IRF1 interferon regulatory factor 1
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 8 |
Benign | 0 | 28 |
Likely benign | 0 | 2 |
not provided | 6 | 0 |
Uncertain significance | 0 | 10 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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40 |
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8 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
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Disease area statistics
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Variants
Search Word
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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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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 | IMD117 |
SYNONYM | IRF-1 |
SYNONYM | MAR |
MIM | 147575 OMIM |
HGNC | HGNC:6116 HGNC |
Ensembl | ENSG00000125347 Ensembl |
AllianceGenome | HGNC:6116 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000245414.9 | hg38 | chr5 | 132,481,609 | 132,490,773 | 9,165 |
ENST00000680139.1 | hg38 | chr5 | 132,483,762 | 132,490,773 | 7,012 |
ENST00000680903.1 | hg38 | chr5 | 132,483,828 | 132,490,777 | 6,950 |
ENST00000405885.6 | hg38 | chr5 | 132,483,086 | 132,490,262 | 7,177 |
ENST00000245414.9 | hg19 | chr5 | 131,817,301 | 131,826,465 | 9,165 |
ENST00000405885.6 | hg19 | chr5 | 131,818,778 | 131,825,954 | 7,177 |
ENST00000680139.1 | hg19 | chr5 | 131,819,454 | 131,826,465 | 7,012 |
ENST00000680903.1 | hg19 | chr5 | 131,819,520 | 131,826,469 | 6,950 |
Key | Value |
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strand | - |
UniProt | TSG |
start | 131,817,300 |
Gene Symbol | IRF1 |
Entrez GeneId | 3,659 |
Chr Band | 5q31.1 |
end | 131,826,464 |
chr | chr5 |
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