KMT2C c.14073C>A ;(p.Y4691*)

Variant ID: 7-151842339-G-T

NM_170606.2(KMT2C):c.14073C>A;(p.Y4691*)

This variant was identified in 12 publications

View GRCh38 version.




Publications:


Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells.

Human Genomics
Nassir, Nasna N; Bankapur, Asma A; Samara, Bisan B; Ali, Abdulrahman A; Ahmed, Awab A; Inuwa, Ibrahim M IM; Zarrei, Mehdi M; Safizadeh Shabestari, Seyed Ali SA; AlBanna, Ammar A; Howe, Jennifer L JL; Berdiev, Bakhrom K BK; Scherer, Stephen W SW; Woodbury-Smith, Marc M; Uddin, Mohammed M
Publication Date: 2021-11-21

Variant appearance in text: KMT2C: Y4691X; rs151023183
PubMed Link: 34802461
Variant Present in the following documents:
  • 40246_2021_368_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.

Molecular Neurobiology
Zhang, Yi Y; Wang, Tao T; Wang, Yan Y; Xia, Kun K; Li, Jinchen J; Sun, Zhongsheng Z
Publication Date: 2021-08

Variant appearance in text: KMT2C: 14073C>A; Y4691X
PubMed Link: 33860439
Variant Present in the following documents:
  • 12035_2021_2377_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page



De novo mutations in folate-related genes associated with common developmental disorders.

Computational And Structural Biotechnology Journal
Luo, Tengfei T; Li, Kuokuo K; Ling, Zhengbao Z; Zhao, Guihu G; Li, Bin B; Wang, Zheng Z; Wang, Xiaomeng X; Han, Ying Y; Xia, Lu L; Zhang, Yi Y; Zhou, Qiao Q; Fang, Zhenghuan Z; Wang, Yijing Y; Chen, Qian Q; Zhou, Xun X; Pan, Hongxu H; Zhao, Yuwen Y; Wang, Yige Y; Dong, Lijie L; Huang, Yuanfeng Y; Hu, Zhengmao Z; Pan, Qian Q; Xia, Kun K; Li, Jinchen J
Publication Date: 2021

Variant appearance in text: KMT2C: 14073C>A; Y4691X; rs151023183
PubMed Link: 33777337
Variant Present in the following documents:
  • mmc6.xlsx, sheet 1
View BVdb publication page



Targeted sequencing reveals the somatic mutation landscape in a Swedish breast cancer cohort.

Scientific Reports
Mathioudaki, Argyri A; Ljungström, Viktor V; Melin, Malin M; Arendt, Maja Louise ML; Nordin, Jessika J; Karlsson, Åsa Å; Murén, Eva E; Saksena, Pushpa P; Meadows, Jennifer R S JRS; Marinescu, Voichita D VD; Sjöblom, Tobias T; Lindblad-Toh, Kerstin K
Publication Date: 2020-11-09

Variant appearance in text: KMT2C: Y4691*
PubMed Link: 33168853
Variant Present in the following documents:
  • 41598_2020_74580_MOESM1_ESM.pdf
View BVdb publication page



Phase and context shape the function of composite oncogenic mutations.

Nature
Gorelick, Alexander N AN; Sánchez-Rivera, Francisco J FJ; Cai, Yanyan Y; Bielski, Craig M CM; Biederstedt, Evan E; Jonsson, Philip P; Richards, Allison L AL; Vasan, Neil N; Penson, Alexander V AV; Friedman, Noah D ND; Ho, Yu-Jui YJ; Baslan, Timour T; Bandlamudi, Chaitanya C; Scaltriti, Maurizio M; Schultz, Nikolaus N; Lowe, Scott W SW; Reznik, Ed E; Taylor, Barry S BS
Publication Date: 2020-06

Variant appearance in text: KMT2C: Y4691*
PubMed Link: 32461694
Variant Present in the following documents:
  • NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2
View BVdb publication page



Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.

Translational Psychiatry
Husson, Thomas T; Lecoquierre, François F; Cassinari, Kevin K; Charbonnier, Camille C; Quenez, Olivier O; Goldenberg, Alice A; Guerrot, Anne-Marie AM; Richard, Anne-Claire AC; Drouin-Garraud, Valérie V; Brehin, Anne-Claire AC; Soleimani, Maryam M; Taton, Romain R; Rotharmel, Maud M; Rosier, Antoine A; Chambon, Pascal P; Le Meur, Nathalie N; Joly-Helas, Géraldine G; Saugier-Veber, Pascale P; Boland, Anne A; Deleuze, Jean-François JF; Olaso, Robert R; Frebourg, Thierry T; Nicolas, Gael G; Guillin, Olivier O; Campion, Dominique D
Publication Date: 2020-02-24

Variant appearance in text: KMT2C: 14073C>A; Tyr4691*
PubMed Link: 32094338
Variant Present in the following documents:
  • 41398_2020_760_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Chromatin dysregulation and DNA methylation at transcription start sites associated with transcriptional repression in cancers.

