FSCB

protein-coding

fibrous sheath CABYR binding protein

Gene summary

Predicted to enable calcium ion binding activity. Predicted to be involved in negative regulation of protein sumoylation. Predicted to be located in motile cilium. Predicted to be active in sperm fibrous sheath and sperm principal piece. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

C14orf155

MANE transcript

NM_032135.4

Inheritance

—

ClinVar variants

U:132B:19

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e —

Max pathogenic AF

—

Genomic locus

chr14:44,504,149-44,507,283

External References & Databases

Ensembl (ENSG00000189139)

Transcript & Mutation Effects

hg38 • Region Span ~3.1 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

Tourette syndromeLIMITED

Inheritance Pattern: Unknown

Disease ID:MONDO:0007661

Submitter: Labcorp Genetics (formerly Invitae)

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to FSCB variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 147

not providedTotal: 9

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_032135.4. 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				2 clinvar	1 clinvar	3
missense			132 clinvar	13 clinvar		145
nonsense				1 clinvar		1
start loss						0
frameshift				2 clinvar		2
splice donor/acceptor (+/-2bp)						0
Total	0	0	132	18	1	151

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 2 of 2 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_032135.4	RefSeq	NP_115511.3	1	MANE Select
ENST00000340446.5	Ensembl	ENSP00000344579.4	1	MANE Select

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

negative regulation of protein sumoylation

Cellular Component

motile cilium

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000340446
Coding exons: 1
Length: 2938

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.830	456	409	1.12	0.0000197	5250
Missense (PolyPhen)		71	52.382	1.3554		771
Synonymous	-0.0129	149	149	1.00	0.00000752	1787
Loss of Function

Population LoF Frequency

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

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May be involved in the later stages of fibrous sheath biogenesis and spermatozoa capacitation. Inhibits ROPN1 and ROPN1L SUMOylation. Binds calcium. {ECO:0000250|UniProtKB:A1EGX6}.;

Recessive Scores

pRec: 0.0673

Intolerance Scores

LoFtool: 0.969
RVIS EVS: 1.98
RVIS percentile EVS: 97.63

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.111

Gene Damage Prediction

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