FAM83G

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		1
missense			77 clinvar	7 clinvar	1 clinvar	85
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	77	8	1	86

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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

BMP signaling pathway

Molecular Function

protein binding

Cellular Component

nucleus
cytosol

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000388995
Coding exons: 5
Length: 36016
Individuals with no LoFs: 124780
Homozygous LoFs: 0
Heterozygous LoFs: 44
Defined: 124824
p: 0.000176

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.40	441	532	0.830	0.0000339	5330
Missense (PolyPhen)		129	186.68	0.69104		1928
Synonymous	1.02	213	233	0.915	0.0000160	1731
Loss of Function	2.66	12	26.9	0.446	0.00000138	279

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.00027	0.00023	rare
Ashkenazi Jewish	0.00011	0.000099	rare
East Asian	0.000056	0.000056	rare
Finnish	0.00024	0.00023	rare
European (Non-Finnish)	0.00023	0.00022	rare
South Asian	0.00014	0.00013	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May regulate the bone morphogenetic proteins (BMP) pathway. {ECO:0000269|PubMed:24554596}.;

Intolerance Scores

LoFtool: 0.649
RVIS EVS: -0.04
RVIS percentile EVS: 50.52

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Indispensability pred.: E
Indispensability score: 0.509

Gene Damage Prediction

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