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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: 29099

FusionGeneSummary for PSIP1_TBL1X

check button Fusion gene summary
Fusion gene informationFusion gene name: PSIP1_TBL1X
Fusion gene ID: 29099
HgeneTgene
Gene symbol

PSIP1

TBL1X

Gene ID

11168

6907

Gene namePC4 and SFRS1 interacting protein 1transducin beta like 1 X-linked
SynonymsDFS70|LEDGF|PAIP|PSIP2|p52|p75EBI|SMAP55|TBL1
Cytomap

9p22.3

Xp22.31-p22.2

Type of geneprotein-codingprotein-coding
DescriptionPC4 and SFRS1-interacting proteinCLL-associated antigen KW-7dense fine speckles 70 kDa proteinlens epithelium-derived growth factortranscriptional coactivator p52/p75F-box-like/WD repeat-containing protein TBL1Xtransducin beta like 1X-linkedtransducin beta-like protein 1Xtransducin-beta-like protein 1, X-linked
Modification date2018051920180523
UniProtAcc

O75475

O60907

Ensembl transtripts involved in fusion geneENST00000380738, ENST00000380733, 
ENST00000380715, ENST00000380716, 
ENST00000397519, ENST00000484265, 
ENST00000407597, ENST00000424279, 
ENST00000536365, ENST00000380961, 
ENST00000217964, ENST00000497555, 
Fusion gene scores* DoF score3 X 3 X 2=187 X 8 X 2=112
# samples 38
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(8/112*10)=-0.485426827170242
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PSIP1 [Title/Abstract] AND TBL1X [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
HgenePSIP1

GO:0000395

mRNA 5'-splice site recognition

9885563

TgeneTBL1X

GO:0000122

negative regulation of transcription by RNA polymerase II

12628926

TgeneTBL1X

GO:0045893

positive regulation of transcription, DNA-templated

18193033

TgeneTBL1X

GO:0045944

positive regulation of transcription by RNA polymerase II

18193033


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
TCGARVPCPGTCGA-QT-A5XJ-01APSIP1chr9

15486004

-TBL1XchrX

9621585

+
* 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-5UTRENST00000380738ENST00000407597PSIP1chr9

