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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:SMG1-IGSF6 (FusionGDB2 ID:83485)

Fusion Gene Summary for SMG1-IGSF6

check button Fusion gene summary
Fusion gene informationFusion gene name: SMG1-IGSF6
Fusion gene ID: 83485
HgeneTgene
Gene symbol

SMG1

IGSF6

Gene ID

23049

10261

Gene nameSMG1 nonsense mediated mRNA decay associated PI3K related kinaseimmunoglobulin superfamily member 6
Synonyms61E3.4|ATX|LIPDORA
Cytomap

16p12.3

16p12.2

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 kinaseimmunoglobulin superfamily member 6down-regulated by activation (immunoglobulin superfamily)
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000389467, ENST00000446231, 
ENST00000565224, ENST00000567737, 
ENST00000268389, 
Fusion gene scores* DoF score28 X 23 X 9=57961 X 1 X 1=1
# samples 311
** MAII scorelog2(31/5796*10)=-4.22471747428269
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(1/1*10)=3.32192809488736
Context

PubMed: SMG1 [Title/Abstract] AND IGSF6 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointSMG1(18908114)-IGSF6(21658813), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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


check buttonFusion gene breakpoints across SMG1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across IGSF6 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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-CG-5718SMG1chr16

18908114

-IGSF6chr16

21658813

-


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Fusion Gene ORF analysis for SMG1-IGSF6

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-frameENST00000389467ENST00000268389SMG1chr16

18908114

-IGSF6chr16

21658813

-
In-frameENST00000446231ENST00000268389SMG1chr16

18908114

-IGSF6chr16

21658813

-
In-frameENST00000565224ENST00000268389SMG1chr16

18908114

-IGSF6chr16

21658813

-
intron-3CDSENST00000567737ENST00000268389SMG1chr16

18908114

-IGSF6chr16

21658813

-

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000389467SMG1chr1618908114-ENST00000268389IGSF6chr1621658813-15246191531277374
ENST00000446231SMG1chr1618908114-ENST00000268389IGSF6chr1621658813-15746692031327374
ENST00000565224SMG1chr1618908114-ENST00000268389IGSF6chr1621658813-112722244880278

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
ENST00000389467ENST00000268389SMG1chr1618908114-IGSF6chr1621658813-0.007342180.99265784
ENST00000446231ENST00000268389SMG1chr1618908114-IGSF6chr1621658813-0.007060020.99293995
ENST00000565224ENST00000268389SMG1chr1618908114-IGSF6chr1621658813-0.0063032350.99369675

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Fusion Genomic Features for SMG1-IGSF6


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for SMG1-IGSF6


check button Go to

FGviewer for the breakpoints of chr16:18908114-chr16:21658813

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
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.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneIGSF6chr16:18908114chr16:21658813ENST000002683890630_13422.333333333333332242.0DomainNote=Ig-like C2-type
TgeneIGSF6chr16:18908114chr16:21658813ENST0000026838906175_24122.333333333333332242.0Topological domainCytoplasmic
TgeneIGSF6chr16:18908114chr16:21658813ENST000002683890628_15322.333333333333332242.0Topological domainExtracellular
TgeneIGSF6chr16:18908114chr16:21658813ENST0000026838906154_17422.333333333333332242.0TransmembraneHelical

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneSMG1chr16:18908114chr16:21658813ENST00000446231-2631283_186685.333333333333333662.0DomainFAT
HgeneSMG1chr16:18908114chr16:21658813ENST00000446231-2632150_247885.333333333333333662.0DomainPI3K/PI4K
HgeneSMG1chr16:18908114chr16:21658813ENST00000446231-2633629_366185.333333333333333662.0DomainFATC
HgeneSMG1chr16:18908114chr16:21658813ENST00000446231-2631817_185285.333333333333333662.0RepeatNote=HEAT


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Fusion Gene Sequence for SMG1-IGSF6


