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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: 35174

FusionGeneSummary for SNRNP40_MAP2K5

check button Fusion gene summary
Fusion gene informationFusion gene name: SNRNP40_MAP2K5
Fusion gene ID: 35174
HgeneTgene
Gene symbol

SNRNP40

MAP2K5

Gene ID

9410

5607

Gene namesmall nuclear ribonucleoprotein U5 subunit 40mitogen-activated protein kinase kinase 5
Synonyms40K|HPRP8BP|PRP8BP|PRPF8BP|SPF38|WDR57HsT17454|MAPKK5|MEK5|PRKMK5
Cytomap

1p35.2

15q23

Type of geneprotein-codingprotein-coding
DescriptionU5 small nuclear ribonucleoprotein 40 kDa protein38 kDa-splicing factorPrp8-binding proteinU5 snRNP 40 kDa proteinU5 snRNP-specific 40 kDa protein (hPrp8-binding)U5-40KU5-40kD proteinWD repeat domain 57 (U5 snRNP specific)WD repeat-containing protdual specificity mitogen-activated protein kinase kinase 5MAP kinase kinase 5MAP kinase kinase MEK5bMAPK/ERK kinase 5MAPKK 5MEK 5
Modification date2018052320180523
UniProtAcc

Q96DI7

Q13163

Ensembl transtripts involved in fusion geneENST00000263694, ENST00000489853, 
ENST00000373720, ENST00000446633, 
ENST00000178640, ENST00000560591, 
ENST00000395476, ENST00000354498, 
ENST00000340972, 
Fusion gene scores* DoF score6 X 3 X 5=908 X 7 X 9=504
# samples 513
** MAII scorelog2(5/90*10)=-0.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(13/504*10)=-1.95491211047146
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SNRNP40 [Title/Abstract] AND MAP2K5 [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-A4GF-01ASNRNP40chr1

31762101

-MAP2K5chr15

68040569

+
* 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-frameENST00000263694ENST00000178640SNRNP40chr1

31762101

-MAP2K5chr15

68040569

+
5CDS-intronENST00000263694ENST00000560591SNRNP40chr1

31762101

-MAP2K5chr15

68040569

+
5CDS-intronENST00000263694ENST00000395476SNRNP40chr1

31762101

-MAP2K5chr15

68040569

+
5CDS-intronENST00000263694ENST00000354498SNRNP40chr1

31762101

-MAP2K5chr15

68040569

+
5CDS-intronENST00000263694ENST00000340972SNRNP40chr1

31762101

-MAP2K5chr15

68040569

+
intron-3CDSENST00000489853ENST00000178640SNRNP40chr1

31762101

-MAP2K5chr15

68040569

+
intron-intronENST00000489853ENST00000560591SNRNP40chr1

31762101

-MAP2K5chr15

68040569

+
intron-intronENST00000489853ENST00000395476SNRNP40chr1

31762101

-MAP2K5chr15

68040569

+
intron-intronENST00000489853ENST00000354498SNRNP40chr1

31762101

-MAP2K5chr15

68040569

+
intron-intronENST00000489853ENST00000340972SNRNP40chr1

31762101

-MAP2K5chr15

68040569

+
intron-3CDSENST00000373720ENST00000178640SNRNP40chr1

31762101

-MAP2K5chr15

68040569

+
intron-intronENST00000373720ENST00000560591SNRNP40chr1

31762101

-MAP2K5chr15

68040569

+
intron-intronENST00000373720ENST00000395476SNRNP40chr1

31762101

-MAP2K5chr15

68040569

+
intron-intronENST00000373720ENST00000354498SNRNP40chr1

31762101

-MAP2K5chr15

68040569

+
intron-intronENST00000373720ENST00000340972SNRNP40chr1

31762101

-MAP2K5chr15

68040569

+
Frame-shiftENST00000446633ENST00000178640SNRNP40chr1

31762101

-MAP2K5chr15

68040569

+
5CDS-intronENST00000446633ENST00000560591SNRNP40chr1

31762101

-MAP2K5chr15

68040569

+
5CDS-intronENST00000446633ENST00000395476SNRNP40chr1

31762101

-MAP2K5chr15

68040569

+
5CDS-intronENST00000446633ENST00000354498SNRNP40chr1

31762101

-MAP2K5chr15

68040569

+
5CDS-intronENST00000446633ENST00000340972SNRNP40chr1

31762101

-MAP2K5chr15

68040569

+

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FusionProtFeatures for SNRNP40_MAP2K5


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SNRNP40

Q96DI7

MAP2K5

Q13163

Component of the U5 small nuclear ribonucleoprotein(snRNP) complex. The U5 snRNP is part of the spliceosome, amultiprotein complex that catalyzes the removal of introns frompre-messenger RNAs. {ECO:0000269|PubMed:9774689}. Acts as a scaffold for the formation of a ternaryMAP3K2/MAP3K3-MAP3K5-MAPK7 signaling complex. Activation of thispathway appears to play a critical role in protecting cells fromstress-induced apoptosis, neuronal survival and cardiacdevelopment and angiogenesis. {ECO:0000269|PubMed:7759517,ECO:0000269|PubMed:9384584}.

