CCDC92 c.208A>T ;(p.S70C)

Variant ID: 12-124427306-T-A

NM_025140.1(CCDC92):c.208A>T;(p.S70C)

This variant was identified in 50 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: CCDC92: S70C
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
View BVdb publication page



Integrative proteogenomic characterization of early esophageal cancer.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Zhang, Qiao Q; Liu, Hui H; Xu, Fujiang F; Guo, Chunmei C; Qin, Zhaoyu Z; Wang, Haixing H; Feng, Jinwen J; Liu, Yang Y; Chen, Weijie W; Zhang, Xue X; Bai, Lin L; Tian, Sha S; Tan, Subei S; Xu, Chen C; Song, Qi Q; Liu, Yalan Y; Zhong, Yunshi Y; Chen, Tianyin T; Zhou, Pinghong P; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-25

Variant appearance in text: CCDC92: S70C; rs11057401
PubMed Link: 36966136
Variant Present in the following documents:
  • 41467_2023_37440_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page



Multimodal CRISPR perturbations of GWAS loci associated with coronary artery disease in vascular endothelial cells.

Plos Genetics
Wünnemann, Florian F; Fotsing Tadjo, Thierry T; Beaudoin, Mélissa M; Lalonde, Simon S; Lo, Ken Sin KS; Kleinstiver, Benjamin P BP; Lettre, Guillaume G
Publication Date: 2023-03-16

Variant appearance in text: rs11057401
PubMed Link: 36928188
Variant Present in the following documents:
  • Main text
  • pgen.1010680.pdf
View BVdb publication page



Genetic ablation of diabetes-associated gene Ccdc92 reduces obesity and insulin resistance in mice.

Iscience
Ren, Lu L; Du, Wa W; Song, Dan D; Lu, Haocheng H; Hamblin, Milton H MH; Wang, Chenran C; Du, Chunying C; Fan, Guo-Chang GC; Becker, Richard C RC; Fan, Yanbo Y
Publication Date: 2023-01-20

Variant appearance in text: CCDC92: Ser70Cys; rs11057401
PubMed Link: 36594018
Variant Present in the following documents:
  • Main text
  • main.pdf
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: CCDC92: S70C; rs11057401
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Genome-Wide Transcriptional Profiling Reveals PHACTR1 as a Novel Molecular Target of Resveratrol in Endothelial Homeostasis.

Nutrients
Su, Meiming M; Zhao, Wenqi W; Li, Yujie Y; Li, Hong H; Xu, Suowen S; Weng, Jianping J
Publication Date: 2022-10-27

Variant appearance in text: rs11057401
PubMed Link: 36364780
Variant Present in the following documents:
  • nutrients-14-04518.pdf
View BVdb publication page



Beneficial effects of mifepristone treatment in breast cancer patients selected by the progesterone receptor isoform ratio: Results from the MIPRA trial.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Elía, Andrés A; Saldain, Leo L; Vanzulli, Silvia I SI; Helguero, Luisa A LA; Lamb, Caroline A CA; Fabris, Victoria V; Pataccini, Gabriela G; Martínez-Vazquez, Paula P; Burruchaga, Javier J; Caillet-Bois, Ines I; Spengler, Eunice E; Acosta Haab, Gabriela G; Liguori, Marcos M; Castets, Alejandra A; Lovisi, Silvia S; Abascal, María F MF; Novaro, Virginia V; Sánchez, Jana J; Muñoz, Javier J; Belizán, Jose M JM; Abba, Martín C MC; Gass, Hugo H; Rojas, Paola P; Lanari, Claudia C
Publication Date: 2022-10-21

Variant appearance in text: CCDC92: 208A>T; Ser70Cys; rs11057401
PubMed Link: 36269797
Variant Present in the following documents:
  • ccr-22-2060_supplementary_table_s5_suppts5.xlsx, sheet 1
View BVdb publication page



Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: CCDC92: S70C
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Npj Parkinson'S Disease
Cukier, Holly N HN; Kim, Hyunjin H; Griswold, Anthony J AJ; Codreanu, Simona G SG; Prince, Lisa M LM; Sherrod, Stacy D SD; McLean, John A JA; Dykxhoorn, Derek M DM; Ess, Kevin C KC; Hedera, Peter P; Bowman, Aaron B AB; Neely, M Diana MD
Publication Date: 2022-06-29

Variant appearance in text: rs11057401
PubMed Link: 35768426
Variant Present in the following documents:
  • 41531_2022_346_MOESM2_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: CCDC92: S70C; rs11057401
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



A bipartite graph-based expected networks approach identifies DDR genes not associated with TMB yet predictive of immune checkpoint blockade response.

