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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: 19901

FusionGeneSummary for LMNA_PTN

check button Fusion gene summary
Fusion gene informationFusion gene name: LMNA_PTN
Fusion gene ID: 19901
HgeneTgene
Gene symbol

LMNA

PTN

Gene ID

4000

5764

Gene namelamin A/Cpleiotrophin
SynonymsCDCD1|CDDC|CMD1A|CMT2B1|EMD2|FPL|FPLD|FPLD2|HGPS|IDC|LDP1|LFP|LGMD1B|LMN1|LMNC|LMNL1|MADA|PRO1HARP|HB-GAM|HBBM|HBGF-8|HBGF8|HBNF|HBNF-1|NEGF1|OSF-1
Cytomap

1q22

7q33

Type of geneprotein-codingprotein-coding
Descriptionlamin70 kDa laminlamin A/C-like 1mandibuloacral dysplasia type Aprelamin-A/Crenal carcinoma antigen NY-REN-32pleiotrophinheparin affin regulatory proteinheparin-binding brain mitogenheparin-binding growth factor 8heparin-binding growth-associated moleculeheparin-binding neurite outgrowth promoting factorheparin-binding neurite outgrowth-promoting factor 1
Modification date2018052320180523
UniProtAcc

P02545

P21246

Ensembl transtripts involved in fusion geneENST00000368301, ENST00000361308, 
ENST00000347559, ENST00000368300, 
ENST00000368299, ENST00000448611, 
ENST00000368297, ENST00000473598, 
ENST00000392353, ENST00000496738, 
ENST00000348225, ENST00000393083, 
Fusion gene scores* DoF score11 X 12 X 6=7926 X 2 X 5=60
# samples 146
** MAII scorelog2(14/792*10)=-2.50007360313464
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/60*10)=0
Context

PubMed: LMNA [Title/Abstract] AND PTN [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
HgeneLMNA

GO:0090343

positive regulation of cell aging

20458013

TgenePTN

GO:0008284

positive regulation of cell proliferation

1733956


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-A3XU-01ALMNAchr1

156107656

+PTNchr7

136938384

-
* 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
Frame-shitENST00000368301ENST00000348225LMNAchr1

156107656

+PTNchr7

136938384

-
Frame-shitENST00000368301ENST00000393083LMNAchr1

156107656

+PTNchr7

136938384

-
Frame-shitENST00000361308ENST00000348225LMNAchr1

156107656

+PTNchr7

136938384

-
Frame-shitENST00000361308ENST00000393083LMNAchr1

156107656

+PTNchr7

136938384

-
intron-3CDSENST00000347559ENST00000348225LMNAchr1

156107656

+PTNchr7

136938384

-
intron-3CDSENST00000347559ENST00000393083LMNAchr1

156107656

+PTNchr7

136938384

-
intron-3CDSENST00000368300ENST00000348225LMNAchr1

156107656

+PTNchr7

136938384

-
intron-3CDSENST00000368300ENST00000393083LMNAchr1

156107656

+PTNchr7

136938384

-
intron-3CDSENST00000368299ENST00000348225LMNAchr1

156107656

+PTNchr7

136938384

-
intron-3CDSENST00000368299ENST00000393083LMNAchr1

156107656

+PTNchr7

136938384

-
intron-3CDSENST00000448611ENST00000348225LMNAchr1

156107656

+PTNchr7

136938384

-
intron-3CDSENST00000448611ENST00000393083LMNAchr1

156107656

+PTNchr7

136938384

-
Frame-shitENST00000368297ENST00000348225LMNAchr1

156107656

+PTNchr7

136938384

-
Frame-shitENST00000368297ENST00000393083LMNAchr1

156107656

+PTNchr7

136938384

-
intron-3CDSENST00000473598ENST00000348225LMNAchr1

156107656

+PTNchr7

136938384

-
intron-3CDSENST00000473598ENST00000393083LMNAchr1

156107656

+PTNchr7

136938384

-
Frame-shitENST00000392353ENST00000348225LMNAchr1

156107656

+PTNchr7

136938384

-
Frame-shitENST00000392353ENST00000393083LMNAchr1

156107656

+PTNchr7

136938384

-
3UTR-3CDSENST00000496738ENST00000348225LMNAchr1

156107656

+PTNchr7

136938384

-
3UTR-3CDSENST00000496738ENST00000393083LMNAchr1

156107656

+PTNchr7

136938384

-

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FusionProtFeatures for LMNA_PTN


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

P02545

PTN

P21246

Secreted growth factor that induces neurite outgrowthand which is mitogenic for fibroblasts, epithelial, andendothelial cells (PubMed:1768439, PubMed:1733956). Bindsanaplastic lymphoma kinase (ALK) which induces MAPK pathwayactivation, an important step in the anti-apoptotic signaling ofPTN and regulation of cell proliferation (PubMed:11278720). Bindsto cell-surface target proteins via their chondroitin sulfategroups (PubMed:26896299). Down-regulates PTPRZ1 activity(PubMed:16814777). {ECO:0000269|PubMed:11278720,ECO:0000269|PubMed:16814777, ECO:0000269|PubMed:1768439,ECO:0000269|PubMed:26896299}.

