FAM131B
Basic information
Region (hg38): 7:143353400-143362770
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 FAM131B 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 | 1 | |||||
missense | 22 | 22 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 22 | 0 | 1 |
Variants in FAM131B
This is a list of pathogenic ClinVar variants found in the FAM131B region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
7-143356564-C-G | not specified | Uncertain significance (Feb 23, 2023) | ||
7-143356581-A-G | not specified | Uncertain significance (May 29, 2024) | ||
7-143356756-C-T | not specified | Uncertain significance (Dec 28, 2023) | ||
7-143356767-G-A | not specified | Uncertain significance (Dec 20, 2022) | ||
7-143356776-T-A | not specified | Uncertain significance (Nov 09, 2021) | ||
7-143356777-C-T | not specified | Uncertain significance (Nov 09, 2021) | ||
7-143356815-G-C | not specified | Uncertain significance (Dec 03, 2021) | ||
7-143356853-C-A | not specified | Uncertain significance (Nov 09, 2021) | ||
7-143356905-G-A | not specified | Uncertain significance (Nov 30, 2022) | ||
7-143357313-T-G | not specified | Uncertain significance (Feb 28, 2023) | ||
7-143357421-C-T | not specified | Uncertain significance (Nov 13, 2023) | ||
7-143358866-C-T | not specified | Uncertain significance (Jan 05, 2022) | ||
7-143358884-C-G | not specified | Uncertain significance (Dec 28, 2022) | ||
7-143358889-C-T | not specified | Uncertain significance (Dec 01, 2022) | ||
7-143358914-G-A | not specified | Uncertain significance (Jul 15, 2021) | ||
7-143358965-C-A | not specified | Uncertain significance (Nov 08, 2022) | ||
7-143358975-C-T | Benign (Dec 31, 2018) | |||
7-143358978-C-T | EBV-positive nodal T- and NK-cell lymphoma | Likely benign (-) | ||
7-143359015-C-T | not specified | Uncertain significance (Dec 28, 2023) | ||
7-143359401-T-A | not specified | Uncertain significance (Apr 15, 2024) | ||
7-143359413-T-A | not specified | Uncertain significance (Aug 28, 2023) | ||
7-143359742-T-C | not specified | Uncertain significance (Jun 02, 2023) | ||
7-143359757-G-T | not specified | Uncertain significance (Oct 26, 2022) | ||
7-143360053-C-T | not specified | Uncertain significance (Feb 10, 2022) | ||
7-143360063-T-G | not specified | Uncertain significance (Feb 06, 2024) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
FAM131B | protein_coding | protein_coding | ENST00000443739 | 7 | 9371 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.991 | 0.00908 | 125744 | 0 | 4 | 125748 | 0.0000159 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 1.42 | 153 | 211 | 0.726 | 0.0000123 | 2350 |
Missense in Polyphen | 72 | 99.268 | 0.72531 | 1031 | ||
Synonymous | -0.866 | 95 | 84.9 | 1.12 | 0.00000561 | 716 |
Loss of Function | 3.77 | 1 | 18.5 | 0.0540 | 0.00000115 | 186 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.00 | 0.00 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.0000544 | 0.0000544 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.0000176 | 0.0000176 |
Middle Eastern | 0.0000544 | 0.0000544 |
South Asian | 0.0000327 | 0.0000327 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Pathway
- Disease;Signaling by BRAF and RAF fusions;Oncogenic MAPK signaling;Diseases of signal transduction
(Consensus)
Intolerance Scores
- loftool
- 0.239
- rvis_EVS
- -0.43
- rvis_percentile_EVS
- 25.37
Haploinsufficiency Scores
- pHI
- 0.537
- hipred
- Y
- hipred_score
- 0.670
- ghis
- 0.623
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.0441
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Fam131b
- Phenotype
Gene ontology
- Biological process
- Cellular component
- nucleoplasm;cytosol
- Molecular function
- protein binding