SIKE1

suppressor of IKBKE 1, the group of STRIPAK complex

Basic information

Region (hg38): 1:114769479-114780685

Links

ENSG00000052723 ∙ NCBI:80143 ∙ OMIM:611656 ∙ HGNC:26119 ∙ Uniprot:Q9BRV8 ∙ 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 SIKE1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SIKE1 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						0
non coding						0
Total	0	0	8	0	0

Variants in SIKE1

This is a list of pathogenic ClinVar variants found in the SIKE1 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-114774279-T-C		not specified	Uncertain significance (Jun 26, 2024)
1-114774308-T-C		not specified	Uncertain significance (Dec 09, 2024)
1-114776425-A-G		not specified	Uncertain significance (Feb 09, 2025)
1-114776441-C-G		not specified	Uncertain significance (Dec 14, 2024)
1-114779210-G-C		not specified	Uncertain significance (Feb 27, 2024)
1-114780167-G-A		not specified	Uncertain significance (Feb 11, 2025)
1-114780200-A-T		not specified	Uncertain significance (Dec 08, 2023)
1-114780454-C-G		not specified	Uncertain significance (Feb 05, 2025)
1-114780570-T-C		not specified	Uncertain significance (Aug 02, 2021)
1-114780591-T-C		not specified	Uncertain significance (Nov 13, 2023)
1-114780598-T-C		not specified	Uncertain significance (Dec 16, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SIKE1	protein_coding	protein_coding	ENST00000369528	5	11207

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.196	0.795	125686	0	62	125748	0.000247

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.435	102	115	0.886	0.00000523	1396
Missense in Polyphen		30	40.652	0.73797		493
Synonymous	0.359	42	45.1	0.932	0.00000211	379
Loss of Function	2.24	3	11.0	0.272	5.30e-7	128

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000208	0.000208
Ashkenazi Jewish	0.00	0.00
East Asian	0.00242	0.00229
Finnish	0.00	0.00
European (Non-Finnish)	0.0000354	0.0000352
Middle Eastern	0.00242	0.00229
South Asian	0.000298	0.000294
Other	0.000164	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Physiological suppressor of IKK-epsilon and TBK1 that plays an inhibitory role in virus- and TLR3-triggered IRF3. Inhibits TLR3-mediated activation of interferon-stimulated response elements (ISRE) and the IFN-beta promoter. May act by disrupting the interactions of IKBKE or TBK1 with TICAM1/TRIF, IRF3 and DDX58/RIG-I. Does not inhibit NF-kappa-B activation pathways. {ECO:0000269|PubMed:16281057}.
• Pathway: RIG-I-like receptor signaling pathway - Homo sapiens (human);RIG-I-like Receptor Signaling;TRAF6 mediated IRF7 activation;DDX58/IFIH1-mediated induction of interferon-alpha/beta;Innate Immune System;Immune System;TRAF3-dependent IRF activation pathway (Consensus)

Intolerance Scores

• loftool: 0.275
• rvis_EVS: -0.23
• rvis_percentile_EVS: 36.86

Haploinsufficiency Scores

• hipred: Y
• hipred_score: 0.734
• ghis: 0.712

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.834

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Sike1

Gene ontology

• Cellular component: cytosol
• Molecular function: protein binding;Rho GTPase binding;protein kinase binding