Cell Reports. Medicine
Weir, William H WH; Mucha, Peter J PJ; Kim, William Y WY
Publication Date: 2022-05-17

Variant appearance in text: CCDC92: 208A>T; Ser70Cys
PubMed Link: 35584624
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
View BVdb publication page



Polygenic risk for coronary artery disease in the Scottish and English population.

Bmc Cardiovascular Disorders
Yang, Chuhua C; Starnecker, Fabian F; Pang, Shichao S; Chen, Zhifen Z; Güldener, Ulrich U; Li, Ling L; Heinig, Matthias M; Schunkert, Heribert H
Publication Date: 2021-12-07

Variant appearance in text: rs11057401
PubMed Link: 34876023
Variant Present in the following documents:
  • 12872_2021_2398_MOESM1_ESM.pdf
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: CCDC92: S70C
PubMed Link: 34858801
Variant Present in the following documents:
  • Table_1.xls, 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: CCDC92: 208A>T; S70C; rs11057401
PubMed Link: 33770142
Variant Present in the following documents:
  • pone.0249324.s003.xlsx, sheet 1
View BVdb publication page



High throughput profiling of undifferentiated pleomorphic sarcomas identifies two main subgroups with distinct immune profile, clinical outcome and sensitivity to targeted therapies.

Ebiomedicine
Toulmonde, Maud M; Lucchesi, Carlo C; Verbeke, Stéphanie S; Crombe, Amandine A; Adam, Julien J; Geneste, Damien D; Chaire, Vanessa V; Laroche-Clary, Audrey A; Perret, Raul R; Bertucci, François F; Bertolo, Frederic F; Bianchini, Laurence L; Dadone-Montaudie, Bérengère B; Hembrough, Todd T; Sweet, Steve S; Kim, Yeoun Jin YJ; Cecchi, Fabiola F; Le Loarer, François F; Italiano, Antoine A
Publication Date: 2020-12

Variant appearance in text: CCDC92: 208A>T; S70C; rs11057401
PubMed Link: 33254023
Variant Present in the following documents:
  • mmc5.xlsx, sheet 1
View BVdb publication page



Genome-wide association studies and Mendelian randomization analyses for leisure sedentary behaviours.

Nature Communications
van de Vegte, Yordi J YJ; Said, M Abdullah MA; Rienstra, Michiel M; van der Harst, Pim P; Verweij, Niek N
Publication Date: 2020-04-21

Variant appearance in text: CCDC92: S70C; rs11057401
PubMed Link: 32317632
Variant Present in the following documents:
  • 41467_2020_15553_MOESM6_ESM.xlsx, 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: rs11057401
PubMed Link: 32313182
Variant Present in the following documents:
  • 42003_2020_885_MOESM2_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: CCDC92: Ser70Cys
PubMed Link: 31894249
Variant Present in the following documents:
  • Supplementary_Data2.xlsx, sheet 8
  • Supplementary_Data2.xlsx, sheet 6
  • Supplementary_Data2.xlsx, sheet 7
View BVdb publication page



Association of Genetically Predicted Lipid Levels With the Extent of Coronary Atherosclerosis in Icelandic Adults.

Jama Cardiology
Björnsson, Eythór E; Thorleifsson, Guðmar G; Helgadóttir, Anna A; Guðnason, Thórarinn T; Guðbjartsson, Tómas T; Andersen, Karl K; Grétarsdóttir, Sólveig S; Ólafsson, Ísleifur Í; Tragante, Vinicius V; Ólafsson, Ólafur Hreiðar ÓH; Jónsdóttir, Birna B; Eyjólfsson, Guðmundur I GI; Sigurðardóttir, Ólöf Ó; Thorgeirsson, Guðmundur G; Guðbjartsson, Daníel F DF; Thorsteinsdóttir, Unnur U; Hólm, Hilma H; Stefánsson, Kári K
Publication Date: 2020-01-01

Variant appearance in text: rs11057401
PubMed Link: 31746962
Variant Present in the following documents:
  • jamacardiol-5-13-s001.pdf
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: CCDC92: S70C; rs11057401
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



The transferability of lipid loci across African, Asian and European cohorts.