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 LMNA_PTN


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 LMNA_PTN


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
LMNALMNB1, SREBF1, NARF, EMD, KAT5, TMPO, ZNF239, SYNE1, RB1, ALOX12, PRKCA, TOR1A, TOR1AIP1, FYCO1, BANF1, RBBP4, ING1, CTNNB1, SRRM1, SRRM2, MORF4L1, MORF4L2, MRGBP, H2AFX, MYC, UCHL5, YWHAQ, MME, CTCF, SVIL, PRKDC, STAC, SIRT7, ISG15, PPP1CC, CDK2, PCBP1, EGF, LMNA, UBE2I, PCGF2, MRPS26, FLNA, UNC13D, SF3B3, WDR18, HNRNPM, SLC25A6, PMS2, SLC25A5, NONO, GZMB, GZMA, VCP, MLIP, FN1, VCAM1, CDH1, ITGA4, URB2, PHB, LEMD3, FAM169A, LBR, TMEM201, NUMA1, ANLN, LMNB2, NUP153, NUP50, AHCTF1, POM121, TPR, NUP98, NUP155, RANBP2, NUP133, RANGAP1, MCM3AP, NUP214, HIST1H4G, SAP30BP, SCML2, HP1BP3, ZBTB33, TOX4, TRIM28, FHL1, NELFE, ZNF280C, H2AFY, GTF2A1, BAZ1B, ORC2, GTF2F2, CHD8, SUPT5H, RUVBL1, SMARCA5, PML, TOP2A, MTDH, THRAP3, CXorf56, TAGLN2, TMEM230, ARPIN, C9orf78, PDAP1, CCDC47, DNAJC1, WDR70, RNF113A, YKT6, VRK2, CISD2, CTTN, LRRC59, CD2AP, EIF5, PCMT1, SRPRB, ACE, ALDH3A2, PDLIM3, FASN, CDKAL1, HNRNPA1, DDX46, HNRNPA0, DDX42, SUGP1, HNRNPA2B1, PAPOLA, RBM10, FUS, GPATCH1, SF1, U2SURP, DGCR14, HNRNPR, TFIP11, DDX3X, PPM1G, CPSF6, PDCD5, PCNP, TPX2, WWOX, MKI67, MASTL, HCFC1, CRK, SDCBP, PGRMC2, CRKL, HN1L, GPKOW, FAM192A, NPLOC4, PARP1, MRE11A, MDC1, XRCC6, RIF1, BRIP1, TIPRL, UBE2M, SENP1, USP15, SENP6, NCL, GNL2, CDK16, FBXO6, PARK2, KCTD12, KIAA0196, KPNA6, EEF1D, GMPPB, PSMD10, ZW10, ROCK2, TP53, RAPGEF2, DUSP13, KRTAP10-7, KRTAP10-3, ENO1, SHMT2, MOV10, NXF1, C17orf49, CUL7, OBSL1, CCDC8, EED, SIRT6, ILK, IRAK1, LIMK2, MAST3, ABCE1, USP7, DYNLT1, RPA1, NTRK1, SCARNA22, ANKRA2, RFXANK, STX5, HERC2, SRPK2, CLK1, CC2D2A, HIST1H3E, PPME1, MCM2, MCM5, SNW1, CDC5L, SMURF1, BMI1, CA5A, EGFR, SUN2, CYLD, SPTA1, EIF2AK2, DLST, PDHA1, SDHA, SOD1, TRIM25, G3BP1, ANXA6, APOA2, APOD, AQP1, AQP3, ASGR1, ATP6V0C, BCL2L2, BNIP2, BNIP3, BNIP3L, BYSL, C5, CACNG1, CCNG1, MS4A1, SCARB2, ENTPD3, CD72, CD81, CD52, CETN3, CLCN7, COL8A2, CRY2, CYB561, F2RL1, FCER1A, FCER1G, FDFT1, GALNT2, GJB2, GJB5, GPR25, GRM2, HCK, HMOX1, HMOX2, IFIT2, IGFBP5, ITGAM, KCNK1, KPNA1, KPNA3, KPNA4, KRT6A, LAMB1, LCP2, SMAD1, MAL, MEOX1, MFAP1, MGST3, MIP, MUTYH, NAB2, NEU1, NINJ2, NKG7, SERPINE1, PCNA, PIK3R2, PKD2, FXYD3, PLP1, PLP2, PMP22, PNLIPRP1, CTSA, PRNP, PTPN9, RHAG, RTN1, SFTPC, SIAH1, SLC1A1, SLC2A5, SLC7A1, SLN, SPN, STX3, STX4, VAMP1, VAMP2, SYPL1, TAP1, TCEA2, TCEB3, TDO2, TFRC, THBD, TSPAN7, TNF, UPK1B, ZNF3, ZNF69, ZNF138, TRIM26, SLC30A2, SLC30A3, MALL, STX7, CHST1, AOC3, EIF3G, VAMP4, TNFSF12, CDS2, TNFRSF10C, TMEM11, NAT8, PIAS2, CLDN10, USP2, SYNGR1, PTPLA, ZMYM6, VAMP3, ITM2B, STX8, CXCL14, SEC22B, GOSR2, ZSCAN12, RANBP9, TSPAN2, LINC01587, ALG3, STX6, RTN3, ABCA9, BTN2