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: 8722

FusionGeneSummary for CTBP1_FAM193A

check button Fusion gene summary
Fusion gene informationFusion gene name: CTBP1_FAM193A
Fusion gene ID: 8722
HgeneTgene
Gene symbol

CTBP1

FAM193A

Gene ID

1487

8603

Gene nameC-terminal binding protein 1family with sequence similarity 193 member A
SynonymsBARS|HADDTSC4orf8|RES4-22
Cytomap

4p16.3

4p16.3

Type of geneprotein-codingprotein-coding
DescriptionC-terminal-binding protein 1brefeldin A-ribosylated substrateprotein FAM193A
Modification date2018052220180519
UniProtAcc

Q13363

P78312

Ensembl transtripts involved in fusion geneENST00000382952, ENST00000290921, 
ENST00000510568, ENST00000515690, 
ENST00000545951, ENST00000382839, 
ENST00000324666, ENST00000502458, 
ENST00000505311, 
Fusion gene scores* DoF score5 X 4 X 4=805 X 4 X 5=100
# samples 56
** MAII scorelog2(5/80*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/100*10)=-0.736965594166206
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CTBP1 [Title/Abstract] AND FAM193A [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
TCGALDLGGTCGA-P5-A5EZ-01ACTBP1chr4

1231971

-FAM193Achr4

2626989

+
* 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-intronENST00000382952ENST00000545951CTBP1chr4

1231971

-FAM193Achr4

2626989

+
5CDS-intronENST00000382952ENST00000382839CTBP1chr4

1231971

-FAM193Achr4

2626989

+
5CDS-intronENST00000382952ENST00000324666CTBP1chr4

1231971

-FAM193Achr4

2626989

+
5CDS-intronENST00000382952ENST00000502458CTBP1chr4

1231971

-FAM193Achr4

2626989

+
5CDS-intronENST00000382952ENST00000505311CTBP1chr4

1231971

-FAM193Achr4

2626989

+
5CDS-intronENST00000290921ENST00000545951CTBP1chr4

1231971

-FAM193Achr4

2626989

+
5CDS-intronENST00000290921ENST00000382839CTBP1chr4

1231971

-FAM193Achr4

2626989

+
5CDS-intronENST00000290921ENST00000324666CTBP1chr4

1231971

-FAM193Achr4

2626989

+
5CDS-intronENST00000290921ENST00000502458CTBP1chr4

1231971

-FAM193Achr4

2626989

+
5CDS-intronENST00000290921ENST00000505311CTBP1chr4

1231971

-FAM193Achr4

2626989

+
intron-intronENST00000510568ENST00000545951CTBP1chr4

1231971

-FAM193Achr4

2626989

+
intron-intronENST00000510568ENST00000382839CTBP1chr4

1231971

-FAM193Achr4

2626989

+
intron-intronENST00000510568ENST00000324666CTBP1chr4

1231971

-FAM193Achr4

2626989

+
intron-intronENST00000510568ENST00000502458CTBP1chr4

1231971

-FAM193Achr4

2626989

+
intron-intronENST00000510568ENST00000505311CTBP1chr4

1231971

-FAM193Achr4

2626989

+
5UTR-intronENST00000515690ENST00000545951CTBP1chr4

1231971

-FAM193Achr4

2626989

+
5UTR-intronENST00000515690ENST00000382839CTBP1chr4

1231971

-FAM193Achr4

2626989

+
5UTR-intronENST00000515690ENST00000324666CTBP1chr4

1231971

-FAM193Achr4

2626989

+
5UTR-intronENST00000515690ENST00000502458CTBP1chr4

1231971

-FAM193Achr4

2626989

+
5UTR-intronENST00000515690ENST00000505311CTBP1chr4

1231971

-FAM193Achr4

2626989

+

Top

FusionProtFeatures for CTBP1_FAM193A


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CTBP1

Q13363

FAM193A

P78312

Corepressor targeting diverse transcription regulatorssuch as GLIS2 or BCL6. Has dehydrogenase activity. Involved incontrolling the equilibrium between tubular and stacked structuresin the Golgi complex. Functions in brown adipose tissue (BAT)differentiation. {ECO:0000269|PubMed:12419229,ECO:0000269|PubMed:15542832, ECO:0000269|PubMed:18212045,ECO:0000269|PubMed:19103759, ECO:0000269|PubMed:9858600}.

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 CTBP1_FAM193A


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 CTBP1_FAM193A


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
CTBP1PNN, IKZF1, SMAD6, RBBP8, TGIF1, NRIP1, MDM2, HDAC1, HDAC3, HDAC4, HDAC5, HDAC9, BRCA1, HDAC2, KAT2B, GEMIN2, TBP, GTF2B, FOXP1, FOXP2, KMT2A, CBX4, MECOM, IKZF4, CTBP2, ZEB1, ACTL6B, HTT, TBL1X, ZNF217, RCOR1, SATB1, CTBP1, TCF4, LCOR, TP53, HIC1, EHMT2, EHMT1, WIZ, APC, PLK1, TUBG1, HSD11B2, TCF7L2, KDM1A, CREBBP, EP300, KAT2A, SP1, RREB1, CDYL, UBE2I, BCORL1, SERPINH1, BCL3, AKT1, HIST3H3, SPEN, ZBP1, SOBP, ZNF219, LCORL, CHD3, RBBP5, CTNNA1, SOX2, ELAVL1, ZEB2, TERF2IP, TERF2, TFAP4, ATXN1L, BCL6, NCOR2, ECT2, CTNNB1, KLF4, DNMT1, RUNX1, BAG3, THAP11, HEMGN, NME2, ORC4, ARNT2, NOL4L, KLF12, MARCH10, CDC23, FUNDC1, IKZF2, KLF3, LNX1, PIAS2, RAI2, RNF111, ZBTB18, CEP68, NOL4, DGCR6, SNRPN, CRY2, HOXB5, PRKAA1, MAPK9, PLCB1, BCAS3, TSHZ3, DMRTB1, EGFR, HIC2, PRDM2, ZNF516, DYRK1A, TRPS1, C10orf12, BCOR, FBXO11, RCOR2, RCOR3, C2orf44, RBL1, INA, RB1, E2F7, TRMT61B, FOXK1, C15orf39, AMPD2, TOR2A, ADSS, ATIC, CARM1, CTH, ECHS1, FKBP1A, GAPDH, DUT, HYI, SSNA1, WDR1, NTRK1, MED23, OFD1, FBF1, KCNIP3, KLF8, NFATC1, NFATC2, MTMR7, RBM14-RBM4, IGFBP1, CHD4, NISCH, KIAA0430, HELZ, PCGF5, SOWAHA, PAN2, EIF4ENIF1, FANCC, FANCA, FANCF, FANCG, FANCL, FANCE, FANCD2, TRIM25FAM193AANKRD28, MDM4


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 CTBP1_FAM193A


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 CTBP1_FAM193A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCTBP1C0009404Colorectal Neoplasms1CTD_human