TSGA10IP

testis specific 10 interacting protein

Basic information

Region (hg38): 11:65945480-65959966

Links

ENSG00000175513 ∙ NCBI:254187 ∙ ∙ HGNC:26555 ∙ Uniprot:Q3SY00 ∙ 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 TSGA10IP gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TSGA10IP 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			54	6		60
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	54	6	0

Variants in TSGA10IP

This is a list of pathogenic ClinVar variants found in the TSGA10IP region.

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

Position	Type	Phenotype	Significance	ClinVar
11-65945680-G-A		not specified	Uncertain significance (Feb 10, 2022)
11-65945734-T-C		not specified	Likely benign (Dec 22, 2023)
11-65945755-G-A		not specified	Uncertain significance (Jan 03, 2024)
11-65945763-G-A		not specified	Uncertain significance (Jul 16, 2024)
11-65945763-G-T		not specified	Uncertain significance (Jan 21, 2025)
11-65945794-T-G		not specified	Uncertain significance (May 16, 2022)
11-65945800-C-T		not specified	Uncertain significance (Jan 23, 2023)
11-65945803-C-T		not specified	Uncertain significance (Jun 01, 2023)
11-65945805-G-A		not specified	Likely benign (Dec 09, 2023)
11-65946937-A-G		not specified	Uncertain significance (Apr 23, 2024)
11-65946964-C-T		not specified	Uncertain significance (Dec 13, 2023)
11-65946981-G-C		not specified	Uncertain significance (Dec 27, 2023)
11-65947001-C-A		not specified	Uncertain significance (Nov 03, 2023)
11-65947144-C-A		not specified	Uncertain significance (Jan 16, 2024)
11-65947168-A-T		not specified	Likely benign (Aug 04, 2023)
11-65947256-G-A		not specified	Likely benign (Jun 06, 2023)
11-65947267-C-A		not specified	Uncertain significance (Aug 14, 2023)
11-65947267-C-T		not specified	Uncertain significance (Sep 11, 2024)
11-65947268-G-A		not specified	Uncertain significance (Nov 03, 2023)
11-65947295-C-T		not specified	Uncertain significance (Oct 30, 2023)
11-65947298-A-G		not specified	Uncertain significance (Jul 27, 2024)
11-65947322-C-T		not specified	Likely benign (Dec 22, 2023)
11-65947333-A-C		not specified	Uncertain significance (Jun 28, 2022)
11-65947336-G-C		not specified	Uncertain significance (Dec 12, 2023)
11-65947372-A-G		not specified	Uncertain significance (Apr 07, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• pHI: 0.114

Mouse Genome Informatics

• Gene name: Tsga10ip

Gene ontology

• Biological process: cilium organization
• Cellular component: photoreceptor connecting cilium;ciliary basal body
• Molecular function: protein binding