INSC

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

Basic information

Region (hg38): 11:15112424-15247208

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.

not_specified (92 variants)
not_provided (4 variants)

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. These statistics are base on transcript: NM_001042536.3. Only rare variants are included in the table.

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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				1 clinvar		1
missense			90 clinvar	4 clinvar	1 clinvar	95
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	90	5	1

Loading clinvar variants...

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