Nature Communications
Kuchenbaecker, Karoline K; Telkar, Nikita N; Reiker, Theresa T; Walters, Robin G RG; Lin, Kuang K; Eriksson, Anders A; Gurdasani, Deepti D; Gilly, Arthur A; Southam, Lorraine L; Tsafantakis, Emmanouil E; Karaleftheri, Maria M; Seeley, Janet J; Kamali, Anatoli A; Asiki, Gershim G; Millwood, Iona Y IY; Holmes, Michael M; Du, Huaidong H; Guo, Yu Y; Kumari, Meena M; Dedoussis, George G; Li, Liming L; Chen, Zhengming Z; Sandhu, Manjinder S MS; Zeggini, Eleftheria E; ,
Publication Date: 2019-09-24

Variant appearance in text: rs11057401
PubMed Link: 31551420
Variant Present in the following documents:
  • 41467_2019_12026_MOESM1_ESM.pdf
View BVdb publication page



Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.

Nature Communications
Fragoza, Robert R; Das, Jishnu J; Wierbowski, Shayne D SD; Liang, Jin J; Tran, Tina N TN; Liang, Siqi S; Beltran, Juan F JF; Rivera-Erick, Christen A CA; Ye, Kaixiong K; Wang, Ting-Yi TY; Yao, Li L; Mort, Matthew M; Stenson, Peter D PD; Cooper, David N DN; Wei, Xiaomu X; Keinan, Alon A; Schimenti, John C JC; Clark, Andrew G AG; Yu, Haiyuan H
Publication Date: 2019-09-12

Variant appearance in text: CCDC92: 208A>T; S70C; rs11057401
PubMed Link: 31515488
Variant Present in the following documents:
  • 41467_2019_11959_MOESM11_ESM.xlsx, sheet 1
  • 41467_2019_11959_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Regional fat depot masses are influenced by protein-coding gene variants.

Plos One
Neville, Matt J MJ; Wittemans, Laura B L LBL; Pinnick, Katherine E KE; Todorčević, Marijana M; Kaksonen, Risto R; Pietiläinen, Kirsi H KH; Luan, Jian'an J; Scott, Robert A RA; Wareham, Nicholas J NJ; Langenberg, Claudia C; Karpe, Fredrik F
Publication Date: 2019

Variant appearance in text: CCDC92: S70C; rs11057401
PubMed Link: 31145760
Variant Present in the following documents:
  • Main text
  • pone.0217644.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: CCDC92: S70C; rs11057401
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 5
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 8
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 4
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 7
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 6
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 9
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 10
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 12
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: CCDC92: 208A>T; Ser70Cys; rs11057401
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
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1
View BVdb publication page



Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.

Cell Reports
Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM
Publication Date: 2019-02-19

Variant appearance in text: CCDC92: S70C
PubMed Link: 30784590
Variant Present in the following documents:
  • mmc6.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: CCDC92: S70C; rs11057401
PubMed Link: 30778226
Variant Present in the following documents:
  • Main text
  • NIHMS1016010-supplement-SupplementaryData4.xlsx, sheet 1
  • NIHMS1016010-supplement-SupplementaryData16.xlsx, sheet 1
  • NIHMS1016010-supplement-SupplementaryData11.xlsx, sheet 1
  • NIHMS1016010-supplement-SupplementaryData14.xlsx, sheet 1
  • NIHMS1016010-supplement-SupplementaryData17.xlsx, sheet 1
  • NIHMS1016010-supplement-Supplementaryfig.pdf
  • NIHMS1016010-supplement-SupplementaryData5.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: CCDC92: S70C; rs11057401
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: CCDC92: S70C; rs11057401
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: CCDC92: 208A>T; Ser70Cys; rs11057401
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
View BVdb publication page



Identification of 613 new loci associated with heel bone mineral density and a polygenic risk score for bone mineral density, osteoporosis and fracture.

Plos One
Kim, Stuart K SK
Publication Date: 2018

Variant appearance in text: CCDC92: S70C; rs11057401
PubMed Link: 30048462
Variant Present in the following documents:
  • pone.0200785.s003.xlsx, sheet 1
View BVdb publication page



Multiplexed Targeted Resequencing Identifies Coding and Regulatory Variation Underlying Phenotypic Extremes of High-Density Lipoprotein Cholesterol in Humans.

