ANXA13

annexin A13, the group of Annexins

Basic information

Region (hg38): 8:123680794-123737402

Previous symbols: [ "ANX13" ]

Links

ENSG00000104537 ∙ NCBI:312 ∙ OMIM:602573 ∙ HGNC:536 ∙ Uniprot:P27216 ∙ 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 ANXA13 gene.

• not_specified (60 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ANXA13 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000004306.4. 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			46	2		48
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	46	2	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ANXA13	protein_coding	protein_coding	ENST00000262219	12	56614

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.24e-10	0.563	125662	0	86	125748	0.000342

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.431	231	213	1.08	0.0000126	2320
Missense in Polyphen		53	52.767	1.0044		674
Synonymous	-0.826	98	88.1	1.11	0.00000581	672
Loss of Function	1.26	18	24.8	0.727	0.00000131	280

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000490	0.000490
Ashkenazi Jewish	0.000306	0.000298
East Asian	0.000218	0.000217
Finnish	0.00	0.00
European (Non-Finnish)	0.000485	0.000484
Middle Eastern	0.000218	0.000217
South Asian	0.000393	0.000392
Other	0.000326	0.000326

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.128

Intolerance Scores

• loftool: 0.939
• rvis_EVS: 0.49
• rvis_percentile_EVS: 79.52

Haploinsufficiency Scores

• pHI: 0.182
• hipred: N
• hipred_score: 0.353

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0802

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Anxa13

Gene ontology

• Biological process: cell differentiation;positive regulation of Golgi to plasma membrane protein transport
• Cellular component: extracellular space;nucleoplasm;plasma membrane;extracellular exosome
• Molecular function: phosphatidylserine binding;calcium ion binding;calcium-dependent phospholipid binding;phosphatidylglycerol binding