EGR1 c.152_153delinsAG ;(p.A51E)

Variant ID: 5-137801602-CC-AG

NM_001964.2(EGR1):c.152_153delinsAG;(p.A51E)

This variant was identified in 24 publications

View GRCh38 version.




Publications:


Deep learning model accurately classifies metastatic tumors from primary tumors based on mutational signatures.

Scientific Reports
Zheng, Weisheng W; Pu, Mengchen M; Li, Xiaorong X; Du, Zhaolan Z; Jin, Sutong S; Li, Xingshuai X; Zhou, Jielong J; Zhang, Yingsheng Y
Publication Date: 2023-05-30

Variant appearance in text: 225: A51E
PubMed Link: 37253775
Variant Present in the following documents:
  • 41598_2023_35842_MOESM8_ESM.xlsx, sheet 2
  • 41598_2023_35842_MOESM8_ESM.xlsx, sheet 4
View BVdb publication page



Somatic mutation distribution across tumour cohorts provides a signal for positive selection in cancer.

Nature Communications
Boström, Martin M; Larsson, Erik E
Publication Date: 2022-11-17

Variant appearance in text: 225: A51E
PubMed Link: 36396655
Variant Present in the following documents:
  • 41467_2022_34746_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Two subtypes of cutaneous melanoma with distinct mutational signatures and clinico-genomic characteristics.

Frontiers In Genetics
Kim, Yoon-Seob YS; Lee, Minho M; Chung, Yeun-Jun YJ
Publication Date: 2022

Variant appearance in text: 225: A51E
PubMed Link: 36246650
Variant Present in the following documents:
  • DataSheet2.xlsx, sheet 3
View BVdb publication page



P4HA1 Regulates CD31 via COL6A1 in the Transition of Glioblastoma Stem-Like Cells to Tumor Endothelioid Cells.

Frontiers In Oncology
Han, Xiangming X; Wang, Qiyan Q; Fang, Sheng S; Wang, Jialin J; Liu, Fusheng F; Zhang, Junwen J; Jin, Guishan G
Publication Date: 2022

Variant appearance in text: 225: a51e
PubMed Link: 35494018
Variant Present in the following documents:
  • Table_1.xlsx, sheet 1
View BVdb publication page



A platform for oncogenomic reporting and interpretation.

Nature Communications
Reisle, Caralyn C; Williamson, Laura M LM; Pleasance, Erin E; Davies, Anna A; Pellegrini, Brayden B; Bleile, Dustin W DW; Mungall, Karen L KL; Chuah, Eric E; Jones, Martin R MR; Ma, Yussanne Y; Lewis, Eleanor E; Beckie, Isaac I; Pham, David D; Matiello Pletz, Raphael R; Muhammadzadeh, Amir A; Pierce, Brandon M BM; Li, Jacky J; Stevenson, Ross R; Wong, Hansen H; Bailey, Lance L; Reisle, Abbey A; Douglas, Matthew M; Bonakdar, Melika M; Nelson, Jessica M T JMT; Grisdale, Cameron J CJ; Krzywinski, Martin M; Fisic, Ana A; Mitchell, Teresa T; Renouf, Daniel J DJ; Yip, Stephen S; Laskin, Janessa J; Marra, Marco A MA; Jones, Steven J M SJM
Publication Date: 2022-02-09

Variant appearance in text: 225: A51E
PubMed Link: 35140225
Variant Present in the following documents:
  • 41467_2022_28348_MOESM4_ESM.xlsx, sheet 9
View BVdb publication page



The spliceosome pathway activity correlates with reduced anti-tumor immunity and immunotherapy response, and unfavorable clinical outcomes in pan-cancer.

Computational And Structural Biotechnology Journal
Chen, Zuobing Z; Chen, Canping C; Li, Lin L; Zhang, Tianfang T; Wang, Xiaosheng X
Publication Date: 2021

Variant appearance in text: 225: A51E
PubMed Link: 34667536
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page



Long noncoding RNA SNHG1 promotes TERT expression by sponging miR-18b-5p in breast cancer.

Cell & Bioscience
Kang, Yujuan Y; Wan, Lin L; Wang, Qin Q; Yin, Yanling Y; Liu, Jiena J; Liu, Lei L; Wu, Hao H; Zhang, Lei L; Zhang, Xin X; Xu, Shouping S; Pang, Da D
Publication Date: 2021-08-31

Variant appearance in text: 225: A51E
PubMed Link: 34465388
Variant Present in the following documents:
  • 13578_2021_675_MOESM4_ESM.pdf
View BVdb publication page



Reprogramming of bivalent chromatin states in NRAS mutant melanoma suggests PRC2 inhibition as a therapeutic strategy.

