ANP32B
acidic nuclear phosphoprotein 32 family member B, the group of ANP32 acidic nuclear phosphoproteins
Basic information
Region (hg38): 9:97983341-98015943
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the ANP32B 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 | 3 | |||||
| missense | 4 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 1 | |||||
| Total | 0 | 0 | 3 | 2 | 3 |
Variants in ANP32B
This is a list of pathogenic ClinVar variants found in the ANP32B region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 9-97983620-A-G | Benign (Jul 15, 2020) | |||
| 9-97994635-G-A | not specified | Uncertain significance (Nov 15, 2021) | ||
| 9-97994765-G-A | Likely benign (Jan 01, 2023) | |||
| 9-98005025-A-C | Benign (Jun 08, 2018) | |||
| 9-98011293-G-A | Likely benign (May 21, 2018) | |||
| 9-98011296-C-T | Benign (Jul 04, 2018) | |||
| 9-98011332-A-T | not specified | Uncertain significance (Dec 19, 2022) | ||
| 9-98011361-A-T | not specified | Uncertain significance (Jun 10, 2022) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| ANP32B | protein_coding | protein_coding | ENST00000339399 | 7 | 32583 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.958 | 0.0417 | 0 | 0 | 0 | 0 | 0.00 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 1.27 | 82 | 121 | 0.677 | 0.00000575 | 1675 |
| Missense in Polyphen | 12 | 26.757 | 0.44848 | 404 | ||
| Synonymous | 0.393 | 44 | 47.4 | 0.927 | 0.00000262 | 411 |
| Loss of Function | 3.26 | 1 | 14.3 | 0.0697 | 8.42e-7 | 187 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.00 | 0.00 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.00 | 0.00 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Multifunctional protein working as a cell cycle progression factor as well as a cell survival factor. Required for the progression from the G1 to the S phase. Anti-apoptotic protein which functions as a caspase-3 inhibitor. Has no phosphatase 2A (PP2A) inhibitor activity (By similarity). Exhibits histone chaperone properties, stimulating core histones to assemble into a nucleosome. {ECO:0000250, ECO:0000269|PubMed:20538007}.;
- Pathway
- miR-targeted genes in epithelium - TarBase;miR-targeted genes in lymphocytes - TarBase;miR-targeted genes in muscle cell - TarBase;miR-targeted genes in squamous cell - TarBase
(Consensus)
Recessive Scores
- pRec
- 0.109
Intolerance Scores
- loftool
- rvis_EVS
- -0.16
- rvis_percentile_EVS
- 41.25
Haploinsufficiency Scores
- pHI
- 0.827
- hipred
- N
- hipred_score
- 0.463
- ghis
- 0.655
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- K
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.890
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Anp32b
- Phenotype
- growth/size/body region phenotype; craniofacial phenotype; homeostasis/metabolism phenotype; cellular phenotype; respiratory system phenotype; neoplasm; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); digestive/alimentary phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); hearing/vestibular/ear phenotype; skeleton phenotype; renal/urinary system phenotype;
Gene ontology
- Biological process
- vasculature development;nucleosome assembly;activation of cysteine-type endopeptidase activity involved in apoptotic process;ventricular system development;negative regulation of cell differentiation;positive regulation of protein export from nucleus;inner ear development;roof of mouth development
- Cellular component
- nucleus;nucleolus;cytoplasm;extracellular exosome
- Molecular function
- protein binding;histone binding;RNA polymerase binding