SP140 c.59+605T>G

Variant ID: 2-231091223-T-G

NM_007237.4(SP140):c.59+605T>G

This variant was identified in 32 publications

View GRCh38 version.




Publications:


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: rs13397985
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
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Blood cancer health disparities in the United States Hispanic population.

Cold Spring Harbor Molecular Case Studies
Bencomo-Alvarez, Alfonso E AE; Rubio, Andres J AJ; Gonzalez, Mayra A MA; Eiring, Anna M AM
Publication Date: 2021-04

Variant appearance in text: rs13397985
PubMed Link: 33593728
Variant Present in the following documents:
  • Main text
  • MCS005967Ben.pdf
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Tracking the Genetic Susceptibility Background of B-Cell Non-Hodgkin's Lymphomas from Genome-Wide Association Studies.

International Journal Of Molecular Sciences
Hernández-Verdin, Isaias I; Labreche, Karim K; Benazra, Marion M; Mokhtari, Karima K; Hoang-Xuan, Khê K; Alentorn, Agusti A
Publication Date: 2020-12-24

Variant appearance in text: rs13397985
PubMed Link: 33374413
Variant Present in the following documents:
  • Main text
  • ijms-22-00122.pdf
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Multiomics dissection of molecular regulatory mechanisms underlying autoimmune-associated noncoding SNPs.

Jci Insight
Chen, Xiao-Feng XF; Guo, Ming-Rui MR; Duan, Yuan-Yuan YY; Jiang, Feng F; Wu, Hao H; Dong, Shan-Shan SS; Zhou, Xiao-Rong XR; Thynn, Hlaing Nwe HN; Liu, Cong-Cong CC; Zhang, Lin L; Guo, Yan Y; Yang, Tie-Lin TL
Publication Date: 2020-09-03

Variant appearance in text: rs13397985
PubMed Link: 32879140
Variant Present in the following documents:
  • jciinsight-5-136477-s105.xlsx, sheet 5
View BVdb publication page



Evidence of a Causal Association Between Cancer and Alzheimer's Disease: a Mendelian Randomization Analysis.

Scientific Reports
Seddighi, Sahba S; Houck, Alexander L AL; Rowe, James B JB; Pharoah, Paul D P PDP
Publication Date: 2019-09-19

Variant appearance in text: rs13397985
PubMed Link: 31537833
Variant Present in the following documents:
  • 41598_2019_49795_MOESM1_ESM.pdf
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Insights into clonal haematopoiesis from 8,342 mosaic chromosomal alterations.

Nature
Loh, Po-Ru PR; Genovese, Giulio G; Handsaker, Robert E RE; Finucane, Hilary K HK; Reshef, Yakir A YA; Palamara, Pier Francesco PF; Birmann, Brenda M BM; Talkowski, Michael E ME; Bakhoum, Samuel F SF; McCarroll, Steven A SA; Price, Alkes L AL
Publication Date: 2018-07

Variant appearance in text: rs13397985
PubMed Link: 29995854
Variant Present in the following documents:
  • NIHMS968664-supplement-Supplementary_Notes_and_Tables.pdf
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The Expanding Landscape of Alternative Splicing Variation in Human Populations.

American Journal Of Human Genetics
Park, Eddie E; Pan, Zhicheng Z; Zhang, Zijun Z; Lin, Lan L; Xing, Yi Y
Publication Date: 2018-01-04

Variant appearance in text: rs13397985
PubMed Link: 29304370
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



Maintenance of macrophage transcriptional programs and intestinal homeostasis by epigenetic reader SP140.

Science Immunology
Mehta, Stuti S; Cronkite, D Alexander DA; Basavappa, Megha M; Saunders, Tahnee L TL; Adiliaghdam, Fatemeh F; Amatullah, Hajera H; Morrison, Sara A SA; Pagan, Jose D JD; Anthony, Robert M RM; Tonnerre, Pierre P; Lauer, Georg M GM; Lee, James C JC; Digumarthi, Sreehaas S; Pantano, Lorena L; Ho Sui, Shannan J SJ; Ji, Fei F; Sadreyev, Ruslan R; Zhou, Chan C; Mullen, Alan C AC; Kumar, Vinod V; Li, Yang Y; Wijmenga, Cisca C; Xavier, Ramnik J RJ; Means, Terry K TK; Jeffrey, Kate L KL
Publication Date: 2017-03-03

Variant appearance in text: rs13397985
PubMed Link: 28783698
Variant Present in the following documents:
  • Main text
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Fine-mapping inflammatory bowel disease loci to single-variant resolution.

