UTP14C

UTP14C small subunit processome component, the group of SSU processome

Basic information

Region (hg38): 13:52024691-52033600

Previous symbols: [ "KIAA0266" ]

Links

ENSG00000253797NCBI:9724OMIM:608969HGNC:20321Uniprot:Q5TAP6AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the UTP14C gene.

  • not_specified (85 variants)
  • ALG11-congenital_disorder_of_glycosylation (20 variants)
  • not_provided (11 variants)
  • Inborn_genetic_diseases (3 variants)
  • Congenital_disorder_of_glycosylation (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the UTP14C gene is commonly pathogenic or not. These statistics are base on transcript: NM_000021645.6. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
2
clinvar
2
clinvar
4
missense
93
clinvar
3
clinvar
96
nonsense
1
clinvar
1
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 96 5 0

Highest pathogenic variant AF is 0.0000102609

Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
UTP14Cprotein_codingprotein_codingENST00000521776 18910
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.005350.99412554712001257480.000800
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.4723983721.070.00001975049
Missense in Polyphen10499.5411.04481532
Synonymous0.6011361450.9370.000007821476
Loss of Function2.88822.90.3500.00000118321

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0005140.000514
Ashkenazi Jewish0.005760.00567
East Asian0.0007620.000761
Finnish0.00004620.0000462
European (Non-Finnish)0.0004220.000422
Middle Eastern0.0007620.000761
South Asian0.003530.00213
Other0.0008160.000815

dbNSFP

Source: dbNSFP

Function
FUNCTION: Essential for spermatogenesis. May be required specifically for ribosome biogenesis and hence protein synthesis during male meiosis (By similarity). {ECO:0000250, ECO:0000269|PubMed:15289605}.;
Pathway
Ribosome biogenesis in eukaryotes - Homo sapiens (human);rRNA processing;Metabolism of RNA;rRNA modification in the nucleus and cytosol;rRNA processing in the nucleus and cytosol (Consensus)

Intolerance Scores

loftool
rvis_EVS
0.11
rvis_percentile_EVS
62.1

Haploinsufficiency Scores

pHI
hipred
N
hipred_score
0.158
ghis
0.486

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.247

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Utp14b
Phenotype
reproductive system phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); endocrine/exocrine gland phenotype; homeostasis/metabolism phenotype;

Gene ontology

Biological process
rRNA processing;multicellular organism development;spermatogenesis;cell differentiation;meiotic cell cycle
Cellular component
nucleolus;cytosol;small-subunit processome
Molecular function
protein binding