; Kuusisto, Johanna J; Langenberg, Claudia C; Launer, Lenore J LJ; Lindgren, Cecilia M CM; Männistö, Satu S; Meitinger, Thomas T; Melander, Olle O; Mohlke, Karen L KL; Moitry, Marie M; Morris, Andrew D AD; Murray, Alison D AD; de Mutsert, Renée R; Orho-Melander, Marju M; Owen, Katharine R KR; Perola, Markus M; Peters, Annette A; Province, Michael A MA; Rasheed, Asif A; Ridker, Paul M PM; Rivadineira, Fernando F; Rosendaal, Frits R FR; Rosengren, Anders H AH; Salomaa, Veikko V; Sheu, Wayne H-H WH; Sladek, Rob R; Smith, Blair H BH; Strauch, Konstantin K; Uitterlinden, André G AG; Varma, Rohit R; Willer, Cristen J CJ; Blüher, Matthias M; Butterworth, Adam S AS; Chambers, John Campbell JC; Chasman, Daniel I DI; Danesh, John J; van Duijn, Cornelia C; Dupuis, Josée J; Franco, Oscar H OH; Franks, Paul W PW; Froguel, Philippe P; Grallert, Harald H; Groop, Leif L; Han, Bok-Ghee BG; Hansen, Torben T; Hattersley, Andrew T AT; Hayward, Caroline C; Ingelsson, Erik E; Kardia, Sharon L R SLR; Karpe, Fredrik F; Kooner, Jaspal Singh JS; Köttgen, Anna A; Kuulasmaa, Kari K; Laakso, Markku M; Lin, Xu X; Lind, Lars L; Liu, Yongmei Y; Loos, Ruth J F RJF; Marchini, Jonathan J; Metspalu, Andres A; Mook-Kanamori, Dennis D; Nordestgaard, Børge G BG; Palmer, Colin N A CNA; Pankow, James S JS; Pedersen, Oluf O; Psaty, Bruce M BM; Rauramaa, Rainer R; Sattar, Naveed N; Schulze, Matthias B MB; Soranzo, Nicole N; Spector, Timothy D TD; Stefansson, Kari K; Stumvoll, Michael M; Thorsteinsdottir, Unnur U; Tuomi, Tiinamaija T; Tuomilehto, Jaakko J; Wareham, Nicholas J NJ; Wilson, James G JG; Zeggini, Eleftheria E; Scott, Robert A RA; Barroso, Inês I; Frayling, Timothy M TM; Goodarzi, Mark O MO; Meigs, James B JB; Boehnke, Michael M; Saleheen, Danish D; Morris, Andrew P AP; Rotter, Jerome I JI; McCarthy, Mark I MI
Publication Date: 2018-04

Variant appearance in text: rs4082155
PubMed Link: 29632382
Variant Present in the following documents:
  • Main text
  • nihms938867.pdf
View BVdb publication page



A multiple myeloma-specific capture sequencing platform discovers novel translocations and frequent, risk-associated point mutations in IGLL5.

Blood Cancer Journal
White, Brian S BS; Lanc, Irena I; O'Neal, Julie J; Gupta, Harshath H; Fulton, Robert S RS; Schmidt, Heather H; Fronick, Catrina C; Belter, Edward A EA; Fiala, Mark M; King, Justin J; Ahmann, Greg J GJ; DeRome, Mary M; Mardis, Elaine R ER; Vij, Ravi R; DiPersio, John F JF; Levy, Joan J; Auclair, Daniel D; Tomasson, Michael H MH
Publication Date: 2018-03-21

Variant appearance in text: SETD2: P1962L
PubMed Link: 29563506
Variant Present in the following documents:
  • 41408_2018_62_MOESM1_ESM.xls, sheet 8
View BVdb publication page



Discovery of coding regions in the human genome by integrated proteogenomics analysis workflow.

Nature Communications
Zhu, Yafeng Y; Orre, Lukas M LM; Johansson, Henrik J HJ; Huss, Mikael M; Boekel, Jorrit J; Vesterlund, Mattias M; Fernandez-Woodbridge, Alejandro A; Branca, Rui M M RMM; Lehtiö, Janne J
Publication Date: 2018-03-02

Variant appearance in text: rs4082155
PubMed Link: 29500430
Variant Present in the following documents:
  • 41467_2018_3311_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Nature Communications
Schrader, A A; Crispatzu, G G; Oberbeck, S S; Mayer, P P; Pützer, S S; von Jan, J J; Vasyutina, E E; Warner, K K; Weit, N N; Pflug, N N; Braun, T T; Andersson, E I EI; Yadav, B B; Riabinska, A A; Maurer, B B; Ventura Ferreira, M S MS; Beier, F F; Altmüller, J J; Lanasa, M M; Herling, C D CD; Haferlach, T T; Stilgenbauer, S S; Hopfinger, G G; Peifer, M M; Brümmendorf, T H TH; Nürnberg, P P; Elenitoba-Johnson, K S J KSJ; Zha, S S; Hallek, M M; Moriggl, R R; Reinhardt, H C HC; Stern, M-H MH; Mustjoki, S S; Newrzela, S S; Frommolt, P P; Herling, M M
Publication Date: 2018-02-15

Variant appearance in text: SETD2: P1962L; rs4082155
PubMed Link: 29449575
Variant Present in the following documents:
  • 41467_2017_2688_MOESM20_ESM.xlsx, sheet 6
  • 41467_2017_2688_MOESM20_ESM.xlsx, sheet 3
  • 41467_2017_2688_MOESM14_ESM.xls, sheet 4
  • 41467_2017_2688_MOESM14_ESM.xls, sheet 3
View BVdb publication page