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: 19903

FusionGeneSummary for LMNA_RCAN2

check button Fusion gene summary
Fusion gene informationFusion gene name: LMNA_RCAN2
Fusion gene ID: 19903
HgeneTgene
Gene symbol

LMNA

RCAN2

Gene ID

4000

10231

Gene namelamin A/Cregulator of calcineurin 2
SynonymsCDCD1|CDDC|CMD1A|CMT2B1|EMD2|FPL|FPLD|FPLD2|HGPS|IDC|LDP1|LFP|LGMD1B|LMN1|LMNC|LMNL1|MADA|PRO1CSP2|DSCR1L1|MCIP2|RCN2|ZAKI-4|ZAKI4
Cytomap

1q22

6p12.3

Type of geneprotein-codingprotein-coding
Descriptionlamin70 kDa laminlamin A/C-like 1mandibuloacral dysplasia type Aprelamin-A/Crenal carcinoma antigen NY-REN-32calcipressin-2Down syndrome candidate region 1-like 1Down syndrome critical region gene 1-like 1myocyte-enriched calcineurin-interacting protein 2thyroid hormone-responsive (skin fibroblasts)thyroid hormone-responsive protein ZAKI-4
Modification date2018052320180523
UniProtAcc

P02545

Q14206

Ensembl transtripts involved in fusion geneENST00000368301, ENST00000361308, 
ENST00000347559, ENST00000368300, 
ENST00000368299, ENST00000448611, 
ENST00000368297, ENST00000473598, 
ENST00000392353, ENST00000496738, 
ENST00000330430, ENST00000371374, 
ENST00000306764, ENST00000405162, 
Fusion gene scores* DoF score11 X 12 X 6=7928 X 6 X 5=240
# samples 1412
** MAII scorelog2(14/792*10)=-2.50007360313464
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(12/240*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: LMNA [Title/Abstract] AND RCAN2 [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


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
ChiTaRS3.1CD244832LMNAchr1

156109872

+RCAN2chr6

46231461

+
* 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
intron-intronENST00000368301ENST00000330430LMNAchr1

156109872

+RCAN2chr6

46231461

+
intron-intronENST00000368301ENST00000371374LMNAchr1

156109872

+RCAN2chr6

46231461

+
intron-intronENST00000368301ENST00000306764LMNAchr1

156109872

+RCAN2chr6

46231461

+
intron-intronENST00000368301ENST00000405162LMNAchr1

156109872

+RCAN2chr6

46231461

+
intron-intronENST00000361308ENST00000330430LMNAchr1

156109872

+RCAN2chr6

46231461

+
intron-intronENST00000361308ENST00000371374LMNAchr1

156109872

+RCAN2chr6

46231461

+
intron-intronENST00000361308ENST00000306764LMNAchr1

156109872

+RCAN2chr6

46231461

+
intron-intronENST00000361308ENST00000405162LMNAchr1

156109872

+RCAN2chr6

46231461

+
5CDS-intronENST00000347559ENST00000330430LMNAchr1

156109872

+RCAN2chr6

46231461

+
5CDS-intronENST00000347559ENST00000371374LMNAchr1

156109872

+RCAN2chr6

46231461

+
5CDS-intronENST00000347559ENST00000306764LMNAchr1

156109872

+RCAN2chr6

46231461

+
5CDS-intronENST00000347559ENST00000405162LMNAchr1

156109872

+RCAN2chr6

46231461

+
3UTR-intronENST00000368300ENST00000330430LMNAchr1

156109872

+RCAN2chr6

46231461

+
3UTR-intronENST00000368300ENST00000371374LMNAchr1

156109872

+RCAN2chr6

46231461

+
3UTR-intronENST00000368300ENST00000306764LMNAchr1

156109872

+RCAN2chr6

46231461

+
3UTR-intronENST00000368300ENST00000405162LMNAchr1

156109872

+RCAN2chr6

46231461

+
intron-intronENST00000368299ENST00000330430LMNAchr1

156109872

+RCAN2chr6

46231461

+
intron-intronENST00000368299ENST00000371374LMNAchr1

156109872

+RCAN2chr6

46231461

+
intron-intronENST00000368299ENST00000306764LMNAchr1

156109872

+RCAN2chr6

46231461

+
intron-intronENST00000368299ENST00000405162LMNAchr1

156109872

+RCAN2chr6

46231461

+
intron-intronENST00000448611ENST00000330430LMNAchr1

156109872

+RCAN2chr6

46231461

+
intron-intronENST00000448611ENST00000371374LMNAchr1

156109872

+RCAN2chr6

46231461

+
intron-intronENST00000448611ENST00000306764LMNAchr1

156109872

+RCAN2chr6

46231461

+
intron-intronENST00000448611ENST00000405162LMNAchr1

156109872

+RCAN2chr6

46231461

+
intron-intronENST00000368297ENST00000330430LMNAchr1

156109872

+RCAN2chr6

46231461

+
intron-intronENST00000368297ENST00000371374LMNAchr1

156109872

+RCAN2chr6

46231461

+
intron-intronENST00000368297ENST00000306764LMNAchr1

156109872

+RCAN2chr6

46231461

+
intron-intronENST00000368297ENST00000405162LMNAchr1

156109872

+RCAN2chr6

46231461

+
intron-intronENST00000473598ENST00000330430LMNAchr1

156109872

+RCAN2chr6

46231461

+
intron-intronENST00000473598ENST00000371374LMNAchr1

156109872

+RCAN2chr6

46231461

+
intron-intronENST00000473598ENST00000306764LMNAchr1

156109872

+RCAN2chr6

46231461

+
intron-intronENST00000473598ENST00000405162LMNAchr1

156109872

+RCAN2chr6

46231461

+
intron-intronENST00000392353ENST00000330430LMNAchr1

156109872

+RCAN2chr6

46231461

+
intron-intronENST00000392353ENST00000371374LMNAchr1

156109872

+RCAN2chr6

46231461

+
intron-intronENST00000392353ENST00000306764LMNAchr1

156109872

+RCAN2chr6

46231461

+
intron-intronENST00000392353ENST00000405162LMNAchr1

156109872

+RCAN2chr6

46231461

+
intron-intronENST00000496738ENST00000330430LMNAchr1

156109872

+RCAN2chr6

46231461

+
intron-intronENST00000496738ENST00000371374LMNAchr1

156109872

+RCAN2chr6

46231461

+
intron-intronENST00000496738ENST00000306764LMNAchr1

156109872

+RCAN2chr6

46231461

+
intron-intronENST00000496738ENST00000405162LMNAchr1

156109872

+RCAN2chr6

46231461

+

Top

FusionProtFeatures for LMNA_RCAN2


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

P02545

RCAN2

Q14206

Inhibits calcineurin-dependent transcriptional responsesby binding to the catalytic domain of calcineurin A. Could play arole during central nervous system development.

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 LMNA_RCAN2


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 LMNA_RCAN2


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


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


Top

RelatedDrugs for LMNA_RCAN2


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 LMNA_RCAN2


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