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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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RelatedDiseases

Fusion gene ID: 34897

FusionGeneSummary for SMG1_SNF8

check button Fusion gene summary
Fusion gene informationFusion gene name: SMG1_SNF8
Fusion gene ID: 34897
HgeneTgene
Gene symbol

SMG1

SNF8

Gene ID

23049

11267

Gene nameSMG1, nonsense mediated mRNA decay associated PI3K related kinaseSNF8, ESCRT-II complex subunit
Synonyms61E3.4|ATX|LIPDot3|EAP30|VPS22
Cytomap

16p12.3

17q21.32

Type of geneprotein-codingprotein-coding
Descriptionserine/threonine-protein kinase SMG1PI-3-kinase-related kinase SMG-1SMG1 phosphatidylinositol 3-kinase-related kinaselambda-interacting proteinlambda/iota protein kinase C-interacting proteinsmg-1 homolog, phosphatidylinositol 3-kinase-related kinasevacuolar-sorting protein SNF8EAP30 subunit of ELL complexELL-associated protein of 30 kDaESCRT-II complex subunit VPS22SNF8, ESCRT-II complex subunit, homolog
Modification date2018052320180523
UniProtAcc

Q96Q15

Q96H20

Ensembl transtripts involved in fusion geneENST00000389467, ENST00000446231, 
ENST00000565224, ENST00000567737, 
ENST00000502492, ENST00000290330, 
ENST00000514089, 
Fusion gene scores* DoF score14 X 10 X 7=9805 X 4 X 5=100
# samples 165
** MAII scorelog2(16/980*10)=-2.61470984411521
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/100*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SMG1 [Title/Abstract] AND SNF8 [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
HgeneSMG1

GO:0000184

nuclear-transcribed mRNA catabolic process, nonsense-mediated decay

11544179

HgeneSMG1

GO:0018105

peptidyl-serine phosphorylation

11544179|15175154

HgeneSMG1

GO:0046777

protein autophosphorylation

11331269|11544179

HgeneSMG1

GO:0046854

phosphatidylinositol phosphorylation

11331269

HgeneSMG1

GO:2001020

regulation of response to DNA damage stimulus

15175154

TgeneSNF8

GO:0006357

regulation of transcription by RNA polymerase II

10419521


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
TCGARVPRADTCGA-XJ-A9DK-01ASMG1chr16

18937272

-SNF8chr17

47018424

-
* 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-frameENST00000389467ENST00000502492SMG1chr16

18937272

-SNF8chr17

47018424

-
In-frameENST00000389467ENST00000290330SMG1chr16

18937272

-SNF8chr17

47018424

-
5CDS-intronENST00000389467ENST00000514089SMG1chr16

18937272

-SNF8chr17

47018424

-
In-frameENST00000446231ENST00000502492SMG1chr16

18937272

-SNF8chr17

47018424

-
In-frameENST00000446231ENST00000290330SMG1chr16

18937272

-SNF8chr17

47018424

-
5CDS-intronENST00000446231ENST00000514089SMG1chr16

18937272

-SNF8chr17

47018424

-
intron-3CDSENST00000565224ENST00000502492SMG1chr16

18937272

-SNF8chr17

47018424

-
intron-3CDSENST00000565224ENST00000290330SMG1chr16

18937272

-SNF8chr17

47018424

-
intron-intronENST00000565224ENST00000514089SMG1chr16

18937272

-SNF8chr17

47018424

-
5UTR-3CDSENST00000567737ENST00000502492SMG1chr16

18937272

-SNF8chr17

47018424

-
5UTR-3CDSENST00000567737ENST00000290330SMG1chr16

18937272

-SNF8chr17

47018424

-
5UTR-intronENST00000567737ENST00000514089SMG1chr16

18937272

-SNF8chr17

47018424

-

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FusionProtFeatures for SMG1_SNF8


