Description
excision repair cross-complementing rodent repair deficiency, complementation group 2 [Source:HGNC Symbol;Acc:3434]
Gene Synonyms
COFS2, EM9, MAG, MGC102762, MGC126218, MGC126219, TTD, XPD, XPDC
Location
Chromosome 19: 45,853,095-45,874,176 reverse strand.
GRCh37:CM000681.1
About this gene
This gene has 14 transcripts (splice variants) and is associated with 74 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000391945.4 | ERCC2-001 | 4153 | 760aa | ENSP00000375809.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS33049 | A8MX75 K7EIT8 P18074 | NM_000400.3 | 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, |
| ENST00000391941.2 | ERCC2-005 | 2871 | 706aa | ENSP00000375805.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | A8MX75 K7EIT8 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000391944.3 | ERCC2-203 | 2103 | 682aa | ENSP00000375808.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | E7EVE9 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000485403.2 | ERCC2-006 | 1538 | 405aa | ENSP00000431229.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS46112 | K7EIT8 P18074 | NM_001130867.1 | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000391940.4 | ERCC2-202 | 1300 | 405aa | ENSP00000375804.4 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS46112 | K7EIT8 P18074 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000586131.1 | ERCC2-002 | 1007 | 292aa | ENSP00000464887.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | K7EIT8 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000221481.6 | ERCC2-201 | 745 | 127aa | ENSP00000221481.6 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B4E0F6 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000586856.1 | ERCC2-003 | 690 | 109aa | ENSP00000466998.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | K7ENL1 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000587376.1 | ERCC2-004 | 817 | 202aa | ENSP00000465593.1 | Nonsense mediated decay | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000591309.1 | ERCC2-011 | 557 | 127aa | ENSP00000465207.1 | Nonsense mediated decay | B4E0F6 | - | - | |
| ENST00000588652.1 | ERCC2-008 | 2405 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000391942.2 | ERCC2-007 | 1488 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000586441.1 | ERCC2-010 | 682 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000586737.1 | ERCC2-009 | 481 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |
