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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: 33883

FusionGeneSummary for SIN3A_PTPN9

check button Fusion gene summary
Fusion gene informationFusion gene name: SIN3A_PTPN9
Fusion gene ID: 33883
HgeneTgene
Gene symbol

SIN3A

PTPN9

Gene ID

25942

5780

Gene nameSIN3 transcription regulator family member Aprotein tyrosine phosphatase, non-receptor type 9
SynonymsWITKOSMEG2|PTPMEG2
Cytomap

15q24.2

15q24.2

Type of geneprotein-codingprotein-coding
Descriptionpaired amphipathic helix protein Sin3aSIN3 homolog A, transcription regulatorhistone deacetylase complex subunit Sin3atranscriptional co-repressor Sin3Atranscriptional corepressor Sin3atranscriptional regulator, SIN3Atyrosine-protein phosphatase non-receptor type 9PTPase-MEG2protein-tyrosine phosphatase MEG2
Modification date2018052320180520
UniProtAcc

Q96ST3

P43378

Ensembl transtripts involved in fusion geneENST00000394947, ENST00000360439, 
ENST00000394949, ENST00000567289, 
ENST00000306726, ENST00000564970, 
Fusion gene scores* DoF score10 X 6 X 6=3603 X 3 X 3=27
# samples 113
** MAII scorelog2(11/360*10)=-1.71049338280502
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: SIN3A [Title/Abstract] AND PTPN9 [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
TgenePTPN9

GO:0010977

negative regulation of neuron projection development

27655914

TgenePTPN9

GO:0035335

peptidyl-tyrosine dephosphorylation

27655914

TgenePTPN9

GO:1903078

positive regulation of protein localization to plasma membrane

27655914


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
TCGARVLGGTCGA-CS-5396-01ASIN3Achr15

75722528

-PTPN9chr15

75819602

-
* 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-shitENST00000394947ENST00000306726SIN3Achr15

75722528

-PTPN9chr15

75819602

-
5CDS-intronENST00000394947ENST00000564970SIN3Achr15

75722528

-PTPN9chr15

75819602

-
Frame-shitENST00000360439ENST00000306726SIN3Achr15

75722528

-PTPN9chr15

75819602

-
5CDS-intronENST00000360439ENST00000564970SIN3Achr15

75722528

-PTPN9chr15

75819602

-
Frame-shitENST00000394949ENST00000306726SIN3Achr15

75722528

-PTPN9chr15

75819602

-
5CDS-intronENST00000394949ENST00000564970SIN3Achr15

75722528

-PTPN9chr15

75819602

-
Frame-shitENST00000567289ENST00000306726SIN3Achr15

75722528

-PTPN9chr15

75819602

-
5CDS-intronENST00000567289ENST00000564970SIN3Achr15

75722528

-PTPN9chr15

75819602

-

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FusionProtFeatures for SIN3A_PTPN9


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SIN3A

Q96ST3

PTPN9

P43378

Acts as a transcriptional repressor. Corepressor forREST. Interacts with MXI1 to repress MYC responsive genes andantagonize MYC oncogenic activities. Also interacts with MXD1-MAXheterodimers to repress transcription by tethering SIN3A to DNA.Acts cooperatively with OGT to repress transcription in parallelwith histone deacetylation. Involved in he control of thecircadian rhythms. Required for the transcriptional repression ofcircadian target genes, such as PER1, mediated by the large PERcomplex through histone deacetylation. Cooperates with FOXK1 toregulate cell cycle progression probably by repressing cell cycleinhibitor genes expression (By similarity).{ECO:0000250|UniProtKB:Q60520, ECO:0000269|PubMed:12150998}. Protein-tyrosine phosphatase that could participate inthe transfer of hydrophobic ligands or in functions of the Golgiapparatus. {ECO:0000269|PubMed:19167335}.

