FAM83B

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

Basic information

Region (hg38): 6:54846771-54945099

Previous symbols: [ "C6orf143" ]

Links

ENSG00000168143 ∙ NCBI:222584 ∙ ∙ HGNC:21357 ∙ Uniprot:Q5T0W9 ∙ 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 FAM83B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FAM83B gene is commonly pathogenic or not.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1	3	4
missense			77	4		81
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			1			1
Total	0	0	78	5	3

Variants in FAM83B

This is a list of pathogenic ClinVar variants found in the FAM83B region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
6-54870254-C-T		not specified	Uncertain significance (Dec 03, 2024)
6-54870361-G-C		not specified	Uncertain significance (Aug 23, 2021)
6-54870370-G-A		not specified	Uncertain significance (Sep 26, 2024)
6-54870386-T-C		not specified	Uncertain significance (Apr 18, 2023)
6-54870468-C-A		not specified	Uncertain significance (Jan 23, 2023)
6-54870472-G-A		not specified	Uncertain significance (Jan 16, 2024)
6-54870485-A-T		not specified	Uncertain significance (Feb 08, 2025)
6-54870488-A-T		not specified	Uncertain significance (Dec 15, 2024)
6-54870500-A-G		not specified	Uncertain significance (Jan 08, 2025)
6-54870566-G-T		not specified	Uncertain significance (Oct 09, 2024)
6-54870572-C-G		not specified	Uncertain significance (Jan 02, 2025)
6-54870583-C-T		not specified	Uncertain significance (May 29, 2024)
6-54870585-C-T			Benign (May 09, 2018)
6-54870595-G-A		not specified	Uncertain significance (Dec 09, 2023)
6-54870599-G-A		not specified	Uncertain significance (Jun 29, 2023)
6-54870647-C-T		not specified	Uncertain significance (May 23, 2023)
6-54870672-G-T		not specified	Uncertain significance (May 25, 2022)
6-54926362-A-G			Uncertain significance (Sep 06, 2023)
6-54926424-C-T			Benign (May 14, 2018)
6-54926470-G-A		not specified	Uncertain significance (Sep 22, 2023)
6-54926516-G-T		not specified	Uncertain significance (Jul 27, 2021)
6-54926527-C-T		not specified	Uncertain significance (Aug 13, 2021)
6-54926528-G-A		not specified	Uncertain significance (Jun 13, 2023)
6-54927562-A-C		not specified	Uncertain significance (Jan 14, 2025)
6-54927569-A-G		not specified	Uncertain significance (Feb 19, 2025)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FAM83B	protein_coding	protein_coding	ENST00000306858	4	95252

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
6.33e-8	1.00	125664	0	74	125738	0.000294

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.354	559	536	1.04	0.0000278	6640
Missense in Polyphen		131	156.94	0.83469		1900
Synonymous	-0.634	203	192	1.06	0.00000959	1939
Loss of Function	3.18	19	41.0	0.463	0.00000271	487

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000727	0.000725
Ashkenazi Jewish	0.00	0.00
East Asian	0.000163	0.000163
Finnish	0.000417	0.000416
European (Non-Finnish)	0.000248	0.000246
Middle Eastern	0.000163	0.000163
South Asian	0.000429	0.000425
Other	0.000655	0.000652

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Probable proto-oncogene that functions in the epidermal growth factor receptor/EGFR signaling pathway. May activate both the EGFR itself and downstream RAS/MAPK and PI3K/AKT/TOR signaling cascades. {ECO:0000269|PubMed:22886302, ECO:0000269|PubMed:23676467, ECO:0000269|PubMed:23912460}.

Intolerance Scores

• loftool: 0.765
• rvis_EVS: -0.48
• rvis_percentile_EVS: 22.82

Haploinsufficiency Scores

• pHI: 0.0792
• hipred: N
• hipred_score: 0.400
• ghis: 0.537

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.301

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fam83b

Gene ontology

• Biological process: epidermal growth factor receptor signaling pathway;cell population proliferation
• Cellular component: cytoplasm;membrane
• Molecular function: phospholipase D activity;epidermal growth factor receptor binding;protein kinase binding;phosphatidylinositol 3-kinase regulatory subunit binding;phosphatidylinositol 3-kinase catalytic subunit binding