ANXA10

annexin A10, the group of Annexins

Basic information

Region (hg38): 4:168092537-168187736

Links

ENSG00000109511 ∙ NCBI:11199 ∙ OMIM:608008 ∙ HGNC:534 ∙ Uniprot:Q9UJ72 ∙ 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 ANXA10 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 ANXA10 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000007193.5. 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			29	2	2	33
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	29	2	2

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ANXA10	protein_coding	protein_coding	ENST00000359299	12	95176

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
9.55e-14	0.0748	125587	0	161	125748	0.000640

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.398	160	175	0.915	0.00000836	2150
Missense in Polyphen		57	66.904	0.85197		873
Synonymous	0.310	55	58.0	0.948	0.00000274	551
Loss of Function	0.613	22	25.3	0.869	0.00000159	256

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00179	0.00177
Ashkenazi Jewish	0.00	0.00
East Asian	0.00153	0.00152
Finnish	0.00	0.00
European (Non-Finnish)	0.000516	0.000510
Middle Eastern	0.00153	0.00152
South Asian	0.00102	0.00101
Other	0.000326	0.000326

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0936

Intolerance Scores

• loftool: 0.877
• rvis_EVS: 0.82
• rvis_percentile_EVS: 87.95

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.251

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0229

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Anxa10
• Phenotype: cellular phenotype

Gene ontology

• Molecular function: calcium ion binding;protein binding;calcium-dependent phospholipid binding