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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 17368

FusionGeneSummary for IL1RAPL2_STK39

check button Fusion gene summary
Fusion gene informationFusion gene name: IL1RAPL2_STK39
Fusion gene ID: 17368
HgeneTgene
Gene symbol

IL1RAPL2

STK39

Gene ID

26280

27347

Gene nameinterleukin 1 receptor accessory protein like 2serine/threonine kinase 39
SynonymsIL-1R9|IL1R9|IL1RAPL-2|TIGIRR-1DCHT|PASK|SPAK
Cytomap

Xq22.3

2q24.3

Type of geneprotein-codingprotein-coding
DescriptionX-linked interleukin-1 receptor accessory protein-like 2IL-1 receptor accessory protein-like 2IL-1R-9IL1RAPL-2-related proteininterleukin 1 receptor 9three immunoglobulin domain-containing IL-1 receptor-related 1STE20/SPS1-related proline-alanine-rich protein kinaseSTE20/SPS1 homologSte20-like protein kinaseproline-alanine-rich STE20-related kinaseserine threonine kinase 39 (STE20/SPS1 homolog, yeast)serine/threonine-protein kinase 39small intestine SPAK-li
Modification date2018051920180523
UniProtAcc

Q9NP60

Q9UEW8

Ensembl transtripts involved in fusion geneENST00000372582, ENST00000344799, 
ENST00000485671, 
ENST00000487143, 
ENST00000355999, 
Fusion gene scores* DoF score1 X 1 X 1=18 X 6 X 8=384
# samples 18
** MAII scorelog2(1/1*10)=3.32192809488736log2(8/384*10)=-2.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: IL1RAPL2 [Title/Abstract] AND STK39 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
TgeneSTK39

GO:0018105

peptidyl-serine phosphorylation

24393035

TgeneSTK39

GO:0018107

peptidyl-threonine phosphorylation

24393035

TgeneSTK39

GO:0023014

signal transduction by protein phosphorylation

24393035

TgeneSTK39

GO:0035556

intracellular signal transduction

24393035

TgeneSTK39

GO:1901017

negative regulation of potassium ion transmembrane transporter activity

24393035

TgeneSTK39

GO:1901380

negative regulation of potassium ion transmembrane transport

24393035

TgeneSTK39

GO:1905408

negative regulation of creatine transmembrane transporter activity

25531585

TgeneSTK39

GO:2000650

negative regulation of sodium ion transmembrane transporter activity

25531585


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVPRADTCGA-EJ-7782-01AIL1RAPL2chrX

104478688

+STK39chr2

168821236

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
5CDS-5UTRENST00000372582ENST00000487143IL1RAPL2chrX

104478688

+STK39chr2

168821236

-
5CDS-5UTRENST00000372582ENST00000355999IL1RAPL2chrX

104478688

+STK39chr2

168821236

-
5CDS-5UTRENST00000344799ENST00000487143IL1RAPL2chrX

104478688

+STK39chr2

168821236

-
5CDS-5UTRENST00000344799ENST00000355999IL1RAPL2chrX

104478688

+STK39chr2

168821236

-
intron-5UTRENST00000485671ENST00000487143IL1RAPL2chrX

104478688

+STK39chr2

168821236

-
intron-5UTRENST00000485671ENST00000355999IL1RAPL2chrX

104478688

+STK39chr2

168821236

-

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FusionProtFeatures for IL1RAPL2_STK39


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
IL1RAPL2

Q9NP60

STK39

Q9UEW8

May act as a mediator of stress-activated signals.Mediates the inhibition of SLC4A4, SLC26A6 as well as CFTRactivities by the WNK scaffolds, probably through phosphorylation.{ECO:0000250|UniProtKB:Q9Z1W9}.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page

.

* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for IL1RAPL2_STK39


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for IL1RAPL2_STK39


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
IL1RAPL2EGFRSTK39SLC12A2, AATK, GSN, OTOF, WNK4, HSPH1, MAPK14, STK39, MBP, SPP1, API5, NOL3, NUBP1, PCNA, EHD1, FKBP9, XPNPEP1, TSC22D4, RELT, PSG1, RHOA, ATL2, ARX, MCM2, TSC22D2, CDC25B, RELL1, RELL2, LAMP2, ST8SIA4, KLRG2, PTGIR, TOMM22


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for IL1RAPL2_STK39


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for IL1RAPL2_STK39


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneSTK39C0004352Autistic Disorder1CTD_human
TgeneSTK39C0020538Hypertensive disease1CTD_human