FAM151A

protein-coding

family with sequence similarity 151 member A

Gene summary

Located in extracellular exosome. Implicated in colorectal adenocarcinoma. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

C1orf179

MANE transcript

NM_176782.3

Inheritance

—

ClinVar variants

U:105B:19

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1.06

Max pathogenic AF

—

Genomic locus

chr1:54,609,181-54,623,556

External References & Databases

Ensembl (ENSG00000162391)

Transcript & Mutation Effects

hg38 • Region Span ~14.4 kb

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GenCC 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 FAM151A variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 106

not providedTotal: 10

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_176782.3. 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					2 clinvar	2
missense			102 clinvar	12 clinvar	2 clinvar	116
nonsense			1 clinvar		1 clinvar	2
start loss						0
frameshift				2 clinvar		2
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	105	14	5	124

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 12 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_176782.3	RefSeq	NP_788954.2	8	MANE Select
ENST00000302250.7	Ensembl	ENSP00000306888.2	8	MANE Select
ENST00000371304.2	Ensembl	ENSP00000360353.2	7	Standard
ENST00000877511.1	Ensembl	ENSP00000547570.1	8	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

biological_process

Molecular Function

molecular_function

Cellular Component

membrane
integral component of membrane
extracellular exosome

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000302250
Coding exons: 8
Length: 14375
Individuals with no LoFs: 120546
Homozygous LoFs: 125
Heterozygous LoFs: 5077
Defined: 125748
p: 0.0209

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.186	354	344	1.03	0.0000196	3739
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0.030	0.029	notable
Latino/Admixed American	0.0091	0.0090	notable
Ashkenazi Jewish	0.0069	0.0069	notable
East Asian	0.00071	0.00071	rare
Finnish	0.070	0.068	notable
European (Non-Finnish)	0.024	0.024	notable
South Asian	0.0049	0.0048	notable
Other	0.017	0.017	notable

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

LoFtool: 0.966
RVIS EVS: 1.63
RVIS percentile EVS: 96.05

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.121

Gene Damage Prediction

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