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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: 35834

FusionGeneSummary for SPTAN1_GLE1

check button Fusion gene summary
Fusion gene informationFusion gene name: SPTAN1_GLE1
Fusion gene ID: 35834
HgeneTgene
Gene symbol

SPTAN1

GLE1

Gene ID

6709

2733

Gene namespectrin alpha, non-erythrocytic 1GLE1, RNA export mediator
SynonymsEIEE5|NEAS|SPTA2GLE1L|LCCS|LCCS1|hGLE1
Cytomap

9q34.11

9q34.11

Type of geneprotein-codingprotein-coding
Descriptionspectrin alpha chain, non-erythrocytic 1alpha-II spectrinalpha-fodrinfodrin alpha chainspectrin, non-erythroid alpha chainspectrin, non-erythroid alpha subunitnucleoporin GLE1GLE1 RNA export mediator homologGLE1 RNA export mediator-likeGLE1-like proteinGLE1-like, RNA export mediator
Modification date2018052920180523
UniProtAcc

Q13813

Q53GS7

Ensembl transtripts involved in fusion geneENST00000358161, ENST00000372739, 
ENST00000372731, ENST00000475367, 
ENST00000309971, ENST00000372770, 
ENST00000539582, ENST00000494417, 
Fusion gene scores* DoF score17 X 15 X 10=25503 X 3 X 4=36
# samples 214
** MAII scorelog2(21/2550*10)=-3.6020360140801
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(4/36*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: SPTAN1 [Title/Abstract] AND GLE1 [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

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
TCGARVSTADTCGA-HU-A4H2-01ASPTAN1chr9

131314975

+GLE1chr9

131295792

+
TCGARVUCECTCGA-D1-A3JP-01ASPTAN1chr9

131337624

+GLE1chr9

131284947

+
* 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
5UTR-3CDSENST00000358161ENST00000309971SPTAN1chr9

