Information on RFX5
Alt. symbols:
Approved name: regulatory factor X5
Alt. names: regulatory factor X, 5 (influences HLA class II expression)
Location: 1q21.3: 151340640 - 151347326 (-)
Gene type: protein_coding, 21 transcripts.
Scores: LoFtool: 0.506000 | pLI: 0.00013679 | LOEUF: 1.104
Gene Ontology (GO)
- Molecular function: RNA polymerase II cis-regulatory region sequence-specific DNA binding [GO:0000978]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]
- Cell component:
- Biological process: regulation of transcription by RNA polymerase II [GO:0006357]
Normal function
Dysfunction and disease
Bare lymphocyte syndrome, type II, complementation group E [MIM:209920] | Bare lymphocyte syndrome, type II, complementation group C [MIM:209920] [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
BLS2C |
Bare lymphocyte syndrome type 2C | AR |
620816 |
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 RFX5
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 215 | ENST00000452671.7 | CCDS994 | Select | protein_coding | 11 | Yes | 3570 | NM_001025603,NM_001379412,NM_001379417,NM_001379418,NM_001379419,NM_001379420 | |
| 201 | ENST00000290524.8 | 1 | CCDS994 | protein_coding | 11 | No | 3576 | NM_000449,NM_001379413,NM_001379414,NM_001379415,NM_001379416 | |
| 210 | ENST00000436637.5 | protein_coding | No | 765 | XM_024448791 |
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 RFX5
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 |
|---|