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 associated with 14607 variant alleles and maps to 729 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: 0, Transcript length: 6,136 bps,

Transcript Support Level (TSL)

TSL:1

Version

ENST00000466781.5

Type

Retained intron

Annotation Method

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