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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: 8836

FusionGeneSummary for CTNNB1_SLC38A5

check button Fusion gene summary
Fusion gene informationFusion gene name: CTNNB1_SLC38A5
Fusion gene ID: 8836
HgeneTgene
Gene symbol

CTNNB1

SLC38A5

Gene ID

1499

92745

Gene namecatenin beta 1solute carrier family 38 member 5
SynonymsCTNNB|EVR7|MRD19|armadilloJM24|SN2|SNAT5|pp7194
Cytomap

3p22.1

Xp11.23

Type of geneprotein-codingprotein-coding
Descriptioncatenin beta-1catenin (cadherin-associated protein), beta 1, 88kDasodium-coupled neutral amino acid transporter 5solute carrier family 38 (amino acid transporter), member 5system N transporter 2transport system N, protein 2
Modification date2018052720180523
UniProtAcc

P35222

Q8WUX1

Ensembl transtripts involved in fusion geneENST00000471014, ENST00000405570, 
ENST00000396183, ENST00000349496, 
ENST00000453024, ENST00000396185, 
ENST00000376876, ENST00000376875, 
ENST00000317669, ENST00000480105, 
Fusion gene scores* DoF score12 X 9 X 6=6483 X 1 X 3=9
# samples 124
** MAII scorelog2(12/648*10)=-2.43295940727611
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(4/9*10)=2.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: CTNNB1 [Title/Abstract] AND SLC38A5 [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
HgeneCTNNB1

GO:0008285

negative regulation of cell proliferation

12970740

HgeneCTNNB1

GO:0030997

regulation of centriole-centriole cohesion

18086858

HgeneCTNNB1

GO:0032355

response to estradiol

15304487

HgeneCTNNB1

GO:0033234

negative regulation of protein sumoylation

22155184

HgeneCTNNB1

GO:0043065

positive regulation of apoptotic process

12651860|12970740

HgeneCTNNB1

GO:0043525

positive regulation of neuron apoptotic process

19591802

HgeneCTNNB1

GO:0045893

positive regulation of transcription, DNA-templated

12970740|18787224

HgeneCTNNB1

GO:0045944

positive regulation of transcription by RNA polymerase II

9065402|11751639|12651860|14660579|18193033

HgeneCTNNB1

GO:0060070

canonical Wnt signaling pathway

10644691|12937339|19187541

HgeneCTNNB1

GO:0071681

cellular response to indole-3-methanol

10868478

HgeneCTNNB1

GO:0090279

regulation of calcium ion import

19996314

HgeneCTNNB1

GO:1904798

positive regulation of core promoter binding

22723415

HgeneCTNNB1

GO:2000008

regulation of protein localization to cell surface

19996314


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
TCGARVBRCATCGA-AR-A1AS-01ACTNNB1chr3

41281934

+SLC38A5chrX

48327824

-
* 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-5UTRENST00000471014ENST00000376876CTNNB1chr3