Nature
Huang, Hailiang H; Fang, Ming M; Jostins, Luke L; Umićević Mirkov, Maša M; Boucher, Gabrielle G; Anderson, Carl A CA; Andersen, Vibeke V; Cleynen, Isabelle I; Cortes, Adrian A; Crins, François F; D'Amato, Mauro M; Deffontaine, Valérie V; Dmitrieva, Julia J; Docampo, Elisa E; Elansary, Mahmoud M; Farh, Kyle Kai-How KK; Franke, Andre A; Gori, Ann-Stephan AS; Goyette, Philippe P; Halfvarson, Jonas J; Haritunians, Talin T; Knight, Jo J; Lawrance, Ian C IC; Lees, Charlie W CW; Louis, Edouard E; Mariman, Rob R; Meuwissen, Theo T; Mni, Myriam M; Momozawa, Yukihide Y; Parkes, Miles M; Spain, Sarah L SL; Théâtre, Emilie E; Trynka, Gosia G; Satsangi, Jack J; van Sommeren, Suzanne S; Vermeire, Severine S; Xavier, Ramnik J RJ; , ; Weersma, Rinse K RK; Duerr, Richard H RH; Mathew, Christopher G CG; Rioux, John D JD; McGovern, Dermot P B DPB; Cho, Judy H JH; Georges, Michel M; Daly, Mark J MJ; Barrett, Jeffrey C JC
Publication Date: 2017-07-13

Variant appearance in text: rs13397985
PubMed Link: 28658209
Variant Present in the following documents:
  • NIHMS72714-supplement-Supplementary_Table_1.xlsx, sheet 2
View BVdb publication page



Genome-wide association analysis implicates dysregulation of immunity genes in chronic lymphocytic leukaemia.

Nature Communications
Law, Philip J PJ; Berndt, Sonja I SI; Speedy, Helen E HE; Camp, Nicola J NJ; Sava, Georgina P GP; Skibola, Christine F CF; Holroyd, Amy A; Joseph, Vijai V; Sunter, Nicola J NJ; Nieters, Alexandra A; Bea, Silvia S; Monnereau, Alain A; Martin-Garcia, David D; Goldin, Lynn R LR; Clot, Guillem G; Teras, Lauren R LR; Quintela, Inés I; Birmann, Brenda M BM; Jayne, Sandrine S; Cozen, Wendy W; Majid, Aneela A; Smedby, Karin E KE; Lan, Qing Q; Dearden, Claire C; Brooks-Wilson, Angela R AR; Hall, Andrew G AG; Purdue, Mark P MP; Mainou-Fowler, Tryfonia T; Vajdic, Claire M CM; Jackson, Graham H GH; Cocco, Pierluigi P; Marr, Helen H; Zhang, Yawei Y; Zheng, Tongzhang T; Giles, Graham G GG; Lawrence, Charles C; Call, Timothy G TG; Liebow, Mark M; Melbye, Mads M; Glimelius, Bengt B; Mansouri, Larry L; Glenn, Martha M; Curtin, Karen K; Diver, W Ryan WR; Link, Brian K BK; Conde, Lucia L; Bracci, Paige M PM; Holly, Elizabeth A EA; Jackson, Rebecca D RD; Tinker, Lesley F LF; Benavente, Yolanda Y; Boffetta, Paolo P; Brennan, Paul P; Maynadie, Marc M; McKay, James J; Albanes, Demetrius D; Weinstein, Stephanie S; Wang, Zhaoming Z; Caporaso, Neil E NE; Morton, Lindsay M LM; Severson, Richard K RK; Riboli, Elio E; Vineis, Paolo P; Vermeulen, Roel C H RC; Southey, Melissa C MC; Milne, Roger L RL; Clavel, Jacqueline J; Topka, Sabine S; Spinelli, John J JJ; Kraft, Peter P; Ennas, Maria Grazia MG; Summerfield, Geoffrey G; Ferri, Giovanni M GM; Harris, Robert J RJ; Miligi, Lucia L; Pettitt, Andrew R AR; North, Kari E KE; Allsup, David J DJ; Fraumeni, Joseph F JF; Bailey, James R JR; Offit, Kenneth K; Pratt, Guy G; Hjalgrim, Henrik H; Pepper, Chris C; Chanock, Stephen J SJ; Fegan, Chris C; Rosenquist, Richard R; de Sanjose, Silvia S; Carracedo, Angel A; Dyer, Martin J S MJ; Catovsky, Daniel D; Campo, Elias E; Cerhan, James R JR; Allan, James M JM; Rothman, Nathanial N; Houlston, Richard R; Slager, Susan S
Publication Date: 2017-02-06

