FAM151A

family with sequence similarity 151 member A

Basic information

Region (hg38): 1:54609181-54623556

Previous symbols: [ "C1orf179" ]

Links

ENSG00000162391 ∙ NCBI:338094 ∙ ∙ HGNC:25032 ∙ Uniprot:Q8WW52 ∙ 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 FAM151A gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FAM151A 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					2	2
missense			55	10	3	68
nonsense					1	1
start loss						0
frameshift				2	1	3
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding					1	1
Total	0	0	55	12	8

Variants in FAM151A

This is a list of pathogenic ClinVar variants found in the FAM151A region.

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

Position	Type	Phenotype	Significance	ClinVar
1-54609282-C-T		not specified	Uncertain significance (Sep 16, 2021)
1-54609288-C-T		not specified	Uncertain significance (Mar 07, 2025)
1-54609294-A-C		not specified	Uncertain significance (Dec 01, 2023)
1-54609332-C-T		not specified	Uncertain significance (Aug 23, 2021)
1-54609408-C-T		not specified	Uncertain significance (Aug 01, 2022)
1-54609426-G-C			Likely benign (Dec 20, 2018)
1-54609428-G-T		not specified	Uncertain significance (Jan 03, 2024)
1-54609564-C-T		not specified	Uncertain significance (Apr 20, 2024)
1-54609578-T-C		not specified	Uncertain significance (Aug 02, 2022)
1-54609609-G-C		not specified	Uncertain significance (Mar 07, 2023)
1-54609618-C-A		not specified	Uncertain significance (Jul 15, 2021)
1-54609684-A-G		not specified	Uncertain significance (Jun 12, 2023)
1-54609687-T-A		not specified	Uncertain significance (Dec 20, 2023)
1-54609689-T-C		not specified	Uncertain significance (Dec 15, 2022)
1-54609692-G-T		not specified	Uncertain significance (Feb 10, 2025)
1-54609696-C-T		not specified	Uncertain significance (Jan 24, 2025)
1-54609713-T-G		not specified	Likely benign (Apr 09, 2022)
1-54609737-C-T		not specified	Likely benign (Jun 24, 2022)
1-54609738-G-A		not specified	Uncertain significance (Mar 07, 2025)
1-54609752-A-C		not specified	Uncertain significance (Jun 17, 2024)
1-54609771-C-T		not specified	Likely benign (Aug 02, 2021)
1-54609779-G-A			Benign (Dec 22, 2020)
1-54609782-A-G		not specified	Uncertain significance (Jan 28, 2025)
1-54609807-C-T		not specified	Uncertain significance (Dec 27, 2023)
1-54609845-G-A		not specified	Uncertain significance (Oct 22, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FAM151A	protein_coding	protein_coding	ENST00000302250	8	14375

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
6.55e-17	0.00391	120546	125	5077	125748	0.0209

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.186	354	344	1.03	0.0000196	3739
Missense in Polyphen		93	84.02	1.1069		1046
Synonymous	-1.36	170	149	1.14	0.00000880	1273
Loss of Function	-0.281	24	22.6	1.06	0.00000105	238

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0388	0.0376
Ashkenazi Jewish	0.00692	0.00687
East Asian	0.000707	0.000707
Finnish	0.0699	0.0681
European (Non-Finnish)	0.0243	0.0238
Middle Eastern	0.000707	0.000707
South Asian	0.00492	0.00485
Other	0.0172	0.0169

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.966
• rvis_EVS: 1.63
• rvis_percentile_EVS: 96.05

Haploinsufficiency Scores

• pHI: 0.162
• hipred: N
• hipred_score: 0.170
• ghis: 0.392

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.121

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fam151a
• Phenotype: cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan)

Gene ontology

• Biological process: biological_process
• Cellular component: membrane;integral component of membrane;extracellular exosome
• Molecular function: molecular_function