KIAA0040 c.-55C>T

Variant ID: 1-175130204-G-A

NM_014656.2(KIAA0040):c.-55C>T

This variant was identified in 18 publications

View GRCh38 version.




Publications:


Integrated proteogenomic characterization across major histological types of pituitary neuroendocrine tumors.

Cell Research
Zhang, Fan F; Zhang, Qilin Q; Zhu, Jiajun J; Yao, Boyuan B; Ma, Chi C; Qiao, Nidan N; He, Shiman S; Ye, Zhao Z; Wang, Yunzhi Y; Han, Rui R; Feng, Jinwen J; Wang, Yongfei Y; Qin, Zhaoyu Z; Ma, Zengyi Z; Li, Kai K; Zhang, Yichao Y; Tian, Sha S; Chen, Zhengyuan Z; Tan, Subei S; Wu, Yue Y; Ran, Peng P; Wang, Ye Y; Ding, Chen C; Zhao, Yao Y
Publication Date: 2022-12

Variant appearance in text: rs1057239
PubMed Link: 36307579
Variant Present in the following documents:
  • 41422_2022_736_MOESM10_ESM.xlsx, sheet 3
View BVdb publication page



Beneficial effects of mifepristone treatment in breast cancer patients selected by the progesterone receptor isoform ratio: Results from the MIPRA trial.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Elía, Andrés A; Saldain, Leo L; Vanzulli, Silvia I SI; Helguero, Luisa A LA; Lamb, Caroline A CA; Fabris, Victoria V; Pataccini, Gabriela G; Martínez-Vazquez, Paula P; Burruchaga, Javier J; Caillet-Bois, Ines I; Spengler, Eunice E; Acosta Haab, Gabriela G; Liguori, Marcos M; Castets, Alejandra A; Lovisi, Silvia S; Abascal, María F MF; Novaro, Virginia V; Sánchez, Jana J; Muñoz, Javier J; Belizán, Jose M JM; Abba, Martín C MC; Gass, Hugo H; Rojas, Paola P; Lanari, Claudia C
Publication Date: 2022-10-21

Variant appearance in text: KIAA0040: -55C>T; rs1057239
PubMed Link: 36269797
Variant Present in the following documents:
  • ccr-22-2060_supplementary_table_s5_suppts5.xlsx, sheet 1
View BVdb publication page



A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08

Variant appearance in text: rs1057239
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
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: rs1057239
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09

Variant appearance in text: KIAA0040: -55C>T; rs1057239
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM5_ESM.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: KIAA0040: -55C>T; rs1057239
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
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: KIAA0040: -55C>T; rs1057239
PubMed Link: 29221171
Variant Present in the following documents:
  • oncotarget-08-95841-s002.xlsx, sheet 1
View BVdb publication page



Comorbidity of Alcohol Use Disorder and Chronic Pain: Genetic Influences on Brain Reward and Stress Systems.

Alcoholism, Clinical And Experimental Research
Yeung, Ellen W EW; Craggs, Jason G JG; Gizer, Ian R IR
Publication Date: 2017-11

Variant appearance in text: rs1057239
PubMed Link: 29048744
Variant Present in the following documents:
  • Main text
View BVdb publication page



The genetic epidemiology of substance use disorder: A review.

Drug And Alcohol Dependence
Prom-Wormley, Elizabeth C EC; Ebejer, Jane J; Dick, Danielle M DM; Bowers, M Scott MS
Publication Date: 2017-11-01

Variant appearance in text: rs1057239
PubMed Link: 28938182
Variant Present in the following documents:
  • Main text
View BVdb publication page



Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs1057239
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



A New Genomewide Association Meta-Analysis of Alcohol Dependence.

