EHBP1 c.*89T>C

Variant ID: 2-63272724-T-C

NM_001142616.1(EHBP1):c.*89T>C

This variant was identified in 15 publications

View GRCh38 version.




Publications:


Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-29

Variant appearance in text: rs2018650
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



JAK-STAT signaling in inflammatory breast cancer enables chemotherapy-resistant cell states.

Cancer Research
Stevens, Laura E LE; Peluffo, Guillermo G; Qiu, Xintao X; Temko, Daniel D; Fassl, Anne A; Li, Zheqi Z; Trinh, Anne A; Seehawer, Marco M; Jovanovic, Bojana B; Aleckovic, Masa M; Wilde, Callahan M CM; Geck, Renee C RC; Shu, Shaokun S; Kingston, Natalie L NL; Harper, Nicholas W NW; Almendro, Vanessa V; Pyke, Alanna L AL; Egri, Shawn B SB; Papanastasiou, Malvina M; Clement, Kendell K; Zhou, Ningxuan N; Walker, Sarah S; Salas, Jacqueline J; Park, So Yeon SY; Frank, David A DA; Meissner, Alexander A; Jaffe, Jacob D JD; Sicinski, Piotr P; Toker, Alex A; Michor, Franziska F; Long, Henry W HW; Overmoyer, Beth A BA; Polyak, Kornelia K
Publication Date: 2022-11-21

Variant appearance in text: rs2018650
PubMed Link: 36409824
Variant Present in the following documents:
  • can-22-0423_supplementary_table_s3_suppst3.xlsx, sheet 1
View BVdb publication page



Systematic Review and Bioinformatic Analysis of microRNA Expression in Autism Spectrum Disorder Identifies Pathways Associated With Cancer, Metabolism, Cell Signaling, and Cell Adhesion.

Frontiers In Psychiatry
Huang, Zhi-Xiong ZX; Chen, Yanhui Y; Guo, Hong-Ru HR; Chen, Guo-Feng GF
Publication Date: 2021

Variant appearance in text: rs2018650
PubMed Link: 34744804
Variant Present in the following documents:
  • Table_4.xlsx, sheet 2
View BVdb publication page



Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.

Bmc Cancer
Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC
Publication Date: 2021-05-29

Variant appearance in text: rs2018650
PubMed Link: 34051734
Variant Present in the following documents:
  • 12885_2021_8370_MOESM15_ESM.xlsx, sheet 1
View BVdb publication page



Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology
Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA
Publication Date: 2021

Variant appearance in text: rs2018650
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Pathological priming causes developmental gene network heterochronicity in autistic subject-derived neurons.

Nature Neuroscience
Schafer, Simon T ST; Paquola, Apua C M ACM; Stern, Shani S; Gosselin, David D; Ku, Manching M; Pena, Monique M; Kuret, Thomas J M TJM; Liyanage, Marvin M; Mansour, Abed AlFatah AA; Jaeger, Baptiste N BN; Marchetto, Maria C MC; Glass, Christopher K CK; Mertens, Jerome J; Gage, Fred H FH
Publication Date: 2019-02

Variant appearance in text: rs2018650
PubMed Link: 30617258
Variant Present in the following documents:
  • NIHMS1512664-supplement-Sup_Table_5.xlsx, sheet 1
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: rs2018650
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
View BVdb publication page



Allele-specific expression in a family quartet with autism reveals mono-to-biallelic switch and novel transcriptional processes of autism susceptibility genes.

Scientific Reports
Lin, Chun-Yen CY; Chang, Kai-Wei KW; Lin, Chia-Yi CY; Wu, Jia-Ying JY; Coon, Hilary H; Huang, Pei-Hsin PH; Ho, Hong-Nerng HN; Akbarian, Schahram S; Gau, Susan Shur-Fen SS; Huang, Hsien-Sung HS
Publication Date: 2018-03-09

Variant appearance in text: rs2018650
PubMed Link: 29523860
Variant Present in the following documents:
  • 41598_2018_22753_MOESM11_ESM.xlsx, sheet 1
View BVdb publication page



OTX1 regulates cell cycle progression of neural progenitors in the developing cerebral cortex.

The Journal Of Biological Chemistry
Huang, Baoshan B; Li, Xue X; Tu, Xiaomeng X; Zhao, Wei W; Zhu, Dan D; Feng, Yue Y; Si, Xiang X; Chen, Jie-Guang JG
Publication Date: 2018-02-09

Variant appearance in text: rs2018650
PubMed Link: 29273633
Variant Present in the following documents:
  • Main text
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: rs2018650
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



Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases
Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ
Publication Date: 2017-05-23

Variant appearance in text: rs2018650
PubMed Link: 28535796
Variant Present in the following documents:
  • 13023_2017_647_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page



Pathway Network Analyses for Autism Reveal Multisystem Involvement, Major Overlaps with Other Diseases and Convergence upon MAPK and Calcium Signaling.

Plos One
Wen, Ya Y; Alshikho, Mohamad J MJ; Herbert, Martha R MR
Publication Date: 2016

Variant appearance in text: rs2018650
PubMed Link: 27055244
Variant Present in the following documents:
  • pone.0153329.s001.xls, sheet 1
View BVdb publication page



Mining the 3'UTR of autism-implicated genes for SNPs perturbing microRNA regulation.

Genomics, Proteomics & Bioinformatics
Vaishnavi, Varadharajan V; Manikandan, Mayakannan M; Munirajan, Arasambattu Kannan AK
Publication Date: 2014-04

Variant appearance in text: rs2018650
PubMed Link: 24747189
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



2p15-p16.1 microdeletion syndrome: molecular characterization and association of the OTX1 and XPO1 genes with autism spectrum disorders.

European Journal Of Human Genetics : Ejhg
Liu, Xudong X; Malenfant, Patrick P; Reesor, Chelsea C; Lee, Alana A; Hudson, Melissa L ML; Harvard, Chansonette C; Qiao, Ying Y; Persico, Antonio M AM; Cohen, Ira L IL; Chudley, Albert E AE; Forster-Gibson, Cynthia C; Rajcan-Separovic, Evica E; Lewis, M E Suzanne ME; Holden, Jeanette J A JJ
Publication Date: 2011-12

Variant appearance in text: rs2018650
PubMed Link: 21750575
Variant Present in the following documents:
  • Main text
View BVdb publication page



Evidence for genes on chromosome 2 contributing to alcohol dependence with conduct disorder and suicide attempts.

American Journal Of Medical Genetics. Part B, Neuropsychiatric Genetics : The Official Publication Of The International Society Of Psychiatric Genetics
Dick, Danielle M DM; Meyers, Jacquelyn J; Aliev, Fazil F; Nurnberger, John J; Kramer, John J; Kuperman, Sam S; Porjesz, Bernice B; Tischfield, Jay J; Edenberg, Howard J HJ; Foroud, Tatiana T; Schuckit, Marc M; Goate, Alison A; Hesselbrock, Victor V; Bierut, Laura L
Publication Date: 2010-09

Variant appearance in text: rs2018650
PubMed Link: 20468071
Variant Present in the following documents:
  • Main text
View BVdb publication page