Information on POLR3F
Basic details
Alt. symbols: RPC39 | RPC6 | C34
Approved name: RNA polymerase III subunit F
Alt. names: polymerase (RNA) III (DNA directed) polypeptide F (39 kDa) | RNA polymerase III C39 subunit
Location: 20p11.23: 18466878 - 18484648 (+)
Gene type: protein_coding, 22 transcripts.
Scores: LoFtool: 0.427000 | pLI: 0.00386617 | LOEUF: 1.067
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 |
|---|---|---|---|---|---|
IMD101F |
Immunodeficiency 101F | AD |
619872 |
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 POLR3F
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 201 | ENST00000377603.5 | CCDS13135 | Select | protein_coding | 9 | Yes | 2156 | NM_006466 | |
| 203 | ENST00000462997.6 | processed_transcript | No | NM_001282526 | |||||
| 211 | ENST00000697649.1 | protein_coding | No | NM_001410821 | |||||
| 214 | ENST00000697652.1 | protein_coding | No | XM_047439837 |
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 POLR3F
| ID | Year | Title | Journal | PMID | Variants |
|---|