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SMG1

Q96Q15

SNF8

Q96H20

Serine/threonine protein kinase involved in both mRNAsurveillance and genotoxic stress response pathways. Recognizesthe substrate consensus sequence [ST]-Q. Plays a central role innonsense-mediated decay (NMD) of mRNAs containing premature stopcodons by phosphorylating UPF1/RENT1. Recruited by release factorsto stalled ribosomes together with SMG8 and SMG9 (forming theSMG1C protein kinase complex), and UPF1 to form the transient SURF(SMG1-UPF1-eRF1-eRF3) complex. In EJC-dependent NMD, the SURFcomplex associates with the exon junction complex (EJC) throughUPF2 and allows the formation of an UPF1-UPF2-UPF3 surveillancecomplex which is believed to activate NMD. Also acts as agenotoxic stress-activated protein kinase that displays somefunctional overlap with ATM. Can phosphorylate p53/TP53 and isrequired for optimal p53/TP53 activation after cellular exposureto genotoxic stress. Its depletion leads to spontaneous DNA damageand increased sensitivity to ionizing radiation (IR). May activatePRKCI but not PRKCZ. {ECO:0000269|PubMed:11331269,ECO:0000269|PubMed:11544179, ECO:0000269|PubMed:15175154,ECO:0000269|PubMed:16452507}. Component of the endosomal sorting complex required fortransport II (ESCRT-II), which is required for multivesicular body(MVB) formation and sorting of endosomal cargo proteins into MVBs.The MVB pathway mediates delivery of transmembrane proteins intothe lumen of the lysosome for degradation. The ESCRT-II complex isprobably involved in the recruitment of the ESCRT-III complex. TheESCRT-II complex may also play a role in transcription regulationby participating in derepression of transcription by RNApolymerase II, possibly via its interaction with ELL. Required fordegradation of both endocytosed EGF and EGFR, but not for the EGFRligand-mediated internalization. It is also required for thedegradation of CXCR4. Required for the exosomal release of SDCBP,CD63 and syndecan (PubMed:22660413). {ECO:0000269|PubMed:17714434,ECO:0000269|PubMed:17959629, ECO:0000269|PubMed:18031739,ECO:0000269|PubMed:22660413}.

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
HgeneSMG1chr16:18937272chr17:47018424ENST00000446231-1631131_1866303662DomainFAT
HgeneSMG1chr16:18937272chr17:47018424ENST00000446231-1632150_2478303662DomainPI3K/PI4K
HgeneSMG1chr16:18937272chr17:47018424ENST00000446231-1633629_3661303662DomainFATC
HgeneSMG1chr16:18937272chr17:47018424ENST00000446231-1631817_1852303662RepeatNote=HEAT
TgeneSNF8chr16:18937272chr17:47018424ENST00000290330-1827_5335258Coiled coilOntology_term=ECO:0000255
TgeneSNF8chr16:18937272chr17:47018424ENST00000502492-1827_5335259Coiled coilOntology_term=ECO:0000255


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FusionGeneSequence for SMG1_SNF8


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_SMG1_ENST00000389467_chr16_18937272_-_SNF8_ENST00000502492_chr17_47018424_-_254aa
MSRRAPGSRLSSGGGGGGTKYPRSWNDWQPRCQSSWTCSRPTWRNLPANTSRRSGRILSSVCSSRTCVQPLAWIRWPLEKDFGLRCWAWG
TSITNXVSKLSKCAWRXSIGMEVXXLWRNYINRCXREGASSPRMSVKMTXSEPSRNXRHLALASASSLWAALTSFSLFQLSSIWITPWCC

>In-frame_SMG1_ENST00000389467_chr16_18937272_-_SNF8_ENST00000290330_chr17_47018424_-_253aa
MSRRAPGSRLSSGGGGGGTKYPRSWNDWQPRCQSSWTCSRPTWRNLPANTSRRSGRILSSVCSSRTCVQPLAWIRWPLEKDFGLRCWAWG
TSITNXVSKLSKCAWRXSIGMEVXXLWRNYINRCXREGASSPRMSVKMTXSEPSRNXRHLALASASSLWAALTSFSLFQLSSIWITPWCC

>In-frame_SMG1_ENST00000446231_chr16_18937272_-_SNF8_ENST00000502492_chr17_47018424_-_254aa
MSRRAPGSRLSSGGGGGGTKYPRSWNDWQPRCQSSWTCSRPTWRNLPANTSRRSGRILSSVCSSRTCVQPLAWIRWPLEKDFGLRCWAWG
TSITNXVSKLSKCAWRXSIGMEVXXLWRNYINRCXREGASSPRMSVKMTXSEPSRNXRHLALASASSLWAALTSFSLFQLSSIWITPWCC

