CA10

carbonic anhydrase 10, the group of Carbonic anhydrases

Basic information

Region (hg38): 17:51630313-52160017

Links

ENSG00000154975NCBI:56934OMIM:604642HGNC:1369Uniprot:Q9NS85AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CA10 gene.

  • not_specified (31 variants)
  • not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CA10 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000020178.5. 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
0
missense
32
clinvar
32
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 32 0 0
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
CA10protein_codingprotein_codingENST00000451037 9529704
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.5670.432125720061257260.0000239
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.111441870.7710.000009872170
Missense in Polyphen4571.4220.63006790
Synonymous0.1216566.30.9810.00000346598
Loss of Function3.30419.90.2010.00000109207

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0001200.000120
Ashkenazi Jewish0.00009940.0000992
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.00001760.0000176
Middle Eastern0.000.00
South Asian0.000.00
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: Does not have a catalytic activity.;

Recessive Scores

pRec
0.0976

Intolerance Scores

loftool
0.454
rvis_EVS
-0.58
rvis_percentile_EVS
18.44

Haploinsufficiency Scores

pHI
0.408
hipred
Y
hipred_score
0.685
ghis
0.611

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.167

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Car10
Phenotype

Zebrafish Information Network

Gene name
ca10b
Affected structure
post-vent region
Phenotype tag
abnormal
Phenotype quality
apoptotic

Gene ontology

Biological process
brain development
Cellular component
cellular_component
Molecular function
molecular_function;carbonate dehydratase activity;zinc ion binding