FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact
Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 7232

FusionGeneSummary for CIC_LMNA

check button Fusion gene summary
Fusion gene informationFusion gene name: CIC_LMNA
Fusion gene ID: 7232
HgeneTgene
Gene symbol

CIC

LMNA

Gene ID

23152

4000

Gene namecapicua transcriptional repressorlamin A/C
SynonymsMRD45CDCD1|CDDC|CMD1A|CMT2B1|EMD2|FPL|FPLD|FPLD2|HGPS|IDC|LDP1|LFP|LGMD1B|LMN1|LMNC|LMNL1|MADA|PRO1
Cytomap

19q13.2

1q22

Type of geneprotein-codingprotein-coding
Descriptionprotein capicua homologlamin70 kDa laminlamin A/C-like 1mandibuloacral dysplasia type Aprelamin-A/Crenal carcinoma antigen NY-REN-32
Modification date2018052320180523
UniProtAcc

Q96RK0

P02545

Ensembl transtripts involved in fusion geneENST00000572681, ENST00000575839, 
ENST00000160740, ENST00000575354, 
ENST00000368301, ENST00000361308, 
ENST00000347559, ENST00000368300, 
ENST00000368299, ENST00000448611, 
ENST00000368297, ENST00000473598, 
ENST00000392353, ENST00000496738, 
Fusion gene scores* DoF score9 X 7 X 5=3159 X 11 X 3=297
# samples 911
** MAII scorelog2(9/315*10)=-1.8073549220576
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(11/297*10)=-1.43295940727611
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CIC [Title/Abstract] AND LMNA [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
TgeneLMNA

GO:0090343

positive regulation of cell aging

20458013


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-EW-A2FR-01ACICchr19

42798456

+LMNAchr1

156084592

+
* 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
5CDS-5UTRENST00000572681ENST00000368301CICchr19