>In-frame_SMG1_ENST00000446231_chr16_18937272_-_SNF8_ENST00000290330_chr17_47018424_-_253aa
MSRRAPGSRLSSGGGGGGTKYPRSWNDWQPRCQSSWTCSRPTWRNLPANTSRRSGRILSSVCSSRTCVQPLAWIRWPLEKDFGLRCWAWG
TSITNXVSKLSKCAWRXSIGMEVXXLWRNYINRCXREGASSPRMSVKMTXSEPSRNXRHLALASASSLWAALTSFSLFQLSSIWITPWCC


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_SMG1_ENST00000389467_chr16_18937272_-_SNF8_ENST00000502492_chr17_47018424_-_764nt
ATGAGCCGCAGAGCCCCGGGGTCTCGGCTGAGCAGCGGCGGCGGCGGCGGCGGCACCAAGTATCCGCGGAGCTGGAATGACTGGCAACCC
AGATGTCAAAGCAGTTGGACATGTTCAAGACCAACCTGGAGGAATTTGCCAGCAAACACAAGCAGGAGATCCGGAAGAATCCTGAGTTCC
GTGTGCAGTTCCAGGACATGTGTGCAACCATTGGCGTGGATCCGCTGGCCTCTGGAAAAGGATTTTGGTCTGAGATGCTGGGCGTGGGGG
ACTTCTATTACGAACTAGGTGTCCAAATTATCGAAGTGTGCCTGGCGCTGAAGCATCGGAATGGAGGTCTGATAACTTTGGAGGAACTAC
ATCAACAGGTGTTGAAGGGAAGGGGCAAGTTCGCCCAGGATGTCAGTCAAGATGACCTGATCAGAGCCATCAAGAAACTAAAGGCACTTG
GCACTGGCTTCGGCATCATCCCTGTGGGCGGCACTTACCTCATTCAGTCTGTTCCAGCTGAGCTCAATATGGATCACACCGTGGTGCTGC
AGCTGGCAGAGAAGAATGGCTACGTGACTGTCAGTGAGATCAAAGCCAGTCTTAAATGGGAGACCGAGCGAGCGCGGCAAGTGCTGGAAC
ACCTGCTGAAGGAAGGGTTGGCGTGGCTGGACTTACAGGCCCCAGGGGAGGCCCACTACTGGCTGCCAGCTCTCTTCACTGACCTCTACT

>In-frame_SMG1_ENST00000389467_chr16_18937272_-_SNF8_ENST00000290330_chr17_47018424_-_761nt
ATGAGCCGCAGAGCCCCGGGGTCTCGGCTGAGCAGCGGCGGCGGCGGCGGCGGCACCAAGTATCCGCGGAGCTGGAATGACTGGCAACCC
AGATGTCAAAGCAGTTGGACATGTTCAAGACCAACCTGGAGGAATTTGCCAGCAAACACAAGCAGGAGATCCGGAAGAATCCTGAGTTCC
GTGTGCAGTTCCAGGACATGTGTGCAACCATTGGCGTGGATCCGCTGGCCTCTGGAAAAGGATTTTGGTCTGAGATGCTGGGCGTGGGGG
ACTTCTATTACGAACTAGGTGTCCAAATTATCGAAGTGTGCCTGGCGCTGAAGCATCGGAATGGAGGTCTGATAACTTTGGAGGAACTAC
ATCAACAGGTGTTGAAGGGAAGGGGCAAGTTCGCCCAGGATGTCAGTCAAGATGACCTGATCAGAGCCATCAAGAAACTAAAGGCACTTG
GCACTGGCTTCGGCATCATCCCTGTGGGCGGCACTTACCTCATTCAGTCTGTTCCAGCTGAGCTCAATATGGATCACACCGTGGTGCTGC
AGCTGGCAGAGAATGGCTACGTGACTGTCAGTGAGATCAAAGCCAGTCTTAAATGGGAGACCGAGCGAGCGCGGCAAGTGCTGGAACACC
TGCTGAAGGAAGGGTTGGCGTGGCTGGACTTACAGGCCCCAGGGGAGGCCCACTACTGGCTGCCAGCTCTCTTCACTGACCTCTACTCCC

