INSC

INSC spindle orientation adaptor protein, the group of Armadillo like helical domain containing

Basic information

Region (hg38): 11:15112423-15247208

Links

ENSG00000188487 ∙ NCBI:387755 ∙ OMIM:610668 ∙ HGNC:33116 ∙ Uniprot:Q1MX18 ∙ 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 INSC gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the INSC 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				1		1
missense			44	2	1	47
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	44	3	1

Variants in INSC

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

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

Position	Type	Phenotype	Significance	ClinVar
11-15112477-G-A		not specified	Uncertain significance (Sep 16, 2021)
11-15149169-A-T		not specified	Uncertain significance (May 13, 2024)
11-15149212-T-A		not specified	Uncertain significance (May 11, 2022)
11-15175800-C-A		not specified	Uncertain significance (Oct 04, 2022)
11-15175802-G-A		not specified	Uncertain significance (Jul 09, 2021)
11-15175835-C-T		not specified	Uncertain significance (Oct 05, 2023)
11-15175896-G-T		not specified	Uncertain significance (Jul 12, 2022)
11-15175900-C-A		not specified	Uncertain significance (Apr 12, 2022)
11-15175979-C-T		not specified	Uncertain significance (Oct 03, 2022)
11-15175988-C-T		not specified	Uncertain significance (Mar 08, 2024)
11-15176010-G-A		not specified	Uncertain significance (Feb 11, 2022)
11-15176027-C-A		not specified	Uncertain significance (Sep 17, 2021)
11-15176027-C-T		not specified	Uncertain significance (Jan 06, 2023)
11-15176031-C-T		not specified	Uncertain significance (Jun 30, 2022)
11-15176042-G-A		not specified	Uncertain significance (Dec 17, 2023)
11-15176052-C-G		not specified	Uncertain significance (Jul 17, 2023)
11-15178345-G-T		not specified	Uncertain significance (Dec 15, 2023)
11-15178362-T-G		not specified	Uncertain significance (Apr 04, 2024)
11-15178370-T-C		not specified	Uncertain significance (Apr 20, 2024)
11-15178427-G-A		not specified	Uncertain significance (Apr 27, 2024)
11-15190718-T-G		not specified	Uncertain significance (Feb 22, 2023)
11-15190784-G-C		not specified	Uncertain significance (Dec 03, 2021)
11-15200836-G-A			Benign (May 21, 2018)
11-15200857-C-T		not specified	Uncertain significance (Mar 16, 2024)
11-15200866-A-T		not specified	Uncertain significance (Feb 15, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
INSC	protein_coding	protein_coding	ENST00000379554	13	134785

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.71e-18	0.00627	125110	1	240	125351	0.000962

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.190	358	348	1.03	0.0000211	3722
Missense in Polyphen		123	116.78	1.0533		1234
Synonymous	0.611	132	141	0.935	0.00000864	1182
Loss of Function	0.203	28	29.2	0.959	0.00000150	318

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00554	0.00526
Ashkenazi Jewish	0.00377	0.00378
East Asian	0.000734	0.000722
Finnish	0.0000468	0.0000464
European (Non-Finnish)	0.000612	0.000599
Middle Eastern	0.000734	0.000722
South Asian	0.000617	0.000588
Other	0.000995	0.000981

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May function as an adapter linking the Par3 complex to the GPSM1/GPSM2 complex (PubMed:16458856). Involved in spindle orientation during mitosis. May regulate cell proliferation and differentiation in the developing nervous system. May play a role in the asymmetric division of fibroblasts and participate in the process of stratification of the squamous epithelium (By similarity). {ECO:0000250|UniProtKB:Q3HNM7, ECO:0000305|PubMed:16458856}.

Recessive Scores

• pRec: 0.135

Intolerance Scores

• loftool: 0.929
• rvis_EVS: 0.89
• rvis_percentile_EVS: 89.29

Haploinsufficiency Scores

• pHI: 0.243
• hipred: Y
• hipred_score: 0.564
• ghis: 0.457

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.141

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Insc
• Phenotype: hearing/vestibular/ear phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); cellular phenotype

Gene ontology

• Biological process: nervous system development;asymmetric cell division;cell differentiation;regulation of protein stability
• Cellular component: plasma membrane;cell cortex;protein-containing complex
• Molecular function: protein binding;protein domain specific binding;protein binding, bridging