ANXA9

annexin A9, the group of Annexins

Basic information

Region (hg38): 1:150982249-150995634

Previous symbols: [ "ANX31" ]

Links

ENSG00000143412 ∙ NCBI:8416 ∙ OMIM:603319 ∙ HGNC:547 ∙ Uniprot:O76027 ∙ 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 ANXA9 gene.

• not_specified (51 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ANXA9 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000003568.3. 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						0
missense			47	4		51
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	47	4	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ANXA9	protein_coding	protein_coding	ENST00000368947	12	13618

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.98e-17	0.00473	125601	0	147	125748	0.000585

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.344	181	195	0.931	0.0000108	2219
Missense in Polyphen		52	61.879	0.84035		748
Synonymous	0.466	75	80.3	0.934	0.00000453	706
Loss of Function	-0.121	25	24.4	1.03	0.00000143	233

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00159	0.00159
Ashkenazi Jewish	0.00	0.00
East Asian	0.000771	0.000707
Finnish	0.000740	0.000739
European (Non-Finnish)	0.000433	0.000431
Middle Eastern	0.000771	0.000707
South Asian	0.000786	0.000784
Other	0.000984	0.000978

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Low affinity receptor for acetylcholine known to be targeted by disease-causing pemphigus vulgaris antibodies in keratinocytes. {ECO:0000269|PubMed:10899159}.

Recessive Scores

• pRec: 0.0977

Intolerance Scores

• loftool: 0.942
• rvis_EVS: 0.53
• rvis_percentile_EVS: 80.88

Haploinsufficiency Scores

• pHI: 0.138
• hipred: N
• hipred_score: 0.144
• ghis: 0.407

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.770

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Anxa9
• Phenotype: hematopoietic system phenotype; immune system phenotype; skeleton phenotype

Gene ontology

• Biological process: cell-cell adhesion
• Cellular component: cytosol;cell surface
• Molecular function: phosphatidylserine binding;calcium ion binding;protein binding;phospholipid binding;calcium-dependent phospholipid binding;acetylcholine receptor activity;protein homodimerization activity