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
RS2495943969	Health Risk	Pathogenic	—
RS2495946797	Health Risk	Pathogenic	—
RS2495946873	Health Risk	Pathogenic	—
RS2495949965	Health Risk	Pathogenic	—
RS2495970278	Health Risk	Pathogenic	—
RS2495971037	Health Risk	Pathogenic	—
RS2495971762	Health Risk	Pathogenic	—
RS2495971965	Health Risk	Pathogenic	—
RS2495971978	Health Risk	Pathogenic	—
RS2495972164	Health Risk	Pathogenic	—
RS2495972526	Health Risk	Pathogenic	—
RS2495973807	Health Risk	Pathogenic	—
RS2495973867	Health Risk	Pathogenic	—
RS2495974544	Health Risk	Pathogenic	—
RS2495974734	Health Risk	Pathogenic	—
RS2495978149	Health Risk	Pathogenic	—
RS2495980482	Health Risk	Pathogenic	—
RS2495980701	Health Risk	Pathogenic	—
RS2495982991	Health Risk	Pathogenic	—
RS2495984482	Health Risk	Pathogenic	—
RS2495990477	Health Risk	Pathogenic	—
RS2495990583	Health Risk	Pathogenic	Cockayne syndrome type 2, Cockayne syndrome type 2
RS2495995968	Health Risk	Pathogenic	—
RS2495996016	Health Risk	Pathogenic	Cerebrooculofacioskeletal syndrome 1, Cerebrooculofacioskeletal syndrome 1
RS2496008937	Health Risk	Pathogenic	—
RS2496009092	Health Risk	Pathogenic	—
RS2496009185	Health Risk	Pathogenic	—
RS2496050378	Health Risk	Pathogenic	—
RS2496050980	Health Risk	Pathogenic	—
RS2496137574	Health Risk	Pathogenic	—
RS2496138391	Health Risk	Pathogenic	—
RS2496138465	Health Risk	Pathogenic	—
RS2496139507	Health Risk	Pathogenic	—
RS2496139686	Health Risk	Pathogenic	DE SANCTIS-CACCHIONE SYNDROME, DE SANCTIS-CACCHIONE SYNDROME
RS2496140467	Health Risk	Pathogenic	—
RS2496141604	Health Risk	Pathogenic	—
RS2496142607	Health Risk	Pathogenic	—
RS2496173488	Health Risk	Pathogenic	—
RS2496173866	Health Risk	Pathogenic	—
RS2496174268	Health Risk	Pathogenic	—
RS2496175259	Health Risk	Pathogenic	—
RS2496175399	Health Risk	Pathogenic	Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2, DE SANCTIS-CACCHIONE SYNDROME
RS2496175498	Health Risk	Pathogenic	—
RS368728467	Health Risk	Pathogenic	Cockayne syndrome type 2, Cerebrooculofacioskeletal syndrome 1, DE SANCTIS-CACCHIONE SYNDROME
RS373227647	Health Risk	Pathogenic	Cockayne syndrome type 2, 7 conditions, DE SANCTIS-CACCHIONE SYNDROME
RS387906262	Health Risk	Pathogenic	Cockayne syndrome type 2, Cockayne syndrome type 2
RS527236039	Health Risk	Pathogenic	Cockayne syndrome type 2, Cockayne syndrome type 2
RS529174213	Health Risk	Pathogenic	—
RS577021605	Health Risk	Pathogenic	Cerebrooculofacioskeletal syndrome 1, DE SANCTIS-CACCHIONE SYNDROME, Cockayne syndrome type 2
RS746616255	Health Risk	Pathogenic	—

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