Description
Hermansky-Pudlak syndrome 5 [Source:HGNC Symbol;Acc:17022]
Gene Synonyms
AIBP63, KIAA1017
Location
Chromosome 11: 18,300,223-18,343,745 reverse strand.
GRCh37:CM000673.1
About this gene
This gene has 11 transcripts (splice variants), 1 paralogue and is associated with 2 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000396253.3 | HPS5-002 | 4717 | 1015aa | ENSP00000379552.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS7837 | F5GWM5 Q9UPZ3 | NM_007216.3 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000349215.3 | HPS5-001 | 4491 | 1129aa | ENSP00000265967.5 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS7836 | F5GWM5 Q9UPZ3 | NM_181507.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000438420.2 | HPS5-005 | 4147 | 1015aa | ENSP00000399590.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS7837 | F5GWM5 Q9UPZ3 | NM_181508.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000531848.1 | HPS5-003 | 2160 | 400aa | ENSP00000431758.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | G3V159 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000537258.1 | HPS5-007 | 1275 | 263aa | ENSP00000437437.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | F5H6Q8 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000544218.1 | HPS5-009 | 759 | 160aa | ENSP00000441781.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | F5GWM5 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000352460.3 | HPS5-006 | 1642 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000589545.1 | HPS5-012 | 485 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000543728.1 | HPS5-010 | 320 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000545561.1 | HPS5-008 | 1121 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000399287.3 | HPS5-004 | 711 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |
