UTHEALTH HOME    ABOUT SBMI    A-Z    WEBMAIL    INSIDE THE UNIVERSITY
FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Terms of Use

Center for Computational Systems Medicine level1
leaf

Fusion Gene Summary

leaf

Fusion Gene Sample Information

leaf

Fusion ORF Analysis

leaf

Fusion Amino Acid Sequences

leaf

Fusion Protein Functional Features

leaf

Fusion Protein-Protein Interaction

leaf

Related drugs with this fusion protein

leaf

Related disease with this fusion protein

Fusion Protein:SPTBN1-C2orf73

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: SPTBN1-C2orf73
FusionPDB ID: 86121
FusionGDB2.0 ID: 86121
HgeneTgene
Gene symbol

SPTBN1

C2orf73

Gene ID

6711

129852

Gene namespectrin beta, non-erythrocytic 1chromosome 2 open reading frame 73
SynonymsELF|HEL102|SPTB2|betaSpII-
Cytomap

2p16.2

2p16.2

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 uncharacterized protein C2orf73
Modification date2020032920200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST idsENST00000333896, ENST00000356805, 
ENST00000491538, ENST00000398634, 
ENST00000405749, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score24 X 20 X 9=43201 X 1 X 1=1
# samples 261
** MAII scorelog2(26/4320*10)=-4.05444778402238
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(1/1*10)=3.32192809488736
Context (manual curation of fusion genes in FusionPDB)

PubMed: SPTBN1 [Title/Abstract] AND C2orf73 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)SPTBN1(54864940)-C2orf73(54608983), # samples:1
Anticipated loss of major functional domain due to fusion event.SPTBN1-C2orf73 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
SPTBN1-C2orf73 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
SPTBN1-C2orf73 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
SPTBN1-C2orf73 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
* 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 buttonFusion gene breakpoints across SPTBN1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across C2orf73 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


Top

Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4STADTCGA-HU-A4GH-01ASPTBN1chr2

54864940

+C2orf73chr2

54608983

+


Top

Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000356805SPTBN1chr254864940+ENST00000405749C2orf73chr254608983+4427413926641501294
ENST00000333896SPTBN1chr254864940+ENST00000405749C2orf73chr254608983+4492420431342151300

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000356805ENST00000405749SPTBN1chr254864940+C2orf73chr254608983+0.0113044460.9886955
ENST00000333896ENST00000405749SPTBN1chr254864940+C2orf73chr254608983+0.0110842970.9889157

Top

Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>86121_86121_1_SPTBN1-C2orf73_SPTBN1_chr2_54864940_ENST00000333896_C2orf73_chr2_54608983_ENST00000405749_length(amino acids)=1300AA_BP=
MDGSGRGLERDFQGAVLRGVTPGIMELQRTSSISGPLSPAYTGQVPYNYNQLEGRFKQLQDEREAVQKKTFTKWVNSHLARVSCRITDLY
TDLRDGRMLIKLLEVLSGERLPKPTKGRMRIHCLENVDKALQFLKEQRVHLENMGSHDIVDGNHRLTLGLIWTIILRFQIQDISVETEDN
KEKKSAKDALLLWCQMKTAGYPNVNIHNFTTSWRDGMAFNALIHKHRPDLIDFDKLKKSNAHYNLQNAFNLAEQHLGLTKLLDPEDISVD
HPDEKSIITYVVTYYHYFSKMKALAVEGKRIGKVLDNAIETEKMIEKYESLASDLLEWIEQTIIILNNRKFANSLVGVQQQLQAFNTYRT
VEKPPKFTEKGNLEVLLFTIQSKMRANNQKVYMPREGKLISDINKAWERLEKAEHERELALRNELIRQEKLEQLARRFDRKAAMRETWLS
ENQRLVSQDNFGFDLPAVEAATKKHEAIETDIAAYEERVQAVVAVARELEAENYHDIKRITARKDNVIRLWEYLLELLRARRQRLEMNLG
LQKIFQEMLYIMDWMDEMKVLVLSQDYGKHLLGVEDLLQKHTLVEADIGIQAERVRGVNASAQKFATDGEGYKPCDPQVIRDRVAHMEFC
YQELCQLAAERRARLEESRRLWKFFWEMAEEEGWIREKEKILSSDDYGKDLTSVMRLLSKHRAFEDEMSGRSGHFEQAIKEGEDMIAEEH
FGSEKIRERIIYIREQWANLEQLSAIRKKRLEEASLLHQFQADADDIDAWMLDILKIVSSSDVGHDEYSTQSLVKKHKDVAEEIANYRPT
LDTLHEQASALPQEHAESPDVRGRLSGIEERYKEVAELTRLRKQALQDTLALYKMFSEADACELWIDEKEQWLNNMQIPEKLEDLEVIQH
RFESLEPEMNNQASRVAVVNQIARQLMHSGHPSEKEIKAQQDKLNTRWSQFRELVDRKKDALLSALSIQNYHLECNETKSWIREKTKVIE
STQDLGNDLAGVMALQRKLTGMERDLVAIEAKLSDLQKEAEKLESEHPDQAQAILSRLAEISDVWEEMKTTLKNREASLGEASKLQQFLR
DLDDFQSWLSRTQTAIASEDMPNTLTEAEKLLTQHENIKNEIDNYEEDYQKMRDMGEMVTQGQTDAQYMFLRQRLQALDTGWNELHKMWE
NRQNLLSQSHAYQQFLRDTKQAEAFLNNQEYVLAHTEMPTTLEGAEAAIKKQEDFMTTMDANEEKINAVVETGRRLVSDGNINSDRIQEK

