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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: 32731

FusionGeneSummary for SC5D_BCL11A

check button Fusion gene summary
Fusion gene informationFusion gene name: SC5D_BCL11A
Fusion gene ID: 32731
HgeneTgene
Gene symbol

SC5D

BCL11A

Gene ID

6309

53335

Gene namesterol-C5-desaturaseB cell CLL/lymphoma 11A
SynonymsERG3|S5DES|SC5DLBCL11A-L|BCL11A-S|BCL11A-XL|BCL11a-M|CTIP1|DILOS|EVI9|HBFQTL5|ZNF856
Cytomap

11q23.3-q24.1

2p16.1

Type of geneprotein-codingprotein-coding
Descriptionlathosterol oxidase3beta-hydroxysteroid-delta5-desaturaseC-5 sterol desaturasedelta(7)-sterol 5-desaturasedelta(7)-sterol C5(6)-desaturasefungal ERG3, delta-5-desaturase-likelathosterol 5-desaturaselathosterol dehydrogenasesterol-C5-desaturase (ERB-cell lymphoma/leukemia 11AB-cell CLL/lymphoma 11A (zinc finger protein) isoform 2BCL11A B-cell CLL/lymphoma 11A (zinc finger protein) isoform 1C2H2-type zinc finger proteinCOUP-TF-interacting protein 1ecotropic viral integration site 9 homologecot
Modification date2018052320180527
UniProtAcc

O75845

Q9H165

Ensembl transtripts involved in fusion geneENST00000264027, ENST00000534230, 
ENST00000392789, ENST00000528991, 
ENST00000356842, ENST00000359629, 
ENST00000538214, ENST00000537768, 
ENST00000335712, ENST00000477659, 
ENST00000358510, 
Fusion gene scores* DoF score2 X 2 X 2=89 X 8 X 3=216
# samples 28
** MAII scorelog2(2/8*10)=1.32192809488736log2(8/216*10)=-1.43295940727611
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SC5D [Title/Abstract] AND BCL11A [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
TgeneBCL11A

GO:0000122

negative regulation of transcription by RNA polymerase II

19153051


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
ChiTaRS3.1AI655175SC5Dchr11

121169803

-BCL11Achr2

60733201

+
* 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-intronENST00000264027ENST00000356842SC5Dchr11

121169803

-BCL11Achr2

60733201

+
intron-intronENST00000264027ENST00000359629SC5Dchr11

121169803

-BCL11Achr2

60733201

+
intron-intronENST00000264027ENST00000538214SC5Dchr11

121169803

-BCL11Achr2

60733201

+
intron-intronENST00000264027ENST00000537768SC5Dchr11

121169803

-BCL11Achr2

60733201

+
intron-intronENST00000264027ENST00000335712SC5Dchr11

121169803

-BCL11Achr2

60733201

+
intron-intronENST00000264027ENST00000477659SC5Dchr11

121169803

-BCL11Achr2

60733201

+
intron-intronENST00000264027ENST00000358510SC5Dchr11

121169803

-BCL11Achr2

60733201

+
intron-intronENST00000534230ENST00000356842SC5Dchr11

121169803

-BCL11Achr2

60733201

+
intron-intronENST00000534230ENST00000359629SC5Dchr11

121169803

-BCL11Achr2

60733201

+
intron-intronENST00000534230ENST00000538214SC5Dchr11

121169803

-BCL11Achr2

60733201

+
intron-intronENST00000534230ENST00000537768SC5Dchr11

121169803

-BCL11Achr2

60733201

+
intron-intronENST00000534230ENST00000335712SC5Dchr11

121169803

-BCL11Achr2

60733201

+
intron-intronENST00000534230ENST00000477659SC5Dchr11

121169803

-BCL11Achr2

60733201

+
intron-intronENST00000534230ENST00000358510SC5Dchr11

121169803

-BCL11Achr2

60733201

+
intron-intronENST00000392789ENST00000356842SC5Dchr11

121169803

-BCL11Achr2

60733201

+
intron-intronENST00000392789ENST00000359629SC5Dchr11

121169803

-BCL11Achr2

60733201

+
intron-intronENST00000392789ENST00000538214SC5Dchr11

121169803

-BCL11Achr2

60733201

+
intron-intronENST00000392789ENST00000537768SC5Dchr11

121169803

-BCL11Achr2

60733201

+
intron-intronENST00000392789ENST00000335712SC5Dchr11

121169803

-BCL11Achr2

60733201

+
intron-intronENST00000392789ENST00000477659SC5Dchr11

121169803

-BCL11Achr2

60733201

+
intron-intronENST00000392789ENST00000358510SC5Dchr11

121169803

-BCL11Achr2

60733201

+
intron-intronENST00000528991ENST00000356842SC5Dchr11

121169803

-BCL11Achr2

60733201

+
intron-intronENST00000528991ENST00000359629SC5Dchr11

121169803

-BCL11Achr2

60733201

+
intron-intronENST00000528991ENST00000538214SC5Dchr11

121169803

-BCL11Achr2

60733201

+
intron-intronENST00000528991ENST00000537768SC5Dchr11

121169803

-BCL11Achr2

60733201

+
intron-intronENST00000528991ENST00000335712SC5Dchr11

121169803

-BCL11Achr2

60733201

+
intron-intronENST00000528991ENST00000477659SC5Dchr11

121169803

-BCL11Achr2

60733201

+
intron-intronENST00000528991ENST00000358510SC5Dchr11

121169803

-BCL11Achr2

60733201

+

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FusionProtFeatures for SC5D_BCL11A


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SC5D

O75845

BCL11A

Q9H165

Catalyzes a dehydrogenation to introduce C5-6 doublebond into lathosterol.

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 SC5D_BCL11A


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 SC5D_BCL11A


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 SC5D_BCL11A


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 SC5D_BCL11A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSC5DC1846421Lathosterolosis2CTD_human;ORPHANET;UNIPROT
HgeneSC5DC0023895Liver diseases1CTD_human
HgeneSC5DC3714756Intellectual Disability1CTD_human
TgeneBCL11AC0003635Apraxias1CTD_human
TgeneBCL11AC0010606Adenoid Cystic Carcinoma1CTD_human
TgeneBCL11AC0023014Language Development Disorders1CTD_human
TgeneBCL11AC0032460Polycystic Ovary Syndrome1CTD_human
TgeneBCL11AC0036095Salivary Gland Neoplasms1CTD_human
TgeneBCL11AC0036341Schizophrenia1PSYGENET