Information on ITCH
Basic details
Alt. symbols: AIP4
Approved name: itchy E3 ubiquitin protein ligase
Alt. names: itchy (mouse homolog) E3 ubiquitin protein ligase, itchy E3 ubiquitin protein ligase homolog (mouse)
Location: 20q11.22: 34363235 - 34511773 (+)
Gene type: protein_coding, 19 transcripts.
Scores: LoFtool: 0.194000 | pLI: 0.99999018 | LOEUF: 0.218
Normal function
Dysfunction and disease
Autoimmune disease, multisystem, with facial dysmorphism [MIM:613385] [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
ADMFD |
Autoimmune disease, syndromic multisystem, with facial dysmorphism | AR |
613385 |
0 (0 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 ITCH
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 207 | ENST00000535650.8 | CCDS58769 | protein_coding | 24 | No | 2940 | NM_001257138 | ||
| 201 | ENST00000262650.11 | CCDS58768 | protein_coding | 26 | No | 3089 | NM_001257137,NM_001324197 | ||
| 202 | ENST00000374864.10 | 1 | CCDS13234 | Select | protein_coding | 25 | Yes | 6743 | NM_001324198,NM_031483 |
Published variants
Found 0 variants
| Var.name | Exon/Intron | cDNA_pos. | CDS_change | Prot.change | Var.type | Var.class. | Patients |
|---|
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. |
| - | 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 ITCH
| ID | Year | Title | Journal | PMID | Variants |
|---|