PSMC3IP PSMC3 interacting protein

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Information
Clinical Significance
Ranking
Frequency
Disease area statistics
Locus Zoom
Variants
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Information

Symbol: PSMC3IP
Type: protein-coding
Description: PSMC3 interacting protein
Entrez Gene ID: 29893
Genome: hg19
Position: chr17:40,724,328-40,729,747
Genome: hg38
Position: chr17:42,572,310-42,577,729
MIM: 608665 OMIM
HGNC: HGNC:17928 HGNC
Ensembl: ENSG00000131470 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	0	2
Benign	0	24
Likely benign	0	8
Uncertain significance	0	34

Ranking

	ClinVar
	0
	0
	12
	56
	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

Search Word

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
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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	GT198
SYNONYM	HOP2
SYNONYM	HUMGT198A
SYNONYM	ODG3
SYNONYM	TBPIP
MIM	608665 OMIM
HGNC	HGNC:17928 HGNC
Ensembl	ENSG00000131470 Ensembl
AllianceGenome	HGNC:17928

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000393795.8	hg38	chr17	42,572,310	42,577,729	5,420
ENST00000253789.9	hg38	chr17	42,572,323	42,577,831	5,509
ENST00000587209.5	hg38	chr17	42,572,343	42,577,697	5,355
ENST00000590760.5	hg38	chr17	42,572,962	42,577,696	4,735
ENST00000393795.8	hg19	chr17	40,724,328	40,729,747	5,420
ENST00000253789.9	hg19	chr17	40,724,341	40,729,849	5,509
ENST00000587209.5	hg19	chr17	40,724,361	40,729,715	5,355
ENST00000590760.5	hg19	chr17	40,724,980	40,729,714	4,735

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