Variant appearance in text: rs13397985
PubMed Link: 28165464
Variant Present in the following documents:
  • ncomms14175-s1.pdf
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Familial predisposition and genetic risk factors for lymphoma.

Blood
Cerhan, James R JR; Slager, Susan L SL
Publication Date: 2015-11-12

Variant appearance in text: rs13397985
PubMed Link: 26405224
Variant Present in the following documents:
  • Main text
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Functional annotation of HOT regions in the human genome: implications for human disease and cancer.

Scientific Reports
Li, Hao H; Chen, Hebing H; Liu, Feng F; Ren, Chao C; Wang, Shengqi S; Bo, Xiaochen X; Shu, Wenjie W
Publication Date: 2015-06-26

Variant appearance in text: rs13397985
PubMed Link: 26113264
Variant Present in the following documents:
  • Main text
  • srep11633.pdf
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Monoclonal B-cell lymphocytosis and early-stage chronic lymphocytic leukemia: diagnosis, natural history, and risk stratification.

Blood
Strati, Paolo P; Shanafelt, Tait D TD
Publication Date: 2015-07-23

Variant appearance in text: rs13397985
PubMed Link: 26065657
Variant Present in the following documents:
  • Main text
View BVdb publication page



A genome-wide "pleiotropy scan" does not identify new susceptibility loci for estrogen receptor negative breast cancer.

Plos One
Campa, Daniele D; Barrdahl, Myrto M; Tsilidis, Konstantinos K KK; Severi, Gianluca G; Diver, W Ryan WR; Siddiq, Afshan A; Chanock, Stephen S; Hoover, Robert N RN; Ziegler, Regina G RG; Berg, Christine D CD; Buys, Saundra S SS; Haiman, Christopher A CA; Henderson, Brian E BE; Schumacher, Fredrick R FR; Le Marchand, Loïc L; Flesch-Janys, Dieter D; Lindström, Sara S; Hunter, David J DJ; Hankinson, Susan E SE; Willett, Walter C WC; Kraft, Peter P; Cox, David G DG; Khaw, Kay-Tee KT; Tjønneland, Anne A; Dossus, Laure L; Trichopoulos, Dimitrios D; Panico, Salvatore S; van Gils, Carla H CH; Weiderpass, Elisabete E; Barricarte, Aurelio A; Sund, Malin M; Gaudet, Mia M MM; Giles, Graham G; Southey, Melissa M; Baglietto, Laura L; Chang-Claude, Jenny J; Kaaks, Rudolf R; Canzian, Federico F
Publication Date: 2014

Variant appearance in text: rs13397985
PubMed Link: 24523857
Variant Present in the following documents:
  • Main text
  • pone.0085955.pdf
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Genetic susceptibility to chronic lymphocytic leukemia.

Seminars In Hematology
Slager, Susan L SL; Caporaso, Neil E NE; de Sanjose, Silvia S; Goldin, Lynn R LR
Publication Date: 2013-10

Variant appearance in text: rs13397985
PubMed Link: 24246697
Variant Present in the following documents:
  • Main text
View BVdb publication page



GLiMMPS: robust statistical model for regulatory variation of alternative splicing using RNA-seq data.

Genome Biology
Zhao, Keyan K; Lu, Zhi-xiang ZX; Park, Juw Won JW; Zhou, Qing Q; Xing, Yi Y
Publication Date: 2013-07-22

Variant appearance in text: rs13397985
PubMed Link: 23876401
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic differences between Asian and Caucasian chronic lymphocytic leukemia.

International Journal Of Oncology
Kawamata, Norihiko N; Moreilhon, Chimene C; Saitoh, Takayuki T; Karasawa, Masamitsu M; Bernstein, Brian K BK; Sato-Otsubo, Aiko A; Ogawa, Seishi S; Raynaud, Sophie S; Koeffler, H Phillip HP
Publication Date: 2013-08

Variant appearance in text: rs13397985
PubMed Link: 23708256
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genomic approaches to chronic lymphocytic leukemia.

