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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: 19589

FusionGeneSummary for LDLR_CCDC130

check button Fusion gene summary
Fusion gene informationFusion gene name: LDLR_CCDC130
Fusion gene ID: 19589
HgeneTgene
Gene symbol

LDLR

CCDC130

Gene ID

3949

81576

Gene namelow density lipoprotein receptorcoiled-coil domain containing 130
SynonymsFH|FHC|LDLCQ2-
Cytomap

19p13.2

19p13.13

Type of geneprotein-codingprotein-coding
Descriptionlow-density lipoprotein receptorLDL receptorlow-density lipoprotein receptor class A domain-containing protein 3coiled-coil domain-containing protein 1309 kDa protein
Modification date2018052020180519
UniProtAcc

P01130

P13994

Ensembl transtripts involved in fusion geneENST00000558518, ENST00000557933, 
ENST00000455727, ENST00000535915, 
ENST00000545707, ENST00000558013, 
ENST00000560628, 
ENST00000586600, 
ENST00000221554, ENST00000587019, 
Fusion gene scores* DoF score14 X 9 X 11=13866 X 5 X 7=210
# samples 177
** MAII scorelog2(17/1386*10)=-3.02732060599951
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(7/210*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: LDLR [Title/Abstract] AND CCDC130 [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
TCGARVACCTCGA-OR-A5K5-01ALDLRchr19

11200291

+CCDC130chr19

13842989

+
* 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-5UTRENST00000558518ENST00000586600LDLRchr19

11200291

+CCDC130chr19

13842989

+
5CDS-intronENST00000558518ENST00000221554LDLRchr19

11200291

+CCDC130chr19

13842989

+
5CDS-intronENST00000558518ENST00000587019LDLRchr19

11200291

+CCDC130chr19

13842989

+
5CDS-5UTRENST00000557933ENST00000586600LDLRchr19

11200291

+CCDC130chr19

13842989

+
5CDS-intronENST00000557933ENST00000221554LDLRchr19

11200291

+CCDC130chr19

13842989

+
5CDS-intronENST00000557933ENST00000587019LDLRchr19

11200291

+CCDC130chr19

13842989

+
5CDS-5UTRENST00000455727ENST00000586600LDLRchr19

11200291

+CCDC130chr19

13842989

+
5CDS-intronENST00000455727ENST00000221554LDLRchr19

11200291

+CCDC130chr19

13842989

+
5CDS-intronENST00000455727ENST00000587019LDLRchr19

11200291

+CCDC130chr19

13842989

+
5CDS-5UTRENST00000535915ENST00000586600LDLRchr19

11200291

+CCDC130chr19

13842989

+
5CDS-intronENST00000535915ENST00000221554LDLRchr19

11200291

+CCDC130chr19

13842989

+
5CDS-intronENST00000535915ENST00000587019LDLRchr19

11200291

+CCDC130chr19

13842989

+
5CDS-5UTRENST00000545707ENST00000586600LDLRchr19

11200291

+CCDC130chr19

13842989

+
5CDS-intronENST00000545707ENST00000221554LDLRchr19

11200291

+CCDC130chr19

13842989

+
5CDS-intronENST00000545707ENST00000587019LDLRchr19

11200291

+CCDC130chr19

13842989

+
5CDS-5UTRENST00000558013ENST00000586600LDLRchr19

11200291

+CCDC130chr19

13842989

+
5CDS-intronENST00000558013ENST00000221554LDLRchr19

11200291

+CCDC130chr19

13842989

+
5CDS-intronENST00000558013ENST00000587019LDLRchr19

11200291

+CCDC130chr19

13842989

+
intron-5UTRENST00000560628ENST00000586600LDLRchr19

11200291

+CCDC130chr19

13842989

+
intron-intronENST00000560628ENST00000221554LDLRchr19

11200291

+CCDC130chr19

13842989

+
intron-intronENST00000560628ENST00000587019LDLRchr19

11200291

+CCDC130chr19

13842989

+

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FusionProtFeatures for LDLR_CCDC130


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

P01130

CCDC130

P13994


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 LDLR_CCDC130


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 LDLR_CCDC130


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
LDLRDAB1, PF4, CD36, DAB2, AP1M2, LDLRAP1, LRPAP1, SNX17, HSPA5, MYLIP, HSP90B1, PDIA4, CANX, PDIA3, CREBBP, MAP4, PCSK9, GINM1, B3GNT2, ZFP41, PRG2, CBR3, USP2, FAM19A3, FCGRT, ZNF408, PRG3, DLK2, TYW3, MGAT4C, DEFA1, UST, EGFL6, WNT7ACCDC130ZNF165, ZNF24, NINL, TRAF2, EEF1A1, ZBTB16, JUP, ZNF572, ZZEF1, UBR1, HECTD3, PPP2R2D, KDM8, SEPHS1, MINA, RCCD1, UBR2


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 LDLR_CCDC130


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneLDLRP01130DB00707Porfimer sodiumLow-density lipoprotein receptorsmall moleculeapproved|investigational

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RelatedDiseases for LDLR_CCDC130


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneLDLRC0745103Hyperlipoproteinemia Type IIa32CTD_human;ORPHANET;UNIPROT
HgeneLDLRC0020445Hypercholesterolemia, Familial6CTD_human;HPO
HgeneLDLRC0004153Atherosclerosis4CTD_human
HgeneLDLRC0020443Hypercholesterolemia4CTD_human;HPO
HgeneLDLRC0400966Non-alcoholic Fatty Liver Disease3CTD_human
HgeneLDLRC0020473Hyperlipidemia2CTD_human;HPO
HgeneLDLRC1956346Coronary Artery Disease2CTD_human
HgeneLDLRC0010068Coronary heart disease1CTD_human
HgeneLDLRC0015695Fatty Liver1CTD_human
HgeneLDLRC0020507Hyperplasia1CTD_human
HgeneLDLRC0028754Obesity1CTD_human
HgeneLDLRC0034362Q Fever1CTD_human
HgeneLDLRC0085762Alcohol abuse1PSYGENET
HgeneLDLRC0242339Dyslipidemias1CTD_human
HgeneLDLRC1862939AMYOTROPHIC LATERAL SCLEROSIS 11CTD_human