IRAK4 interleukin 1 receptor associated kinase 4
Information
- Symbol
- IRAK4
- Type
- protein-coding
- Description
- interleukin 1 receptor associated kinase 4
- Entrez Gene ID
- 51135
- Genome
- hg19
- Position
- chr12:44,152,754-44,183,344
- Genome
- hg38
- Position
- chr12:43,758,951-43,789,541
- MIM
- 606883 OMIM
- HGNC
- HGNC:17967 HGNC
- Ensembl
- ENSG00000198001 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 4 | 50 |
| Likely pathogenic | 0 | 10 |
| Benign | 0 | 92 |
| Likely benign | 0 | 150 |
| Conflicting classifications of pathogenicity | 0 | 14 |
| Uncertain significance | 0 | 298 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
54 |
 |
530 |
 |
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 | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | Entry | Origin | Annotation | |||||||||||
Search Word
| Target data | : |
MGeND data only
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| Filtering | : |
| Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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 | IMD67 |
| SYNONYM | IPD1 |
| SYNONYM | IRAK-4 |
| SYNONYM | NY-REN-64 |
| SYNONYM | REN64 |
| MIM | 606883 OMIM |
| HGNC | HGNC:17967 HGNC |
| Ensembl | ENSG00000198001 Ensembl |
| AllianceGenome | HGNC:17967 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000613694.5 | hg38 | chr12 | 43,758,951 | 43,789,541 | 30,591 |
| ENST00000440781.6 | hg38 | chr12 | 43,758,944 | 43,786,975 | 28,032 |
| ENST00000551736.5 | hg38 | chr12 | 43,758,961 | 43,786,903 | 27,943 |
| ENST00000440781.6 | hg19 | chr12 | 44,152,747 | 44,180,778 | 28,032 |
| ENST00000551736.5 | hg19 | chr12 | 44,152,764 | 44,180,706 | 27,943 |
| ENST00000613694.5 | hg19 | chr12 | 44,152,754 | 44,183,344 | 30,591 |
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