SH3BP4
Basic information
Region (hg38): 2:234952016-235055714
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 SH3BP4 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 | 11 | |||||
missense | 55 | 60 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 55 | 9 | 7 |
Variants in SH3BP4
This is a list of pathogenic ClinVar variants found in the SH3BP4 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
2-235035008-G-A | Likely benign (Nov 01, 2022) | |||
2-235035016-G-A | not specified | Uncertain significance (Mar 16, 2024) | ||
2-235035022-G-A | not specified | Uncertain significance (Feb 28, 2023) | ||
2-235035024-G-A | not specified | Uncertain significance (Feb 15, 2023) | ||
2-235035025-C-T | not specified | Uncertain significance (Mar 25, 2024) | ||
2-235035028-C-T | Uncertain significance (Nov 01, 2023) | |||
2-235035031-A-G | not specified | Uncertain significance (Oct 22, 2021) | ||
2-235035037-A-G | not specified | Likely benign (Oct 30, 2023) | ||
2-235040890-C-T | not specified | Uncertain significance (Apr 09, 2024) | ||
2-235040897-C-A | not specified | Uncertain significance (Jan 22, 2024) | ||
2-235040919-C-A | not specified | Uncertain significance (Sep 17, 2021) | ||
2-235040926-C-T | not specified | Uncertain significance (Oct 10, 2023) | ||
2-235040931-C-T | Likely benign (Dec 01, 2023) | |||
2-235040968-T-A | not specified | Uncertain significance (Nov 02, 2021) | ||
2-235041113-G-A | not specified | Uncertain significance (Mar 29, 2024) | ||
2-235041219-A-T | not specified | Uncertain significance (Jan 03, 2024) | ||
2-235041224-C-T | not specified | Uncertain significance (Dec 08, 2023) | ||
2-235041274-C-G | not specified | Uncertain significance (May 25, 2022) | ||
2-235041274-C-T | not specified | Uncertain significance (Feb 28, 2024) | ||
2-235041298-G-A | not specified | Uncertain significance (Mar 29, 2022) | ||
2-235041301-A-T | not specified | Uncertain significance (May 25, 2022) | ||
2-235041340-G-A | not specified | Uncertain significance (Jul 06, 2022) | ||
2-235041364-A-C | not specified | Uncertain significance (Jan 31, 2024) | ||
2-235041431-C-T | not specified | Uncertain significance (Oct 04, 2022) | ||
2-235041433-G-A | not specified | Uncertain significance (Mar 26, 2024) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
SH3BP4 | protein_coding | protein_coding | ENST00000409212 | 4 | 103742 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.00253 | 0.997 | 125697 | 0 | 51 | 125748 | 0.000203 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.628 | 539 | 582 | 0.927 | 0.0000380 | 6318 |
Missense in Polyphen | 150 | 198.38 | 0.75611 | 2083 | ||
Synonymous | -0.644 | 281 | 268 | 1.05 | 0.0000201 | 1971 |
Loss of Function | 3.35 | 10 | 29.7 | 0.337 | 0.00000153 | 325 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000438 | 0.000438 |
Ashkenazi Jewish | 0.00169 | 0.00169 |
East Asian | 0.000163 | 0.000163 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.000115 | 0.000114 |
Middle Eastern | 0.000163 | 0.000163 |
South Asian | 0.000131 | 0.0000980 |
Other | 0.000163 | 0.000163 |
dbNSFP
Source:
- Function
- FUNCTION: May function in transferrin receptor internalization at the plasma membrane through a cargo-specific control of clathrin- mediated endocytosis. Alternatively, may act as a negative regulator of the amino acid-induced TOR signaling by inhibiting the formation of active Rag GTPase complexes. Preferentially binds inactive Rag GTPase complexes and prevents their interaction with the mTORC1 complex inhibiting its relocalization to lysosomes and its activation. Thereby, may indirectly regulate cell growth, proliferation and autophagy. {ECO:0000269|PubMed:16325581, ECO:0000269|PubMed:22575674}.;
- Pathway
- 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
- 0.472
- rvis_EVS
- -0.72
- rvis_percentile_EVS
- 14.28
Haploinsufficiency Scores
- pHI
- 0.168
- hipred
- Y
- hipred_score
- 0.756
- ghis
- 0.478
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.742
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Sh3bp4
- Phenotype
Gene ontology
- Biological process
- endocytosis;negative regulation of cell population proliferation;positive regulation of autophagy;negative regulation of cell growth;negative regulation of TOR signaling;negative regulation of GTPase activity;amino acid import;regulation of catalytic activity;protein localization to lysosome;cellular response to amino acid stimulus
- Cellular component
- nucleus;cytoplasm;clathrin-coated pit;clathrin-coated vesicle;extracellular exosome
- Molecular function
- GDP-dissociation inhibitor activity;protein binding;Ras GTPase binding;identical protein binding