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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: 26115

FusionGeneSummary for PBX1_DHX40

check button Fusion gene summary
Fusion gene informationFusion gene name: PBX1_DHX40
Fusion gene ID: 26115
HgeneTgene
Gene symbol

PBX1

DHX40

Gene ID

5087

79665

Gene namePBX homeobox 1DEAH-box helicase 40
SynonymsCAKUHEDARG147|DDX40|PAD
Cytomap

1q23.3

17q23.1

Type of geneprotein-codingprotein-coding
Descriptionpre-B-cell leukemia transcription factor 1homeobox protein PBX1homeobox protein PRLpre-B-cell leukemia homeobox 1probable ATP-dependent RNA helicase DHX40DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 40 (RNA helicase)DEAH (Asp-Glu-Ala-His) box polypeptide 40DEAH box protein 40
Modification date2018051920180523
UniProtAcc

P40424

Q8IX18

Ensembl transtripts involved in fusion geneENST00000420696, ENST00000401534, 
ENST00000559240, ENST00000367897, 
ENST00000540236, ENST00000560641, 
ENST00000474046, ENST00000485769, 
ENST00000540246, 		ENST00000251241, 
ENST00000451169, ENST00000425628, 
Fusion gene scores* DoF score13 X 6 X 3=2346 X 4 X 2=48
# samples 156
** MAII scorelog2(15/234*10)=-0.641546029087524
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(6/48*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: PBX1 [Title/Abstract] AND DHX40 [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

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
TCGARVBRCATCGA-E9-A22D-01APBX1chr1

164532548

+DHX40chr17

57679883

+
* 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
Frame-shiftENST00000420696ENST00000251241PBX1chr1

164532548

+DHX40chr17

57679883

+
Frame-shiftENST00000420696ENST00000451169PBX1chr1

164532548

+DHX40chr17

57679883

+
Frame-shiftENST00000420696ENST00000425628PBX1chr1

164532548

+DHX40chr17

57679883

+
Frame-shiftENST00000401534ENST00000251241PBX1chr1

164532548

+DHX40chr17

57679883

+
Frame-shiftENST00000401534ENST00000451169PBX1chr1

164532548

+DHX40chr17

57679883

+
Frame-shiftENST00000401534ENST00000425628PBX1chr1

164532548

+DHX40chr17

57679883

+
Frame-shiftENST00000559240ENST00000251241PBX1chr1

164532548

+DHX40chr17

57679883

+
Frame-shiftENST00000559240ENST00000451169PBX1chr1

164532548

+DHX40chr17

57679883

+
Frame-shiftENST00000559240ENST00000425628PBX1chr1

164532548

+DHX40chr17

57679883

+
Frame-shiftENST00000367897ENST00000251241PBX1chr1

164532548

+DHX40chr17

57679883

+
Frame-shiftENST00000367897ENST00000451169PBX1chr1

164532548

+DHX40chr17

57679883

+
Frame-shiftENST00000367897ENST00000425628PBX1chr1

164532548

+DHX40chr17

57679883

+
Frame-shiftENST00000540236ENST00000251241PBX1chr1

164532548

+DHX40chr17

57679883

+
Frame-shiftENST00000540236ENST00000451169PBX1chr1

164532548

+DHX40chr17

57679883

+
Frame-shiftENST00000540236ENST00000425628PBX1chr1

164532548

+DHX40chr17

57679883

+
intron-3CDSENST00000560641ENST00000251241PBX1chr1

164532548

+DHX40chr17

57679883

+
intron-3CDSENST00000560641ENST00000451169PBX1chr1

164532548

+DHX40chr17

57679883

+
intron-3CDSENST00000560641ENST00000425628PBX1chr1

164532548

+DHX40chr17

57679883

+
intron-3CDSENST00000474046ENST00000251241PBX1chr1

164532548

+DHX40chr17

57679883

+
intron-3CDSENST00000474046ENST00000451169PBX1chr1

164532548

+DHX40chr17

57679883

+
intron-3CDSENST00000474046ENST00000425628PBX1chr1

164532548

+DHX40chr17

57679883

+
intron-3CDSENST00000485769ENST00000251241PBX1chr1

164532548

+DHX40chr17

57679883

+
intron-3CDSENST00000485769ENST00000451169PBX1chr1

164532548

+DHX40chr17

57679883

+
intron-3CDSENST00000485769ENST00000425628PBX1chr1

164532548

+DHX40chr17

57679883

+
intron-3CDSENST00000540246ENST00000251241PBX1chr1

164532548

+DHX40chr17

57679883

+
intron-3CDSENST00000540246ENST00000451169PBX1chr1

164532548

+DHX40chr17

57679883

+
intron-3CDSENST00000540246ENST00000425628PBX1chr1

164532548

+DHX40chr17

57679883

+

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FusionProtFeatures for PBX1_DHX40


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PBX1

P40424

DHX40

Q8IX18

Binds the sequence 5'-ATCAATCAA-3'. Acts as atranscriptional activator of PF4 in complex with MEIS1. Convertedinto a potent transcriptional activator by the (1;19)translocation. May have a role in steroidogenesis and,subsequently, sexual development and differentiation. IsoformPBX1b as part of a PDX1:PBX1b:MEIS2b complex in pancreatic acinarcells is involved in the transcriptional activation of the ELA1enhancer; the complex binds to the enhancer B element andcooperates with the transcription factor 1 complex (PTF1) bound tothe enhancer A element. Probably in complex with MEIS2, isinvolved in transcriptional regulation by KLF4. Acts as atranscriptional activator of NKX2-5 and a transcriptionalrepressor of CDKN2B. Together with NKX2-5, it is required forspleen development through a mechanism that involves CDKN2Brepression (By similarity). {ECO:0000250,ECO:0000269|PubMed:12609849, ECO:0000269|PubMed:21746878}. Probable ATP-dependent RNA helicase. {ECO:0000250}.

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 PBX1_DHX40


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 PBX1_DHX40


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
PBX1MYH10, HOXB7, MEIS1, HOXA9, HOXD4, HOXD9, PKNOX1, HOXB1, HOXB8, NR3C1, MYOD1, MEIS2, HOXA10, SMARCA4, HDAC1, HDAC3, SIN3B, POU2F1, CREBBP, PDX1, ELAVL1, NEDD4L, HOXC8, KAT2A, MDM2, UCHL3, SMARCD3, LMX1B, MAGEA1, MAB21L1, MAB21L2, RBPJ, FOXA1, FOXC1, FOXE1, FOXQ1, TRAF1, FAM222A, VWA5A, C5orf24, CCDC120, C16orf71, ESR1DHX40G3BP1, TERF2, IFIT2, CHUK, NAPA, HAUS7, SPG21, MAD2L1BP, PKN3, SPDL1, POGLUT1, MTHFD2, NUDCD1, FUS, ECE2, NTRK1, MED4, USP7, JMJD6, EPM2AIP1, IARS2


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 PBX1_DHX40


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 PBX1_DHX40


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePBX1C0006413Burkitt Lymphoma2CTD_human
HgenePBX1C0236969Substance-Related Disorders1CTD_human