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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: 17606

FusionGeneSummary for INTS8_ESRP1

check button Fusion gene summary
Fusion gene informationFusion gene name: INTS8_ESRP1
Fusion gene ID: 17606
HgeneTgene
Gene symbol

INTS8

ESRP1

Gene ID

55656

54845

Gene nameintegrator complex subunit 8epithelial splicing regulatory protein 1
SynonymsC8orf52|INT8RBM35A|RMB35A
Cytomap

8q22.1

8q22.1

Type of geneprotein-codingprotein-coding
Descriptionintegrator complex subunit 8protein kaonashi-1epithelial splicing regulatory protein 1RNA-binding motif protein 35ARNA-binding protein 35A
Modification date2018052220180519
UniProtAcc

Q75QN2

Q6NXG1

Ensembl transtripts involved in fusion geneENST00000523731, ENST00000447247, 
ENST00000520845, 
ENST00000423620, 
ENST00000433389, ENST00000358397, 
ENST00000454170, ENST00000523347, 
Fusion gene scores* DoF score4 X 4 X 3=487 X 6 X 4=168
# samples 57
** MAII scorelog2(5/48*10)=0.0588936890535686
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(7/168*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: INTS8 [Title/Abstract] AND ESRP1 [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
HgeneINTS8

GO:0016180

snRNA processing

16239144

TgeneESRP1

GO:0043484

regulation of RNA splicing

19285943


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-EE-A181-06AINTS8chr8

95841254

+ESRP1chr8

95718153

+
* 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-frameENST00000523731ENST00000423620INTS8chr8

95841254

+ESRP1chr8

95718153

+
5CDS-3UTRENST00000523731ENST00000433389INTS8chr8

95841254

+ESRP1chr8

95718153

+
5CDS-3UTRENST00000523731ENST00000358397INTS8chr8

95841254

+ESRP1chr8

95718153

+
5CDS-3UTRENST00000523731ENST00000454170INTS8chr8

95841254

+ESRP1chr8

95718153

+
5CDS-3UTRENST00000523731ENST00000523347INTS8chr8

95841254

+ESRP1chr8

95718153

+
In-frameENST00000447247ENST00000423620INTS8chr8

95841254

+ESRP1chr8

95718153

+
5CDS-3UTRENST00000447247ENST00000433389INTS8chr8

95841254

+ESRP1chr8

95718153

+
5CDS-3UTRENST00000447247ENST00000358397INTS8chr8

95841254

+ESRP1chr8

95718153

+
5CDS-3UTRENST00000447247ENST00000454170INTS8chr8

95841254

+ESRP1chr8

95718153

+
5CDS-3UTRENST00000447247ENST00000523347INTS8chr8

95841254

+ESRP1chr8

95718153

+
intron-3CDSENST00000520845ENST00000423620INTS8chr8

95841254

+ESRP1chr8

95718153

+
intron-3UTRENST00000520845ENST00000433389INTS8chr8

95841254

+ESRP1chr8

95718153

+
intron-3UTRENST00000520845ENST00000358397INTS8chr8

95841254

+ESRP1chr8

95718153

+
intron-3UTRENST00000520845ENST00000454170INTS8chr8

95841254

+ESRP1chr8

95718153

+
intron-3UTRENST00000520845ENST00000523347INTS8chr8

95841254

+ESRP1chr8

95718153

+

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FusionProtFeatures for INTS8_ESRP1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
INTS8

Q75QN2

ESRP1

Q6NXG1

Component of the Integrator complex, a complex involvedin the small nuclear RNAs (snRNA) U1 and U2 transcription and intheir 3'-box-dependent processing. The Integrator complex isassociated with the C-terminal domain (CTD) of RNA polymerase IIlargest subunit (POLR2A) and is recruited to the U1 and U2 snRNAsgenes. mRNA splicing factor that regulates the formation ofepithelial cell-specific isoforms. Specifically regulates theexpression of FGFR2-IIIb, an epithelial cell-specific isoform ofFGFR2. Also regulates the splicing of CD44, CTNND1, ENAH, 3transcripts that undergo changes in splicing during theepithelial-to-mesenchymal transition (EMT). Acts by directlybinding specific sequences in mRNAs. Binds the GU-rich sequencemotifs in the ISE/ISS-3, a cis-element regulatory region presentin the mRNA of FGFR2. {ECO:0000269|PubMed:19285943}.

