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: 15535

FusionGeneSummary for GSK3B_COL8A1

check button Fusion gene summary
Fusion gene informationFusion gene name: GSK3B_COL8A1
Fusion gene ID: 15535
HgeneTgene
Gene symbol

GSK3B

COL8A1

Gene ID

2932

1295

Gene nameglycogen synthase kinase 3 betacollagen type VIII alpha 1 chain
Synonyms-C3orf7
Cytomap

3q13.33

3q12.1

Type of geneprotein-codingprotein-coding
Descriptionglycogen synthase kinase-3 betaGSK-3 betaGSK3beta isoformserine/threonine-protein kinase GSK3Bcollagen alpha-1(VIII) chaincell proliferation-inducing protein 41collagen VIII, alpha-1 polypeptidecollagen, type VIII, alpha 1endothelial collagensmag-64smooth muscle cell-expressed and macrophage conditioned medium-induced protein smag-64
Modification date2018052720180527
UniProtAcc

P49841

P27658

Ensembl transtripts involved in fusion geneENST00000264235, ENST00000316626, 
ENST00000473886, 
ENST00000261037, 
ENST00000273342, ENST00000463753, 
Fusion gene scores* DoF score24 X 16 X 8=30724 X 2 X 4=32
# samples 264
** MAII scorelog2(26/3072*10)=-3.5625946876927
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/32*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: GSK3B [Title/Abstract] AND COL8A1 [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
HgeneGSK3B

GO:0005977

glycogen metabolic process

8638126

HgeneGSK3B

GO:0006468

protein phosphorylation

11035810|16315267|20937854

HgeneGSK3B

GO:0006983

ER overload response

14744935

HgeneGSK3B

GO:0018105

peptidyl-serine phosphorylation

8638126|11104755|11955436|14744935|17139249

HgeneGSK3B

GO:0018107

peptidyl-threonine phosphorylation

11955436|17139249|25897075

HgeneGSK3B

GO:0031175

neuron projection development

19830702

HgeneGSK3B

GO:0031334

positive regulation of protein complex assembly

8638126

HgeneGSK3B

GO:0032091

negative regulation of protein binding

16890161

HgeneGSK3B

GO:0035556

intracellular signal transduction

14749367

HgeneGSK3B

GO:0043066

negative regulation of apoptotic process

14744935

HgeneGSK3B

GO:0046777

protein autophosphorylation

23184662

HgeneGSK3B

GO:0046827

positive regulation of protein export from nucleus

14744935

HgeneGSK3B

GO:0060070

canonical Wnt signaling pathway

18787224

HgeneGSK3B

GO:1901215

negative regulation of neuron death

19830702

HgeneGSK3B

GO:1901216

positive regulation of neuron death

18508033


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
TCGARVLUADTCGA-38-4631-01AGSK3Bchr3

119642220

-COL8A1chr3

99509524

+
* 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-5UTRENST00000264235ENST00000261037GSK3Bchr3

119642220

-COL8A1chr3

99509524

+
5CDS-5UTRENST00000264235ENST00000273342GSK3Bchr3

119642220

-COL8A1chr3

99509524

+
5CDS-intronENST00000264235ENST00000463753GSK3Bchr3

119642220

-COL8A1chr3

99509524

+
5CDS-5UTRENST00000316626ENST00000261037GSK3Bchr3

119642220

-COL8A1chr3

99509524

+
5CDS-5UTRENST00000316626ENST00000273342GSK3Bchr3

119642220

-COL8A1chr3

99509524

+
5CDS-intronENST00000316626ENST00000463753GSK3Bchr3

119642220

-COL8A1chr3

99509524

+
intron-5UTRENST00000473886ENST00000261037GSK3Bchr3

119642220

-COL8A1chr3

99509524

+
intron-5UTRENST00000473886ENST00000273342GSK3Bchr3

119642220

-COL8A1chr3

99509524

+
intron-intronENST00000473886ENST00000463753GSK3Bchr3

119642220

-COL8A1chr3

99509524

+

Top

FusionProtFeatures for GSK3B_COL8A1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
GSK3B