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>In-frame_ENST00000389467_ENST00000268389_TCGA-CG-5718_SMG1_chr16_18908114_-_IGSF6_chr16_21658813_length(transcript)=1524nt_BP=619nt
GCCGTGTGAGCGTGAGGAGCTGCCGCCACCGCCTGCTCCTCGTCGTCCTCGTCCTCCGGGGCCCCGGCGACGTGGGCCGCGCACGGCCCT
GGAAAAGACGTCGCCTCCCCTTCATCCGCCTCTCTCTCACCGCGCCGCTCCCGCCTCCTCGTCCTGCGCTGCGGGCTCAGGCGGAACCCG
GAACGGCCGTCCTCTTCCCCCGCCCTCCGCCGCCTCCTCCTTCTCCTCCTCCTCCTCCTCCTCCTCCTTCTCGGCTTCCTCCTCAGCCCC
GGGCCGGAGCGGGGTGTCGGCGGCGGCCGGTTCGGGCGGCGACTCGCGCTTCTTTGGGCGGCGGCGCTTGGCCATGTCGTGTCGGGGAAG
GTAATGAGCCGCAGAGCCCCGGGGTCTCGGCTGAGCAGCGGCGGCGGCGGCGGCGGCACCAAGTATCCGCGGAGCTGGAATGACTGGCAA
CCCAGAACTGATAGTGCATCAGCCGACCCAGATAATTTAAAATATTCTTCATCCAGAGATAGAGGTGGTTCTTCCTCTTATGGACTGCAA
CCTTCAAATTCAGCTGTGGTGTCTCGGCAAAGGCACGATGATACCAGAGTCCACGCTGACATACAGAATGACGAAAAGGGTGCTGTGGGC
GCCTGTACTCTCTCTGTCACACAACCGTGGTACCTAGAAGTGGACTACACTCATGAGGCCGTCACCATAAAGTGTACCTTCTCCGCAACC
GGATGCCCTTCTGAGCAACCAACATGCCTGTGGTTTCGCTACGGTGCTCACCAGCCTGAGAACCTGTGCTTGGACGGGTGCAAAAGTGAG
GCAGACAAGTTCACAGTGAGGGAGGCCCTCAAAGAAAACCAAGTTTCCCTCACTGTAAACAGAGTGACTTCAAATGACAGTGCAATTTAC
ATCTGTGGAATAGCATTCCCCAGTGTGCCGGAAGCGAGAGCTAAACAGACAGGAGGAGGGACCACACTGGTGGTAAGAGAAATTAAGCTG
CTCAGCAAGGAACTGCGGAGCTTCCTGACAGCTCTTGTATCACTGCTCTCTGTCTATGTGACCGGTGTGTGCGTGGCCTTCATACTCCTC
TCCAAATCAAAATCCAACCCTCTAAGAAACAAAGAAATAAAAGAAGACTCACAAAAGAAGAAGAGTGCTCGGCGTATTTTTCAGGAAATT
GCTCAAGAACTATACCATAAGAGACATGTGGAAACAAATCAGCAATCTGAGAAAGATAACAACACTTATGAAAACAGAAGAGTACTTTCC
AACTATGAAAGGCCATAGAAACGTTTTAATTTTCAATGAAGTCACTGAAAATCCAACTCCAGGAGCTATGGCAGTGTTAATGAACATATA
TCATCAGGTCTTAAAAAAAAATAAAGGTAAACTGAAAAGACAACTGGCTACAAAGAAGGATGTCAGAATGTAAGGAAACTATAACTAATA

>In-frame_ENST00000389467_ENST00000268389_TCGA-CG-5718_SMG1_chr16_18908114_-_IGSF6_chr16_21658813_length(amino acids)=374AA_start in transcript=153_stop in transcript=1277
MRCGLRRNPERPSSSPALRRLLLLLLLLLLLLLGFLLSPGPERGVGGGRFGRRLALLWAAALGHVVSGKVMSRRAPGSRLSSGGGGGGTK
YPRSWNDWQPRTDSASADPDNLKYSSSRDRGGSSSYGLQPSNSAVVSRQRHDDTRVHADIQNDEKGAVGACTLSVTQPWYLEVDYTHEAV
TIKCTFSATGCPSEQPTCLWFRYGAHQPENLCLDGCKSEADKFTVREALKENQVSLTVNRVTSNDSAIYICGIAFPSVPEARAKQTGGGT
TLVVREIKLLSKELRSFLTALVSLLSVYVTGVCVAFILLSKSKSNPLRNKEIKEDSQKKKSARRIFQEIAQELYHKRHVETNQQSEKDNN

