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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: 11568

FusionGeneSummary for EML6_SPTBN1

check button Fusion gene summary
Fusion gene informationFusion gene name: EML6_SPTBN1
Fusion gene ID: 11568
HgeneTgene
Gene symbol

EML6

SPTBN1

Gene ID

400954

6711

Gene nameechinoderm microtubule associated protein like 6spectrin beta, non-erythrocytic 1
Synonyms-ELF|HEL102|SPTB2|betaSpII
Cytomap

2p16.1

2p16.2

Type of geneprotein-codingprotein-coding
Descriptionechinoderm microtubule-associated protein-like 6EMAP-6spectrin beta chain, non-erythrocytic 1beta-G spectrinbeta-II spectrinbeta-fodrinbeta-spectrin 2beta-spectrin IIbeta-spectrin non-erythrocytic 1embryonic liver beta-fodrinepididymis luminal protein 102fodrin beta chainspectrin beta chain, brain
Modification date2018052320180522
UniProtAcc

Q6ZMW3

Q01082

Ensembl transtripts involved in fusion geneENST00000356458, ENST00000490828, 
ENST00000356805, ENST00000333896, 
Fusion gene scores* DoF score1 X 1 X 1=113 X 13 X 6=1014
# samples 115
** MAII scorelog2(1/1*10)=3.32192809488736log2(15/1014*10)=-2.75702324650746
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: EML6 [Title/Abstract] AND SPTBN1 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationTumor suppressor gene involved fusion gene, in-frame but not retained their domain.
Tumor suppressor gene involved fusion gene, retained protein feature but frameshift.
DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain.
* 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
TCGARVPCPGTCGA-SR-A6MY-01AEML6chr2

54952395

+SPTBN1chr2

54893052

+
* 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
In-frameENST00000356458ENST00000356805EML6chr2

54952395

+SPTBN1chr2

54893052

+
5CDS-intronENST00000356458ENST00000333896EML6chr2

54952395

+SPTBN1chr2

54893052

+
intron-3CDSENST00000490828ENST00000356805EML6chr2

54952395

+SPTBN1chr2

54893052

+
intron-intronENST00000490828ENST00000333896EML6chr2

54952395

+SPTBN1chr2

54893052

+

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FusionProtFeatures for EML6_SPTBN1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
EML6

Q6ZMW3

SPTBN1

Q01082

May modify the assembly dynamics of microtubules, suchthat microtubules are slightly longer, but more dynamic.{ECO:0000250}. Fodrin, which seems to be involved in secretion,interacts with calmodulin in a calcium-dependent manner and isthus candidate for the calcium-dependent movement of thecytoskeleton at the membrane.

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
TgeneSPTBN1chr2:54952395chr2:54893052ENST00000333896+031173_278-1292156DomainCalponin-homology (CH) 2
TgeneSPTBN1chr2:54952395chr2:54893052ENST00000333896+0312197_2307-1292156DomainPH
TgeneSPTBN1chr2:54952395chr2:54893052ENST00000333896+03154_158-1292156DomainCalponin-homology (CH) 1
TgeneSPTBN1chr2:54952395chr2:54893052ENST00000333896+0312_275-1292156RegionNote=Actin-binding
TgeneSPTBN1chr2:54952395chr2:54893052ENST00000333896+0311063_1166-1292156RepeatSpectrin 8
TgeneSPTBN1chr2:54952395chr2:54893052ENST00000333896+0311170_1258-1292156RepeatSpectrin 9
TgeneSPTBN1chr2:54952395chr2:54893052ENST00000333896+0311276_1376-1292156RepeatSpectrin 10
TgeneSPTBN1chr2:54952395chr2:54893052ENST00000333896+0311381_1482-1292156RepeatSpectrin 11
TgeneSPTBN1chr2:54952395chr2:54893052ENST00000333896+0311486_1590-1292156RepeatSpectrin 12
TgeneSPTBN1chr2:54952395chr2:54893052ENST00000333896+0311592_1696-1292156RepeatSpectrin 13
TgeneSPTBN1chr2:54952395chr2:54893052ENST00000333896+0311698_1801-1292156RepeatSpectrin 14
TgeneSPTBN1chr2:54952395chr2:54893052ENST00000333896+0311805_1907-1292156RepeatSpectrin 15
TgeneSPTBN1chr2:54952395chr2:54893052ENST00000333896+0311914_2014-1292156RepeatSpectrin 16
TgeneSPTBN1chr2:54952395chr2:54893052ENST00000333896+0312018_2097-1292156RepeatSpectrin 17
TgeneSPTBN1chr2:54952395chr2:54893052ENST00000333896+031303_411-1292156RepeatSpectrin 1
TgeneSPTBN1chr2:54952395chr2:54893052ENST00000333896+031423_525-1292156RepeatSpectrin 2
TgeneSPTBN1chr2:54952395chr2:54893052ENST00000333896+031530_636-1292156RepeatSpectrin 3
TgeneSPTBN1chr2:54952395chr2:54893052ENST00000333896+031639_742-1292156RepeatSpectrin 4
TgeneSPTBN1chr2:54952395chr2:54893052ENST00000333896+031745_847-1292156RepeatSpectrin 5
TgeneSPTBN1chr2:54952395chr2:54893052ENST00000333896+031850_952-1292156RepeatSpectrin 6
TgeneSPTBN1chr2:54952395chr2:54893052ENST00000333896+031957_1060-1292156RepeatSpectrin 7