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
HgeneSNRNP40chr1:31762101chr15:68040569ENST00000263694-410107_146177358RepeatNote=WD 2
HgeneSNRNP40chr1:31762101chr15:68040569ENST00000263694-41064_103177358RepeatNote=WD 1

- In-frame and not-retained protein feature among the 13 regional features.
>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneSNRNP40chr1:31762101chr15:68040569ENST00000263694-410149_189177358RepeatNote=WD 3
HgeneSNRNP40chr1:31762101chr15:68040569ENST00000263694-410191_230177358RepeatNote=WD 4
HgeneSNRNP40chr1:31762101chr15:68040569ENST00000263694-410233_272177358RepeatNote=WD 5
HgeneSNRNP40chr1:31762101chr15:68040569ENST00000263694-410283_322177358RepeatNote=WD 6
HgeneSNRNP40chr1:31762101chr15:68040569ENST00000263694-410325_357177358RepeatNote=WD 7
TgeneMAP2K5chr1:31762101chr15:68040569ENST00000178640+1622166_409358449DomainProtein kinase
TgeneMAP2K5chr1:31762101chr15:68040569ENST00000178640+162218_109358449DomainPB1
TgeneMAP2K5chr1:31762101chr15:68040569ENST00000354498+1622166_409322413DomainProtein kinase
TgeneMAP2K5chr1:31762101chr15:68040569ENST00000354498+162218_109322413DomainPB1
TgeneMAP2K5chr1:31762101chr15:68040569ENST00000395476+1521166_409348439DomainProtein kinase
TgeneMAP2K5chr1:31762101chr15:68040569ENST00000395476+152118_109348439DomainPB1
TgeneMAP2K5chr1:31762101chr15:68040569ENST00000178640+1622172_180358449Nucleotide bindingATP
TgeneMAP2K5chr1:31762101chr15:68040569ENST00000354498+1622172_180322413Nucleotide bindingATP
TgeneMAP2K5chr1:31762101chr15:68040569ENST00000395476+1521172_180348439Nucleotide bindingATP


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FusionGeneSequence for SNRNP40_MAP2K5


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_SNRNP40_ENST00000263694_chr1_31762101_-_MAP2K5_ENST00000178640_chr15_68040569_+_268aa
MIEQQKRKGPELPLVPVKRQRHELLLGAGSGPGAGQQQATPGALLQAGPPRCSSLQAPIMLLSGHEGEVYCCKFHPNGSTLASAGFDRLI
LLWNVYGDCDNYATLKGHSGAVMELHYNTDGSMLFSASTDKTVAVWDSETGERVKRLKGHTSFVNSCYPARRGPQLVCTGSDDGTVKIQK


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_SNRNP40_ENST00000263694_chr1_31762101_-_MAP2K5_ENST00000178640_chr15_68040569_+_804nt
ATGATAGAACAGCAGAAGCGTAAGGGCCCAGAGTTGCCGCTGGTTCCAGTCAAGCGGCAGCGGCATGAGTTGCTGTTGGGAGCGGGGTCT
GGCCCAGGAGCCGGGCAGCAGCAGGCGACGCCGGGAGCCTTGCTGCAAGCGGGACCTCCAAGATGTTCCTCCCTTCAAGCCCCAATCATG
CTGCTCTCTGGACATGAAGGGGAAGTCTACTGCTGCAAGTTCCACCCCAACGGATCCACCTTAGCATCTGCAGGATTTGACCGACTGATA
TTACTGTGGAATGTCTATGGTGACTGTGATAACTATGCCACACTGAAGGGACACAGTGGAGCAGTGATGGAATTGCATTACAACACAGAT
GGCAGTATGCTTTTCTCAGCATCCACAGATAAAACCGTGGCTGTGTGGGATAGTGAAACAGGTGAGAGGGTTAAAAGGCTAAAGGGACAT
ACTTCCTTTGTGAATTCCTGTTATCCAGCCAGGAGAGGCCCTCAGCTTGTCTGCACTGGCAGTGACGATGGCACAGTTAAGATTCAGAAA
AACCAGGGATCTTTAATGCCTCTCCAGCTTCTGCAGTGCATTGTTGATGAGGATTCGCCCGTCCTTCCAGTTGGAGAGTTCTCGGAGCCA
TTTGTACATTTCATCACTCAGTGTATGCGAAAACAGCCAAAAGAAAGGCCAGCACCTGAAGAATTGATGGGCCACCCGTTCATCGTGCAG


