FAM120B

family with sequence similarity 120B, the group of MicroRNA protein coding host genes

Basic information

Region (hg38): 6:170290702-170407067

Previous symbols: [ "KIAA1838" ]

Links

ENSG00000112584 ∙ NCBI:84498 ∙ OMIM:612266 ∙ HGNC:21109 ∙ Uniprot:Q96EK7 ∙ 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 FAM120B gene.

• Inborn genetic diseases (30 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FAM120B 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						0
missense			25	5		30
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	25	5	0

Variants in FAM120B

This is a list of pathogenic ClinVar variants found in the FAM120B region.

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

Position	Type	Phenotype	Significance	ClinVar
6-170317428-C-T		not specified	Uncertain significance (Dec 27, 2023)
6-170317491-A-T		not specified	Uncertain significance (Mar 24, 2023)
6-170317527-T-C		not specified	Uncertain significance (Sep 17, 2021)
6-170317608-A-G		not specified	Uncertain significance (Oct 13, 2023)
6-170317667-G-A		not specified	Uncertain significance (Jul 28, 2021)
6-170317865-G-A		not specified	Uncertain significance (Dec 06, 2021)
6-170317877-G-A		not specified	Uncertain significance (Jul 26, 2022)
6-170317896-A-G		not specified	Uncertain significance (Dec 22, 2023)
6-170317973-G-A		not specified	Uncertain significance (Nov 08, 2022)
6-170318034-T-C		not specified	Uncertain significance (Aug 28, 2023)
6-170318087-A-G		not specified	Uncertain significance (Jan 21, 2022)
6-170318150-A-G		not specified	Uncertain significance (Jul 12, 2022)
6-170318209-A-C		not specified	Uncertain significance (Jul 12, 2022)
6-170318349-G-A		not specified	Uncertain significance (Jul 29, 2023)
6-170318393-G-A		not specified	Uncertain significance (Jul 21, 2021)
6-170318396-G-A		not specified	Uncertain significance (Nov 17, 2022)
6-170318457-G-T		not specified	Uncertain significance (Jun 22, 2021)
6-170318498-G-A		not specified	Uncertain significance (Jan 29, 2024)
6-170318501-T-C		not specified	Likely benign (Jun 30, 2023)
6-170318543-C-T		not specified	Likely benign (Nov 08, 2021)
6-170318599-G-A		not specified	Uncertain significance (Feb 16, 2023)
6-170318649-A-T		not specified	Uncertain significance (Jan 31, 2024)
6-170318670-T-C		not specified	Uncertain significance (Jan 23, 2024)
6-170318717-T-C			Likely benign (Feb 01, 2024)
6-170318747-A-G		not specified	Uncertain significance (Oct 25, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FAM120B	protein_coding	protein_coding	ENST00000476287	9	116363

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
7.47e-11	0.999	125513	92	143	125748	0.000935

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.675	453	495	0.915	0.0000261	5922
Missense in Polyphen		107	156.64	0.68311		1908
Synonymous	-0.904	203	187	1.08	0.0000110	1722
Loss of Function	2.90	24	45.0	0.533	0.00000271	503

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0222	0.00727
Ashkenazi Jewish	0.00	0.00
East Asian	0.000598	0.000598
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000725	0.000695
Middle Eastern	0.000598	0.000598
South Asian	0.000359	0.000359
Other	0.00179	0.00130

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Functions as a transactivator of PPARG and ESR1. Functions in adipogenesis through PPARG activation (By similarity). {ECO:0000250}.
• Pathway: Developmental Biology;Transcriptional regulation of white adipocyte differentiation;RXR and RAR heterodimerization with other nuclear receptor (Consensus)

Recessive Scores

• pRec: 0.0832

Intolerance Scores

• loftool: 0.909
• rvis_EVS: 1.18
• rvis_percentile_EVS: 92.8

Haploinsufficiency Scores

• pHI: 0.0927
• hipred: N
• hipred_score: 0.243
• ghis: 0.457

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.473

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fam120b

Gene ontology

• Biological process: peroxisome proliferator activated receptor signaling pathway;fat cell differentiation
• Cellular component: nucleus
• Molecular function: protein binding