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 SIN3A_PTPN9


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 SIN3A_PTPN9


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
SIN3AMBD3L1, HDAC9, IKZF1, HCFC1, DNMT3B, HDAC1, HDAC2, MTA2, MTA1, ARID4B, SUDS3, SAP30, SAP130, PTMA, EFCAB6, SETDB1, MORF4, PFN2, MORF4L2, RBPJ, SNW1, KDM1A, PML, NCOR1, SKI, SMARCB1, SMARCA4, SMARCA2, SMARCC1, PHB, RBBP4, RBBP7, SAP18, HBP1, MXD1, KLF11, KLF16, KLF13, KLF9, KLF10, ZBTB16, CABIN1, NCOR2, SATB1, PHF12, IKZF3, IKZF2, IKZF4, MBD2, ING1, HEY2, COPS2, BCL6, RLIM, TAL1, RUNX1T1, MNT, MXD3, OGT, MECP2, MBD4, ING2, WHSC1, SFPQ, ZBTB7A, MKX, NR4A2, GPS2, TBL1X, HDAC4, HSP90AA1, NR0B2, ADD1, ESR1, HDAC5, SAP30L, ID2, MGEA5, SAP25, NKX3-2, PRMT5, SMARCE1, MEN1, PA2G4, SMARCA5, NFX1, CBFA2T2, BCL6B, TAF1, CHD3, SMARCC2, ALL1, TAF6, TBP, MBD3, TAF9, RAN, TFCP2, CYP4V2, NKX2-2, TGIF1, ZBTB4, PFDN5, SPI1, KLF1, SP1, ETV6, SMAD3, ARID4A, SYT1, CTCF, TP53, REST, SKIL, CHD4, MYB, TRIM28, SMN1, RUNX1, CSNK2A1, TOPORS, E2F4, MAF, TADA2A, IRF5, MORF4L1, THAP11, KMT2A, NONO, SMARCAD1, SOX2, DACH1, KDM2B, HINT1, LAMTOR5, NR2C1, ISG15, BRMS1L, GRK5, AR, TAB2, SNCA, SLC9A3R2, S100A10, SEPT11, PDLIM5, ACO2, TOM1L2, SEC22B, NOTCH2, THADA, TTLL12, AHCYL1, SF1, IGBP1, EPAS1, BRMS1, BHLHE40, STAT3, MAD1L1, SHFM1, HIF1A, DDB1, CUL4B, CHFR, NXF1, HIST3H3, LOXL2, EED, EDA, LACC1, MIER2, UNK, NTRK1, GTF2E2, CAB39, CSNK2A2, DDX46, FUBP1, KHSRP, PIR, VAPA, TCF20, SIN3B, SNAI1, MAX, FOXK1, FOXK2, FBXW7, KMT2E, NANOG, POU5F1, GATAD1, FAM60A, ZNF704, PHF23, DDX41, TFAP4, MDK, TRIM25PTPN9RTN3, GHR, MYC, TP53BP1, VCP, AGTRAP, REEP6, MAL2, CMTM5, ENO1, MOV10, NXF1, NTRK1, CREB3, LZTR1, PC, EYA1, RAD51C, FAM26D, VSIG8, C5AR2, MDK, PDCD1, PTPN9, GEMIN8, FSIP1, SMN1, DDX20, GEMIN4, PMPCA, SLC39A7, STRAP, TUBA3C, AAR2, SMN2, TUBA3D, 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 SIN3A_PTPN9


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 SIN3A_PTPN9


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSIN3AC0013336Dwarfism1CTD_human
HgeneSIN3AC0020255Hydrocephalus1CTD_human
HgeneSIN3AC0025958Microcephaly1CTD_human
HgeneSIN3AC0175754Agenesis of corpus callosum1CTD_human
HgeneSIN3AC0376634Craniofacial Abnormalities1CTD_human
HgeneSIN3AC1510586Autism Spectrum Disorders1CTD_human
HgeneSIN3AC3714756Intellectual Disability1CTD_human;HPO