Description

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

Synonyms

FLJ22501

About this transcript

This transcript has 1 exon, is annotated with 9 domains and features, is associated with 232 variations and maps to 19 oligo probes.

Gene
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.

Statistics

Exons: 1 Coding exons: 1 Transcript length: 2,649 bps Translation length: 775 residues

CCDS

This transcript is a member of the Human CCDS set: CCDS7527

Uniprot

This transcript corresponds to the following Uniprot identifiers: Q86YV9

Transcript Support Level (TSL)

TSL:NA

Ensembl version

ENST00000299238.6

Type

Known 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.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Havana transcript:
GENCODE basic gene

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

Transcript-based displays