FAM133B

family with sequence similarity 133 member B

Basic information

Region (hg38): 7:92560758-92590393

Links

ENSG00000234545 ∙ NCBI:257415 ∙ ∙ HGNC:28629 ∙ Uniprot:Q5BKY9 ∙ 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 FAM133B gene.

• not_specified (21 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FAM133B gene is commonly pathogenic or not. These statistics are base on transcript: NM_000152789.4. 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			21			21
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	21	0	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FAM133B	protein_coding	protein_coding	ENST00000445716	11	29602

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000715	0.982	124619	0	17	124636	0.0000682

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.892	74	99.0	0.748	0.00000481	1598
Missense in Polyphen		2	4.8776	0.41004		67
Synonymous	-0.878	38	31.7	1.20	0.00000144	393
Loss of Function	2.11	8	17.5	0.457	9.88e-7	266

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000157	0.000156
Ashkenazi Jewish	0.000201	0.000199
East Asian	0.0000569	0.0000556
Finnish	0.00	0.00
European (Non-Finnish)	0.0000802	0.0000796
Middle Eastern	0.0000569	0.0000556
South Asian	0.00	0.00
Other	0.000166	0.000165

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.804
• rvis_EVS: 0.06
• rvis_percentile_EVS: 58

Haploinsufficiency Scores

• pHI: 0.103
• hipred: N
• hipred_score: 0.339
• ghis: 0.635

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: H
• gene_indispensability_pred: N
• gene_indispensability_score: 0.404

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fam133b

Gene ontology

• Molecular function: RNA binding