DDB2 damage specific DNA binding protein 2

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Information
Clinical Significance
Ranking
Frequency
Disease area statistics
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Information

Symbol: DDB2
Type: protein-coding
Description: damage specific DNA binding protein 2
Entrez Gene ID: 1643
Genome: hg19
Position: chr11:47,236,525-47,260,768
Genome: hg38
Position: chr11:47,214,974-47,239,217
MIM: 600811 OMIM
HGNC: HGNC:2718 HGNC
Ensembl: ENSG00000134574 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	0	16
Likely pathogenic	0	8
Benign	0	44
Likely benign	0	54
Conflicting classifications of pathogenicity	0	18
not provided	0	4
Uncertain significance	5	114

Ranking

	ClinVar
	0
	0
	20
	200
	8

Frequency

EXAC_EAS

EXAC_EAS

HGVD

HGVD

TOMMO

TOMMO

Gene

Position

EXAC_EAS

EXAC_EAS

HGVD

HGVD

TOMMO

TOMMO

Gene

Position

Disease area statistics

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

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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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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	DDBB
SYNONYM	UV-DDB2
SYNONYM	XPE
MIM	600811 OMIM
HGNC	HGNC:2718 HGNC
Ensembl	ENSG00000134574 Ensembl
AllianceGenome	HGNC:2718

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000256996.9	hg38	chr11	47,214,974	47,239,217	24,244
ENST00000378600.7	hg38	chr11	47,215,137	47,238,849	23,713
ENST00000378603.7	hg38	chr11	47,215,137	47,238,849	23,713
ENST00000256996.9	hg19	chr11	47,236,525	47,260,768	24,244
ENST00000378600.7	hg19	chr11	47,236,688	47,260,400	23,713
ENST00000378603.7	hg19	chr11	47,236,688	47,260,400	23,713

Key	Value
strand	+
start	47,236,492
Gene Symbol	DDB2
Entrez GeneId	1,643
Chr Band	11p12
end	47,260,768
chr	chr11
Name	damage-specific DNA binding protein 2

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