Transcript: ENST00000349215.3 HPS5-001

Description

Hermansky-Pudlak syndrome 5 [Source:HGNC Symbol;Acc:17022]

Gene Synonyms

AIBP63, KIAA1017

Location

Chromosome 11: 18,300,606-18,343,721 reverse strand.

About this transcript

This transcript has 23 exons, is annotated with 11 domains and features, is associated with 19167 variant alleles and maps to 674 oligo probes.

Gene

This transcript is a product of gene ENSG00000110756.13 Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000396253.3	HPS5-002	4717	1015aa	ENSP00000379552.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS7837	F5GWM5 Q9UPZ3	NM_007216.3	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000349215.3	HPS5-001	4491	1129aa	ENSP00000265967.5	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS7836	F5GWM5 Q9UPZ3	NM_181507.1	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000438420.2	HPS5-005	4147	1015aa	ENSP00000399590.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS7837	F5GWM5 Q9UPZ3	NM_181508.1	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000531848.1	HPS5-003	2160	400aa	ENSP00000431758.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		G3V159	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000537258.1	HPS5-007	1275	263aa	ENSP00000437437.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		F5H6Q8	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000544218.1	HPS5-009	759	160aa	ENSP00000441781.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		F5GWM5	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000352460.3	HPS5-006	1642	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000589545.1	HPS5-012	485	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000543728.1	HPS5-010	320	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000545561.1	HPS5-008	1121	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000399287.3	HPS5-004	711	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: 23, Coding exons: 22, Transcript length: 4,491 bps, Translation length: 1,129 residues

Uniprot

This transcript corresponds to the following Uniprot identifiers: Q9UPZ3

CCDS

This transcript is a member of the Human CCDS set: CCDS7836

Version

ENST00000349215.3

Type

Protein coding

Annotation Method

Transcript where the Ensembl genebuild transcript and the Havana manual annotation have the same sequence, for every base pair. See article.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Transcript having exact match between ENSEMBL and HAVANA:	OTTHUMT00000390808 (version 1)

Annotation Attributes

dotter confirmed [Definitions]

GENCODE basic gene

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

Favourite species

All species

Recent locations

Transcript: ENST00000349215.3 HPS5-001

Summary