--------------------------------------------------------------
>In-frame_ENST00000446231_ENST00000268389_TCGA-CG-5718_SMG1_chr16_18908114_-_IGSF6_chr16_21658813_length(transcript)=1574nt_BP=669nt
GTGCGACAGCGGCGGCGCGGCGGGCGGAGCCGGGAGGCGGGGAAGCAGTGGCCGTGTGAGCGTGAGGAGCTGCCGCCACCGCCTGCTCCT
CGTCGTCCTCGTCCTCCGGGGCCCCGGCGACGTGGGCCGCGCACGGCCCTGGAAAAGACGTCGCCTCCCCTTCATCCGCCTCTCTCTCAC
CGCGCCGCTCCCGCCTCCTCGTCCTGCGCTGCGGGCTCAGGCGGAACCCGGAACGGCCGTCCTCTTCCCCCGCCCTCCGCCGCCTCCTCC
TTCTCCTCCTCCTCCTCCTCCTCCTCCTTCTCGGCTTCCTCCTCAGCCCCGGGCCGGAGCGGGGTGTCGGCGGCGGCCGGTTCGGGCGGC
GACTCGCGCTTCTTTGGGCGGCGGCGCTTGGCCATGTCGTGTCGGGGAAGGTAATGAGCCGCAGAGCCCCGGGGTCTCGGCTGAGCAGCG
GCGGCGGCGGCGGCGGCACCAAGTATCCGCGGAGCTGGAATGACTGGCAACCCAGAACTGATAGTGCATCAGCCGACCCAGATAATTTAA
AATATTCTTCATCCAGAGATAGAGGTGGTTCTTCCTCTTATGGACTGCAACCTTCAAATTCAGCTGTGGTGTCTCGGCAAAGGCACGATG
ATACCAGAGTCCACGCTGACATACAGAATGACGAAAAGGGTGCTGTGGGCGCCTGTACTCTCTCTGTCACACAACCGTGGTACCTAGAAG
TGGACTACACTCATGAGGCCGTCACCATAAAGTGTACCTTCTCCGCAACCGGATGCCCTTCTGAGCAACCAACATGCCTGTGGTTTCGCT
ACGGTGCTCACCAGCCTGAGAACCTGTGCTTGGACGGGTGCAAAAGTGAGGCAGACAAGTTCACAGTGAGGGAGGCCCTCAAAGAAAACC
AAGTTTCCCTCACTGTAAACAGAGTGACTTCAAATGACAGTGCAATTTACATCTGTGGAATAGCATTCCCCAGTGTGCCGGAAGCGAGAG
CTAAACAGACAGGAGGAGGGACCACACTGGTGGTAAGAGAAATTAAGCTGCTCAGCAAGGAACTGCGGAGCTTCCTGACAGCTCTTGTAT
CACTGCTCTCTGTCTATGTGACCGGTGTGTGCGTGGCCTTCATACTCCTCTCCAAATCAAAATCCAACCCTCTAAGAAACAAAGAAATAA
AAGAAGACTCACAAAAGAAGAAGAGTGCTCGGCGTATTTTTCAGGAAATTGCTCAAGAACTATACCATAAGAGACATGTGGAAACAAATC
AGCAATCTGAGAAAGATAACAACACTTATGAAAACAGAAGAGTACTTTCCAACTATGAAAGGCCATAGAAACGTTTTAATTTTCAATGAA
GTCACTGAAAATCCAACTCCAGGAGCTATGGCAGTGTTAATGAACATATATCATCAGGTCTTAAAAAAAAATAAAGGTAAACTGAAAAGA
CAACTGGCTACAAAGAAGGATGTCAGAATGTAAGGAAACTATAACTAATAGTCATTACCAAAATACTAAAACCCAACAAAATGCAACTGA

>In-frame_ENST00000446231_ENST00000268389_TCGA-CG-5718_SMG1_chr16_18908114_-_IGSF6_chr16_21658813_length(amino acids)=374AA_start in transcript=203_stop in transcript=1327
MRCGLRRNPERPSSSPALRRLLLLLLLLLLLLLGFLLSPGPERGVGGGRFGRRLALLWAAALGHVVSGKVMSRRAPGSRLSSGGGGGGTK
YPRSWNDWQPRTDSASADPDNLKYSSSRDRGGSSSYGLQPSNSAVVSRQRHDDTRVHADIQNDEKGAVGACTLSVTQPWYLEVDYTHEAV
TIKCTFSATGCPSEQPTCLWFRYGAHQPENLCLDGCKSEADKFTVREALKENQVSLTVNRVTSNDSAIYICGIAFPSVPEARAKQTGGGT
TLVVREIKLLSKELRSFLTALVSLLSVYVTGVCVAFILLSKSKSNPLRNKEIKEDSQKKKSARRIFQEIAQELYHKRHVETNQQSEKDNN

