FAM168A

family with sequence similarity 168 member A

Basic information

Region (hg38): 11:73400487-73598189

Previous symbols: [ "KIAA0280" ]

Links

ENSG00000054965 ∙ NCBI:23201 ∙ OMIM:616316 ∙ HGNC:28999 ∙ Uniprot:Q92567 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the FAM168A gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FAM168A 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			9			9
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	9	0	0

Variants in FAM168A

This is a list of pathogenic ClinVar variants found in the FAM168A region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
11-73407571-T-C		not specified	Uncertain significance (Jan 03, 2024)
11-73407613-G-A		not specified	Uncertain significance (May 26, 2023)
11-73407616-G-A		not specified	Uncertain significance (Jan 03, 2024)
11-73409529-C-T		not specified	Uncertain significance (Nov 15, 2021)
11-73409535-C-T		not specified	Uncertain significance (Oct 25, 2023)
11-73409546-G-A		not specified	Uncertain significance (Jan 16, 2025)
11-73411443-G-A		not specified	Uncertain significance (Aug 14, 2024)
11-73411471-A-T		not specified	Uncertain significance (Oct 16, 2024)
11-73430731-T-C		not specified	Uncertain significance (Jul 14, 2023)
11-73468417-T-C		not specified	Uncertain significance (Jan 26, 2025)
11-73468453-C-T		not specified	Uncertain significance (Sep 15, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FAM168A	protein_coding	protein_coding	ENST00000356467	6	197703

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.987	0.0133	120145	0	1	120146	0.00000416

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.66	89	145	0.612	0.00000800	1496
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000316	0.0000316
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• 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

Haploinsufficiency Scores

• pHI: 0.335
• hipred: Y
• hipred_score: 0.654
• ghis: 0.650

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.430

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Fam168a

Gene ontology

• Biological process: positive regulation of base-excision repair
• Molecular function: protein binding