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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: 1514

FusionGeneSummary for ALDOA_SCN2A

check button Fusion gene summary
Fusion gene informationFusion gene name: ALDOA_SCN2A
Fusion gene ID: 1514
HgeneTgene
Gene symbol

ALDOA

SCN2A

Gene ID

226

6326

Gene namealdolase, fructose-bisphosphate Asodium voltage-gated channel alpha subunit 2
SynonymsALDA|GSD12|HEL-S-87pBFIC3|BFIS3|BFNIS|EIEE11|HBA|HBSCI|HBSCII|NAC2|Na(v)1.2|Nav1.2|SCN2A1|SCN2A2
Cytomap

16p11.2

2q24.3

Type of geneprotein-codingprotein-coding
Descriptionfructose-bisphosphate aldolase Aaldolase A, fructose-bisphosphateepididymis secretory sperm binding protein Li 87pfructose-1,6-bisphosphate triosephosphate-lyaselung cancer antigen NY-LU-1muscle-type aldolasesodium channel protein type 2 subunit alphaHBSC IIsodium channel protein brain II subunit alphasodium channel protein type II subunit alphasodium channel protein, brain type 2 alpha subunitsodium channel, voltage-gated, type II, alpha 1 polypeptides
Modification date2018052220180527
UniProtAcc

P04075

Q99250

Ensembl transtripts involved in fusion geneENST00000338110, ENST00000395248, 
ENST00000575627, ENST00000566897, 
ENST00000569545, ENST00000563060, 
ENST00000412304, ENST00000564546, 
ENST00000564595, ENST00000569798, 
ENST00000395240, 		ENST00000375437, 
ENST00000357398, ENST00000283256, 
ENST00000375427, 
Fusion gene scores* DoF score17 X 7 X 10=11902 X 1 X 1=2
# samples 202
** MAII scorelog2(20/1190*10)=-2.57288966842058
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(2/2*10)=3.32192809488736
Context

PubMed: ALDOA [Title/Abstract] AND SCN2A [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
HgeneALDOA

GO:0008360

regulation of cell shape

9244396

HgeneALDOA

GO:0030388

fructose 1,6-bisphosphate metabolic process

9244396|14766013


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
TCGARVLGGTCGA-CS-6669-01AALDOAchr16

30081734

+SCN2Achr2

166150541

+
* 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-intronENST00000338110ENST00000375437ALDOAchr16

