Information on IL7
Alt. symbols: IL-7
Approved name: interleukin 7
Alt. names: interleukin7
Location: 8q21.13: 78675743 - 78805523 (-)
Gene type: protein_coding, 10 transcripts.
Scores: LoFtool: 0.140000 | pLI: 0.87987374 | LOEUF: 0.360
Gene Ontology (GO)
- Molecular function: cytokine activity [GO:0005125]
- Cell component: extracellular region [GO:0005576]
- Biological process: cytokine-mediated signaling pathway [GO:0019221]
Normal function
Dysfunction and disease
{?Epidermodysplasia verruciformis, susceptibility to, 5} [MIM:618309] [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
IMD130 |
Immunodeficiency 130 with HPV-related verrucosis | AR |
618309 |
0 (0 fams) |
Please mind that curation (inclusion of all reported patients) of this gene has not started yet. Please contact us if you want to volunteer.
Transcripts of IL7
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 210 | ENST00000541183.2 | CCDS75756 | protein_coding | No | 2020 | NM_001199887 | |||
| 201 | ENST00000263851.9 | CCDS6224 | Select | protein_coding | Yes | 2016 | NM_000880 | ||
| 202 | ENST00000379113.6 | CCDS75755 | protein_coding | No | 1888 | NM_001199888 | |||
| 206 | ENST00000520269.5 | CCDS56541 | protein_coding | No | 456 | NM_001199886 |
Published variants
Found 0 variants
| Var.name ⓘ | Exon/Intron | cDNA_pos. | CDS_change | Prot.change | Var.type | Var.class. | Patients |
|---|
Please mind that curation (inclusion of all reported gene variants) 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 IL7
Please mind that curation (inclusion of all relevant literature) has not started yet. Please contact us if you want to volunteer.
| ID | Year | Title | Journal | PMID | Variants |
|---|