POLR1D |
- 3
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- POLR1D (HGNC:20422) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- RNA polymerase I and III subunit D
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- RPAC2, RPA16, RPO1-3, RPA9, MGC9850, AC19
- %HI
- 31.76(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.36(Read more about gnomAD pLI score)
- LOEUF
- 1.01(Read more about gnomAD LOEUF score)
- Cytoband
- 13q12.2
- Genomic Coordinates
-
GRCh37/hg19: chr13:28194880-28241548 NCBI Ensembl UCSC GRCh38/hg38: chr13:27620743-27667411 NCBI Ensembl UCSC - MANE Select Transcript
- NM_015972.4 ENST00000302979.5 (Read more about MANE Select)
- Function
- DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Common component of RNA polymerases I and III which synthesize ribosomal RNA precursor pre-rRNA and short non-coding RNAs including 5S rRNA, snRNAs, tRNAs and miRNAs, respectively. {ECO:0000250|UniProtKB:P28000, ECO:0000269|PubMed:20413673, ECO:0000269|PubMed:35637192}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-1213
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Sufficient Evidence for Haploinsufficiency
(3)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
06/23/2021
Haploinsufficiency (HI) Score Details
HI Score:
3
HI Evidence Strength:
Sufficient Evidence for Haploinsufficiency
(Disclaimer)
HI Disease:
- Treacher Collins syndrome 2 Monarch
HI Evidence:
-
PUBMED:
21131976
Dauwerse et al. (2011) describe 17 mutations in POLR1D detected in 20 unrelated individuals with clinical diagnoses of Treacher-Collins syndrome and no mutations in TCOF1, including 10 different nonsense variants. This group also describes a 156 kb de novo deletion encompassing all of POLR1D and the first exon of LNX2. The variants segregated with disease in familial cases. Two families demonstrated reduced penetrance.
-
PUBMED:
25790162
Vincent et al. (2016) evaluated 146 patients with Treacher-Collins syndrome. They reported nine variants in POLR1D, including 7 molecular variants and 2 intragenic deletions. Variants were inherited from an asymptomatic parent in 4/9 cases. All mutations were heterozygous except one missense variant that was homozygous and inherited in a recessive manner. Based on the 19 clinical features compared, POLR1D may account for somewhat more mild phenotype but additional studies are needed.
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000013.10)
(NC_000013.11)