15486004

-TBL1XchrX

9621585

+
5CDS-intronENST00000380738ENST00000424279PSIP1chr9

15486004

-TBL1XchrX

9621585

+
5CDS-5UTRENST00000380738ENST00000536365PSIP1chr9

15486004

-TBL1XchrX

9621585

+
5CDS-intronENST00000380738ENST00000380961PSIP1chr9

15486004

-TBL1XchrX

9621585

+
5CDS-5UTRENST00000380738ENST00000217964PSIP1chr9

15486004

-TBL1XchrX

9621585

+
5CDS-intronENST00000380738ENST00000497555PSIP1chr9

15486004

-TBL1XchrX

9621585

+
5CDS-5UTRENST00000380733ENST00000407597PSIP1chr9

15486004

-TBL1XchrX

9621585

+
5CDS-intronENST00000380733ENST00000424279PSIP1chr9

15486004

-TBL1XchrX

9621585

+
5CDS-5UTRENST00000380733ENST00000536365PSIP1chr9

15486004

-TBL1XchrX

9621585

+
5CDS-intronENST00000380733ENST00000380961PSIP1chr9

15486004

-TBL1XchrX

9621585

+
5CDS-5UTRENST00000380733ENST00000217964PSIP1chr9

15486004

-TBL1XchrX

9621585

+
5CDS-intronENST00000380733ENST00000497555PSIP1chr9

15486004

-TBL1XchrX

9621585

+
5CDS-5UTRENST00000380715ENST00000407597PSIP1chr9

15486004

-TBL1XchrX

9621585

+
5CDS-intronENST00000380715ENST00000424279PSIP1chr9

15486004

-TBL1XchrX

9621585

+
5CDS-5UTRENST00000380715ENST00000536365PSIP1chr9

15486004

-TBL1XchrX

9621585

+
5CDS-intronENST00000380715ENST00000380961PSIP1chr9

15486004

-TBL1XchrX

9621585

+
5CDS-5UTRENST00000380715ENST00000217964PSIP1chr9

15486004

-TBL1XchrX

9621585

+
5CDS-intronENST00000380715ENST00000497555PSIP1chr9

15486004

-TBL1XchrX

9621585

+
5CDS-5UTRENST00000380716ENST00000407597PSIP1chr9

15486004

-TBL1XchrX

9621585

+
5CDS-intronENST00000380716ENST00000424279PSIP1chr9

15486004

-TBL1XchrX

9621585

+
5CDS-5UTRENST00000380716ENST00000536365PSIP1chr9

15486004

-TBL1XchrX

9621585

+
5CDS-intronENST00000380716ENST00000380961PSIP1chr9

15486004

-TBL1XchrX

9621585

+
5CDS-5UTRENST00000380716ENST00000217964PSIP1chr9

15486004

-TBL1XchrX

9621585

+
5CDS-intronENST00000380716ENST00000497555PSIP1chr9

15486004

-TBL1XchrX

9621585

+
5CDS-5UTRENST00000397519ENST00000407597PSIP1chr9

15486004

-TBL1XchrX

9621585

+
5CDS-intronENST00000397519ENST00000424279PSIP1chr9

15486004

-TBL1XchrX

9621585

+
5CDS-5UTRENST00000397519ENST00000536365PSIP1chr9

15486004

-TBL1XchrX

9621585

+
5CDS-intronENST00000397519ENST00000380961PSIP1chr9

15486004

-TBL1XchrX

9621585

+
5CDS-5UTRENST00000397519ENST00000217964PSIP1chr9

15486004

-TBL1XchrX

9621585

+
5CDS-intronENST00000397519ENST00000497555PSIP1chr9

15486004

-TBL1XchrX

9621585

+
intron-5UTRENST00000484265ENST00000407597PSIP1chr9

15486004

-TBL1XchrX

9621585

+
intron-intronENST00000484265ENST00000424279PSIP1chr9

15486004

-TBL1XchrX

9621585

+
intron-5UTRENST00000484265ENST00000536365PSIP1chr9

15486004

-TBL1XchrX

9621585

+
intron-intronENST00000484265ENST00000380961PSIP1chr9

15486004

-TBL1XchrX

9621585

+
intron-5UTRENST00000484265ENST00000217964PSIP1chr9

15486004

-TBL1XchrX

9621585

+
intron-intronENST00000484265ENST00000497555PSIP1chr9

15486004

-TBL1XchrX

9621585

+

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FusionProtFeatures for PSIP1_TBL1X


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PSIP1

O75475

TBL1X

O60907

Transcriptional coactivator involved in neuroepithelialstem cell differentiation and neurogenesis. Involved in particularin lens epithelial cell gene regulation and stress responses. Mayplay an important role in lens epithelial to fiber cell terminaldifferentiation. May play a protective role during stress-inducedapoptosis. Isoform 2 is a more general and strongertranscriptional coactivator. Isoform 2 may also act as an adapterto coordinate pre-mRNA splicing. Cellular cofactor for lentiviralintegration. {ECO:0000269|PubMed:15642333}. F-box-like protein involved in the recruitment of theubiquitin/19S proteasome complex to nuclear receptor-regulatedtranscription units (PubMed:14980219). Plays an essential role intranscription activation mediated by nuclear receptors. Probablyacts as integral component of corepressor complexes that mediatesthe recruitment of the 19S proteasome complex, leading to thesubsequent proteasomal degradation of transcription repressorcomplexes, thereby allowing cofactor exchange (PubMed:21240272).{ECO:0000269|PubMed:14980219, ECO:0000269|PubMed:21240272}.

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 PSIP1_TBL1X


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 PSIP1_TBL1X


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
PSIP1SRSF1, SP1, SUB1, BANF1, MEN1, KMT2A, MAPK6, HDGF, SH3KBP1, NCSTN, EXOSC5, CAST, RPS24, EXOSC4, RPL6, SON, FTSJ3, TRA2B, SAP18, RRS1, TPBG, ZC3H18, RPS11, THRAP3, U2AF1, EIF4A3, SUPT16H, ESR1, CSNK2A1, HMGA1, HMGA2, RPA3, RPA2, RPA1, PPP2R1A, CUL7, OBSL1, ABCE1, SCARNA22, EWSR1, NPM1, RPL10, VIM, RBPJ, FOXE1, FOXK2, POU5F1, FOXA1, SUMO1, HIST1H3ATBL1XNCOR1, NCOR2, HIST2H2BE, HIST2H4A, HIST2H2AA3, HIST2H3C, TAB2, HDAC3, HDAC5, GPS2, THRB, CACYBP, SKP1, SIAH1, CTNNB1, CTBP1, TBL1XR1, SIN3A, HR, UBE2E3, EMD, THRA, HIST1H4A, ELAVL1, NRD1, TERF1, TINF2, CDC34, UBE2D1, RELA, TBL1X, GID8, HUWE1, SNRNP40, HDAC7, DLX3, HP, KHDRBS1, DNAJB4, FKBP6, TSC22D4, SMARCD2, SMARCB1, SMARCD1, SMARCD3, XPO1, FOXK2, UBE2I, NANOG, TBL1Y, MKX, C6orf141, IL17RA, SERPINB2, LRRC36, TKT, WDR59, KLHDC3, HAO2, USP44, TRIM25


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 PSIP1_TBL1X


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 PSIP1_TBL1X


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePSIP1C0023467Leukemia, Myelocytic, Acute1CTD_human
TgeneTBL1XC1510586Autism Spectrum Disorders1CTD_human