Cell Reports
Terranova, Christopher J CJ; Tang, Ming M; Maitituoheti, Mayinuer M; Raman, Ayush T AT; Ghosh, Archit K AK; Schulz, Jonathan J; Amin, Samir B SB; Orouji, Elias E; Tomczak, Katarzyna K; Sarkar, Sharmistha S; Oba, Junna J; Creasy, Caitlin C; Wu, Chang-Jiun CJ; Khan, Samia S; Lazcano, Rossana R; Wani, Khalida K; Singh, Anand A; Barrodia, Praveen P; Zhao, Dongyu D; Chen, Kaifu K; Haydu, Lauren E LE; Wang, Wei-Lien WL; Lazar, Alexander J AJ; Woodman, Scott E SE; Bernatchez, Chantale C; Rai, Kunal K
Publication Date: 2021-07-20

Variant appearance in text: 225: A51E
PubMed Link: 34289358
Variant Present in the following documents:
  • NIHMS1727018-supplement-2.xlsx, sheet 1
View BVdb publication page



A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12

Variant appearance in text: 225: A51E
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 6
View BVdb publication page



LSTMCNNsucc: A Bidirectional LSTM and CNN-Based Deep Learning Method for Predicting Lysine Succinylation Sites.

Biomed Research International
Huang, Guohua G; Shen, Qingfeng Q; Zhang, Guiyang G; Wang, Pan P; Yu, Zu-Guo ZG
Publication Date: 2021

Variant appearance in text: 225: A51E
PubMed Link: 34159204
Variant Present in the following documents:
  • Main text
View BVdb publication page



Cis-regulatory mutations with driver hallmarks in major cancers.

Iscience
Cheng, Zhongshan Z; Vermeulen, Michael M; Rollins-Green, Micheal M; DeVeale, Brian B; Babak, Tomas T
Publication Date: 2021-03-19

Variant appearance in text: 225: a51e
PubMed Link: 33665563
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Genomic analysis of the prognostic effect of tumor-associated neutrophil-related genes across 15 solid cancer types: an immune perspective.

Annals Of Translational Medicine
Hao, Yuying Y; Hu, Pingping P; Zhang, Jiandong J
Publication Date: 2020-11

Variant appearance in text: 225: A51E
PubMed Link: 33313252
Variant Present in the following documents:
  • atm-08-22-1507-supplementary.pdf
View BVdb publication page



Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Publication Date: 2020-12

Variant appearance in text: 225: A51E
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.xlsx, sheet 1
View BVdb publication page



K-Ras-Activated Cells Can Develop into Lung Tumors When Runx3-Mediated Tumor Suppressor Pathways Are Abrogated.

Molecules And Cells
Lee, You-Soub YS; Lee, Ja-Yeol JY; Song, Soo-Hyun SH; Kim, Da-Mi DM; Lee, Jung-Won JW; Chi, Xin-Zi XZ; Ito, Yoshiaki Y; Bae, Suk-Chul SC
Publication Date: 2020-10-31

Variant appearance in text: 225: Ala51Glu
PubMed Link: 33115981
Variant Present in the following documents:
  • molce-43-889_Supple.xlsx, sheet 1
View BVdb publication page



The mutational landscape of melanoma brain metastases presenting as the first visceral site of recurrence.

British Journal Of Cancer
Rabbie, Roy R; Ferguson, Peter P; Wong, Kim K; Couturier, Dominique-Laurent DL; Moran, Una U; Turner, Clinton C; Emanuel, Patrick P; Haas, Kerstin K; Saunus, Jodi M JM; Davidson, Morgan R MR; Lakhani, Sunil R SR; Shivalingam, Brindha B; Long, Georgina V GV; Parkinson, Christine C; Osman, Iman I; Scolyer, Richard A RA; Corrie, Pippa P; Adams, David J DJ
Publication Date: 2021-01

Variant appearance in text: 225: A51E
PubMed Link: 33024263
Variant Present in the following documents:
  • 41416_2020_1090_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Prevalence of disease-causing genes in Japanese patients with BRCA1/2-wildtype hereditary breast and ovarian cancer syndrome.

