FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact
Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 26124

FusionGeneSummary for PBX1_SLC30A10

check button Fusion gene summary
Fusion gene informationFusion gene name: PBX1_SLC30A10
Fusion gene ID: 26124
HgeneTgene
Gene symbol

PBX1

SLC30A10

Gene ID

5087

55532

Gene namePBX homeobox 1solute carrier family 30 member 10
SynonymsCAKUHEDHMDPC|HMNDYT1|ZNT10|ZNT8|ZRC1|ZnT-10
Cytomap

1q23.3

1q41

Type of geneprotein-codingprotein-coding
Descriptionpre-B-cell leukemia transcription factor 1homeobox protein PBX1homeobox protein PRLpre-B-cell leukemia homeobox 1zinc transporter 10manganese transporter SLC30A10zinc transporter 8
Modification date2018051920180523
UniProtAcc

P40424

Q6XR72

Ensembl transtripts involved in fusion geneENST00000420696, ENST00000401534, 
ENST00000559240, ENST00000367897, 
ENST00000540236, ENST00000560641, 
ENST00000474046, ENST00000485769, 
ENST00000540246, 		ENST00000484079, 
ENST00000366926, ENST00000536446, 
ENST00000536992, 
Fusion gene scores* DoF score13 X 6 X 3=2341 X 1 X 1=1
# samples 151
** MAII scorelog2(15/234*10)=-0.641546029087524
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(1/1*10)=3.32192809488736
Context

PubMed: PBX1 [Title/Abstract] AND SLC30A10 [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
TgeneSLC30A10

GO:0007173

epidermal growth factor receptor signaling pathway

26728129

TgeneSLC30A10

GO:0070374

positive regulation of ERK1 and ERK2 cascade

26728129

TgeneSLC30A10

GO:0071421

manganese ion transmembrane transport

25319704

TgeneSLC30A10

GO:0071579

regulation of zinc ion transport

22427991|26728129

TgeneSLC30A10

GO:1903427

negative regulation of reactive oxygen species biosynthetic process

22427991

TgeneSLC30A10

GO:1904385

cellular response to angiotensin

22427991

TgeneSLC30A10

GO:1905802

regulation of cellular response to manganese ion

25319704

TgeneSLC30A10

GO:2000773

negative regulation of cellular senescence

22427991


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
TCGALDBRCATCGA-A8-A07C-01APBX1chr1

164532548

+SLC30A10chr1

219859074

-
* 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-intronENST00000420696ENST00000484079PBX1chr1

