CA13

carbonic anhydrase 13, the group of Carbonic anhydrases

Basic information

Region (hg38): 8:85220587-85284073

Links

ENSG00000185015 ∙ NCBI:377677 ∙ OMIM:611436 ∙ HGNC:14914 ∙ Uniprot:Q8N1Q1 ∙ 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 CA13 gene.

• not_specified (29 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CA13 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000198584.3. 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					1	1
missense			27	2		29
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	27	2	1

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CA13	protein_coding	protein_coding	ENST00000321764	7	63487

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000176	0.681	125701	0	47	125748	0.000187

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.197	139	146	0.954	0.00000758	1712
Missense in Polyphen		63	59.918	1.0514		712
Synonymous	0.424	48	51.9	0.925	0.00000267	500
Loss of Function	1.09	11	15.7	0.703	8.17e-7	163

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000601	0.000601
Ashkenazi Jewish	0.000198	0.000198
East Asian	0.000598	0.000435
Finnish	0.0000463	0.0000462
European (Non-Finnish)	0.000106	0.000105
Middle Eastern	0.000598	0.000435
South Asian	0.000330	0.000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Reversible hydration of carbon dioxide.
• Pathway: Nitrogen metabolism - Homo sapiens (human);Metabolism;Reversible hydration of carbon dioxide (Consensus)

Recessive Scores

• pRec: 0.102

Intolerance Scores

• loftool: 0.656
• rvis_EVS: 0.64
• rvis_percentile_EVS: 83.78

Haploinsufficiency Scores

• pHI: 0.147
• hipred: N
• hipred_score: 0.219
• ghis: 0.395

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.873

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Car13

Gene ontology

• Biological process: bicarbonate transport
• Cellular component: cytosol;myelin sheath;intracellular membrane-bounded organelle
• Molecular function: carbonate dehydratase activity;zinc ion binding