FAM86B1

protein-coding

family with sequence similarity 86 member B1

Gene summary

Predicted to enable protein-lysine N-methyltransferase activity. Predicted to be involved in methylation. Predicted to be part of protein-containing complex. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_001083537.4

Inheritance

—

ClinVar variants

U:93B:10

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1.19

Max pathogenic AF

—

Genomic locus

chr8:12,182,096-12,194,133

External References & Databases

Ensembl (ENSG00000186523)

Transcript & Mutation Effects

hg38 • Region Span ~12.0 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to FAM86B1 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 101

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001083537.4. Only rare variants are included.

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			93 clinvar	9 clinvar		102
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	93	10	0	103

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 84 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001083537.4	RefSeq	NP_001077006.1	7	MANE Select
ENST00000448228.7	Ensembl	ENSP00000407067.2	7	MANE Select
ENST00000340537.9	Ensembl	ENSP00000342610.4	5	Standard
ENST00000431227.7	Ensembl	ENSP00000444227.2	3	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

methylation

Molecular Function

methyltransferase activity

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000448228
Coding exons: 7
Length: 12038
Individuals with no LoFs: 125089
Homozygous LoFs: 1
Heterozygous LoFs: 51
Defined: 125141
p: 0.000208

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-2.17	169	106	1.59	0.00000591	1756
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0017	0.0016	notable
Latino/Admixed American	0.00032	0.00032	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.00010	0.000097	rare
South Asian	0.000033	0.000033	rare
Other	0.00067	0.00049	rare

dbNSFP Gene Annotations

Source: dbNSFP

Essentials

Essential (CRISPR): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.0386

Gene Damage Prediction

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