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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: 35857

FusionGeneSummary for SPTBN1_STX8

check button Fusion gene summary
Fusion gene informationFusion gene name: SPTBN1_STX8
Fusion gene ID: 35857
HgeneTgene
Gene symbol

SPTBN1

STX8

Gene ID

6711

9482

Gene namespectrin beta, non-erythrocytic 1syntaxin 8
SynonymsELF|HEL102|SPTB2|betaSpIICARB
Cytomap

2p16.2

17p13.1

Type of geneprotein-codingprotein-coding
Descriptionspectrin 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 syntaxin-8CIP-1-associated regulator of cyclin B
Modification date2018052220180523
UniProtAcc

Q01082

Q9UNK0

Ensembl transtripts involved in fusion geneENST00000356805, ENST00000333896, 
ENST00000306357, ENST00000574431, 
ENST00000573373, 
Fusion gene scores* DoF score13 X 12 X 5=7809 X 4 X 7=252
# samples 159
** MAII scorelog2(15/780*10)=-2.37851162325373
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(9/252*10)=-1.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SPTBN1 [Title/Abstract] AND STX8 [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.
* 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
TgeneSTX8

GO:0045022

early endosome to late endosome transport

10564279

TgeneSTX8

GO:1903076

regulation of protein localization to plasma membrane

18570918


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
TCGARVSKCMTCGA-D3-A2JA-06ASPTBN1chr2

54753703

+STX8chr17

9281970

-
* 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-frameENST00000356805ENST00000306357SPTBN1chr2

54753703

+STX8chr17

9281970

-
In-frameENST00000356805ENST00000574431SPTBN1chr2

54753703

+STX8chr17

9281970

-
5CDS-intronENST00000356805ENST00000573373SPTBN1chr2

54753703

+STX8chr17

9281970

-
intron-3CDSENST00000333896ENST00000306357SPTBN1chr2

54753703

+STX8chr17

9281970

-
intron-3CDSENST00000333896ENST00000574431SPTBN1chr2

54753703

+STX8chr17

9281970

-
intron-intronENST00000333896ENST00000573373SPTBN1chr2

54753703

+STX8chr17

9281970

-

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FusionProtFeatures for SPTBN1_STX8


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SPTBN1

Q01082

STX8

Q9UNK0

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. Vesicle trafficking protein that functions in the earlysecretory pathway, possibly by mediating retrograde transport fromcis-Golgi membranes to the ER.

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
TgeneSTX8chr2:54753703chr17:9281970ENST00000306357-58233_236180237Topological domainVesicular
TgeneSTX8chr2:54753703chr17:9281970ENST00000306357-58216_232180237TransmembraneHelical%3B Anchor for type IV membrane protein

