	FusionGeneSummary
	FusionProtFeature
	FusionGeneSequence
	FusionGenePPI
	RelatedDrugs
	RelatedDiseases

Fusion gene ID: 26116

FusionGeneSummary for PBX1_DISC1

Fusion gene summary

Fusion gene information	Fusion gene name: PBX1_DISC1
	Fusion gene ID: 26116
		Hgene	Tgene
	Gene symbol	PBX1	DISC1
	Gene ID	5087	27185
	Gene name	PBX homeobox 1	DISC1 scaffold protein
	Synonyms	CAKUHED	C1orf136\|SCZD9
	Cytomap	1q23.3	1q42.2
	Type of gene	protein-coding	protein-coding
	Description	pre-B-cell leukemia transcription factor 1homeobox protein PBX1homeobox protein PRLpre-B-cell leukemia homeobox 1	disrupted in schizophrenia 1 protein
	Modification date	20180519	20180519
	UniProtAcc	P40424	Q9NRI5
	Ensembl transtripts involved in fusion gene	ENST00000420696, ENST00000401534, ENST00000559240, ENST00000367897, ENST00000540236, ENST00000560641, ENST00000474046, ENST00000485769, ENST00000540246,	ENST00000602281, ENST00000539444, ENST00000602873, ENST00000366633, ENST00000366636, ENST00000535983, ENST00000537876, ENST00000366637, ENST00000439617, ENST00000427560, ENST00000317586,
Fusion gene scores	* DoF score	13 X 6 X 3=234	3 X 3 X 3=27
	# samples	15	4
	** MAII score	log2(15/234*10)=-0.641546029087524 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(4/27*10)=0.567040592723894 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0
Context	PubMed: PBX1 [Title/Abstract] AND DISC1 [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)

Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Partner

Gene

GO ID

GO term

PubMed ID

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 type	Source	Cancer type	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
TCGA	RV	BRCA	TCGA-A7-A13D-01B	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
TCGA	LD	BRCA	TCGA-A7-A13D-01A	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+

* LD: Li Ding group's fusion gene list
RV: Roel Verhaak group's fusion gene list
ChiTaRs fusion database

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.

