IRF2BP2 interferon regulatory factor 2 binding protein 2
Information
- Symbol
- IRF2BP2
- Type
- protein-coding
- Description
- interferon regulatory factor 2 binding protein 2
- Entrez Gene ID
- 359948
- Genome
- hg19
- Position
- chr1:234,740,015-234,745,924
- Genome
- hg38
- Position
- chr1:234,604,269-234,610,178
- MIM
- 615332 OMIM
- HGNC
- HGNC:21729 HGNC
- Ensembl
- ENSG00000168264 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 4 |
Likely pathogenic | 0 | 6 |
Benign | 0 | 46 |
Likely benign | 0 | 444 |
not provided | 1 | 0 |
Uncertain significance | 0 | 634 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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116 |
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1,006 |
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8 |
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 |
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 | |||
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Entry | Origin | Type | Annotation |
Type | ID |
---|---|
SYNONYM | CVID14 |
MIM | 615332 OMIM |
HGNC | HGNC:21729 HGNC |
Ensembl | ENSG00000168264 Ensembl |
AllianceGenome | HGNC:21729 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000366609.4 | hg38 | chr1 | 234,604,269 | 234,610,178 | 5,910 |
ENST00000366610.7 | hg38 | chr1 | 234,604,269 | 234,609,525 | 5,257 |
ENST00000366610.7 | hg19 | chr1 | 234,740,015 | 234,745,271 | 5,257 |
ENST00000366609.4 | hg19 | chr1 | 234,740,015 | 234,745,924 | 5,910 |
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