131314975

+GLE1chr9

131295792

+
5UTR-3CDSENST00000358161ENST00000372770SPTAN1chr9

131314975

+GLE1chr9

131295792

+
5UTR-3CDSENST00000358161ENST00000539582SPTAN1chr9

131314975

+GLE1chr9

131295792

+
5UTR-3UTRENST00000358161ENST00000494417SPTAN1chr9

131314975

+GLE1chr9

131295792

+
5UTR-3CDSENST00000372739ENST00000309971SPTAN1chr9

131314975

+GLE1chr9

131295792

+
5UTR-3CDSENST00000372739ENST00000372770SPTAN1chr9

131314975

+GLE1chr9

131295792

+
5UTR-3CDSENST00000372739ENST00000539582SPTAN1chr9

131314975

+GLE1chr9

131295792

+
5UTR-3UTRENST00000372739ENST00000494417SPTAN1chr9

131314975

+GLE1chr9

131295792

+
5UTR-3CDSENST00000372731ENST00000309971SPTAN1chr9

131314975

+GLE1chr9

131295792

+
5UTR-3CDSENST00000372731ENST00000372770SPTAN1chr9

131314975

+GLE1chr9

131295792

+
5UTR-3CDSENST00000372731ENST00000539582SPTAN1chr9

131314975

+GLE1chr9

131295792

+
5UTR-3UTRENST00000372731ENST00000494417SPTAN1chr9

131314975

+GLE1chr9

131295792

+
intron-3CDSENST00000475367ENST00000309971SPTAN1chr9

131314975

+GLE1chr9

131295792

+
intron-3CDSENST00000475367ENST00000372770SPTAN1chr9

131314975

+GLE1chr9

131295792

+
intron-3CDSENST00000475367ENST00000539582SPTAN1chr9

131314975

+GLE1chr9

131295792

+
intron-3UTRENST00000475367ENST00000494417SPTAN1chr9

131314975

+GLE1chr9

131295792

+
In-frameENST00000358161ENST00000309971SPTAN1chr9

131337624

+GLE1chr9

131284947

+
In-frameENST00000358161ENST00000372770SPTAN1chr9

131337624

+GLE1chr9

131284947

+
5CDS-intronENST00000358161ENST00000539582SPTAN1chr9

131337624

+GLE1chr9

131284947

+
5CDS-intronENST00000358161ENST00000494417SPTAN1chr9

131337624

+GLE1chr9

131284947

+
In-frameENST00000372739ENST00000309971SPTAN1chr9

131337624

+GLE1chr9

131284947

+
In-frameENST00000372739ENST00000372770SPTAN1chr9

131337624

+GLE1chr9

131284947

+
5CDS-intronENST00000372739ENST00000539582SPTAN1chr9

131337624

+GLE1chr9

131284947

+
5CDS-intronENST00000372739ENST00000494417SPTAN1chr9

131337624

+GLE1chr9

131284947

+
In-frameENST00000372731ENST00000309971SPTAN1chr9

131337624

+GLE1chr9

131284947

+
In-frameENST00000372731ENST00000372770SPTAN1chr9

131337624

+GLE1chr9

131284947

+
5CDS-intronENST00000372731ENST00000539582SPTAN1chr9

131337624

+GLE1chr9

131284947

+
5CDS-intronENST00000372731ENST00000494417SPTAN1chr9

131337624

+GLE1chr9

131284947

+
intron-3CDSENST00000475367ENST00000309971SPTAN1chr9

131337624

+GLE1chr9

131284947

+
intron-3CDSENST00000475367ENST00000372770SPTAN1chr9

131337624

+GLE1chr9

131284947

+
intron-intronENST00000475367ENST00000539582SPTAN1chr9

131337624

+GLE1chr9

131284947

+
intron-intronENST00000475367ENST00000494417SPTAN1chr9

131337624

+GLE1chr9

131284947

+

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FusionProtFeatures for SPTAN1_GLE1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SPTAN1

Q13813

GLE1

Q53GS7

Required for the export of mRNAs containing poly(A)tails from the nucleus into the cytoplasm. May be involved in theterminal step of the mRNA transport through the nuclear porecomplex (NPC). {ECO:0000269|PubMed:12668658,ECO:0000269|PubMed:16000379, ECO:0000269|PubMed:9618489}.

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
HgeneSPTAN1chr9:131337624chr9:131284947ENST00000372731+55645_1462172473RepeatSpectrin 1
HgeneSPTAN1chr9:131337624chr9:131284947ENST00000372739+55745_1462172478RepeatSpectrin 1
TgeneGLE1chr9:131337624chr9:131284947ENST00000309971+216151_277144699Coiled coilOntology_term=ECO:0000255
TgeneGLE1chr9:131337624chr9:131284947ENST00000309971+216305_356144699Coiled coilOntology_term=ECO:0000255
TgeneGLE1chr9:131337624chr9:131284947ENST00000372770+214151_277144660Coiled coilOntology_term=ECO:0000255
TgeneGLE1chr9:131337624chr9:131284947ENST00000372770+214305_356144660Coiled coilOntology_term=ECO:0000255
TgeneGLE1chr9:131337624chr9:131284947ENST00000309971+216444_483144699RegionNote=Mediates the shuttling between the nucleus and the cytoplasm
TgeneGLE1chr9:131337624chr9:131284947ENST00000372770+214444_483144660RegionNote=Mediates the shuttling between the nucleus and the cytoplasm