>In-frame_SMG1_ENST00000446231_chr16_18937272_-_SNF8_ENST00000502492_chr17_47018424_-_764nt
ATGAGCCGCAGAGCCCCGGGGTCTCGGCTGAGCAGCGGCGGCGGCGGCGGCGGCACCAAGTATCCGCGGAGCTGGAATGACTGGCAACCC
AGATGTCAAAGCAGTTGGACATGTTCAAGACCAACCTGGAGGAATTTGCCAGCAAACACAAGCAGGAGATCCGGAAGAATCCTGAGTTCC
GTGTGCAGTTCCAGGACATGTGTGCAACCATTGGCGTGGATCCGCTGGCCTCTGGAAAAGGATTTTGGTCTGAGATGCTGGGCGTGGGGG
ACTTCTATTACGAACTAGGTGTCCAAATTATCGAAGTGTGCCTGGCGCTGAAGCATCGGAATGGAGGTCTGATAACTTTGGAGGAACTAC
ATCAACAGGTGTTGAAGGGAAGGGGCAAGTTCGCCCAGGATGTCAGTCAAGATGACCTGATCAGAGCCATCAAGAAACTAAAGGCACTTG
GCACTGGCTTCGGCATCATCCCTGTGGGCGGCACTTACCTCATTCAGTCTGTTCCAGCTGAGCTCAATATGGATCACACCGTGGTGCTGC
AGCTGGCAGAGAAGAATGGCTACGTGACTGTCAGTGAGATCAAAGCCAGTCTTAAATGGGAGACCGAGCGAGCGCGGCAAGTGCTGGAAC
ACCTGCTGAAGGAAGGGTTGGCGTGGCTGGACTTACAGGCCCCAGGGGAGGCCCACTACTGGCTGCCAGCTCTCTTCACTGACCTCTACT

>In-frame_SMG1_ENST00000446231_chr16_18937272_-_SNF8_ENST00000290330_chr17_47018424_-_761nt
ATGAGCCGCAGAGCCCCGGGGTCTCGGCTGAGCAGCGGCGGCGGCGGCGGCGGCACCAAGTATCCGCGGAGCTGGAATGACTGGCAACCC
AGATGTCAAAGCAGTTGGACATGTTCAAGACCAACCTGGAGGAATTTGCCAGCAAACACAAGCAGGAGATCCGGAAGAATCCTGAGTTCC
GTGTGCAGTTCCAGGACATGTGTGCAACCATTGGCGTGGATCCGCTGGCCTCTGGAAAAGGATTTTGGTCTGAGATGCTGGGCGTGGGGG
ACTTCTATTACGAACTAGGTGTCCAAATTATCGAAGTGTGCCTGGCGCTGAAGCATCGGAATGGAGGTCTGATAACTTTGGAGGAACTAC
ATCAACAGGTGTTGAAGGGAAGGGGCAAGTTCGCCCAGGATGTCAGTCAAGATGACCTGATCAGAGCCATCAAGAAACTAAAGGCACTTG
GCACTGGCTTCGGCATCATCCCTGTGGGCGGCACTTACCTCATTCAGTCTGTTCCAGCTGAGCTCAATATGGATCACACCGTGGTGCTGC
AGCTGGCAGAGAATGGCTACGTGACTGTCAGTGAGATCAAAGCCAGTCTTAAATGGGAGACCGAGCGAGCGCGGCAAGTGCTGGAACACC
TGCTGAAGGAAGGGTTGGCGTGGCTGGACTTACAGGCCCCAGGGGAGGCCCACTACTGGCTGCCAGCTCTCTTCACTGACCTCTACTCCC