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
HgeneINTS8chr8:95841254chr8:95718153ENST00000447247+526250_288190979RepeatNote=TPR 1
HgeneINTS8chr8:95841254chr8:95718153ENST00000447247+526320_356190979RepeatNote=TPR 2
HgeneINTS8chr8:95841254chr8:95718153ENST00000447247+526570_603190979RepeatNote=TPR 3
HgeneINTS8chr8:95841254chr8:95718153ENST00000447247+526833_866190979RepeatNote=TPR 4
HgeneINTS8chr8:95841254chr8:95718153ENST00000523731+527250_288190996RepeatNote=TPR 1
HgeneINTS8chr8:95841254chr8:95718153ENST00000523731+527320_356190996RepeatNote=TPR 2
HgeneINTS8chr8:95841254chr8:95718153ENST00000523731+527570_603190996RepeatNote=TPR 3
HgeneINTS8chr8:95841254chr8:95718153ENST00000523731+527833_866190996RepeatNote=TPR 4
TgeneESRP1chr8:95841254chr8:95718153ENST00000358397+1416225_3026891099DomainRRM 1
TgeneESRP1chr8:95841254chr8:95718153ENST00000358397+1416326_4066891099DomainRRM 2
TgeneESRP1chr8:95841254chr8:95718153ENST00000358397+1416445_5256891099DomainRRM 3
TgeneESRP1chr8:95841254chr8:95718153ENST00000423620+1315225_302653660DomainRRM 1
TgeneESRP1chr8:95841254chr8:95718153ENST00000423620+1315326_406653660DomainRRM 2
TgeneESRP1chr8:95841254chr8:95718153ENST00000423620+1315445_525653660DomainRRM 3
TgeneESRP1chr8:95841254chr8:95718153ENST00000433389+1416225_3026931074DomainRRM 1
TgeneESRP1chr8:95841254chr8:95718153ENST00000433389+1416326_4066931074DomainRRM 2
TgeneESRP1chr8:95841254chr8:95718153ENST00000433389+1416445_5256931074DomainRRM 3
TgeneESRP1chr8:95841254chr8:95718153ENST00000454170+1214225_302606609DomainRRM 1
TgeneESRP1chr8:95841254chr8:95718153ENST00000454170+1214326_406606609DomainRRM 2
TgeneESRP1chr8:95841254chr8:95718153ENST00000454170+1214445_525606609DomainRRM 3


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FusionGeneSequence for INTS8_ESRP1


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_INTS8_ENST00000523731_chr8_95841254_+_ESRP1_ENST00000423620_chr8_95718153_+_197aa
MSAEAADREAATSSRPCTPPQTCWFEFLLEESLLEKHLRKPCPDPAPVQLIVQFLEQASKPSVNEQNQVQPPPDNKRNRILKLLALKVAA
HLKWDLDILEKSLSVPVLNMLLNELLCISKVPPGTKHVDMDLATLPPTTAMAVLLYNRWAIRTIVQSSFPVKQAKPGPPQLSVMNQMQQE

>In-frame_INTS8_ENST00000447247_chr8_95841254_+_ESRP1_ENST00000423620_chr8_95718153_+_197aa
MSAEAADREAATSSRPCTPPQTCWFEFLLEESLLEKHLRKPCPDPAPVQLIVQFLEQASKPSVNEQNQVQPPPDNKRNRILKLLALKVAA
HLKWDLDILEKSLSVPVLNMLLNELLCISKVPPGTKHVDMDLATLPPTTAMAVLLYNRWAIRTIVQSSFPVKQAKPGPPQLSVMNQMQQE


