NABP2
Basic information
Region (hg38): 12:56222014-56229854
Previous symbols: [ "OBFC2B" ]
Links
Phenotypes
GenCC
Source:
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 NABP2 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 | 0 | |||||
missense | 8 | |||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 8 | 0 | 0 |
Variants in NABP2
This is a list of pathogenic ClinVar variants found in the NABP2 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
12-56224929-G-A | not specified | Uncertain significance (Feb 17, 2022) | ||
12-56225396-G-A | not specified | Uncertain significance (Aug 18, 2021) | ||
12-56225635-T-C | not specified | Uncertain significance (Dec 01, 2022) | ||
12-56226410-G-A | not specified | Uncertain significance (Sep 17, 2021) | ||
12-56229061-G-A | not specified | Uncertain significance (Mar 17, 2023) | ||
12-56229064-G-A | not specified | Uncertain significance (Mar 01, 2023) | ||
12-56229092-C-T | not specified | Uncertain significance (Oct 13, 2023) | ||
12-56229094-C-T | not specified | Uncertain significance (May 10, 2024) | ||
12-56229158-C-T | not specified | Uncertain significance (May 18, 2023) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
NABP2 | protein_coding | protein_coding | ENST00000380198 | 6 | 7840 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.973 | 0.0274 | 125741 | 0 | 6 | 125747 | 0.0000239 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 1.63 | 74 | 125 | 0.591 | 0.00000707 | 1358 |
Missense in Polyphen | 22 | 59.55 | 0.36943 | 630 | ||
Synonymous | -0.120 | 49 | 47.9 | 1.02 | 0.00000293 | 433 |
Loss of Function | 3.09 | 0 | 11.1 | 0.00 | 7.14e-7 | 106 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000149 | 0.000149 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.0000544 | 0.0000544 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.00000887 | 0.00000879 |
Middle Eastern | 0.0000544 | 0.0000544 |
South Asian | 0.00 | 0.00 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Component of the SOSS complex, a multiprotein complex that functions downstream of the MRN complex to promote DNA repair and G2/M checkpoint. In the SOSS complex, acts as a sensor of single-stranded DNA that binds to single-stranded DNA, in particular to polypyrimidines. The SOSS complex associates with DNA lesions and influences diverse endpoints in the cellular DNA damage response including cell-cycle checkpoint activation, recombinational repair and maintenance of genomic stability. Required for efficient homologous recombination-dependent repair of double-strand breaks (DSBs) and ATM-dependent signaling pathways. {ECO:0000269|PubMed:18449195, ECO:0000269|PubMed:19605351, ECO:0000269|PubMed:19683501}.;
- Pathway
- Mesodermal Commitment Pathway;Gene expression (Transcription);RNA polymerase II transcribes snRNA genes;RNA Polymerase II Transcription
(Consensus)
Intolerance Scores
- loftool
- rvis_EVS
- -0.14
- rvis_percentile_EVS
- 42.88
Haploinsufficiency Scores
- pHI
- 0.295
- hipred
- Y
- hipred_score
- 0.775
- ghis
- 0.625
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- gene_indispensability_score
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Low | Low | Low |
Primary Immunodeficiency | Low | Low | Low |
Cancer | Low | Low | Low |
Mouse Genome Informatics
- Gene name
- Nabp2
- Phenotype
- endocrine/exocrine gland phenotype; growth/size/body region phenotype; homeostasis/metabolism phenotype; cellular phenotype; craniofacial phenotype; digestive/alimentary phenotype; hearing/vestibular/ear phenotype; limbs/digits/tail phenotype; neoplasm; hematopoietic system phenotype; reproductive system phenotype; 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); respiratory system phenotype; embryo phenotype; skeleton phenotype; immune system phenotype;
Gene ontology
- Biological process
- double-strand break repair via homologous recombination;DNA repair;cellular response to DNA damage stimulus;mitotic cell cycle checkpoint;response to ionizing radiation;snRNA transcription by RNA polymerase II;regulation of telomerase activity;establishment of protein localization to telomere;positive regulation of telomere capping
- Cellular component
- nuclear chromosome, telomeric region;nucleus;nucleoplasm;cytosol;SOSS complex
- Molecular function
- single-stranded DNA binding;protein binding;C-rich strand telomeric DNA binding;DNA polymerase binding;G-rich strand telomeric DNA binding