FAM118A

family with sequence similarity 118 member A

Basic information

Region (hg38): 22:45308967-45341955

Previous symbols: [ "C22orf8" ]

Links

ENSG00000100376 ∙ NCBI:55007 ∙ ∙ HGNC:1313 ∙ Uniprot:Q9NWS6 ∙ 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 FAM118A gene.

• Inborn genetic diseases (13 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FAM118A 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		1
missense			13			13
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	13	1	0

Variants in FAM118A

This is a list of pathogenic ClinVar variants found in the FAM118A region.

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

Position	Type	Phenotype	Significance	ClinVar
22-45323179-T-G		not specified	Uncertain significance (Apr 07, 2022)
22-45323197-C-T		not specified	Uncertain significance (Mar 07, 2024)
22-45323260-G-A		not specified	Uncertain significance (Oct 18, 2021)
22-45323295-C-T			Likely benign (Sep 01, 2022)
22-45323302-G-A		not specified	Uncertain significance (Jan 10, 2023)
22-45323341-G-A		not specified	Uncertain significance (Aug 15, 2023)
22-45323353-G-A		not specified	Uncertain significance (Jul 13, 2022)
22-45323380-C-T		not specified	Uncertain significance (Jan 23, 2023)
22-45327917-C-T		not specified	Uncertain significance (Feb 15, 2023)
22-45327923-C-G		not specified	Uncertain significance (Aug 26, 2022)
22-45327983-A-C		not specified	Uncertain significance (Feb 28, 2024)
22-45328002-A-T		not specified	Uncertain significance (Apr 18, 2023)
22-45328055-A-G		not specified	Uncertain significance (May 22, 2023)
22-45330696-G-A		not specified	Uncertain significance (Oct 12, 2021)
22-45332617-G-A		not specified	Uncertain significance (Mar 01, 2023)
22-45332659-C-G		not specified	Uncertain significance (Dec 19, 2023)
22-45336348-G-T		not specified	Uncertain significance (Sep 27, 2022)
22-45336381-G-A		not specified	Uncertain significance (Jun 18, 2021)
22-45336382-T-G		not specified	Uncertain significance (Nov 22, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FAM118A	protein_coding	protein_coding	ENST00000216214	8	32988

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000632	0.908	125699	0	49	125748	0.000195

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.948	178	217	0.819	0.0000137	2345
Missense in Polyphen		50	66.603	0.75071		729
Synonymous	-0.403	95	90.1	1.05	0.00000633	679
Loss of Function	1.56	9	15.6	0.576	6.63e-7	198

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000535	0.000518
Ashkenazi Jewish	0.00	0.00
East Asian	0.000173	0.000163
Finnish	0.0000463	0.0000462
European (Non-Finnish)	0.000268	0.000255
Middle Eastern	0.000173	0.000163
South Asian	0.0000668	0.0000653
Other	0.000372	0.000163

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0920

Intolerance Scores

• loftool: 0.912
• rvis_EVS: 0
• rvis_percentile_EVS: 53.85

Haploinsufficiency Scores

• pHI: 0.106
• hipred: N
• hipred_score: 0.452
• ghis: 0.439

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.226

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fam118a

Gene ontology

• Cellular component: integral component of membrane
• Molecular function: protein binding;identical protein binding