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_INTS8_ENST00000523731_chr8_95841254_+_ESRP1_ENST00000423620_chr8_95718153_+_591nt
ATGAGCGCGGAGGCGGCGGACCGGGAGGCGGCCACCTCCAGCCGGCCCTGCACCCCGCCGCAGACCTGCTGGTTTGAGTTTCTGCTGGAG
GAGTCACTGTTGGAGAAACATCTGCGCAAGCCCTGCCCGGATCCTGCACCAGTTCAACTTATAGTTCAGTTTTTGGAACAGGCTTCCAAA
CCTTCAGTTAATGAACAAAACCAAGTTCAACCTCCGCCTGATAACAAGAGAAATCGTATTTTAAAACTACTTGCTCTTAAAGTTGCTGCA
CATTTGAAGTGGGACTTAGACATATTAGAGAAAAGTTTGTCTGTTCCAGTATTGAATATGCTACTAAATGAACTACTCTGCATCAGTAAA
GTTCCTCCTGGGACAAAGCATGTAGACATGGATCTGGCCACTTTACCTCCGACCACTGCCATGGCTGTACTTCTCTATAATAGATGGGCA
ATTAGGACAATTGTTCAAAGTAGTTTTCCAGTCAAACAGGCAAAACCCGGACCCCCTCAGTTAAGTGTTATGAATCAAATGCAACAGGAA

>In-frame_INTS8_ENST00000447247_chr8_95841254_+_ESRP1_ENST00000423620_chr8_95718153_+_591nt
ATGAGCGCGGAGGCGGCGGACCGGGAGGCGGCCACCTCCAGCCGGCCCTGCACCCCGCCGCAGACCTGCTGGTTTGAGTTTCTGCTGGAG
GAGTCACTGTTGGAGAAACATCTGCGCAAGCCCTGCCCGGATCCTGCACCAGTTCAACTTATAGTTCAGTTTTTGGAACAGGCTTCCAAA
CCTTCAGTTAATGAACAAAACCAAGTTCAACCTCCGCCTGATAACAAGAGAAATCGTATTTTAAAACTACTTGCTCTTAAAGTTGCTGCA
CATTTGAAGTGGGACTTAGACATATTAGAGAAAAGTTTGTCTGTTCCAGTATTGAATATGCTACTAAATGAACTACTCTGCATCAGTAAA
GTTCCTCCTGGGACAAAGCATGTAGACATGGATCTGGCCACTTTACCTCCGACCACTGCCATGGCTGTACTTCTCTATAATAGATGGGCA
ATTAGGACAATTGTTCAAAGTAGTTTTCCAGTCAAACAGGCAAAACCCGGACCCCCTCAGTTAAGTGTTATGAATCAAATGCAACAGGAA


