Genomic Instability Gene Set

Dataset HuGE Navigator Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description abnormalities of DNA metabolism, DNA repair, cell-cycle governance, or control of apoptosis that increase the probability that whole chromosomes or pieces of chromosomes are gained or lost during cell division, resulting in an imbalance in the number of chromosomes per cell (aneuploidy) and an enhanced rate of loss of heterozygosity (Mammalian Phenotype Ontology, MP_0008866)
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Genes

103 genes associated with the Genomic Instability phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Symbol Name
ABCG2 ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)
ACVR2A activin A receptor, type IIA
ADH1B alcohol dehydrogenase 1B (class I), beta polypeptide
ALDH2 aldehyde dehydrogenase 2 family (mitochondrial)
ALKBH3 alkB, alkylation repair homolog 3 (E. coli)
ATN1 atrophin 1
ATXN1 ataxin 1
ATXN2 ataxin 2
ATXN3 ataxin 3
ATXN7 ataxin 7
ATXN8OS ATXN8 opposite strand (non-protein coding)
AURKA aurora kinase A
BAK1 BCL2-antagonist/killer 1
BAX BCL2-associated X protein
BHMT betaine--homocysteine S-methyltransferase
BRCA1 breast cancer 1, early onset
BRCA2 breast cancer 2, early onset
BUB1 BUB1 mitotic checkpoint serine/threonine kinase
BUB3 BUB3 mitotic checkpoint protein
C9ORF72 chromosome 9 open reading frame 72
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CCND1 cyclin D1
CDKN2C cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)
COMT catechol-O-methyltransferase
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CXCL8 chemokine (C-X-C motif) ligand 8
CYP17A1 cytochrome P450, family 17, subfamily A, polypeptide 1
CYP1A1 cytochrome P450, family 1, subfamily A, polypeptide 1
CYP1A2 cytochrome P450, family 1, subfamily A, polypeptide 2
CYP1B1 cytochrome P450, family 1, subfamily B, polypeptide 1
CYP2A6 cytochrome P450, family 2, subfamily A, polypeptide 6
CYP2C18 cytochrome P450, family 2, subfamily C, polypeptide 18
CYP2C19 cytochrome P450, family 2, subfamily C, polypeptide 19
CYP2E1 cytochrome P450, family 2, subfamily E, polypeptide 1
DACT3 dishevelled-binding antagonist of beta-catenin 3
DMPK dystrophia myotonica-protein kinase
EPHX1 epoxide hydrolase 1, microsomal (xenobiotic)
ESR1 estrogen receptor 1
FAF1 Fas (TNFRSF6) associated factor 1
FGA fibrinogen alpha chain
FMR1 fragile X mental retardation 1
FUS FUS RNA binding protein
FZD6 frizzled class receptor 6
GSTA2 glutathione S-transferase alpha 2
GSTA4 glutathione S-transferase alpha 4
GSTM1 glutathione S-transferase mu 1
GSTM3 glutathione S-transferase mu 3 (brain)
GSTP1 glutathione S-transferase pi 1
GSTT1 glutathione S-transferase theta 1
GSTT2 glutathione S-transferase theta 2 (gene/pseudogene)
HDAC4 histone deacetylase 4
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
HTT huntingtin
HUS1 HUS1 checkpoint homolog (S. pombe)
IFNG interferon, gamma
IL10 interleukin 10
IL1B interleukin 1, beta
IL1RN interleukin 1 receptor antagonist
IL4 interleukin 4
IL6 interleukin 6
JAK2 Janus kinase 2
KRAS Kirsten rat sarcoma viral oncogene homolog
LIG4 ligase IV, DNA, ATP-dependent
MAD2L1 MAD2 mitotic arrest deficient-like 1 (yeast)
MEN1 multiple endocrine neoplasia I
MLH1 mutL homolog 1
MRE11A MRE11 meiotic recombination 11 homolog A (S. cerevisiae)
MSH2 mutS homolog 2
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
NAT1 N-acetyltransferase 1 (arylamine N-acetyltransferase)
NAT2 N-acetyltransferase 2 (arylamine N-acetyltransferase)
NBN nibrin
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PPP2R2B protein phosphatase 2, regulatory subunit B, beta
PRDM9 PR domain containing 9
RAD50 RAD50 homolog (S. cerevisiae)
RECQL5 RecQ protein-like 5
REV3L REV3-like, polymerase (DNA directed), zeta, catalytic subunit
SHMT1 serine hydroxymethyltransferase 1 (soluble)
SOD1 superoxide dismutase 1, soluble
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
SYK spleen tyrosine kinase
TARDBP TAR DNA binding protein
TBP TATA box binding protein
TEP1 telomerase-associated protein 1
TERC telomerase RNA component
TERF2 telomeric repeat binding factor 2
TERT telomerase reverse transcriptase
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TNF tumor necrosis factor
TNFRSF1B tumor necrosis factor receptor superfamily, member 1B
TNKS tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase
TNKS2 tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2
TP53 tumor protein p53
TTR transthyretin
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
WDR3 WD repeat domain 3
XRCC1 X-ray repair complementing defective repair in Chinese hamster cells 1
XRCC3 X-ray repair complementing defective repair in Chinese hamster cells 3
XRCC4 X-ray repair complementing defective repair in Chinese hamster cells 4
XRCC5 X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)
XRCC6 X-ray repair complementing defective repair in Chinese hamster cells 6