CA10

carbonic anhydrase 10, the group of Carbonic anhydrases

Basic information

Region (hg38): 17:51630313-52160017

Links

ENSG00000154975 ∙ NCBI:56934 ∙ OMIM:604642 ∙ HGNC:1369 ∙ Uniprot:Q9NS85 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			32			32
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	32	0	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CA10	protein_coding	protein_coding	ENST00000451037	9	529704

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.567	0.432	125720	0	6	125726	0.0000239

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.11	144	187	0.771	0.00000987	2170
Missense in Polyphen		45	71.422	0.63006		790
Synonymous	0.121	65	66.3	0.981	0.00000346	598
Loss of Function	3.30	4	19.9	0.201	0.00000109	207

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000120	0.000120
Ashkenazi Jewish	0.0000994	0.0000992
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000176	0.0000176
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

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

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Car10

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