Circulation. Genomic And Precision Medicine
Khetarpal, Sumeet A SA; Babb, Paul L PL; Zhao, Wei W; Hancock-Cerutti, William F WF; Brown, Christopher D CD; Rader, Daniel J DJ; Voight, Benjamin F BF
Publication Date: 2018-07

Variant appearance in text: rs11057401
PubMed Link: 29987113
Variant Present in the following documents:
  • Main text
View BVdb publication page



Multi-ethnic genome-wide association study for atrial fibrillation.

Nature Genetics
Roselli, Carolina C; Chaffin, Mark D MD; Weng, Lu-Chen LC; Aeschbacher, Stefanie S; Ahlberg, Gustav G; Albert, Christine M CM; Almgren, Peter P; Alonso, Alvaro A; Anderson, Christopher D CD; Aragam, Krishna G KG; Arking, Dan E DE; Barnard, John J; Bartz, Traci M TM; Benjamin, Emelia J EJ; Bihlmeyer, Nathan A NA; Bis, Joshua C JC; Bloom, Heather L HL; Boerwinkle, Eric E; Bottinger, Erwin B EB; Brody, Jennifer A JA; Calkins, Hugh H; Campbell, Archie A; Cappola, Thomas P TP; Carlquist, John J; Chasman, Daniel I DI; Chen, Lin Y LY; Chen, Yii-Der Ida YI; Choi, Eue-Keun EK; Choi, Seung Hoan SH; Christophersen, Ingrid E IE; Chung, Mina K MK; Cole, John W JW; Conen, David D; Cook, James J; Crijns, Harry J HJ; Cutler, Michael J MJ; Damrauer, Scott M SM; Daniels, Brian R BR; Darbar, Dawood D; Delgado, Graciela G; Denny, Joshua C JC; Dichgans, Martin M; Dörr, Marcus M; Dudink, Elton A EA; Dudley, Samuel C SC; Esa, Nada N; Esko, Tonu T; Eskola, Markku M; Fatkin, Diane D; Felix, Stephan B SB; Ford, Ian I; Franco, Oscar H OH; Geelhoed, Bastiaan B; Grewal, Raji P RP; Gudnason, Vilmundur V; Guo, Xiuqing X; Gupta, Namrata N; Gustafsson, Stefan S; Gutmann, Rebecca R; Hamsten, Anders A; Harris, Tamara B TB; Hayward, Caroline C; Heckbert, Susan R SR; Hernesniemi, Jussi J; Hocking, Lynne J LJ; Hofman, Albert A; Horimoto, Andrea R V R ARVR; Huang, Jie J; Huang, Paul L PL; Huffman, Jennifer J; Ingelsson, Erik E; Ipek, Esra Gucuk EG; Ito, Kaoru K; Jimenez-Conde, Jordi J; Johnson, Renee R; Jukema, J Wouter JW; Kääb, Stefan S; Kähönen, Mika M; Kamatani, Yoichiro Y; Kane, John P JP; Kastrati, Adnan A; Kathiresan, Sekar S; Katschnig-Winter, Petra P; Kavousi, Maryam M; Kessler, Thorsten T; Kietselaer, Bas L BL; Kirchhof, Paulus P; Kleber, Marcus E ME; Knight, Stacey S; Krieger, Jose E JE; Kubo, Michiaki M; Launer, Lenore J LJ; Laurikka, Jari J; Lehtimäki, Terho T; Leineweber, Kirsten K; Lemaitre, Rozenn N RN; Li, Man M; Lim, Hong Euy HE; Lin, Henry J HJ; Lin, Honghuang H; Lind, Lars L; Lindgren, Cecilia M CM; Lokki, Marja-Liisa ML; London, Barry B; Loos, Ruth J F RJF; Low, Siew-Kee SK; Lu, Yingchang Y; Lyytikäinen, Leo-Pekka LP; Macfarlane, Peter W PW; Magnusson, Patrik K PK; Mahajan, Anubha A; Malik, Rainer R; Mansur, Alfredo J AJ; Marcus, Gregory M GM; Margolin, Lauren L; Margulies, Kenneth B KB; März, Winfried W; McManus, David D DD; Melander, Olle O; Mohanty, Sanghamitra S; Montgomery, Jay A JA; Morley, Michael P MP; Morris, Andrew P AP; Müller-Nurasyid, Martina M; Natale, Andrea A; Nazarian, Saman S; Neumann, Benjamin B; Newton-Cheh, Christopher C; Niemeijer, Maartje N MN; Nikus, Kjell K; Nilsson, Peter P; Noordam, Raymond R; Oellers, Heidi H; Olesen, Morten S MS; Orho-Melander, Marju M; Padmanabhan, Sandosh S; Pak, Hui-Nam HN; Paré, Guillaume G; Pedersen, Nancy L NL; Pera, Joanna J; Pereira, Alexandre A; Porteous, David D; Psaty, Bruce M BM; Pulit, Sara L SL; Pullinger, Clive R CR; Rader, Daniel J DJ; Refsgaard, Lena L; Ribasés, Marta M; Ridker, Paul M PM; Rienstra, Michiel M; Risch, Lorenz L; Roden, Dan M DM; Rosand, Jonathan J; Rosenberg, Michael A MA; Rost, Natalia N; Rotter, Jerome I JI; Saba, Samir S; Sandhu, Roopinder K RK; Schnabel, Renate B RB; Schramm, Katharina K; Schunkert, Heribert H; Schurman, Claudia C; Scott, Stuart A SA; Seppälä, Ilkka I; Shaffer, Christian C; Shah, Svati S; Shalaby, Alaa A AA; Shim, Jaemin J; Shoemaker, M Benjamin MB; Siland, Joylene E JE; Sinisalo, Juha J; Sinner, Moritz F MF; Slowik, Agnieszka A; Smith, Albert V AV; Smith, Blair H BH; Smith, J Gustav JG; Smith, Jonathan D JD; Smith, Nicholas L NL; Soliman, Elsayed Z EZ; Sotoodehnia, Nona N; Stricker, Bruno H BH; Sun, Albert A; Sun, Han H; Svendsen, Jesper H JH; Tanaka, Toshihiro T; Tanriverdi, Kahraman K; Taylor, Kent D KD; Teder-Laving, Maris M; Teumer, Alexander A; Thériault, Sébastien S; Trompet, Stella S; Tucker, Nathan R NR; Tveit, Arnljot A; Uitterlinden, Andre G AG; Van Der Harst, Pim P; Van Gelder, Isabelle C IC; Van Wagoner, David R DR; Verweij, Niek N; Vlachopoulou, Efthymia E; Völker, Uwe U; Wang, Biqi B; Weeke, Peter E PE; Weijs, Bob B; Weiss, Raul R; Weiss, Stefan S; Wells, Quinn S QS; Wiggins, Kerri L KL; Wong, Jorge A JA; Woo, Daniel D; Worrall, Bradford B BB; Yang, Pil-Sung PS; Yao, Jie J; Yoneda, Zachary T ZT; Zeller, Tanja T; Zeng, Lingyao L; Lubitz, Steven A SA; Lunetta, Kathryn L KL; Ellinor, Patrick T PT
Publication Date: 2018-06-11