41281934

+SLC38A5chrX

48327824

-
intron-intronENST00000471014ENST00000376875CTNNB1chr3

41281934

+SLC38A5chrX

48327824

-
intron-5UTRENST00000471014ENST00000317669CTNNB1chr3

41281934

+SLC38A5chrX

48327824

-
intron-intronENST00000471014ENST00000480105CTNNB1chr3

41281934

+SLC38A5chrX

48327824

-
intron-5UTRENST00000405570ENST00000376876CTNNB1chr3

41281934

+SLC38A5chrX

48327824

-
intron-intronENST00000405570ENST00000376875CTNNB1chr3

41281934

+SLC38A5chrX

48327824

-
intron-5UTRENST00000405570ENST00000317669CTNNB1chr3

41281934

+SLC38A5chrX

48327824

-
intron-intronENST00000405570ENST00000480105CTNNB1chr3

41281934

+SLC38A5chrX

48327824

-
5CDS-5UTRENST00000396183ENST00000376876CTNNB1chr3

41281934

+SLC38A5chrX

48327824

-
5CDS-intronENST00000396183ENST00000376875CTNNB1chr3

41281934

+SLC38A5chrX

48327824

-
5CDS-5UTRENST00000396183ENST00000317669CTNNB1chr3

41281934

+SLC38A5chrX

48327824

-
5CDS-intronENST00000396183ENST00000480105CTNNB1chr3

41281934

+SLC38A5chrX

48327824

-
5CDS-5UTRENST00000349496ENST00000376876CTNNB1chr3

41281934

+SLC38A5chrX

48327824

-
5CDS-intronENST00000349496ENST00000376875CTNNB1chr3

41281934

+SLC38A5chrX

48327824

-
5CDS-5UTRENST00000349496ENST00000317669CTNNB1chr3

41281934

+SLC38A5chrX

48327824

-
5CDS-intronENST00000349496ENST00000480105CTNNB1chr3

41281934

+SLC38A5chrX

48327824

-
intron-5UTRENST00000453024ENST00000376876CTNNB1chr3

41281934

+SLC38A5chrX

48327824

-
intron-intronENST00000453024ENST00000376875CTNNB1chr3

41281934

+SLC38A5chrX

48327824

-
intron-5UTRENST00000453024ENST00000317669CTNNB1chr3

41281934

+SLC38A5chrX

48327824

-
intron-intronENST00000453024ENST00000480105CTNNB1chr3

41281934

+SLC38A5chrX

48327824

-
5CDS-5UTRENST00000396185ENST00000376876CTNNB1chr3

41281934

+SLC38A5chrX

48327824

-
5CDS-intronENST00000396185ENST00000376875CTNNB1chr3

41281934

+SLC38A5chrX

48327824

-
5CDS-5UTRENST00000396185ENST00000317669CTNNB1chr3

41281934

+SLC38A5chrX

48327824

-
5CDS-intronENST00000396185ENST00000480105CTNNB1chr3

41281934

+SLC38A5chrX

48327824

-

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FusionProtFeatures for CTNNB1_SLC38A5


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CTNNB1

P35222

SLC38A5

Q8WUX1

Key downstream component of the canonical Wnt signalingpathway. In the absence of Wnt, forms a complex with AXIN1, AXIN2,APC, CSNK1A1 and GSK3B that promotes phosphorylation on N-terminalSer and Thr residues and ubiquitination of CTNNB1 via BTRC and itssubsequent degradation by the proteasome. In the presence of Wntligand, CTNNB1 is not ubiquitinated and accumulates in thenucleus, where it acts as a coactivator for transcription factorsof the TCF/LEF family, leading to activate Wnt responsive genes.Involved in the regulation of cell adhesion, as component of an E-cadherin:catenin adhesion complex. Acts as a negative regulator ofcentrosome cohesion. Involved in the CDK2/PTPN6/CTNNB1/CEACAM1pathway of insulin internalization. Blocks anoikis of malignantkidney and intestinal epithelial cells and promotes theiranchorage-independent growth by down-regulating DAPK2. DisruptsPML function and PML-NB formation by inhibiting RANBP2-mediatedsumoylation of PML (PubMed:17524503, PubMed:18077326,PubMed:18086858, PubMed:18957423, PubMed:21262353,PubMed:22647378, PubMed:22699938, PubMed:22155184). Promotesneurogenesis by maintaining sympathetic neuroblasts within thecell cycle (By similarity). {ECO:0000250|UniProtKB:Q02248,ECO:0000269|PubMed:17524503, ECO:0000269|PubMed:18077326,ECO:0000269|PubMed:18086858, ECO:0000269|PubMed:18957423,ECO:0000269|PubMed:21262353, ECO:0000269|PubMed:22155184,ECO:0000269|PubMed:22647378, ECO:0000269|PubMed:22699938}. Functions as a sodium-dependent amino acid transporterwhich countertransport protons. Mediates the saturable, pH-sensitive, and electrogenic cotransport of several neutral aminoacids including glycine, asparagine, alanine, serine, glutamineand histidine with sodium. {ECO:0000269|PubMed:11243884}.