--------------------------------------------------------------

>86121_86121_2_SPTBN1-C2orf73_SPTBN1_chr2_54864940_ENST00000356805_C2orf73_chr2_54608983_ENST00000405749_length(amino acids)=1294AA_BP=
MRQFKMTTTVATDYDNIEIQQQYSDVNNRWDVDDWDNENSSARLFERSRIKALADEREAVQKKTFTKWVNSHLARVSCRITDLYTDLRDG
RMLIKLLEVLSGERLPKPTKGRMRIHCLENVDKALQFLKEQRVHLENMGSHDIVDGNHRLTLGLIWTIILRFQIQDISVETEDNKEKKSA
KDALLLWCQMKTAGYPNVNIHNFTTSWRDGMAFNALIHKHRPDLIDFDKLKKSNAHYNLQNAFNLAEQHLGLTKLLDPEDISVDHPDEKS
IITYVVTYYHYFSKMKALAVEGKRIGKVLDNAIETEKMIEKYESLASDLLEWIEQTIIILNNRKFANSLVGVQQQLQAFNTYRTVEKPPK
FTEKGNLEVLLFTIQSKMRANNQKVYMPREGKLISDINKAWERLEKAEHERELALRNELIRQEKLEQLARRFDRKAAMRETWLSENQRLV
SQDNFGFDLPAVEAATKKHEAIETDIAAYEERVQAVVAVARELEAENYHDIKRITARKDNVIRLWEYLLELLRARRQRLEMNLGLQKIFQ
EMLYIMDWMDEMKVLVLSQDYGKHLLGVEDLLQKHTLVEADIGIQAERVRGVNASAQKFATDGEGYKPCDPQVIRDRVAHMEFCYQELCQ
LAAERRARLEESRRLWKFFWEMAEEEGWIREKEKILSSDDYGKDLTSVMRLLSKHRAFEDEMSGRSGHFEQAIKEGEDMIAEEHFGSEKI
RERIIYIREQWANLEQLSAIRKKRLEEASLLHQFQADADDIDAWMLDILKIVSSSDVGHDEYSTQSLVKKHKDVAEEIANYRPTLDTLHE
QASALPQEHAESPDVRGRLSGIEERYKEVAELTRLRKQALQDTLALYKMFSEADACELWIDEKEQWLNNMQIPEKLEDLEVIQHRFESLE
PEMNNQASRVAVVNQIARQLMHSGHPSEKEIKAQQDKLNTRWSQFRELVDRKKDALLSALSIQNYHLECNETKSWIREKTKVIESTQDLG
NDLAGVMALQRKLTGMERDLVAIEAKLSDLQKEAEKLESEHPDQAQAILSRLAEISDVWEEMKTTLKNREASLGEASKLQQFLRDLDDFQ
SWLSRTQTAIASEDMPNTLTEAEKLLTQHENIKNEIDNYEEDYQKMRDMGEMVTQGQTDAQYMFLRQRLQALDTGWNELHKMWENRQNLL
SQSHAYQQFLRDTKQAEAFLNNQEYVLAHTEMPTTLEGAEAAIKKQEDFMTTMDANEEKINAVVETGRRLVSDGNINSDRIQEKVDSIDD

