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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: 21801

FusionGeneSummary for MGAT5B_CYP11A1

check button Fusion gene summary
Fusion gene informationFusion gene name: MGAT5B_CYP11A1
Fusion gene ID: 21801
HgeneTgene
Gene symbol

MGAT5B

CYP11A1

Gene ID

146664

1583

Gene namemannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme Bcytochrome P450 family 11 subfamily A member 1
SynonymsGnT-IX|GnT-VBCYP11A|CYPXIA1|P450SCC
Cytomap

17q25.2

15q24.1

Type of geneprotein-codingprotein-coding
Descriptionalpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase BN-acetylglucosaminyl-transferase VbN-acetylglucosaminyltransferase IXalpha-mannoside beta-1,6-N-acetylglucosaminyltransferase Bbeta(1,6)-N-acetylglucosaminyltransferase VglcNAc-T 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

Q3V5L5

P05108

Ensembl transtripts involved in fusion geneENST00000569840, ENST00000301618, 
ENST00000565675, ENST00000374998, 
ENST00000428789, 		ENST00000358632, 
ENST00000268053, ENST00000419019, 
ENST00000541301, ENST00000467407, 
Fusion gene scores* DoF score3 X 2 X 3=186 X 4 X 4=96
# samples 38
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(8/96*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MGAT5B [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
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
TCGARVBLCATCGA-GV-A40E-01AMGAT5Bchr17

74878380

+CYP11A1chr15

74640396

-
* 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-5UTRENST00000569840ENST00000358632MGAT5Bchr17

74878380

+CYP11A1chr15

74640396

-
5CDS-5UTRENST00000569840ENST00000268053MGAT5Bchr17

74878380

+CYP11A1chr15

74640396

-
5CDS-intronENST00000569840ENST00000419019MGAT5Bchr17

74878380

+CYP11A1chr15

74640396

-
5CDS-intronENST00000569840ENST00000541301MGAT5Bchr17

74878380

+CYP11A1chr15

74640396

-
5CDS-intronENST00000569840ENST00000467407MGAT5Bchr17

74878380

+CYP11A1chr15

74640396

-
5CDS-5UTRENST00000301618ENST00000358632MGAT5Bchr17

74878380

+CYP11A1chr15

74640396

-
5CDS-5UTRENST00000301618ENST00000268053MGAT5Bchr17

74878380

+CYP11A1chr15

74640396

-
5CDS-intronENST00000301618ENST00000419019MGAT5Bchr17

74878380

+CYP11A1chr15

74640396

-
5CDS-intronENST00000301618ENST00000541301MGAT5Bchr17

74878380

+CYP11A1chr15

74640396

-
5CDS-intronENST00000301618ENST00000467407MGAT5Bchr17

74878380

+CYP11A1chr15

74640396

-
5CDS-5UTRENST00000565675ENST00000358632MGAT5Bchr17

74878380

+CYP11A1chr15

74640396

-
5CDS-5UTRENST00000565675ENST00000268053MGAT5Bchr17

74878380

+CYP11A1chr15

74640396

-
5CDS-intronENST00000565675ENST00000419019MGAT5Bchr17

74878380

+CYP11A1chr15

74640396

-
5CDS-intronENST00000565675ENST00000541301MGAT5Bchr17

74878380

+CYP11A1chr15

74640396

-
5CDS-intronENST00000565675ENST00000467407MGAT5Bchr17

74878380

+CYP11A1chr15

74640396

-
3UTR-5UTRENST00000374998ENST00000358632MGAT5Bchr17

74878380

+CYP11A1chr15

74640396

-
3UTR-5UTRENST00000374998ENST00000268053MGAT5Bchr17

74878380

+CYP11A1chr15

74640396

-
3UTR-intronENST00000374998ENST00000419019MGAT5Bchr17

74878380

+CYP11A1chr15

74640396

-
3UTR-intronENST00000374998ENST00000541301MGAT5Bchr17

74878380

+CYP11A1chr15

74640396

-
3UTR-intronENST00000374998ENST00000467407MGAT5Bchr17

74878380

+CYP11A1chr15

74640396

-
5CDS-5UTRENST00000428789ENST00000358632MGAT5Bchr17

74878380

+CYP11A1chr15

74640396

-
5CDS-5UTRENST00000428789ENST00000268053MGAT5Bchr17

74878380

+CYP11A1chr15

74640396

-
5CDS-intronENST00000428789ENST00000419019MGAT5Bchr17

74878380

+CYP11A1chr15

74640396

-
5CDS-intronENST00000428789ENST00000541301MGAT5Bchr17

74878380

+CYP11A1chr15

74640396

-
5CDS-intronENST00000428789ENST00000467407MGAT5Bchr17

74878380

+CYP11A1chr15

74640396

-

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FusionProtFeatures for MGAT5B_CYP11A1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MGAT5B

Q3V5L5

CYP11A1

P05108

Glycosyltransferase that acts on alpha-linked mannose ofN-glycans and O-mannosyl glycans. Catalyzes the transfer of N-acetylglucosamine (GlcNAc) to the beta 1-6 linkage of the mannoseresidue of GlcNAcbeta1,2-Manalpha on both the alpha1,3- andalpha1,6-linked mannose arms in the core structure of N-glycan.Also acts on the GlcNAcbeta1,2-Manalpha1-Ser/Thr moiety, forming a2,6-branched structure in brain O-mannosyl glycan. Plays an activerole in modulating integrin and laminin-dependent adhesion andmigration of neuronal cells via its activity in the O-mannosylglycan pathway. {ECO:0000269|PubMed:12941944,ECO:0000269|PubMed:14617637, ECO:0000269|PubMed:14623122,ECO:0000269|PubMed:16606368, ECO:0000269|PubMed:16857188}. 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 MGAT5B_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 MGAT5B_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
MGAT5BPITX1, CAMK2B, HOXA1, MDFI, OTX1, PLSCR1, PTGER3, STK16, TRIP13, CREB5, RBPMS, VAC14, EIF4ENIF1, DMRT3, C20orf195, TXNDC5, FAM83A, KRTAP19-5, KLHL38, KRTAP12-2, KRTAP26-1, C4orf29CYP11A1FDX1, SMAD9, SMAD3, SMAD2, NLGN3


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 MGAT5B_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
TgeneCYP11A1P05108DB00357AminoglutethimideCholesterol side-chain cleavage enzyme, mitochondrialsmall moleculeapproved|investigational

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RelatedDiseases for MGAT5B_CYP11A1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMGAT5BC0032460Polycystic Ovary Syndrome1CTD_human
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