Nature Communications
Ando, Mizuo M; Saito, Yuki Y; Xu, Guorong G; Bui, Nam Q NQ; Medetgul-Ernar, Kate K; Pu, Minya M; Fisch, Kathleen K; Ren, Shuling S; Sakai, Akihiro A; Fukusumi, Takahito T; Liu, Chao C; Haft, Sunny S; Pang, John J; Mark, Adam A; Gaykalova, Daria A DA; Guo, Theresa T; Favorov, Alexander V AV; Yegnasubramanian, Srinivasan S; Fertig, Elana J EJ; Ha, Patrick P; Tamayo, Pablo P; Yamasoba, Tatsuya T; Ideker, Trey T; Messer, Karen K; Califano, Joseph A JA
Publication Date: 2019-05-16

Variant appearance in text: KMT2C: Y4691X
PubMed Link: 31097695
Variant Present in the following documents:
  • 41467_2019_9937_MOESM8_ESM.xlsx, sheet 2
  • 41467_2019_9937_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page



Systematic reconstruction of autism biology from massive genetic mutation profiles.

Science Advances
Luo, Weijun W; Zhang, Chaolin C; Jiang, Yong-Hui YH; Brouwer, Cory R CR
Publication Date: 2018-04

Variant appearance in text: KMT2C: Y4691*
PubMed Link: 29651456
Variant Present in the following documents:
  • 1701799_TableS5.xlsx, sheet 2
View BVdb publication page



Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples.

Nature Genetics
Kosmicki, Jack A JA; Samocha, Kaitlin E KE; Howrigan, Daniel P DP; Sanders, Stephan J SJ; Slowikowski, Kamil K; Lek, Monkol M; Karczewski, Konrad J KJ; Cutler, David J DJ; Devlin, Bernie B; Roeder, Kathryn K; Buxbaum, Joseph D JD; Neale, Benjamin M BM; MacArthur, Daniel G DG; Wall, Dennis P DP; Robinson, Elise B EB; Daly, Mark J MJ
Publication Date: 2017-04

Variant appearance in text: KMT2C: 14073C>A; Tyr4691Ter
PubMed Link: 28191890
Variant Present in the following documents:
  • NIHMS845776-supplement-3.xlsx, sheet 1
View BVdb publication page



De novo genic mutations among a Chinese autism spectrum disorder cohort.

Nature Communications
Wang, Tianyun T; Guo, Hui H; Xiong, Bo B; Stessman, Holly A F HA; Wu, Huidan H; Coe, Bradley P BP; Turner, Tychele N TN; Liu, Yanling Y; Zhao, Wenjing W; Hoekzema, Kendra K; Vives, Laura L; Xia, Lu L; Tang, Meina M; Ou, Jianjun J; Chen, Biyuan B; Shen, Yidong Y; Xun, Guanglei G; Long, Min M; Lin, Janice J; Kronenberg, Zev N ZN; Peng, Yu Y; Bai, Ting T; Li, Honghui H; Ke, Xiaoyan X; Hu, Zhengmao Z; Zhao, Jingping J; Zou, Xiaobing X; Xia, Kun K; Eichler, Evan E EE
Publication Date: 2016-11-08

Variant appearance in text: N/A
PubMed Link: 27824329
Variant Present in the following documents:
View BVdb publication page



Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia.

Nature Neuroscience
Genovese, Giulio G; Fromer, Menachem M; Stahl, Eli A EA; Ruderfer, Douglas M DM; Chambert, Kimberly K; Landén, Mikael M; Moran, Jennifer L JL; Purcell, Shaun M SM; Sklar, Pamela P; Sullivan, Patrick F PF; Hultman, Christina M CM; McCarroll, Steven A SA
Publication Date: 2016-11

Variant appearance in text: MLL3: Y4691*; rs151023183
PubMed Link: 27694994
Variant Present in the following documents:
  • NIHMS815183-supplement-supp_table7.xlsx, sheet 1
View BVdb publication page



Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.

Nature
O'Roak, Brian J BJ; Vives, Laura L; Girirajan, Santhosh S; Karakoc, Emre E; Krumm, Niklas N; Coe, Bradley P BP; Levy, Roie R; Ko, Arthur A; Lee, Choli C; Smith, Joshua D JD; Turner, Emily H EH; Stanaway, Ian B IB; Vernot, Benjamin B; Malig, Maika M; Baker, Carl C; Reilly, Beau B; Akey, Joshua M JM; Borenstein, Elhanan E; Rieder, Mark J MJ; Nickerson, Deborah A DA; Bernier, Raphael R; Shendure, Jay J; Eichler, Evan E EE
Publication Date: 2012-04-04

Variant appearance in text: MLL3: TYR4691TER
PubMed Link: 22495309
Variant Present in the following documents:
  • Main text
  • nihms359279.pdf
View BVdb publication page