ANXA7

annexin A7, the group of Annexins

Basic information

Region (hg38): 10:73375101-73414076

Previous symbols: [ "ANX7" ]

Links

ENSG00000138279 ∙ NCBI:310 ∙ OMIM:186360 ∙ HGNC:545 ∙ Uniprot:P20073 ∙ 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 ANXA7 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ANXA7 gene is commonly pathogenic or not.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1		1
missense			26	2		28
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)		1				1
splice region						0
non coding						0
Total	0	1	26	3	0

Variants in ANXA7

This is a list of pathogenic ClinVar variants found in the ANXA7 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
10-73376133-C-G			Likely benign (Jun 19, 2018)
10-73376157-T-C		not specified	Uncertain significance (Jun 06, 2022)
10-73376160-T-A		not specified	Uncertain significance (Oct 30, 2023)
10-73376187-C-T		not specified	Likely benign (Jan 31, 2024)
10-73378934-G-A		not specified	Uncertain significance (Apr 25, 2023)
10-73379005-C-T		not specified	Uncertain significance (Dec 06, 2021)
10-73379896-C-T		not specified	Uncertain significance (Jun 26, 2023)
10-73379921-G-A		not specified	Uncertain significance (Jan 18, 2023)
10-73379944-C-T		not specified	Uncertain significance (Aug 13, 2021)
10-73379945-G-C		not specified	Uncertain significance (May 18, 2023)
10-73380030-C-A			Likely pathogenic (Mar 29, 2024)
10-73380033-T-C		not specified	Uncertain significance (Jun 14, 2022)
10-73380065-G-A			Uncertain significance (-)
10-73380109-G-A			Likely benign (Jun 19, 2018)
10-73383182-A-G		not specified	Uncertain significance (May 07, 2024)
10-73383224-C-T		not specified	Uncertain significance (Mar 06, 2023)
10-73383279-C-T		not specified	Uncertain significance (Dec 20, 2023)
10-73383326-C-T		not specified	Uncertain significance (Sep 14, 2022)
10-73383327-G-A		not specified	Uncertain significance (Jan 31, 2022)
10-73383328-T-A		not specified	Uncertain significance (Oct 29, 2021)
10-73383596-C-T		not specified	Uncertain significance (Feb 26, 2024)
10-73383652-A-C		not specified	Uncertain significance (Jun 10, 2022)
10-73387766-T-C		not specified	Uncertain significance (May 23, 2024)
10-73388322-C-T		not specified	Uncertain significance (May 24, 2023)
10-73388354-T-C		not specified	Uncertain significance (May 26, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ANXA7	protein_coding	protein_coding	ENST00000372919	13	38976

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
8.58e-10	0.900	125687	0	60	125747	0.000239

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.402	256	275	0.932	0.0000145	3131
Missense in Polyphen		93	92.893	1.0012		1092
Synonymous	-0.0471	89	88.4	1.01	0.00000442	976
Loss of Function	1.83	19	29.8	0.638	0.00000166	335

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000821	0.000818
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.0000463	0.0000462
European (Non-Finnish)	0.000270	0.000264
Middle Eastern	0.000109	0.000109
South Asian	0.000230	0.000229
Other	0.000164	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Calcium/phospholipid-binding protein which promotes membrane fusion and is involved in exocytosis.

Recessive Scores

• pRec: 0.327

Intolerance Scores

• loftool: 0.968
• rvis_EVS: -0.16
• rvis_percentile_EVS: 42.16

Haploinsufficiency Scores

• pHI: 0.165
• hipred: N
• hipred_score: 0.493
• ghis: 0.567

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.147

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Anxa7
• Phenotype: growth/size/body region phenotype; endocrine/exocrine gland phenotype; cellular phenotype; homeostasis/metabolism phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); hematopoietic system phenotype; neoplasm; liver/biliary system phenotype; immune system phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan)

Gene ontology

• Biological process: cellular calcium ion homeostasis;autophagy;hemostasis;cell population proliferation;regulation of cell shape;response to salt stress;cellular water homeostasis;negative regulation of gene expression;response to organic cyclic compound;epithelial cell differentiation;social behavior;response to calcium ion;membrane fusion
• Cellular component: nucleus;nuclear envelope;endoplasmic reticulum membrane;cytosol;plasma membrane;membrane;chromaffin granule membrane;extracellular exosome
• Molecular function: RNA binding;integrin binding;calcium ion binding;protein binding;calcium-dependent phospholipid binding;identical protein binding;calcium-dependent protein binding