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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: 39730

FusionGeneSummary for TSC22D3_AP3M1

check button Fusion gene summary
Fusion gene informationFusion gene name: TSC22D3_AP3M1
Fusion gene ID: 39730
HgeneTgene
Gene symbol

TSC22D3

AP3M1

Gene ID

1831

26985

Gene nameTSC22 domain family member 3adaptor related protein complex 3 subunit mu 1
SynonymsDIP|DSIPI|GILZ|TSC-22R-
Cytomap

Xq22.3

10q22.2

Type of geneprotein-codingprotein-coding
DescriptionTSC22 domain family protein 3DSIP-immunoreactive leucine zipper proteinDSIP-immunoreactive peptideTSC-22 related proteinTSC-22-like proteindelta sleep-inducing peptide immunoreactorglucocorticoid-induced leucine zipper proteinAP-3 complex subunit mu-1AP-3 adapter complex mu3A subunitadapter-related protein complex 3 mu-1 subunitadaptor related protein complex 3 mu 1 subunitclathrin adaptor complex AP3, mu-3A subunitmu-adaptin 3Amu3A-adaptin
Modification date2018051920180519
UniProtAcc

Q99576

Q9Y2T2

Ensembl transtripts involved in fusion geneENST00000372390, ENST00000372397, 
ENST00000315660, ENST00000372383, 
ENST00000372384, ENST00000372382, 
ENST00000506081, ENST00000514426, 
ENST00000355264, ENST00000372745, 
ENST00000487653, 
Fusion gene scores* DoF score5 X 6 X 2=605 X 4 X 4=80
# samples 65
** MAII scorelog2(6/60*10)=0log2(5/80*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: TSC22D3 [Title/Abstract] AND AP3M1 [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
TCGARVPRADTCGA-HC-7748-01ATSC22D3chrX

106956451

-AP3M1chr10

75898140

-
* 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-5UTRENST00000372390ENST00000355264TSC22D3chrX