--------------------------------------------------------------
>In-frame_ENST00000565224_ENST00000268389_TCGA-CG-5718_SMG1_chr16_18908114_-_IGSF6_chr16_21658813_length(transcript)=1127nt_BP=222nt
ATTGACTTGATGCAAAACATCACAAAGGCTCCATATTATACAGTATGCGATTTTTGAGAACTGATAGTGCATCAGCCGACCCAGATAATT
TAAAATATTCTTCATCCAGAGATAGAGGTGGTTCTTCCTCTTATGGACTGCAACCTTCAAATTCAGCTGTGGTGTCTCGGCAAAGGCACG
ATGATACCAGAGTCCACGCTGACATACAGAATGACGAAAAGGGTGCTGTGGGCGCCTGTACTCTCTCTGTCACACAACCGTGGTACCTAG
AAGTGGACTACACTCATGAGGCCGTCACCATAAAGTGTACCTTCTCCGCAACCGGATGCCCTTCTGAGCAACCAACATGCCTGTGGTTTC
GCTACGGTGCTCACCAGCCTGAGAACCTGTGCTTGGACGGGTGCAAAAGTGAGGCAGACAAGTTCACAGTGAGGGAGGCCCTCAAAGAAA
ACCAAGTTTCCCTCACTGTAAACAGAGTGACTTCAAATGACAGTGCAATTTACATCTGTGGAATAGCATTCCCCAGTGTGCCGGAAGCGA
GAGCTAAACAGACAGGAGGAGGGACCACACTGGTGGTAAGAGAAATTAAGCTGCTCAGCAAGGAACTGCGGAGCTTCCTGACAGCTCTTG
TATCACTGCTCTCTGTCTATGTGACCGGTGTGTGCGTGGCCTTCATACTCCTCTCCAAATCAAAATCCAACCCTCTAAGAAACAAAGAAA
TAAAAGAAGACTCACAAAAGAAGAAGAGTGCTCGGCGTATTTTTCAGGAAATTGCTCAAGAACTATACCATAAGAGACATGTGGAAACAA
ATCAGCAATCTGAGAAAGATAACAACACTTATGAAAACAGAAGAGTACTTTCCAACTATGAAAGGCCATAGAAACGTTTTAATTTTCAAT
GAAGTCACTGAAAATCCAACTCCAGGAGCTATGGCAGTGTTAATGAACATATATCATCAGGTCTTAAAAAAAAATAAAGGTAAACTGAAA
AGACAACTGGCTACAAAGAAGGATGTCAGAATGTAAGGAAACTATAACTAATAGTCATTACCAAAATACTAAAACCCAACAAAATGCAAC

>In-frame_ENST00000565224_ENST00000268389_TCGA-CG-5718_SMG1_chr16_18908114_-_IGSF6_chr16_21658813_length(amino acids)=278AA_start in transcript=44_stop in transcript=880
MRFLRTDSASADPDNLKYSSSRDRGGSSSYGLQPSNSAVVSRQRHDDTRVHADIQNDEKGAVGACTLSVTQPWYLEVDYTHEAVTIKCTF
SATGCPSEQPTCLWFRYGAHQPENLCLDGCKSEADKFTVREALKENQVSLTVNRVTSNDSAIYICGIAFPSVPEARAKQTGGGTTLVVRE
IKLLSKELRSFLTALVSLLSVYVTGVCVAFILLSKSKSNPLRNKEIKEDSQKKKSARRIFQEIAQELYHKRHVETNQQSEKDNNTYENRR

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Fusion Gene PPI Analysis for SMG1-IGSF6


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


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
HgeneSMG1chr16:18908114chr16:21658813ENST00000446231-2631_197785.333333333333333662.0SMG8 and SMG9


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


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Related Drugs for SMG1-IGSF6


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for SMG1-IGSF6


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneIGSF6C0023893Liver Cirrhosis, Experimental1CTD_human
TgeneIGSF6C0162820Dermatitis, Allergic Contact1CTD_human