FAM107B

family with sequence similarity 107 member B

Basic information

Region (hg38): 10:14518557-14774897

Previous symbols: [ "C10orf45" ]

Links

ENSG00000065809 ∙ NCBI:83641 ∙ ∙ HGNC:23726 ∙ Uniprot:Q9H098 ∙ 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 FAM107B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FAM107B 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					2	2
missense			9	1	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	9	1	3

Variants in FAM107B

This is a list of pathogenic ClinVar variants found in the FAM107B region.

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

Position	Type	Phenotype	Significance	ClinVar
10-14521272-T-C		not specified	Uncertain significance (Aug 12, 2021)
10-14521300-G-C			Benign (Feb 25, 2018)
10-14521925-T-G		not specified	Uncertain significance (Dec 28, 2023)
10-14521933-T-G		not specified	Uncertain significance (May 26, 2024)
10-14522001-G-T		not specified	Uncertain significance (Dec 07, 2021)
10-14530377-C-T		not specified	Uncertain significance (Jan 27, 2022)
10-14530378-G-A		not specified	Uncertain significance (Jan 23, 2023)
10-14530401-A-G		not specified	Uncertain significance (Apr 08, 2022)
10-14530491-T-C		not specified	Uncertain significance (Mar 31, 2023)
10-14530492-G-C		not specified	Uncertain significance (Dec 28, 2023)
10-14530507-G-A		not specified	Uncertain significance (May 08, 2023)
10-14667659-G-A			Benign (Mar 29, 2018)
10-14774260-G-A		not specified	Likely benign (Oct 26, 2021)
10-14774316-C-T			Benign (Dec 31, 2019)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FAM107B	protein_coding	protein_coding	ENST00000181796	5	256341

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
7.43e-8	0.283	125728	0	19	125747	0.0000756

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.554	201	180	1.12	0.0000105	2012
Missense in Polyphen		55	61.12	0.89986		822
Synonymous	-0.400	74	69.7	1.06	0.00000441	570
Loss of Function	0.483	12	13.9	0.861	7.53e-7	167

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000394	0.000394
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000443	0.0000439
Middle Eastern	0.0000544	0.0000544
South Asian	0.000163	0.000163
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0844

Intolerance Scores

• loftool: 0.665
• rvis_EVS: -0.03
• rvis_percentile_EVS: 51.92

Haploinsufficiency Scores

• pHI: 0.257
• hipred: N
• hipred_score: 0.146
• ghis: 0.419

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.344

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fam107b
• Phenotype: hearing/vestibular/ear phenotype; hematopoietic system phenotype; craniofacial phenotype; growth/size/body region 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)