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 |
|---|---|---|---|---|---|---|---|---|---|
| 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, |
| 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 | 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 | - | - | - |
