STK11IP

serine/threonine kinase 11 interacting protein

Basic information

Region (hg38): 2:219597857-219616451

Links

ENSG00000144589

∙ NCBI:114790 ∙ OMIM:607172 ∙ HGNC:19184 ∙ Uniprot:Q8N1F8 ∙ 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 STK11IP gene.

not_specified (183 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the STK11IP gene is commonly pathogenic or not. These statistics are base on transcript: NM_000052902.4. 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			5 clinvar			5
missense			170 clinvar	18 clinvar		188
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			6 clinvar			6
Total	0	0	181	18	0

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
STK11IP	protein_coding	protein_coding	ENST00000295641	25	18592

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
8.60e-20	0.933	124994	0	222	125216	0.000887

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.509	604	640	0.943	0.0000391	6917
Missense in Polyphen		220	253.06	0.86935		2965
Synonymous	0.708	251	266	0.945	0.0000149	2362
Loss of Function	2.46	40	60.7	0.659	0.00000356	621

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00125	0.00117
Ashkenazi Jewish	0.00872	0.00808
East Asian	0.000818	0.000769
Finnish	0.0000932	0.0000926
European (Non-Finnish)	0.000669	0.000609
Middle Eastern	0.000818	0.000769
South Asian	0.000724	0.000719
Other	0.00178	0.00164

dbNSFP

Source: dbNSFP

Function: FUNCTION: May regulate STK11/LKB1 function by controlling its subcellular localization. {ECO:0000269|PubMed:11741830}.;
Pathway: Neutrophil degranulation;Innate Immune System;Immune System;TGF_beta_Receptor;LKB1 signaling events (Consensus)

Recessive Scores

pRec: 0.0895

Intolerance Scores

loftool
rvis_EVS: -0.21
rvis_percentile_EVS: 37.75

Haploinsufficiency Scores

pHI: 0.107
hipred
hipred_score
ghis: 0.511

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap
gene_indispensability_pred: E
gene_indispensability_score: 0.743

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Stk11ip
Phenotype

Gene ontology

Biological process: cytoskeleton organization;protein localization;neutrophil degranulation
Cellular component: extracellular region;cytoplasm;lysosomal membrane;azurophil granule lumen
Molecular function: protein kinase binding