Description
collagen, type VII, alpha 1 [Source:HGNC Symbol;Acc:2214]
Gene Synonyms
EBD1, EBDCT, EBR1
Location
Chromosome 3: 48,601,506-48,632,700 reverse strand.
GRCh37:CM000665.1
About this gene
This gene has 11 transcripts (splice variants), 17 paralogues and is associated with 18 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000328333.8 | COL7A1-001 | 9276 | 2944aa | ENSP00000332371.8 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS2773 | Q02388 | NM_000094.3 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000454817.1 | COL7A1-201 | 9073 | 2912aa | ENSP00000412569.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | Q02388 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000422991.1 | COL7A1-003 | 597 | 173aa | ENSP00000391608.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | C9JBL3 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000470076.1 | COL7A1-007 | 651 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000487017.1 | COL7A1-002 | 5807 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000459756.1 | COL7A1-005 | 818 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000466591.1 | COL7A1-009 | 778 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000474432.1 | COL7A1-006 | 728 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000467985.1 | COL7A1-004 | 709 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000465238.1 | COL7A1-008 | 587 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000462475.1 | COL7A1-010 | 305 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |
