ANXA6

annexin A6, the group of Annexins

Basic information

Region (hg38): 5:151100705-151157815

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.

• Inborn genetic diseases (33 variants)
• not provided (10 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.

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				6		6
missense			33	1		34
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1	1	2
non coding					1	1
Total	0	0	33	7	1

Variants in ANXA6

This is a list of pathogenic ClinVar variants found in the ANXA6 region.

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

Position	Type	Phenotype	Significance	ClinVar
5-151103590-A-G		not specified	Uncertain significance (Apr 17, 2023)
5-151103620-G-A			Uncertain significance (Sep 06, 2023)
5-151103644-T-C		not specified	Uncertain significance (Apr 13, 2022)
5-151103671-T-C		not specified	Uncertain significance (Feb 27, 2024)
5-151103696-G-C			Benign (Aug 10, 2018)
5-151105265-T-G		not specified	Uncertain significance (Oct 14, 2023)
5-151108504-G-A			Likely benign (Jul 01, 2022)
5-151108518-C-T		not specified	Uncertain significance (Feb 14, 2023)
5-151109767-G-A		not specified	Uncertain significance (Jul 26, 2022)
5-151109776-C-T		not specified	Uncertain significance (May 15, 2023)
5-151109801-G-A		not specified	Uncertain significance (Oct 03, 2022)
5-151109844-T-G		not specified	Uncertain significance (Jun 10, 2022)
5-151110636-A-C			Likely benign (Jul 20, 2018)
5-151117141-G-A		not specified	Uncertain significance (Jun 24, 2022)
5-151117165-C-T		not specified	Uncertain significance (Jan 23, 2023)
5-151117173-C-T		not specified	Uncertain significance (Aug 22, 2023)
5-151117174-G-A		not specified	Uncertain significance (Jul 13, 2022)
5-151117179-C-T		not specified	Uncertain significance (Aug 19, 2023)
5-151117834-T-C			Likely benign (Apr 04, 2018)
5-151119308-T-C		not specified	Uncertain significance (Nov 20, 2023)
5-151119324-C-T		not specified	Uncertain significance (Mar 29, 2023)
5-151119327-G-A		not specified	Uncertain significance (Jan 09, 2024)
5-151119348-T-A		not specified	Uncertain significance (Jan 18, 2022)
5-151119368-G-A		not specified	Uncertain significance (Mar 21, 2023)
5-151122177-G-A			Likely benign (Feb 01, 2023)

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
1.08e-8	0.999	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

Haploinsufficiency Scores

• pHI: 0.0941
• hipred: Y
• hipred_score: 0.706
• ghis: 0.572

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

Mouse Genome Informatics

• Gene name: Anxa6
• Phenotype: vision/eye phenotype; limbs/digits/tail phenotype; skeleton phenotype; immune system phenotype; growth/size/body region phenotype; hematopoietic system phenotype; 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); integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); muscle phenotype; homeostasis/metabolism phenotype

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