SPI1 Spi-1 proto-oncogene
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 10 |
Likely pathogenic | 0 | 8 |
Benign | 0 | 10 |
Likely benign | 0 | 4 |
not provided | 10 | 0 |
Uncertain significance | 0 | 24 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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52 |
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4 |
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
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 |
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 |
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SYNONYM | AGM10 |
SYNONYM | OF |
SYNONYM | PU.1 |
SYNONYM | SFPI1 |
SYNONYM | SPI-1 |
SYNONYM | SPI-A |
MIM | 165170 OMIM |
HGNC | HGNC:11241 HGNC |
Ensembl | ENSG00000066336 Ensembl |
AllianceGenome | HGNC:11241 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000533030.1 | hg38 | chr11 | 47,355,101 | 47,378,523 | 23,423 |
ENST00000713542.1 | hg38 | chr11 | 47,354,860 | 47,378,547 | 23,688 |
ENST00000713543.1 | hg38 | chr11 | 47,354,860 | 47,409,369 | 54,510 |
ENST00000533968.1 | hg38 | chr11 | 47,358,181 | 47,378,487 | 20,307 |
ENST00000227163.8 | hg38 | chr11 | 47,354,913 | 47,378,391 | 23,479 |
ENST00000378538.8 | hg38 | chr11 | 47,354,860 | 47,378,547 | 23,688 |
ENST00000713542.1 | hg19 | chr11 | 47,376,411 | 47,400,098 | 23,688 |
ENST00000378538.8 | hg19 | chr11 | 47,376,411 | 47,400,098 | 23,688 |
ENST00000713543.1 | hg19 | chr11 | 47,376,411 | 47,430,920 | 54,510 |
ENST00000227163.8 | hg19 | chr11 | 47,376,464 | 47,399,942 | 23,479 |
ENST00000533030.1 | hg19 | chr11 | 47,376,652 | 47,400,074 | 23,423 |
ENST00000533968.1 | hg19 | chr11 | 47,379,732 | 47,400,038 | 20,307 |
Key | Value |
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strand | - |
UniProt | OG |
start | 47,376,408 |
Gene Symbol | SPI1 |
Entrez GeneId | 6,688 |
Chr Band | 11p11.2 |
end | 47,400,126 |
chr | chr11 |
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