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
RS762734699	Health Risk	Conflicting classifications of pathogenicity	—
RS764159237	Health Risk	Conflicting classifications of pathogenicity	Cerebrooculofacioskeletal syndrome 1, Age related macular degeneration 5, Cockayne syndrome type 2
RS764319566	Health Risk	Conflicting classifications of pathogenicity	—
RS766256094	Health Risk	Conflicting classifications of pathogenicity	Age related macular degeneration 5, Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2
RS767709344	Health Risk	Conflicting classifications of pathogenicity	Cerebrooculofacioskeletal syndrome 1, Age related macular degeneration 5, Cockayne syndrome type 2
RS769421755	Health Risk	Conflicting classifications of pathogenicity	Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2, Age related macular degeneration 5
RS771604820	Health Risk	Conflicting classifications of pathogenicity	Age related macular degeneration 5, Cockayne syndrome type 2, Cerebrooculofacioskeletal syndrome 1
RS772880581	Health Risk	Conflicting classifications of pathogenicity	Cockayne syndrome type 2, Cerebrooculofacioskeletal syndrome 1, Age related macular degeneration 5
RS774930802	Health Risk	Conflicting classifications of pathogenicity	Cockayne syndrome type 2, Cerebrooculofacioskeletal syndrome 1, Age related macular degeneration 5
RS775274710	Health Risk	Conflicting classifications of pathogenicity	Cockayne syndrome type 2, Age related macular degeneration 5, Cerebrooculofacioskeletal syndrome 1
RS775549101	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS777251839	Health Risk	Conflicting classifications of pathogenicity	Cockayne syndrome type 2, Age related macular degeneration 5, Cerebrooculofacioskeletal syndrome 1
RS778562892	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS778873369	Health Risk	Conflicting classifications of pathogenicity	—
RS80133923	Health Risk	Conflicting classifications of pathogenicity	Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2, Age related macular degeneration 5
RS886047034	Health Risk	Conflicting classifications of pathogenicity	Cerebrooculofacioskeletal syndrome 1, Age related macular degeneration 5, Cockayne syndrome type 2
RS1010201937	Health Risk	Likely pathogenic	Cockayne syndrome type 2, Cockayne syndrome type 2
RS1033353171	Health Risk	Likely pathogenic	—
RS1064795562	Health Risk	Likely pathogenic	—
RS1131691890	Health Risk	Likely pathogenic	—
RS1157288312	Health Risk	Likely pathogenic	—
RS1198472093	Health Risk	Likely pathogenic	Cerebrooculofacioskeletal syndrome 1, DE SANCTIS-CACCHIONE SYNDROME, Cockayne syndrome type 2
RS1226553506	Health Risk	Likely pathogenic	Cockayne syndrome type 2, Cockayne syndrome type 2
RS1228919836	Health Risk	Likely pathogenic	Cerebrooculofacioskeletal syndrome 1, DE SANCTIS-CACCHIONE SYNDROME, Cockayne syndrome type 2
RS1283213117	Health Risk	Likely pathogenic	Cockayne syndrome type 2, Cockayne syndrome type 2
RS1286402535	Health Risk	Likely pathogenic	Cockayne syndrome type 2, Cockayne syndrome type 2
RS1364973121	Health Risk	Likely pathogenic	—
RS143502251	Health Risk	Likely pathogenic	Cockayne syndrome type 2, Cockayne syndrome type 2
RS1439882146	Health Risk	Likely pathogenic	—
RS1441655600	Health Risk	Likely pathogenic	Cerebrooculofacioskeletal syndrome 1, DE SANCTIS-CACCHIONE SYNDROME, Cockayne syndrome type 2
RS1554787554	Health Risk	Likely pathogenic	Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2, DE SANCTIS-CACCHIONE SYNDROME
RS1554789393	Health Risk	Likely pathogenic	Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2, DE SANCTIS-CACCHIONE SYNDROME
RS1554793174	Health Risk	Likely pathogenic	Cerebrooculofacioskeletal syndrome 1, DE SANCTIS-CACCHIONE SYNDROME, Cockayne syndrome type 2
RS1554794073	Health Risk	Likely pathogenic	Cerebrooculofacioskeletal syndrome 1, DE SANCTIS-CACCHIONE SYNDROME, Cockayne syndrome type 2
RS1554794620	Health Risk	Likely pathogenic	Cerebrooculofacioskeletal syndrome 1, DE SANCTIS-CACCHIONE SYNDROME, Cockayne syndrome type 2
RS1554794640	Health Risk	Likely pathogenic	Cerebrooculofacioskeletal syndrome 1, DE SANCTIS-CACCHIONE SYNDROME, Cockayne syndrome type 2
RS1554873950	Health Risk	Likely pathogenic	Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2, DE SANCTIS-CACCHIONE SYNDROME
RS1554873973	Health Risk	Likely pathogenic	Cerebrooculofacioskeletal syndrome 1, DE SANCTIS-CACCHIONE SYNDROME, Cockayne syndrome type 2
RS1554875114	Health Risk	Likely pathogenic	Cerebrooculofacioskeletal syndrome 1, DE SANCTIS-CACCHIONE SYNDROME, Cockayne syndrome type 2
RS1554875155	Health Risk	Likely pathogenic	Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2, DE SANCTIS-CACCHIONE SYNDROME
RS1554875522	Health Risk	Likely pathogenic	Cerebrooculofacioskeletal syndrome 1, DE SANCTIS-CACCHIONE SYNDROME, Cockayne syndrome type 2
RS1554875536	Health Risk	Likely pathogenic	Cockayne syndrome type 2, Cockayne syndrome, Cockayne syndrome type 2
RS1837271887	Health Risk	Likely pathogenic	—
RS1837448977	Health Risk	Likely pathogenic	Cockayne syndrome type 2, Cockayne syndrome type 2
RS1850531575	Health Risk	Likely pathogenic	Cockayne syndrome type 2, Cockayne syndrome type 2
RS1850747928	Health Risk	Likely pathogenic	Cockayne syndrome type 2, Cockayne syndrome type 2
RS1850750513	Health Risk	Likely pathogenic	Cockayne syndrome type 2, Cockayne syndrome type 2
RS1850753467	Health Risk	Likely pathogenic	Cockayne syndrome type 2, Cockayne syndrome type 2
RS1850754584	Health Risk	Likely pathogenic	Cockayne syndrome type 2, Cockayne syndrome type 2
RS1850757159	Health Risk	Likely pathogenic	Cockayne syndrome type 2, Cockayne syndrome type 2

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