* Fusion transcript sequences (Full-length transcript).
>In-frame_INTS8_ENST00000523731_chr8_95841254_+_ESRP1_ENST00000423620_chr8_95718153_+_2245nt
TGTGTGAGTTTCCGGGACGTTCGGAGGGTGGCCTCTCTCCCACCGGGTTCCGCATACCCCAGGCACCGGCCCGCATCCAAGTGTCAGGTT
GGAGCCGGGAAGCGGCCCTGGTGGTAGCGGCGGCGGGGGCAGGATGAGCGCGGAGGCGGCGGACCGGGAGGCGGCCACCTCCAGCCGGCC
CTGCACCCCGCCGCAGACCTGCTGGTTTGAGTTTCTGCTGGAGGAGTCACTGTTGGAGAAACATCTGCGCAAGCCCTGCCCGGATCCTGC
ACCAGTTCAACTTATAGTTCAGTTTTTGGAACAGGCTTCCAAACCTTCAGTTAATGAACAAAACCAAGTTCAACCTCCGCCTGATAACAA
GAGAAATCGTATTTTAAAACTACTTGCTCTTAAAGTTGCTGCACATTTGAAGTGGGACTTAGACATATTAGAGAAAAGTTTGTCTGTTCC
AGTATTGAATATGCTACTAAATGAACTACTCTGCATCAGTAAAGTTCCTCCTGGGACAAAGCATGTAGACATGGATCTGGCCACTTTACC
TCCGACCACTGCCATGGCTGTACTTCTCTATAATAGATGGGCAATTAGGACAATTGTTCAAAGTAGTTTTCCAGTCAAACAGGCAAAACC
CGGACCCCCTCAGTTAAGTGTTATGAATCAAATGCAACAGGAAAAAGAGCTAACAGAAAACATTTTGAAAGTGTGTTTGAAAGATGTATG
GTGATCTTGAAACCTCCAGACACAAGAAAACTTCTAGCAAATTCAGGGGAAGTTTGTCTACACTCAGGCTGCAGTATTTTCAGCAAACTT
GATTGGACAAACGGGCCTGTGCCTTATCTTTTGGTGGAGTGAAAAAATTTGAGCTAGTGAAGCCAAATCGTAACTTACAGCAAGCAGCAT
GCAGCATACCTGGCTCTTTGCTGATTGCAAATAGGCATTTAAAATGTGAATTTGGAATCAGATGTCTCCATTACTTCCAGTTAAAGTGGC
ATCATAGGTGTTTCCTAAGTTTTAAGTCTTGGATAAAAACTCCACCAGTGTCTACCATCTCCACCATGAACTCTGTTAAGGAAGCTTCAT
TTTTGTATATTCCCGCTCTTTTCTCTTCATTTCCCTGTCTTCTGCATAATCATGCCTTCTTGCTAAGTAATTCAAGCATAAGATCTTGGA
ATAATAAAATCACAATCTTAGGAGAAAGAATAAAATTGTTATTTTCCCAGTCTCTTGGCCATGATGATATCTTATGATTAAAAACAAATT
AAATTTTAAAACACCTGAAGATAAATTAGAAGAAATTGTGCACCCTCCACAAAACATACAAAGTTTAAAAGTTTGGATCTTTTTCTCAGC
AGGTATCAGTTGTAAATAATGAATTAGGGGCCAAAATGCAAAACGAAAAATGAAGCAGCTACATGTAGTTAGTAATTTCTAGTTTGAACT
GTAATTGAATATTGTGGCTTCATATGTATTATTTTATATTGTACTTTTTTCATTATTGATGGTTTGGACTTTAATAAGAGAAATTCCATA
GTTTTTAATATCCCAGAAGTGAGACAATTTGAACAGTGTATTCTAGAAAACAATACACTAACTGAACAGAAGTGAATGCTTATATATATT
ATGATAGCCTTAAACCTTTTTCCTCTAATGCCTTAACTGTCAAATAATTATAACCTTTTAAAGCATAGGACTATAGTCAGCATGCTAGAC
TGAGAGGTAAACACTGATGCAATTAGAACAGGTACTGATGCTGTCAGTGTTTAACACTATGTTTAGCTGTGTTTATGCTATAAAAGTGCA
ATATTAGACACTAGCTAGTACTGCTGCCTCATGTAACTCCAAAGAAAACAGGATTTCATTAAGTGCATTGAATGTGGATATTTCTCTAAG
TTACTCATATTGTCCTTTGCTTGAATGCAATGCCGTGCAGATTTATGAGGCTGCTATTTTTATTTTCTGTGCATTACTTTAACACCTTAA
AGGGAGAAGCAAACATTTCCTTCTTCAGCTGACTGGCAATGGCCCTTTAACTGCAATAGGAAGAAAAAAAAAAAGGTTTGTGTGAAAATT
GGTGATAACTGGCACTTAAGATCGAAAAGAAATTTCTGTATACTTGATGCCTTAAGATGCCCAAAGCTGCCCAAAGCTCTGAAAGACTTT

