Human (GRCh38.p14)
Description

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

Gene Synonyms

BLOC3S2, KIAA1667, LE

Location
About this transcript

This transcript has 13 exons, is annotated with 7 domains and features, is associated with 15082 variant alleles and maps to 691 oligo probes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000398145.7HPS4-2025066708aaENSP00000381213.2
 
Protein coding
CCDS13835Q9NQG7-1 NM_022081.6MANE SelectEnsembl CanonicalGENCODE basicAPPRIS P2TSL:1
ENST00000473782.2HPS4-2104586708aaENSP00000514223.1
 
Protein coding
CCDS13835Q9NQG7-1 -GENCODE basicAPPRIS P2TSL:2
ENST00000422379.3HPS4-2044416726aaENSP00000415081.3
 
Protein coding
CCDS93140F1LLU8 -GENCODE basicAPPRIS ALT2TSL:5
ENST00000699242.1HPS4-2344355678aaENSP00000514231.1
 
Protein coding
A0A8V8TPP9 -GENCODE basicAPPRIS ALT2
ENST00000483631.2HPS4-2134331443aaENSP00000514228.1
 
Protein coding
A0A8V8TPB3 -GENCODE basicAPPRIS ALT2TSL:3
ENST00000699244.1HPS4-2364315659aaENSP00000514233.1
 
Protein coding
A0A8V8TN01 -GENCODE basicAPPRIS ALT2
ENST00000699235.1HPS4-2274311443aaENSP00000514224.1
 
Protein coding
A0A8V8TPB3 -GENCODE basicAPPRIS ALT2
ENST00000699251.1HPS4-2434297680aaENSP00000514238.1
 
Protein coding
CCDS93139A0A8V8TN06 -GENCODE basicAPPRIS ALT2
ENST00000699250.1HPS4-2424164649aaENSP00000514237.1
 
Protein coding
CCDS93138A0A8V8TMY3 -GENCODE basicAPPRIS ALT2
ENST00000336873.9HPS4-2013786708aaENSP00000338457.5
 
Protein coding
CCDS13835Q9NQG7-1 -GENCODE basicAPPRIS P2TSL:5
ENST00000402105.7HPS4-2033562703aaENSP00000384185.3
 
Protein coding
CCDS46677Q9NQG7-3 -GENCODE basicAPPRIS ALT2TSL:1
ENST00000699247.1HPS4-2393341360aaENSP00000514235.1
 
Protein coding
A0A8V8TNF3 -GENCODE basicAPPRIS ALT2
ENST00000699241.1HPS4-2335208196aaENSP00000514230.1
 
Nonsense mediated decay
F8WC53 --
ENST00000699240.1HPS4-2324599172aaENSP00000514229.1
 
Nonsense mediated decay
A0A8V8TPB5 --
ENST00000699238.1HPS4-2304541196aaENSP00000514227.1
 
Nonsense mediated decay
F8WC53 --
ENST00000699243.1HPS4-2354473226aaENSP00000514232.1
 
Nonsense mediated decay
A0A8V8TMW9 --
ENST00000699246.1HPS4-2384408196aaENSP00000514234.1
 
Nonsense mediated decay
F8WC53 --
ENST00000699236.1HPS4-2284378237aaENSP00000514225.1
 
Nonsense mediated decay
A0A8V8TNE4 --
ENST00000699237.1HPS4-2294363255aaENSP00000514226.1
 
Nonsense mediated decay
A0A8V8TPP5 --
ENST00000699234.1HPS4-2264345221aaENSP00000514222.1
 
Nonsense mediated decay
A0A8V8TMZ0 --
ENST00000464362.5HPS4-2084277167aaENSP00000430291.1
 
Nonsense mediated decay
E5RG08 -TSL:5
ENST00000491142.2HPS4-2154156708aaENSP00000514221.1
 
Nonsense mediated decay
CCDS13835Q9NQG7-1 -TSL:2
ENST00000699249.1HPS4-2414132226aaENSP00000514236.1
 
Nonsense mediated decay
A0A8V8TMW9 --
ENST00000699227.1HPS4-2194110226aaENSP00000514220.1
 
Nonsense mediated decay
A0A8V8TMW9 --
ENST00000439453.5HPS4-2063936196aaENSP00000406764.1
 
Nonsense mediated decay
F8WC53 -TSL:1
ENST00000429411.5HPS4-2053492191aaENSP00000399705.1
 
Nonsense mediated decay
F8VYA9 -TSL:2
ENST00000699228.1HPS4-2204093No protein-
 
Protein coding CDS not defined
---
ENST00000699233.1HPS4-2253736No protein-
 
Protein coding CDS not defined
---
ENST00000479064.5HPS4-211697No protein-
 
Protein coding CDS not defined
--TSL:3
ENST00000459918.1HPS4-207556No protein-
 
Protein coding CDS not defined
--TSL:5
ENST00000519774.5HPS4-217471No protein-
 
Protein coding CDS not defined
--TSL:2
ENST00000699231.1HPS4-2236877No protein-
 
Retained intron
---
ENST00000699239.1HPS4-2316619No protein-
 
Retained intron
---
ENST00000699226.1HPS4-2186469No protein-
 
Retained intron
---
ENST00000466781.5HPS4-2096136No protein-
 
Retained intron
--TSL:1
ENST00000699248.1HPS4-2405636No protein-
 
Retained intron
---
ENST00000699232.1HPS4-2245221No protein-
 
Retained intron
---
ENST00000699230.1HPS4-2224588No protein-
 
Retained intron
---
ENST00000699257.1HPS4-2493412No protein-
 
Retained intron
---
ENST00000699229.1HPS4-2213282No protein-
 
Retained intron
---
ENST00000699245.1HPS4-2373136No protein-
 
Retained intron
---
ENST00000699252.1HPS4-2442996No protein-
 
Retained intron
---
ENST00000699254.1HPS4-2462869No protein-
 
Retained intron
---
ENST00000496385.5HPS4-2162772No protein-
 
Retained intron
--TSL:2
ENST00000699253.1HPS4-2452693No protein-
 
Retained intron
---
ENST00000699255.1HPS4-2472199No protein-
 
Retained intron
---
ENST00000481910.1HPS4-2121914No protein-
 
Retained intron
--TSL:2
ENST00000699256.1HPS4-2481167No protein-
 
Retained intron
---
ENST00000485842.5HPS4-214973No protein-
 
Retained intron
--TSL:3
Statistics

Exons: 13, Coding exons: 5, Transcript length: 4,331 bps, Translation length: 443 residues

Transcript Support Level (TSL)

TSL:3

Version

ENST00000483631.2

Type

Protein coding

Annotation Method

Manual annotation (determined on a case-by-case basis) from the Havana project.

Annotation Attributes

RNA-Seq supported only [Definitions]

GENCODE basic gene

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