* Fusion transcript sequences (Full-length transcript).
>In-frame_SMG1_ENST00000389467_chr16_18937272_-_SNF8_ENST00000502492_chr17_47018424_-_2286nt
GCCGTGTGAGCGTGAGGAGCTGCCGCCACCGCCTGCTCCTCGTCGTCCTCGTCCTCCGGGGCCCCGGCGACGTGGGCCGCGCACGGCCCT
GGAAAAGACGTCGCCTCCCCTTCATCCGCCTCTCTCTCACCGCGCCGCTCCCGCCTCCTCGTCCTGCGCTGCGGGCTCAGGCGGAACCCG
GAACGGCCGTCCTCTTCCCCCGCCCTCCGCCGCCTCCTCCTTCTCCTCCTCCTCCTCCTCCTCCTCCTTCTCGGCTTCCTCCTCAGCCCC
GGGCCGGAGCGGGGTGTCGGCGGCGGCCGGTTCGGGCGGCGACTCGCGCTTCTTTGGGCGGCGGCGCTTGGCCATGTCGTGTCGGGGAAG
GTAATGAGCCGCAGAGCCCCGGGGTCTCGGCTGAGCAGCGGCGGCGGCGGCGGCGGCACCAAGTATCCGCGGAGCTGGAATGACTGGCAA
CCCAGATGTCAAAGCAGTTGGACATGTTCAAGACCAACCTGGAGGAATTTGCCAGCAAACACAAGCAGGAGATCCGGAAGAATCCTGAGT
TCCGTGTGCAGTTCCAGGACATGTGTGCAACCATTGGCGTGGATCCGCTGGCCTCTGGAAAAGGATTTTGGTCTGAGATGCTGGGCGTGG
GGGACTTCTATTACGAACTAGGTGTCCAAATTATCGAAGTGTGCCTGGCGCTGAAGCATCGGAATGGAGGTCTGATAACTTTGGAGGAAC
TACATCAACAGGTGTTGAAGGGAAGGGGCAAGTTCGCCCAGGATGTCAGTCAAGATGACCTGATCAGAGCCATCAAGAAACTAAAGGCAC
TTGGCACTGGCTTCGGCATCATCCCTGTGGGCGGCACTTACCTCATTCAGTCTGTTCCAGCTGAGCTCAATATGGATCACACCGTGGTGC
TGCAGCTGGCAGAGAAGAATGGCTACGTGACTGTCAGTGAGATCAAAGCCAGTCTTAAATGGGAGACCGAGCGAGCGCGGCAAGTGCTGG
AACACCTGCTGAAGGAAGGGTTGGCGTGGCTGGACTTACAGGCCCCAGGGGAGGCCCACTACTGGCTGCCAGCTCTCTTCACTGACCTCT
ACTCCCAGGAGATTACAGCTGAGGAGGCCAGAGAAGCCCTCCCCTGACTGCATGTGGAAGGGCACACAGCAGCAGGCAGGGAGGAGGCGG
AGGTGGCAAATAAACCTGGGCAATTTTGTTTATACAAAAAATAGAAAAAAAGTTCCAAGTTTTTCTTTCTTCCCTCATTCTTTTATTTTT
GAAAAGTGCCTTCACGTTGCATTTTTATTGGAGGAAAACCTCGCTCGTTCAGTAAGCATAATCTGATTAACACAGAGAACGGCAAGCACA
TATAAAATGATTTTTGTAGGTCATCTGCAAGTTCATGGAAGAGCTGGGCCTAGAATGTGGGTTGTTTCCTGGCCTGTCTAGTCTTTGTAG
CTGTGAGACATAGATTACAGCCTATGCTAATTCAAACCTTTTAAATAAAATGTTCCTTATCTCAAACTAGCTGGTCCTAATGGACCAGTA
AATAATATTCACTTTCAGTCTCTTCTGGCTTCCTCTGTAGAGGCTCTAGGTTATGACAGAGTTAGCTGTGAGTATGAAGGAAATAGAAGT
CAATGTCCAATCGTGGCTAAATTGGAGGAAAGAAAACAATGGAATCTGAGGGGAATCAAACAATAGTTAGGGAATGTTCTATTTTCTTAA
ATTCCCTACTAGCTTTCTCACCCTCCTGTAGTGATTGCCAGGTCCCTCTAGCCTCAGTAGTGGGAAAGGGAGTCATTTACTGAACACCTA
CCCTGTGCCATTTTACATACAGCTCACTTAAATTTCACCAAGTAGGCAGCCTTCAACATCACAGGTGATTCAATCAAAGTAATTTGCCAG
GGGCCGCCAGCTTCAGCCGAGCTAAAGCTGGTGCCTAGGCCTATTAACCCGAGCCCATGCCTTCATGTATCACTGCATAGTACAGAATGG
CAGCACATACTGTGTGTAGACATTTTTCTACACACGTGGTCAGCCAAGAGTAAAAGCCTCTGCATCAGAAAGCAAGAATCTCCTATAGCA
AGTAGAAGTGGTGATGAGGGAAGAGGCCAGAGTTGTTTAAGGCTCCCAAAGTCCTTATGGTCTAAAGGCTAAGATCCTAAAAGTGCTAGT
TTAGTACTGGAAATCTGAAAACTCAATGGTTTTTCCATACTGAGACCCTTCCTTTAGCAGGATATAGCCTGGGCCCATCTCTTCCTCTGC

