PNN pinin, desmosome associated protein

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

Symbol: PNN
Type: protein-coding
Description: pinin, desmosome associated protein
Entrez Gene ID: 5411
Genome: hg19
Position: chr14:39,644,458-39,652,424
Genome: hg38
Position: chr14:39,175,254-39,183,220
MIM: 603154 OMIM
HGNC: HGNC:9162 HGNC
Ensembl: ENSG00000100941 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Benign	0	8
Likely benign	0	2
Uncertain significance	0	74

Ranking

	ClinVar
	0
	0
	2
	80
	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
Category	:
Search word	:
Filtering	:

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	DRS
SYNONYM	DRSP
SYNONYM	SDK3
SYNONYM	memA
MIM	603154 OMIM
HGNC	HGNC:9162 HGNC
Ensembl	ENSG00000100941 Ensembl
AllianceGenome	HGNC:9162

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000216832.9	hg38	chr14	39,175,254	39,183,220	7,967
ENST00000556530.1	hg38	chr14	39,175,230	39,177,708	2,479
ENST00000553331.5	hg38	chr14	39,175,183	39,179,246	4,064
ENST00000553331.5	hg19	chr14	39,644,387	39,648,450	4,064
ENST00000556530.1	hg19	chr14	39,644,434	39,646,912	2,479
ENST00000216832.9	hg19	chr14	39,644,458	39,652,424	7,967

Key	Value
strand	+
UniProt	TSG
start	39,644,386
Gene Symbol	PNN
Entrez GeneId	5,411
Chr Band	14q21.1
end	39,652,421
chr	chr14

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