- In-frame and not-retained protein feature among the 13 regional features.
>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneSPTBN1chr2:54753703chr17:9281970ENST00000333896+131173_278-1292156DomainCalponin-homology (CH) 2
HgeneSPTBN1chr2:54753703chr17:9281970ENST00000333896+1312197_2307-1292156DomainPH
HgeneSPTBN1chr2:54753703chr17:9281970ENST00000333896+13154_158-1292156DomainCalponin-homology (CH) 1
HgeneSPTBN1chr2:54753703chr17:9281970ENST00000356805+236173_278492365DomainCalponin-homology (CH) 2
HgeneSPTBN1chr2:54753703chr17:9281970ENST00000356805+2362197_2307492365DomainPH
HgeneSPTBN1chr2:54753703chr17:9281970ENST00000356805+23654_158492365DomainCalponin-homology (CH) 1
HgeneSPTBN1chr2:54753703chr17:9281970ENST00000333896+1312_275-1292156RegionNote=Actin-binding
HgeneSPTBN1chr2:54753703chr17:9281970ENST00000356805+2362_275492365RegionNote=Actin-binding
HgeneSPTBN1chr2:54753703chr17:9281970ENST00000333896+1311063_1166-1292156RepeatSpectrin 8
HgeneSPTBN1chr2:54753703chr17:9281970ENST00000333896+1311170_1258-1292156RepeatSpectrin 9
HgeneSPTBN1chr2:54753703chr17:9281970ENST00000333896+1311276_1376-1292156RepeatSpectrin 10
HgeneSPTBN1chr2:54753703chr17:9281970ENST00000333896+1311381_1482-1292156RepeatSpectrin 11
HgeneSPTBN1chr2:54753703chr17:9281970ENST00000333896+1311486_1590-1292156RepeatSpectrin 12
HgeneSPTBN1chr2:54753703chr17:9281970ENST00000333896+1311592_1696-1292156RepeatSpectrin 13
HgeneSPTBN1chr2:54753703chr17:9281970ENST00000333896+1311698_1801-1292156RepeatSpectrin 14
HgeneSPTBN1chr2:54753703chr17:9281970ENST00000333896+1311805_1907-1292156RepeatSpectrin 15
HgeneSPTBN1chr2:54753703chr17:9281970ENST00000333896+1311914_2014-1292156RepeatSpectrin 16
HgeneSPTBN1chr2:54753703chr17:9281970ENST00000333896+1312018_2097-1292156RepeatSpectrin 17
HgeneSPTBN1chr2:54753703chr17:9281970ENST00000333896+131303_411-1292156RepeatSpectrin 1
HgeneSPTBN1chr2:54753703chr17:9281970ENST00000333896+131423_525-1292156RepeatSpectrin 2
HgeneSPTBN1chr2:54753703chr17:9281970ENST00000333896+131530_636-1292156RepeatSpectrin 3
HgeneSPTBN1chr2:54753703chr17:9281970ENST00000333896+131639_742-1292156RepeatSpectrin 4
HgeneSPTBN1chr2:54753703chr17:9281970ENST00000333896+131745_847-1292156RepeatSpectrin 5
HgeneSPTBN1chr2:54753703chr17:9281970ENST00000333896+131850_952-1292156RepeatSpectrin 6
HgeneSPTBN1chr2:54753703chr17:9281970ENST00000333896+131957_1060-1292156RepeatSpectrin 7
HgeneSPTBN1chr2:54753703chr17:9281970ENST00000356805+2361063_1166492365RepeatSpectrin 8
HgeneSPTBN1chr2:54753703chr17:9281970ENST00000356805+2361170_1258492365RepeatSpectrin 9
HgeneSPTBN1chr2:54753703chr17:9281970ENST00000356805+2361276_1376492365RepeatSpectrin 10
HgeneSPTBN1chr2:54753703chr17:9281970ENST00000356805+2361381_1482492365RepeatSpectrin 11
HgeneSPTBN1chr2:54753703chr17:9281970ENST00000356805+2361486_1590492365RepeatSpectrin 12
HgeneSPTBN1chr2:54753703chr17:9281970ENST00000356805+2361592_1696492365RepeatSpectrin 13
HgeneSPTBN1chr2:54753703chr17:9281970ENST00000356805+2361698_1801492365RepeatSpectrin 14
HgeneSPTBN1chr2:54753703chr17:9281970ENST00000356805+2361805_1907492365RepeatSpectrin 15
HgeneSPTBN1chr2:54753703chr17:9281970ENST00000356805+2361914_2014492365RepeatSpectrin 16
HgeneSPTBN1chr2:54753703chr17:9281970ENST00000356805+2362018_2097492365RepeatSpectrin 17
HgeneSPTBN1chr2:54753703chr17:9281970ENST00000356805+236303_411492365RepeatSpectrin 1
HgeneSPTBN1chr2:54753703chr17:9281970ENST00000356805+236423_525492365RepeatSpectrin 2
HgeneSPTBN1chr2:54753703chr17:9281970ENST00000356805+236530_636492365RepeatSpectrin 3
HgeneSPTBN1chr2:54753703chr17:9281970ENST00000356805+236639_742492365RepeatSpectrin 4
HgeneSPTBN1chr2:54753703chr17:9281970ENST00000356805+236745_847492365RepeatSpectrin 5
HgeneSPTBN1chr2:54753703chr17:9281970ENST00000356805+236850_952492365RepeatSpectrin 6
HgeneSPTBN1chr2:54753703chr17:9281970ENST00000356805+236957_1060492365RepeatSpectrin 7
TgeneSTX8chr2:54753703chr17:9281970ENST00000306357-5842_65180237Coiled coilOntology_term=ECO:0000255
TgeneSTX8chr2:54753703chr17:9281970ENST00000306357-58145_207180237Domaint-SNARE coiled-coil homology
TgeneSTX8chr2:54753703chr17:9281970ENST00000306357-581_215180237Topological domainCytoplasmic


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FusionGeneSequence for SPTBN1_STX8


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.
>In-frame_SPTBN1_ENST00000356805_chr2_54753703_+_STX8_ENST00000306357_chr17_9281970_-_106aa
MTTTVATDYDNIEIQQQYSDVNNRWDVDDWDNENSSARLFERSRIKALAEIIDDLANLVENTDEKLRNETRRVNMVDRKSASCGMIMVIL

>In-frame_SPTBN1_ENST00000356805_chr2_54753703_+_STX8_ENST00000574431_chr17_9281970_-_106aa
MTTTVATDYDNIEIQQQYSDVNNRWDVDDWDNENSSARLFERSRIKALAEIIDDLANLVENTDEKLRNETRRVNMVDRKSASCGMIMVIL


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_SPTBN1_ENST00000356805_chr2_54753703_+_STX8_ENST00000306357_chr17_9281970_-_318nt
ATGACGACCACAGTAGCCACAGACTATGACAACATTGAGATCCAGCAGCAGTACAGTGATGTCAACAACCGCTGGGATGTCGACGACTGG
GACAATGAGAACAGCTCTGCGCGGCTTTTTGAGCGGTCCCGCATCAAGGCTCTGGCAGAGATAATTGACGACCTTGCCAACCTAGTGGAG
AACACAGATGAAAAACTTCGCAATGAAACCAGGCGGGTAAACATGGTGGACAGAAAGTCAGCCTCTTGTGGGATGATCATGGTGATTTTA

