XAF1 XIAP associated factor 1
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 2 |
| Likely benign | 0 | 4 |
| Uncertain significance | 0 | 34 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
40 |
 |
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
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| Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | Entry | Origin | Annotation | |||||||||||
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| Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | ||||||||||||||
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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 | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | BIRC4BP |
| SYNONYM | HSXIAPAF1 |
| SYNONYM | XIAPAF1 |
| MIM | 606717 OMIM |
| HGNC | HGNC:30932 HGNC |
| Ensembl | ENSG00000132530 Ensembl |
| AllianceGenome | HGNC:30932 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000361842.8 | hg38 | chr17 | 6,756,046 | 6,775,647 | 19,602 |
| ENST00000346752.8 | hg38 | chr17 | 6,755,838 | 6,773,663 | 17,826 |
| ENST00000346752.8 | hg19 | chr17 | 6,659,157 | 6,676,982 | 17,826 |
| ENST00000361842.8 | hg19 | chr17 | 6,659,365 | 6,678,966 | 19,602 |
| Key | Value |
|---|---|
| strand | + |
| UniProt | TSG |
| start | 6,659,155 |
| Gene Symbol | XAF1 |
| Entrez GeneId | 54,739 |
| Chr Band | 17p13.1 |
| end | 6,678,963 |
| chr | chr17 |
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