P49841

COL8A1

P27658

Constitutively active protein kinase that acts as anegative regulator in the hormonal control of glucose homeostasis,Wnt signaling and regulation of transcription factors andmicrotubules, by phosphorylating and inactivating glycogensynthase (GYS1 or GYS2), EIF2B, CTNNB1/beta-catenin, APC, AXIN1,DPYSL2/CRMP2, JUN, NFATC1/NFATC, MAPT/TAU and MACF1. Requiresprimed phosphorylation of the majority of its substrates. Inskeletal muscle, contributes to insulin regulation of glycogensynthesis by phosphorylating and inhibiting GYS1 activity andhence glycogen synthesis. May also mediate the development ofinsulin resistance by regulating activation of transcriptionfactors. Regulates protein synthesis by controlling the activityof initiation factor 2B (EIF2BE/EIF2B5) in the same manner asglycogen synthase. In Wnt signaling, GSK3B forms a multimericcomplex with APC, AXIN1 and CTNNB1/beta-catenin and phosphorylatesthe N-terminus of CTNNB1 leading to its degradation mediated byubiquitin/proteasomes. Phosphorylates JUN at sites proximal to itsDNA-binding domain, thereby reducing its affinity for DNA.Phosphorylates NFATC1/NFATC on conserved serine residues promotingNFATC1/NFATC nuclear export, shutting off NFATC1/NFATC generegulation, and thereby opposing the action of calcineurin.Phosphorylates MAPT/TAU on 'Thr-548', decreasing significantlyMAPT/TAU ability to bind and stabilize microtubules. MAPT/TAU isthe principal component of neurofibrillary tangles in Alzheimerdisease. Plays an important role in ERBB2-dependent stabilizationof microtubules at the cell cortex. Phosphorylates MACF1,inhibiting its binding to microtubules which is critical for itsrole in bulge stem cell migration and skin wound repair. Probablyregulates NF-kappa-B (NFKB1) at the transcriptional level and isrequired for the NF-kappa-B-mediated anti-apoptotic response toTNF-alpha (TNF/TNFA). Negatively regulates replication inpancreatic beta-cells, resulting in apoptosis, loss of beta-cellsand diabetes. Through phosphorylation of the anti-apoptoticprotein MCL1, may control cell apoptosis in response to growthfactors deprivation. Phosphorylates MUC1 in breast cancer cells,decreasing the interaction of MUC1 with CTNNB1/beta-catenin. Isnecessary for the establishment of neuronal polarity and axonoutgrowth. Phosphorylates MARK2, leading to inhibit its activity.Phosphorylates SIK1 at 'Thr-182', leading to sustain its activity.Phosphorylates ZC3HAV1 which enhances its antiviral activity.Phosphorylates SNAI1, leading to its BTRC-triggered ubiquitinationand proteasomal degradation. Phosphorylates SFPQ at 'Thr-687' uponT-cell activation. Phosphorylates NR1D1 st 'Ser-55' and 'Ser-59'and stabilizes it by protecting it from proteasomal degradation.Regulates the circadian clock via phosphorylation of the majorclock components including ARNTL/BMAL1, CLOCK and PER2.Phosphorylates CLOCK AT 'Ser-427' and targets it for proteasomaldegradation. Phosphorylates ARNTL/BMAL1 at 'Ser-17' and 'Ser-21'and primes it for ubiquitination and proteasomal degradation.Phosphorylates OGT at 'Ser-3' or 'Ser-4' which positivelyregulates its activity. Phosphorylates MYCN in neuroblastoma cellswhich may promote its degradation (PubMed:24391509).{ECO:0000269|PubMed:11430833, ECO:0000269|PubMed:12554650,ECO:0000269|PubMed:14690523, ECO:0000269|PubMed:15448698,ECO:0000269|PubMed:15647282, ECO:0000269|PubMed:16484495,ECO:0000269|PubMed:18348280, ECO:0000269|PubMed:1846781,ECO:0000269|PubMed:19946213, ECO:0000269|PubMed:20932480,ECO:0000269|PubMed:20937854, ECO:0000269|PubMed:22514281,ECO:0000269|PubMed:24391509, ECO:0000269|PubMed:8397507,ECO:0000269|PubMed:9072970, ECO:0000269|PubMed:9819408}. Macromolecular component of the subendothelium. Majorcomponent of the Descemet's membrane (basement membrane) ofcorneal endothelial cells. Also component of the endothelia ofblood vessels. Necessary for migration and proliferation ofvascular smooth muscle cells and thus, has a potential role in themaintenance of vessel wall integrity and structure, in particularin atherogenesis. {ECO:0000269|PubMed:11708810}. Vastatin, the C-terminal fragment comprising the NC1domain, inhibits aortic endothelial cell proliferation and causescell apoptosis. {ECO:0000269|PubMed:11708810}.