- In-frame and not-retained protein feature among the 13 regional features.
>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneEML6chr2:54952395chr2:54893052ENST00000356458+1411355_1358651959Compositional biasNote=Poly-Lys
HgeneEML6chr2:54952395chr2:54893052ENST00000356458+1411038_1077651959RepeatNote=WD 17
HgeneEML6chr2:54952395chr2:54893052ENST00000356458+141104_145651959RepeatNote=WD 2
HgeneEML6chr2:54952395chr2:54893052ENST00000356458+1411080_1120651959RepeatNote=WD 18
HgeneEML6chr2:54952395chr2:54893052ENST00000356458+1411191_1230651959RepeatNote=WD 19
HgeneEML6chr2:54952395chr2:54893052ENST00000356458+1411236_1276651959RepeatNote=WD 20
HgeneEML6chr2:54952395chr2:54893052ENST00000356458+1411412_1456651959RepeatNote=WD 21
HgeneEML6chr2:54952395chr2:54893052ENST00000356458+1411460_1501651959RepeatNote=WD 22
HgeneEML6chr2:54952395chr2:54893052ENST00000356458+141148_187651959RepeatNote=WD 3
HgeneEML6chr2:54952395chr2:54893052ENST00000356458+1411504_1543651959RepeatNote=WD 23
HgeneEML6chr2:54952395chr2:54893052ENST00000356458+1411553_1591651959RepeatNote=WD 24
HgeneEML6chr2:54952395chr2:54893052ENST00000356458+1411593_1638651959RepeatNote=WD 25
HgeneEML6chr2:54952395chr2:54893052ENST00000356458+1411685_1724651959RepeatNote=WD 26
HgeneEML6chr2:54952395chr2:54893052ENST00000356458+1411726_1767651959RepeatNote=WD 27
HgeneEML6chr2:54952395chr2:54893052ENST00000356458+1411768_1807651959RepeatNote=WD 28
HgeneEML6chr2:54952395chr2:54893052ENST00000356458+1411880_1919651959RepeatNote=WD 29
HgeneEML6chr2:54952395chr2:54893052ENST00000356458+1411925_1958651959RepeatNote=WD 30
HgeneEML6chr2:54952395chr2:54893052ENST00000356458+141195_233651959RepeatNote=WD 4
HgeneEML6chr2:54952395chr2:54893052ENST00000356458+141235_273651959RepeatNote=WD 5
HgeneEML6chr2:54952395chr2:54893052ENST00000356458+141280_321651959RepeatNote=WD 6
HgeneEML6chr2:54952395chr2:54893052ENST00000356458+141323_362651959RepeatNote=WD 7
HgeneEML6chr2:54952395chr2:54893052ENST00000356458+141364_403651959RepeatNote=WD 8
HgeneEML6chr2:54952395chr2:54893052ENST00000356458+141406_445651959RepeatNote=WD 9
HgeneEML6chr2:54952395chr2:54893052ENST00000356458+141561_601651959RepeatNote=WD 10
HgeneEML6chr2:54952395chr2:54893052ENST00000356458+14159_100651959RepeatNote=WD 1
HgeneEML6chr2:54952395chr2:54893052ENST00000356458+141725_766651959RepeatNote=WD 11
HgeneEML6chr2:54952395chr2:54893052ENST00000356458+141770_811651959RepeatNote=WD 12
HgeneEML6chr2:54952395chr2:54893052ENST00000356458+141814_853651959RepeatNote=WD 13
HgeneEML6chr2:54952395chr2:54893052ENST00000356458+141861_900651959RepeatNote=WD 14
HgeneEML6chr2:54952395chr2:54893052ENST00000356458+141901_940651959RepeatNote=WD 15
HgeneEML6chr2:54952395chr2:54893052ENST00000356458+141996_1035651959RepeatNote=WD 16
TgeneSPTBN1chr2:54952395chr2:54893052ENST00000356805+3236173_27822192365DomainCalponin-homology (CH) 2
TgeneSPTBN1chr2:54952395chr2:54893052ENST00000356805+32362197_230722192365DomainPH
TgeneSPTBN1chr2:54952395chr2:54893052ENST00000356805+323654_15822192365DomainCalponin-homology (CH) 1
TgeneSPTBN1chr2:54952395chr2:54893052ENST00000356805+32362_27522192365RegionNote=Actin-binding
TgeneSPTBN1chr2:54952395chr2:54893052ENST00000356805+32361063_116622192365RepeatSpectrin 8
TgeneSPTBN1chr2:54952395chr2:54893052ENST00000356805+32361170_125822192365RepeatSpectrin 9
TgeneSPTBN1chr2:54952395chr2:54893052ENST00000356805+32361276_137622192365RepeatSpectrin 10
TgeneSPTBN1chr2:54952395chr2:54893052ENST00000356805+32361381_148222192365RepeatSpectrin 11
TgeneSPTBN1chr2:54952395chr2:54893052ENST00000356805+32361486_159022192365RepeatSpectrin 12
TgeneSPTBN1chr2:54952395chr2:54893052ENST00000356805+32361592_169622192365RepeatSpectrin 13
TgeneSPTBN1chr2:54952395chr2:54893052ENST00000356805+32361698_180122192365RepeatSpectrin 14
TgeneSPTBN1chr2:54952395chr2:54893052ENST00000356805+32361805_190722192365RepeatSpectrin 15
TgeneSPTBN1chr2:54952395chr2:54893052ENST00000356805+32361914_201422192365RepeatSpectrin 16
TgeneSPTBN1chr2:54952395chr2:54893052ENST00000356805+32362018_209722192365RepeatSpectrin 17
TgeneSPTBN1chr2:54952395chr2:54893052ENST00000356805+3236303_41122192365RepeatSpectrin 1
TgeneSPTBN1chr2:54952395chr2:54893052ENST00000356805+3236423_52522192365RepeatSpectrin 2
TgeneSPTBN1chr2:54952395chr2:54893052ENST00000356805+3236530_63622192365RepeatSpectrin 3
TgeneSPTBN1chr2:54952395chr2:54893052ENST00000356805+3236639_74222192365RepeatSpectrin 4
TgeneSPTBN1chr2:54952395chr2:54893052ENST00000356805+3236745_84722192365RepeatSpectrin 5
TgeneSPTBN1chr2:54952395chr2:54893052ENST00000356805+3236850_95222192365RepeatSpectrin 6
TgeneSPTBN1chr2:54952395chr2:54893052ENST00000356805+3236957_106022192365RepeatSpectrin 7


