Information on IRF9
Basic details
Alt. symbols: ISGF3G
Approved name: interferon regulatory factor 9
Alt. names: interferon-stimulated transcription factor 3, gamma (48kD), interferon-stimulated transcription factor 3, gamma 48kDa
Location: 14q12: 24161234 - 24168043 (+)
Gene type: protein_coding, 70 transcripts.
Scores: LoFtool: 0.147000 | pLI: 0.63196560 | LOEUF: 0.450
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 |
|---|---|---|---|---|---|
IMD65 |
Immunodeficiency 65 | AR |
618648 |
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 IRF9
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 207 | ENST00000560275.6 | protein_coding | No | 841 | NM_001385401 | ||||
| 202 | ENST00000396864.8 | CCDS9615 | Select | protein_coding | 9 | Yes | 1626 | NM_006084 | |
| 216 | ENST00000698995.1 | protein_coding | No | NM_001385400 | |||||
| 264 | ENST00000699178.1 | protein_coding | No | NM_001385402 |
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 IRF9
| ID | Year | Title | Journal | PMID | Variants |
|---|