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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: 20773

FusionGeneSummary for MANF_SETD2

check button Fusion gene summary
Fusion gene informationFusion gene name: MANF_SETD2
Fusion gene ID: 20773
HgeneTgene
Gene symbol

MANF

SETD2

Gene ID

7873

29072

Gene namemesencephalic astrocyte derived neurotrophic factorSET domain containing 2
SynonymsARMET|ARPHBP231|HIF-1|HIP-1|HSPC069|HYPB|KMT3A|LLS|SET2|p231HBP
Cytomap

3p21.2

3p21.31

Type of geneprotein-codingprotein-coding
Descriptionmesencephalic astrocyte-derived neurotrophic factorarginine-rich, mutated in early stage tumorshistone-lysine N-methyltransferase SETD2huntingtin interacting protein 1huntingtin yeast partner Bhuntingtin-interacting protein Blysine N-methyltransferase 3Aprotein-lysine N-methyltransferase SETD2
Modification date2018052320180519
UniProtAcc

P55145

Q9BYW2

Ensembl transtripts involved in fusion geneENST00000528157, ENST00000470900, 
ENST00000409792, ENST00000492397, 
Fusion gene scores* DoF score1 X 1 X 1=16 X 6 X 6=216
# samples 17
** MAII scorelog2(1/1*10)=3.32192809488736log2(7/216*10)=-1.6256044852185
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MANF [Title/Abstract] AND SETD2 [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
TgeneSETD2

GO:0010569

regulation of double-strand break repair via homologous recombination

24843002

TgeneSETD2

GO:0018023

peptidyl-lysine trimethylation

27518565

TgeneSETD2

GO:0018026

peptidyl-lysine monomethylation

28753426

TgeneSETD2

GO:0032465

regulation of cytokinesis

27518565

TgeneSETD2

GO:0032727

positive regulation of interferon-alpha production

28753426

TgeneSETD2

GO:0034340

response to type I interferon

28753426

TgeneSETD2

GO:0051607

defense response to virus

28753426

TgeneSETD2

GO:0097198

histone H3-K36 trimethylation

23043551|24843002|26002201|27474439|28753426

TgeneSETD2

GO:0097676

histone H3-K36 dimethylation

26002201

TgeneSETD2

GO:1902850

microtubule cytoskeleton organization involved in mitosis

27518565

TgeneSETD2

GO:1905634

regulation of protein localization to chromatin

24843002


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
TCGARVBRCATCGA-A2-A3KC-01AMANFchr3

51423766

+SETD2chr3

47108608

-
* 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-frameENST00000528157ENST00000409792MANFchr3

51423766

+SETD2chr3

47108608

-
5CDS-5UTRENST00000528157ENST00000492397MANFchr3

51423766

+SETD2chr3

47108608

-
3UTR-3CDSENST00000470900ENST00000409792MANFchr3

51423766

+SETD2chr3

47108608

-
3UTR-5UTRENST00000470900ENST00000492397MANFchr3

51423766

+SETD2chr3

47108608

-

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FusionProtFeatures for MANF_SETD2


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

P55145

SETD2

Q9BYW2

Selectively promotes the survival of dopaminergicneurons of the ventral mid-brain (PubMed:12794311). ModulatesGABAergic transmission to the dopaminergic neurons of thesubstantia nigra (By similarity). Enhances spontaneous, as well asevoked, GABAergic inhibitory postsynaptic currents in dopaminergicneurons (By similarity). Inhibits cell proliferation andendoplasmic reticulum (ER) stress-induced cell death(PubMed:18561914, PubMed:22637475, PubMed:29497057). Retained inthe ER/sarcoplasmic reticulum (SR) through association with theendoplasmic reticulum chaperone protein HSPA5 under normalconditions (PubMed:22637475). Up-regulated and secreted by theER/SR in response to ER stress and hypoxia (PubMed:22637475).Following secretion by the ER/SR, directly binds to 3-O-sulfogalactosylceramide, a lipid sulfatide in the outer cellmembrane of target cells (PubMed:29497057). Sulfatide bindingpromotes its cellular uptake by endocytosis, and is required forits role in alleviating ER stress and cell toxicity under hypoxicand ER stress conditions (PubMed:29497057).{ECO:0000250|UniProtKB:P0C5H9, ECO:0000269|PubMed:12794311,ECO:0000269|PubMed:18561914, ECO:0000269|PubMed:22637475,ECO:0000269|PubMed:29497057}.