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 CTNNB1_SLC38A5


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 CTNNB1_SLC38A5


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
CTNNB1MAGI1, LGALS9, CTNNBIP1, PHB2, CTNND1, JUP, APC, PIK3R1, AXIN1, PSEN1, RXRA, AR, CDH1, GSK3B, MUC1, CTNNA1, VCL, EGFR, PIN1, TCF4, CREBBP, LEF1, TFAP2A, MET, SMARCA4, CDH3, CDH5, ERBB2, PTPRF, SMAD7, ESR1, ACP1, HNF4A, CDH2, AJAP1, CA9, SLC9A3R1, PTPN14, CBY1, DLG5, FYN, FER, RAB8B, CDON, BOC, RUVBL1, DVL1, DVL3, DVL2, CDH8, PTPRJ, APC2, FHL2, VEZT, MYO7A, TGFBR2, SMAD2, SMAD3, SMAD4, USP9X, PTPRZ1, PTN, DLGAP1, NR5A1, NLK, CDH11, CHUK, IKBKB, DSC3, PECAM1, CDH6, CDH18, TBL1X, CACYBP, SKP1, PTPN11, TCF7L1, CDH9, CDH10, CDH7, PTPN1, CTNNA3, AXIN2, IQGAP1, CDK5R1, EZR, PTPRU, PTPRK, TLE1, KAT2B, JADE1, PTPN13, TRRAP, CHD8, AMER1, HDAC7, BTRC, EP400, KMT2A, SMARCA5, ASH2L, KMT2D, MEN1, RBBP5, KAT2A, DAZAP2, TCF7L2, FOXO4, FOXO3, FBXW11, EZH2, LMNA, RUVBL2, PROP1, CDC27, HDAC1, IFRD1, HDAC4, PITX2, CARM1, TOB1, HIST1H1C, TADA2A, TADA3, SOX6, EP300, CUL1, SIRT1, SATB1, UCHL1, FAF1, PLK1, NOTCH1, SIAH1, RYK, UHRF2, GLIS2, NR4A1, AHR, DDB1, COPS3, COPS5, COPS8, NDRG1, PRKCA, NFKB1, BCL3, GRIP1, CALCOCO1, FANCC, HINT1, RANBP2, NUP62, NUP98, NUP153, CDC73, SUV39H1, UBE2B, CUL4A, ARMC8, HTT, PML, CUL3, UBE2D1, YWHAZ, ISG15, HERC5, MAGI2, TAX1BP3, WHSC1, ZBTB33, TBL1XR1, CRYAB, RB1CC1, BRCA1, MAPK8, MAPK9, APP, LEO1, FHIT, TUBA1A, BTF3, SERBP1, HSPA1B, HSPA8, HSP90AB1, LDHB, RPLP2, HNRNPA1, RPSA, SNRPD1, AKT1, EPAS1, CTBP1, EMD, ATF2, ZFYVE9, FUS, TOP2A, GEMIN5, DHX9, PARP1, PRPF6, DDX1, HNRNPM, DDX5, NONO, RBMX, HNRNPA2B1, HNRNPK, ERBB2IP, CCNA2, CCNE1, CDK2, CCNA1, SOX2, LRP6, CBL, ABL1, ELAVL1, PTGS2, AMOT, LATS2, STRN3, NEK2, AP2M1, KCTD1, SP1, RNF14, FBXO45, HUWE1, RNF220, SOX1, MOV10, NXF1, PPARG, BCL9, PYGO2, BCL9L, CITED1, CREB1, HIF1A, OBSL1, CCDC8, FANCA, FANCG, BCL6, ZIC3, PTEN, ILK, POU5F1, HDAC6, CAV1, SMURF1, SAPCD1, GSK3A, UNK, CTNNA2, MSN, NTRK1, KLF5, PKD1, PARK2, HERC2, CEP128, XPO1, AURKA, MAPRE1, ACTN4, CASP3, CDK6, DKK1, FAS, FGFR1, PARD3, FOXB1, TRAF4, TRIM33, PRKCG, MCM2, SFN, USP4, ZMIZ1, MAP3K2, USP15, EGR1, FOXM1, LMNB1, UBE2R2, C21orf59, PKM, RNF4, UBE3A, FBXW7, SLAMF7, ACTB, SLC9A3R2, YAP1, NUDT5, LINC01194, FANCE, FANCF, WBP2, TRIM37, USP7, TRIM25, TESSLC38A5PRKAR1A, RAB5C, TMEM63B, YIPF5, C17orf49, UBC


