Human (GRCh38.p14)
Description

biogenesis of lysosomal organelles complex 1 subunit 6 [Source:HGNC Symbol;Acc:HGNC:8549]

Gene Synonyms

HPS9, PA, PLDN

Location
About this transcript

This transcript has 4 exons, is annotated with 1 domain and feature, is associated with 7867 variant alleles and maps to 148 oligo probes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000220531.9BLOC1S6-2013778172aaENSP00000220531.4
 
Protein coding
CCDS10126Q9UL45-1 NM_012388.4MANE SelectEnsembl CanonicalGENCODE basicAPPRIS P1TSL:1
ENST00000568816.5BLOC1S6-218401375aaENSP00000455021.1
 
Protein coding
H3BRA4 -GENCODE basicTSL:2
ENST00000565323.6BLOC1S6-2083838177aaENSP00000456851.1
 
Protein coding
CCDS81878H3BST1 -GENCODE basicTSL:2
ENST00000567461.5BLOC1S6-214105275aaENSP00000456152.1
 
Protein coding
H3BRA4 -GENCODE basicTSL:2
ENST00000564765.1BLOC1S6-20670646aaENSP00000454537.1
 
Protein coding
H3BMT8 -GENCODE basicTSL:4
ENST00000565409.5BLOC1S6-20961675aaENSP00000455599.1
 
Protein coding
H3BRA4 -GENCODE basicTSL:4
ENST00000565216.5BLOC1S6-207573131aaENSP00000456067.1
 
Protein coding
H3BR42 -GENCODE basicTSL:3
ENST00000569076.5BLOC1S6-220557113aaENSP00000454803.1
 
Protein coding
H3BNE3 -TSL:4CDS 3' incomplete
ENST00000562384.5BLOC1S6-20249475aaENSP00000457077.1
 
Protein coding
H3BRA4 -GENCODE basicTSL:4
ENST00000566801.5BLOC1S6-21333821aaENSP00000454715.1
 
Protein coding
H3BN73 -TSL:4CDS 3' incomplete
ENST00000567523.5BLOC1S6-215183980aaENSP00000456624.1
 
Nonsense mediated decay
Q9UL45-2 -TSL:2
ENST00000568597.5BLOC1S6-21759286aaENSP00000454638.1
 
Nonsense mediated decay
H3BN13 -TSL:2
ENST00000564310.2BLOC1S6-20558658aaENSP00000455439.2
 
Nonsense mediated decay
H3BPR6 -TSL:3CDS 5' incomplete
ENST00000568963.5BLOC1S6-21948043aaENSP00000454438.1
 
Nonsense mediated decay
H3BML5 -TSL:4
ENST00000672455.1BLOC1S6-22143947aaENSP00000500302.1
 
Nonsense mediated decay
A0A5F9ZHH0 --
ENST00000567740.5BLOC1S6-2161051No protein-
 
Protein coding CDS not defined
--TSL:2
ENST00000563000.5BLOC1S6-203622No protein-
 
Protein coding CDS not defined
--TSL:4
ENST00000565727.5BLOC1S6-210599No protein-
 
Protein coding CDS not defined
--TSL:2
ENST00000563160.5BLOC1S6-204581No protein-
 
Protein coding CDS not defined
--TSL:4
ENST00000566753.5BLOC1S6-2121996No protein-
 
Retained intron
--TSL:2
ENST00000566184.1BLOC1S6-211493No protein-
 
Retained intron
--TSL:4
Statistics

Exons: 4, Coding exons: 2, Transcript length: 480 bps, Translation length: 43 residues

Transcript Support Level (TSL)

TSL:4

Version

ENST00000568963.5

Type

Nonsense mediated decay

Annotation Method

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