A2, WFDC2, FAM3C, CREB3, VTI1B, SLC35A1, RABAC1, SLU7, SLMO1, VAMP5, MTHFD2, FAXDC2, USP20, STARD3, MAPRE2, CYB561D2, C14orf1, PNKP, ACOT7, MGLL, CLCA4, SACM1L, ARL6IP1, LEPROTL1, LPAR3, STX12, APOL2, IFFO1, UNC50, LRP10, OSTF1, SEC22A, FETUB, LAT, SERP1, ARHGEF16, TMEM14A, TMEM208, EMR2, CLEC4A, DERL2, GOLT1B, PLLP, SBDS, INSIG2, CLEC1A, SPG21, AIG1, SCARA3, TMEM14C, FXYD6, C11orf24, SMIM11, YIPF1, GIN1, PAQR5, CLN6, PARPBP, TMEM51, WDYHV1, FAIM, SLC38A7, TMEM140, CSGALNACT2, DDX43, UBE2Q1, LIMS2, USE1, DBNDD2, UNC45A, TMEM234, RPRM, TMPRSS4, TRIM39, KCNK13, GPR108, DUS3L, SMCO4, DDX24, AGTRAP, RTN4, NIPAL3, ZNF490, CXCL16, SELK, SENP2, TNMD, EDDM3B, LMBR1, RGS18, C5orf28, SPANXD, SPANXC, C16orf58, SLC13A3, VKORC1, ALG8, TMEM109, DERL1, FA2H, TMEM243, TMEM43, C17orf62, C3orf52, ZC2HC1C, TM4SF20, CYBRD1, GOLGA2P10, ADAM33, TSGA10, CYB5B, CFHR5, VMP1, TMEM14B, MARVELD1, TMEM222, SLC41A2, FAM161A, DNAJC30, TMEM107, JAGN1, PERM1, GPR128, SLC35B4, MFSD5, COX14, TMEM128, TMEM60, AQP10, FATE1, CCDC120, TMEM41A, ZNF439, MYADM, REEP6, SYCE1, ORMDL1, ORMDL3, TMEM203, CMTM7, KIF12, TMEM54, SLC35A4, OSBPL8, C1QTNF1, CMTM5, CMTM3, CLDND2, ZNF440, IZUMO2, C20orf141, TMEM42, TRAM1L1, DEFB127, UBQLNL, CWF19L2, TMEM86A, TMEM120B, TMEM199, CCDC155, ZNF569, SYT6, CNIH3, RMDN2, SH3RF2, TMEM65, TMEM74, ZDHHC15, SGMS2, SLC30A8, TCEANC, FAM9B, PPAPDC1A, OSTCP1, TSNARE1, AQPEP, ZNF25, TMEM218, MMD2, LHFPL5, ZDHHC24, NALCN, BRICD5, VSTM1, YIPF6, TSPAN33, STAC2, SLC35B2, SFT2D2, SERP2, C2orf82, C4orf3, CENPP, ANKRD20A5P, BRCA1, EFTUD2, LUC7L3, NPM1, PRPF19, RNPS1, SRSF1, SRSF3, SRSF4, TRA2B, ALYREF, U2AF2, MYO1C, DKC1, FBL, GAR1, NHP2, NOP58, SFPQ, MATR3, HNRNPU, HIST1H1A, HIST1H1B, HIST1H1C, HIST1H2BB, HIST1H3A, HIST2H2AB, HIST1H4H, H2AFZ, TTN, DDX23, DDX5, DHX15, HNRNPA1L2, HNRNPA3, HNRNPC, HNRNPH1, HNRNPK, PRPF6, RALY, SF3B1, SNRNP40, SNRPD1, SNRPD2, SNRPD3, YBX1, ACIN1, DDX18, DDX21, ILF2, ILF3, MYBBP1A, NOP2, NOP56, RPF2, RPL5, RPL6, RPL11, RPS3A, RPS6, RPS7, RPS25, RSL1D1, SRSF5, SRSF9, TOP1, UBTF, CD2BP2, CSNK2A1, ELAVL1, HNRNPL, PHB2, RPS2, SAP18, SSRP1, URI1, TP53BP1PTNAPOBEC3G, CGA, DFNA5, HSPBAP1, TAF1D, MKKS, PLXNB2, SUPT7L, WFDC2, ATRX, BMI1, BTBD2, CAAP1, CACNB4, CDH10, CDK5RAP2, COX6C, DUSP12, EVA1A, FTL, BLOC1S1, GLYAT, GTF2F1, ITSN2, MLLT3, MYCBP, NAP1L5, CRCT1, PMF1, PSMB10, RIT1, RBM23, SNCAIP, STC2, TAC3, TBRG4, TXNDC9, ARL15, ATP5C1, CAPZB, CCDC53, CRELD1, DNAJB11, EIF3F, SLC25A36, GPD1, GSTP1, LAMA4, LUC7L2, MAD2L1BP, P4HB, UTP3, SAT1, SSR1, TP53BP2, ARIH2, GIPC2, GNB2L1, HGH1, PPP2CA, PSMD11, PTPRS, RPLP1, SGSM2, TOMM20, UBQLN4, PSMD2, CHD3, SGTA, BCCIP, ALK, PTPRZ1, CTNNB1, NUDT21, GSK3B, MRPL44, C7orf25, BCL2L1, PFDN1, GADD45A, C11orf58, BARD1, KPNB1, GADD45G, FEZ1, PTN, PIAS4, GPRASP2, BAG6, TSC22D1, CYP2E1, UBQLN1, NEK6, PTPRB