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
TgeneSETD2chr3:51423766chr3:47108608ENST00000409792-11212117_214620202565Coiled coilOntology_term=ECO:0000255
TgeneSETD2chr3:51423766chr3:47108608ENST00000409792-11212149_223220202565Compositional biasNote=Pro-rich
TgeneSETD2chr3:51423766chr3:47108608ENST00000409792-11212266_236520202565Compositional biasNote=Gln-rich
TgeneSETD2chr3:51423766chr3:47108608ENST00000409792-11212389_242220202565DomainWW
TgeneSETD2chr3:51423766chr3:47108608ENST00000409792-11212137_236620202565RegionLow charge region

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneSETD2chr3:51423766chr3:47108608ENST00000409792-1121166_24720202565Compositional biasNote=Pro-rich
TgeneSETD2chr3:51423766chr3:47108608ENST00000409792-1121385_45620202565Compositional biasNote=Arg-rich
TgeneSETD2chr3:51423766chr3:47108608ENST00000409792-11211494_154820202565DomainAWS
TgeneSETD2chr3:51423766chr3:47108608ENST00000409792-11211550_166720202565DomainSET
TgeneSETD2chr3:51423766chr3:47108608ENST00000409792-11211674_169020202565DomainPost-SET
TgeneSETD2chr3:51423766chr3:47108608ENST00000409792-11211560_156220202565RegionS-adenosyl-L-methionine binding
TgeneSETD2chr3:51423766chr3:47108608ENST00000409792-11211603_160520202565RegionS-adenosyl-L-methionine binding
TgeneSETD2chr3:51423766chr3:47108608ENST00000409792-11211628_162920202565RegionS-adenosyl-L-methionine binding


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FusionGeneSequence for MANF_SETD2


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_MANF_ENST00000528157_chr3_51423766_+_SETD2_ENST00000409792_chr3_47108608_-_619aa
MRRMWATQGLAVALALSVLPGSRALRPGDCEVCISYLGRFYQDLKDRDVTFSPATIENELIKFCREARGKENRLEVYRIPKKSQTEKENT
TTERGRDAVGFRDQTPAPKTPNRSRERDPDKQTQNKEKRKRRSSLSPPSSAYERGTKRPDDRYDTPTSKKKVRIKDRNKLSTEERRKLFE
QEVAQREAQKQQQQMQNLGMTSPLPYDSLGYNAPHHPFAGYPPGYPMQAYVDPSNPNAGKVLLPTPSMDPVCSPAPYDHAQPLVGHSTEP
LSAPPPVPVVPHVAAPVEVSSSQYVAQSDGVVHQDSSVAVLPVPAPGPVQGQNYSVWDSNQQSVSVQQQYSPAQSQATIYYQGQTCPTVY
GVTSPYSQTTPPIVQSYAQPSLQYIQGQQIFTAHPQGVVVQPAAAVTTIVAPGQPQPLQPSEMVVTNNLLDLPPPSPPKPKTIVLPPNWK
TARDPEGKIYYYHVITRQTQWDPPTWESPGDDASLEHEAEMDLGTPTYDENPMKASKKPKTAEADTSSELAKKSKEVFRKEMSQFIVQCL