Alcoholism, Clinical And Experimental Research
Zuo, Lingjun L; Tan, Yunlong Y; Zhang, Xiangyang X; Wang, Xiaoping X; Krystal, John J; Tabakoff, Boris B; Zhong, Chunlong C; Luo, Xingguang X
Publication Date: 2015-08

Variant appearance in text: rs1057239
PubMed Link: 26173551
Variant Present in the following documents:
  • Main text
View BVdb publication page



Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget
Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S
Publication Date: 2015-06-20

Variant appearance in text: rs1057239
PubMed Link: 25944692
Variant Present in the following documents:
  • oncotarget-06-15375-s005.xlsx, sheet 2
View BVdb publication page



Whole exome sequencing of a single osteosarcoma case--integrative analysis with whole transcriptome RNA-seq data.

Human Genomics
Reimann, Ene E; Kõks, Sulev S; Ho, Xuan Dung XD; Maasalu, Katre K; Märtson, Aare A
Publication Date: 2014-12-11

Variant appearance in text: rs1057239
PubMed Link: 25496518
Variant Present in the following documents:
  • 40246_2014_20_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Genome-wide association discoveries of alcohol dependence.

The American Journal On Addictions
Zuo, Lingjun L; Lu, Lingeng L; Tan, Yunlong Y; Pan, Xinghua X; Cai, Yiqiang Y; Wang, Xiaoping X; Hong, Jiang J; Zhong, Chunlong C; Wang, Fei F; Zhang, Xiang-Yang XY; Vanderlinden, Lauren A LA; Tabakoff, Boris B; Luo, Xingguang X
Publication Date: 2014

Variant appearance in text: rs1057239
PubMed Link: 25278008
Variant Present in the following documents:
  • Main text
View BVdb publication page



Family-based association analysis of alcohol dependence implicates KIAA0040 on Chromosome 1q in multiplex alcohol dependence families.

Open Journal Of Genetics
Hill, Shirley Y SY; Jones, Bobby L BL; Zezza, Nicholas N; Stiffler, Scott S
Publication Date: 2013-12

Variant appearance in text: rs1057239
PubMed Link: 24829844
Variant Present in the following documents:
  • Main text
  • nihms569885.pdf
View BVdb publication page



Whole genome analyses of a well-differentiated liposarcoma reveals novel SYT1 and DDR2 rearrangements.

Plos One
Egan, Jan B JB; Barrett, Michael T MT; Champion, Mia D MD; Middha, Sumit S; Lenkiewicz, Elizabeth E; Evers, Lisa L; Francis, Princy P; Schmidt, Jessica J; Shi, Chang-Xin CX; Van Wier, Scott S; Badar, Sandra S; Ahmann, Gregory G; Kortuem, K Martin KM; Boczek, Nicole J NJ; Fonseca, Rafael R; Craig, David W DW; Carpten, John D JD; Borad, Mitesh J MJ; Stewart, A Keith AK
Publication Date: 2014

Variant appearance in text: rs1057239
PubMed Link: 24505276
Variant Present in the following documents:
  • pone.0087113.s004.xls, sheet 1
View BVdb publication page



Large scale association analysis for drug addiction: results from SNP to gene.

Thescientificworldjournal
Guo, Xiaobo X; Liu, Zhifa Z; Wang, Xueqin X; Zhang, Heping H
Publication Date: 2012

Variant appearance in text: rs1057239
PubMed Link: 23365539
Variant Present in the following documents:
  • Main text
  • TSWJ2012-939584.pdf
View BVdb publication page



Genome-wide association study of alcohol dependence implicates KIAA0040 on chromosome 1q.

Neuropsychopharmacology : Official Publication Of The American College Of Neuropsychopharmacology
Zuo, Lingjun L; Gelernter, Joel J; Zhang, Clarence K CK; Zhao, Hongyu H; Lu, Lingeng L; Kranzler, Henry R HR; Malison, Robert T RT; Li, Chiang-Shan R CS; Wang, Fei F; Zhang, Xiang-Yang XY; Deng, Hong-Wen HW; Krystal, John H JH; Zhang, Fengyu F; Luo, Xingguang X
Publication Date: 2012-01

Variant appearance in text: rs1057239
PubMed Link: 21956439
Variant Present in the following documents:
  • Main text
View BVdb publication page