Description

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

Synonyms

KIAA1667, LE

Location

Chromosome 22: 26,443,423-26,483,837 reverse strand.

GRCh38:CM000684.2

About this gene

This gene has 18 transcripts (splice variants), 60 orthologues, is a member of 1 Ensembl protein family and is associated with 2 phenotypes.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
HPS4-005ENST000003981454497708aaENSP00000381213
 
Protein coding
CCDS13835Q9NQG7 NM_022081
NP_071364
TSL:1GENCODE basicAPPRIS P3
HPS4-006ENST000003368733786708aaENSP00000338457
 
Protein coding
CCDS13835Q9NQG7 -TSL:5GENCODE basicAPPRIS P3
HPS4-008ENST000004021053562703aaENSP00000384185
 
Protein coding
CCDS46677Q9NQG7 NM_152841
NP_690054
TSL:1GENCODE basicAPPRIS ALT2
HPS4-022ENST000004223791942481aaENSP00000415081
 
Protein coding
-F1LLU8 -CDS 3' incompleteTSL:5APPRIS ALT2
HPS4-011ENST000004643624277167aaENSP00000430291
 
Nonsense mediated decay
-E5RG08 -TSL:5APPRIS ALT2
HPS4-002ENST000004394533936196aaENSP00000406764
 
Nonsense mediated decay
-F8WC53 -TSL:1APPRIS ALT2
HPS4-010ENST000004294113492191aaENSP00000399705
 
Nonsense mediated decay
-F8VYA9 -TSL:2APPRIS ALT2
HPS4-021ENST00000493455986No protein-
 
Processed transcript
---TSL:3
HPS4-014ENST00000483631737No protein-
 
Processed transcript
---TSL:3
HPS4-012ENST00000479064697No protein-
 
Processed transcript
---TSL:3
HPS4-013ENST00000473782575No protein-
 
Processed transcript
---TSL:2
HPS4-017ENST00000459918556No protein-
 
Processed transcript
---TSL:5
HPS4-019ENST00000491142486No protein-
 
Processed transcript
---TSL:2
HPS4-024ENST00000519774471No protein-
 
Processed transcript
---TSL:2
HPS4-004ENST000004667816136No protein-
 
Retained intron
---TSL:1
HPS4-003ENST000004963852772No protein-
 
Retained intron
---TSL:2
HPS4-009ENST000004819101914No protein-
 
Retained intron
---TSL:2
HPS4-016ENST00000485842973No protein-
 
Retained intron
---TSL:3

Gene-based displays