FAM131C

Gene

family with sequence similarity 131 member C

Gene summary

No gene description available in the current model. Review primary literature for detailed gene function and characteristics.

Previous symbols:

C1orf117

MANE transcript

NM_182623.3

Inheritance

—

ClinVar variants

U:50B:5

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.42

Max pathogenic AF

—

Genomic locus

chr1:16,057,769-16,073,651

External References & Databases

Ensembl (ENSG00000185519)

Transcript & Mutation Effects

hg38 • Region Span ~15.9 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 FAM131C variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 52

not providedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_182623.3. 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			1 clinvar	2 clinvar		3
missense			49 clinvar	3 clinvar		52
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	50	5	0	55

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_182623.3	RefSeq	NP_872429.2	7	MANE Select
ENST00000375662.5	Ensembl	ENSP00000364814.4	7	MANE Select
ENST00000904375.1	Ensembl	ENSP00000574434.1	6	Standard
ENST00000904375.2	Ensembl	ENSP00000574434.1	6	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Molecular Function

protein binding

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000375662
Coding exons: 7
Length: 15864
Individuals with no LoFs: 124651
Homozygous LoFs: 0
Heterozygous LoFs: 11
Defined: 124662
p: 0.0000441

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.195	155	148	1.04	0.00000905	1740
Missense (PolyPhen)		51	53.531	0.95272		651
Synonymous	-0.549	72	66.3	1.09	0.00000483	533
Loss of Function	1.83	5	11.8	0.424	5.77e-7	135

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00014	0.00013	rare
Latino/Admixed American	0.000030	0.000029	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.000056	0.000056	rare
Finnish	0.000048	0.000046	rare
European (Non-Finnish)	0.000030	0.000027	rare
South Asian	0.00010	0.000098	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.0885

Intolerance Scores

LoFtool: 0.632
RVIS EVS: 0.84
RVIS percentile EVS: 88.3

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.876

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High