- In-frame and not-retained protein feature among the 13 regional features.
>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneSPTAN1chr9:131337624chr9:131284947ENST00000372731+5562336_23472172473Calcium binding1
HgeneSPTAN1chr9:131337624chr9:131284947ENST00000372731+5562379_23902172473Calcium binding2
HgeneSPTAN1chr9:131337624chr9:131284947ENST00000372739+5572336_23472172478Calcium binding1
HgeneSPTAN1chr9:131337624chr9:131284947ENST00000372739+5572379_23902172478Calcium binding2
HgeneSPTAN1chr9:131337624chr9:131284947ENST00000372731+5562323_23582172473DomainEF-hand 1
HgeneSPTAN1chr9:131337624chr9:131284947ENST00000372731+5562366_24012172473DomainEF-hand 2
HgeneSPTAN1chr9:131337624chr9:131284947ENST00000372731+5562404_24392172473DomainEF-hand 3
HgeneSPTAN1chr9:131337624chr9:131284947ENST00000372731+556967_10262172473DomainSH3
HgeneSPTAN1chr9:131337624chr9:131284947ENST00000372739+5572323_23582172478DomainEF-hand 1
HgeneSPTAN1chr9:131337624chr9:131284947ENST00000372739+5572366_24012172478DomainEF-hand 2
HgeneSPTAN1chr9:131337624chr9:131284947ENST00000372739+5572404_24392172478DomainEF-hand 3
HgeneSPTAN1chr9:131337624chr9:131284947ENST00000372739+557967_10262172478DomainSH3
HgeneSPTAN1chr9:131337624chr9:131284947ENST00000372731+5561096_11662172473RepeatSpectrin 10
HgeneSPTAN1chr9:131337624chr9:131284947ENST00000372731+5561233_13362172473RepeatSpectrin 11
HgeneSPTAN1chr9:131337624chr9:131284947ENST00000372731+5561339_14422172473RepeatSpectrin 12
HgeneSPTAN1chr9:131337624chr9:131284947ENST00000372731+5561446_15492172473RepeatSpectrin 13
HgeneSPTAN1chr9:131337624chr9:131284947ENST00000372731+556150_2512172473RepeatSpectrin 2
HgeneSPTAN1chr9:131337624chr9:131284947ENST00000372731+5561552_16562172473RepeatSpectrin 14
HgeneSPTAN1chr9:131337624chr9:131284947ENST00000372731+5561659_17622172473RepeatSpectrin 15
HgeneSPTAN1chr9:131337624chr9:131284947ENST00000372731+5561764_18682172473RepeatSpectrin 16
HgeneSPTAN1chr9:131337624chr9:131284947ENST00000372731+5561871_19742172473RepeatSpectrin 17
HgeneSPTAN1chr9:131337624chr9:131284947ENST00000372731+5561978_20812172473RepeatSpectrin 18
HgeneSPTAN1chr9:131337624chr9:131284947ENST00000372731+5562092_21942172473RepeatSpectrin 19
HgeneSPTAN1chr9:131337624chr9:131284947ENST00000372731+5562206_23102172473RepeatSpectrin 20
HgeneSPTAN1chr9:131337624chr9:131284947ENST00000372731+556256_3582172473RepeatSpectrin 3
HgeneSPTAN1chr9:131337624chr9:131284947ENST00000372731+556361_4652172473RepeatSpectrin 4
HgeneSPTAN1chr9:131337624chr9:131284947ENST00000372731+556468_5702172473RepeatSpectrin 5
HgeneSPTAN1chr9:131337624chr9:131284947ENST00000372731+556574_6762172473RepeatSpectrin 6
HgeneSPTAN1chr9:131337624chr9:131284947ENST00000372731+556679_7812172473RepeatSpectrin 7
HgeneSPTAN1chr9:131337624chr9:131284947ENST00000372731+556785_8882172473RepeatSpectrin 8
HgeneSPTAN1chr9:131337624chr9:131284947ENST00000372731+556891_9692172473RepeatSpectrin 9
HgeneSPTAN1chr9:131337624chr9:131284947ENST00000372739+5571096_11662172478RepeatSpectrin 10
HgeneSPTAN1chr9:131337624chr9:131284947ENST00000372739+5571233_13362172478RepeatSpectrin 11
HgeneSPTAN1chr9:131337624chr9:131284947ENST00000372739+5571339_14422172478RepeatSpectrin 12
HgeneSPTAN1chr9:131337624chr9:131284947ENST00000372739+5571446_15492172478RepeatSpectrin 13
HgeneSPTAN1chr9:131337624chr9:131284947ENST00000372739+557150_2512172478RepeatSpectrin 2
HgeneSPTAN1chr9:131337624chr9:131284947ENST00000372739+5571552_16562172478RepeatSpectrin 14
HgeneSPTAN1chr9:131337624chr9:131284947ENST00000372739+5571659_17622172478RepeatSpectrin 15
HgeneSPTAN1chr9:131337624chr9:131284947ENST00000372739+5571764_18682172478RepeatSpectrin 16
HgeneSPTAN1chr9:131337624chr9:131284947ENST00000372739+5571871_19742172478RepeatSpectrin 17
HgeneSPTAN1chr9:131337624chr9:131284947ENST00000372739+5571978_20812172478RepeatSpectrin 18
HgeneSPTAN1chr9:131337624chr9:131284947ENST00000372739+5572092_21942172478RepeatSpectrin 19
HgeneSPTAN1chr9:131337624chr9:131284947ENST00000372739+5572206_23102172478RepeatSpectrin 20
HgeneSPTAN1chr9:131337624chr9:131284947ENST00000372739+557256_3582172478RepeatSpectrin 3
HgeneSPTAN1chr9:131337624chr9:131284947ENST00000372739+557361_4652172478RepeatSpectrin 4
HgeneSPTAN1chr9:131337624chr9:131284947ENST00000372739+557468_5702172478RepeatSpectrin 5
HgeneSPTAN1chr9:131337624chr9:131284947ENST00000372739+557574_6762172478RepeatSpectrin 6
HgeneSPTAN1chr9:131337624chr9:131284947ENST00000372739+557679_7812172478RepeatSpectrin 7
HgeneSPTAN1chr9:131337624chr9:131284947ENST00000372739+557785_8882172478RepeatSpectrin 8
HgeneSPTAN1chr9:131337624chr9:131284947ENST00000372739+557891_9692172478RepeatSpectrin 9


