Information on IRAK1
Basic details
Alt. symbols: IRAK | pelle
Approved name: interleukin 1 receptor associated kinase 1
Alt. names: interleukin1 receptorassociated kinase 1 | IRAK1 | Pelle homolog
Location: Xq28: 154010506 - 154019902 (-)
Gene type: protein_coding, 14 transcripts.
Scores: LoFtool: 0.242000 | pLI: 0.99430192 | LOEUF: 0.285
Normal function
Dysfunction and disease
[Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
IRAK1D |
IRAK1 deficiency | XL |
- | 1 (1 fams) |
Please mind that full curation (inclusion of all published patients) of this gene has not started yet. Please contact us if you want to volunteer.
Transcripts of IRAK1
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 202 | ENST00000369974.6 | CCDS35443 | protein_coding | 13 | No | 3319 | NM_001025243 | ||
| 203 | ENST00000369980.8 | CCDS14740 | Select | protein_coding | 14 | Yes | 3581 | NM_001569 | |
| 204 | ENST00000393687.6 | CCDS35444 | protein_coding | 14 | No | 2049 | NM_001025242 | ||
| 205 | ENST00000429936.6 | protein_coding | 13 | No | 2127 | NM_001410701 |
Published variants
Found 1 variants
| Var.name | Exon/Intron | cDNA_pos. | CDS_change | Prot.change | Var.type | Var.class. | Patients |
|---|---|---|---|---|---|---|---|
| 101Kb-(WholeGene)-DEL |
EX1-14 | 1-3581 | c.1_2139del | p.? | transcript_ablation | Pathogenic | 0 |
Please mind that full curation (inclusion of all published variants) of this gene has not started yet. Please contact us if you want to volunteer.
Diagnostic pitfalls & paradigms
Considerations to take into account when analyzing this gene
| Year | Paradigm ⓘ | PMID | Notes |
|---|---|---|---|
| - | Regions of Homology | - | |
| - | Cryptic splicing | - | Unreported or not recorded in our DB. |
| - | Uniparental disomy | - | Unreported or not recorded in our DB. |
| - | Mosaicism | - | Unreported or not recorded in our DB. |
| - | Skewed X-linked inactivation | - | Unreported or not recorded in our DB. |
| - | Incomplete penetrance | - | Unreported or not recorded in our DB. |
| - | Di-/oligo-genic inheritance | - | Unreported or not recorded in our DB. |
| - | Somatic reversion | - | Unreported or not recorded in our DB. |
References linked to variants in IRAK1
| ID | Year | Title | Journal | PMID | Variants |
|---|---|---|---|---|---|
| 1002 |
2017 | Inherited human IRAK-1 deficiency selectively impairs TLR si... | PNAS | 28069966 |
1 |