Description
Hermansky-Pudlak syndrome 1 [Source:HGNC Symbol;Acc:5163]
Gene Synonyms
HPS
Location
Chromosome 10: 100,175,955-100,206,684 reverse strand.
GRCh37:CM000672.1
About this gene
This gene has 14 transcripts (splice variants) and is associated with 5 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000325103.6 | HPS1-009 | 3703 | 700aa | ENSP00000326649.6 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS7475 | Q92902 | NM_000195.3 | 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, |
| ENST00000361490.4 | HPS1-011 | 3678 | 700aa | ENSP00000355310.4 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS7475 | Q92902 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000338546.5 | HPS1-010 | 1580 | 324aa | ENSP00000343638.5 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS7476 | Q92902 | NM_182639.2 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000359632.3 | HPS1-013 | 978 | 326aa | ENSP00000352652.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | Q5TAA8 | - | 5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.CDS 5' and 3' incomplete, | |
| ENST00000414009.1 | HPS1-014 | 857 | 159aa | ENSP00000392462.1 | 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, | |
| ENST00000467246.1 | HPS1-012 | 2791 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000478087.1 | HPS1-001 | 971 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000465957.1 | HPS1-008 | 922 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000498219.1 | HPS1-003 | 845 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000470095.1 | HPS1-004 | 801 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000480020.1 | HPS1-002 | 795 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000474873.1 | HPS1-007 | 698 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000497527.1 | HPS1-006 | 536 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000462743.1 | HPS1-005 | 431 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - |