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 CTNNB1_SLC38A5


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 CTNNB1_SLC38A5


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCTNNB1C0009375Colonic Neoplasms9CTD_human
HgeneCTNNB1C0206711Pilomatrixoma8CTD_human;HPO;ORPHANET;UNIPROT
HgeneCTNNB1C0009404Colorectal Neoplasms4CTD_human
HgeneCTNNB1C0001418Adenocarcinoma3CTD_human
HgeneCTNNB1C0023904Liver Neoplasms, Experimental3CTD_human
HgeneCTNNB1C0025149Medulloblastoma3CTD_human;HPO;UNIPROT
HgeneCTNNB1C1527249Colorectal Cancer3UNIPROT
HgeneCTNNB1C1879526Aberrant Crypt Foci3CTD_human
HgeneCTNNB1C2239176Liver carcinoma3CTD_human;HPO
HgeneCTNNB1C0001430Adenoma2CTD_human
HgeneCTNNB1C0023903Liver neoplasms2CTD_human
HgeneCTNNB1C0036341Schizophrenia2PSYGENET
HgeneCTNNB1C1458155Mammary Neoplasms2CTD_human
HgeneCTNNB1C0001624Adrenal Gland Neoplasms1CTD_human
HgeneCTNNB1C0007528Cecal Neoplasms1CTD_human
HgeneCTNNB1C0007873Uterine Cervical Neoplasm1CTD_human
HgeneCTNNB1C0010276Craniopharyngioma1CTD_human;ORPHANET
HgeneCTNNB1C0018923Hemangiosarcoma1CTD_human
HgeneCTNNB1C0021841Intestinal Neoplasms1CTD_human
HgeneCTNNB1C0023890Liver Cirrhosis1CTD_human
HgeneCTNNB1C0024121Lung Neoplasms1CTD_human
HgeneCTNNB1C0026846Muscular Atrophy1CTD_human
HgeneCTNNB1C0027626Neoplasm Invasiveness1CTD_human
HgeneCTNNB1C0027708Nephroblastoma1CTD_human
HgeneCTNNB1C0027746Nerve Degeneration1CTD_human
HgeneCTNNB1C0030297Pancreatic Neoplasm1CTD_human
HgeneCTNNB1C0031149Peritoneal Neoplasms1CTD_human
HgeneCTNNB1C0033578Prostatic Neoplasms1CTD_human
HgeneCTNNB1C0038325Stevens-Johnson Syndrome1CTD_human
HgeneCTNNB1C0206624Hepatoblastoma1CTD_human
HgeneCTNNB1C0206669Hepatocellular Adenoma1CTD_human
HgeneCTNNB1C0206686Adrenocortical carcinoma1CTD_human
HgeneCTNNB1C0232347No-Reflow Phenomenon1CTD_human
HgeneCTNNB1C0334634Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse1CTD_human
HgeneCTNNB1C0345967Malignant mesothelioma1CTD_human
HgeneCTNNB1C0376634Craniofacial Abnormalities1CTD_human
HgeneCTNNB1C0919267ovarian neoplasm1CTD_human
HgeneCTNNB1C3554449MENTAL RETARDATION, AUTOSOMAL DOMINANT 191ORPHANET;UNIPROT
HgeneCTNNB1C4277682Chemical and Drug Induced Liver Injury1CTD_human