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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: 9133

FusionGeneSummary for CYP11A1_CYP11A1

check button Fusion gene summary
Fusion gene informationFusion gene name: CYP11A1_CYP11A1
Fusion gene ID: 9133
HgeneTgene
Gene symbol

CYP11A1

CYP11A1

Gene ID

1583

1583

Gene namecytochrome P450 family 11 subfamily A member 1cytochrome P450 family 11 subfamily A member 1
SynonymsCYP11A|CYPXIA1|P450SCCCYP11A|CYPXIA1|P450SCC
Cytomap

15q24.1

15q24.1

Type of geneprotein-codingprotein-coding
Descriptioncholesterol side-chain cleavage enzyme, mitochondrialcholesterol 20-22 desmolasecholesterol monooxygenase (side-chain cleaving)cytochrome P450 11A1cytochrome P450 family 11 subfamily A polypeptide 1cytochrome P450(scc)cytochrome P450, subfamily XIA cholesterol side-chain cleavage enzyme, mitochondrialcholesterol 20-22 desmolasecholesterol monooxygenase (side-chain cleaving)cytochrome P450 11A1cytochrome P450 family 11 subfamily A polypeptide 1cytochrome P450(scc)cytochrome P450, subfamily XIA
Modification date2018052320180523
UniProtAcc

P05108

P05108

Ensembl transtripts involved in fusion geneENST00000358632, ENST00000268053, 
ENST00000419019, ENST00000541301, 
ENST00000467407, 
ENST00000358632, 
ENST00000268053, ENST00000419019, 
ENST00000541301, ENST00000467407, 
Fusion gene scores* DoF score1 X 1 X 1=16 X 4 X 4=96
# samples 18
** MAII scorelog2(1/1*10)=3.32192809488736log2(8/96*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CYP11A1 [Title/Abstract] AND CYP11A1 [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
HgeneCYP11A1

GO:0006700

C21-steroid hormone biosynthetic process

11502818|18182448|21636783

HgeneCYP11A1

GO:0008203

cholesterol metabolic process

21636783

TgeneCYP11A1

GO:0006700

C21-steroid hormone biosynthetic process

11502818|18182448|21636783

TgeneCYP11A1

GO:0008203

cholesterol metabolic process

21636783


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
ChiTaRS3.1BE767819CYP11A1chr15

74631082

-CYP11A1chr15

74637441

-
* 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-3CDSENST00000358632ENST00000358632CYP11A1chr15

74631082

-CYP11A1chr15

74637441

-
intron-3CDSENST00000358632ENST00000268053CYP11A1chr15

74631082

-CYP11A1chr15

74637441

-
intron-3CDSENST00000358632ENST00000419019CYP11A1chr15

74631082

-CYP11A1chr15

74637441

-
intron-intronENST00000358632ENST00000541301CYP11A1chr15

74631082

-CYP11A1chr15

74637441

-
intron-intronENST00000358632ENST00000467407CYP11A1chr15

74631082

-CYP11A1chr15

74637441

-
intron-3CDSENST00000268053ENST00000358632CYP11A1chr15

74631082

-CYP11A1chr15

74637441

-
intron-3CDSENST00000268053ENST00000268053CYP11A1chr15

74631082

-CYP11A1chr15

74637441

-
intron-3CDSENST00000268053ENST00000419019CYP11A1chr15

74631082

-CYP11A1chr15

74637441

-
intron-intronENST00000268053ENST00000541301CYP11A1chr15

74631082

-CYP11A1chr15

74637441

-
intron-intronENST00000268053ENST00000467407CYP11A1chr15

74631082

-CYP11A1chr15

74637441

-
intron-3CDSENST00000419019ENST00000358632CYP11A1chr15

74631082

-CYP11A1chr15

74637441

-
intron-3CDSENST00000419019ENST00000268053CYP11A1chr15

74631082

-CYP11A1chr15

74637441

-
intron-3CDSENST00000419019ENST00000419019CYP11A1chr15

74631082

-CYP11A1chr15

74637441

-
intron-intronENST00000419019ENST00000541301CYP11A1chr15

74631082

-CYP11A1chr15

74637441

-
intron-intronENST00000419019ENST00000467407CYP11A1chr15

74631082

-CYP11A1chr15

74637441

-
intron-3CDSENST00000541301ENST00000358632CYP11A1chr15

74631082

-CYP11A1chr15

74637441

-
intron-3CDSENST00000541301ENST00000268053CYP11A1chr15

74631082

-CYP11A1chr15

74637441

-
intron-3CDSENST00000541301ENST00000419019CYP11A1chr15

74631082

-CYP11A1chr15

74637441

-
intron-intronENST00000541301ENST00000541301CYP11A1chr15

74631082

-CYP11A1chr15

74637441

-
intron-intronENST00000541301ENST00000467407CYP11A1chr15

74631082

-CYP11A1chr15

74637441

-
intron-3CDSENST00000467407ENST00000358632CYP11A1chr15

74631082

-CYP11A1chr15

74637441

-
intron-3CDSENST00000467407ENST00000268053CYP11A1chr15

74631082

-CYP11A1chr15

74637441

-
intron-3CDSENST00000467407ENST00000419019CYP11A1chr15

74631082

-CYP11A1chr15

74637441

-
intron-intronENST00000467407ENST00000541301CYP11A1chr15

74631082

-CYP11A1chr15

74637441

-
intron-intronENST00000467407ENST00000467407CYP11A1chr15

74631082

-CYP11A1chr15

74637441

-

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FusionProtFeatures for CYP11A1_CYP11A1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CYP11A1

P05108

CYP11A1

P05108

Catalyzes the side-chain cleavage reaction ofcholesterol to pregnenolone, the precursor of most steroidhormones. {ECO:0000269|PubMed:21636783}. Catalyzes the side-chain cleavage reaction ofcholesterol to pregnenolone, the precursor of most steroidhormones. {ECO:0000269|PubMed:21636783}.

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 CYP11A1_CYP11A1


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 CYP11A1_CYP11A1


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 CYP11A1_CYP11A1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneCYP11A1P05108DB00357AminoglutethimideCholesterol side-chain cleavage enzyme, mitochondrialsmall moleculeapproved|investigational
TgeneCYP11A1P05108DB00357AminoglutethimideCholesterol side-chain cleavage enzyme, mitochondrialsmall moleculeapproved|investigational

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RelatedDiseases for CYP11A1_CYP11A1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCYP11A1C3151055ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE4ORPHANET;UNIPROT
HgeneCYP11A1C0001623Adrenal gland hypofunction1CTD_human;HPO
HgeneCYP11A1C0014170Endometrial Neoplasms1CTD_human
HgeneCYP11A1C0036572Seizures1CTD_human
HgeneCYP11A1C0342474Lipoid congenital adrenal hyperplasia1CTD_human
HgeneCYP11A1C275182446, XY Disorders of Sex Development1CTD_human
HgeneCYP11A1C3496069cocaine use1PSYGENET
TgeneCYP11A1C3151055ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE4ORPHANET;UNIPROT
TgeneCYP11A1C0001623Adrenal gland hypofunction1CTD_human;HPO
TgeneCYP11A1C0014170Endometrial Neoplasms1CTD_human
TgeneCYP11A1C0036572Seizures1CTD_human
TgeneCYP11A1C0342474Lipoid congenital adrenal hyperplasia1CTD_human
TgeneCYP11A1C275182446, XY Disorders of Sex Development1CTD_human
TgeneCYP11A1C3496069cocaine use1PSYGENET