ANXA8L1

annexin A8 like 1, the group of Annexins

Basic information

Region (hg38): 10:46375627-46391784

Previous symbols: [ "ANXA8L2" ]

Links

ENSG00000264230

∙ NCBI:728113 ∙ ∙ HGNC:23334 ∙ Uniprot:Q5VT79 ∙ 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 ANXA8L1 gene.

not_specified (16 variants)
not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ANXA8L1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001098845.3. 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	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous					1 clinvar	1
missense			16 clinvar			16
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	16	0	1

Loading clinvar variants...

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

pHI: 0.530
hipred: N
hipred_score: 0.187
ghis: 0.399

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2
essential_gene_gene_trap: N
gene_indispensability_pred: N
gene_indispensability_score: 0.226

Mouse Genome Informatics

Gene name: Anxa8
Phenotype: cellular phenotype; hematopoietic system phenotype; immune system phenotype;

Gene ontology

Biological process: endosome organization;endosomal transport;negative regulation of serine-type endopeptidase activity;negative regulation of phospholipase A2 activity
Cellular component: cell
Molecular function: calcium ion binding;calcium-dependent phospholipid binding;phosphatidylinositol-4,5-bisphosphate binding;phosphatidylinositol-3,4,5-trisphosphate binding;phosphatidylinositol-3,4-bisphosphate binding;actin filament binding