Information on IL18BP
Basic details
Alt. symbols: IL18BPa
Approved name: interleukin 18 binding protein
Alt. names: MC51L-53L-54L homolog gene product
Location: 11q13.4: 71998613 - 72007315 (+)
Gene type: protein_coding, 18 transcripts.
Scores: LoFtool: 0.645000 | pLI: 0.00000333 | LOEUF: 1.819
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 |
|---|---|---|---|---|---|
FVH |
Hepatitis, fulminant viral, suspectibility to | AR |
618549 |
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 IL18BP
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 202 | ENST00000337131.9 | CCDS8206 | protein_coding | 8 | No | 1606 | XM_017017059 | ||
| 204 | ENST00000393703.9 | CCDS8206 | Select | protein_coding | 6 | Yes | 1697 | NM_001039660 | |
| 206 | ENST00000393707.4 | CCDS44666 | protein_coding | 3 | No | 1037 | NM_001145055 | ||
| 209 | ENST00000497194.6 | CCDS8207 | protein_coding | 4 | No | 4080 | NM_005699 | ||
| 214 | ENST00000620017.4 | protein_coding | 6 | No | 1566 | NM_173044 | |||
| 207 | ENST00000404792.5 | CCDS8206 | protein_coding | 5 | No | 2172 | NM_001145057,NM_173042 | ||
| 205 | ENST00000393705.8 | CCDS8206 | protein_coding | 7 | No | 1549 | NM_001039659 |
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 IL18BP
| ID | Year | Title | Journal | PMID | Variants |
|---|