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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: 30883

FusionGeneSummary for RCOR1_LMNA

check button Fusion gene summary
Fusion gene informationFusion gene name: RCOR1_LMNA
Fusion gene ID: 30883
HgeneTgene
Gene symbol

RCOR1

LMNA

Gene ID

23186

4000

Gene nameREST corepressor 1lamin A/C
SynonymsCOREST|RCORCDCD1|CDDC|CMD1A|CMT2B1|EMD2|FPL|FPLD|FPLD2|HGPS|IDC|LDP1|LFP|LGMD1B|LMN1|LMNC|LMNL1|MADA|PRO1
Cytomap

14q32.31-q32.32

1q22

Type of geneprotein-codingprotein-coding
DescriptionREST corepressor 1lamin70 kDa laminlamin A/C-like 1mandibuloacral dysplasia type Aprelamin-A/Crenal carcinoma antigen NY-REN-32
Modification date2018052320180523
UniProtAcc

Q9UKL0

P02545

Ensembl transtripts involved in fusion geneENST00000262241, ENST00000570597, 
ENST00000368301, ENST00000361308, 
ENST00000347559, ENST00000368300, 
ENST00000368299, ENST00000448611, 
ENST00000368297, ENST00000473598, 
ENST00000392353, ENST00000496738, 
Fusion gene scores* DoF score8 X 8 X 10=6409 X 11 X 3=297
# samples 1211
** MAII scorelog2(12/640*10)=-2.41503749927884
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: RCOR1 [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
HgeneRCOR1

GO:0045892

negative regulation of transcription, DNA-templated

10449787

HgeneRCOR1

GO:0070933

histone H4 deacetylation

17555596

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
ChiTaRS3.1AW818381RCOR1chr14

103119701

+LMNAchr1

156097436

+
* 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-intronENST00000262241ENST00000368301RCOR1chr14

103119701

+LMNAchr1

156097436

+
intron-intronENST00000262241ENST00000361308RCOR1chr14

103119701

+LMNAchr1

156097436

+
intron-intronENST00000262241ENST00000347559RCOR1chr14

103119701

+LMNAchr1

156097436

+
intron-intronENST00000262241ENST00000368300RCOR1chr14

103119701

+LMNAchr1

156097436

+
intron-intronENST00000262241ENST00000368299RCOR1chr14

103119701

+LMNAchr1

156097436

+
intron-intronENST00000262241ENST00000448611RCOR1chr14

103119701

+LMNAchr1

156097436

+
intron-intronENST00000262241ENST00000368297RCOR1chr14

103119701

+LMNAchr1

156097436

+
intron-intronENST00000262241ENST00000473598RCOR1chr14

103119701

+LMNAchr1

156097436

+
intron-intronENST00000262241ENST00000392353RCOR1chr14

103119701

+LMNAchr1

156097436

+
intron-intronENST00000262241ENST00000496738RCOR1chr14

103119701

+LMNAchr1

156097436

+
intron-intronENST00000570597ENST00000368301RCOR1chr14

103119701

+LMNAchr1

156097436

+
intron-intronENST00000570597ENST00000361308RCOR1chr14

103119701

+LMNAchr1

156097436

+
intron-intronENST00000570597ENST00000347559RCOR1chr14

103119701

+LMNAchr1

156097436

+
intron-intronENST00000570597ENST00000368300RCOR1chr14

103119701

+LMNAchr1

156097436

+
intron-intronENST00000570597ENST00000368299RCOR1chr14

103119701

+LMNAchr1

156097436

+
intron-intronENST00000570597ENST00000448611RCOR1chr14

103119701

+LMNAchr1

156097436

+
intron-intronENST00000570597ENST00000368297RCOR1chr14

103119701

+LMNAchr1

156097436

+
intron-intronENST00000570597ENST00000473598RCOR1chr14

103119701

+LMNAchr1

156097436

+
intron-intronENST00000570597ENST00000392353RCOR1chr14

103119701

+LMNAchr1

156097436

+
intron-intronENST00000570597ENST00000496738RCOR1chr14

103119701

+LMNAchr1

156097436

+

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FusionProtFeatures for RCOR1_LMNA


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
RCOR1

Q9UKL0

LMNA

P02545

Essential component of the BHC complex, a corepressorcomplex that represses transcription of neuron-specific genes innon-neuronal cells. The BHC complex is recruited at RE1/NRSE sitesby REST and acts by deacetylating and demethylating specific siteson histones, thereby acting as a chromatin modifier. In the BHCcomplex, it serves as a molecular beacon for the recruitment ofmolecular machinery, including MeCP2 and SUV39H1, that imposessilencing across a chromosomal interval. Plays a central role indemethylation of Lys-4 of histone H3 by promoting demethylaseactivity of KDM1A on core histones and nucleosomal substrates. Italso protects KDM1A from the proteasome. Component of aRCOR/GFI/KDM1A/HDAC complex that suppresses, via histonedeacetylase (HDAC) recruitment, a number of genes implicated inmultilineage blood cell development and controls hematopoieticdifferentiation. {ECO:0000269|PubMed:11171972,ECO:0000269|PubMed:11516394, ECO:0000269|PubMed:12032298,ECO:0000269|PubMed:12399542, ECO:0000269|PubMed:12493763,ECO:0000269|PubMed:16079794, ECO:0000269|PubMed:16140033}.

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 RCOR1_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).

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FusionGenePPI for RCOR1_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


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 RCOR1_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

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RelatedDiseases for RCOR1_LMNA


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneRCOR1C0009375Colonic Neoplasms1CTD_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