FAM181A

family with sequence similarity 181 member A

Basic information

Region (hg38): 14:93918894-93929608

Previous symbols: [ "C14orf152" ]

Links

ENSG00000140067 ∙ NCBI:90050 ∙ ∙ HGNC:20491 ∙ Uniprot:Q8N9Y4 ∙ 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 FAM181A gene.

• not_specified (49 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FAM181A gene is commonly pathogenic or not. These statistics are base on transcript: NM_001207073.2. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			46	2		48
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	46	2	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FAM181A	protein_coding	protein_coding	ENST00000267594	2	10715

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000764	0.783	125732	1	12	125745	0.0000517

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.453	192	211	0.912	0.0000120	2259
Missense in Polyphen		62	79.1	0.78382		856
Synonymous	-0.779	105	95.3	1.10	0.00000586	758
Loss of Function	1.04	6	9.47	0.634	3.99e-7	121

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000123	0.0000615
Ashkenazi Jewish	0.0000996	0.0000992
East Asian	0.000166	0.000163
Finnish	0.0000939	0.0000924
European (Non-Finnish)	0.0000353	0.0000352
Middle Eastern	0.000166	0.000163
South Asian	0.0000653	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.469
• rvis_EVS: 0.29
• rvis_percentile_EVS: 71.5

Haploinsufficiency Scores

• pHI: 0.238
• hipred: N
• hipred_score: 0.146
• ghis: 0.491

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.106

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fam181a