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
RS1439211546	Health Risk	Pathogenic	Cerebrooculofacioskeletal syndrome 1, 7 conditions, ERCC6-related disorder
RS1470966288	Health Risk	Pathogenic	—
RS1472833470	Health Risk	Pathogenic	—
RS1554787509	Health Risk	Pathogenic	Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2, DE SANCTIS-CACCHIONE SYNDROME
RS1554790012	Health Risk	Pathogenic	—
RS1554793270	Health Risk	Pathogenic	Cerebrooculofacioskeletal syndrome 1, DE SANCTIS-CACCHIONE SYNDROME, Cockayne syndrome type 2
RS1554793305	Health Risk	Pathogenic	Cerebrooculofacioskeletal syndrome 1, Cerebrooculofacioskeletal syndrome 1
RS1554794342	Health Risk	Pathogenic	Inborn genetic diseases, Inborn genetic diseases
RS1554794360	Health Risk	Pathogenic	Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2, DE SANCTIS-CACCHIONE SYNDROME
RS1554873833	Health Risk	Pathogenic	—
RS1554874073	Health Risk	Pathogenic	Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2, DE SANCTIS-CACCHIONE SYNDROME
RS1554875154	Health Risk	Pathogenic	Cerebrooculofacioskeletal syndrome 1, DE SANCTIS-CACCHIONE SYNDROME, Cockayne syndrome type 2
RS1554875287	Health Risk	Pathogenic	Cerebrooculofacioskeletal syndrome 1, DE SANCTIS-CACCHIONE SYNDROME, Cockayne syndrome type 2
RS1564725764	Health Risk	Pathogenic	Cockayne syndrome type 2, Cockayne syndrome type 2
RS1564730556	Health Risk	Pathogenic	—
RS1590413260	Health Risk	Pathogenic	Cerebrooculofacioskeletal syndrome 1, Cerebrooculofacioskeletal syndrome 1
RS1590474873	Health Risk	Pathogenic	Cockayne syndrome type 2, Cockayne syndrome type 2
RS1590492448	Health Risk	Pathogenic	—
RS1837248544	Health Risk	Pathogenic	—
RS1837257225	Health Risk	Pathogenic	—
RS1837258723	Health Risk	Pathogenic	—
RS1837504550	Health Risk	Pathogenic	—
RS1837506844	Health Risk	Pathogenic	—
RS1850580975	Health Risk	Pathogenic	—
RS1850762108	Health Risk	Pathogenic	—
RS1851000838	Health Risk	Pathogenic	—
RS1851339301	Health Risk	Pathogenic	—
RS185142838	Health Risk	Pathogenic	Cerebrooculofacioskeletal syndrome 1, Inborn genetic diseases, DE SANCTIS-CACCHIONE SYNDROME
RS202080674	Health Risk	Pathogenic	Cockayne syndrome type 2, Inborn genetic diseases, Cockayne syndrome type 2
RS2132524052	Health Risk	Pathogenic	—
RS2132525337	Health Risk	Pathogenic	—
RS2132536979	Health Risk	Pathogenic	—
RS2132537076	Health Risk	Pathogenic	—
RS2132537171	Health Risk	Pathogenic	—
RS2132537341	Health Risk	Pathogenic	—
RS2132537371	Health Risk	Pathogenic	—
RS2132537738	Health Risk	Pathogenic	—
RS2132537968	Health Risk	Pathogenic	—
RS2132537982	Health Risk	Pathogenic	—
RS2132538134	Health Risk	Pathogenic	—
RS2132540177	Health Risk	Pathogenic	—
RS2132546827	Health Risk	Pathogenic	—
RS2132551765	Health Risk	Pathogenic	—
RS2132552521	Health Risk	Pathogenic	Cockayne syndrome type 2, 7 conditions, Cockayne syndrome type 2
RS2132565021	Health Risk	Pathogenic	—
RS2132565119	Health Risk	Pathogenic	—
RS2132582100	Health Risk	Pathogenic	—
RS2132621608	Health Risk	Pathogenic	Cockayne syndrome type 2, Cockayne syndrome type 2
RS2132635486	Health Risk	Pathogenic	—
RS2132635739	Health Risk	Pathogenic	—

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