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 GSK3B_COL8A1


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 GSK3B_COL8A1


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
GSK3BDNM1L, UPF3A, GEMIN4, SMYD2, DDX20, GSKIP, XPO6, DHX36, RPF2, SMN2, IGF2BP1, SNRNP70, EWSR1, ACLY, STRAP, SF3B1, AXIN1, CTNNB1, AR, MUC1, APC, CCNE1, NOTCH2, AKAP11, PRKAR2A, PPP1CA, AKT2, TP53, NFKB1, PTPN1, PTK2, AKT1, TSC2, TSC1, SGK3, NOTCH1, PRKCA, AXIN2, NIN, E2F1, PPARGC1A, ANKRD6, SMAD3, PSEN1, PHLPP1, TRAF2, SNCAIP, EPM2A, SNAI1, MYC, GSK3B, CIITA, KLF5, BTRC, CEBPB, ATF3, SMURF2, SREBF1, UBR5, BCL3, YBX1, YBX3, NOTCH3, MKL1, NAT9, ATXN3, TMEM44, MTOR, ENTPD6, RXRA, ADIRF, CSAD, CST6, GIPC1, SYNE4, BRIX1, EEF1G, GNB2, DNAJC13, C14orf1, PMAIP1, UBR1, LMO4, NSFL1C, GBP2, BAG6, UBE2D1, DNMT1, FEN1, CAMSAP3, GAPDH, TUBA1A, MICAL1, VIM, ZNF227, RSU1, SAP30BP, SPTBN4, MID1IP1, CHD3, TONSL, EIF4EBP1, MAP4, CEBPZ, RPLP1, TLE1, XPNPEP1, MTF2, GJB5, MASP1, PTN, DCTN3, RPS2, DNMT3L, WSB1, IGSF21, CENPB, RAI1, SLA, BZW2, EEF1A1, IGHM, FBN3, KIF5B, VPS51, ACSBG1, ADAP1, IQCG, ZNF746, EFTUD2, MGEA5, MED24, FIBP, FKBP14, LUC7L2, KIAA1191, PFKFB4, ATPIF1, ACTL6B, ASRGL1, RPL36AL, UBXN6, MPP1, DHX34, BEX1, UFM1, DEFA1, ZHX1, QARS, DBI, FAM83D, ZNF135, KHSRP, GPR39, RBPJ, PIM2, NRBP1, CLEC3B, FZD5, ARRB1, MAPT, NCOA3, COPS5, HDAC6, ELAVL1, APP, STK11, RASSF1, TAZ, NFE2L2, PDE4D, MDM2, TOP2A, HSPA4, HSP90AA1, AURKA, FBXW7, PPP2R5D, CREB1, MAP3K1, XIAP, BIRC2, BIRC3, NUB1, SNAI2, GYS1, SNCA, MAPK1, PRKACA, FZD1, PTPN11, PRKDC, AKT3, DDIT4, RELB, RELA, DEAF1, SPICE1, VTA1, MAP3K11, ARHGEF11, KRBA1, FAM193B, RPS6KA1, SMAD1, KLF2, NFE2L1, LRP6, CSF3R, ZFPM1, DUSP9, PRKAR1A, PPP1R2, FRAT1, HECW2, CLASP2, FRAT2, DYNLL1, PRUNE, EPB41L3, EYA1, NBR1, HDAC4, JUN, RNF220, MAP3K4, RICTOR, DEC1, BHLHE41, CSNK2B, FBXW11, TRAK2, HAX1, NUFIP1, ITLN1, PPP3CC, RCAN2, SP7, MAP2K7, ILKAP, XPO1, CDH1, IKBKG, CCND1, FOXO1, PRKCB, PRKCZ, NFE2L3, CREB3L3, CCDC6, PIAS1, UBXN2B, LPCAT1, SOX10, MAP3K2, NFATC1, NFATC2, FOXM1, AREL1, TBK1, UBE3A, CD274, CDX2, SOX9, CTNND1, PPP1CB, PPP1CC, SAMHD1, DEFA5, RCAN1, DKK3, U2AF1, TSKS, BCL2L1, DISC1COL8A1KLHL12, KRTAP4-12, EFEMP2, COL8A2, UBQLN4, ADAMTSL4, REL, SP4, CREB5, VAC14, KRTAP9-2, KRT40, KRTAP10-7, KRTAP10-8, KRTAP10-3, INCA1, NOTCH2NL, KRTAP26-1, MCM2


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 GSK3B_COL8A1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneGSK3BP49841DB01356LithiumGlycogen synthase kinase-3 betasmall moleculeapproved

Top

RelatedDiseases for GSK3B_COL8A1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneGSK3BC0005586Bipolar Disorder6CTD_human;PSYGENET
HgeneGSK3BC0011581Depressive disorder5CTD_human;PSYGENET
HgeneGSK3BC1269683Major Depressive Disorder5PSYGENET
HgeneGSK3BC0011570Mental Depression3PSYGENET
HgeneGSK3BC0002395Alzheimer's Disease2CTD_human
HgeneGSK3BC0033578Prostatic Neoplasms2CTD_human
HgeneGSK3BC0525045Mood Disorders2PSYGENET
HgeneGSK3BC0018800Cardiomegaly1CTD_human
HgeneGSK3BC0018801Heart failure1CTD_human
HgeneGSK3BC0020538Hypertensive disease1CTD_human
HgeneGSK3BC0026846Muscular Atrophy1CTD_human
HgeneGSK3BC0027051Myocardial Infarction1CTD_human
HgeneGSK3BC0031154Peritonitis1CTD_human
HgeneGSK3BC0036341Schizophrenia1CTD_human
HgeneGSK3BC0334634Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse1CTD_human
HgeneGSK3BC0993582Arthritis, Experimental1CTD_human
HgeneGSK3BC1866282CEROID LIPOFUSCINOSIS, NEURONAL, 61CTD_human
HgeneGSK3BC2609414Acute kidney injury1CTD_human
TgeneCOL8A1C0000768Congenital Abnormality1CTD_human