106956451

-AP3M1chr10

75898140

-
5CDS-5UTRENST00000372390ENST00000372745TSC22D3chrX

106956451

-AP3M1chr10

75898140

-
5CDS-5UTRENST00000372390ENST00000487653TSC22D3chrX

106956451

-AP3M1chr10

75898140

-
5CDS-5UTRENST00000372397ENST00000355264TSC22D3chrX

106956451

-AP3M1chr10

75898140

-
5CDS-5UTRENST00000372397ENST00000372745TSC22D3chrX

106956451

-AP3M1chr10

75898140

-
5CDS-5UTRENST00000372397ENST00000487653TSC22D3chrX

106956451

-AP3M1chr10

75898140

-
5CDS-5UTRENST00000315660ENST00000355264TSC22D3chrX

106956451

-AP3M1chr10

75898140

-
5CDS-5UTRENST00000315660ENST00000372745TSC22D3chrX

106956451

-AP3M1chr10

75898140

-
5CDS-5UTRENST00000315660ENST00000487653TSC22D3chrX

106956451

-AP3M1chr10

75898140

-
5CDS-5UTRENST00000372383ENST00000355264TSC22D3chrX

106956451

-AP3M1chr10

75898140

-
5CDS-5UTRENST00000372383ENST00000372745TSC22D3chrX

106956451

-AP3M1chr10

75898140

-
5CDS-5UTRENST00000372383ENST00000487653TSC22D3chrX

106956451

-AP3M1chr10

75898140

-
5CDS-5UTRENST00000372384ENST00000355264TSC22D3chrX

106956451

-AP3M1chr10

75898140

-
5CDS-5UTRENST00000372384ENST00000372745TSC22D3chrX

106956451

-AP3M1chr10

75898140

-
5CDS-5UTRENST00000372384ENST00000487653TSC22D3chrX

106956451

-AP3M1chr10

75898140

-
intron-5UTRENST00000372382ENST00000355264TSC22D3chrX

106956451

-AP3M1chr10

75898140

-
intron-5UTRENST00000372382ENST00000372745TSC22D3chrX

106956451

-AP3M1chr10

75898140

-
intron-5UTRENST00000372382ENST00000487653TSC22D3chrX

106956451

-AP3M1chr10

75898140

-
intron-5UTRENST00000506081ENST00000355264TSC22D3chrX

106956451

-AP3M1chr10

75898140

-
intron-5UTRENST00000506081ENST00000372745TSC22D3chrX

106956451

-AP3M1chr10

75898140

-
intron-5UTRENST00000506081ENST00000487653TSC22D3chrX

106956451

-AP3M1chr10

75898140

-
intron-5UTRENST00000514426ENST00000355264TSC22D3chrX

106956451

-AP3M1chr10

75898140

-
intron-5UTRENST00000514426ENST00000372745TSC22D3chrX

106956451

-AP3M1chr10

75898140

-
intron-5UTRENST00000514426ENST00000487653TSC22D3chrX

106956451

-AP3M1chr10

75898140

-

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FusionProtFeatures for TSC22D3_AP3M1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
TSC22D3

Q99576

AP3M1

Q9Y2T2

Protects T-cells from IL2 deprivation-induced apoptosisthrough the inhibition of FOXO3A transcriptional activity thatleads to the down-regulation of the pro-apoptotic factor BCL2L11.In macrophages, plays a role in the anti-inflammatory andimmunosuppressive effects of glucocorticoids and IL10. In T-cells,inhibits anti-CD3-induced NFKB1 nuclear translocation. In vitro,suppresses AP1 and NFKB1 DNA-binding activities (By similarity).Isoform 1 inhibits myogenic differentiation and mediates anti-myogenic effects of glucocorticoids by binding and regulatingMYOD1 and HDAC1 transcriptional activity resulting in reducedexpression of MYOG (By similarity). {ECO:0000250,ECO:0000269|PubMed:15031210}. Part of the AP-3 complex, an adaptor-related complexwhich is not clathrin-associated. The complex is associated withthe Golgi region as well as more peripheral structures. Itfacilitates the budding of vesicles from the Golgi membrane andmay be directly involved in trafficking to lysosomes. In concertwith the BLOC-1 complex, AP-3 is required to target cargos intovesicles assembled at cell bodies for delivery into neurites andnerve terminals.

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 TSC22D3_AP3M1


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 TSC22D3_AP3M1


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
TSC22D3PLEKHF2, HPCAL4, RAF1, FOS, JUN, TSC22D3, NFKB1, NFKB2, MYOD1, HDAC1, HDAC2, UBC, SGK1, UBE2I, SUMO1, CASP8, PCK1, ELAVL1, SCNN1B, NEDD4L, MTA2, DCLK2, TP53, MDM2, MAD1L1, C19orf57, ENDOV, EID3, TSC22D4, ALDH3B1, FIGNL1, TSC22D2, TSC22D1, RCCD1, FAM117B, NRBP1, KIAA1683, CEP55, CDC42SE2, SIRT6, UBE3D, NUFIP2, AGAP3AP3M1VAMP7, AP3S2, WDR48, TGOLN2, GRK5, AP3D1, AP3B1, AP3S1, RABL6, PSMA1, PSMA3, PSMA4, PSMB1, PSMB3, PSMA7, PSMB5, EGFR, CRMP1, RSPH14, AGTRAP, SIPA1L2, TRIM9, RUFY1, VTI1B, HLA-DMB, IDS, AGO3, FAM9A, DTNBP1, SKAP1, PALM2, EDA, EPB41L3, UBTF, BRD4, NTRK1, MKS1, CEP152, CEP44, SCLT1, CEP19, STIL, TCTN1, TMEM17, XPO1, KIF11, MYO1C, RAP1B, VCL, AP3B2, AP3M2, FERMT2, CAMKV, PIP4K2A, RNF19B, TMEM63A, VASN, EPHA1, CD79B, LASP1


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 TSC22D3_AP3M1


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 TSC22D3_AP3M1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneTSC22D3C0020459Hyperinsulinism1CTD_human
HgeneTSC22D3C0021364Male infertility1CTD_human
HgeneTSC22D3C0039584Testicular Diseases1CTD_human
HgeneTSC22D3C1262477Weight decreased1CTD_human
TgeneAP3M1C0036341Schizophrenia1PSYGENET