Information on SP110
Alt. symbols: IFI41 | IFI75
Approved name: SP110 nuclear body protein
Alt. names: interferon-induced protein 41, 30kD
Location: 2q37.1: 230165186 - 230225729 (-)
Gene type: protein_coding, 21 transcripts.
Scores: LoFtool: 0.496000 | pLI: 0.00000000 | LOEUF: 0.945
Gene Ontology (GO)
- Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]
- Cell component: nucleus [GO:0005634]
- Biological process: regulation of transcription by RNA polymerase II [GO:0006357]
Normal function
Dysfunction and disease
{Mycobacterium tuberculosis, susceptibility to} [MIM:607948] | Hepatic venoocclusive disease with immunodeficiency [MIM:235550] [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
VODI |
Hepatic venoocclusive disease with immunodeficiency | AR |
235550 |
0 (0 fams) | |
| TBS3 |
Mycobacterium tuberculosis, susceptibility to, 3 | AD/AR |
607948 |
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 SP110
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 215 | ENST00000540870.5 | CCDS54435 | protein_coding | 16 | No | 2032 | NM_001185015 | ||
| 201 | ENST00000258381.11 | 1 | CCDS2475 | Select | protein_coding | 19 | Yes | 6192 | NM_001378444,NM_080424 |
| 202 | ENST00000258382.10 | CCDS2476 | protein_coding | 15 | No | 1952 | NM_001378447,NM_004510 | ||
| 203 | ENST00000358662.9 | CCDS2474 | protein_coding | 18 | No | 6120 | NM_001378442,NM_001378443,NM_001378445,NM_001378446,NM_004509 |
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 SP110
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 |
|---|