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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: 3957

FusionGeneSummary for BCAS3_ORMDL3

check button Fusion gene summary
Fusion gene informationFusion gene name: BCAS3_ORMDL3
Fusion gene ID: 3957
HgeneTgene
Gene symbol

BCAS3

ORMDL3

Gene ID

54828

94103

Gene nameBCAS3, microtubule associated cell migration factorORMDL sphingolipid biosynthesis regulator 3
SynonymsGAOB1|MAAB-
Cytomap

17q23.2

17q21.1

Type of geneprotein-codingprotein-coding
Descriptionbreast carcinoma-amplified sequence 3BCAS4/BCAS3 fusionRudhirabreast carcinoma amplified sequence 4/3 fusion proteinmetastasis associated antigen of breast cancerprotein Maab1ORM1-like protein 3
Modification date2018052320180523
UniProtAcc

Q9H6U6

Q8N138

Ensembl transtripts involved in fusion geneENST00000589222, ENST00000407086, 
ENST00000390652, ENST00000408905, 
ENST00000588462, ENST00000585744, 
ENST00000588874, ENST00000585812, 
ENST00000304046, ENST00000579695, 
ENST00000394169, ENST00000584220, 
ENST00000582052, 
Fusion gene scores* DoF score40 X 23 X 15=138006 X 2 X 5=60
# samples 476
** MAII scorelog2(47/13800*10)=-4.87586369998789
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(6/60*10)=0
Context

PubMed: BCAS3 [Title/Abstract] AND ORMDL3 [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
HgeneBCAS3

GO:0043085

positive regulation of catalytic activity

17505058

HgeneBCAS3

GO:0045944

positive regulation of transcription by RNA polymerase II

17505058

HgeneBCAS3

GO:0071391

cellular response to estrogen stimulus

17505058


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
TCGALDUCECTCGA-KJ-A3U4-01ABCAS3chr17

58786686

+ORMDL3chr17

38080478

-
* 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-5UTRENST00000589222ENST00000304046BCAS3chr17

