FAM168A
protein-codingfamily with sequence similarity 168 member A
Gene summary
Involved in positive regulation of base-excision repair. [provided by Alliance of Genome Resources, Jul 2025]
- KIAA0280
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~197.7 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to FAM168A variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_015159.3. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 16 | 16 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 16 | 0 | 0 | 16 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_055974.1 | 6 | MANE Select | |
| Ensembl | ENSP00000348852.4 | 6 | MANE Select | |
| RefSeq | NP_001272979.1 | 7 | Standard | |
| RefSeq | NP_001272980.1 | 4 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- positive regulation of base-excision repair
Molecular Function
- protein binding
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000356467
- Coding exons
- 6
- Length
- 197703
- Individuals with no LoFs
- 120145
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 1
- Defined
- 120146
- p
- 0.00000416
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 1.66 | 89 | 145 | 0.612 | 0.00000800 | 1496 |
| Missense (PolyPhen) | 22 | 42.341 | 0.51959 | 456 | ||
| Synonymous | 0.143 | 62 | 63.4 | 0.977 | 0.00000426 | 496 |
| Loss of Function | 3.35 | 0 | 13.1 | 0.00 | 6.42e-7 | 140 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0 | 0.0 | absent |
| Latino/Admixed American | 0.000032 | 0.000032 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0 | 0.0 | absent |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0 | 0.0 | absent |
| South Asian | 0 | 0.0 | absent |
| Other | 0 | 0.0 | absent |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: In cancer context, protects cells from induced-DNA damage and apoptosis. Acts, at least in part, through PI3K/AKT/NFKB signaling pathway and by preventing POLB degradation. Decreases POLB ubiquitation and stabilizes its protein levels. {ECO:0000269|PubMed:21334329, ECO:0000269|PubMed:21603883, ECO:0000269|PubMed:23251525, ECO:0000269|PubMed:25260657}.;
- Disease
- DISEASE: Note=Associated with cisplatin (DDP)-resistance and radioresistance in the treatment of lung cancer as well as oral squamous cell carcinoma and poor clinical outcome in patients. {ECO:0000269|PubMed:21334329, ECO:0000269|PubMed:21603883, ECO:0000269|PubMed:23251525, ECO:0000269|PubMed:25260657}.;
Recessive Scores
- pRec
- 0.112
Intolerance Scores
- LoFtool
- 0.0716
- RVIS EVS
- -0.3
- RVIS percentile EVS
- 32.62
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.430
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |