FAM170A
Basic information
Region (hg38): 5:119629558-119635822
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 FAM170A 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 | 35 | 40 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 35 | 5 | 0 |
Variants in FAM170A
This is a list of pathogenic ClinVar variants found in the FAM170A region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 5-119629774-A-T | not specified | Uncertain significance (Jul 13, 2022) | ||
| 5-119629781-C-A | not specified | Uncertain significance (Oct 20, 2024) | ||
| 5-119632751-T-A | not specified | Uncertain significance (Sep 26, 2022) | ||
| 5-119632760-C-T | not specified | Uncertain significance (Nov 15, 2023) | ||
| 5-119632789-A-T | not specified | Uncertain significance (Sep 29, 2022) | ||
| 5-119632795-G-A | not specified | Uncertain significance (Feb 15, 2025) | ||
| 5-119632796-T-C | not specified | Uncertain significance (Oct 12, 2024) | ||
| 5-119632799-C-T | not specified | Uncertain significance (Dec 21, 2023) | ||
| 5-119632805-G-A | not specified | Uncertain significance (May 23, 2023) | ||
| 5-119632820-T-C | not specified | Uncertain significance (Apr 19, 2023) | ||
| 5-119632828-G-A | not specified | Uncertain significance (Mar 02, 2023) | ||
| 5-119632843-G-A | not specified | Uncertain significance (Aug 17, 2022) | ||
| 5-119632846-T-C | not specified | Uncertain significance (Sep 30, 2024) | ||
| 5-119632855-T-C | not specified | Uncertain significance (Sep 26, 2024) | ||
| 5-119633978-G-A | not specified | Likely benign (Oct 04, 2022) | ||
| 5-119634040-C-T | not specified | Likely benign (Apr 29, 2024) | ||
| 5-119634059-T-C | not specified | Uncertain significance (Oct 25, 2023) | ||
| 5-119634068-A-G | not specified | Uncertain significance (Mar 20, 2024) | ||
| 5-119634088-G-A | not specified | Uncertain significance (Jan 30, 2024) | ||
| 5-119634110-A-C | not specified | Uncertain significance (Feb 26, 2024) | ||
| 5-119634115-G-A | not specified | Uncertain significance (Nov 11, 2024) | ||
| 5-119634187-G-A | not specified | Uncertain significance (Feb 17, 2024) | ||
| 5-119634189-A-C | not specified | Uncertain significance (Sep 22, 2023) | ||
| 5-119634302-G-T | not specified | Uncertain significance (Jan 07, 2022) | ||
| 5-119634362-G-A | not specified | Uncertain significance (Nov 08, 2024) |
GnomAD
Source:
dbNSFP
Source:
- Function
- FUNCTION: Acts as a nuclear transcription factor that positively regulates the expression of heat shock genes. Binds to heat shock promoter elements (HSE). {ECO:0000269|PubMed:20162441}.;
Recessive Scores
- pRec
- 0.0767
Intolerance Scores
- loftool
- 0.900
- rvis_EVS
- 0.35
- rvis_percentile_EVS
- 74.37
Haploinsufficiency Scores
- pHI
- hipred
- hipred_score
- ghis
- 0.420
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.0578
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Fam170a
- Phenotype
Gene ontology
- Biological process
- transcription by RNA polymerase II;positive regulation of transcription, DNA-templated
- Cellular component
- nucleus
- Molecular function
- DNA binding;metal ion binding