PARPBP PARP1 binding protein
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 2 |
Likely benign | 0 | 4 |
Uncertain significance | 0 | 72 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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0 |
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78 |
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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 | |||||
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
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 | |||
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Entry | Origin | Type | Annotation |
Search Word
Target data | : |
MGeND data only
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Category | : |
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Search word | : | |
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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 | |||
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Entry | Origin | Type | Annotation |
Type | ID |
---|---|
SYNONYM | AROM |
SYNONYM | C12orf48 |
SYNONYM | PARI |
MIM | 613687 OMIM |
HGNC | HGNC:26074 HGNC |
Ensembl | ENSG00000185480 Ensembl |
AllianceGenome | HGNC:26074 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000392911.6 | hg38 | chr12 | 102,120,247 | 102,196,429 | 76,183 |
ENST00000537257.5 | hg38 | chr12 | 102,120,245 | 102,149,007 | 28,763 |
ENST00000327680.7 | hg38 | chr12 | 102,120,183 | 102,197,520 | 77,338 |
ENST00000541394.5 | hg38 | chr12 | 102,120,185 | 102,196,667 | 76,483 |
ENST00000543784.5 | hg38 | chr12 | 102,120,195 | 102,196,368 | 76,174 |
ENST00000327680.7 | hg19 | chr12 | 102,513,961 | 102,591,298 | 77,338 |
ENST00000541394.5 | hg19 | chr12 | 102,513,963 | 102,590,445 | 76,483 |
ENST00000543784.5 | hg19 | chr12 | 102,513,973 | 102,590,146 | 76,174 |
ENST00000537257.5 | hg19 | chr12 | 102,514,023 | 102,542,785 | 28,763 |
ENST00000392911.6 | hg19 | chr12 | 102,514,025 | 102,590,207 | 76,183 |
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