FAM83G

family with sequence similarity 83 member G, the group of Family with sequence similarity 83

Basic information

Region (hg38): 17:18968789-19004764

Links

ENSG00000188522 ∙ NCBI:644815 ∙ OMIM:615886 ∙ HGNC:32554 ∙ Uniprot:A6ND36 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the FAM83G gene.

• not_specified (139 variants)
• not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FAM83G gene is commonly pathogenic or not. These statistics are base on transcript: NM_001039999.3. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1		1
missense			123	11	1	135
nonsense			1			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1			1
Total	0	0	125	12	1

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FAM83G	protein_coding	protein_coding	ENST00000388995	5	36016

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000332	0.998	124780	0	44	124824	0.000176

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.40	441	532	0.830	0.0000339	5330
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000273	0.000273
Ashkenazi Jewish	0.000106	0.0000993
East Asian	0.0000557	0.0000556
Finnish	0.000241	0.000232
European (Non-Finnish)	0.000235	0.000221
Middle Eastern	0.0000557	0.0000556
South Asian	0.000136	0.000131
Other	0.00	0.00

dbNSFP

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

Haploinsufficiency Scores

• pHI: 0.0699
• hipred: Y
• hipred_score: 0.646
• ghis: 0.546

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.509

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fam83g
• Phenotype: skeleton phenotype; immune system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); growth/size/body region phenotype; hematopoietic system phenotype

Gene ontology

• Biological process: BMP signaling pathway
• Cellular component: nucleus;cytosol
• Molecular function: protein binding