58786686

+ORMDL3chr17

38080478

-
5CDS-5UTRENST00000589222ENST00000579695BCAS3chr17

58786686

+ORMDL3chr17

38080478

-
5CDS-5UTRENST00000589222ENST00000394169BCAS3chr17

58786686

+ORMDL3chr17

38080478

-
5CDS-intronENST00000589222ENST00000584220BCAS3chr17

58786686

+ORMDL3chr17

38080478

-
5CDS-intronENST00000589222ENST00000582052BCAS3chr17

58786686

+ORMDL3chr17

38080478

-
5CDS-5UTRENST00000407086ENST00000304046BCAS3chr17

58786686

+ORMDL3chr17

38080478

-
5CDS-5UTRENST00000407086ENST00000579695BCAS3chr17

58786686

+ORMDL3chr17

38080478

-
5CDS-5UTRENST00000407086ENST00000394169BCAS3chr17

58786686

+ORMDL3chr17

38080478

-
5CDS-intronENST00000407086ENST00000584220BCAS3chr17

58786686

+ORMDL3chr17

38080478

-
5CDS-intronENST00000407086ENST00000582052BCAS3chr17

58786686

+ORMDL3chr17

38080478

-
5CDS-5UTRENST00000390652ENST00000304046BCAS3chr17

58786686

+ORMDL3chr17

38080478

-
5CDS-5UTRENST00000390652ENST00000579695BCAS3chr17

58786686

+ORMDL3chr17

38080478

-
5CDS-5UTRENST00000390652ENST00000394169BCAS3chr17

58786686

+ORMDL3chr17

38080478

-
5CDS-intronENST00000390652ENST00000584220BCAS3chr17

58786686

+ORMDL3chr17

38080478

-
5CDS-intronENST00000390652ENST00000582052BCAS3chr17

58786686

+ORMDL3chr17

38080478

-
5CDS-5UTRENST00000408905ENST00000304046BCAS3chr17

58786686

+ORMDL3chr17

38080478

-
5CDS-5UTRENST00000408905ENST00000579695BCAS3chr17

58786686

+ORMDL3chr17

38080478

-
5CDS-5UTRENST00000408905ENST00000394169BCAS3chr17

58786686

+ORMDL3chr17

38080478

-
5CDS-intronENST00000408905ENST00000584220BCAS3chr17

58786686

+ORMDL3chr17

38080478

-
5CDS-intronENST00000408905ENST00000582052BCAS3chr17

58786686

+ORMDL3chr17

38080478

-
5CDS-5UTRENST00000588462ENST00000304046BCAS3chr17

58786686

+ORMDL3chr17

38080478

-
5CDS-5UTRENST00000588462ENST00000579695BCAS3chr17

58786686

+ORMDL3chr17

38080478

-
5CDS-5UTRENST00000588462ENST00000394169BCAS3chr17

58786686

+ORMDL3chr17

38080478

-
5CDS-intronENST00000588462ENST00000584220BCAS3chr17

58786686

+ORMDL3chr17

38080478

-
5CDS-intronENST00000588462ENST00000582052BCAS3chr17

58786686

+ORMDL3chr17

38080478

-
intron-5UTRENST00000585744ENST00000304046BCAS3chr17

58786686

+ORMDL3chr17

38080478

-
intron-5UTRENST00000585744ENST00000579695BCAS3chr17

58786686

+ORMDL3chr17

38080478

-
intron-5UTRENST00000585744ENST00000394169BCAS3chr17

58786686

+ORMDL3chr17

38080478

-
intron-intronENST00000585744ENST00000584220BCAS3chr17

58786686

+ORMDL3chr17

38080478

-
intron-intronENST00000585744ENST00000582052BCAS3chr17

58786686

+ORMDL3chr17

38080478

-
intron-5UTRENST00000588874ENST00000304046BCAS3chr17

58786686

+ORMDL3chr17

38080478

-
intron-5UTRENST00000588874ENST00000579695BCAS3chr17

58786686

+ORMDL3chr17

38080478

-
intron-5UTRENST00000588874ENST00000394169BCAS3chr17

58786686

+ORMDL3chr17

38080478

-
intron-intronENST00000588874ENST00000584220BCAS3chr17

58786686

+ORMDL3chr17

38080478

-
intron-intronENST00000588874ENST00000582052BCAS3chr17

58786686

+ORMDL3chr17

38080478

-
intron-5UTRENST00000585812ENST00000304046BCAS3chr17

58786686

+ORMDL3chr17

38080478

-
intron-5UTRENST00000585812ENST00000579695BCAS3chr17

58786686

+ORMDL3chr17

38080478

-
intron-5UTRENST00000585812ENST00000394169BCAS3chr17

58786686

+ORMDL3chr17

38080478

-
intron-intronENST00000585812ENST00000584220BCAS3chr17

58786686

+ORMDL3chr17

38080478

-
intron-intronENST00000585812ENST00000582052BCAS3chr17

58786686

+ORMDL3chr17

38080478

-

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FusionProtFeatures for BCAS3_ORMDL3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
BCAS3

Q9H6U6

ORMDL3

Q8N138

Negative regulator of sphingolipid synthesis. Mayindirectly regulate endoplasmic reticulum-mediated Ca(+2)signaling. {ECO:0000269|PubMed:20182505}.

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 BCAS3_ORMDL3


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 BCAS3_ORMDL3


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
BCAS3CTBP1, CTBP2, CDC23, C16orf70, ZDHHC17, ESR1, PELP1, HIST1H3A, KAT2B, WIPI2, ATM, BAG4, CCND1, FBXW7, KRAS, PALB2, PHB, PTPN1, SMAD4, STK11, TGFB1, TSG101, XRCC3, OFD1, CEP128, FBF1, NPHP1, SCLT1, XPO1, CD14, HDAC1, IRF3, MAGEE1, IL17RA, DOCK5, VWA5A, RAB2BORMDL3EEF1A1, SPTLC1, ELAVL1, LNX1, APP, TCTN3, SLC1A1, SLC22A9, SPRY4, SLC2A12, PTPN11, LMNA


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 BCAS3_ORMDL3


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 BCAS3_ORMDL3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneORMDL3C0004096Asthma2CTD_human
TgeneORMDL3C0009324Ulcerative Colitis1CTD_human