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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: 17397

FusionGeneSummary for IL4I1_KCNQ2

check button Fusion gene summary
Fusion gene informationFusion gene name: IL4I1_KCNQ2
Fusion gene ID: 17397
HgeneTgene
Gene symbol

IL4I1

KCNQ2

Gene ID

259307

3785

Gene nameinterleukin 4 induced 1potassium voltage-gated channel subfamily Q member 2
SynonymsFIG1|LAAO|LAOBFNC|EBN|EBN1|ENB1|HNSPC|KCNA11|KV7.2
Cytomap

19q13.33

20q13.33

Type of geneprotein-codingprotein-coding
DescriptionL-amino-acid oxidaseFig-1 proteinIL4-induced protein 1interleukin four induced 1potassium voltage-gated channel subfamily KQT member 2neuroblastoma-specific potassium channel subunit alpha KvLQT2potassium channel, voltage gated KQT-like subfamily Q, member 2voltage-gated potassium channel subunit Kv7.2
Modification date2018052320180523
UniProtAcc

Q96RQ9

O43526

Ensembl transtripts involved in fusion geneENST00000391826, ENST00000595948, 
ENST00000341114, 		ENST00000359125, 
ENST00000357249, ENST00000359689, 
ENST00000354587, ENST00000360480, 
ENST00000370224, ENST00000344462, 
ENST00000482957, ENST00000344425, 
Fusion gene scores* DoF score10 X 6 X 6=3602 X 1 X 1=2
# samples 111
** MAII scorelog2(11/360*10)=-1.71049338280502
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(1/2*10)=2.32192809488736
Context

PubMed: IL4I1 [Title/Abstract] AND KCNQ2 [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
TgeneKCNQ2

GO:0071805

potassium ion transmembrane transport

9836639|27564677


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
TCGARVBRCATCGA-A2-A3XW-01AIL4I1chr19

50430951

-KCNQ2chr20

62076717

-
* 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
intron-3CDSENST00000391826ENST00000359125IL4I1chr19

50430951

-KCNQ2chr20

62076717

-
intron-3CDSENST00000391826ENST00000357249IL4I1chr19

50430951

-KCNQ2chr20

62076717

-
intron-3CDSENST00000391826ENST00000359689IL4I1chr19

50430951

-KCNQ2chr20

62076717

-
intron-3CDSENST00000391826ENST00000354587IL4I1chr19

50430951

-KCNQ2chr20

62076717

-
intron-3CDSENST00000391826ENST00000360480IL4I1chr19

50430951

-KCNQ2chr20

62076717

-
intron-3CDSENST00000391826ENST00000370224IL4I1chr19

50430951

-KCNQ2chr20

62076717

-
intron-3CDSENST00000391826ENST00000344462IL4I1chr19

50430951

-KCNQ2chr20

62076717

-
intron-intronENST00000391826ENST00000482957IL4I1chr19

50430951

-KCNQ2chr20

62076717

-
intron-intronENST00000391826ENST00000344425IL4I1chr19

50430951

-KCNQ2chr20

62076717

-
5UTR-3CDSENST00000595948ENST00000359125IL4I1chr19

50430951

-KCNQ2chr20

62076717

-
5UTR-3CDSENST00000595948ENST00000357249IL4I1chr19

50430951

-KCNQ2chr20

62076717

-
5UTR-3CDSENST00000595948ENST00000359689IL4I1chr19

50430951

-KCNQ2chr20

62076717

-
5UTR-3CDSENST00000595948ENST00000354587IL4I1chr19

50430951

-KCNQ2chr20

62076717

-
5UTR-3CDSENST00000595948ENST00000360480IL4I1chr19

50430951

-KCNQ2chr20

62076717

-
5UTR-3CDSENST00000595948ENST00000370224IL4I1chr19

50430951

-KCNQ2chr20

62076717

-
5UTR-3CDSENST00000595948ENST00000344462IL4I1chr19

50430951

-KCNQ2chr20

62076717

-
5UTR-intronENST00000595948ENST00000482957IL4I1chr19

50430951

-KCNQ2chr20

62076717

-
5UTR-intronENST00000595948ENST00000344425IL4I1chr19

50430951

-KCNQ2chr20

62076717

-
5UTR-3CDSENST00000341114ENST00000359125IL4I1chr19

50430951

-KCNQ2chr20

62076717

-
5UTR-3CDSENST00000341114ENST00000357249IL4I1chr19

50430951

-KCNQ2chr20

62076717

-
5UTR-3CDSENST00000341114ENST00000359689IL4I1chr19

50430951

-KCNQ2chr20

62076717

-
5UTR-3CDSENST00000341114ENST00000354587IL4I1chr19

50430951

-KCNQ2chr20

62076717

-
5UTR-3CDSENST00000341114ENST00000360480IL4I1chr19

50430951

-KCNQ2chr20

62076717

-
5UTR-3CDSENST00000341114ENST00000370224IL4I1chr19

50430951

-KCNQ2chr20

62076717

-
5UTR-3CDSENST00000341114ENST00000344462IL4I1chr19

50430951

-KCNQ2chr20

62076717

-
5UTR-intronENST00000341114ENST00000482957IL4I1chr19

50430951

-KCNQ2chr20

62076717

-
5UTR-intronENST00000341114ENST00000344425IL4I1chr19

50430951

-KCNQ2chr20

62076717

-

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FusionProtFeatures for IL4I1_KCNQ2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
IL4I1

Q96RQ9

KCNQ2

O43526

Lysosomal L-amino-acid oxidase with highest specificactivity with phenylalanine. May play a role in lysosomal antigenprocessing and presentation (By similarity). {ECO:0000250}.

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 IL4I1_KCNQ2


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 IL4I1_KCNQ2


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
IL4I1KCNQ2KCNQ3, ARIH2, KCNQ1, CALM2, CALM3, GOLM1, TRIM25


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 IL4I1_KCNQ2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneIL4I1Q96RQ9DB04272Citric AcidL-amino-acid oxidasesmall moleculeapproved|nutraceutical|vet_approved
TgeneKCNQ2O43526DB00321AmitriptylinePotassium voltage-gated channel subfamily KQT member 2 {ECO:0000305}small moleculeapproved
TgeneKCNQ2O43526DB04953EzogabinePotassium voltage-gated channel subfamily KQT member 2 {ECO:0000305}small moleculeapproved|investigational
TgeneKCNQ2O43526DB00586DiclofenacPotassium voltage-gated channel subfamily KQT member 2 {ECO:0000305}small moleculeapproved|vet_approved
TgeneKCNQ2O43526DB00939Meclofenamic acidPotassium voltage-gated channel subfamily KQT member 2 {ECO:0000305}small moleculeapproved|vet_approved

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RelatedDiseases for IL4I1_KCNQ2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneKCNQ2C3149074SEIZURES, BENIGN FAMILIAL NEONATAL, 16CTD_human;UNIPROT
TgeneKCNQ2C0036341Schizophrenia2PSYGENET
TgeneKCNQ2C0005586Bipolar Disorder1PSYGENET
TgeneKCNQ2C0008073Developmental Disabilities1CTD_human
TgeneKCNQ2C0014544Epilepsy1CTD_human;HPO
TgeneKCNQ2C0027765nervous system disorder1CTD_human
TgeneKCNQ2C0270851Benign neonatal epilepsy1CTD_human
TgeneKCNQ2C1839839MAJOR AFFECTIVE DISORDER 21PSYGENET
TgeneKCNQ2C3150986EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 71CTD_human;ORPHANET;UNIPROT