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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: 34919

FusionGeneSummary for SMG7_LAMC2

check button Fusion gene summary
Fusion gene informationFusion gene name: SMG7_LAMC2
Fusion gene ID: 34919
HgeneTgene
Gene symbol

SMG7

LAMC2

Gene ID

9887

3918

Gene nameSMG7, nonsense mediated mRNA decay factorlaminin subunit gamma 2
SynonymsC1orf16|EST1C|SGA56MB2T|BM600|CSF|EBR2|EBR2A|LAMB2T|LAMNB2
Cytomap

1q25.3

1q25.3

Type of geneprotein-codingprotein-coding
Descriptionprotein SMG7EST1 telomerase component homolog CEST1-like protein Cbreast cancer-associated antigen SGA-56Mever shorter telomeres 1Csmg-7 homolog, nonsense mediated mRNA decay factorlaminin subunit gamma-2BM600-100kDaCSF 140 kDa subunitcell-scattering factor 140 kDa subunitepiligrin subunit gammakalinin subunit gammaladsin 140 kDa subunitlaminin B2t chainlaminin, gamma 2large adhesive scatter factor 140 kDa subunitnicein su
Modification date2018052320180522
UniProtAcc

Q92540

Q13753

Ensembl transtripts involved in fusion geneENST00000456731, ENST00000367537, 
ENST00000508461, ENST00000347615, 
ENST00000507469, ENST00000515829, 
ENST00000507406, 
ENST00000493293, 
ENST00000264144, ENST00000461729, 
Fusion gene scores* DoF score5 X 4 X 3=604 X 3 X 3=36
# samples 54
** MAII scorelog2(5/60*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/36*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: SMG7 [Title/Abstract] AND LAMC2 [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
TCGALDSTADTCGA-VQ-A8PH-01ASMG7chr1

183441784

+LAMC2chr1

183177016

+
* 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
5UTR-3CDSENST00000456731ENST00000493293SMG7chr1

183441784

+LAMC2chr1

183177016

+
5UTR-3CDSENST00000456731ENST00000264144SMG7chr1

183441784

+LAMC2chr1

183177016

+
5UTR-intronENST00000456731ENST00000461729SMG7chr1

183441784

+LAMC2chr1

183177016

+
5UTR-3CDSENST00000367537ENST00000493293SMG7chr1

183441784

+LAMC2chr1

183177016

+
5UTR-3CDSENST00000367537ENST00000264144SMG7chr1

183441784

+LAMC2chr1

183177016

+
5UTR-intronENST00000367537ENST00000461729SMG7chr1

183441784

+LAMC2chr1

183177016

+
5UTR-3CDSENST00000508461ENST00000493293SMG7chr1

183441784

+LAMC2chr1

183177016

+
5UTR-3CDSENST00000508461ENST00000264144SMG7chr1

183441784

+LAMC2chr1

183177016

+
5UTR-intronENST00000508461ENST00000461729SMG7chr1

183441784

+LAMC2chr1

183177016

+
Frame-shiftENST00000347615ENST00000493293SMG7chr1

183441784

+LAMC2chr1

183177016

+
Frame-shiftENST00000347615ENST00000264144SMG7chr1

183441784

+LAMC2chr1

183177016

+
5CDS-intronENST00000347615ENST00000461729SMG7chr1

183441784

+LAMC2chr1

183177016

+
Frame-shiftENST00000507469ENST00000493293SMG7chr1

183441784

+LAMC2chr1

183177016

+
Frame-shiftENST00000507469ENST00000264144SMG7chr1

183441784

+LAMC2chr1

183177016

+
5CDS-intronENST00000507469ENST00000461729SMG7chr1

183441784

+LAMC2chr1

183177016

+
Frame-shiftENST00000515829ENST00000493293SMG7chr1

183441784

+LAMC2chr1

183177016

+
Frame-shiftENST00000515829ENST00000264144SMG7chr1

183441784

+LAMC2chr1

183177016

+
5CDS-intronENST00000515829ENST00000461729SMG7chr1

183441784

+LAMC2chr1

183177016

+
intron-3CDSENST00000507406ENST00000493293SMG7chr1

183441784

+LAMC2chr1

183177016

+
intron-3CDSENST00000507406ENST00000264144SMG7chr1

183441784

+LAMC2chr1

183177016

+
intron-intronENST00000507406ENST00000461729SMG7chr1

183441784

+LAMC2chr1

183177016

+

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FusionProtFeatures for SMG7_LAMC2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SMG7

Q92540

LAMC2

Q13753

Binding to cells via a high affinity receptor, lamininis thought to mediate the attachment, migration and organizationof cells into tissues during embryonic development by interactingwith other extracellular matrix components. Ladsin exerts cell-scattering activity toward a wide variety of cells, includingepithelial, endothelial, and fibroblastic cells.{ECO:0000269|PubMed:8265624}.

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


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FusionGeneSequence for SMG7_LAMC2


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.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for SMG7_LAMC2


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
SMG7FGFR3, ELAVL1, UPF1, HBB, SMG1, RBM8A, SMG6, KLK15, TSNAX, PRMT6, FBXW11, BTRC, SSX2IP, PCM1, CEP97, CEP152, SPICE1, CEP128, CEP44, NINL, ODF2, STIL, CENPJ, XPO1, SEC16A, TP53, MDM2, MTMR4, NPAS1, DNA2, C6orf141, CDC16, CRYL1, TRIM25LAMC2COL7A1, SLA2, PDIA3, YY1, DTNBP1


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 SMG7_LAMC2


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 SMG7_LAMC2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneLAMC2C0023890Liver Cirrhosis1CTD_human
TgeneLAMC2C0268374Adult junctional epidermolysis bullosa (disorder)1CTD_human;ORPHANET