GMFB
Basic information
Region (hg38): 14:54474484-54489025
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 GMFB 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 | 7 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 7 | 0 | 0 |
Variants in GMFB
This is a list of pathogenic ClinVar variants found in the GMFB region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 14-54478113-C-T | not specified | Uncertain significance (Jun 10, 2024) | ||
| 14-54479827-C-T | not specified | Uncertain significance (Dec 19, 2023) | ||
| 14-54480882-C-A | not specified | Uncertain significance (Feb 08, 2025) | ||
| 14-54480934-A-G | not specified | Uncertain significance (Aug 26, 2024) | ||
| 14-54481455-T-C | not specified | Uncertain significance (May 14, 2024) | ||
| 14-54483673-A-G | not specified | Uncertain significance (Jan 31, 2024) | ||
| 14-54483688-T-C | not specified | Uncertain significance (Jan 24, 2023) | ||
| 14-54483733-T-A | not specified | Uncertain significance (Jul 13, 2022) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| GMFB | protein_coding | protein_coding | ENST00000358056 | 7 | 14713 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.00533 | 0.902 | 125711 | 0 | 6 | 125717 | 0.0000239 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 1.31 | 44 | 76.2 | 0.578 | 0.00000429 | 931 |
| Missense in Polyphen | 7 | 26.635 | 0.26281 | 316 | ||
| Synonymous | -1.26 | 33 | 25.0 | 1.32 | 0.00000138 | 239 |
| Loss of Function | 1.44 | 5 | 9.88 | 0.506 | 5.15e-7 | 125 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.0000908 | 0.0000907 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.0000356 | 0.0000352 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: This protein causes differentiation of brain cells, stimulation of neural regeneration, and inhibition of proliferation of tumor cells.;
Recessive Scores
- pRec
- 0.192
Intolerance Scores
- loftool
- 0.178
- rvis_EVS
- -0.01
- rvis_percentile_EVS
- 52.85
Haploinsufficiency Scores
- pHI
- 0.773
- hipred
- N
- hipred_score
- 0.329
- ghis
- 0.663
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.733
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Gmfb
- Phenotype
- behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); 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);
Gene ontology
- Biological process
- protein phosphorylation;negative regulation of protein kinase activity;signal transduction;nervous system development;learning;locomotory behavior;regulation of signaling receptor activity;negative regulation of Arp2/3 complex-mediated actin nucleation;positive regulation of catalytic activity;actin filament debranching
- Cellular component
- actin cortical patch
- Molecular function
- actin binding;protein kinase inhibitor activity;enzyme activator activity;growth factor activity;Arp2/3 complex binding