* Fusion transcript sequences (Full-length transcript).
>In-frame_SNRNP40_ENST00000263694_chr1_31762101_-_MAP2K5_ENST00000178640_chr15_68040569_+_1196nt
GAAGAGACCGGTTGCCGCCATGATAGAACAGCAGAAGCGTAAGGGCCCAGAGTTGCCGCTGGTTCCAGTCAAGCGGCAGCGGCATGAGTT
GCTGTTGGGAGCGGGGTCTGGCCCAGGAGCCGGGCAGCAGCAGGCGACGCCGGGAGCCTTGCTGCAAGCGGGACCTCCAAGATGTTCCTC
CCTTCAAGCCCCAATCATGCTGCTCTCTGGACATGAAGGGGAAGTCTACTGCTGCAAGTTCCACCCCAACGGATCCACCTTAGCATCTGC
AGGATTTGACCGACTGATATTACTGTGGAATGTCTATGGTGACTGTGATAACTATGCCACACTGAAGGGACACAGTGGAGCAGTGATGGA
ATTGCATTACAACACAGATGGCAGTATGCTTTTCTCAGCATCCACAGATAAAACCGTGGCTGTGTGGGATAGTGAAACAGGTGAGAGGGT
TAAAAGGCTAAAGGGACATACTTCCTTTGTGAATTCCTGTTATCCAGCCAGGAGAGGCCCTCAGCTTGTCTGCACTGGCAGTGACGATGG
CACAGTTAAGATTCAGAAAAACCAGGGATCTTTAATGCCTCTCCAGCTTCTGCAGTGCATTGTTGATGAGGATTCGCCCGTCCTTCCAGT
TGGAGAGTTCTCGGAGCCATTTGTACATTTCATCACTCAGTGTATGCGAAAACAGCCAAAAGAAAGGCCAGCACCTGAAGAATTGATGGG
CCACCCGTTCATCGTGCAGTTCAATGATGGAAATGCCGCCGTGGTGTCCATGTGGGTGTGCCGGGCGCTGGAGGAGAGGCGGAGCCAGCA
GGGGCCCCCGTGAGGCTGCCGCAGGGCACTGAAAGCCCAGGACCAGTAACCAAGGAGAACAACCCACCCGTCGCCCTTCTCCGTATGCTG
CCTGCGCCAGAAGAGCTTTGCTGGGCCCTGGCTTCCCTGCCCTCGCCTTCACCTCTGTCAGCAGGTGGCCTTGCCTGGGGAGCCCCATGT
GTGGCCCACCCCACCAGGCCATCCCCATACCTTCTGGTTTGAAGGCGCTGACACTGGCAGAGAGGTAAAGGGTGGGGCATTGAGAATGGA
GGCTCCCAGGGTCCCTGCCCACTTCTGTTTTCCTAATGTTTTTCTCTATAAAGGGTCAGGCCCGTCAGCATCACTGATGGGAATAAAAGT


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FusionGenePPI for SNRNP40_MAP2K5


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
SNRNP40PRPF8, SNRNP200, EFTUD2, CD2BP2, PRPF6, SNRPB2, PFDN2, MAGEA6, SF3B1, DDR1, USP39, PRPF4, CUL4A, CUL4B, WDR5, SRRM1, PML, RARA, ELAVL1, DHX16, RNU4ATAC, RNU6ATAC, APP, SNRPE, RALY, TBL1X, MDC1, EIF4A3, MAGOH, PRPF4B, RPA3, RPA2, RPA1, MOV10, NXF1, CUL7, OBSL1, SUZ12, DDX23, TSSC4, RSRC1, PRPF3, TFIP11, PAXBP1, PRPF31, SART1, ECD, SNRPD2, CCDC12, DHX38, SNRNP27, ZNHIT2, TXNL4A, AQR, SNRPD1, ISY1, RBM42, CHD3, CRNKL1, POLR3C, SREK1, XPO1, YWHAZ, USP37, SNW1, CDC5L, SNRPF, PPIE, AAR2, LMNAMAP2K5MAP3K3, MAP3K2, PRKCZ, MAPK7, MAP2K5, YWHAZ, CDC42BPB, ENO1, SQSTM1, ASRGL1, STAMBP, PRKCI, PARD6A, HSP90AA1, GCH1, XRCC6, ESRRA, RPL28, NXF1, LNX2, TRAF7, C10orf88, CDC37


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
TgeneMAP2K5chr1:31762101chr15:68040569ENST00000178640+162264_68358449MAP3K2/MAP3K3
TgeneMAP2K5chr1:31762101chr15:68040569ENST00000354498+162264_68322413MAP3K2/MAP3K3
TgeneMAP2K5chr1:31762101chr15:68040569ENST00000395476+152164_68348439MAP3K2/MAP3K3
TgeneMAP2K5chr1:31762101chr15:68040569ENST00000178640+1622117_131358449MAPK7
TgeneMAP2K5chr1:31762101chr15:68040569ENST00000178640+162218_25358449MAPK7
TgeneMAP2K5chr1:31762101chr15:68040569ENST00000354498+1622117_131322413MAPK7
TgeneMAP2K5chr1:31762101chr15:68040569ENST00000354498+162218_25322413MAPK7
TgeneMAP2K5chr1:31762101chr15:68040569ENST00000395476+1521117_131348439MAPK7
TgeneMAP2K5chr1:31762101chr15:68040569ENST00000395476+152118_25348439MAPK7


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


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RelatedDrugs for SNRNP40_MAP2K5


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 SNRNP40_MAP2K5


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneMAP2K5C0005910Body Weight1CTD_human
TgeneMAP2K5C0011581Depressive disorder1PSYGENET
TgeneMAP2K5C0236733Amphetamine-Related Disorders1CTD_human