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FusionGeneSequence for EML6_SPTBN1


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 EML6_SPTBN1


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
EML6EGFR, TUBB3, TUBB2BSPTBN1EPB41L3, DCTN1, NF2, GRIA2, CTNNA1, SNCA, PJA1, MAPK14, MEF2C, STAT1, PLCB1, PYGO1, PACSIN1, SREBF2, GRB2, PLEKHA5, APC, CEBPA, SRRM2, AGO3, CDC5L, DISC1, CEP63, TRAF3IP1, SH3BP5, TNIK, ARRB2, SIRT7, CUL3, CDK2, CUL1, COPS5, NEDD8, GRK5, CBL, UBASH3B, PIK3R2, SHC1, AP2M1, SPTAN1, RBM8A, NENF, RABL2A, CDH2, DDX19A, SOD1, PSMA7, TXN2, POU2F1, DBN1, PRKCDBP, HSPA5, ESR1, EIF4A3, MAGOH, SMURF1, FN1, SMAD9, ZNF512B, UBL4A, SMAD3, ANK1, TPM1, TGFBR1, SMAD2, SMAD4, MYBL2, SVIL, PAN2, KIAA0101, FBXO6, EIF2B2, MOB4, TNKS1BP1, RPA1, RPA2, RPA3, TUBG1, WEE1, HSPB1, UNK, NCAPD3, MCM5, NXF1, NTRK1, PTEN, EWSR1, HIST1H3E, ADD1, CAPZA2, FLNA, MYH9, MYO1C, PPP1CB, IQGAP1, PDLIM7, KATNA1, SYNPO, MAPRE1, LIMA1, ANLN, MYO5C, MYO19, MYO18A, SNW1, FBXW7, THAP3, SPTBN1, GLTSCR2, SEPT8, COPB1, ZNF251, STXBP1, GOLGA6L10, EIF3H, CDH1, PDP1, PPM1B, PTP4A2, STYXL1, CYLD, TRIM25, BRCA1, TES


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with
TgeneSPTBN1chr2:54952395chr2:54893052ENST00000333896+0311563_2093-1292156ANK2


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with
TgeneSPTBN1chr2:54952395chr2:54893052ENST00000356805+32361563_209322192365ANK2


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


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RelatedDrugs for EML6_SPTBN1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneSPTBN1Q01082DB01373CalciumSpectrin beta chain, non-erythrocytic 1small moleculeapproved|nutraceutical

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RelatedDiseases for EML6_SPTBN1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneSPTBN1C0043094Weight Gain1CTD_human