>In-frame_INTS8_ENST00000447247_chr8_95841254_+_ESRP1_ENST00000423620_chr8_95718153_+_2238nt
GTTTCCGGGACGTTCGGAGGGTGGCCTCTCTCCCACCGGGTTCCGCATACCCCAGGCACCGGCCCGCATCCAAGTGTCAGGTTGGAGCCG
GGAAGCGGCCCTGGTGGTAGCGGCGGCGGGGGCAGGATGAGCGCGGAGGCGGCGGACCGGGAGGCGGCCACCTCCAGCCGGCCCTGCACC
CCGCCGCAGACCTGCTGGTTTGAGTTTCTGCTGGAGGAGTCACTGTTGGAGAAACATCTGCGCAAGCCCTGCCCGGATCCTGCACCAGTT
CAACTTATAGTTCAGTTTTTGGAACAGGCTTCCAAACCTTCAGTTAATGAACAAAACCAAGTTCAACCTCCGCCTGATAACAAGAGAAAT
CGTATTTTAAAACTACTTGCTCTTAAAGTTGCTGCACATTTGAAGTGGGACTTAGACATATTAGAGAAAAGTTTGTCTGTTCCAGTATTG
AATATGCTACTAAATGAACTACTCTGCATCAGTAAAGTTCCTCCTGGGACAAAGCATGTAGACATGGATCTGGCCACTTTACCTCCGACC
ACTGCCATGGCTGTACTTCTCTATAATAGATGGGCAATTAGGACAATTGTTCAAAGTAGTTTTCCAGTCAAACAGGCAAAACCCGGACCC
CCTCAGTTAAGTGTTATGAATCAAATGCAACAGGAAAAAGAGCTAACAGAAAACATTTTGAAAGTGTGTTTGAAAGATGTATGGTGATCT
TGAAACCTCCAGACACAAGAAAACTTCTAGCAAATTCAGGGGAAGTTTGTCTACACTCAGGCTGCAGTATTTTCAGCAAACTTGATTGGA
CAAACGGGCCTGTGCCTTATCTTTTGGTGGAGTGAAAAAATTTGAGCTAGTGAAGCCAAATCGTAACTTACAGCAAGCAGCATGCAGCAT
ACCTGGCTCTTTGCTGATTGCAAATAGGCATTTAAAATGTGAATTTGGAATCAGATGTCTCCATTACTTCCAGTTAAAGTGGCATCATAG
GTGTTTCCTAAGTTTTAAGTCTTGGATAAAAACTCCACCAGTGTCTACCATCTCCACCATGAACTCTGTTAAGGAAGCTTCATTTTTGTA
TATTCCCGCTCTTTTCTCTTCATTTCCCTGTCTTCTGCATAATCATGCCTTCTTGCTAAGTAATTCAAGCATAAGATCTTGGAATAATAA
AATCACAATCTTAGGAGAAAGAATAAAATTGTTATTTTCCCAGTCTCTTGGCCATGATGATATCTTATGATTAAAAACAAATTAAATTTT
AAAACACCTGAAGATAAATTAGAAGAAATTGTGCACCCTCCACAAAACATACAAAGTTTAAAAGTTTGGATCTTTTTCTCAGCAGGTATC
AGTTGTAAATAATGAATTAGGGGCCAAAATGCAAAACGAAAAATGAAGCAGCTACATGTAGTTAGTAATTTCTAGTTTGAACTGTAATTG
AATATTGTGGCTTCATATGTATTATTTTATATTGTACTTTTTTCATTATTGATGGTTTGGACTTTAATAAGAGAAATTCCATAGTTTTTA
ATATCCCAGAAGTGAGACAATTTGAACAGTGTATTCTAGAAAACAATACACTAACTGAACAGAAGTGAATGCTTATATATATTATGATAG
CCTTAAACCTTTTTCCTCTAATGCCTTAACTGTCAAATAATTATAACCTTTTAAAGCATAGGACTATAGTCAGCATGCTAGACTGAGAGG
TAAACACTGATGCAATTAGAACAGGTACTGATGCTGTCAGTGTTTAACACTATGTTTAGCTGTGTTTATGCTATAAAAGTGCAATATTAG
ACACTAGCTAGTACTGCTGCCTCATGTAACTCCAAAGAAAACAGGATTTCATTAAGTGCATTGAATGTGGATATTTCTCTAAGTTACTCA
TATTGTCCTTTGCTTGAATGCAATGCCGTGCAGATTTATGAGGCTGCTATTTTTATTTTCTGTGCATTACTTTAACACCTTAAAGGGAGA
AGCAAACATTTCCTTCTTCAGCTGACTGGCAATGGCCCTTTAACTGCAATAGGAAGAAAAAAAAAAAGGTTTGTGTGAAAATTGGTGATA
ACTGGCACTTAAGATCGAAAAGAAATTTCTGTATACTTGATGCCTTAAGATGCCCAAAGCTGCCCAAAGCTCTGAAAGACTTTAAGATAG


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FusionGenePPI for INTS8_ESRP1


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
INTS8INTS1, INTS3, INTS5, INTS6, SHFM1, INTS10, CTDP1, INTS2, INTS7, C7orf26, CDC5L, LAMP3, C1orf85, VCAM1ESRP1ATXN1, RNF2, BMI1, RNF111, RGPD8, RGPD5, RBPMS, RGPD3, RBPMS2, ATXN2, THUMPD3, ZNF703, HELZ, ELAVL2, GPATCH8


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 INTS8_ESRP1


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 INTS8_ESRP1


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