>In-frame_SMG1_ENST00000389467_chr16_18937272_-_SNF8_ENST00000290330_chr17_47018424_-_1225nt
GCCGTGTGAGCGTGAGGAGCTGCCGCCACCGCCTGCTCCTCGTCGTCCTCGTCCTCCGGGGCCCCGGCGACGTGGGCCGCGCACGGCCCT
GGAAAAGACGTCGCCTCCCCTTCATCCGCCTCTCTCTCACCGCGCCGCTCCCGCCTCCTCGTCCTGCGCTGCGGGCTCAGGCGGAACCCG
GAACGGCCGTCCTCTTCCCCCGCCCTCCGCCGCCTCCTCCTTCTCCTCCTCCTCCTCCTCCTCCTCCTTCTCGGCTTCCTCCTCAGCCCC
GGGCCGGAGCGGGGTGTCGGCGGCGGCCGGTTCGGGCGGCGACTCGCGCTTCTTTGGGCGGCGGCGCTTGGCCATGTCGTGTCGGGGAAG
GTAATGAGCCGCAGAGCCCCGGGGTCTCGGCTGAGCAGCGGCGGCGGCGGCGGCGGCACCAAGTATCCGCGGAGCTGGAATGACTGGCAA
CCCAGATGTCAAAGCAGTTGGACATGTTCAAGACCAACCTGGAGGAATTTGCCAGCAAACACAAGCAGGAGATCCGGAAGAATCCTGAGT
TCCGTGTGCAGTTCCAGGACATGTGTGCAACCATTGGCGTGGATCCGCTGGCCTCTGGAAAAGGATTTTGGTCTGAGATGCTGGGCGTGG
GGGACTTCTATTACGAACTAGGTGTCCAAATTATCGAAGTGTGCCTGGCGCTGAAGCATCGGAATGGAGGTCTGATAACTTTGGAGGAAC
TACATCAACAGGTGTTGAAGGGAAGGGGCAAGTTCGCCCAGGATGTCAGTCAAGATGACCTGATCAGAGCCATCAAGAAACTAAAGGCAC
TTGGCACTGGCTTCGGCATCATCCCTGTGGGCGGCACTTACCTCATTCAGTCTGTTCCAGCTGAGCTCAATATGGATCACACCGTGGTGC
TGCAGCTGGCAGAGAATGGCTACGTGACTGTCAGTGAGATCAAAGCCAGTCTTAAATGGGAGACCGAGCGAGCGCGGCAAGTGCTGGAAC
ACCTGCTGAAGGAAGGGTTGGCGTGGCTGGACTTACAGGCCCCAGGGGAGGCCCACTACTGGCTGCCAGCTCTCTTCACTGACCTCTACT
CCCAGGAGATTACAGCTGAGGAGGCCAGAGAAGCCCTCCCCTGACTGCATGTGGAAGGGCACACAGCAGCAGGCAGGGAGGAGGCGGAGG