164532548

+SLC30A10chr1

219859074

-
5CDS-intronENST00000420696ENST00000366926PBX1chr1

164532548

+SLC30A10chr1

219859074

-
5CDS-intronENST00000420696ENST00000536446PBX1chr1

164532548

+SLC30A10chr1

219859074

-
5CDS-intronENST00000420696ENST00000536992PBX1chr1

164532548

+SLC30A10chr1

219859074

-
5CDS-intronENST00000401534ENST00000484079PBX1chr1

164532548

+SLC30A10chr1

219859074

-
5CDS-intronENST00000401534ENST00000366926PBX1chr1

164532548

+SLC30A10chr1

219859074

-
5CDS-intronENST00000401534ENST00000536446PBX1chr1

164532548

+SLC30A10chr1

219859074

-
5CDS-intronENST00000401534ENST00000536992PBX1chr1

164532548

+SLC30A10chr1

219859074

-
5CDS-intronENST00000559240ENST00000484079PBX1chr1

164532548

+SLC30A10chr1

219859074

-
5CDS-intronENST00000559240ENST00000366926PBX1chr1

164532548

+SLC30A10chr1

219859074

-
5CDS-intronENST00000559240ENST00000536446PBX1chr1

164532548

+SLC30A10chr1

219859074

-
5CDS-intronENST00000559240ENST00000536992PBX1chr1

164532548

+SLC30A10chr1

219859074

-
5CDS-intronENST00000367897ENST00000484079PBX1chr1

164532548

+SLC30A10chr1

219859074

-
5CDS-intronENST00000367897ENST00000366926PBX1chr1

164532548

+SLC30A10chr1

219859074

-
5CDS-intronENST00000367897ENST00000536446PBX1chr1

164532548

+SLC30A10chr1

219859074

-
5CDS-intronENST00000367897ENST00000536992PBX1chr1

164532548

+SLC30A10chr1

219859074

-
5CDS-intronENST00000540236ENST00000484079PBX1chr1

164532548

+SLC30A10chr1

219859074

-
5CDS-intronENST00000540236ENST00000366926PBX1chr1

164532548

+SLC30A10chr1

219859074

-
5CDS-intronENST00000540236ENST00000536446PBX1chr1

164532548

+SLC30A10chr1

219859074

-
5CDS-intronENST00000540236ENST00000536992PBX1chr1

164532548

+SLC30A10chr1

219859074

-
intron-intronENST00000560641ENST00000484079PBX1chr1

164532548

+SLC30A10chr1

219859074

-
intron-intronENST00000560641ENST00000366926PBX1chr1

164532548

+SLC30A10chr1

219859074

-
intron-intronENST00000560641ENST00000536446PBX1chr1

164532548

+SLC30A10chr1

219859074

-
intron-intronENST00000560641ENST00000536992PBX1chr1

164532548

+SLC30A10chr1

219859074

-
intron-intronENST00000474046ENST00000484079PBX1chr1

164532548

+SLC30A10chr1

219859074

-
intron-intronENST00000474046ENST00000366926PBX1chr1

164532548

+SLC30A10chr1

219859074

-
intron-intronENST00000474046ENST00000536446PBX1chr1

164532548

+SLC30A10chr1

219859074

-
intron-intronENST00000474046ENST00000536992PBX1chr1

164532548

+SLC30A10chr1

219859074

-
intron-intronENST00000485769ENST00000484079PBX1chr1

164532548

+SLC30A10chr1

219859074

-
intron-intronENST00000485769ENST00000366926PBX1chr1

164532548

+SLC30A10chr1

219859074

-
intron-intronENST00000485769ENST00000536446PBX1chr1

164532548

+SLC30A10chr1

219859074

-
intron-intronENST00000485769ENST00000536992PBX1chr1

164532548

+SLC30A10chr1

219859074

-
intron-intronENST00000540246ENST00000484079PBX1chr1

164532548

+SLC30A10chr1

219859074

-
intron-intronENST00000540246ENST00000366926PBX1chr1

164532548

+SLC30A10chr1

219859074

-
intron-intronENST00000540246ENST00000536446PBX1chr1

164532548

+SLC30A10chr1

219859074

-
intron-intronENST00000540246ENST00000536992PBX1chr1

164532548

+SLC30A10chr1

219859074

-

Top

FusionProtFeatures for PBX1_SLC30A10


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

P40424

SLC30A10

Q6XR72

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}. Plays a pivotal role in manganese transport. Manganeseis an essential cation for the function of several enzymes,including some crucially important for the metabolism ofneurotransmitters and other neuronal metabolic pathways. However,elevated levels of manganese are cytotoxic and induce oxidativestress, mitochondrial dysfunction and apoptosis. Acts as manganeseefflux transporter and confers protection against manganese-induced cell death (PubMed:22341972, PubMed:22341971,PubMed:25319704, PubMed:27226609, PubMed:27307044). Also acts aszinc transporter involved in zinc homeostasis. Seems to mediatezinc transport into early endosomes and recycling endosomes toprevent zinc toxicity; the function may be regulated byheterodimerization with other zinc transporters of the SLC30Asubfamily. The SLC30A3:SLC30A10 heterodimer is involved in zinctransport-dependent regulation of the EGFR/ERK transductionpathway in endosomes. May be involved in regulation of zinc-dependent senescence of vascular smooth muscle cells(PubMed:22706290, PubMed:22427991, PubMed:26728129).{ECO:0000269|PubMed:22341971, ECO:0000269|PubMed:22341972,ECO:0000269|PubMed:22427991, ECO:0000269|PubMed:25319704,ECO:0000269|PubMed:27226609, ECO:0000305|PubMed:22706290}.

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


Top

FusionGeneSequence for PBX1_SLC30A10


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).

Top

FusionGenePPI for PBX1_SLC30A10


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, ESR1SLC30A10


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


Top

RelatedDrugs for PBX1_SLC30A10


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

RelatedDiseases for PBX1_SLC30A10


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePBX1C0006413Burkitt Lymphoma2CTD_human
HgenePBX1C0236969Substance-Related Disorders1CTD_human
TgeneSLC30A10C2750442Hypermanganesemia with Dystonia Polycythemia and Cirrhosis3CTD_human;ORPHANET;UNIPROT
TgeneSLC30A10C0013421Dystonia1CTD_human;HPO
TgeneSLC30A10C0023890Liver Cirrhosis1CTD_human;HPO
TgeneSLC30A10C0030567Parkinson Disease1CTD_human
TgeneSLC30A10C0032461Polycythemia1CTD_human;HPO
TgeneSLC30A10C0242422Parkinsonian Disorders1CTD_human;HPO