FAM193A

protein-coding

family with sequence similarity 193 member A

Gene summary

Involved in positive regulation of signal transduction by p53 class mediator. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

C4orf8

MANE transcript

NM_001366318.2

Inheritance

—

ClinVar variants

U:177B:5

Top phenotype

EBV-positive nodal T- and NK-cell lymphoma

gnomAD constraint

pLI —, LoF o/e 0.1

Max pathogenic AF

—

Genomic locus

chr4:2,536,647-2,732,573

External References & Databases

Ensembl (ENSG00000125386)

Transcript & Mutation Effects

hg38 • Region Span ~195.9 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 FAM193A variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 165

not providedTotal: 3

EBV-positive nodal T- and NK-cell lymphomaTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001366318.2. 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			3 clinvar	1 clinvar		4
missense			171 clinvar	3 clinvar	1 clinvar	175
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			3 clinvar			3
Total	0	0	177	4	1	182

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 39 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001366318.2	RefSeq	NP_001353247.1	21	MANE Select
ENST00000637812.2	Ensembl	ENSP00000490564.1	21	MANE Select
NM_001256666.2	RefSeq	NP_001243595.1	18	Standard
NM_001256667.2	RefSeq	NP_001243596.1	18	Standard

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000324666
Coding exons: 18
Length: 107305
Individuals with no LoFs: 125483
Homozygous LoFs: 0
Heterozygous LoFs: 264
Defined: 125747
p: 0.00105

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.905	647	715	0.905	0.0000405	8361
Missense (PolyPhen)		322	378.46	0.85082		4438
Synonymous	-1.64	330	294	1.12	0.0000190	2415
Loss of Function	5.85	5	49.3	0.101	0.00000227	633

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00038	0.00037	rare
Latino/Admixed American	0.000095	0.000087	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00040	0.00038	rare
Finnish	0.0074	0.0062	notable
European (Non-Finnish)	0.0010	0.00097	notable
South Asian	0.000068	0.000065	rare
Other	0.00036	0.00033	rare

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.0877

Intolerance Scores

LoFtool: 0.161
RVIS EVS: 0.19
RVIS percentile EVS: 66.32

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.114

Gene Damage Prediction

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