Transcript: ENST00000462030.1 HPS3-002

Description

Hermansky-Pudlak syndrome 3 [Source:HGNC Symbol;Acc:15597]

Gene Synonyms

SUTAL

Location

Chromosome 3: 148,847,425-148,871,922 forward strand.

About this transcript

This transcript has 7 exons, is associated with 10892 variant alleles and maps to 315 oligo probes.

Gene

This transcript is a product of gene ENSG00000163755.4 Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000296051.2	HPS3-001	4665	1004aa	ENSP00000296051.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS3140	Q8N3N1 Q969F9	NM_032383.3	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000460120.1	HPS3-003	2745	839aa	ENSP00000418230.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		G5E9V4 Q8N3N1	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000460822.1	HPS3-005	1958	266aa	ENSP00000419824.1	Nonsense mediated decay		H7C5G2	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000494327.1	HPS3-006	556	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000462030.1	HPS3-002	2486	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000486530.1	HPS3-004	1894	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000478525.1	HPS3-007	601	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-

Summary

Statistics

Exons: 7, Coding exons: 0, Transcript length: 2,486 bps,

Version

ENST00000462030.1

Type

Retained intron

Annotation Method

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

Alternative transcripts

This transcript corresponds to the following database identifiers:

Havana transcript:	OTTHUMT00000356152 (version 1)

Favourite species

All species

Recent locations

Transcript: ENST00000462030.1 HPS3-002

Summary