FAM166B

family with sequence similarity 166 member B

Basic information

Region (hg38): 9:35561830-35563899

Links

ENSG00000215187 ∙ NCBI:730112 ∙ ∙ HGNC:34242 ∙ Uniprot:A8MTA8 ∙ 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 FAM166B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FAM166B gene is commonly pathogenic or not. These statistics are base on transcript: . 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			31	3		34
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	31	3	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FAM166B	protein_coding	protein_coding	ENST00000399742	6	2069

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
8.30e-10	0.0434	124571	0	98	124669	0.000393

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0373	145	146	0.991	0.00000791	1767
Missense in Polyphen		33	38.187	0.86417		499
Synonymous	0.682	48	54.4	0.882	0.00000281	544
Loss of Function	-0.454	13	11.3	1.15	5.51e-7	135

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00470	0.00470
Ashkenazi Jewish	0.00	0.00
East Asian	0.000117	0.000111
Finnish	0.0000464	0.0000464
European (Non-Finnish)	0.0000754	0.0000708
Middle Eastern	0.000117	0.000111
South Asian	0.000186	0.000163
Other	0.000173	0.000165

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.691
• rvis_EVS: 0.4
• rvis_percentile_EVS: 76.15

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.123

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0349

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fam166b