FAM110B

family with sequence similarity 110 member B

Basic information

Region (hg38): 8:57994523-58204279

Previous symbols: [ "C8orf72" ]

Links

ENSG00000169122 ∙ NCBI:90362 ∙ OMIM:611394 ∙ HGNC:28587 ∙ Uniprot:Q8TC76 ∙ 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 FAM110B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FAM110B 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			15			15
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	15	0	0

Variants in FAM110B

This is a list of pathogenic ClinVar variants found in the FAM110B region.

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

Position	Type	Phenotype	Significance	ClinVar
8-58146330-C-G		not specified	Uncertain significance (Feb 28, 2024)
8-58146462-G-T		not specified	Uncertain significance (Jun 11, 2021)
8-58146480-C-T		not specified	Uncertain significance (May 24, 2023)
8-58146481-C-T		not specified	Uncertain significance (May 04, 2023)
8-58146549-A-T		not specified	Uncertain significance (May 13, 2024)
8-58146655-G-A		not specified	Uncertain significance (Sep 16, 2021)
8-58146673-G-A		not specified	Uncertain significance (Jan 27, 2022)
8-58146696-C-T		not specified	Uncertain significance (Aug 22, 2022)
8-58146708-G-C		not specified	Uncertain significance (May 15, 2024)
8-58146715-C-G		not specified	Uncertain significance (Jun 07, 2024)
8-58146741-C-T		not specified	Uncertain significance (Sep 09, 2024)
8-58146794-G-C		not specified	Uncertain significance (Dec 03, 2021)
8-58146801-G-A		not specified	Uncertain significance (Aug 12, 2021)
8-58146814-A-C		not specified	Uncertain significance (Nov 08, 2022)
8-58146841-G-T		not specified	Uncertain significance (Aug 04, 2023)
8-58146870-G-A		not specified	Uncertain significance (Aug 28, 2024)
8-58147128-A-G		not specified	Uncertain significance (May 24, 2023)
8-58147142-A-G		not specified	Uncertain significance (Sep 30, 2024)
8-58147182-T-G		not specified	Uncertain significance (Sep 14, 2023)
8-58147329-G-T		not specified	Uncertain significance (Dec 21, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FAM110B	protein_coding	protein_coding	ENST00000361488	1	209771

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.364	0.625	125742	0	3	125745	0.0000119

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.47	183	248	0.738	0.0000168	2425
Missense in Polyphen		40	71.416	0.5601		761
Synonymous	0.497	110	117	0.942	0.00000926	765
Loss of Function	2.15	2	8.92	0.224	5.62e-7	106

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000578	0.0000578
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000551	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.0000551	0.0000544
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in tumor progression.

Recessive Scores

• pRec: 0.108

Intolerance Scores

• rvis_EVS: -0.27
• rvis_percentile_EVS: 34.32

Haploinsufficiency Scores

• pHI: 0.168
• hipred: Y
• hipred_score: 0.546
• ghis: 0.586

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.200

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fam110b
• Phenotype: immune system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); hematopoietic system phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); homeostasis/metabolism phenotype

Gene ontology

• Cellular component: mitochondrion;microtubule organizing center;cytosol