>In-frame_SMG1_ENST00000446231_chr16_18937272_-_SNF8_ENST00000502492_chr17_47018424_-_2336nt
GTGCGACAGCGGCGGCGCGGCGGGCGGAGCCGGGAGGCGGGGAAGCAGTGGCCGTGTGAGCGTGAGGAGCTGCCGCCACCGCCTGCTCCT
CGTCGTCCTCGTCCTCCGGGGCCCCGGCGACGTGGGCCGCGCACGGCCCTGGAAAAGACGTCGCCTCCCCTTCATCCGCCTCTCTCTCAC
CGCGCCGCTCCCGCCTCCTCGTCCTGCGCTGCGGGCTCAGGCGGAACCCGGAACGGCCGTCCTCTTCCCCCGCCCTCCGCCGCCTCCTCC
TTCTCCTCCTCCTCCTCCTCCTCCTCCTTCTCGGCTTCCTCCTCAGCCCCGGGCCGGAGCGGGGTGTCGGCGGCGGCCGGTTCGGGCGGC
GACTCGCGCTTCTTTGGGCGGCGGCGCTTGGCCATGTCGTGTCGGGGAAGGTAATGAGCCGCAGAGCCCCGGGGTCTCGGCTGAGCAGCG
GCGGCGGCGGCGGCGGCACCAAGTATCCGCGGAGCTGGAATGACTGGCAACCCAGATGTCAAAGCAGTTGGACATGTTCAAGACCAACCT
GGAGGAATTTGCCAGCAAACACAAGCAGGAGATCCGGAAGAATCCTGAGTTCCGTGTGCAGTTCCAGGACATGTGTGCAACCATTGGCGT
GGATCCGCTGGCCTCTGGAAAAGGATTTTGGTCTGAGATGCTGGGCGTGGGGGACTTCTATTACGAACTAGGTGTCCAAATTATCGAAGT
GTGCCTGGCGCTGAAGCATCGGAATGGAGGTCTGATAACTTTGGAGGAACTACATCAACAGGTGTTGAAGGGAAGGGGCAAGTTCGCCCA
GGATGTCAGTCAAGATGACCTGATCAGAGCCATCAAGAAACTAAAGGCACTTGGCACTGGCTTCGGCATCATCCCTGTGGGCGGCACTTA
CCTCATTCAGTCTGTTCCAGCTGAGCTCAATATGGATCACACCGTGGTGCTGCAGCTGGCAGAGAAGAATGGCTACGTGACTGTCAGTGA
GATCAAAGCCAGTCTTAAATGGGAGACCGAGCGAGCGCGGCAAGTGCTGGAACACCTGCTGAAGGAAGGGTTGGCGTGGCTGGACTTACA
GGCCCCAGGGGAGGCCCACTACTGGCTGCCAGCTCTCTTCACTGACCTCTACTCCCAGGAGATTACAGCTGAGGAGGCCAGAGAAGCCCT
CCCCTGACTGCATGTGGAAGGGCACACAGCAGCAGGCAGGGAGGAGGCGGAGGTGGCAAATAAACCTGGGCAATTTTGTTTATACAAAAA
ATAGAAAAAAAGTTCCAAGTTTTTCTTTCTTCCCTCATTCTTTTATTTTTGAAAAGTGCCTTCACGTTGCATTTTTATTGGAGGAAAACC
TCGCTCGTTCAGTAAGCATAATCTGATTAACACAGAGAACGGCAAGCACATATAAAATGATTTTTGTAGGTCATCTGCAAGTTCATGGAA
GAGCTGGGCCTAGAATGTGGGTTGTTTCCTGGCCTGTCTAGTCTTTGTAGCTGTGAGACATAGATTACAGCCTATGCTAATTCAAACCTT
TTAAATAAAATGTTCCTTATCTCAAACTAGCTGGTCCTAATGGACCAGTAAATAATATTCACTTTCAGTCTCTTCTGGCTTCCTCTGTAG
AGGCTCTAGGTTATGACAGAGTTAGCTGTGAGTATGAAGGAAATAGAAGTCAATGTCCAATCGTGGCTAAATTGGAGGAAAGAAAACAAT
GGAATCTGAGGGGAATCAAACAATAGTTAGGGAATGTTCTATTTTCTTAAATTCCCTACTAGCTTTCTCACCCTCCTGTAGTGATTGCCA
GGTCCCTCTAGCCTCAGTAGTGGGAAAGGGAGTCATTTACTGAACACCTACCCTGTGCCATTTTACATACAGCTCACTTAAATTTCACCA
AGTAGGCAGCCTTCAACATCACAGGTGATTCAATCAAAGTAATTTGCCAGGGGCCGCCAGCTTCAGCCGAGCTAAAGCTGGTGCCTAGGC
CTATTAACCCGAGCCCATGCCTTCATGTATCACTGCATAGTACAGAATGGCAGCACATACTGTGTGTAGACATTTTTCTACACACGTGGT
CAGCCAAGAGTAAAAGCCTCTGCATCAGAAAGCAAGAATCTCCTATAGCAAGTAGAAGTGGTGATGAGGGAAGAGGCCAGAGTTGTTTAA
GGCTCCCAAAGTCCTTATGGTCTAAAGGCTAAGATCCTAAAAGTGCTAGTTTAGTACTGGAAATCTGAAAACTCAATGGTTTTTCCATAC