Variant appearance in text: rs11057401
PubMed Link: 29892015
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association between single nucleotide polymorphism rs11057401 of CCDC92 gene and the risk of coronary heart disease (CHD).

Lipids In Health And Disease
Xiao, Lingyan L; Shi, Dongyang D; Zhang, Hui H; Zhang, Yanchun Y; Liu, Yongfu Y; Lu, Hu H; Zheng, Yishan Y
Publication Date: 2018-02-13

Variant appearance in text: CCDC92: Ser70Cys; rs11057401
PubMed Link: 29439709
Variant Present in the following documents:
  • Main text
  • 12944_2018_Article_672.pdf
View BVdb publication page



Genotype-based recall to study metabolic effects of genetic variation: a pilot study of PPARG Pro12Ala carriers.

Upsala Journal Of Medical Sciences
Kamble, Prasad G PG; Gustafsson, Stefan S; Pereira, Maria J MJ; Lundkvist, Per P; Cook, Naomi N; Lind, Lars L; Franks, Paul W PW; Fall, Tove T; Eriksson, Jan W JW; Ingelsson, Erik E
Publication Date: 2017-11

Variant appearance in text: rs11057401
PubMed Link: 29303622
Variant Present in the following documents:
  • Main text
  • iups-122-234.pdf
View BVdb publication page



Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget
Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH
Publication Date: 2017-11-10

Variant appearance in text: CCDC92: S70C; rs11057401
PubMed Link: 29221171
Variant Present in the following documents:
  • oncotarget-08-95841-s002.xlsx, sheet 1
  • oncotarget-08-95841-s002.xlsx, sheet 4
View BVdb publication page



Genetic analysis in UK Biobank links insulin resistance and transendothelial migration pathways to coronary artery disease.

