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
RS747651923	Health Risk	Pathogenic	—
RS750598605	Health Risk	Pathogenic	—
RS751448793	Health Risk	Pathogenic	Cerebrooculofacioskeletal syndrome 1, DE SANCTIS-CACCHIONE SYNDROME, Cockayne syndrome type 2
RS755974092	Health Risk	Pathogenic	—
RS758341467	Health Risk	Pathogenic	Cerebrooculofacioskeletal syndrome 1, ERCC6-related disorder, Cerebrooculofacioskeletal syndrome 1
RS760027420	Health Risk	Pathogenic	—
RS768589918	Health Risk	Pathogenic	—
RS771781694	Health Risk	Pathogenic	Cerebrooculofacioskeletal syndrome 1, DE SANCTIS-CACCHIONE SYNDROME, Cockayne syndrome type 2
RS772801089	Health Risk	Pathogenic	Cockayne syndrome type 2, Cockayne syndrome type 2
RS773944918	Health Risk	Pathogenic	—
RS777002239	Health Risk	Pathogenic	—
RS777446958	Health Risk	Pathogenic	—
RS779850702	Health Risk	Pathogenic	—
RS780538788	Health Risk	Pathogenic	Cockayne syndrome, Cockayne syndrome type 2, Cockayne syndrome
RS781332656	Health Risk	Pathogenic	—
RS786205166	Health Risk	Pathogenic	Cockayne syndrome type 2, Cockayne syndrome type 2
RS786205167	Health Risk	Pathogenic	Cockayne syndrome type 2, Cockayne syndrome type 2
RS786205169	Health Risk	Pathogenic	Cockayne syndrome type 2, Cockayne syndrome type 2
RS786205170	Health Risk	Pathogenic	Cockayne syndrome type 2, Cerebrooculofacioskeletal syndrome 1, DE SANCTIS-CACCHIONE SYNDROME
RS786205171	Health Risk	Pathogenic	Cockayne syndrome type 2, Cerebrooculofacioskeletal syndrome 1, DE SANCTIS-CACCHIONE SYNDROME
RS786205172	Health Risk	Pathogenic	Cockayne syndrome type 2, Cerebrooculofacioskeletal syndrome 1, DE SANCTIS-CACCHIONE SYNDROME
RS786205174	Health Risk	Pathogenic	Cockayne syndrome type 2, 7 conditions, Cockayne syndrome type 2
RS786205175	Health Risk	Pathogenic	Cockayne syndrome type 2, Cockayne syndrome type 2
RS797045562	Health Risk	Pathogenic	Cockayne syndrome type 2, Cockayne syndrome type 2
RS866374385	Health Risk	Pathogenic	Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure
RS875989810	Health Risk	Pathogenic	Premature ovarian failure 11, Cerebrooculofacioskeletal syndrome 1, DE SANCTIS-CACCHIONE SYNDROME
RS878854403	Health Risk	Pathogenic	Premature ovarian failure 11, Premature ovarian failure 11
RS921680313	Health Risk	Pathogenic	—
RS923535659	Health Risk	Pathogenic	—
RS933980617	Health Risk	Pathogenic	—
RS994372113	Health Risk	Pathogenic	—
RS1213371362	Health Risk	Pathogenic/Likely pathogenic	Cerebrooculofacioskeletal syndrome 1, Cerebrooculofacioskeletal syndrome 1
RS121917904	Health Risk	Pathogenic/Likely pathogenic	Cerebrooculofacioskeletal syndrome 1, ERCC6-related disorder, DE SANCTIS-CACCHIONE SYNDROME
RS1272960343	Health Risk	Pathogenic/Likely pathogenic	Cockayne syndrome, Cockayne syndrome
RS1310452605	Health Risk	Pathogenic/Likely pathogenic	7 conditions, 7 conditions
RS144445150	Health Risk	Pathogenic/Likely pathogenic	Cockayne syndrome type 2, Cockayne syndrome type 2
RS151242354	Health Risk	Pathogenic/Likely pathogenic	Cockayne syndrome type 2, ERCC6-related disorder, DE SANCTIS-CACCHIONE SYNDROME
RS1554794590	Health Risk	Pathogenic/Likely pathogenic	7 conditions, 7 conditions
RS1554794641	Health Risk	Pathogenic/Likely pathogenic	Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2, DE SANCTIS-CACCHIONE SYNDROME
RS1590406503	Health Risk	Pathogenic/Likely pathogenic	Inborn genetic diseases, Cockayne syndrome, ERCC6-related disorder
RS1837393519	Health Risk	Pathogenic/Likely pathogenic	Cockayne syndrome type 2, Cockayne syndrome type 2
RS1850818899	Health Risk	Pathogenic/Likely pathogenic	ERCC6-related disorder, ERCC6-related disorder
RS1851015811	Health Risk	Pathogenic/Likely pathogenic	Cockayne syndrome type 2, Cockayne syndrome type 2
RS2132639937	Health Risk	Pathogenic/Likely pathogenic	Cockayne syndrome, Cockayne syndrome
RS2470129871	Health Risk	Pathogenic/Likely pathogenic	Cockayne syndrome type 2, Cockayne syndrome type 2
RS2496140099	Health Risk	Pathogenic/Likely pathogenic	Cockayne syndrome type 2, Cockayne syndrome type 2
RS371739894	Health Risk	Pathogenic/Likely pathogenic	Cockayne syndrome type 2, DE SANCTIS-CACCHIONE SYNDROME, Cockayne syndrome
RS376526037	Health Risk	Pathogenic/Likely pathogenic	Inborn genetic diseases, DE SANCTIS-CACCHIONE SYNDROME, Cerebrooculofacioskeletal syndrome 1
RS4253196	Health Risk	Pathogenic/Likely pathogenic	Cockayne syndrome type 2, Cerebrooculofacioskeletal syndrome 1, DE SANCTIS-CACCHIONE SYNDROME
RS751623760	Health Risk	Pathogenic/Likely pathogenic	7 conditions, 7 conditions

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