Npj Breast Cancer
Kaneyasu, Tomoko T; Mori, Seiichi S; Yamauchi, Hideko H; Ohsumi, Shozo S; Ohno, Shinji S; Aoki, Daisuke D; Baba, Shinichi S; Kawano, Junko J; Miki, Yoshio Y; Matsumoto, Naomichi N; Nagasaki, Masao M; Yoshida, Reiko R; Akashi-Tanaka, Sadako S; Iwase, Takuji T; Kitagawa, Dai D; Masuda, Kenta K; Hirasawa, Akira A; Arai, Masami M; Takei, Junko J; Ide, Yoshimi Y; Gotoh, Osamu O; Yaguchi, Noriko N; Nishi, Mitsuyo M; Kaneko, Keika K; Matsuyama, Yumi Y; Okawa, Megumi M; Suzuki, Misato M; Nezu, Aya A; Yokoyama, Shiro S; Amino, Sayuri S; Inuzuka, Mayuko M; Noda, Tetsuo T; Nakamura, Seigo S
Publication Date: 2020

Variant appearance in text: 225: A51E
PubMed Link: 32566746
Variant Present in the following documents:
  • Main text
View BVdb publication page



Interplay between DNA damage repair and apoptosis shapes cancer evolution through aneuploidy and microsatellite instability.

Nature Communications
Auslander, Noam N; Wolf, Yuri I YI; Koonin, Eugene V EV
Publication Date: 2020-03-06

Variant appearance in text: 225: A51E
PubMed Link: 32144251
Variant Present in the following documents:
  • 41467_2020_15094_MOESM9_ESM.xlsx, sheet 1
View BVdb publication page



Predicting clinical benefit of immunotherapy by antigenic or functional mutations affecting tumour immunogenicity.

Nature Communications
Kim, Kwoneel K; Kim, Hong Sook HS; Kim, Jeong Yeon JY; Jung, Hyunchul H; Sun, Jong-Mu JM; Ahn, Jin Seok JS; Ahn, Myung-Ju MJ; Park, Keunchil K; Lee, Se-Hoon SH; Choi, Jung Kyoon JK
Publication Date: 2020-02-19

Variant appearance in text: 225: A51E
PubMed Link: 32075964
Variant Present in the following documents:
  • 41467_2020_14562_MOESM11_ESM.xlsx, sheet 13
View BVdb publication page



Integrated multi-omics analysis of genomics, epigenomics, and transcriptomics in ovarian carcinoma.

Aging
Zheng, Mingjun M; Hu, Yuexin Y; Gou, Rui R; Wang, Jing J; Nie, Xin X; Li, Xiao X; Liu, Qing Q; Liu, Juanjuan J; Lin, Bei B
Publication Date: 2019-06-29

Variant appearance in text: 225: a51e
PubMed Link: 31257224
Variant Present in the following documents:
  • aging-11-102047-s002.xlsx, sheet 1
View BVdb publication page



American Society of Hematology 2018 guidelines for management of venous thromboembolism: optimal management of anticoagulation therapy.

Blood Advances
Witt, Daniel M DM; Nieuwlaat, Robby R; Clark, Nathan P NP; Ansell, Jack J; Holbrook, Anne A; Skov, Jane J; Shehab, Nadine N; Mock, Juliet J; Myers, Tarra T; Dentali, Francesco F; Crowther, Mark A MA; Agarwal, Arnav A; Bhatt, Meha M; Khatib, Rasha R; Riva, John J JJ; Zhang, Yuan Y; Guyatt, Gordon G
Publication Date: 2018-11-27

Variant appearance in text: 225: a51e
PubMed Link: 30482765
Variant Present in the following documents:
  • Main text
View BVdb publication page



Loss and gain of N-linked glycosylation sequons due to single-nucleotide variation in cancer.

Scientific Reports
Fan, Yu Y; Hu, Yu Y; Yan, Cheng C; Goldman, Radoslav R; Pan, Yang Y; Mazumder, Raja R; Dingerdissen, Hayley M HM
Publication Date: 2018-03-12

Variant appearance in text: 225: A51E
PubMed Link: 29531238
Variant Present in the following documents:
  • 41598_2018_22345_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Mutation Clusters from Cancer Exome.

Genes
Kakushadze, Zura Z; Yu, Willie W
Publication Date: 2017-08-15

Variant appearance in text: 225: A51E
PubMed Link: 28809811
Variant Present in the following documents:
  • Main text
View BVdb publication page



Utility of Synechocystis sp. PCC 6803 glutaredoxin A as a platform to study high-resolution mutagenesis of proteins.

Frontiers In Plant Science
Knaff, David B DB; Sutton, Roger B RB
Publication Date: 2013

Variant appearance in text: 225: A51E
PubMed Link: 24298277
Variant Present in the following documents:
  • Main text
  • fpls-04-00461.pdf
View BVdb publication page