GSKIP

GSK3B interacting protein

Basic information

Region (hg38): 14:96363452-96387288

Previous symbols: [ "C14orf129" ]

Links

ENSG00000100744 ∙ NCBI:51527 ∙ OMIM:616605 ∙ HGNC:20343 ∙ Uniprot:Q9P0R6 ∙ 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 GSKIP gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GSKIP 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			8			8
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1	1	2
non coding					4	4
Total	0	0	8	0	4

Variants in GSKIP

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

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

Position	Type	Phenotype	Significance	ClinVar
14-96363513-G-T			Benign (Jul 25, 2019)
14-96363661-G-A			Benign (Apr 01, 2020)
14-96382140-T-C			Benign (Jul 10, 2018)
14-96382228-CTTT-C		GSKIP-related disorder	Likely benign (Dec 16, 2019)
14-96382228-C-CT			Benign (Dec 05, 2020)
14-96382280-C-A		not specified	Uncertain significance (Jan 11, 2023)
14-96382281-A-G		not specified	Uncertain significance (Jan 11, 2023)
14-96382329-A-T		not specified	Uncertain significance (Nov 22, 2022)
14-96382353-G-A		not specified	Uncertain significance (Aug 16, 2022)
14-96382376-T-A		not specified	Uncertain significance (Jan 23, 2024)
14-96382419-C-T		not specified	Uncertain significance (May 28, 2024)
14-96382429-A-C		not specified	Uncertain significance (Feb 15, 2023)
14-96382469-C-G		not specified	Uncertain significance (Feb 22, 2023)
14-96382562-A-G			Benign (Jul 09, 2018)
14-96385566-C-T		not specified	Uncertain significance (Oct 25, 2023)
14-96385620-G-A		not specified	Uncertain significance (Dec 03, 2024)
14-96385637-G-A		not specified	Uncertain significance (Aug 27, 2024)
14-96385673-G-A		not specified	Uncertain significance (Oct 09, 2024)
14-96385734-T-C			Benign (Jul 09, 2018)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GSKIP	protein_coding	protein_coding	ENST00000556095	2	23812

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.382	0.577	125691	0	2	125693	0.00000796

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.983	52	76.1	0.683	0.00000393	911
Missense in Polyphen		15	24.36	0.61576		295
Synonymous	-0.846	37	31.0	1.19	0.00000183	264
Loss of Function	1.62	1	4.86	0.206	2.89e-7	61

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000289	0.0000289
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00000900	0.00000879
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: A-kinase anchoring protein for GSK3B and PKA that regulates or facilitates their kinase activity towards their targets (PubMed:27484798, PubMed:25920809, PubMed:16981698). The ternary complex enhances Wnt-induced signaling by facilitating the GSK3B- and PKA-induced phosphorylation of beta-catenin leading to beta-catenin degradation and stabilization respectively (PubMed:27484798, PubMed:16981698). Upon cAMP activation, the ternary complex contributes to neuroprotection against oxidative stress-induced apoptosis by facilitating the PKA-induced phosphorylation of DML1 and PKA-induced inactivation of GSK3B (PubMed:25920809). During neurite outgrowth promotes neuron proliferation; while increases beta-catenin-induced transcriptional activity through GSK3B kinase activity inhibition, reduces N-cadherin level to promote cell cycle progression (PubMed:19830702). {ECO:0000269|PubMed:16981698, ECO:0000269|PubMed:19830702, ECO:0000269|PubMed:25920809, ECO:0000269|PubMed:27484798}.

Recessive Scores

• pRec: 0.113

Intolerance Scores

• rvis_EVS: -0.03
• rvis_percentile_EVS: 51.04

Haploinsufficiency Scores

• pHI: 0.215
• hipred: N
• hipred_score: 0.444
• ghis: 0.537

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Gskip
• Phenotype: skeleton phenotype; digestive/alimentary phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); respiratory system phenotype; homeostasis/metabolism phenotype; craniofacial phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); growth/size/body region phenotype

Gene ontology

• Biological process: negative regulation of protein kinase activity;intrinsic apoptotic signaling pathway in response to oxidative stress;regulation of Wnt signaling pathway;positive regulation of canonical Wnt signaling pathway
• Cellular component: nucleus;cytoplasm
• Molecular function: protein kinase inhibitor activity;protein binding;beta-catenin binding;protein kinase binding;protein kinase A regulatory subunit binding;protein kinase A binding