FAM83A

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						0
missense			35 clinvar	2 clinvar		37
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	35	2	0	37

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 0 of 0 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
No transcripts match your selected source or search query.

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

epidermal growth factor receptor signaling pathway
cell population proliferation

Molecular Function

protein binding
protein kinase binding
phosphatidylinositol 3-kinase regulatory subunit binding

Cellular Component

cytoplasm

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000518448
Coding exons: 4
Length: 31115
Individuals with no LoFs: 124316
Homozygous LoFs: 3
Heterozygous LoFs: 1429
Defined: 125748
p: 0.00571

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.483	251	273	0.918	0.0000182	2776
Missense (PolyPhen)		95	85.749	1.1079		913
Synonymous	0.866	113	125	0.902	0.00000888	931
Loss of Function	0.491	11	12.9	0.852	5.48e-7	155

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0021	0.0020	notable
Latino/Admixed American	0.0074	0.0074	notable
Ashkenazi Jewish	0.010	0.010	notable
East Asian	0.00016	0.00016	rare
Finnish	0.0057	0.0052	notable
European (Non-Finnish)	0.0077	0.0074	notable
South Asian	0.0015	0.0015	notable
Other	0.0075	0.0072	notable

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Probable proto-oncogene that functions in the epidermal growth factor receptor/EGFR signaling pathway. Activates both RAS/MAPK and PI3K/AKT/TOR signaling cascades downstream of EGFR. Required for the RAS/MAPK signaling cascade activation upon EGFR stimulation, it also activates both signaling cascades independently of EGFR activation. {ECO:0000269|PubMed:22886303}.;

Recessive Scores

pRec: 0.125

Intolerance Scores

LoFtool: 0.862
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: 0.552

Gene Damage Prediction

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