42798456

+LMNAchr1

156084592

+
5CDS-5UTRENST00000572681ENST00000361308CICchr19

42798456

+LMNAchr1

156084592

+
5CDS-5UTRENST00000572681ENST00000347559CICchr19

42798456

+LMNAchr1

156084592

+
5CDS-5UTRENST00000572681ENST00000368300CICchr19

42798456

+LMNAchr1

156084592

+
5CDS-5UTRENST00000572681ENST00000368299CICchr19

42798456

+LMNAchr1

156084592

+
5CDS-intronENST00000572681ENST00000448611CICchr19

42798456

+LMNAchr1

156084592

+
5CDS-intronENST00000572681ENST00000368297CICchr19

42798456

+LMNAchr1

156084592

+
5CDS-intronENST00000572681ENST00000473598CICchr19

42798456

+LMNAchr1

156084592

+
5CDS-intronENST00000572681ENST00000392353CICchr19

42798456

+LMNAchr1

156084592

+
5CDS-intronENST00000572681ENST00000496738CICchr19

42798456

+LMNAchr1

156084592

+
intron-5UTRENST00000575839ENST00000368301CICchr19

42798456

+LMNAchr1

156084592

+
intron-5UTRENST00000575839ENST00000361308CICchr19

42798456

+LMNAchr1

156084592

+
intron-5UTRENST00000575839ENST00000347559CICchr19

42798456

+LMNAchr1

156084592

+
intron-5UTRENST00000575839ENST00000368300CICchr19

42798456

+LMNAchr1

156084592

+
intron-5UTRENST00000575839ENST00000368299CICchr19

42798456

+LMNAchr1

156084592

+
intron-intronENST00000575839ENST00000448611CICchr19

42798456

+LMNAchr1

156084592

+
intron-intronENST00000575839ENST00000368297CICchr19

42798456

+LMNAchr1

156084592

+
intron-intronENST00000575839ENST00000473598CICchr19

42798456

+LMNAchr1

156084592

+
intron-intronENST00000575839ENST00000392353CICchr19

42798456

+LMNAchr1

156084592

+
intron-intronENST00000575839ENST00000496738CICchr19

42798456

+LMNAchr1

156084592

+
5CDS-5UTRENST00000160740ENST00000368301CICchr19

42798456

+LMNAchr1

156084592

+
5CDS-5UTRENST00000160740ENST00000361308CICchr19

42798456

+LMNAchr1

156084592

+
5CDS-5UTRENST00000160740ENST00000347559CICchr19

42798456

+LMNAchr1

156084592

+
5CDS-5UTRENST00000160740ENST00000368300CICchr19

42798456

+LMNAchr1

156084592

+
5CDS-5UTRENST00000160740ENST00000368299CICchr19

42798456

+LMNAchr1

156084592

+
5CDS-intronENST00000160740ENST00000448611CICchr19

42798456

+LMNAchr1

156084592

+
5CDS-intronENST00000160740ENST00000368297CICchr19

42798456

+LMNAchr1

156084592

+
5CDS-intronENST00000160740ENST00000473598CICchr19

42798456

+LMNAchr1

156084592

+
5CDS-intronENST00000160740ENST00000392353CICchr19

42798456

+LMNAchr1

156084592

+
5CDS-intronENST00000160740ENST00000496738CICchr19

42798456

+LMNAchr1

156084592

+
5CDS-5UTRENST00000575354ENST00000368301CICchr19

42798456

+LMNAchr1

156084592

+
5CDS-5UTRENST00000575354ENST00000361308CICchr19

42798456

+LMNAchr1

156084592

+
5CDS-5UTRENST00000575354ENST00000347559CICchr19

42798456

+LMNAchr1

156084592

+
5CDS-5UTRENST00000575354ENST00000368300CICchr19

42798456

+LMNAchr1

156084592

+
5CDS-5UTRENST00000575354ENST00000368299CICchr19

42798456

+LMNAchr1

156084592

+
5CDS-intronENST00000575354ENST00000448611CICchr19

42798456

+LMNAchr1

156084592

+
5CDS-intronENST00000575354ENST00000368297CICchr19

42798456

+LMNAchr1

156084592

+
5CDS-intronENST00000575354ENST00000473598CICchr19

42798456

+LMNAchr1

156084592

+
5CDS-intronENST00000575354ENST00000392353CICchr19

42798456

+LMNAchr1

156084592

+
5CDS-intronENST00000575354ENST00000496738CICchr19

42798456

+LMNAchr1

156084592

+

Top

FusionProtFeatures for CIC_LMNA


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

Q96RK0

LMNA

P02545

Transcriptional repressor which plays a role indevelopment of the central nervous system (CNS). In concert withATXN1 and ATXN1L, involved in brain development.{ECO:0000250|UniProtKB:Q924A2}.

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


Top

FusionGeneSequence for CIC_LMNA


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).

Top

FusionGenePPI for CIC_LMNA


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
CICNFYC, CSNK2B, PLK1, GABPB1, GTPBP3, TRIM22, ZNRD1, ATXN1, SETD2, SEC62, CENPJ, PICK1, PYCR2, NTRK1, EWSR1, FOXK2, EYA2, ZBTB18LMNALMNB1, 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, TP53BP1


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


Top

RelatedDrugs for CIC_LMNA


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

RelatedDiseases for CIC_LMNA


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCICC0027627Neoplasm Metastasis1CTD_human
HgeneCICC0087012Ataxia, Spinocerebellar1CTD_human
HgeneCICC3714756Intellectual Disability1CTD_human
TgeneLMNAC0410190Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)19ORPHANET;UNIPROT
TgeneLMNAC1449563Cardiomyopathy, Familial Idiopathic17ORPHANET;UNIPROT
TgeneLMNAC0033300Progeria14CTD_human;ORPHANET;UNIPROT
TgeneLMNAC1720860Familial Partial Lipodystrophy, Type 210ORPHANET;UNIPROT
TgeneLMNAC1834653MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder)7CTD_human;ORPHANET;UNIPROT
TgeneLMNAC0432291Mandibuloacral dysostosis5CTD_human;ORPHANET;UNIPROT
TgeneLMNAC0271694Familial partial lipodystrophy4CTD_human
TgeneLMNAC0007193Cardiomyopathy, Dilated3CTD_human;HPO
TgeneLMNAC0796031Malouf syndrome3ORPHANET;UNIPROT
TgeneLMNAC2750035Emery-Dreifuss Muscular Dystrophy 32UNIPROT
TgeneLMNAC2750785MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder)2CTD_human;ORPHANET;UNIPROT
TgeneLMNAC0016508Congenital Foot Deformity1CTD_human
TgeneLMNAC0018566Congenital Hand Deformities1CTD_human
TgeneLMNAC0018794Heart Block1CTD_human
TgeneLMNAC0032460Polycystic Ovary Syndrome1CTD_human;HPO
TgeneLMNAC0036420Localized scleroderma1CTD_human
TgeneLMNAC0037188Sinoatrial Block1CTD_human
TgeneLMNAC0042514Tachycardia, Ventricular1CTD_human
TgeneLMNAC0085298Sudden Cardiac Death1CTD_human;HPO
TgeneLMNAC0152013Adenocarcinoma of lung (disorder)1CTD_human
TgeneLMNAC0376634Craniofacial Abnormalities1CTD_human
TgeneLMNAC0410189Muscular Dystrophy, Emery-Dreifuss1CTD_human
TgeneLMNAC0686353Muscular Dystrophies, Limb-Girdle1CTD_human;HPO
TgeneLMNAC1136321HIV-Associated Lipodystrophy Syndrome1CTD_human
TgeneLMNAC1854154Charcot-Marie-Tooth disease, Type 2B11CTD_human;ORPHANET;UNIPROT