SIGIRR single Ig and TIR domain containing
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 6 |
Likely benign | 0 | 4 |
Uncertain significance | 0 | 68 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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0 |
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78 |
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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 |
Search Word
Target data | : |
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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Search word | : | |
Filtering | : |
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 | IL-1R8 |
SYNONYM | TIR8 |
MIM | 605478 OMIM |
HGNC | HGNC:30575 HGNC |
Ensembl | ENSG00000185187 Ensembl |
AllianceGenome | HGNC:30575 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000530494.2 | hg38 | chr11 | 405,716 | 414,948 | 9,233 |
ENST00000531205.5 | hg38 | chr11 | 405,872 | 409,977 | 4,106 |
ENST00000528209.6 | hg38 | chr11 | 405,716 | 414,957 | 9,242 |
ENST00000714411.1 | hg38 | chr11 | 405,715 | 417,347 | 11,633 |
ENST00000714412.1 | hg38 | chr11 | 405,715 | 417,409 | 11,695 |
ENST00000714415.1 | hg38 | chr11 | 405,716 | 417,359 | 11,644 |
ENST00000714416.1 | hg38 | chr11 | 405,718 | 417,331 | 11,614 |
ENST00000714413.1 | hg38 | chr11 | 405,716 | 417,084 | 11,369 |
ENST00000714414.1 | hg38 | chr11 | 405,716 | 417,322 | 11,607 |
ENST00000431843.7 | hg38 | chr11 | 405,716 | 414,999 | 9,284 |
ENST00000397632.7 | hg38 | chr11 | 405,716 | 417,325 | 11,610 |
ENST00000332725.7 | hg38 | chr11 | 405,716 | 417,397 | 11,682 |
ENST00000528845.6 | hg38 | chr11 | 405,716 | 414,999 | 9,284 |
ENST00000528058.2 | hg38 | chr11 | 405,716 | 414,996 | 9,281 |
ENST00000714411.1 | hg19 | chr11 | 405,715 | 417,347 | 11,633 |
ENST00000714412.1 | hg19 | chr11 | 405,715 | 417,409 | 11,695 |
ENST00000332725.7 | hg19 | chr11 | 405,716 | 417,397 | 11,682 |
ENST00000397632.7 | hg19 | chr11 | 405,716 | 417,325 | 11,610 |
ENST00000528845.6 | hg19 | chr11 | 405,716 | 414,999 | 9,284 |
ENST00000431843.7 | hg19 | chr11 | 405,716 | 414,999 | 9,284 |
ENST00000528058.2 | hg19 | chr11 | 405,716 | 414,996 | 9,281 |
ENST00000528209.6 | hg19 | chr11 | 405,716 | 414,957 | 9,242 |
ENST00000530494.2 | hg19 | chr11 | 405,716 | 414,948 | 9,233 |
ENST00000531205.5 | hg19 | chr11 | 405,872 | 409,977 | 4,106 |
ENST00000714413.1 | hg19 | chr11 | 405,716 | 417,084 | 11,369 |
ENST00000714414.1 | hg19 | chr11 | 405,716 | 417,322 | 11,607 |
ENST00000714415.1 | hg19 | chr11 | 405,716 | 417,359 | 11,644 |
ENST00000714416.1 | hg19 | chr11 | 405,718 | 417,331 | 11,614 |
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