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.

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.

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					1	1
missense			9			9
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	9	0	1

Variants in ANXA8L1

This is a list of pathogenic ClinVar variants found in the ANXA8L1 region.

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

Position	Type	Phenotype	Significance	ClinVar
10-46381163-A-G		not specified	Uncertain significance (Apr 05, 2023)
10-46381211-G-A		not specified	Uncertain significance (Jul 13, 2022)
10-46382651-C-T		not specified	Uncertain significance (Nov 18, 2022)
10-46383496-C-T		not specified	Uncertain significance (Feb 28, 2023)
10-46383509-G-T		not specified	Uncertain significance (Aug 21, 2023)
10-46384828-G-A		not specified	Uncertain significance (Jan 27, 2022)
10-46385447-C-T		not specified	Uncertain significance (Jun 18, 2021)
10-46390890-A-T		not specified	Uncertain significance (Nov 15, 2021)
10-46390897-C-T			Benign (Oct 01, 2023)
10-46390898-G-A		not specified	Uncertain significance (Jun 16, 2023)

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_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