Description

junctophilin 1 [Source:HGNC Symbol;Acc:HGNC:14201]

Synonyms

JP-1

Location
INSDC coordinates

chromosome:GRCh38:CM000670.2:74234700:74321328:1

About this gene

This gene has 3 transcripts (splice variants), 72 orthologues, 3 paralogues, is a member of 2 Ensembl protein families and is associated with 150 phenotypes.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
JPH1-001ENST000003422324378661aaENSP00000344488
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS6217Q9HDC5 NM_020647
NP_065698
TSL:1

Transcript Support Level 1, when transcripts are supported by at least one non-suspect mRNA.

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.

JPH1-003ENST00000519947165179aaENSP00000429652
 
Nonsense mediated decayTranscript is thought to undergo nonsense mediated decay, a process which detects nonsense mutations and prevents the expression of truncated or erroneous proteins.
-E5RHU9 -TSL:1

Transcript Support Level 1, when transcripts are supported by at least one non-suspect mRNA.

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.

JPH1-004ENST00000518195560No protein-
 
Processed transcriptTranscripts that don't contain an open reading frame (ORF) and cannot be placed in one of the other categories.
---TSL:4

Transcript Support Level 4, for transcripts supported by an EST flagged as suspect.

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.

Gene-based displays