30081734

+SCN2Achr2

166150541

+
5CDS-intronENST00000338110ENST00000357398ALDOAchr16

30081734

+SCN2Achr2

166150541

+
5CDS-intronENST00000338110ENST00000283256ALDOAchr16

30081734

+SCN2Achr2

166150541

+
5CDS-intronENST00000338110ENST00000375427ALDOAchr16

30081734

+SCN2Achr2

166150541

+
3UTR-intronENST00000395248ENST00000375437ALDOAchr16

30081734

+SCN2Achr2

166150541

+
3UTR-intronENST00000395248ENST00000357398ALDOAchr16

30081734

+SCN2Achr2

166150541

+
3UTR-intronENST00000395248ENST00000283256ALDOAchr16

30081734

+SCN2Achr2

166150541

+
3UTR-intronENST00000395248ENST00000375427ALDOAchr16

30081734

+SCN2Achr2

166150541

+
intron-intronENST00000575627ENST00000375437ALDOAchr16

30081734

+SCN2Achr2

166150541

+
intron-intronENST00000575627ENST00000357398ALDOAchr16

30081734

+SCN2Achr2

166150541

+
intron-intronENST00000575627ENST00000283256ALDOAchr16

30081734

+SCN2Achr2

166150541

+
intron-intronENST00000575627ENST00000375427ALDOAchr16

30081734

+SCN2Achr2

166150541

+
5CDS-intronENST00000566897ENST00000375437ALDOAchr16

30081734

+SCN2Achr2

166150541

+
5CDS-intronENST00000566897ENST00000357398ALDOAchr16

30081734

+SCN2Achr2

166150541

+
5CDS-intronENST00000566897ENST00000283256ALDOAchr16

30081734

+SCN2Achr2

166150541

+
5CDS-intronENST00000566897ENST00000375427ALDOAchr16

30081734

+SCN2Achr2

166150541

+
intron-intronENST00000569545ENST00000375437ALDOAchr16

30081734

+SCN2Achr2

166150541

+
intron-intronENST00000569545ENST00000357398ALDOAchr16

30081734

+SCN2Achr2

166150541

+
intron-intronENST00000569545ENST00000283256ALDOAchr16

30081734

+SCN2Achr2

166150541

+
intron-intronENST00000569545ENST00000375427ALDOAchr16

30081734

+SCN2Achr2

166150541

+
5CDS-intronENST00000563060ENST00000375437ALDOAchr16

30081734

+SCN2Achr2

166150541

+
5CDS-intronENST00000563060ENST00000357398ALDOAchr16

30081734

+SCN2Achr2

166150541

+
5CDS-intronENST00000563060ENST00000283256ALDOAchr16

30081734

+SCN2Achr2

166150541

+
5CDS-intronENST00000563060ENST00000375427ALDOAchr16

30081734

+SCN2Achr2

166150541

+
5CDS-intronENST00000412304ENST00000375437ALDOAchr16

30081734

+SCN2Achr2

166150541

+
5CDS-intronENST00000412304ENST00000357398ALDOAchr16

30081734

+SCN2Achr2

166150541

+
5CDS-intronENST00000412304ENST00000283256ALDOAchr16

30081734

+SCN2Achr2

166150541

+
5CDS-intronENST00000412304ENST00000375427ALDOAchr16

30081734

+SCN2Achr2

166150541

+
3UTR-intronENST00000564546ENST00000375437ALDOAchr16

30081734

+SCN2Achr2

166150541

+
3UTR-intronENST00000564546ENST00000357398ALDOAchr16

30081734

+SCN2Achr2

166150541

+
3UTR-intronENST00000564546ENST00000283256ALDOAchr16

30081734

+SCN2Achr2

166150541

+
3UTR-intronENST00000564546ENST00000375427ALDOAchr16

30081734

+SCN2Achr2

166150541

+
5CDS-intronENST00000564595ENST00000375437ALDOAchr16

30081734

+SCN2Achr2

166150541

+
5CDS-intronENST00000564595ENST00000357398ALDOAchr16

30081734

+SCN2Achr2

166150541

+
5CDS-intronENST00000564595ENST00000283256ALDOAchr16

30081734

+SCN2Achr2

166150541

+
5CDS-intronENST00000564595ENST00000375427ALDOAchr16

30081734

+SCN2Achr2

166150541

+
intron-intronENST00000569798ENST00000375437ALDOAchr16

30081734

+SCN2Achr2

166150541

+
intron-intronENST00000569798ENST00000357398ALDOAchr16

30081734

+SCN2Achr2

166150541

+
intron-intronENST00000569798ENST00000283256ALDOAchr16

30081734

+SCN2Achr2

166150541

+
intron-intronENST00000569798ENST00000375427ALDOAchr16

30081734

+SCN2Achr2

166150541

+
intron-intronENST00000395240ENST00000375437ALDOAchr16

30081734

+SCN2Achr2

166150541

+
intron-intronENST00000395240ENST00000357398ALDOAchr16

30081734

+SCN2Achr2

166150541

+
intron-intronENST00000395240ENST00000283256ALDOAchr16

30081734

+SCN2Achr2

166150541

+
intron-intronENST00000395240ENST00000375427ALDOAchr16

30081734

+SCN2Achr2

166150541

+

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FusionProtFeatures for ALDOA_SCN2A


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

P04075

SCN2A

Q99250

Plays a key role in glycolysis and gluconeogenesis. Inaddition, may also function as scaffolding protein (Bysimilarity). {ECO:0000250}. Mediates the voltage-dependent sodium ion permeabilityof excitable membranes. Assuming opened or closed conformations inresponse to the voltage difference across the membrane, theprotein forms a sodium-selective channel through which Na(+) ionsmay pass in accordance with their electrochemical gradient.{ECO:0000269|PubMed:1325650, ECO:0000269|PubMed:17021166,ECO:0000269|PubMed:28256214}.

