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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: 35936

FusionGeneSummary for SREBF1_LRRC48

check button Fusion gene summary
Fusion gene informationFusion gene name: SREBF1_LRRC48
Fusion gene ID: 35936
HgeneTgene
Gene symbol

SREBF1

LRRC48

Gene ID

6720

83450

Gene namesterol regulatory element binding transcription factor 1dynein regulatory complex subunit 3
SynonymsSREBP1|bHLHd1CFAP134|LRRC48
Cytomap

17p11.2

17p11.2

Type of geneprotein-codingprotein-coding
Descriptionsterol regulatory element-binding protein 1class D basic helix-loop-helix protein 1dynein regulatory complex subunit 3leucine rich repeat containing 48leucine-rich repeat-containing protein 48
Modification date2018052220180522
UniProtAcc

P36956

Ensembl transtripts involved in fusion geneENST00000338854, ENST00000395757, 
ENST00000355815, ENST00000261646, 
ENST00000435530, ENST00000583732, 
ENST00000411504, ENST00000313838, 
ENST00000399187, ENST00000584166, 
ENST00000399182, ENST00000583995, 
Fusion gene scores* DoF score6 X 3 X 6=1083 X 2 X 3=18
# samples 63
** MAII scorelog2(6/108*10)=-0.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: SREBF1 [Title/Abstract] AND LRRC48 [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
HgeneSREBF1

GO:0045944

positive regulation of transcription by RNA polymerase II

26437365


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-AC-A2QH-01BSREBF1chr17

17740041

-LRRC48chr17

17877166

+
* 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-5UTRENST00000338854ENST00000411504SREBF1chr17