ORF	Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
5CDS-intron	ENST00000420696	ENST00000602281	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-intron	ENST00000420696	ENST00000539444	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-intron	ENST00000420696	ENST00000602873	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-intron	ENST00000420696	ENST00000366633	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-intron	ENST00000420696	ENST00000366636	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-intron	ENST00000420696	ENST00000535983	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-intron	ENST00000420696	ENST00000537876	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-5UTR	ENST00000420696	ENST00000366637	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-5UTR	ENST00000420696	ENST00000439617	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-3UTR	ENST00000420696	ENST00000427560	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-intron	ENST00000420696	ENST00000317586	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-intron	ENST00000401534	ENST00000602281	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-intron	ENST00000401534	ENST00000539444	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-intron	ENST00000401534	ENST00000602873	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-intron	ENST00000401534	ENST00000366633	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-intron	ENST00000401534	ENST00000366636	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-intron	ENST00000401534	ENST00000535983	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-intron	ENST00000401534	ENST00000537876	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-5UTR	ENST00000401534	ENST00000366637	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-5UTR	ENST00000401534	ENST00000439617	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-3UTR	ENST00000401534	ENST00000427560	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-intron	ENST00000401534	ENST00000317586	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-intron	ENST00000559240	ENST00000602281	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-intron	ENST00000559240	ENST00000539444	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-intron	ENST00000559240	ENST00000602873	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-intron	ENST00000559240	ENST00000366633	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-intron	ENST00000559240	ENST00000366636	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-intron	ENST00000559240	ENST00000535983	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-intron	ENST00000559240	ENST00000537876	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-5UTR	ENST00000559240	ENST00000366637	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-5UTR	ENST00000559240	ENST00000439617	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-3UTR	ENST00000559240	ENST00000427560	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-intron	ENST00000559240	ENST00000317586	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-intron	ENST00000367897	ENST00000602281	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-intron	ENST00000367897	ENST00000539444	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-intron	ENST00000367897	ENST00000602873	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-intron	ENST00000367897	ENST00000366633	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-intron	ENST00000367897	ENST00000366636	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-intron	ENST00000367897	ENST00000535983	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-intron	ENST00000367897	ENST00000537876	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-5UTR	ENST00000367897	ENST00000366637	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-5UTR	ENST00000367897	ENST00000439617	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-3UTR	ENST00000367897	ENST00000427560	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-intron	ENST00000367897	ENST00000317586	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-intron	ENST00000540236	ENST00000602281	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-intron	ENST00000540236	ENST00000539444	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-intron	ENST00000540236	ENST00000602873	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-intron	ENST00000540236	ENST00000366633	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-intron	ENST00000540236	ENST00000366636	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-intron	ENST00000540236	ENST00000535983	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-intron	ENST00000540236	ENST00000537876	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-5UTR	ENST00000540236	ENST00000366637	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-5UTR	ENST00000540236	ENST00000439617	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-3UTR	ENST00000540236	ENST00000427560	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-intron	ENST00000540236	ENST00000317586	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
intron-intron	ENST00000560641	ENST00000602281	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
intron-intron	ENST00000560641	ENST00000539444	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
intron-intron	ENST00000560641	ENST00000602873	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
intron-intron	ENST00000560641	ENST00000366633	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
intron-intron	ENST00000560641	ENST00000366636	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
intron-intron	ENST00000560641	ENST00000535983	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
intron-intron	ENST00000560641	ENST00000537876	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
intron-5UTR	ENST00000560641	ENST00000366637	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
intron-5UTR	ENST00000560641	ENST00000439617	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
intron-3UTR	ENST00000560641	ENST00000427560	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
intron-intron	ENST00000560641	ENST00000317586	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
intron-intron	ENST00000474046	ENST00000602281	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
intron-intron	ENST00000474046	ENST00000539444	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
intron-intron	ENST00000474046	ENST00000602873	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
intron-intron	ENST00000474046	ENST00000366633	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
intron-intron	ENST00000474046	ENST00000366636	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
intron-intron	ENST00000474046	ENST00000535983	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
intron-intron	ENST00000474046	ENST00000537876	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
intron-5UTR	ENST00000474046	ENST00000366637	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
intron-5UTR	ENST00000474046	ENST00000439617	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
intron-3UTR	ENST00000474046	ENST00000427560	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
intron-intron	ENST00000474046	ENST00000317586	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
intron-intron	ENST00000485769	ENST00000602281	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
intron-intron	ENST00000485769	ENST00000539444	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
intron-intron	ENST00000485769	ENST00000602873	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
intron-intron	ENST00000485769	ENST00000366633	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
intron-intron	ENST00000485769	ENST00000366636	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
intron-intron	ENST00000485769	ENST00000535983	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
intron-intron	ENST00000485769	ENST00000537876	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
intron-5UTR	ENST00000485769	ENST00000366637	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
intron-5UTR	ENST00000485769	ENST00000439617	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
intron-3UTR	ENST00000485769	ENST00000427560	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
intron-intron	ENST00000485769	ENST00000317586	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
intron-intron	ENST00000540246	ENST00000602281	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
intron-intron	ENST00000540246	ENST00000539444	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
intron-intron	ENST00000540246	ENST00000602873	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
intron-intron	ENST00000540246	ENST00000366633	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
intron-intron	ENST00000540246	ENST00000366636	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
intron-intron	ENST00000540246	ENST00000535983	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
intron-intron	ENST00000540246	ENST00000537876	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
intron-5UTR	ENST00000540246	ENST00000366637	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
intron-5UTR	ENST00000540246	ENST00000439617	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
intron-3UTR	ENST00000540246	ENST00000427560	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
intron-intron	ENST00000540246	ENST00000317586	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+

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FusionProtFeatures for PBX1_DISC1

Main function of each fusion partner protein. (from UniProt)

Hgene	Tgene
PBX1 P40424	DISC1 Q9NRI5
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}.

