FAM86B2

family with sequence similarity 86 member B2

Basic information

Region (hg38): 8:12424411-12436406

Links

ENSG00000145002 ∙ NCBI:653333 ∙ OMIM:616123 ∙ HGNC:32222 ∙ Uniprot:P0C5J1 ∙ 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 FAM86B2 gene.

• not_specified (73 variants)
• not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FAM86B2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001137610.3. 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						0
missense			66	7	1	74
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	66	7	1

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FAM86B2	protein_coding	protein_coding	ENST00000262365	8	11003

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000481	0.245	124368	0	10	124378	0.0000402

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-2.39	169	101	1.67	0.00000603	1976
Missense in Polyphen		52	30.489	1.7056		719
Synonymous	-2.15	61	43.1	1.42	0.00000264	627
Loss of Function	-0.0515	8	7.84	1.02	4.06e-7	170

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000158	0.000155
Ashkenazi Jewish	0.00	0.00
East Asian	0.000114	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.0000362	0.0000356
Middle Eastern	0.000114	0.000109
South Asian	0.0000335	0.0000331
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.102

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.255
• ghis: 0.419

Essentials

• essential_gene_CRISPR: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0353

Gene Damage Prediction

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

Gene ontology

• Biological process: biological_process;methylation
• Cellular component: protein-containing complex
• Molecular function: protein binding;methyltransferase activity