>In-frame_SPTBN1_ENST00000356805_chr2_54753703_+_STX8_ENST00000574431_chr17_9281970_-_318nt
ATGACGACCACAGTAGCCACAGACTATGACAACATTGAGATCCAGCAGCAGTACAGTGATGTCAACAACCGCTGGGATGTCGACGACTGG
GACAATGAGAACAGCTCTGCGCGGCTTTTTGAGCGGTCCCGCATCAAGGCTCTGGCAGAGATAATTGACGACCTTGCCAACCTAGTGGAG
AACACAGATGAAAAACTTCGCAATGAAACCAGGCGGGTAAACATGGTGGACAGAAAGTCAGCCTCTTGTGGGATGATCATGGTGATTTTA


* Fusion transcript sequences (Full-length transcript).
>In-frame_SPTBN1_ENST00000356805_chr2_54753703_+_STX8_ENST00000306357_chr17_9281970_-_706nt
GGAATCAGTGCCGCTGTTGCCGTGCAGGCTGCGGATTCCTCCAGTCCCTCCCTCGGCCGCCTCTCCTCCCGGAGCGAGCGCGCAGCCCTG
CGCAGCAGCGCCCACTGGTCCCGTCCTGTGAGCCCCGGCCCCAGCCGCGGACAGACCCGCGGAGTCGCCTCCCGGCCCACCCGCCCGGCC
GCCGAGGAGCGGGAGGAGGACGGGACCCCGGCGCCCCCACCCCATCCCCGGGAGAACTCTAAGAAGGAGCTGATGTGGAGGAGCAGCTGA
GACAGTTCAAGATGACGACCACAGTAGCCACAGACTATGACAACATTGAGATCCAGCAGCAGTACAGTGATGTCAACAACCGCTGGGATG
TCGACGACTGGGACAATGAGAACAGCTCTGCGCGGCTTTTTGAGCGGTCCCGCATCAAGGCTCTGGCAGAGATAATTGACGACCTTGCCA
ACCTAGTGGAGAACACAGATGAAAAACTTCGCAATGAAACCAGGCGGGTAAACATGGTGGACAGAAAGTCAGCCTCTTGTGGGATGATCA
TGGTGATTTTACTGCTGCTTGTGGCTATCGTGGTTGTTGCAGTCTGGCCGACCAACTGATGGCAGTAAAGAGACCACCAGCAGTGACACC

>In-frame_SPTBN1_ENST00000356805_chr2_54753703_+_STX8_ENST00000574431_chr17_9281970_-_690nt
GGAATCAGTGCCGCTGTTGCCGTGCAGGCTGCGGATTCCTCCAGTCCCTCCCTCGGCCGCCTCTCCTCCCGGAGCGAGCGCGCAGCCCTG
CGCAGCAGCGCCCACTGGTCCCGTCCTGTGAGCCCCGGCCCCAGCCGCGGACAGACCCGCGGAGTCGCCTCCCGGCCCACCCGCCCGGCC
GCCGAGGAGCGGGAGGAGGACGGGACCCCGGCGCCCCCACCCCATCCCCGGGAGAACTCTAAGAAGGAGCTGATGTGGAGGAGCAGCTGA
GACAGTTCAAGATGACGACCACAGTAGCCACAGACTATGACAACATTGAGATCCAGCAGCAGTACAGTGATGTCAACAACCGCTGGGATG
TCGACGACTGGGACAATGAGAACAGCTCTGCGCGGCTTTTTGAGCGGTCCCGCATCAAGGCTCTGGCAGAGATAATTGACGACCTTGCCA
ACCTAGTGGAGAACACAGATGAAAAACTTCGCAATGAAACCAGGCGGGTAAACATGGTGGACAGAAAGTCAGCCTCTTGTGGGATGATCA
TGGTGATTTTACTGCTGCTTGTGGCTATCGTGGTTGTTGCAGTCTGGCCGACCAACTGATGGCAGTAAAGAGACCACCAGCAGTGACACC


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FusionGenePPI for SPTBN1_STX8


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
SPTBN1EPB41L3, 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, TESSTX8VTI1B, CREB3, NAPA, VTI1A, STX7, VAMP8, HECTD3, NSF, CALM1, ATP6V1B1, CLN8, STX4, VAMP4, VAMP3, VAMP7, STX6, SRPRB, STX12, CLEC12A, STX3, CEP170, NAPG, TMEM171, STX18, DTNBP1, AP2M1, LPAR1, CEP164, TMEM17, TMEM216, ERRFI1, SEC22B, STX11, STXBP6, CLINT1, STAMBPL1, AP1S2, IPPK, GDPD5, ASPH, MED21, MAP7D2, GPR156, TRDN, LMNA


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
HgeneSPTBN1chr2:54753703chr17:9281970ENST00000333896+1311563_2093-1292156ANK2
HgeneSPTBN1chr2:54753703chr17:9281970ENST00000356805+2361563_2093492365ANK2


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


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RelatedDrugs for SPTBN1_STX8


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneSPTBN1Q01082DB01373CalciumSpectrin beta chain, non-erythrocytic 1small moleculeapproved|nutraceutical

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RelatedDiseases for SPTBN1_STX8


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSPTBN1C0043094Weight Gain1CTD_human