FAM86B1

family with sequence similarity 86 member B1

Basic information

Region (hg38): 8:12182095-12194133

Links

ENSG00000186523 ∙ NCBI:85002 ∙ OMIM:616122 ∙ HGNC:28268 ∙ Uniprot:Q8N7N1 ∙ 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 FAM86B1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FAM86B1 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		1
missense			37	7		44
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	37	8	0

Variants in FAM86B1

This is a list of pathogenic ClinVar variants found in the FAM86B1 region.

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

Position	Type	Phenotype	Significance	ClinVar
8-12183621-C-T			Likely benign (Sep 01, 2022)
8-12183630-C-T		not specified	Uncertain significance (Mar 27, 2023)
8-12183669-A-C		not specified	Uncertain significance (Jun 06, 2022)
8-12183673-T-G		not specified	Uncertain significance (Jan 03, 2024)
8-12185382-C-T		not specified	Uncertain significance (Oct 12, 2021)
8-12185402-G-A		not specified	Uncertain significance (May 17, 2023)
8-12185406-C-G		not specified	Uncertain significance (Dec 08, 2023)
8-12185414-C-T		not specified	Uncertain significance (Dec 08, 2023)
8-12185435-A-G		not specified	Likely benign (Apr 24, 2024)
8-12185448-G-A		not specified	Uncertain significance (Aug 01, 2022)
8-12185459-C-T		not specified	Likely benign (Sep 01, 2021)
8-12185469-C-G		not specified	Uncertain significance (Aug 30, 2022)
8-12185477-T-C		not specified	Likely benign (Jan 07, 2022)
8-12185484-C-A		not specified	Uncertain significance (Nov 07, 2022)
8-12185487-C-T		not specified	Uncertain significance (Oct 05, 2021)
8-12185490-C-T		not specified	Uncertain significance (Feb 22, 2023)
8-12186372-G-A		not specified	Uncertain significance (Jun 04, 2024)
8-12186381-G-A		not specified	Uncertain significance (Jul 14, 2021)
8-12186389-C-G		not specified	Uncertain significance (Dec 13, 2022)
8-12186396-A-G		not specified	Likely benign (Feb 21, 2024)
8-12186409-C-T		not specified	Uncertain significance (Aug 11, 2022)
8-12186423-G-A		not specified	Uncertain significance (Aug 01, 2022)
8-12186443-G-T		not specified	Likely benign (Mar 31, 2022)
8-12186519-C-T		not specified	Uncertain significance (May 04, 2023)
8-12186528-G-C		not specified	Uncertain significance (Dec 19, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FAM86B1	protein_coding	protein_coding	ENST00000448228	7	12038

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.82e-7	0.113	125089	1	51	125141	0.000208

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-2.17	169	106	1.59	0.00000591	1756
Missense in Polyphen		34	19.852	1.7127		331
Synonymous	-1.97	63	46.0	1.37	0.00000273	565
Loss of Function	-0.492	9	7.54	1.19	4.06e-7	143

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00201	0.00195
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000995	0.0000974
Middle Eastern	0.00	0.00
South Asian	0.0000327	0.0000327
Other	0.000673	0.000492

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.255

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0386

Gene Damage Prediction

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

Gene ontology

• Biological process: methylation
• Molecular function: methyltransferase activity