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: 24368

FusionGeneSummary for NIN_SAV1

check button Fusion gene summary
Fusion gene informationFusion gene name: NIN_SAV1
Fusion gene ID: 24368
HgeneTgene
Gene symbol

NIN

SAV1

Gene ID

51199

60485

Gene namenineinsalvador family WW domain containing protein 1
SynonymsSCKL7SAV|WW45|WWP4
Cytomap

14q22.1

14q22.1

Type of geneprotein-codingprotein-coding
Descriptionnineinglycogen synthase kinase 3 beta-interacting proteinhNineinninein (GSK3B interacting protein)ninein centrosomal proteinprotein salvador homolog 11700040G09Rik45 kDa WW domain proteinWW domain-containing adaptor 45hWW45salvador homolog 1
Modification date2018052320180519
UniProtAcc

Q8N4C6

Q9H4B6

Ensembl transtripts involved in fusion geneENST00000245441, ENST00000389868, 
ENST00000530997, ENST00000382043, 
ENST00000382041, ENST00000324330, 
ENST00000453196, ENST00000486200, 
ENST00000324679, 
Fusion gene scores* DoF score9 X 9 X 5=4054 X 3 X 4=48
# samples 104
** MAII scorelog2(10/405*10)=-2.01792190799726
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: NIN [Title/Abstract] AND SAV1 [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
TCGALDHNSCTCGA-BB-A5HY-01ANINchr14

51237106

-SAV1chr14

51132337

-
* 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
Frame-shiftENST00000245441ENST00000324679NINchr14

51237106

-SAV1chr14

51132337

-
Frame-shiftENST00000389868ENST00000324679NINchr14

51237106

-SAV1chr14

51132337

-
Frame-shiftENST00000530997ENST00000324679NINchr14

51237106

-SAV1chr14

51132337

-
Frame-shiftENST00000382043ENST00000324679NINchr14

51237106

-SAV1chr14

51132337

-
Frame-shiftENST00000382041ENST00000324679NINchr14

51237106

-SAV1chr14

51132337

-
Frame-shiftENST00000324330ENST00000324679NINchr14

51237106

-SAV1chr14

51132337

-
Frame-shiftENST00000453196ENST00000324679NINchr14

51237106

-SAV1chr14

51132337

-
intron-3CDSENST00000486200ENST00000324679NINchr14

51237106

-SAV1chr14

51132337

-

Top

FusionProtFeatures for NIN_SAV1


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

Q8N4C6

SAV1

Q9H4B6

Regulator of STK3/MST2 and STK4/MST1 in the Hipposignaling pathway which plays a pivotal role in organ size controland tumor suppression by restricting proliferation and promotingapoptosis. The core of this pathway is composed of a kinasecascade wherein STK3/MST2 and STK4/MST1, in complex with itsregulatory protein SAV1, phosphorylates and activates LATS1/2 incomplex with its regulatory protein MOB1, which in turnphosphorylates and inactivates YAP1 oncoprotein and WWTR1/TAZ.Phosphorylation of YAP1 by LATS1/2 inhibits its translocation intothe nucleus to regulate cellular genes important for cellproliferation, cell death, and cell migration. SAV1 is requiredfor STK3/MST2 and STK4/MST1 activation and promotes cell-cycleexit and terminal differentiation in developing epithelialtissues. Plays a role in centrosome disjunction by regulating thelocalization of NEK2 to centrosomes, and its ability tophosphorylate CROCC and CEP250. In conjunction with STK3/MST2,activates the transcriptional activity of ESR1 through themodulation of its phosphorylation. {ECO:0000269|PubMed:16930133,ECO:0000269|PubMed:19212654, ECO:0000269|PubMed:21076410,ECO:0000269|PubMed:21104395}.

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 NIN_SAV1


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 NIN_SAV1


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
NINNIN, PRKACA, AURKA, GSK3B, AMOT, ELAVL1, LATS2, CEP170, CCDC68, TMOD1, CASQ2, C17orf59, CEP63, MED4, HERC2, OFD1, CEP128, CNTRL, ACTR1A, ANLN, AP3D1, CEP131, BAIAP2, CAMK2D, CC2D1A, CCDC138, CCNB1, CCNB2, CENPE, CEP164, CEP350, CKAP2, CLASP1, CLASP2, CSPP1, DBT, DCTN1, DCTN2, DHX35, DIAPH3, DYNC1H1, DYNC1I2, DYNC1LI1, DYNC1LI2, ECH1, EIF4ENIF1, ERC1, FAM83B, FGFR1OP, GPATCH1, HAUS1, HAUS3, HAUS4, HAUS5, HAUS6, HAUS7, HAUS8, HECTD1, HMMR, IQCB1, KIAA1671, KIF14, LUZP1, MAP7D3, MGA, NCKAP5L, NEDD1, NME7, PALLD, PCM1, PLK1, RASSF8, RLTPR, SAMD4B, SDCCAG3, SPC24, SVIL, TJP1, TNRC6B, TP53, TP53BP2, TTC28, TTF2, TTK, TXLNA, UNC45A, UPF1, WDR83, ACTR2, AHCY, ARPC3, CEP192, CSNK1A1, HMGN3, ISOC1, PIBF1, PMPCB, RAB2A, SSX2IP, TCHP, YWHAH, POC5, KIAA1244, NHP2L1, BAX, MYH13, DOT1L, CDC14A, SYCE3, TCP10L, ZNF331, COG5SAV1SFN, STK3, STK4, ELAVL1, RASSF6, RASSF1, LATS1, CUL3, EP300, MOB1A, MOB1B, ALG13, AMOT, ATP5C1, CEP131, CCDC138, CEP72, CEP85, CNTROB, CPEB4, CSNK1E, EIF4ENIF1, FUBP3, GLMN, HDAC6, HELZ, IGF2BP2, INADL, IRS4, KIAA0753, KIAA1279, KIF7, KIRREL, LATS2, MIA3, NYNRIN, OFD1, PCM1, PIBF1, PKP4, PTPN14, PUM1, QARS, RPL36A, SEC16A, SNTB1, SNTB2, SPTAN1, TNRC6A, TNRC6B, TUBB6, TUBGCP2, UNK, UTRN, YWHAE, YWHAH, YWHAZ, SOCS6, MRPL4, GRN, YTHDF1, BAG1, SEMG1, CLEC11A, ADCYAP1, AJUBA, WTIP, FGFR1OP, APC, SKI, NEDD4, MTMR7, KIF2B, ZNF420, ZNF695, ZIM2, KIAA1683, ZNF133, VPS37D, NXF2, TULP2, P4HA2, TIAL1, PTPN7, DYRK2, AKAP12, KIF3C, KIF3B, USP9X


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 NIN_SAV1


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 NIN_SAV1


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