FAM86B1

family with sequence similarity 86 member B1

Basic information

Region (hg38): 8:12182096-12194133

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.

• not_specified (92 variants)
• not_provided (1 variants)

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. These statistics are base on transcript: NM_001083537.4. 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			83	9		92
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	83	10	0

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