>In-frame_SMG1_ENST00000446231_chr16_18937272_-_SNF8_ENST00000290330_chr17_47018424_-_1275nt
GTGCGACAGCGGCGGCGCGGCGGGCGGAGCCGGGAGGCGGGGAAGCAGTGGCCGTGTGAGCGTGAGGAGCTGCCGCCACCGCCTGCTCCT
CGTCGTCCTCGTCCTCCGGGGCCCCGGCGACGTGGGCCGCGCACGGCCCTGGAAAAGACGTCGCCTCCCCTTCATCCGCCTCTCTCTCAC
CGCGCCGCTCCCGCCTCCTCGTCCTGCGCTGCGGGCTCAGGCGGAACCCGGAACGGCCGTCCTCTTCCCCCGCCCTCCGCCGCCTCCTCC
TTCTCCTCCTCCTCCTCCTCCTCCTCCTTCTCGGCTTCCTCCTCAGCCCCGGGCCGGAGCGGGGTGTCGGCGGCGGCCGGTTCGGGCGGC
GACTCGCGCTTCTTTGGGCGGCGGCGCTTGGCCATGTCGTGTCGGGGAAGGTAATGAGCCGCAGAGCCCCGGGGTCTCGGCTGAGCAGCG
GCGGCGGCGGCGGCGGCACCAAGTATCCGCGGAGCTGGAATGACTGGCAACCCAGATGTCAAAGCAGTTGGACATGTTCAAGACCAACCT
GGAGGAATTTGCCAGCAAACACAAGCAGGAGATCCGGAAGAATCCTGAGTTCCGTGTGCAGTTCCAGGACATGTGTGCAACCATTGGCGT
GGATCCGCTGGCCTCTGGAAAAGGATTTTGGTCTGAGATGCTGGGCGTGGGGGACTTCTATTACGAACTAGGTGTCCAAATTATCGAAGT
GTGCCTGGCGCTGAAGCATCGGAATGGAGGTCTGATAACTTTGGAGGAACTACATCAACAGGTGTTGAAGGGAAGGGGCAAGTTCGCCCA
GGATGTCAGTCAAGATGACCTGATCAGAGCCATCAAGAAACTAAAGGCACTTGGCACTGGCTTCGGCATCATCCCTGTGGGCGGCACTTA
CCTCATTCAGTCTGTTCCAGCTGAGCTCAATATGGATCACACCGTGGTGCTGCAGCTGGCAGAGAATGGCTACGTGACTGTCAGTGAGAT
CAAAGCCAGTCTTAAATGGGAGACCGAGCGAGCGCGGCAAGTGCTGGAACACCTGCTGAAGGAAGGGTTGGCGTGGCTGGACTTACAGGC
CCCAGGGGAGGCCCACTACTGGCTGCCAGCTCTCTTCACTGACCTCTACTCCCAGGAGATTACAGCTGAGGAGGCCAGAGAAGCCCTCCC
CTGACTGCATGTGGAAGGGCACACAGCAGCAGGCAGGGAGGAGGCGGAGGTGGCAAATAAACCTGGGCAATTTTGTTTATACAAAAAATA


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FusionGenePPI for SMG1_SNF8


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
SMG1PRKCI, SMG1, UPF1, UPF2, UPF3A, TTI1, TELO2, ELAVL1, SMG8, SMG9, RBM8A, UPF3B, NCBP2, PABPC1, SMG7, EIF4A3, MAGOH, GSPT2, GSPT1, EEF2, HSP90AA1, HSPA4, RUVBL1, RUVBL2, POLR2E, TUBA1A, TUBG1, HAUS2, HTR6, HSP90B1, EGFR, EPHA1SNF8VPS25, DVL2, NIF3L1, ELL, SNF8, VPS36, CHMP6, VPS28, TSG101, RILP, METTL14, NUDCD3, MCM2, RBP1, KDM1A, PRMT6, ADORA1, SUV39H2, GTF2F1, ACBD3, BCAT1, DUS3L, EFTUD2, GTF2E1, HARS, RPUSD2, TTC1, WDR12, GOLGA2, VAC14, TRIM54, HAT1, PSMD3, UBA6, UBL7, TLN2, YWHAE


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
HgeneSMG1chr16:18937272chr17:47018424ENST00000446231-1631_1977303662SMG8 and SMG9


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


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RelatedDrugs for SMG1_SNF8


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 SMG1_SNF8


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