Information on TNFRSF9
Basic details
Alt. symbols: ILA | CD137 | 4-1BB
Approved name: TNF receptor superfamily member 9
Alt. names: tumor necrosis factor receptor superfamily, member 9
Location: 1p36.23: 7915871 - 7943165 (-)
Gene type: protein_coding, 4 transcripts.
Scores: LoFtool: 0.334000 | pLI: 0.25305050 | LOEUF: 0.606
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 |
|---|---|---|---|---|---|
IMD109 |
Immunodeficiency 109 with lymphoproliferation | AR |
Loss of Function | 620282 |
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 TNFRSF9
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 201 | ENST00000377507.8 | CCDS92 | Select | protein_coding | 8 | Yes | 5872 | NM_001561 |
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 TNFRSF9
| ID | Year | Title | Journal | PMID | Variants |
|---|