TP63 tumor protein p63
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 10 | 126 |
Likely pathogenic | 0 | 100 |
Benign | 10 | 218 |
Likely benign | 0 | 420 |
Conflicting classifications of pathogenicity | 0 | 72 |
not provided | 24 | 0 |
Uncertain significance | 0 | 506 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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192 |
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1,060 |
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44 |
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 | |||||
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
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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 | |||
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Entry | Origin | Type | Annotation |
Search Word
Target data | : |
MGeND data only
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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 | |||
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Entry | Origin | Type | Annotation |
Type | ID |
---|---|
SYNONYM | AIS |
SYNONYM | B(p51A) |
SYNONYM | B(p51B) |
SYNONYM | EEC3 |
SYNONYM | KET |
SYNONYM | LMS |
SYNONYM | NBP |
SYNONYM | OFC8 |
SYNONYM | RHS |
SYNONYM | SHFM4 |
SYNONYM | TP53CP |
SYNONYM | TP53L |
SYNONYM | TP73L |
SYNONYM | p40 |
SYNONYM | p51 |
SYNONYM | p53CP |
SYNONYM | p63 |
SYNONYM | p73H |
SYNONYM | p73L |
MIM | 603273 OMIM |
HGNC | HGNC:15979 HGNC |
Ensembl | ENSG00000073282 Ensembl |
AllianceGenome | HGNC:15979 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000418709.6 | hg38 | chr3 | 189,631,488 | 189,881,496 | 250,009 |
ENST00000449992.5 | hg38 | chr3 | 189,789,801 | 189,894,502 | 104,702 |
ENST00000354600.10 | hg38 | chr3 | 189,789,659 | 189,897,276 | 107,618 |
ENST00000392463.6 | hg38 | chr3 | 189,789,801 | 189,894,221 | 104,421 |
ENST00000392461.7 | hg38 | chr3 | 189,789,801 | 189,894,231 | 104,431 |
ENST00000392460.7 | hg38 | chr3 | 189,631,516 | 189,894,221 | 262,706 |
ENST00000440651.6 | hg38 | chr3 | 189,631,516 | 189,894,502 | 262,987 |
ENST00000456148.1 | hg38 | chr3 | 189,789,801 | 189,894,502 | 104,702 |
ENST00000437221.5 | hg38 | chr3 | 189,789,801 | 189,881,496 | 91,696 |
ENST00000264731.8 | hg38 | chr3 | 189,631,389 | 189,897,276 | 265,888 |
ENST00000320472.9 | hg38 | chr3 | 189,631,488 | 189,894,702 | 263,215 |
ENST00000264731.8 | hg19 | chr3 | 189,349,178 | 189,615,065 | 265,888 |
ENST00000418709.6 | hg19 | chr3 | 189,349,277 | 189,599,285 | 250,009 |
ENST00000320472.9 | hg19 | chr3 | 189,349,277 | 189,612,491 | 263,215 |
ENST00000392460.7 | hg19 | chr3 | 189,349,305 | 189,612,010 | 262,706 |
ENST00000440651.6 | hg19 | chr3 | 189,349,305 | 189,612,291 | 262,987 |
ENST00000354600.10 | hg19 | chr3 | 189,507,448 | 189,615,065 | 107,618 |
ENST00000437221.5 | hg19 | chr3 | 189,507,590 | 189,599,285 | 91,696 |
ENST00000392463.6 | hg19 | chr3 | 189,507,590 | 189,612,010 | 104,421 |
ENST00000392461.7 | hg19 | chr3 | 189,507,590 | 189,612,020 | 104,431 |
ENST00000449992.5 | hg19 | chr3 | 189,507,590 | 189,612,291 | 104,702 |
ENST00000456148.1 | hg19 | chr3 | 189,507,590 | 189,612,291 | 104,702 |
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