Description
Hermansky-Pudlak syndrome 4 [Source:HGNC Symbol;Acc:15844]
Gene Synonyms
KIAA1667, LE
Location
Chromosome 22: 26,848,049-26,875,647 reverse strand.
About this transcript
This transcript has 12 exons, is annotated with 4 domains and features, is associated with 12703 variant alleles and maps to 701 oligo probes.
Gene
This transcript is a product of gene ENSG00000100099.16 Show transcript tableHide transcript table
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000398145.2 | HPS4-005 | 4497 | 708aa | ENSP00000381213.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS13835 | Q9NQG7 | NM_022081.5 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000398141.1 | HPS4-201 | 3919 | 721aa | ENSP00000381210.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | Q9NQG7 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000336873.5 | HPS4-006 | 3786 | 708aa | ENSP00000338457.5 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS13835 | Q9NQG7 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000402105.3 | HPS4-008 | 3562 | 703aa | ENSP00000384185.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS46677 | Q9NQG7 | NM_152841.2 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000422379.2 | HPS4-022 | 1942 | 481aa | ENSP00000415081.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | F1LLU8 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000464362.1 | HPS4-011 | 4277 | 167aa | ENSP00000430291.1 | Nonsense mediated decay | E5RG08 | - | - | |
| ENST00000439453.1 | HPS4-002 | 3936 | 196aa | ENSP00000406764.1 | Nonsense mediated decay | F8WC53 | - | - | |
| ENST00000429411.1 | HPS4-010 | 3492 | 191aa | ENSP00000399705.1 | Nonsense mediated decay | F8VYA9 | - | - | |
| ENST00000493455.2 | HPS4-021 | 986 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000483631.1 | HPS4-014 | 737 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000479064.1 | HPS4-012 | 697 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000473782.1 | HPS4-013 | 575 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000459918.1 | HPS4-017 | 556 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000491142.1 | HPS4-019 | 486 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000519774.1 | HPS4-024 | 471 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000466781.1 | HPS4-004 | 6136 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000496385.1 | HPS4-003 | 2772 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000481910.1 | HPS4-009 | 1914 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000485842.1 | HPS4-016 | 973 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |