PhenoModifier-Gene Detail

Gene "ERCC6"

Found 1 record

Gene information

Gene symbol:

ERCC6

See related:

Ensembl: ENSG00000225830, Gene ID: 2074

Additive variants :

Detected

Genetic interaction partners

Confidence	Stringent (ε>0.16 or ε<-0.12)	Intermediate (-0.16≤ε≤-0.08 or 0.08≤ε≤0.16)	Lenient (\|ε\|<0.08)
Positive interactions	XPA XPC RPL19 CNIH3 RNF10 GCN1 USP17L30 RPSA CRLS1 CHPT1 REV3L UBE2V2 RPS16 ALG12 RPL14 ELOF1 CSNK2B SLC25A1 TST ALPL CLK2 DTD1 PRKCSH YTHDF2 GLUD2 DNAJA3 RHEB VAC14 TRMT1L LENG8 PPP6R3 BIN3 ATAD2 RNASEH2A HAT1 OTUD6A TTC37 NGLY1 UBXN7 CHMP5 show allhide
Negative interactions	THNSL1 PHB2 SMARCB1 ELP3 SLC25A21 ACAA1 TCEA3 TBK1 PKLR RPL4 MON1B LDHD TCP11L2 SLC25A21 NRAS KIAA1109 NAPEPLD DDX21 PEF1 DPH7 ASF1A ATM PGM2L1 ADA RRP8 SUB1 ARHGEF2 USP41 PHGDH SFN MAEA ABHD2 SLC13A4 ADI1 TRMT11 RIT1 RPL17-C18orf32 FAAH ZCCHC7 SLC3A1 ZDHHC4 OLA1 SLC2A10 CHCHD2 KDM7A RPS6 KDM4A DPP6 FOXJ3 HLTF SLC11A2 SLC26A11 WDR45B PRDX1 DRG2 SUCO SGTB CWF19L1 BECN2 USP14 SRPK2 CPA1 TXNRD1 SFN MORF4L1 GRAMD2A HIST2H4B show allhide

Modifier statisitcs

Record:

Disorder:

Vriant:

Reference:

Effect type:

Expressivity(1)

Modifier effect:

Association between smoking and HNC(1)

Detail：

Variant 1:

ERCC6:c.1821+7C>T

Gene:

ERCC6

Genomic location:

chr10:50701156

dbSNP ID:

rs4253132

Target disease:

Head And Neck Carcinoma(DOID_1542)

Effect type:

Expressivity

Modifier effect:

Association between smoking and HNC

Evidence:

CC+CT vs. TT; OR=0.62; 95% CI: 0.45-0.86

Effect:

rs4253132 on ERCC6 was associated with decreased HNC odds

Reference:

PMID23720401

Title:

Single-nucleotide polymorphisms in nucleotide excision repair genes, cigarette smoking, and the risk of head and neck cancer.

Species studied:

Human

Abstract:

Cigarette smoking is associated with increased head and neck cancer (HNC) risk. Tobacco-related carcinogens are known to cause bulky DNA adducts. Nucleotide excision repair (NER) genes encode enzymes that remove adducts and may be independently associated with HNC, as well as modifiers of the association between smoking and HNC.