FAM151B

family with sequence similarity 151 member B

Basic information

Region (hg38): 5:80487969-80542563

Links

ENSG00000152380 ∙ NCBI:167555 ∙ ∙ HGNC:33716 ∙ Uniprot:Q6UXP7 ∙ 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 FAM151B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FAM151B 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			10	1		11
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	10	1	0

Variants in FAM151B

This is a list of pathogenic ClinVar variants found in the FAM151B region.

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

Position	Type	Phenotype	Significance	ClinVar
5-80488134-C-G		not specified	Uncertain significance (Jan 23, 2025)
5-80501843-C-T		not specified	Uncertain significance (Jul 21, 2021)
5-80501890-A-G		not specified	Uncertain significance (Jul 21, 2021)
5-80513669-A-G		not specified	Uncertain significance (Oct 03, 2024)
5-80513729-G-A		not specified	Uncertain significance (Aug 19, 2024)
5-80513767-A-T		not specified	Uncertain significance (Nov 07, 2024)
5-80519787-C-G		not specified	Uncertain significance (Jan 09, 2025)
5-80519835-G-A		not specified	Uncertain significance (Mar 25, 2024)
5-80519838-A-T		not specified	Uncertain significance (Sep 12, 2023)
5-80522039-T-C		not specified	Uncertain significance (Oct 21, 2024)
5-80522040-A-G		not specified	Uncertain significance (Aug 17, 2021)
5-80541716-G-A		not specified	Likely benign (Jan 22, 2024)
5-80541810-T-A		not specified	Uncertain significance (Aug 05, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FAM151B	protein_coding	protein_coding	ENST00000282226	6	54595

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.90e-8	0.202	125648	0	97	125745	0.000386

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.762	120	146	0.822	0.00000702	1837
Missense in Polyphen		42	47.82	0.8783		582
Synonymous	0.715	45	51.5	0.873	0.00000281	493
Loss of Function	0.286	12	13.1	0.915	5.55e-7	165

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000584	0.000582
Ashkenazi Jewish	0.0000993	0.0000992
East Asian	0.000272	0.000272
Finnish	0.0000463	0.0000462
European (Non-Finnish)	0.000585	0.000580
Middle Eastern	0.000272	0.000272
South Asian	0.000170	0.000163
Other	0.000661	0.000652

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.813
• rvis_EVS: 0.04
• rvis_percentile_EVS: 56.92

Haploinsufficiency Scores

• pHI: 0.0951
• hipred: N
• hipred_score: 0.197
• ghis: 0.390

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0365

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fam151b
• Phenotype: vision/eye phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); pigmentation phenotype

Gene ontology

• Molecular function: protein binding