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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: 4853

FusionGeneSummary for C1orf132_TSC22D3

check button Fusion gene summary
Fusion gene informationFusion gene name: C1orf132_TSC22D3
Fusion gene ID: 4853
HgeneTgene
Gene symbol

C1orf132

TSC22D3

Gene ID

1831

Gene nameTSC22 domain family member 3
SynonymsDIP|DSIPI|GILZ|TSC-22R
Cytomap

Xq22.3

Type of geneprotein-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 protein
Modification date20180519
UniProtAcc

Q99576

Ensembl transtripts involved in fusion geneENST00000385231, ENST00000385055, 
ENST00000372390, ENST00000372397, 
ENST00000315660, ENST00000372383, 
ENST00000372384, ENST00000372382, 
ENST00000506081, ENST00000514426, 
Fusion gene scores* DoF score6 X 3 X 4=724 X 4 X 2=32
# samples 65
** MAII scorelog2(6/72*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/32*10)=0.643856189774725
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: C1orf132 [Title/Abstract] AND TSC22D3 [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
TCGALDPRADTCGA-V1-A8WN-01AC1orf132chr1

207989274

-TSC22D3chrX

106959180

-
* 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
intron-5UTRENST00000385231ENST00000372390C1orf132chr1

207989274

-TSC22D3chrX

106959180

-
intron-5UTRENST00000385231ENST00000372397C1orf132chr1

207989274

-TSC22D3chrX

106959180

-
intron-5UTRENST00000385231ENST00000315660C1orf132chr1

207989274

-TSC22D3chrX

106959180

-
intron-5UTRENST00000385231ENST00000372383C1orf132chr1

207989274

-TSC22D3chrX

106959180

-
intron-5UTRENST00000385231ENST00000372384C1orf132chr1

207989274

-TSC22D3chrX

106959180

-
intron-5UTRENST00000385231ENST00000372382C1orf132chr1

207989274

-TSC22D3chrX

106959180

-
intron-5UTRENST00000385231ENST00000506081C1orf132chr1

207989274

-TSC22D3chrX

106959180

-
intron-5UTRENST00000385231ENST00000514426C1orf132chr1

207989274

-TSC22D3chrX

106959180

-
intron-5UTRENST00000385055ENST00000372390C1orf132chr1

207989274

-TSC22D3chrX

106959180

-
intron-5UTRENST00000385055ENST00000372397C1orf132chr1

207989274

-TSC22D3chrX

106959180

-
intron-5UTRENST00000385055ENST00000315660C1orf132chr1

207989274

-TSC22D3chrX

106959180

-
intron-5UTRENST00000385055ENST00000372383C1orf132chr1

207989274

-TSC22D3chrX

106959180

-
intron-5UTRENST00000385055ENST00000372384C1orf132chr1

207989274

-TSC22D3chrX

106959180

-
intron-5UTRENST00000385055ENST00000372382C1orf132chr1

207989274

-TSC22D3chrX

106959180

-
intron-5UTRENST00000385055ENST00000506081C1orf132chr1

207989274

-TSC22D3chrX

106959180

-
intron-5UTRENST00000385055ENST00000514426C1orf132chr1

207989274

-TSC22D3chrX

106959180

-

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FusionProtFeatures for C1orf132_TSC22D3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
C1orf132

TSC22D3

Q99576

Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}. 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}.

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 C1orf132_TSC22D3


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 C1orf132_TSC22D3


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
C1orf132TSC22D3PLEKHF2, 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, AGAP3


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 C1orf132_TSC22D3


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 C1orf132_TSC22D3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneTSC22D3C0020459Hyperinsulinism1CTD_human
TgeneTSC22D3C0021364Male infertility1CTD_human
TgeneTSC22D3C0039584Testicular Diseases1CTD_human
TgeneTSC22D3C1262477Weight decreased1CTD_human