Description
diablo, IAP-binding mitochondrial protein [Source:HGNC Symbol;Acc:21528]
Gene Synonyms
DFNA64, DIABLO-S, FLJ10537, FLJ25049, SMAC
Location
Chromosome 12: 122,692,210-122,712,081 reverse strand.
GRCh37:CM000674.1
About this gene
This gene has 15 transcripts (splice variants) and is associated with 2 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000443649.3 | DIABLO-003 | 2250 | 239aa | ENSP00000398495.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS9228 | F5GX50 F5GYH3 F5H0Q4 F5H796 Q9NR28 | NM_019887.5 | 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, |
| ENST00000464942.2 | DIABLO-005 | 2569 | 186aa | ENSP00000442360.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | F5GX50 F5GYH3 F5H0Q4 F5H796 Q502X2 Q9NR28 | NM_001278304.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000413918.1 | DIABLO-201 | 2111 | 195aa | ENSP00000411638.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS9229 | Q9NR28 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000353548.6 | DIABLO-002 | 1338 | 195aa | ENSP00000320343.6 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS9229 | Q9NR28 | NM_001278342.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000267169.6 | DIABLO-012 | 1316 | 186aa | ENSP00000267169.6 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | F5GX50 F5GYH3 F5H0Q4 F5H796 Q502X2 Q9NR28 | NM_138930.3 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000474004.2 | DIABLO-009 | 804 | 156aa | ENSP00000442669.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | F5GX50 F5GYH3 F5H0Q4 F5H796 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000541656.1 | DIABLO-014 | 732 | 125aa | ENSP00000440653.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | F5GYH3 F5H0Q4 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000540535.1 | DIABLO-015 | 703 | 128aa | ENSP00000441139.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | F5GX50 F5GYH3 F5H0Q4 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000439489.1 | DIABLO-011 | 634 | 120aa | ENSP00000390818.1 | 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, | |
| ENST00000446652.1 | DIABLO-008 | 573 | 191aa | ENSP00000390103.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | F5H0Q4 | - | 5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.CDS 5' and 3' incomplete, | |
| ENST00000485724.1 | DIABLO-007 | 560 | 77aa | ENSP00000438710.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | F5H0Q4 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000541273.1 | DIABLO-013 | 555 | 133aa | ENSP00000440971.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | F5GXT8 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000342392.3 | DIABLO-004 | 1336 | 46aa | ENSP00000339963.3 | Nonsense mediated decay | F8W6K8 | - | - | |
| ENST00000475784.1 | DIABLO-006 | 531 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000489781.2 | DIABLO-010 | 2146 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |
