ANXA11
Basic information
Region (hg38): 10:80150889-80205572
Previous symbols: [ "ANX11" ]
Links
Phenotypes
GenCC
Source:
- amyotrophic lateral sclerosis type 23 (Strong), mode of inheritance: AD
- amyotrophic lateral sclerosis type 23 (Moderate), mode of inheritance: AD
- amyotrophic lateral sclerosis (Supportive), mode of inheritance: AD
- amyotrophic lateral sclerosis type 23 (Strong), mode of inheritance: AD
- inclusion body myopathy and brain white matter abnormalities (Limited), mode of inheritance: AD
- amyotrophic lateral sclerosis type 23 (Definitive), mode of inheritance: AD
Clinical Genomic Database
Source:
Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
---|---|---|---|---|---|
Amytrophic lateral sclerosis 23; Inclusion body myopathy and brain white matter abnormalities | AD | General | Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing | Musculoskeletal; Neurologic | 28469040; 34048612 |
ClinVar
This is a list of variants' phenotypes submitted to
- ANXA11-related disorder (1 variants)
- not provided (1 variants)
- Oculopharyngeal muscular dystrophy (1 variants)
- Amyotrophic lateral sclerosis type 23 (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the ANXA11 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 | 45 | 10 | 56 | |||
missense | 112 | 14 | 138 | |||
nonsense | 7 | |||||
start loss | 1 | |||||
frameshift | 7 | |||||
inframe indel | 5 | |||||
splice donor/acceptor (+/-2bp) | 4 | |||||
splice region | 8 | 9 | 3 | 20 | ||
non coding | 27 | 40 | 68 | |||
Total | 2 | 2 | 136 | 88 | 58 |
Variants in ANXA11
This is a list of pathogenic ClinVar variants found in the ANXA11 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
10-80155849-C-A | ANXA11-related disorder | Likely benign (Apr 26, 2019) | ||
10-80155860-T-C | Uncertain significance (May 09, 2021) | |||
10-80155890-C-T | Amyotrophic lateral sclerosis | Uncertain significance (Jan 01, 2022) | ||
10-80155891-G-A | Uncertain significance (Oct 23, 2021) | |||
10-80155900-C-T | Uncertain significance (Feb 22, 2023) | |||
10-80155902-G-T | Uncertain significance (Dec 09, 2022) | |||
10-80155930-G-A | Likely benign (Jun 26, 2023) | |||
10-80156034-T-C | Benign (May 10, 2021) | |||
10-80157564-G-A | Inclusion body myopathy and brain white matter abnormalities | Benign (Dec 05, 2021) | ||
10-80157634-C-T | Likely benign (Mar 06, 2023) | |||
10-80157636-C-T | Uncertain significance (Oct 10, 2023) | |||
10-80157637-G-A | Benign (Dec 04, 2023) | |||
10-80157642-G-A | ANXA11-related disorder • Inborn genetic diseases | Uncertain significance (Dec 09, 2023) | ||
10-80157649-C-G | Uncertain significance (Mar 09, 2021) | |||
10-80157650-G-A | Likely benign (Mar 24, 2023) | |||
10-80157656-C-T | Likely benign (May 17, 2022) | |||
10-80157665-GC-G | Uncertain significance (May 04, 2023) | |||
10-80157674-C-T | Likely benign (Jun 01, 2021) | |||
10-80157675-C-T | Amyotrophic lateral sclerosis type 23 | Uncertain significance (Sep 03, 2023) | ||
10-80157676-G-A | Uncertain significance (Sep 26, 2023) | |||
10-80157695-G-A | Likely benign (Jun 04, 2023) | |||
10-80157706-C-T | Uncertain significance (Nov 14, 2023) | |||
10-80157717-C-T | Uncertain significance (Apr 12, 2022) | |||
10-80157730-T-C | Benign (Feb 01, 2024) | |||
10-80157734-A-C | Uncertain significance (Aug 10, 2022) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
ANXA11 | protein_coding | protein_coding | ENST00000438331 | 14 | 54684 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
4.70e-10 | 0.813 | 125677 | 0 | 71 | 125748 | 0.000282 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | -0.249 | 311 | 299 | 1.04 | 0.0000179 | 3197 |
Missense in Polyphen | 118 | 123.95 | 0.95202 | 1243 | ||
Synonymous | -0.0192 | 121 | 121 | 1.00 | 0.00000772 | 1023 |
Loss of Function | 1.64 | 19 | 28.5 | 0.668 | 0.00000153 | 316 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.00111 | 0.00110 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.000879 | 0.000870 |
Finnish | 0.0000474 | 0.0000462 |
European (Non-Finnish) | 0.000160 | 0.000141 |
Middle Eastern | 0.000879 | 0.000870 |
South Asian | 0.000237 | 0.000229 |
Other | 0.000163 | 0.000163 |
dbNSFP
Source:
- Function
- FUNCTION: Binds specifically to calcyclin in a calcium-dependent manner (By similarity). Required for midbody formation and completion of the terminal phase of cytokinesis. {ECO:0000250, ECO:0000269|PubMed:15197175}.;
- Disease
- DISEASE: Amyotrophic lateral sclerosis 23 (ALS23) [MIM:617839]: A form of amyotrophic lateral sclerosis, a neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. ALS23 is an autosomal dominant form with incomplete penetrance. {ECO:0000269|PubMed:28469040}. Note=The disease is caused by mutations affecting the gene represented in this entry.;
- Pathway
- TCR
(Consensus)
Recessive Scores
- pRec
- 0.139
Intolerance Scores
- loftool
- 0.933
- rvis_EVS
- 0.49
- rvis_percentile_EVS
- 79.61
Haploinsufficiency Scores
- pHI
- 0.167
- hipred
- Y
- hipred_score
- 0.570
- ghis
- 0.458
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.978
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | High | High | High |
Primary Immunodeficiency | High | High | High |
Cancer | High | High | High |
Mouse Genome Informatics
- Gene name
- Anxa11
- Phenotype
Gene ontology
- Biological process
- phagocytosis;cytokinetic process;response to calcium ion
- Cellular component
- nuclear envelope;nucleoplasm;cytoplasm;spindle;cytosol;membrane;midbody;melanosome;specific granule;azurophil granule;phagocytic vesicle;collagen-containing extracellular matrix;extracellular exosome
- Molecular function
- RNA binding;calcium ion binding;protein binding;calcium-dependent phospholipid binding;phosphatidylethanolamine binding;MHC class II protein complex binding;S100 protein binding;calcium-dependent protein binding