ERCC6 Chromosome 10

ERCC excision repair 6, chromatin remodeling factor

413 variants 413 Health Risk

Upload your DNA to see your personal genotypes for variants in ERCC6.

What This Gene Does

This gene encodes a DNA-binding protein that is important in transcription-coupled excision repair. The encoded protein has ATP-stimulated ATPase activity, interacts with several transcription and excision repair proteins, and may promote complex formation at DNA repair sites. Mutations in this gene are associated with Cockayne syndrome type B and cerebrooculofacioskeletal syndrome 1. Alternative splicing occurs between a splice site from exon 5 of this gene to the 3' splice site upstream of the open reading frame (ORF) of the adjacent gene, piggyback-derived-3 (GeneID:267004), which activates the alternative polyadenylation site downstream of the piggyback-derived-3 ORF. The resulting transcripts encode a fusion protein that shares sequence with the product of each individual gene. [provided by RefSeq, Mar 2016]

Gene Info

Gene Group

"SNF2 related family|ERCC excision repair associated|B-WICH chromatin-remodelling complex subunits"

Locus Type

gene with protein product

Location

10q11.23

Ensembl

ENSG00000225830

Associated Conditions (28)

Cockayne syndrome

Cerebrooculofacioskeletal syndrome 1

ERCC6-related disorder

Age related macular degeneration 5

Cockayne syndrome type 2

Inborn genetic diseases

Thymoma

DE SANCTIS-CACCHIONE SYNDROME

Hereditary breast ovarian cancer syndrome

7 conditions

Cone-rod dystrophy

Intellectual disability

6 conditions

Clear cell carcinoma of kidney

Uveal melanoma

Colon adenocarcinoma

Melanoma

Malignant tumor of esophagus

Familial cancer of breast

Ovarian serous cystadenocarcinoma

+8 more conditions

Key Variants

RS1057518910

Conflicting classifications of pathogenicity

Cockayne syndrome, Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome

Health Risk

RS114234514

Conflicting classifications of pathogenicity

Health Risk

RS114403790

Conflicting classifications of pathogenicity

Cerebrooculofacioskeletal syndrome 1, Age related macular degeneration 5, Cockayne syndrome type 2

Health Risk

RS114490473

Conflicting classifications of pathogenicity

Health Risk

RS114832108

Conflicting classifications of pathogenicity

Health Risk

RS115633798

Conflicting classifications of pathogenicity

Inborn genetic diseases, Thymoma, Inborn genetic diseases

Health Risk

RS115643329

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS115875661

Conflicting classifications of pathogenicity

Health Risk

RS115876786

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS116032070

Conflicting classifications of pathogenicity

Health Risk

RS1163269726

Conflicting classifications of pathogenicity

Inborn genetic diseases, Cockayne syndrome type 2, Inborn genetic diseases

Health Risk

RS117555054

Conflicting classifications of pathogenicity

Health Risk

All Variants (413)

RSID	Category	Clinical Significance	Conditions
RS751838040	Health Risk	Pathogenic/Likely pathogenic	Cockayne syndrome type 2, DE SANCTIS-CACCHIONE SYNDROME, 7 conditions
RS754978734	Health Risk	Pathogenic/Likely pathogenic	Cockayne syndrome type 2, 7 conditions, Cockayne syndrome
RS765825423	Health Risk	Pathogenic/Likely pathogenic	Cockayne syndrome type 2, Cerebrooculofacioskeletal syndrome 1, DE SANCTIS-CACCHIONE SYNDROME
RS766629930	Health Risk	Pathogenic/Likely pathogenic	7 conditions, 7 conditions
RS766980240	Health Risk	Pathogenic/Likely pathogenic	Cerebrooculofacioskeletal syndrome 1, DE SANCTIS-CACCHIONE SYNDROME, Cockayne syndrome type 2
RS767247987	Health Risk	Pathogenic/Likely pathogenic	Cockayne syndrome type 2, Cerebrooculofacioskeletal syndrome 1, DE SANCTIS-CACCHIONE SYNDROME
RS774175886	Health Risk	Pathogenic/Likely pathogenic	Cockayne syndrome type 2, Cockayne syndrome type 2
RS774791374	Health Risk	Pathogenic/Likely pathogenic	Cockayne syndrome type 2, Cerebrooculofacioskeletal syndrome 1, DE SANCTIS-CACCHIONE SYNDROME
RS786205168	Health Risk	Pathogenic/Likely pathogenic	Cockayne syndrome type 2, 7 conditions, Cockayne syndrome type 2
RS886047037	Health Risk	Pathogenic/Likely pathogenic	—
RS901360414	Health Risk	Pathogenic/Likely pathogenic	—
RS906755254	Health Risk	Pathogenic/Likely pathogenic	Cockayne syndrome type 2, Cerebrooculofacioskeletal syndrome 1, DE SANCTIS-CACCHIONE SYNDROME
RS999171980	Health Risk	Pathogenic/Likely pathogenic	Inborn genetic diseases, 7 conditions, Inborn genetic diseases

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