CTDP1 |
- 30
Haplo
Score - -5
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- CTDP1 (HGNC:2498) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- CTD phosphatase subunit 1
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- FCP1
- %HI
- 76.13(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.65(Read more about gnomAD LOEUF score)
- Cytoband
- 18q23
- Genomic Coordinates
-
GRCh37/hg19: chr18:77439803-77516625 NCBI Ensembl UCSC GRCh38/hg38: chr18:79676768-79756625 NCBI Ensembl UCSC - MANE Select Transcript
- NM_004715.5 ENST00000613122.5 (Read more about MANE Select)
- Function
- Processively dephosphorylates 'Ser-2' and 'Ser-5' of the heptad repeats YSPTSPS in the C-terminal domain of the largest RNA polymerase II subunit. This promotes the activity of RNA polymerase II. Plays a role in the exit from mitosis by dephosphorylating crucial mitotic substrates (USP44, CDC20 and WEE1) that are required for M- phase-promoting factor (MPF)/CDK1 inactivation. {ECO:0000269|PubMed:22692537}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-25445
ClinGen Curation ID:
CCID:006949
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
Not Yet Evaluated
Last Evaluated:
08/22/2016
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- congenital cataracts-facial dysmorphism-neuropathy syndrome Monarch
Triplosensitivity (TS) Score Details
TS Evidence Strength:
Not Yet Evaluated (Disclaimer)
Genomic View
Select assembly:
(NC_000018.9)
(NC_000018.10)