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

Transcripts

Transcript IDs starting with ENST are treated as Ensembl, all others as RefSeq. Showing 4 of 51.

Transcript ID	Protein ID	Coding exons	MANE Select	MANE Plus Clinical
ENST00000372919.8	ENSP00000362010.4	13	-	-
ENST00000372921.10	ENSP00000362012.4	12	yes	-
ENST00000394847.3	ENSP00000378317.3	4	-	-
ENST00000892948.1	ENSP00000563007.1	12	-	-

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ANXA7 gene.

• not_specified (69 variants)
• not_provided (4 variants)

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. These statistics are base on transcript: NM_000001156.5. 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				1		1
missense			65	2		67
nonsense						0
start loss						0
frameshift			1			1
splice donor/acceptor (+/-2bp)		1	5			6
Total	0	1	71	3	0

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
		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

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

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