ANXA6

annexin A6, the group of Annexins

Basic information

Region (hg38): 5:151100706-151157815

Previous symbols: [ "ANX6" ]

Links

ENSG00000197043 ∙ NCBI:309 ∙ OMIM:114070 ∙ HGNC:544 ∙ Uniprot:P08133 ∙ 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 ANXA6 gene.

• not_specified (115 variants)
• not_provided (11 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ANXA6 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000001155.5. 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			6	6		12
missense			120	3		123
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			12			12
Total	0	0	138	9	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ANXA6	protein_coding	protein_coding	ENST00000354546	25	57171

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
		125458	0	39	125497	0.000155

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.636	368	404	0.911	0.0000242	4422
Missense in Polyphen		139	164.96	0.84262		1783
Synonymous	1.29	128	148	0.865	0.00000869	1238
Loss of Function	3.01	20	40.7	0.491	0.00000186	501

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000538	0.000520
Ashkenazi Jewish	0.00	0.00
East Asian	0.000230	0.000218
Finnish	0.00	0.00
European (Non-Finnish)	0.000109	0.000106
Middle Eastern	0.000230	0.000218
South Asian	0.000366	0.000359
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May associate with CD21. May regulate the release of Ca(2+) from intracellular stores.
• Pathway: Calcium Regulation in the Cardiac Cell;Prostaglandin Synthesis and Regulation;Smooth Muscle Contraction;Muscle contraction (Consensus)

Recessive Scores

• pRec: 0.209

Intolerance Scores

• loftool: 0.992
• rvis_EVS: -1.13
• rvis_percentile_EVS: 6.51

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.746

Gene Damage Prediction

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

Zebrafish Information Network

• Gene name: anxa6
• Affected structure: muscle cell
• Phenotype tag: abnormal
• Phenotype quality: damaged

Gene ontology

• Biological process: neural crest cell migration;plasma membrane repair;growth plate cartilage chondrocyte differentiation;regulation of muscle contraction;biomineral tissue development;ion transmembrane transport;protein homooligomerization;negative regulation of sequestering of calcium ion;mitochondrial calcium ion homeostasis;calcium ion import;calcium ion transmembrane transport;apoptotic signaling pathway
• Cellular component: mitochondrion;lysosomal membrane;focal adhesion;membrane;late endosome membrane;melanosome;perinuclear region of cytoplasm;collagen-containing extracellular matrix;extracellular exosome
• Molecular function: phosphatidylserine binding;calcium channel activity;calcium ion binding;protein binding;GTP binding;calcium-dependent phospholipid binding;heparin binding;lipid binding;ligand-gated ion channel activity;cholesterol binding;enzyme binding;chondroitin sulfate binding;signaling receptor activity;protein homodimerization activity;protein-containing complex binding;calcium-dependent protein binding;actin filament binding