KAT5 lysine acetyltransferase 5
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 6 |
Benign | 0 | 22 |
Likely benign | 0 | 24 |
not provided | 0 | 2 |
Uncertain significance | 0 | 134 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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10 |
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164 |
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6 |
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 |
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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 |
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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 | |||
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Entry | Origin | Type | Annotation |
Type | ID |
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SYNONYM | ESA1 |
SYNONYM | HTATIP |
SYNONYM | HTATIP1 |
SYNONYM | NEDFASB |
SYNONYM | PLIP |
SYNONYM | TIP |
SYNONYM | TIP60 |
SYNONYM | ZC2HC5 |
SYNONYM | cPLA2 |
MIM | 601409 OMIM |
HGNC | HGNC:5275 HGNC |
Ensembl | ENSG00000172977 Ensembl |
AllianceGenome | HGNC:5275 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000341318.9 | hg38 | chr11 | 65,712,252 | 65,719,604 | 7,353 |
ENST00000352980.8 | hg38 | chr11 | 65,712,018 | 65,719,604 | 7,587 |
ENST00000530446.5 | hg38 | chr11 | 65,712,239 | 65,719,364 | 7,126 |
ENST00000534650.5 | hg38 | chr11 | 65,712,620 | 65,719,603 | 6,984 |
ENST00000377046.7 | hg38 | chr11 | 65,711,996 | 65,719,604 | 7,609 |
ENST00000352980.8 | hg19 | chr11 | 65,479,489 | 65,487,075 | 7,587 |
ENST00000377046.7 | hg19 | chr11 | 65,479,467 | 65,487,075 | 7,609 |
ENST00000341318.9 | hg19 | chr11 | 65,479,723 | 65,487,075 | 7,353 |
ENST00000530446.5 | hg19 | chr11 | 65,479,710 | 65,486,835 | 7,126 |
ENST00000534650.5 | hg19 | chr11 | 65,480,091 | 65,487,074 | 6,984 |
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