Hematology/Oncology Clinics Of North America
Improgo, Ma Reina MR; Brown, Jennifer R JR
Publication Date: 2013-04

Variant appearance in text: rs13397985
PubMed Link: 23561468
Variant Present in the following documents:
  • Main text
View BVdb publication page



Current understanding of lifestyle and environmental factors and risk of non-hodgkin lymphoma: an epidemiological update.

Journal Of Cancer Epidemiology
Bassig, Bryan A BA; Lan, Qing Q; Rothman, Nathaniel N; Zhang, Yawei Y; Zheng, Tongzhang T
Publication Date: 2012

Variant appearance in text: rs13397985
PubMed Link: 23008714
Variant Present in the following documents:
  • Main text
  • JCE2012-978930.pdf
View BVdb publication page



Single nucleotide polymorphisms and inherited risk of chronic lymphocytic leukemia among African Americans.

Blood
Coombs, Catherine C CC; Rassenti, Laura Z LZ; Falchi, Lorenzo L; Slager, Susan L SL; Strom, Sara S SS; Ferrajoli, Alessandra A; Weinberg, J Brice JB; Kipps, Thomas J TJ; Lanasa, Mark C MC
Publication Date: 2012-08-23

Variant appearance in text: rs13397985
PubMed Link: 22745306
Variant Present in the following documents:
  • Main text
View BVdb publication page



Post-GWAS functional characterization of susceptibility variants for chronic lymphocytic leukemia.

Plos One
Sillé, Fenna C M FC; Thomas, Reuben R; Smith, Martyn T MT; Conde, Lucia L; Skibola, Christine F CF
Publication Date: 2012

Variant appearance in text: rs13397985
PubMed Link: 22235315
Variant Present in the following documents:
  • Main text
  • pone.0029632.pdf
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Association between single nucleotide polymorphism-genotype and outcome of patients with chronic lymphocytic leukemia in a randomized chemotherapy trial.

Haematologica
Wade, Rachel R; Di Bernardo, Maria Chiara MC; Richards, Sue S; Rossi, Davide D; Crowther-Swanepoel, Dalemari D; Gaidano, Gianluca G; Oscier, David G DG; Catovsky, Daniel D; Houlston, Richard S RS
Publication Date: 2011-10

Variant appearance in text: rs13397985
PubMed Link: 21659360
Variant Present in the following documents:
  • Main text
View BVdb publication page



What are genome-wide association studies telling us about B-cell tumor development?

Oncotarget
Sherborne, Amy L AL; Houlston, Richard S RS
Publication Date: 2010-09

Variant appearance in text: rs13397985
PubMed Link: 21307401
Variant Present in the following documents:
  • Main text
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[Recent progress in genetic variants associated with cancer and their implications in diagnostics development].

Zhongguo Fei Ai Za Zhi = Chinese Journal Of Lung Cancer
Cho, William C S WC
Publication Date: 2011-01

Variant appearance in text: rs13397985
PubMed Link: 21219822
Variant Present in the following documents:
  • Main text
  • zgfazz-14-1-C1.pdf
View BVdb publication page



Genome-wide association study identifies a novel susceptibility locus at 6p21.3 among familial CLL.

Blood
Slager, Susan L SL; Rabe, Kari G KG; Achenbach, Sara J SJ; Vachon, Celine M CM; Goldin, Lynn R LR; Strom, Sara S SS; Lanasa, Mark C MC; Spector, Logan G LG; Rassenti, Laura Z LZ; Leis, Jose F JF; Camp, Nicola J NJ; Glenn, Martha M; Kay, Neil E NE; Cunningham, Julie M JM; Hanson, Curtis A CA; Marti, Gerald E GE; Weinberg, J Brice JB; Morrison, Vicki A VA; Link, Brian K BK; Call, Timothy G TG; Caporaso, Neil E NE; Cerhan, James R JR
Publication Date: 2011-02-10

Variant appearance in text: rs13397985
PubMed Link: 21131588
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide association studies of cancer.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology
Stadler, Zsofia K ZK; Thom, Peter P; Robson, Mark E ME; Weitzel, Jeffrey N JN; Kauff, Noah D ND; Hurley, Karen E KE; Devlin, Vincent V; Gold, Bert B; Klein, Robert J RJ; Offit, Kenneth K
Publication Date: 2010-09-20

Variant appearance in text: rs13397985
PubMed Link: 20585100
Variant Present in the following documents:
  • Main text
View BVdb publication page



Familial chronic lymphocytic leukemia.

