Description

Hermansky-Pudlak syndrome 6 [Source:HGNC Symbol;Acc:HGNC:18817]

Synonyms

FLJ22501

INSDC coordinates

chromosome:GRCh38:CM000672.2:102065390:102068038:1

About this gene

This gene has 1 transcript (splice variant), 47 orthologues, is a member of 1 Ensembl protein family and is associated with 2 phenotypes.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
HPS6-001ENST000002992382649775aaENSP00000299238
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS7527Q86YV9 NM_024747
NP_079023
TSL:NA

Transcript Support Level Not Analysed. Pseudogenes, single exon transcripts, HLA, T-cell receptor and Ig transcripts are not analysed and therefore not given any of the TSL categories.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).APPRIS P1

PRINCIPAL1 - APPRIS candidate principal isoform.

APPRIS is a system to annotate alternatively spliced transcripts based on a range of computational methods.

Gene-based displays