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 ALDOA_SCN2A


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 ALDOA_SCN2A


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
ALDOAXRN1, FANCA, ATP6V1E1, PLD2, USP15, OSBPL10, EGFR, TRIM63, PSMD4, H2AFX, CACNA1A, HDAC5, PCNA, PSMA3, MYC, ISG15, TERF1, CUL3, CUL4B, CUL2, CDK2, MYOC, AKT1, PGK1, ALDOC, HSPD1, LGALS1, LIG4, HSP90AA1, HSP90AB1, VCAM1, FN1, ATF2, IQCB1, MLH1, VCPKMT, ITGA4, RAD52, ALDOB, ALDOA, BCAT2, GALNT6, PIAS4, CS, TNPO3, ADRB2, HUWE1, FUS, IFNA4, SUZ12, HNRNPA1, ACAA2, ACTN4, ACO2, ADI1, ARHGDIA, ASS1, CFL1, COX4I1, ECHS1, FKBP2, GPD1L, GPX4, HSD17B10, IMPA2, ISYNA1, LMAN1, MAP2K7, MYH7B, PKM, SUMO2, TAGLN, TAGLN2, TKT, TRAP1, ATP5J, CKB, CKMT1B, CKMT1A, CKMT2, DUT, ENO1, FABP5, FH, FKBP7, GAPDH, GLO1, HSPE1, KCNAB2, LDHA, LTA4H, NDUFS4, PGAM2, PREP, SOD2, SUMO4, TALDO1, UMPS, NTRK1, HSPB2, SRPK2, AHSA1, CDK2AP1, NCSTN, NCAPH, VPS18, DRC1, MCM2, CDC73, CDH1, CARM1, DNM1L, SOAT1, SOD1, TRIM25, BRCA1SCN2A


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 ALDOA_SCN2A


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneALDOAP04075DB01593ZincFructose-bisphosphate aldolase Asmall moleculeapproved|investigational
HgeneALDOAP04075DB11638ArtenimolFructose-bisphosphate aldolase Asmall moleculeapproved|investigational
TgeneSCN2AQ99250DB00555LamotrigineSodium channel protein type 2 subunit alphasmall moleculeapproved|investigational
TgeneSCN2AQ99250DB00909ZonisamideSodium channel protein type 2 subunit alphasmall moleculeapproved|investigational
TgeneSCN2AQ99250DB00818PropofolSodium channel protein type 2 subunit alphasmall moleculeapproved|investigational|vet_approved

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RelatedDiseases for ALDOA_SCN2A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneALDOAC0272066Glycogen Storage Disease XII3CTD_human;ORPHANET;UNIPROT
HgeneALDOAC0027626Neoplasm Invasiveness1CTD_human
HgeneALDOAC0027627Neoplasm Metastasis1CTD_human
HgeneALDOAC0151744Myocardial Ischemia1CTD_human
HgeneALDOAC0152013Adenocarcinoma of lung (disorder)1CTD_human
HgeneALDOAC1458155Mammary Neoplasms1CTD_human
TgeneSCN2AC1843140SEIZURES, BENIGN FAMILIAL INFANTILE, 35UNIPROT
TgeneSCN2AC3150987EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 115CTD_human;UNIPROT
TgeneSCN2AC0014544Epilepsy2CTD_human;HPO
TgeneSCN2AC0009952Febrile Convulsions1CTD_human;HPO