The ERCC6 gene homepage

General information
Gene symbol	ERCC6
Gene name	excision repair cross-complementing rodent repair deficiency, complementation group 6
Chromosome	10
Chromosomal band	q11
Imprinted	Unknown
Genomic reference	LRG_465
Transcript reference	NM_000124.2, NM_001277059.1, XM_005269595.1, XM_005269596.1
Associated with diseases	ARMD-5, cancer, lung, COFS-1, CSB, ID, UVSS, De Sanctis-Cacchione syndrome
Citation reference(s)	-
Curators (1)	Johan T. den Dunnen
Total number of public variants reported	283
Unique public DNA variants reported	30
Individuals with public variants	35
Hidden variants	54
Date created	December 09, 2013
Date last updated	September 28, 2016
Version	ERCC6:160928

Graphical displays and utilities
Graphs	Graphs displaying summary information of all variants in the database »
UCSC Genome Browser	Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser	Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer	Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
External URL	List of LSDBs for this gene The reference LOVD for this gene, if available
HGNC	HGNC:3438
Entrez Gene	2074
PubMed articles	ERCC6
OMIM - Gene	609413
OMIM - Diseases	ARMD-5 (macular degeneration, age-related, type 5 (ARMD-5)) cancer, lung (cancer, lung (adenocarcinoma)) COFS-1 (cerebrooculofacioskeletal syndrome, type 1 (COFS-1) CSB (Cockayne syndrome, type B (CSB)) UVSS (UV-sensitive syndrome (UVSS)) De Sanctis-Cacchione syndrome
HGMD	ERCC6
GeneCards	ERCC6
GeneTests	ERCC6

Active transcripts

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Operator	Column type	Example	Matches
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space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
!	Text	!fs	all entries not containing 'fs'
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$	Text	Ser)$	all entries ending with 'Ser)'
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combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
	Date	2020	all entries matching the year 2020
\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
<	Date	<2020	all entries before the year 2020
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>	Date	>2020-06	all entries after June, 2020
>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
	Numeric	23	all entries exactly matching 23
\|	Numeric	23\|24	all entries exactly matching 23 or 24
!	Numeric	!23	all entries not exactly matching 23
<	Numeric	<23	all entries lower than 23
<=	Numeric	<=23	all entries lower than, or equal to, 23
>	Numeric	>23	all entries higher than 23
>=	Numeric	>=23	all entries higher than, or equal to, 23
combination	Numeric	>=20 <30 !23	all entries with values from 20 to 29, but not equal to 23

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Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
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"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

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ID	Chr	Name	NCBI ID	NCBI Protein ID	Variants
00016967	10	Manually created transcript. (expired, new version available)	NM_000124.2	-	220
00031516	10	Manually created transcript (removed from reference sequence)	NM_001277059.1	-	130
00033234	10	transcript variant X1	XM_005269595.1	-	-
00033235	10	transcript variant X2	XM_005269596.1	-	-

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized use, copying, storage, or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2013-2025. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases. We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising from any inaccuracies or omissions. Individuals, organizations, and companies that use this database do so on the understanding that no liability whatsoever, either direct or indirect, shall rest upon the data submitter(s), curator(s), or any of their employees or agents for the effects of any product, process, or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.

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ERCC6 (excision repair cross-complementing rodent r...)