Description

HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 [Source:HGNC Symbol;Acc:HGNC:15844]

Synonyms

KIAA1667, BLOC3S2, LE

Location
About this transcript

This transcript has 14 exons, is annotated with 4 domains and features, is associated with 848 variations and maps to 737 oligo probes.

Gene
NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
HPS4-202ENST00000398145.64497708aaENSP00000381213
 
Protein coding
CCDS13835Q9NQG7 NM_022081
NP_001336825
NP_001336827
NP_001336828
NP_001336829
NP_001336830
NP_001336833
NP_001336834
NP_071364
TSL:1GENCODE basicAPPRIS P1
HPS4-201ENST00000336873.93786708aaENSP00000338457
 
Protein coding
CCDS13835Q9NQG7 NP_001336825
NP_001336827
NP_001336828
NP_001336829
NP_001336830
NP_001336833
NP_001336834
TSL:5GENCODE basicAPPRIS P1
HPS4-203ENST00000402105.73562703aaENSP00000384185
 
Protein coding
CCDS46677Q9NQG7 NM_152841
NP_690054
TSL:1GENCODE basic
HPS4-204ENST00000422379.21942481aaENSP00000415081
 
Protein coding
-F1LLU8 -CDS 3' incompleteTSL:5
HPS4-208ENST00000464362.54277167aaENSP00000430291
 
Nonsense mediated decay
-E5RG08 -TSL:5
HPS4-206ENST00000439453.53936196aaENSP00000406764
 
Nonsense mediated decay
-F8WC53 NR_073135
TSL:1
HPS4-205ENST00000429411.53492191aaENSP00000399705
 
Nonsense mediated decay
-F8VYA9 NR_073136
TSL:2
HPS4-216ENST00000493455.6986No protein-
 
Processed transcript
---TSL:3
HPS4-213ENST00000483631.1737No protein-
 
Processed transcript
---TSL:3
HPS4-211ENST00000479064.5697No protein-
 
Processed transcript
---TSL:3
HPS4-210ENST00000473782.1575No protein-
 
Processed transcript
---TSL:2
HPS4-207ENST00000459918.1556No protein-
 
Processed transcript
---TSL:5
HPS4-215ENST00000491142.1486No protein-
 
Processed transcript
---TSL:2
HPS4-218ENST00000519774.5471No protein-
 
Processed transcript
---TSL:2
HPS4-209ENST00000466781.56136No protein-
 
Retained intron
---TSL:1
HPS4-217ENST00000496385.52772No protein-
 
Retained intron
---TSL:2
HPS4-212ENST00000481910.11914No protein-
 
Retained intron
---TSL:2
HPS4-214ENST00000485842.5973No protein-
 
Retained intron
---TSL:3
Statistics

Exons: 14, Coding exons: 13, Transcript length: 4,497 bps, Translation length: 708 residues

CCDS

This transcript is a member of the Human CCDS set: CCDS13835

Uniprot

This transcript corresponds to the following Uniprot identifiers: Q9NQG7

Transcript Support Level (TSL)

TSL:1

Version

ENST00000398145.6

Type

Protein coding

Annotation Method

Transcript where the Ensembl genebuild transcript and the Vega manual annotation have the same sequence, for every base pair. See article.

GENCODE basic gene

This transcript is a member of the Gencode basic gene set.

Transcript-based displays