FAM186B

family with sequence similarity 186 member B

Basic information

Region (hg38): 12:49582885-49605639

Previous symbols: [ "C12orf25" ]

Links

ENSG00000135436 ∙ NCBI:84070 ∙ ∙ HGNC:25296 ∙ Uniprot:Q8IYM0 ∙ 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 FAM186B gene.

• not_specified (109 variants)
• not_provided (78 variants)
• Nephronophthisis (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FAM186B gene is commonly pathogenic or not. These statistics are base on transcript: NM_000032130.3. 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			1	12	4	17
missense			109	20	12	141
nonsense			4			4
start loss						0
frameshift			3	1		4
splice donor/acceptor (+/-2bp)		1				1
Total	0	1	117	33	16

Highest pathogenic variant AF is 0.00001874407

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FAM186B	protein_coding	protein_coding	ENST00000257894	7	22755

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
5.51e-24	0.00133	125702	0	46	125748	0.000183

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.796	449	499	0.900	0.0000274	5863
Missense in Polyphen		98	123.36	0.79442		1736
Synonymous	2.84	146	197	0.742	0.0000105	1724
Loss of Function	0.325	37	39.2	0.944	0.00000201	435

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000308	0.000308
Ashkenazi Jewish	0.00	0.00
East Asian	0.00114	0.00114
Finnish	0.00	0.00
European (Non-Finnish)	0.000129	0.000123
Middle Eastern	0.00114	0.00114
South Asian	0.000215	0.000196
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.989
• rvis_EVS: 1.41
• rvis_percentile_EVS: 94.8

Haploinsufficiency Scores

• pHI: 0.0639
• hipred: N
• hipred_score: 0.112
• ghis: 0.408

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0153

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fam186b
• Phenotype: homeostasis/metabolism phenotype

Gene ontology

• Cellular component: protein-containing complex