PURB
Basic information
Region (hg38): 7:44876298-44885530
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 PURB 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 | 13 | 13 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 13 | 0 | 0 |
Variants in PURB
This is a list of pathogenic ClinVar variants found in the PURB region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 7-44884708-C-G | not specified | Uncertain significance (Oct 25, 2023) | ||
| 7-44884708-C-T | not specified | Uncertain significance (Dec 01, 2022) | ||
| 7-44884724-C-A | not specified | Uncertain significance (Jul 20, 2021) | ||
| 7-44884741-C-A | not specified | Uncertain significance (Apr 07, 2022) | ||
| 7-44884867-G-A | not specified | Uncertain significance (Feb 15, 2023) | ||
| 7-44884960-T-C | not specified | Uncertain significance (Mar 04, 2024) | ||
| 7-44885006-G-A | not specified | Uncertain significance (Jun 29, 2023) | ||
| 7-44885072-G-A | not specified | Uncertain significance (Oct 25, 2022) | ||
| 7-44885128-G-A | not specified | Uncertain significance (May 26, 2022) | ||
| 7-44885272-C-T | not specified | Uncertain significance (Sep 27, 2021) | ||
| 7-44885273-C-T | not specified | Uncertain significance (Jun 01, 2023) | ||
| 7-44885284-G-A | not specified | Uncertain significance (Aug 26, 2022) | ||
| 7-44885317-C-T | not specified | Uncertain significance (Oct 06, 2021) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| PURB | protein_coding | protein_coding | ENST00000395699 | 1 | 9065 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.625 | 0.368 | 0 | 0 | 0 | 0 | 0.00 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 1.74 | 102 | 165 | 0.619 | 0.00000782 | 1982 |
| Missense in Polyphen | 37 | 92.454 | 0.4002 | 1143 | ||
| Synonymous | -1.87 | 96 | 75.4 | 1.27 | 0.00000367 | 644 |
| Loss of Function | 2.18 | 1 | 7.38 | 0.136 | 3.25e-7 | 86 |
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: Has capacity to bind repeated elements in single- stranded DNA such as the purine-rich single strand of the PUR element located upstream of the MYC gene. Plays a role in the control of vascular smooth muscle (VSM) alpha-actin gene transcription as repressor in myoblasts and fibroblasts. Participates in transcriptional and translational regulation of alpha-MHC expression in cardiac myocytes by binding to the purine- rich negative regulatory (PNR) element. Modulates constitutive liver galectin-3 gene transcription by binding to its promoter. May play a role in the dendritic transport of a subset of mRNAs (By similarity). {ECO:0000250, ECO:0000269|PubMed:1448097}.;
Haploinsufficiency Scores
- pHI
- 0.727
- hipred
- N
- hipred_score
- 0.425
- ghis
- 0.682
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- S
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.571
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Purb
- Phenotype
Gene ontology
- Biological process
- negative regulation of transcription by RNA polymerase II;cell population proliferation;cell differentiation;regulation of myeloid cell differentiation
- Cellular component
- nucleus;DNA replication factor A complex
- Molecular function
- RNA polymerase II regulatory region sequence-specific DNA binding;DNA-binding transcription factor activity, RNA polymerase II-specific;DNA-binding transcription repressor activity, RNA polymerase II-specific;double-stranded DNA binding;single-stranded DNA binding;RNA binding;mRNA binding;transcription factor binding;purine-rich negative regulatory element binding;sequence-specific DNA binding;SMAD binding