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FusionGeneSequence for SPTAN1_GLE1


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 SPTAN1_GLE1


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
SPTAN1FANCA, FANCC, FANCG, ERCC4, PTOV1, PIN4, DDX24, TSSC4, DES, ABL1, NEFL, SHANK3, SHANK1, EPB41, SPTB, GRIA2, EPB42, PLEC, VIM, LMNB1, ACTA1, MSN, TAF10, SOS1, STAT1, PLEKHA5, EMD, FANCF, HES1, TERF1, POT1, AGO3, TJP1, DISC1, CEP63, EXOC1, MAPK6, ARRB1, ARRB2, SIRT7, ERG, CUL3, CDK2, CUL1, COPS5, NEDD8, GRK5, CBL, UBASH3B, SHC1, SPTBN1, MYH9, SPTBN2, SARS2, PRKCDBP, PPT2, ILF2, GSPT1, RABL2A, HNRNPR, STRIP1, SFXN3, KIAA0368, MCAT, DNAJA1, HSPA5, HNRNPK, CLPTM1L, MAPRE1, DBN1, ACTA2, NENF, DDX19A, ESR1, EIF4A3, MAGOH, SMURF1, EVL, TES, HSP90AA1, HSP90AB1, MLH1, GRIN1, GRIN2A, GRIN2B, UBL4A, SVIL, PAN2, CAPN1, CASP3, CASP7, MAPK9, SAV1, CRYZ, EHBP1L1, NUP188, PLS1, PPFIA1, PPP4R1, RPS24, FAU, GPHN, PTBP1, RPA3, RPA2, RPA1, ZBTB1, STAU1, CEP57, CEP76, VCP, CANX, DHX9, NCAPD3, NUCB2, PXDN, PXDNL, RPN2, SF3B3, SPTBN5, NTRK1, PDE4D, PTEN, MED4, MED20, EWSR1, HIST1H3E, ADD1, CAPZA2, CENPE, FLNA, GAK, MYH7, MYO1C, PPP1CB, VCL, IQGAP1, PDLIM7, SYNPO, LIMA1, ANLN, MYO5C, MYO19, MYO18A, ZSCAN26, GAN, SNW1, CDC5L, U2AF2, CDH1, PDP1, PPM1B, PTP4A2, STYXL1, SPTBN4, KALRN, KARS, AKIP1, TAF1, ZNF333, FANCD2, CYLD, LASP1, TRIM25, BRCA1GLE1NUP155, KRT10, UXT, EIF3F, ELAVL1, CCDC8, RNF2, HIST1H1A, C9orf41, IER2, GLE1, IFI16, NUP35, KPNB1, NUP153, NUP107, SEH1L, MEX3C, NXF2, NXF1, HIST1H1E, RRS1


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with
TgeneGLE1chr9:131337624chr9:131284947ENST00000309971+216656_698144699NUPL2
TgeneGLE1chr9:131337624chr9:131284947ENST00000372770+214656_698144660NUPL2


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with
TgeneGLE1chr9:131337624chr9:131284947ENST00000309971+2161_29144699NUP155
TgeneGLE1chr9:131337624chr9:131284947ENST00000372770+2141_29144660NUP155


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


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RelatedDrugs for SPTAN1_GLE1


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 SPTAN1_GLE1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSPTAN1C0524851Neurodegenerative Disorders1CTD_human
TgeneGLE1C1854664LETHAL CONGENITAL CONTRACTURE SYNDROME 11CTD_human;ORPHANET;UNIPROT
TgeneGLE1C2678471Lethal Arthrogryposis With Anterior Horn Cell Disease1CTD_human;ORPHANET;UNIPROT