17740041

-LRRC48chr17

17877166

+
5CDS-5UTRENST00000338854ENST00000313838SREBF1chr17

17740041

-LRRC48chr17

17877166

+
5CDS-5UTRENST00000338854ENST00000399187SREBF1chr17

17740041

-LRRC48chr17

17877166

+
5CDS-5UTRENST00000338854ENST00000584166SREBF1chr17

17740041

-LRRC48chr17

17877166

+
5CDS-5UTRENST00000338854ENST00000399182SREBF1chr17

17740041

-LRRC48chr17

17877166

+
5CDS-intronENST00000338854ENST00000583995SREBF1chr17

17740041

-LRRC48chr17

17877166

+
intron-5UTRENST00000395757ENST00000411504SREBF1chr17

17740041

-LRRC48chr17

17877166

+
intron-5UTRENST00000395757ENST00000313838SREBF1chr17

17740041

-LRRC48chr17

17877166

+
intron-5UTRENST00000395757ENST00000399187SREBF1chr17

17740041

-LRRC48chr17

17877166

+
intron-5UTRENST00000395757ENST00000584166SREBF1chr17

17740041

-LRRC48chr17

17877166

+
intron-5UTRENST00000395757ENST00000399182SREBF1chr17

17740041

-LRRC48chr17

17877166

+
intron-intronENST00000395757ENST00000583995SREBF1chr17

17740041

-LRRC48chr17

17877166

+
5CDS-5UTRENST00000355815ENST00000411504SREBF1chr17

17740041

-LRRC48chr17

17877166

+
5CDS-5UTRENST00000355815ENST00000313838SREBF1chr17

17740041

-LRRC48chr17

17877166

+
5CDS-5UTRENST00000355815ENST00000399187SREBF1chr17

17740041

-LRRC48chr17

17877166

+
5CDS-5UTRENST00000355815ENST00000584166SREBF1chr17

17740041

-LRRC48chr17

17877166

+
5CDS-5UTRENST00000355815ENST00000399182SREBF1chr17

17740041

-LRRC48chr17

17877166

+
5CDS-intronENST00000355815ENST00000583995SREBF1chr17

17740041

-LRRC48chr17

17877166

+
5CDS-5UTRENST00000261646ENST00000411504SREBF1chr17

17740041

-LRRC48chr17

17877166

+
5CDS-5UTRENST00000261646ENST00000313838SREBF1chr17

17740041

-LRRC48chr17

17877166

+
5CDS-5UTRENST00000261646ENST00000399187SREBF1chr17

17740041

-LRRC48chr17

17877166

+
5CDS-5UTRENST00000261646ENST00000584166SREBF1chr17

17740041

-LRRC48chr17

17877166

+
5CDS-5UTRENST00000261646ENST00000399182SREBF1chr17

17740041

-LRRC48chr17

17877166

+
5CDS-intronENST00000261646ENST00000583995SREBF1chr17

17740041

-LRRC48chr17

17877166

+
5CDS-5UTRENST00000435530ENST00000411504SREBF1chr17

17740041

-LRRC48chr17

17877166

+
5CDS-5UTRENST00000435530ENST00000313838SREBF1chr17

17740041

-LRRC48chr17

17877166

+
5CDS-5UTRENST00000435530ENST00000399187SREBF1chr17

17740041

-LRRC48chr17

17877166

+
5CDS-5UTRENST00000435530ENST00000584166SREBF1chr17

17740041

-LRRC48chr17

17877166

+
5CDS-5UTRENST00000435530ENST00000399182SREBF1chr17

17740041

-LRRC48chr17

17877166

+
5CDS-intronENST00000435530ENST00000583995SREBF1chr17

17740041

-LRRC48chr17

17877166

+
intron-5UTRENST00000583732ENST00000411504SREBF1chr17

17740041

-LRRC48chr17

17877166

+
intron-5UTRENST00000583732ENST00000313838SREBF1chr17

17740041

-LRRC48chr17

17877166

+
intron-5UTRENST00000583732ENST00000399187SREBF1chr17

17740041

-LRRC48chr17

17877166

+
intron-5UTRENST00000583732ENST00000584166SREBF1chr17

17740041

-LRRC48chr17

17877166

+
intron-5UTRENST00000583732ENST00000399182SREBF1chr17

17740041

-LRRC48chr17

17877166

+
intron-intronENST00000583732ENST00000583995SREBF1chr17

17740041

-LRRC48chr17

17877166

+

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FusionProtFeatures for SREBF1_LRRC48


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SREBF1

P36956

LRRC48

Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}.

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 SREBF1_LRRC48


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 SREBF1_LRRC48


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
SREBF1LMNA, TWIST2, UBE2I, CREBBP, YY1, SP1, NR0B1, MAPK3, MAPK1, FBXW7, KLF13, EP300, AR, MED15, MED23, MED7, MED13, MED12, MED1, MED14, MED24, MED26, MED6, HNF4A, TRRAP, KAT2A, ATM, GCN1L1, TADA2B, TADA3, RUVBL2, SIRT1, MED25, MED17, MED21, CDK8, USF1, GSK3B, ZBTB7C, SREBF2, SREBF1, ZBTB7A, SCAP, INSIG1, INSIG2, EGF, ATXN1, ATXN1L, HSP90AA1, SMARCD3, ERLIN2, KLF5, ID2, ID3, PRMT5, PVALB, SORL1, MTNR1B, PLK1, TRIM25, POLR2ALRRC48


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 SREBF1_LRRC48


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 SREBF1_LRRC48


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSREBF1C0011853Diabetes Mellitus, Experimental2CTD_human
HgeneSREBF1C0400966Non-alcoholic Fatty Liver Disease2CTD_human
HgeneSREBF1C2239176Liver carcinoma2CTD_human
HgeneSREBF1C0015695Fatty Liver1CTD_human
HgeneSREBF1C0021655Insulin Resistance1CTD_human
HgeneSREBF1C0022661Kidney Failure, Chronic1CTD_human
HgeneSREBF1C0023893Liver Cirrhosis, Experimental1CTD_human
HgeneSREBF1C0028754Obesity1CTD_human
HgeneSREBF1C0036341Schizophrenia1PSYGENET