Summary
- Splice variants
- Transcript comparison
- Gene alleles
Sequence
- Secondary Structure
Comparative Genomics
Ontologies
- GO: Anatomical entity
Phenotypes
Genetic Variation
Gene expression
Pathway
Molecular interactions
External references
Supporting evidence
ID History
- Gene history

Configure this page

Share this page

Bookmark this page

.

Gene: HPS5 ENSBTAG00000005147

.

Description

HPS5 biosis of lysosomal organelles complex 2 subunit 2 [Source:VGNC Symbol;Acc:VGNC:29946]

Location

Primary_assembly 29: 26,356,071-26,399,535 forward strand.

ARS-UCD2.0:CM008196.2

About this gene

This gene has 4 transcripts (splice variants), 209 orthologues and 1 paralogue.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	UniProt Match	Flags
ENSBTAT00000006797.7	HPS5-203	5003	1152aa	ENSBTAP00000006797.6	Gene/transcipt that contains an open reading frame (ORF).Protein coding	E1B8R7	A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, APPRIS ALT2: For genes in which the APPRIS core modules are unable to choose a clear principal isoform, the ALT1 is the candidate transcript(s) models that appear to be conserved in fewer than three tested species. APPRIS is a system to annotate alternatively spliced transcripts based on a range of computational methods to identify the most functionally important transcript(s) of a gene. APPRIS ALT2,
ENSBTAT00000111619.2	HPS5-202	4954	1130aa	ENSBTAP00000103822.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding	A0A3Q1MCK1 A0AAA9TYV5	APPRIS P2: Where the APPRIS core modules are unable to choose a clear principal variant (approximately 25% of human protein coding genes), the database chooses two or more of the CDS variants as "candidates" to be the principal variant. APPRIS is a system to annotate alternatively spliced transcripts based on a range of computational methods to identify the most functionally important transcript(s) of a gene. APPRIS P2,
ENSBTAT00000121924.2	HPS5-201	4669	1035aa	ENSBTAP00000102962.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	A0AAA9TZG4	APPRIS ALT2: For genes in which the APPRIS core modules are unable to choose a clear principal isoform, the ALT1 is the candidate transcript(s) models that appear to be conserved in fewer than three tested species. APPRIS is a system to annotate alternatively spliced transcripts based on a range of computational methods to identify the most functionally important transcript(s) of a gene. APPRIS ALT2,
ENSBTAT00000090206.1	HPS5-204	786	261aa	ENSBTAP00000085413.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	A0AAA9SN64	-

.

Summary

.

.