Retention 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.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

- In-frame and not-retained protein feature among the 13 regional features.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

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FusionGeneSequence for PBX1_DISC1

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_DISC1

Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in
ChiPPI page
.

Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)

Hgene	Hgene's interactors	Tgene	Tgene's interactors
PBX1	MYH10, 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, ESR1	DISC1	FEZ1, ATF5, ATF7IP, COL4A1, CEP63, CCDC141, RASSF7, ITSN1, KIAA1377, TRAF3IP1, NDEL1, RANBP9, ACTN2, MAP1A, SPTBN4, SYNE1, YWHAG, CIT, KCNQ5, ATF4, EIF3H, IMMT, MEMO1, DCTN1, FBXO41, CCDC88A, KIF3C, MYT1L, SPTBN1, YWHAQ, GNB1, CEP170, KIFAP3, MACF1, CCDC24, PDE4B, SRGAP2, ARIH2, KALRN, SH3BP5, SRGAP3, TNIK, RBSN, ZNF197, FRYL, EXOC1, SPARCL1, STX18, DPYSL3, KIF3A, MATR3, TRIO, CEP57L1, CDC5L, DST, TIAM2, TUBB, TUBB2A, UTRN, AKAP9, CCDC136, EXOC4, CLU, DPYSL2, SYBU, NEFM, RAD21, TNKS, YWHAZ, AGTPBP1, OLFM1, RABGAP1, SMC2, SPTAN1, SMC3, MLLT10, XPNPEP1, ZNF365, DMD, GPRASP2, PGK1, NUP160, BICD1, DCTN2, GNPTAB, AKAP6, PCNXL4, C14orf166, DYNC1H1, SNX6, HERC2P2, ROGDI, ACTG1, CDK5RAP3, DNAJC7, EXOC7, IFT20, KANSL1, PAFAH1B1, PPM1E, SMARCE1, YWHAE, PPP4R1, EEF2, PPP5C, XRN2, MPPED1, TFIP11, SRR, BZRAP1, NDE1, MVP, C17orf59, TCL1B, MYH7, STX11, RIBC1, SKP2, P4HA2, DYNC1I1, CDC16, P4HA3, MYF6, ASB3, CRYBA4, CELA1, FBXW7, GSK3B

- Retained PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

- Retained PPIs, but lost function due to frame-shift fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

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RelatedDrugs for PBX1_DISC1

Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)

Partner

Gene

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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RelatedDiseases for PBX1_DISC1

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Hgene	PBX1	C0006413	Burkitt Lymphoma	2	CTD_human
Hgene	PBX1	C0236969	Substance-Related Disorders	1	CTD_human
Tgene	DISC1	C0005586	Bipolar Disorder	5	PSYGENET
Tgene	DISC1	C0011570	Mental Depression	5	PSYGENET
Tgene	DISC1	C0011581	Depressive disorder	5	PSYGENET
Tgene	DISC1	C0041696	Unipolar Depression	5	PSYGENET
Tgene	DISC1	C0525045	Mood Disorders	5	PSYGENET
Tgene	DISC1	C1269683	Major Depressive Disorder	5	PSYGENET
Tgene	DISC1	C0004352	Autistic Disorder	2	CTD_human
Tgene	DISC1	C0036341	Schizophrenia	2	CTD_human
Tgene	DISC1	C0005587	Depression, Bipolar	1	PSYGENET
Tgene	DISC1	C0030193	Pain	1	CTD_human
Tgene	DISC1	C0178417	Anhedonia	1	PSYGENET
Tgene	DISC1	C0236792	Asperger Syndrome	1	CTD_human
Tgene	DISC1	C3714756	Intellectual Disability	1	CTD_human

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Fusion gene ID: 26116

FusionGeneSummary for PBX1_DISC1

FusionProtFeatures for PBX1_DISC1

FusionGeneSequence for PBX1_DISC1

FusionGenePPI for PBX1_DISC1

RelatedDrugs for PBX1_DISC1

RelatedDiseases for PBX1_DISC1