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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: 3407

FusionGeneSummary for ATP5H_GRB2

check button Fusion gene summary
Fusion gene informationFusion gene name: ATP5H_GRB2
Fusion gene ID: 3407
HgeneTgene
Gene symbol

ATP5H

GRB2

Gene ID

2885

Gene namegrowth factor receptor bound protein 2
SynonymsASH|EGFRBP-GRB2|Grb3-3|MST084|MSTP084|NCKAP2
Cytomap

17q25.1

Type of geneprotein-coding
Descriptiongrowth factor receptor-bound protein 2HT027SH2/SH3 adapter GRB2abundant SRC homologyepidermal growth factor receptor-binding protein GRB2growth factor receptor-bound protein 3protein Ash
Modification date20180527
UniProtAcc

O75947

P62993

Ensembl transtripts involved in fusion geneENST00000301587, ENST00000344546, 
ENST00000392562, ENST00000316804, 
ENST00000316615, ENST00000392563, 
ENST00000392564, ENST00000578961, 
ENST00000462266, 
Fusion gene scores* DoF score4 X 2 X 4=326 X 4 X 4=96
# samples 46
** MAII scorelog2(4/32*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(6/96*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ATP5H [Title/Abstract] AND GRB2 [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-EJ-A46G-01AATP5Hchr17

73038276

-GRB2chr17

73328878

-
* 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-shiftENST00000301587ENST00000392562ATP5Hchr17

73038276

-GRB2chr17

73328878

-
Frame-shiftENST00000301587ENST00000316804ATP5Hchr17

73038276

-GRB2chr17

73328878

-
Frame-shiftENST00000301587ENST00000316615ATP5Hchr17

73038276

-GRB2chr17

73328878

-
Frame-shiftENST00000301587ENST00000392563ATP5Hchr17

73038276

-GRB2chr17

73328878

-
Frame-shiftENST00000301587ENST00000392564ATP5Hchr17

73038276

-GRB2chr17

73328878

-
Frame-shiftENST00000301587ENST00000578961ATP5Hchr17

73038276

-GRB2chr17

73328878

-
5CDS-intronENST00000301587ENST00000462266ATP5Hchr17

73038276

-GRB2chr17

73328878

-
Frame-shiftENST00000344546ENST00000392562ATP5Hchr17

73038276

-GRB2chr17

73328878

-
Frame-shiftENST00000344546ENST00000316804ATP5Hchr17

73038276

-GRB2chr17

73328878

-
Frame-shiftENST00000344546ENST00000316615ATP5Hchr17

73038276

-GRB2chr17

73328878

-
Frame-shiftENST00000344546ENST00000392563ATP5Hchr17

73038276

-GRB2chr17

73328878

-
Frame-shiftENST00000344546ENST00000392564ATP5Hchr17

73038276

-GRB2chr17

73328878

-
Frame-shiftENST00000344546ENST00000578961ATP5Hchr17

73038276

-GRB2chr17

73328878

-
5CDS-intronENST00000344546ENST00000462266ATP5Hchr17

73038276

-GRB2chr17

73328878

-

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FusionProtFeatures for ATP5H_GRB2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ATP5H

O75947

GRB2

P62993

Mitochondrial membrane ATP synthase (F(1)F(0) ATPsynthase or Complex V) produces ATP from ADP in the presence of aproton gradient across the membrane which is generated by electrontransport complexes of the respiratory chain. F-type ATPasesconsist of two structural domains, F(1) - containing theextramembraneous catalytic core, and F(0) - containing themembrane proton channel, linked together by a central stalk and aperipheral stalk. During catalysis, ATP synthesis in the catalyticdomain of F(1) is coupled via a rotary mechanism of the centralstalk subunits to proton translocation. Part of the complex F(0)domain and the peripheric stalk, which acts as a stator to holdthe catalytic alpha(3)beta(3) subcomplex and subunit a/ATP6 staticrelative to the rotary elements. Adapter protein that provides a critical link betweencell surface growth factor receptors and the Ras signalingpathway. Isoform 2 does not bind to phosphorylated epidermalgrowth factor receptor (EGFR) but inhibits EGF-inducedtransactivation of a RAS-responsive element. Isoform 2 acts as adominant negative protein over GRB2 and by suppressingproliferative signals, may trigger active programmed cell death.

