FAM107B

protein-coding

family with sequence similarity 107 member B

Gene summary

Predicted to act upstream of or within sensory perception of sound. Located in nucleoplasm. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

C10orf45

MANE transcript

NM_031453.4

Inheritance

—

ClinVar variants

U:24B:4

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.86

Max pathogenic AF

—

Genomic locus

chr10:14,518,557-14,774,897

External References & Databases

Ensembl (ENSG00000065809)

Transcript & Mutation Effects

hg38 • Region Span ~256.3 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to FAM107B variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 21

not providedTotal: 3

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_031453.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar		2 clinvar	3
missense			22 clinvar	1 clinvar	1 clinvar	24
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	24	1	3	28

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 61 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_031453.4	RefSeq	NP_113641.2	5	MANE Select
ENST00000181796.7	Ensembl	ENSP00000181796.2	5	MANE Select
NM_001282695.2	RefSeq	NP_001269624.1	3	Standard
NM_001282696.2	RefSeq	NP_001269625.1	3	Standard

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000181796
Coding exons: 5
Length: 256341
Individuals with no LoFs: 125728
Homozygous LoFs: 0
Heterozygous LoFs: 19
Defined: 125747
p: 0.0000756

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.554	201	180	1.12	0.0000105	2012
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00031	0.00031	rare
Latino/Admixed American	0.000087	0.000087	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.000054	0.000054	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.000044	0.000044	rare
South Asian	0.00016	0.00016	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.0844

Intolerance Scores

LoFtool: 0.665
RVIS EVS: -0.03
RVIS percentile EVS: 51.92

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.344

Gene Damage Prediction

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