FAM118B

family with sequence similarity 118 member B

Basic information

Region (hg38): 11:126211724-126262984

Links

ENSG00000197798 ∙ NCBI:79607 ∙ OMIM:616587 ∙ HGNC:26110 ∙ Uniprot:Q9BPY3 ∙ 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 FAM118B gene.

• not_specified (34 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FAM118B gene is commonly pathogenic or not. These statistics are base on transcript: NM_000024556.4. 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			33	1		34
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	33	1	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FAM118B	protein_coding	protein_coding	ENST00000533050	7	51573

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0193	0.977	125722	0	25	125747	0.0000994

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.965	154	192	0.804	0.0000100	2309
Missense in Polyphen		66	88.881	0.74256		1104
Synonymous	1.10	63	75.1	0.839	0.00000433	666
Loss of Function	2.55	6	17.5	0.342	0.00000104	202

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000298	0.000298
Ashkenazi Jewish	0.00	0.00
East Asian	0.000217	0.000109
Finnish	0.0000925	0.0000924
European (Non-Finnish)	0.0000617	0.0000615
Middle Eastern	0.000217	0.000109
South Asian	0.000197	0.000196
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May play a role in Cajal bodies formation. {ECO:0000269|PubMed:24569877}.

Recessive Scores

• pRec: 0.107

Intolerance Scores

• loftool: 0.797
• rvis_EVS: -0.45
• rvis_percentile_EVS: 24.19

Haploinsufficiency Scores

• pHI: 0.212
• hipred: Y
• hipred_score: 0.530
• ghis: 0.561

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.843

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fam118b

Gene ontology

• Biological process: Cajal body organization
• Cellular component: Cajal body
• Molecular function: protein binding