SPIB Spi-B transcription factor
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 6 |
Likely benign | 0 | 12 |
Uncertain significance | 0 | 18 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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36 |
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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 |
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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 |
---|---|
SYNONYM | SPI-B |
MIM | 606802 OMIM |
HGNC | HGNC:11242 HGNC |
Ensembl | ENSG00000269404 Ensembl |
AllianceGenome | HGNC:11242 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000270632.7 | hg38 | chr19 | 50,418,958 | 50,428,989 | 10,032 |
ENST00000595883.6 | hg38 | chr19 | 50,418,938 | 50,431,314 | 12,377 |
ENST00000596074.5 | hg38 | chr19 | 50,418,941 | 50,428,587 | 9,647 |
ENST00000439922.6 | hg38 | chr19 | 50,418,938 | 50,431,048 | 12,111 |
ENST00000597855.5 | hg38 | chr19 | 50,418,941 | 50,428,124 | 9,184 |
ENST00000439922.6 | hg19 | chr19 | 50,922,195 | 50,934,305 | 12,111 |
ENST00000595883.6 | hg19 | chr19 | 50,922,195 | 50,934,571 | 12,377 |
ENST00000597855.5 | hg19 | chr19 | 50,922,198 | 50,931,381 | 9,184 |
ENST00000596074.5 | hg19 | chr19 | 50,922,198 | 50,931,844 | 9,647 |
ENST00000270632.7 | hg19 | chr19 | 50,922,215 | 50,932,246 | 10,032 |
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