Information on RFXAP
Basic details
Alt. symbols:
Approved name: regulatory factor X associated protein
Alt. names: regulatory factor X-associated protein
Location: 13q13.3: 36819222 - 36829104 (+)
Gene type: protein_coding, 2 transcripts.
Scores: LoFtool: | pLI: 0.43979164 | LOEUF: 0.978
Normal function
Dysfunction and disease
Bare lymphocyte syndrome, type II, complementation group D [MIM:209920] [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
BLS2D |
Bare lymphocyte syndrome type 2D | AR |
620817 |
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 RFXAP
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 201 | ENST00000255476.3 | 1 | CCDS9359 | Select | protein_coding | 3 | Yes | 2306 | NM_000538 |
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 RFXAP
| ID | Year | Title | Journal | PMID | Variants |
|---|