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_MANF_ENST00000528157_chr3_51423766_+_SETD2_ENST00000409792_chr3_47108608_-_1857nt
ATGAGGAGGATGTGGGCCACGCAGGGGCTGGCGGTGGCGCTGGCTCTGAGCGTGCTGCCGGGCAGCCGGGCGCTGCGGCCGGGCGACTGC
GAAGTTTGTATTTCTTATCTGGGAAGATTTTACCAGGACCTCAAAGACAGAGATGTCACATTCTCACCAGCCACTATTGAAAACGAACTT
ATAAAGTTCTGCCGGGAAGCAAGAGGCAAAGAGAATCGGTTGGAGGTATATCGAATTCCAAAGAAAAGTCAAACTGAAAAGGAAAACACA
ACAACTGAACGAGGAAGGGATGCTGTTGGCTTCAGAGATCAAACACCTGCCCCGAAGACTCCTAATAGGTCAAGAGAGAGAGACCCAGAC
AAGCAAACTCAAAATAAAGAGAAAAGGAAACGAAGAAGCTCCCTCTCACCACCCTCTTCTGCCTATGAGCGGGGAACAAAAAGGCCAGAT
GACAGATATGATACACCAACTTCTAAAAAGAAAGTACGAATTAAAGACCGCAATAAACTTTCTACAGAGGAACGCCGGAAGTTGTTTGAG
CAAGAGGTGGCTCAACGGGAGGCTCAGAAACAACAGCAACAGATGCAGAACCTGGGAATGACATCACCACTGCCCTATGACTCTCTTGGT
TATAATGCCCCGCATCATCCCTTTGCTGGTTACCCACCAGGTTATCCCATGCAGGCCTATGTGGATCCCAGCAACCCTAATGCTGGAAAG
GTGCTCCTGCCCACACCCAGCATGGACCCAGTGTGTTCTCCTGCTCCTTATGATCATGCTCAGCCCTTGGTGGGACATTCTACAGAACCC
CTTTCTGCCCCTCCACCAGTACCAGTGGTGCCACATGTGGCAGCTCCTGTGGAAGTTTCCAGTTCCCAGTATGTGGCCCAGAGTGATGGT
GTAGTACACCAAGACTCCAGCGTTGCTGTCTTGCCAGTGCCGGCCCCCGGCCCAGTTCAGGGACAGAATTATAGTGTTTGGGATTCAAAC
CAACAGTCTGTCAGTGTACAGCAGCAGTACTCTCCTGCACAGTCTCAAGCAACCATATATTATCAAGGACAGACATGTCCAACAGTCTAT
GGTGTGACATCACCTTATTCACAGACAACTCCACCAATTGTACAGAGTTATGCCCAGCCAAGTCTTCAGTATATCCAGGGGCAACAGATT
TTCACAGCTCATCCACAAGGAGTGGTGGTACAGCCAGCCGCAGCAGTGACTACAATAGTTGCACCAGGGCAGCCTCAGCCCTTGCAGCCA
TCTGAAATGGTTGTGACAAATAATCTCTTGGATCTGCCGCCCCCCTCTCCTCCCAAACCAAAAACCATTGTCTTACCTCCCAACTGGAAG
ACAGCTCGAGATCCAGAAGGGAAGATTTATTACTACCATGTGATCACAAGGCAGACTCAGTGGGATCCTCCTACTTGGGAAAGCCCAGGA
GATGATGCCAGCCTTGAGCATGAAGCTGAGATGGACCTGGGAACTCCAACATATGATGAAAACCCCATGAAGGCCTCGAAAAAGCCCAAG
ACAGCAGAAGCAGACACCTCCAGTGAACTAGCAAAGAAAAGCAAAGAAGTATTCAGAAAAGAGATGTCCCAGTTCATCGTCCAGTGCCTG
AACCCTTACCGGAAACCTGACTGCAAAGTGGGAAGAATTACCACAACTGAAGACTTTAAACATCTGGCTCGCAAGCTGACTCACGGTGTT
ATGAATAAGGAGCTGAAGTACTGTAAGAATCCTGAGGACCTGGAGTGCAATGAGAATGTGAAACACAAAACCAAGGAGTACATTAAGAAG


