FAM168B

family with sequence similarity 168 member B

Basic information

Region (hg38): 2:131047875-131093460

Links

ENSG00000152102 ∙ NCBI:130074 ∙ OMIM:620078 ∙ HGNC:27016 ∙ Uniprot:A1KXE4 ∙ 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 FAM168B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FAM168B gene is commonly pathogenic or not.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			6			6
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	6	0	0

Variants in FAM168B

This is a list of pathogenic ClinVar variants found in the FAM168B region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
2-131052937-G-A		not specified	Uncertain significance (Mar 12, 2024)
2-131053010-G-T		Myoepithelial tumor	Uncertain significance (Nov 01, 2022)
2-131055335-G-C		not specified	Uncertain significance (Apr 11, 2023)
2-131055388-G-A		not specified	Uncertain significance (Jul 31, 2023)
2-131055563-G-A		not specified	Uncertain significance (Jul 13, 2021)
2-131055566-C-A		not specified	Uncertain significance (Apr 15, 2024)
2-131055581-G-A		not specified	Uncertain significance (Mar 30, 2024)
2-131071859-T-A		not specified	Uncertain significance (Jun 09, 2022)
2-131071894-G-C		not specified	Uncertain significance (Apr 19, 2023)
2-131082624-C-T		not specified	Uncertain significance (Mar 29, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FAM168B	protein_coding	protein_coding	ENST00000409185	5	45585

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0157	0.890	124697	0	6	124703	0.0000241

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.27	72	109	0.658	0.00000588	1201
Missense in Polyphen		24	43.84	0.54745		481
Synonymous	-1.62	61	46.9	1.30	0.00000318	423
Loss of Function	1.40	4	8.39	0.477	3.55e-7	107

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000293	0.0000293
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000269	0.0000265
Middle Eastern	0.00	0.00
South Asian	0.0000712	0.0000654
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Inhibitor of neuronal axonal outgrowth. Acts as a negative regulator of CDC42 and STAT3 and a positive regulator of STMN2. Positive regulator of CDC27. {ECO:0000250|UniProtKB:D4AEP3}.

Intolerance Scores

• loftool: 0.381
• rvis_EVS: -0.19
• rvis_percentile_EVS: 39.68

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.462
• ghis: 0.592

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.640

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fam168b

Gene ontology

• Cellular component: plasma membrane;integral component of membrane;axon;perinuclear region of cytoplasm;extracellular exosome