Description
Hermansky-Pudlak syndrome 4
Synonyms
LE, BLOC3S2, KIAA1667
Location
Chromosome 22: 26,443,423-26,483,837 reverse strand.
VEGA68:CM000684.2
About this gene
This gene has 18 transcripts (splice variants), 2 orthologues and 1 paralogue.
Transcripts
| Name | Transcript ID | bp | Protein | Translation ID | Biotype | CCDS | UniProt | Flags |
|---|---|---|---|---|---|---|---|---|
| HPS4-005 | OTTHUMT00000320778.1 | 4497 | 708aa | OTTHUMP00000198859 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | CCDS13835 | Q9NQG7 | |
| HPS4-006 | OTTHUMT00000320779.2 | 3786 | 708aa | OTTHUMP00000198860 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | CCDS13835 | Q9NQG7 | |
| HPS4-008 | OTTHUMT00000320781.2 | 3562 | 703aa | OTTHUMP00000199897 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | CCDS46677 | - | |
| HPS4-022 | OTTHUMT00000377675.3 | 1942 | 481aa | OTTHUMP00000226125 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | - | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete |
| HPS4-011 | OTTHUMT00000320784.2 | 4277 | 167aa | OTTHUMP00000226124 | Transcript is thought to undergo nonsense mediated decay, a process which detects nonsense mutations and prevents the expression of truncated or erroneous proteins. Nonsense mediated decay | - | - | |
| HPS4-002 | OTTHUMT00000257730.2 | 3936 | 196aa | OTTHUMP00000198863 | Transcript is thought to undergo nonsense mediated decay, a process which detects nonsense mutations and prevents the expression of truncated or erroneous proteins. Nonsense mediated decay | - | - | |
| HPS4-010 | OTTHUMT00000320783.2 | 3492 | 191aa | OTTHUMP00000198861 | Transcript is thought to undergo nonsense mediated decay, a process which detects nonsense mutations and prevents the expression of truncated or erroneous proteins. Nonsense mediated decay | - | - | |
| HPS4-021 | OTTHUMT00000320792.2 | 986 | No protein | - | <p>Transcripts that don't contain an open reading frame (ORF) and cannot be placed in one of the other categories.</p>Processed transcript | - | - | |
| HPS4-014 | OTTHUMT00000320787.1 | 737 | No protein | - | <p>Transcripts that don't contain an open reading frame (ORF) and cannot be placed in one of the other categories.</p>Processed transcript | - | - | |
| HPS4-012 | OTTHUMT00000320785.1 | 697 | No protein | - | <p>Transcripts that don't contain an open reading frame (ORF) and cannot be placed in one of the other categories.</p>Processed transcript | - | - | |
| HPS4-013 | OTTHUMT00000320786.1 | 575 | No protein | - | <p>Transcripts that don't contain an open reading frame (ORF) and cannot be placed in one of the other categories.</p>Processed transcript | - | - | |
| HPS4-017 | OTTHUMT00000320789.1 | 556 | No protein | - | <p>Transcripts that don't contain an open reading frame (ORF) and cannot be placed in one of the other categories.</p>Processed transcript | - | - | |
| HPS4-019 | OTTHUMT00000320790.1 | 486 | No protein | - | <p>Transcripts that don't contain an open reading frame (ORF) and cannot be placed in one of the other categories.</p>Processed transcript | - | - | |
| HPS4-024 | OTTHUMT00000377673.1 | 471 | No protein | - | <p>Transcripts that don't contain an open reading frame (ORF) and cannot be placed in one of the other categories.</p>Processed transcript | - | - | |
| HPS4-004 | OTTHUMT00000320777.1 | 6136 | No protein | - | <p>Alternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.</p>Retained intron | - | - | |
| HPS4-003 | OTTHUMT00000257731.2 | 2772 | No protein | - | <p>Alternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.</p>Retained intron | - | - | |
| HPS4-009 | OTTHUMT00000320782.1 | 1914 | No protein | - | <p>Alternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.</p>Retained intron | - | - | |
| HPS4-016 | OTTHUMT00000320788.2 | 973 | No protein | - | <p>Alternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.</p>Retained intron | - | - |
