Description
coiled-coil-helix-coiled-coil-helix domain containing 7 [Source:HGNC Symbol;Acc:28314]
Gene Synonyms
COX23, MGC2217
Location
Chromosome 8: 57,124,245-57,131,357 forward strand.
GRCh37:CM000670.1
About this gene
This gene has 18 transcripts (splice variants) and is associated with 30 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000303759.3 | CHCHD7-201 | 1684 | 110aa | ENSP00000306425.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS34895 | E5RJ08 J3KPV1 Q9BUK0 | NM_024300.3 | 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, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000523975.1 | CHCHD7-001 | 1805 | 97aa | ENSP00000428917.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS6166 | E5RJ08 Q9BUK0 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000518801.1 | CHCHD7-005 | 1670 | 68aa | ENSP00000428274.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS55232 | Q9BUK0 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000396723.5 | CHCHD7-004 | 1550 | 94aa | ENSP00000379949.5 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | E5RJ08 J3KPV1 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000355315.3 | CHCHD7-002 | 1535 | 85aa | ENSP00000347469.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS34896 | E5RJ08 Q9BUK0 | NM_001011671.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000521524.1 | CHCHD7-012 | 703 | 68aa | ENSP00000430458.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS55232 | Q9BUK0 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000517933.1 | CHCHD7-009 | 580 | 60aa | ENSP00000430350.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | E5RFN2 E5RJ08 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000521831.1 | CHCHD7-006 | 573 | 56aa | ENSP00000429635.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS55233 | Q9BUK0 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000523061.1 | CHCHD7-011 | 557 | 46aa | ENSP00000430882.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | E5RHM5 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000517636.1 | CHCHD7-013 | 536 | 44aa | ENSP00000429230.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | E5RJ08 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000519367.1 | CHCHD7-014 | 442 | 56aa | ENSP00000428095.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS55233 | Q9BUK0 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000523532.1 | CHCHD7-017 | 567 | 65aa | ENSP00000430498.1 | Nonsense mediated decay | E5RJ15 | - | - | |
| ENST00000523667.1 | CHCHD7-015 | 559 | 65aa | ENSP00000429217.1 | Nonsense mediated decay | E5RJ15 | - | - | |
| ENST00000521982.1 | CHCHD7-018 | 552 | 61aa | ENSP00000430714.1 | Nonsense mediated decay | E5RII1 E5RJ08 | - | - | |
| ENST00000522166.1 | CHCHD7-003 | 3157 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000522366.1 | CHCHD7-008 | 1030 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000518944.1 | CHCHD7-010 | 582 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000518169.1 | CHCHD7-007 | 442 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |
