FAIM
Basic information
Region (hg38): 3:138608606-138633376
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 FAIM 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 | 14 | 14 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 14 | 0 | 0 |
Variants in FAIM
This is a list of pathogenic ClinVar variants found in the FAIM region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 3-138611022-A-T | not specified | Uncertain significance (Nov 12, 2024) | ||
| 3-138621441-G-A | not specified | Uncertain significance (Feb 17, 2023) | ||
| 3-138621474-G-T | not specified | Uncertain significance (May 05, 2023) | ||
| 3-138622213-T-A | not specified | Uncertain significance (May 29, 2024) | ||
| 3-138622222-T-C | not specified | Uncertain significance (Mar 20, 2023) | ||
| 3-138622225-G-T | not specified | Uncertain significance (Oct 06, 2021) | ||
| 3-138622377-G-T | not specified | Uncertain significance (Mar 15, 2024) | ||
| 3-138622411-T-G | not specified | Uncertain significance (Dec 03, 2021) | ||
| 3-138629124-G-A | not specified | Uncertain significance (Dec 07, 2021) | ||
| 3-138632943-A-G | not specified | Uncertain significance (Mar 29, 2023) | ||
| 3-138632954-G-A | not specified | Uncertain significance (Oct 29, 2021) | ||
| 3-138632979-A-G | not specified | Uncertain significance (Feb 07, 2023) | ||
| 3-138632988-A-C | not specified | Uncertain significance (Jul 19, 2023) | ||
| 3-138632992-A-G | not specified | Uncertain significance (Jun 18, 2021) | ||
| 3-138633014-C-T | not specified | Uncertain significance (Oct 07, 2024) | ||
| 3-138633015-G-A | not specified | Uncertain significance (Aug 30, 2021) | ||
| 3-138633035-A-G | not specified | Uncertain significance (Mar 07, 2024) | ||
| 3-138633054-G-C | not specified | Uncertain significance (Nov 10, 2023) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| FAIM | protein_coding | protein_coding | ENST00000338446 | 5 | 24771 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.000118 | 0.627 | 125710 | 0 | 34 | 125744 | 0.000135 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.582 | 101 | 119 | 0.850 | 0.00000601 | 1417 |
| Missense in Polyphen | 36 | 36.992 | 0.97318 | 445 | ||
| Synonymous | -0.257 | 44 | 41.9 | 1.05 | 0.00000236 | 382 |
| Loss of Function | 0.744 | 7 | 9.47 | 0.739 | 4.96e-7 | 122 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000485 | 0.000485 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.0000544 | 0.0000544 |
| Finnish | 0.000231 | 0.000231 |
| European (Non-Finnish) | 0.0000980 | 0.0000967 |
| Middle Eastern | 0.0000544 | 0.0000544 |
| South Asian | 0.000181 | 0.000163 |
| Other | 0.000339 | 0.000326 |
dbNSFP
Source:
- Function
- FUNCTION: Plays a role as an inducible effector molecule that mediates Fas resistance produced by surface Ig engagement in B cells. {ECO:0000250}.;
- Pathway
- Neurotrophic factor-mediated Trk receptor signaling
(Consensus)
Recessive Scores
- pRec
- 0.120
Intolerance Scores
- loftool
- 0.893
- rvis_EVS
- 0.17
- rvis_percentile_EVS
- 65.56
Haploinsufficiency Scores
- pHI
- 0.104
- hipred
- N
- hipred_score
- 0.230
- ghis
- 0.454
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- S
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.254
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | High | Medium | High |
| Cancer | High | High | High |
Mouse Genome Informatics
- Gene name
- Faim
- Phenotype
- immune system phenotype; liver/biliary system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); hematopoietic system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); endocrine/exocrine gland phenotype; cellular phenotype; homeostasis/metabolism phenotype;
Gene ontology
- Biological process
- apoptotic process;negative regulation of apoptotic process
- Cellular component
- cytoplasm
- Molecular function
- protein binding