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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: 491

FusionGeneSummary for ACSM2B_CYP3A4

check button Fusion gene summary
Fusion gene informationFusion gene name: ACSM2B_CYP3A4
Fusion gene ID: 491
HgeneTgene
Gene symbol

ACSM2B

CYP3A4

Gene ID

348158

1576

Gene nameacyl-CoA synthetase medium chain family member 2Bcytochrome P450 family 3 subfamily A member 4
SynonymsACSM2|HXMA|HYST1046CP33|CP34|CYP3A|CYP3A3|CYPIIIA3|CYPIIIA4|HLP|NF-25|P450C3|P450PCN1
Cytomap

16p12.3

7q22.1

Type of geneprotein-codingprotein-coding
Descriptionacyl-coenzyme A synthetase ACSM2B, mitochondrialacyl-CoA synthetase medium-chain family member 2butyrate--CoA ligase 2Bbutyryl-coenzyme A synthetase 2Bmiddle-chain acyl-CoA synthetase 2Bxenobiotic/medium-chain fatty acid-CoA ligase HXM-Axenobiotic/mcytochrome P450 3A41,8-cineole 2-exo-monooxygenaseP450-III, steroid induciblealbendazole monooxygenasealbendazole sulfoxidasecholesterol 25-hydroxylasecytochrome P450 3A3cytochrome P450 HLpcytochrome P450 NF-25cytochrome P450, family 3, subfamily
Modification date2018052320180527
UniProtAcc

Q68CK6

P08684

Ensembl transtripts involved in fusion geneENST00000329697, ENST00000565322, 
ENST00000565232, ENST00000567001, 
ENST00000414188, ENST00000567288, 
ENST00000354593, ENST00000336411, 
Fusion gene scores* DoF score2 X 2 X 2=84 X 4 X 3=48
# samples 24
** MAII scorelog2(2/8*10)=1.32192809488736log2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ACSM2B [Title/Abstract] AND CYP3A4 [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
TgeneCYP3A4

GO:0002933

lipid hydroxylation

14559847

TgeneCYP3A4

GO:0008202

steroid metabolic process

14559847

TgeneCYP3A4

GO:0009822

alkaloid catabolic process

15039299

TgeneCYP3A4

GO:0016098

monoterpenoid metabolic process

16401082

TgeneCYP3A4

GO:0017144

drug metabolic process

15327587|19219744

TgeneCYP3A4

GO:0042737

drug catabolic process

15039299

TgeneCYP3A4

GO:0042738

exogenous drug catabolic process

18619574

TgeneCYP3A4

GO:0046483

heterocycle metabolic process

15327587

TgeneCYP3A4

GO:0055114

oxidation-reduction process

16401082|19219744

TgeneCYP3A4

GO:0070989

oxidative demethylation

15039299|18619574


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
ChiTaRS3.1CB162303ACSM2Bchr16

20548553

+CYP3A4chr7

99359055

-
* 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-intronENST00000329697ENST00000354593ACSM2Bchr16

20548553

+CYP3A4chr7

99359055

-
intron-intronENST00000329697ENST00000336411ACSM2Bchr16

20548553

+CYP3A4chr7

99359055

-
intron-intronENST00000565322ENST00000354593ACSM2Bchr16

20548553

+CYP3A4chr7

99359055

-
intron-intronENST00000565322ENST00000336411ACSM2Bchr16

20548553

+CYP3A4chr7

99359055

-
intron-intronENST00000565232ENST00000354593ACSM2Bchr16

20548553

+CYP3A4chr7

99359055

-
intron-intronENST00000565232ENST00000336411ACSM2Bchr16

20548553

+CYP3A4chr7

99359055

-
intron-intronENST00000567001ENST00000354593ACSM2Bchr16

20548553

+CYP3A4chr7

99359055

-
intron-intronENST00000567001ENST00000336411ACSM2Bchr16

20548553

+CYP3A4chr7

99359055

-
intron-intronENST00000414188ENST00000354593ACSM2Bchr16

20548553

+CYP3A4chr7

99359055

-
intron-intronENST00000414188ENST00000336411ACSM2Bchr16

20548553

+CYP3A4chr7

99359055

-
intron-intronENST00000567288ENST00000354593ACSM2Bchr16

20548553

+CYP3A4chr7

99359055

-
intron-intronENST00000567288ENST00000336411ACSM2Bchr16

20548553

+CYP3A4chr7

99359055

-

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FusionProtFeatures for ACSM2B_CYP3A4


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ACSM2B

Q68CK6

CYP3A4

P08684

Has medium-chain fatty acid:CoA ligase activity withbroad substrate specificity (in vitro). Acts on acids from C(4) toC(11) and on the corresponding 3-hydroxy- and 2,3- or 3,4-unsaturated acids (in vitro). {ECO:0000269|PubMed:12616642}. Cytochromes P450 are a group of heme-thiolatemonooxygenases. In liver microsomes, this enzyme is involved in anNADPH-dependent electron transport pathway. It performs a varietyof oxidation reactions (e.g. caffeine 8-oxidation, omeprazolesulphoxidation, midazolam 1'-hydroxylation and midazolam 4-hydroxylation) of structurally unrelated compounds, includingsteroids, fatty acids, and xenobiotics. Acts as a 1,8-cineole 2-exo-monooxygenase. The enzyme also hydroxylates etoposide(PubMed:11159812). Catalyzes 4-beta-hydroxylation of cholesterol.May catalyze 25-hydroxylation of cholesterol in vitro(PubMed:21576599). {ECO:0000269|PubMed:11159812,ECO:0000269|PubMed:21576599}.

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 ACSM2B_CYP3A4


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 ACSM2B_CYP3A4


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 ACSM2B_CYP3A4


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneCYP3A4P08684DB01267PaliperidoneCytochrome P450 3A4small moleculeapproved
TgeneCYP3A4P08684DB00951IsoniazidCytochrome P450 3A4small moleculeapproved|investigational
TgeneCYP3A4P08684DB11994DiacereinCytochrome P450 3A4small moleculeapproved|investigational
TgeneCYP3A4P08684DB00143GlutathioneCytochrome P450 3A4small moleculeapproved|investigational|nutraceutical

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RelatedDiseases for ACSM2B_CYP3A4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneCYP3A4C0019196Hepatitis C1CTD_human
TgeneCYP3A4C0029463Osteosarcoma1CTD_human
TgeneCYP3A4C0033578Prostatic Neoplasms1CTD_human
TgeneCYP3A4C0036341Schizophrenia1PSYGENET
TgeneCYP3A4C0040479Torsades de Pointes1CTD_human
TgeneCYP3A4C0086132Depressive Symptoms1PSYGENET
TgeneCYP3A4C0221765Chronic schizophrenia1PSYGENET
TgeneCYP3A4C1458155Mammary Neoplasms1CTD_human