SP140 c.1057+1098C>T

Variant ID: 2-231116874-C-T

NM_007237.4(SP140):c.1057+1098C>T

This variant was identified in 12 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: rs7423615
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Epigenome-metabolome-microbiome axis in health and IBD.

Current Opinion In Microbiology
Amatullah, Hajera H; Jeffrey, Kate L KL
Publication Date: 2020-08

Variant appearance in text: rs7423615
PubMed Link: 32920333
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs7423615
PubMed Link: 32879140
Variant Present in the following documents:
  • jciinsight-5-136477-s105.xlsx, sheet 5
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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: rs7423615
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: rs7423615
PubMed Link: 28783698
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs7423615
PubMed Link: 28658209
Variant Present in the following documents:
  • NIHMS72714-supplement-Supplementary_Table_1.xlsx, sheet 2
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Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells.

Cell
Chen, Lu L; Ge, Bing B; Casale, Francesco Paolo FP; Vasquez, Louella L; Kwan, Tony T; Garrido-Martín, Diego D; Watt, Stephen S; Yan, Ying Y; Kundu, Kousik K; Ecker, Simone S; Datta, Avik A; Richardson, David D; Burden, Frances F; Mead, Daniel D; Mann, Alice L AL; Fernandez, Jose Maria JM; Rowlston, Sophia S; Wilder, Steven P SP; Farrow, Samantha S; Shao, Xiaojian X; Lambourne, John J JJ; Redensek, Adriana A; Albers, Cornelis A CA; Amstislavskiy, Vyacheslav V; Ashford, Sofie S; Berentsen, Kim K; Bomba, Lorenzo L; Bourque, Guillaume G; Bujold, David D; Busche, Stephan S; Caron, Maxime M; Chen, Shu-Huang SH; Cheung, Warren W; Delaneau, Oliver O; Dermitzakis, Emmanouil T ET; Elding, Heather H; Colgiu, Irina I; Bagger, Frederik O FO; Flicek, Paul P; Habibi, Ehsan E; Iotchkova, Valentina V; Janssen-Megens, Eva E; Kim, Bowon B; Lehrach, Hans H; Lowy, Ernesto E; Mandoli, Amit A; Matarese, Filomena F; Maurano, Matthew T MT; Morris, John A JA; Pancaldi, Vera V; Pourfarzad, Farzin F; Rehnstrom, Karola K; Rendon, Augusto A; Risch, Thomas T; Sharifi, Nilofar N; Simon, Marie-Michelle MM; Sultan, Marc M; Valencia, Alfonso A; Walter, Klaudia K; Wang, Shuang-Yin SY; Frontini, Mattia M; Antonarakis, Stylianos E SE; Clarke, Laura L; Yaspo, Marie-Laure ML; Beck, Stephan S; Guigo, Roderic R; Rico, Daniel D; Martens, Joost H A JHA; Ouwehand, Willem H WH; Kuijpers, Taco W TW; Paul, Dirk S DS; Stunnenberg, Hendrik G HG; Stegle, Oliver O; Downes, Kate K; Pastinen, Tomi T; Soranzo, Nicole N
Publication Date: 2016-11-17

Variant appearance in text: rs7423615
PubMed Link: 27863251
Variant Present in the following documents:
  • Main text
  • main.pdf
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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: rs7423615
PubMed Link: 23876401
Variant Present in the following documents:
  • Main text
View BVdb publication page



A novel approach to detect cumulative genetic effects and genetic interactions in Crohn's disease.

Inflammatory Bowel Diseases
Wang, Ming-Hsi MH; Fiocchi, Claudio C; Ripke, Stephan S; Zhu, Xiaofeng X; Duerr, Richard H RH; Achkar, Jean-Paul JP
Publication Date: 2013-08

Variant appearance in text: rs7423615
PubMed Link: 23598818
Variant Present in the following documents:
  • Main text
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Sex-specific differences in effect size estimates at established complex trait loci.

International Journal Of Epidemiology
Orozco, Gisela G; Ioannidis, John P A JP; Morris, Andrew A; Zeggini, Eleftheria E; ,
Publication Date: 2012-10

Variant appearance in text: rs7423615
PubMed Link: 22825589
Variant Present in the following documents:
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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: rs7423615
PubMed Link: 22235315
Variant Present in the following documents:
  • Main text
  • pone.0029632.pdf
View BVdb publication page



Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.

Nature Genetics
Franke, Andre A; McGovern, Dermot P B DP; Barrett, Jeffrey C JC; Wang, Kai K; Radford-Smith, Graham L GL; Ahmad, Tariq T; Lees, Charlie W CW; Balschun, Tobias T; Lee, James J; Roberts, Rebecca R; Anderson, Carl A CA; Bis, Joshua C JC; Bumpstead, Suzanne S; Ellinghaus, David D; Festen, Eleonora M EM; Georges, Michel M; Green, Todd T; Haritunians, Talin T; Jostins, Luke L; Latiano, Anna A; Mathew, Christopher G CG; Montgomery, Grant W GW; Prescott, Natalie J NJ; Raychaudhuri, Soumya S; Rotter, Jerome I JI; Schumm, Philip P; Sharma, Yashoda Y; Simms, Lisa A LA; Taylor, Kent D KD; Whiteman, David D; Wijmenga, Cisca C; Baldassano, Robert N RN; Barclay, Murray M; Bayless, Theodore M TM; Brand, Stephan S; Büning, Carsten C; Cohen, Albert A; Colombel, Jean-Frederick JF; Cottone, Mario M; Stronati, Laura L; Denson, Ted T; De Vos, Martine M; D'Inca, Renata R; Dubinsky, Marla M; Edwards, Cathryn C; Florin, Tim T; Franchimont, Denis D; Gearry, Richard R; Glas, Jürgen J; Van Gossum, Andre A; Guthery, Stephen L SL; Halfvarson, Jonas J; Verspaget, Hein W HW; Hugot, Jean-Pierre JP; Karban, Amir A; Laukens, Debby D; Lawrance, Ian I; Lemann, Marc M; Levine, Arie A; Libioulle, Cecile C; Louis, Edouard E; Mowat, Craig C; Newman, William W; Panés, Julián J; Phillips, Anne A; Proctor, Deborah D DD; Regueiro, Miguel M; Russell, Richard R; Rutgeerts, Paul P; Sanderson, Jeremy J; Sans, Miquel M; Seibold, Frank F; Steinhart, A Hillary AH; Stokkers, Pieter C F PC; Torkvist, Leif L; Kullak-Ublick, Gerd G; Wilson, David D; Walters, Thomas T; Targan, Stephan R SR; Brant, Steven R SR; Rioux, John D JD; D'Amato, Mauro M; Weersma, Rinse K RK; Kugathasan, Subra S; Griffiths, Anne M AM; Mansfield, John C JC; Vermeire, Severine S; Duerr, Richard H RH; Silverberg, Mark S MS; Satsangi, Jack J; Schreiber, Stefan S; Cho, Judy H JH; Annese, Vito V; Hakonarson, Hakon H; Daly, Mark J MJ; Parkes, Miles M
Publication Date: 2010-12

Variant appearance in text: rs7423615
PubMed Link: 21102463
Variant Present in the following documents:
  • Main text
View BVdb publication page