Current Opinion In Hematology
Goldin, Lynn R LR; Slager, Susan L SL; Caporaso, Neil E NE
Publication Date: 2010-07

Variant appearance in text: rs13397985
PubMed Link: 20389242
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic susceptibility variants for chronic lymphocytic leukemia.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Slager, Susan L SL; Goldin, Lynn R LR; Strom, Sara S SS; Lanasa, Mark C MC; Spector, Logan G LG; Rassenti, Laura L; Leis, Jose F JF; Camp, Nicola J NJ; Kay, Neil E NE; Vachon, Celine M CM; Glenn, Martha M; Weinberg, J Brice JB; Rabe, Kari G KG; Cunningham, Julie M JM; Achenbach, Sara J SJ; Hanson, Curtis A CA; Marti, Gerald E GE; Call, Timothy G TG; Caporaso, Neil E NE; Cerhan, James R JR
Publication Date: 2010-04

Variant appearance in text: rs13397985
PubMed Link: 20332261
Variant Present in the following documents:
  • Main text
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Common variants at 2q37.3, 8q24.21, 15q21.3 and 16q24.1 influence chronic lymphocytic leukemia risk.

Nature Genetics
Crowther-Swanepoel, Dalemari D; Broderick, Peter P; Di Bernardo, Maria Chiara MC; Dobbins, Sara E SE; Torres, María M; Mansouri, Mahmoud M; Ruiz-Ponte, Clara C; Enjuanes, Anna A; Rosenquist, Richard R; Carracedo, Angel A; Jurlander, Jesper J; Campo, Elias E; Juliusson, Gunnar G; Montserrat, Emilio E; Smedby, Karin E KE; Dyer, Martin J S MJ; Matutes, Estella E; Dearden, Claire C; Sunter, Nicola J NJ; Hall, Andrew G AG; Mainou-Fowler, Tryfonia T; Jackson, Graham H GH; Summerfield, Geoffrey G; Harris, Robert J RJ; Pettitt, Andrew R AR; Allsup, David J DJ; Bailey, James R JR; Pratt, Guy G; Pepper, Chris C; Fegan, Chris C; Parker, Anton A; Oscier, David D; Allan, James M JM; Catovsky, Daniel D; Houlston, Richard S RS
Publication Date: 2010-02

Variant appearance in text: rs13397985
PubMed Link: 20062064
Variant Present in the following documents:
  • Main text
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Genetic variants at 6p21.33 are associated with susceptibility to follicular lymphoma.

Nature Genetics
Skibola, Christine F CF; Bracci, Paige M PM; Halperin, Eran E; Conde, Lucia L; Craig, David W DW; Agana, Luz L; Iyadurai, Kelly K; Becker, Nikolaus N; Brooks-Wilson, Angela A; Curry, John D JD; Spinelli, John J JJ; Holly, Elizabeth A EA; Riby, Jacques J; Zhang, Luoping L; Nieters, Alexandra A; Smith, Martyn T MT; Brown, Kevin M KM
Publication Date: 2009-08

Variant appearance in text: rs13397985
PubMed Link: 19620980
Variant Present in the following documents:
  • Main text
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Identifying relationships among genomic disease regions: predicting genes at pathogenic SNP associations and rare deletions.

Plos Genetics
Raychaudhuri, Soumya S; Plenge, Robert M RM; Rossin, Elizabeth J EJ; Ng, Aylwin C Y AC; , ; Purcell, Shaun M SM; Sklar, Pamela P; Scolnick, Edward M EM; Xavier, Ramnik J RJ; Altshuler, David D; Daly, Mark J MJ
Publication Date: 2009-06

Variant appearance in text: rs13397985
PubMed Link: 19557189
Variant Present in the following documents:
View BVdb publication page



The molecular basis of familial chronic lymphocytic leukemia.

Haematologica
Crowther-Swanepoel, Dalemari D; Houlston, Richard S RS
Publication Date: 2009-05

Variant appearance in text: rs13397985
PubMed Link: 19407315
Variant Present in the following documents:
  • Main text
View BVdb publication page