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 LMNA_PTN


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 LMNA_PTN


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneLMNAC0410190Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)19ORPHANET;UNIPROT
HgeneLMNAC1449563Cardiomyopathy, Familial Idiopathic17ORPHANET;UNIPROT
HgeneLMNAC0033300Progeria14CTD_human;ORPHANET;UNIPROT
HgeneLMNAC1720860Familial Partial Lipodystrophy, Type 210ORPHANET;UNIPROT
HgeneLMNAC1834653MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder)7CTD_human;ORPHANET;UNIPROT
HgeneLMNAC0432291Mandibuloacral dysostosis5CTD_human;ORPHANET;UNIPROT
HgeneLMNAC0271694Familial partial lipodystrophy4CTD_human
HgeneLMNAC0007193Cardiomyopathy, Dilated3CTD_human;HPO
HgeneLMNAC0796031Malouf syndrome3ORPHANET;UNIPROT
HgeneLMNAC2750035Emery-Dreifuss Muscular Dystrophy 32UNIPROT
HgeneLMNAC2750785MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder)2CTD_human;ORPHANET;UNIPROT
HgeneLMNAC0016508Congenital Foot Deformity1CTD_human
HgeneLMNAC0018566Congenital Hand Deformities1CTD_human
HgeneLMNAC0018794Heart Block1CTD_human
HgeneLMNAC0032460Polycystic Ovary Syndrome1CTD_human;HPO
HgeneLMNAC0036420Localized scleroderma1CTD_human
HgeneLMNAC0037188Sinoatrial Block1CTD_human
HgeneLMNAC0042514Tachycardia, Ventricular1CTD_human
HgeneLMNAC0085298Sudden Cardiac Death1CTD_human;HPO
HgeneLMNAC0152013Adenocarcinoma of lung (disorder)1CTD_human
HgeneLMNAC0376634Craniofacial Abnormalities1CTD_human
HgeneLMNAC0410189Muscular Dystrophy, Emery-Dreifuss1CTD_human
HgeneLMNAC0686353Muscular Dystrophies, Limb-Girdle1CTD_human;HPO
HgeneLMNAC1136321HIV-Associated Lipodystrophy Syndrome1CTD_human
HgeneLMNAC1854154Charcot-Marie-Tooth disease, Type 2B11CTD_human;ORPHANET;UNIPROT
TgenePTNC0023893Liver Cirrhosis, Experimental1CTD_human
TgenePTNC0024667Animal Mammary Neoplasms1CTD_human
TgenePTNC0024668Mammary Neoplasms, Experimental1CTD_human