--------------------------------------------------------------

Top

Fusion Protein Functional Features


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr2:54864940/chr2:54608983)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
..
FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneSPTBN1chr2:54864940chr2:54608983ENST00000333896+1731173_2781273.02156.0DomainCalponin-homology (CH) 2
HgeneSPTBN1chr2:54864940chr2:54608983ENST00000333896+173154_1581273.02156.0DomainCalponin-homology (CH) 1
HgeneSPTBN1chr2:54864940chr2:54608983ENST00000356805+1836173_2781286.02365.0DomainCalponin-homology (CH) 2
HgeneSPTBN1chr2:54864940chr2:54608983ENST00000356805+183654_1581286.02365.0DomainCalponin-homology (CH) 1
HgeneSPTBN1chr2:54864940chr2:54608983ENST00000333896+17312_2751273.02156.0RegionNote=Actin-binding
HgeneSPTBN1chr2:54864940chr2:54608983ENST00000356805+18362_2751286.02365.0RegionNote=Actin-binding
HgeneSPTBN1chr2:54864940chr2:54608983ENST00000333896+17311063_11661273.02156.0RepeatSpectrin 8
HgeneSPTBN1chr2:54864940chr2:54608983ENST00000333896+17311170_12581273.02156.0RepeatSpectrin 9
HgeneSPTBN1chr2:54864940chr2:54608983ENST00000333896+1731303_4111273.02156.0RepeatSpectrin 1
HgeneSPTBN1chr2:54864940chr2:54608983ENST00000333896+1731423_5251273.02156.0RepeatSpectrin 2
HgeneSPTBN1chr2:54864940chr2:54608983ENST00000333896+1731530_6361273.02156.0RepeatSpectrin 3
HgeneSPTBN1chr2:54864940chr2:54608983ENST00000333896+1731639_7421273.02156.0RepeatSpectrin 4
HgeneSPTBN1chr2:54864940chr2:54608983ENST00000333896+1731745_8471273.02156.0RepeatSpectrin 5
HgeneSPTBN1chr2:54864940chr2:54608983ENST00000333896+1731850_9521273.02156.0RepeatSpectrin 6
HgeneSPTBN1chr2:54864940chr2:54608983ENST00000333896+1731957_10601273.02156.0RepeatSpectrin 7
HgeneSPTBN1chr2:54864940chr2:54608983ENST00000356805+18361063_11661286.02365.0RepeatSpectrin 8
HgeneSPTBN1chr2:54864940chr2:54608983ENST00000356805+18361170_12581286.02365.0RepeatSpectrin 9
HgeneSPTBN1chr2:54864940chr2:54608983ENST00000356805+1836303_4111286.02365.0RepeatSpectrin 1
HgeneSPTBN1chr2:54864940chr2:54608983ENST00000356805+1836423_5251286.02365.0RepeatSpectrin 2
HgeneSPTBN1chr2:54864940chr2:54608983ENST00000356805+1836530_6361286.02365.0RepeatSpectrin 3
HgeneSPTBN1chr2:54864940chr2:54608983ENST00000356805+1836639_7421286.02365.0RepeatSpectrin 4
HgeneSPTBN1chr2:54864940chr2:54608983ENST00000356805+1836745_8471286.02365.0RepeatSpectrin 5
HgeneSPTBN1chr2:54864940chr2:54608983ENST00000356805+1836850_9521286.02365.0RepeatSpectrin 6
HgeneSPTBN1chr2:54864940chr2:54608983ENST00000356805+1836957_10601286.02365.0RepeatSpectrin 7

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneSPTBN1chr2:54864940chr2:54608983ENST00000333896+17312197_23071273.02156.0DomainPH
HgeneSPTBN1chr2:54864940chr2:54608983ENST00000356805+18362197_23071286.02365.0DomainPH
HgeneSPTBN1chr2:54864940chr2:54608983ENST00000333896+17311276_13761273.02156.0RepeatSpectrin 10
HgeneSPTBN1chr2:54864940chr2:54608983ENST00000333896+17311381_14821273.02156.0RepeatSpectrin 11
HgeneSPTBN1chr2:54864940chr2:54608983ENST00000333896+17311486_15901273.02156.0RepeatSpectrin 12
HgeneSPTBN1chr2:54864940chr2:54608983ENST00000333896+17311592_16961273.02156.0RepeatSpectrin 13
HgeneSPTBN1chr2:54864940chr2:54608983ENST00000333896+17311698_18011273.02156.0RepeatSpectrin 14
HgeneSPTBN1chr2:54864940chr2:54608983ENST00000333896+17311805_19071273.02156.0RepeatSpectrin 15
HgeneSPTBN1chr2:54864940chr2:54608983ENST00000333896+17311914_20141273.02156.0RepeatSpectrin 16
HgeneSPTBN1chr2:54864940chr2:54608983ENST00000333896+17312018_20971273.02156.0RepeatSpectrin 17
HgeneSPTBN1chr2:54864940chr2:54608983ENST00000356805+18361276_13761286.02365.0RepeatSpectrin 10
HgeneSPTBN1chr2:54864940chr2:54608983ENST00000356805+18361381_14821286.02365.0RepeatSpectrin 11
HgeneSPTBN1chr2:54864940chr2:54608983ENST00000356805+18361486_15901286.02365.0RepeatSpectrin 12
HgeneSPTBN1chr2:54864940chr2:54608983ENST00000356805+18361592_16961286.02365.0RepeatSpectrin 13
HgeneSPTBN1chr2:54864940chr2:54608983ENST00000356805+18361698_18011286.02365.0RepeatSpectrin 14
HgeneSPTBN1chr2:54864940chr2:54608983ENST00000356805+18361805_19071286.02365.0RepeatSpectrin 15
HgeneSPTBN1chr2:54864940chr2:54608983ENST00000356805+18361914_20141286.02365.0RepeatSpectrin 16
HgeneSPTBN1chr2:54864940chr2:54608983ENST00000356805+18362018_20971286.02365.0RepeatSpectrin 17


Top

Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
SPTBN1
C2orf73


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with
HgeneSPTBN1chr2:54864940chr2:54608983ENST00000333896+17311563_20931273.02156.0ANK2
HgeneSPTBN1chr2:54864940chr2:54608983ENST00000356805+18361563_20931286.02365.0ANK2


Top

Related Drugs to SPTBN1-C2orf73


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

Top

Related Diseases to SPTBN1-C2orf73


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

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