Loading…

Summary
- Splice variants
- Transcript comparison
- Gene alleles
Sequence
- Secondary Structure
Comparative Genomics
- Paralogues
- Genomic alignments
- Gene tree
- Gene gain/loss tree
- Orthologues
Ontologies
Phenotypes
Genetic Variation
Gene expression
Pathway
Molecular interactions
Regulation
External references
Supporting evidence
ID History
- Gene history

Configure this page

Share this page

Bookmark this page

.

Gene: HPS4 ENSG00000100099

.

Description

Hermansky-Pudlak syndrome 4 [Source:HGNC Symbol;Acc:15844]

Gene Synonyms

KIAA1667, LE

Location

Chromosome 22: 26,839,389-26,879,803 reverse strand.

GRCh37:CM000684.1

About this gene

This gene has 19 transcripts (splice variants) and is associated with 4 phenotypes.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000398145.2	HPS4-005	4497	708aa	ENSP00000381213.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS13835	Q9NQG7	NM_022081.5	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, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000398141.1	HPS4-201	3919	721aa	ENSP00000381210.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		Q9NQG7	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000336873.5	HPS4-006	3786	708aa	ENSP00000338457.5	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS13835	Q9NQG7	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000402105.3	HPS4-008	3562	703aa	ENSP00000384185.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS46677	Q9NQG7	NM_152841.2	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000422379.2	HPS4-022	1942	481aa	ENSP00000415081.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding		F1LLU8	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000464362.1	HPS4-011	4277	167aa	ENSP00000430291.1	Nonsense mediated decay		E5RG08	-	-
ENST00000439453.1	HPS4-002	3936	196aa	ENSP00000406764.1	Nonsense mediated decay		F8WC53	-	-
ENST00000429411.1	HPS4-010	3492	191aa	ENSP00000399705.1	Nonsense mediated decay		F8VYA9	-	-
ENST00000493455.2	HPS4-021	986	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000483631.1	HPS4-014	737	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000479064.1	HPS4-012	697	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000473782.1	HPS4-013	575	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000459918.1	HPS4-017	556	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000491142.1	HPS4-019	486	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000519774.1	HPS4-024	471	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000466781.1	HPS4-004	6136	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000496385.1	HPS4-003	2772	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000481910.1	HPS4-009	1914	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000485842.1	HPS4-016	973	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-

.

Summary

.

.