ANXA10

protein-coding

annexin A10, the group of Annexins

Gene summary

This gene encodes a member of the annexin family. Members of this calcium-dependent phospholipid-binding protein family play a role in the regulation of cellular growth and in signal transduction pathways. The function of this gene has not yet been determined. [provided by RefSeq, Jul 2008]

MANE transcript

NM_007193.5

Inheritance

—

ClinVar variants

U:37B:4

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.87

Max pathogenic AF

—

Genomic locus

chr4:168,092,537-168,187,736

External References & Databases

Ensembl (ENSG00000109511)

Transcript & Mutation Effects

hg38 • Region Span ~95.2 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to ANXA10 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 35

not providedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_007193.5. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			35 clinvar	2 clinvar	2 clinvar	39
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	37	2	2	41

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 3 of 3 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_007193.5	RefSeq	NP_009124.2	12	MANE Select
ENST00000359299.8	Ensembl	ENSP00000352248.3	12	MANE Select
XM_011531571.3	RefSeq	XP_011529873.1	13	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Molecular Function

calcium ion binding
protein binding
calcium-dependent phospholipid binding

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000359299
Coding exons: 12
Length: 95176
Individuals with no LoFs: 125587
Homozygous LoFs: 0
Heterozygous LoFs: 161
Defined: 125748
p: 0.000640

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.398	160	175	0.915	0.00000836	2150
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00095	0.00092	rare
Latino/Admixed American	0.00084	0.00078	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.0015	0.0015	notable
Finnish	0	0.0	absent
European (Non-Finnish)	0.00052	0.00051	rare
South Asian	0.0010	0.0010	notable
Other	0.00033	0.00033	rare

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.0936

Intolerance Scores

LoFtool: 0.877
RVIS EVS: 0.82
RVIS percentile EVS: 87.95

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.0229

Gene Damage Prediction

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