* Fusion transcript sequences (Full-length transcript).
>In-frame_MANF_ENST00000528157_chr3_51423766_+_SETD2_ENST00000409792_chr3_47108608_-_2557nt
CTTCCGTCGCTGCTGTAGTCGCTTCCTGCGGCCAGCCCGGGTTCAATCAGCGGCCGACAACTGTCTAGGGCTCAGACACCACCAGCCAAT
GAGGGAGGGCAGCGTGGAGCCGCCCGTCTGGGCTCGCGGCTCCTGGACCAATGGGGAAGTGGCATGTGGGAGGGCGCCGGGGGGCCCCCC
GCCAATGGGGAGCTACGGCGCGCGGCCGGGACTTGGAGGCGGTGCGGCGCGGCGGGTGCGGTTCAGTCGGTCGGCGGCGGCAGCGGAGGA
GGAGGAGGAGGAGGAGGAGGAGGAGGATGAGGAGGATGTGGGCCACGCAGGGGCTGGCGGTGGCGCTGGCTCTGAGCGTGCTGCCGGGCA
GCCGGGCGCTGCGGCCGGGCGACTGCGAAGTTTGTATTTCTTATCTGGGAAGATTTTACCAGGACCTCAAAGACAGAGATGTCACATTCT
CACCAGCCACTATTGAAAACGAACTTATAAAGTTCTGCCGGGAAGCAAGAGGCAAAGAGAATCGGTTGGAGGTATATCGAATTCCAAAGA
AAAGTCAAACTGAAAAGGAAAACACAACAACTGAACGAGGAAGGGATGCTGTTGGCTTCAGAGATCAAACACCTGCCCCGAAGACTCCTA
ATAGGTCAAGAGAGAGAGACCCAGACAAGCAAACTCAAAATAAAGAGAAAAGGAAACGAAGAAGCTCCCTCTCACCACCCTCTTCTGCCT
ATGAGCGGGGAACAAAAAGGCCAGATGACAGATATGATACACCAACTTCTAAAAAGAAAGTACGAATTAAAGACCGCAATAAACTTTCTA
CAGAGGAACGCCGGAAGTTGTTTGAGCAAGAGGTGGCTCAACGGGAGGCTCAGAAACAACAGCAACAGATGCAGAACCTGGGAATGACAT
CACCACTGCCCTATGACTCTCTTGGTTATAATGCCCCGCATCATCCCTTTGCTGGTTACCCACCAGGTTATCCCATGCAGGCCTATGTGG
ATCCCAGCAACCCTAATGCTGGAAAGGTGCTCCTGCCCACACCCAGCATGGACCCAGTGTGTTCTCCTGCTCCTTATGATCATGCTCAGC
CCTTGGTGGGACATTCTACAGAACCCCTTTCTGCCCCTCCACCAGTACCAGTGGTGCCACATGTGGCAGCTCCTGTGGAAGTTTCCAGTT
CCCAGTATGTGGCCCAGAGTGATGGTGTAGTACACCAAGACTCCAGCGTTGCTGTCTTGCCAGTGCCGGCCCCCGGCCCAGTTCAGGGAC
AGAATTATAGTGTTTGGGATTCAAACCAACAGTCTGTCAGTGTACAGCAGCAGTACTCTCCTGCACAGTCTCAAGCAACCATATATTATC
AAGGACAGACATGTCCAACAGTCTATGGTGTGACATCACCTTATTCACAGACAACTCCACCAATTGTACAGAGTTATGCCCAGCCAAGTC
TTCAGTATATCCAGGGGCAACAGATTTTCACAGCTCATCCACAAGGAGTGGTGGTACAGCCAGCCGCAGCAGTGACTACAATAGTTGCAC
CAGGGCAGCCTCAGCCCTTGCAGCCATCTGAAATGGTTGTGACAAATAATCTCTTGGATCTGCCGCCCCCCTCTCCTCCCAAACCAAAAA
CCATTGTCTTACCTCCCAACTGGAAGACAGCTCGAGATCCAGAAGGGAAGATTTATTACTACCATGTGATCACAAGGCAGACTCAGTGGG
ATCCTCCTACTTGGGAAAGCCCAGGAGATGATGCCAGCCTTGAGCATGAAGCTGAGATGGACCTGGGAACTCCAACATATGATGAAAACC
CCATGAAGGCCTCGAAAAAGCCCAAGACAGCAGAAGCAGACACCTCCAGTGAACTAGCAAAGAAAAGCAAAGAAGTATTCAGAAAAGAGA
TGTCCCAGTTCATCGTCCAGTGCCTGAACCCTTACCGGAAACCTGACTGCAAAGTGGGAAGAATTACCACAACTGAAGACTTTAAACATC
TGGCTCGCAAGCTGACTCACGGTGTTATGAATAAGGAGCTGAAGTACTGTAAGAATCCTGAGGACCTGGAGTGCAATGAGAATGTGAAAC
ACAAAACCAAGGAGTACATTAAGAAGTACATGCAGAAGTTTGGGGCTGTTTACAAACCCAAAGAGGACACTGAATTAGAGTGACTGTTGG
GCCAGGGTGGGAGGATGGGTGGTCAGGTAAGACAGACTCTAGGGAGAGGAAATCCTGTGGGCCTTTCTGTCCCACCCCTGTCAGCACTGT
GCTACTGATGATACATCACCCTGGGGAATTCAACCCTGCAGATGTCAACTGAAGGCCACAAAAATGAACTCCATCTACAAGTGATTACCT
AGTTGTGAGCTGTTGGCATGTGGTTAGAAGCCATCAGAGGTGCAAGGGCTTAGAAAAGACCCTGGCCAGACCTGACTCCACTCTTAAACC
TGGGTCTTCTCCTTGGCGGTGCTGTCAGCGCACAGACCCATGCGCATCCCCACCCACAACCCTTTACCCTGATGATCTGTATTATATTTT


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FusionGenePPI for MANF_SETD2


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
MANFZDHHC17, CDNF, C1orf123, ENOPH1, MED4, MED20, TCTN1, BCL2L15, ADAM21SETD2HTT, IWS1, TP53, HIST1H3A, SETD2, POLR2A, ELAVL1, ATXN1, CIC, CBX8, SOX2, SMAD3, SIAH2, CLK2, HIST3H3, WDR37, ARHGEF10, LUC7L, SCARA3, AURKA, EIF3I, XPO1, RASSF8, GAN, ATM, HNRNPLL, NXF2, HSPB8, RSBN1, F9, CPNE7, PIP4K2A, TRPC4AP, JMJD6, TRIM25


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with
TgeneSETD2chr3:51423766chr3:47108608ENST00000409792-11212457_256420202565POLR2A


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with
TgeneSETD2chr3:51423766chr3:47108608ENST00000409792-11211418_171420202565TUBA1A


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


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RelatedDrugs for MANF_SETD2


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 MANF_SETD2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneSETD2C0007134Renal Cell Carcinoma2CTD_human
TgeneSETD2C0010606Adenoid Cystic Carcinoma1CTD_human
TgeneSETD2C0010701Phyllodes Tumor1CTD_human
TgeneSETD2C0023418leukemia1CTD_human
TgeneSETD2C0345967Malignant mesothelioma1CTD_human
TgeneSETD2C0920269Microsatellite Instability1CTD_human
TgeneSETD2C1458155Mammary Neoplasms1CTD_human