Nature Genetics
Klarin, Derek D; Zhu, Qiuyu Martin QM; Emdin, Connor A CA; Chaffin, Mark M; Horner, Steven S; McMillan, Brian J BJ; Leed, Alison A; Weale, Michael E ME; Spencer, Chris C A CCA; Aguet, François F; Segrè, Ayellet V AV; Ardlie, Kristin G KG; Khera, Amit V AV; Kaushik, Virendar K VK; Natarajan, Pradeep P; , ; Kathiresan, Sekar S
Publication Date: 2017-09

Variant appearance in text: CCDC92: Ser70Cys; rs11057401
PubMed Link: 28714974
Variant Present in the following documents:
  • Main text
  • NIHMS885618-supplement-4.xlsx, sheet 1
  • nihms885618.pdf
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs11057401
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Principles Governing A-to-I RNA Editing in the Breast Cancer Transcriptome.

Cell Reports
Fumagalli, Debora D; Gacquer, David D; Rothé, Françoise F; Lefort, Anne A; Libert, Frederick F; Brown, David D; Kheddoumi, Naima N; Shlien, Adam A; Konopka, Tomasz T; Salgado, Roberto R; Larsimont, Denis D; Polyak, Kornelia K; Willard-Gallo, Karen K; Desmedt, Christine C; Piccart, Martine M; Abramowicz, Marc M; Campbell, Peter J PJ; Sotiriou, Christos C; Detours, Vincent V
Publication Date: 2015-10-13

Variant appearance in text: rs11057401
PubMed Link: 26440892
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: CCDC92: S70C
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 4
View BVdb publication page



Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget
Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S
Publication Date: 2015-06-20

Variant appearance in text: CCDC92: S70C; rs11057401
PubMed Link: 25944692
Variant Present in the following documents:
  • oncotarget-06-15375-s005.xlsx, sheet 2
View BVdb publication page



Whole-exome sequencing of pancreatic cancer defines genetic diversity and therapeutic targets.

Nature Communications
Witkiewicz, Agnieszka K AK; McMillan, Elizabeth A EA; Balaji, Uthra U; Baek, GuemHee G; Lin, Wan-Chi WC; Mansour, John J; Mollaee, Mehri M; Wagner, Kay-Uwe KU; Koduru, Prasad P; Yopp, Adam A; Choti, Michael A MA; Yeo, Charles J CJ; McCue, Peter P; White, Michael A MA; Knudsen, Erik S ES
Publication Date: 2015-04-09

Variant appearance in text: CCDC92: S70C
PubMed Link: 25855536
Variant Present in the following documents:
  • ncomms7744-s2.xlsx, sheet 1
View BVdb publication page



Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.

Scientific Reports
Steinberg, Karyn Meltz KM; Yu, Bing B; Koboldt, Daniel C DC; Mardis, Elaine R ER; Pamphlett, Roger R
Publication Date: 2015-03-16

Variant appearance in text: rs11057401
PubMed Link: 25773295
Variant Present in the following documents:
  • srep09124-s2.xls, sheet 1
View BVdb publication page



Whole exome sequencing of a single osteosarcoma case--integrative analysis with whole transcriptome RNA-seq data.

Human Genomics
Reimann, Ene E; Kõks, Sulev S; Ho, Xuan Dung XD; Maasalu, Katre K; Märtson, Aare A
Publication Date: 2014-12-11

Variant appearance in text: CCDC92: S70C
PubMed Link: 25496518
Variant Present in the following documents:
  • 40246_2014_20_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: CCDC92: S70C; rs11057401
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Cancer Science
Nasuno, Tomomitsu T; Mimaki, Sachiyo S; Okamoto, Makito M; Esumi, Hiroyasu H; Tsuchihara, Katsuya K
Publication Date: 2014-02

Variant appearance in text: CCDC92: S70C; rs11057401
PubMed Link: 24219164
Variant Present in the following documents:
  • cas0105-0202-SD3.xlsx, sheet 1
View BVdb publication page



Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics
Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z
Publication Date: 2013

Variant appearance in text: rs11057401
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 2
View BVdb publication page



Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Nucleic Acids Research
Ryu, Gil-Mi GM; Song, Pamela P; Kim, Kyu-Won KW; Oh, Kyung-Soo KS; Park, Keun-Joon KJ; Kim, Jong Hun JH
Publication Date: 2009-03

Variant appearance in text: CCDC92: S70C; rs11057401
PubMed Link: 19139070
Variant Present in the following documents:
  • gkn1008_nar-01723-s-2008-File009.xls, sheet 1
View BVdb publication page