USP47
Basic information
Region (hg38): 11:11841422-11961887
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 USP47 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 | 2 | |||||
missense | 52 | 53 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 1 | 1 | ||||
non coding | 0 | |||||
Total | 0 | 0 | 52 | 2 | 1 |
Variants in USP47
This is a list of pathogenic ClinVar variants found in the USP47 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
11-11884506-G-A | not specified | Uncertain significance (Aug 08, 2023) | ||
11-11884509-A-C | not specified | Uncertain significance (Dec 20, 2023) | ||
11-11884532-C-T | Likely benign (May 01, 2022) | |||
11-11892004-A-G | not specified | Uncertain significance (Dec 05, 2022) | ||
11-11892049-A-G | not specified | Uncertain significance (Aug 02, 2022) | ||
11-11892058-G-A | not specified | Uncertain significance (Dec 28, 2023) | ||
11-11902812-A-G | not specified | Uncertain significance (Jul 25, 2023) | ||
11-11902833-A-G | not specified | Uncertain significance (Aug 28, 2023) | ||
11-11920247-G-A | not specified | Uncertain significance (Apr 25, 2022) | ||
11-11920415-T-C | not specified | Uncertain significance (Oct 14, 2023) | ||
11-11920462-G-C | not specified | Uncertain significance (Jan 23, 2024) | ||
11-11920465-A-C | not specified | Uncertain significance (Jun 24, 2022) | ||
11-11922760-G-A | not specified | Uncertain significance (Sep 17, 2021) | ||
11-11922796-A-G | not specified | Uncertain significance (Nov 17, 2022) | ||
11-11929489-G-C | not specified | Uncertain significance (Feb 10, 2023) | ||
11-11930090-G-A | not specified | Uncertain significance (Mar 16, 2022) | ||
11-11933103-G-A | not specified | Uncertain significance (May 05, 2023) | ||
11-11933853-C-G | not specified | Uncertain significance (Jan 04, 2024) | ||
11-11933916-C-T | not specified | Uncertain significance (Nov 17, 2022) | ||
11-11933925-T-G | not specified | Uncertain significance (Jan 10, 2022) | ||
11-11936393-G-A | not specified | Uncertain significance (May 21, 2024) | ||
11-11936456-C-A | not specified | Uncertain significance (Aug 02, 2021) | ||
11-11938313-A-G | not specified | Likely benign (Dec 27, 2023) | ||
11-11938329-A-G | not specified | Uncertain significance (Jul 19, 2022) | ||
11-11938343-G-A | not specified | Uncertain significance (Jun 22, 2021) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
USP47 | protein_coding | protein_coding | ENST00000339865 | 27 | 117901 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
1.00 | 4.56e-9 | 124776 | 0 | 13 | 124789 | 0.0000521 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 2.44 | 489 | 666 | 0.734 | 0.0000334 | 8568 |
Missense in Polyphen | 138 | 273.65 | 0.50429 | 3569 | ||
Synonymous | 0.586 | 221 | 232 | 0.951 | 0.0000117 | 2267 |
Loss of Function | 7.34 | 4 | 70.5 | 0.0567 | 0.00000364 | 894 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.0000290 | 0.0000290 |
Ashkenazi Jewish | 0.000109 | 0.0000993 |
East Asian | 0.00 | 0.00 |
Finnish | 0.0000467 | 0.0000464 |
European (Non-Finnish) | 0.0000535 | 0.0000530 |
Middle Eastern | 0.00 | 0.00 |
South Asian | 0.000135 | 0.000131 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Ubiquitin-specific protease that specifically deubiquitinates monoubiquitinated DNA polymerase beta (POLB), stabilizing POLB thereby playing a role in base-excision repair (BER). Acts as a regulator of cell growth and genome integrity. May also indirectly regulate CDC25A expression at a transcriptional level. {ECO:0000269|PubMed:19966869, ECO:0000269|PubMed:21362556}.;
- Pathway
- Post-translational protein modification;Metabolism of proteins;Ub-specific processing proteases;Deubiquitination
(Consensus)
Recessive Scores
- pRec
- 0.110
Intolerance Scores
- loftool
- 0.171
- rvis_EVS
- -0.62
- rvis_percentile_EVS
- 17.45
Haploinsufficiency Scores
- pHI
- 0.190
- hipred
- Y
- hipred_score
- 0.816
- ghis
- 0.610
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.637
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Usp47
- Phenotype
- immune system phenotype; hematopoietic system phenotype; homeostasis/metabolism phenotype; cellular phenotype;
Gene ontology
- Biological process
- base-excision repair;ubiquitin-dependent protein catabolic process;cellular response to DNA damage stimulus;negative regulation of G2/M transition of mitotic cell cycle;protein deubiquitination;positive regulation of cell growth;regulation of protein stability;cellular response to UV;monoubiquitinated protein deubiquitination;response to drug;negative regulation of apoptotic process;negative regulation of cysteine-type endopeptidase activity involved in apoptotic process;negative regulation of transcription, DNA-templated;positive regulation of canonical Wnt signaling pathway;negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage
- Cellular component
- nucleoplasm;cytoplasm;cytosol;SCF ubiquitin ligase complex
- Molecular function
- cysteine-type endopeptidase activity;thiol-dependent ubiquitin-specific protease activity;protein binding;thiol-dependent ubiquitinyl hydrolase activity;WD40-repeat domain binding;ubiquitinyl hydrolase activity