HAP1 huntingtin associated protein 1

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Information
Clinical Significance
Ranking
Frequency
Disease area statistics
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Information

Symbol: HAP1
Type: protein-coding
Description: huntingtin associated protein 1
Entrez Gene ID: 9001
Genome: hg19
Position: chr17:39,878,892-39,890,895
Genome: hg38
Position: chr17:41,722,640-41,734,643
MIM: 600947 OMIM
HGNC: HGNC:4812 HGNC
Ensembl: ENSG00000173805 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Benign	0	22
Likely benign	0	28
Uncertain significance	0	102

Ranking

	ClinVar
	0
	0
	6
	146
	0

Frequency

EXAC_EAS

EXAC_EAS

HGVD

HGVD

TOMMO

TOMMO

Gene

Position

EXAC_EAS

EXAC_EAS

HGVD

HGVD

TOMMO

TOMMO

Gene

Position

Disease area statistics

[No Data.]

Locus Zoom

Variants

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Target data	:	MGeND data only
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Variant name	Gene	AA change	CDS	Japanese frequency	TogoVar	MGeND				Genome	ClinVar			CIViC evidence	DisGeNET entry	COSMIC occurrence	Prediction
Variant name	Gene	AA change	CDS	Japanese frequency	TogoVar	Entry	Origin	Type	Annotation	Genome	Entry	Origin	Annotation	CIViC evidence	DisGeNET entry	COSMIC occurrence	Prediction

Search Word

Target data	:	MGeND data only
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Name	MGeND				Type	Genome	Size	Chromosome	Start	Stop	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry
Name	Entry	Origin	Type	Annotation	Type	Genome	Size	Chromosome	Start	Stop	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry

Search Word

Target data	:	MGeND data only
Category	:
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Name	MGeND				Type	Genome	Gene symbol	Chromosome	Genomic start	Genomic stop	Strand	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry
Name	Entry	Origin	Type	Annotation	Type	Genome	Gene symbol	Chromosome	Genomic start	Genomic stop	Strand	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry

Type	ID
SYNONYM	HAP2
SYNONYM	HIP5
SYNONYM	HLP
SYNONYM	hHLP1
MIM	600947 OMIM
HGNC	HGNC:4812 HGNC
Ensembl	ENSG00000173805 Ensembl
AllianceGenome	HGNC:4812

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000347901.9	hg38	chr17	41,722,640	41,734,643	12,004
ENST00000393939.6	hg38	chr17	41,720,813	41,734,644	13,832
ENST00000341193.9	hg38	chr17	41,722,640	41,734,644	12,005
ENST00000310778.5	hg38	chr17	41,722,640	41,734,644	12,005
ENST00000393939.6	hg19	chr17	39,877,065	39,890,896	13,832
ENST00000347901.9	hg19	chr17	39,878,892	39,890,895	12,004
ENST00000310778.5	hg19	chr17	39,878,892	39,890,896	12,005
ENST00000341193.9	hg19	chr17	39,878,892	39,890,896	12,005

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