Description
excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence) [Source:HGNC Symbol;Acc:3433]
Gene Synonyms
COFS4, RAD10, UV20
Location
Chromosome 19: 45,910,591-45,982,086 reverse strand.
GRCh37:CM000681.1
About this gene
This gene has 17 transcripts (splice variants) and is associated with 5 phenotypes.
Transcripts
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000013807.5 | ERCC1-003 | 1278 | 323aa | ENSP00000013807.4 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS12663 | K7EK97 K7EP14 K7ER89 P07992 Q8WWH8 | NM_202001.2 | A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
ENST00000300853.3 | ERCC1-001 | 3828 | 297aa | ENSP00000300853.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS12662 | K7EK97 K7EP14 K7ER89 P07992 Q8WWH8 | NM_001983.3 | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
ENST00000423698.2 | ERCC1-004 | 3119 | 225aa | ENSP00000394875.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | K7ES46 P07992 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
ENST00000589165.1 | ERCC1-006 | 1453 | 297aa | ENSP00000468035.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS12662 | K7EK97 K7EP14 K7ER89 P07992 Q8WWH8 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
ENST00000340192.7 | ERCC1-002 | 949 | 273aa | ENSP00000345203.6 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS54279 | K7EK97 K7ER89 P07992 Q8WWH8 | NM_001166049.1 | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
ENST00000592083.1 | ERCC1-011 | 938 | 258aa | ENSP00000467183.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | K7EK97 K7EP14 K7ER89 Q8WWH8 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
ENST00000591636.1 | ERCC1-013 | 836 | 213aa | ENSP00000468119.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | K7EK97 K7ER60 Q8WWH8 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
ENST00000589381.1 | ERCC1-010 | 738 | 209aa | ENSP00000468548.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | K7ES46 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
ENST00000592023.1 | ERCC1-009 | 738 | 234aa | ENSP00000468158.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | K7EK97 K7ER89 Q8WWH8 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
ENST00000589214.1 | ERCC1-005 | 674 | 141aa | ENSP00000465524.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | K7EK97 Q8WWH8 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
ENST00000592444.1 | ERCC1-015 | 449 | 112aa | ENSP00000465354.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
ENST00000590701.1 | ERCC1-014 | 345 | 91aa | ENSP00000466644.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
ENST00000587888.1 | ERCC1-012 | 556 | 45aa | ENSP00000465225.1 | Nonsense mediated decay | K7EJL2 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
ENST00000588738.1 | ERCC1-016 | 586 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
ENST00000592410.1 | ERCC1-017 | 508 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
ENST00000588300.1 | ERCC1-007 | 1055 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
ENST00000592905.1 | ERCC1-008 | 882 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |