TSGA10IP

protein-coding

testis specific 10 interacting protein

Gene summary

Predicted to be involved in cilium organization. Predicted to be located in cytoskeleton. Predicted to be active in photoreceptor connecting cilium. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_152762.3

Inheritance

—

ClinVar variants

U:101B:8

Top phenotype

—

Max pathogenic AF

—

Genomic locus

chr11:65,945,480-65,959,966

External References & Databases

Ensembl (ENSG00000175513)

Transcript & Mutation Effects

hg38 • Region Span ~14.5 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 TSGA10IP variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 109

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_152762.3. 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						0
missense			101 clinvar	8 clinvar		109
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	101	8	0	109

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 12 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_152762.3	RefSeq	NP_689975.2	8	MANE Select
ENST00000532620.6	Ensembl	ENSP00000484252.1	8	MANE Select
NM_001395491.1	RefSeq	NP_001382420.1	8	Standard
NM_001395492.1	RefSeq	NP_001382421.1	6	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

cilium organization

Molecular Function

protein binding

Cellular Component

photoreceptor connecting cilium
ciliary basal body

dbNSFP Gene Annotations

Source: dbNSFP