Human (GRCh37.p13)
Description

Hermansky-Pudlak syndrome 4 [Source:HGNC Symbol;Acc:15844]

Gene Synonyms

KIAA1667, LE

Location

Chromosome 22: 26,839,389-26,879,803 reverse strand.

GRCh37:CM000684.1

About this gene

This gene has 19 transcripts (splice variants) and is associated with 4 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeqFlags
ENST00000398145.2HPS4-0054497708aaENSP00000381213.2
 
Protein coding
CCDS13835Q9NQG7 NM_022081.5GENCODE basic
ENST00000398141.1HPS4-2013919721aaENSP00000381210.1
 
Protein coding
Q9NQG7 -GENCODE basic
ENST00000336873.5HPS4-0063786708aaENSP00000338457.5
 
Protein coding
CCDS13835Q9NQG7 -GENCODE basic
ENST00000402105.3HPS4-0083562703aaENSP00000384185.3
 
Protein coding
CCDS46677Q9NQG7 NM_152841.2GENCODE basic
ENST00000422379.2HPS4-0221942481aaENSP00000415081.2
 
Protein coding
F1LLU8 -CDS 3' incomplete
ENST00000464362.1HPS4-0114277167aaENSP00000430291.1
 
Nonsense mediated decay
E5RG08 --
ENST00000439453.1HPS4-0023936196aaENSP00000406764.1
 
Nonsense mediated decay
F8WC53 --
ENST00000429411.1HPS4-0103492191aaENSP00000399705.1
 
Nonsense mediated decay
F8VYA9 --
ENST00000493455.2HPS4-021986No protein-
 
Processed transcript
---
ENST00000483631.1HPS4-014737No protein-
 
Processed transcript
---
ENST00000479064.1HPS4-012697No protein-
 
Processed transcript
---
ENST00000473782.1HPS4-013575No protein-
 
Processed transcript
---
ENST00000459918.1HPS4-017556No protein-
 
Processed transcript
---
ENST00000491142.1HPS4-019486No protein-
 
Processed transcript
---
ENST00000519774.1HPS4-024471No protein-
 
Processed transcript
---
ENST00000466781.1HPS4-0046136No protein-
 
Retained intron
---
ENST00000496385.1HPS4-0032772No protein-
 
Retained intron
---
ENST00000481910.1HPS4-0091914No protein-
 
Retained intron
---
ENST00000485842.1HPS4-016973No protein-
 
Retained intron
---