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 ATP5H_GRB2


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 ATP5H_GRB2


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
ATP5HICT1, APP, ATP5O, NDUFA12, UQCRQ, STOML2, UBL4A, FBXW4, CCDC8, BLK, ATP5F1, ATP5D, ATP5A1, ATP5B, ATP5L, OGDH, RAB1A, VDAC3, ATP5I, CHCHD2, CISD1, CYC1, PDIA3, RER1, MED4, CENPA, TSNAX, TM9SF4, TFG, TMEM63B, FAM134A, ACKR3, USF1, PTPMT1, COQ9, NDUFA4, C15orf48, CISD3, C17orf89, PAK7, ADCK1, CHCHD10, APOOL, FAM136A, ADCK4, NDUFS3, C7orf55, OCIAD1, C2orf47, PTPN5, DKK3, ZFYVE27, TACR1, P2RY12, UBC, STOM, COX15, PDHA1, SDHA, VDAC1GRB2CSF1R, PRRC2A, EGFR, ERBB2, ERBB3, ERBB4, MED28, BCR, GAB2, CBL, ETV6, LY6G6F, NEU3, SRC, PDE6G, DOCK1, FASLG, SHC1, SOS1, VAV2, VAV3, RACGAP1, IQGAP1, KRT7, KRT8, KRT17, KRT18, PLEC, EPPK1, BCAR1, WAS, MAP4K1, BLNK, IL2RB, SYN1, PDGFRB, KHDRBS1, PTPN6, PTPN11, SYK, CD22, GAB1, IRS1, TNFRSF1A, PTK2, SH3BP2, CD28, TNK2, KIT, SOCS1, PTPRA, CBLB, EPHA2, AXL, DAG1, MAP2, PLCG1, MST1R, ITGA2B, NCKIPSD, NTRK1, PTPN1, JAK2, GRB2, USP8, CSF3R, HTT, MET, LCP2, SNTA1, ABL1, LAT, FLT4, PIK3R1, FRS2, GAB3, VAV1, SH2B2, SH2B1, PRKAR1A, DCTN1, RET, CRK, PTPN22, JAK1, ARHGAP17, SHB, REPS2, OCRL, PDGFRA, PXN, PAG1, TRAT1, INSR, RAPGEF1, KDR, SELL, ADRB2, EPOR, SYNCRIP, ZAP70, IRS4, MUC1, ITK, LAT2, SH2B3, ANXA2, ARHGAP35, RASA1, PTPN12, CRKL, ADAM15, ADAM10, WASL, EPS15, IL6ST, SH3KBP1, EPHB1, MAP3K1, FLT3, RALGPS1, USP6NL, SPRY2, PTPRE, DNM1, HNRNPC, MAPK9, DRD3, CDKN1B, ALOX5, PIK3C2B, GHR, HCLS1, DTX1, LAX1, SOS2, DRD4, PTK2B, SKAP1, TOM1L1, SHKBP1, FGFR3, INPP5D, MICAL1, PLXNB1, OTUD5, STAMBP, ALK, NPM1, BTK, CSN2, DAB2, EP300, HNRNPK, HSPA5, MAP1A, ATP8, ND4, MYH9, MYH11, NCL, NFYB, PIK3R2, RBBP6, SLC1A2, SPTBN1, SS18, UBA52, UBC, WIPF1, MAP4K3, ASAP2, SYNJ2, DLGAP1, ARHGAP32, HELZ, PDCD6IP, HIPK3, DCTN2, TCERG1, KIF3A, MAP4K5, KIAA1549L, ABI3BP, PTPN23, ASAP1, ERRFI1, WDR44, USP53, RIF1, SH2D4A, GAREM, RBM33, MSI2, WIPF2, SH3D19, NAP1L5, STK32C, MYO18A, A2M, AEBP1, AGT, AHSG, ALAS2, STRADB, AMBP, APCS, APOH, SNRNP200, B2M, GPANK1, BPGM, CLU, DNAJA3, DNAJB11, ESD, FABP1, FHOD1, FN1, GC, H1F0, HP, IK, PBXIP1, POLR2A, PRKAB1, RNF10, TF, TFG, TSC2, ENO1, ITIH4, AP4S1, CUTA, POMP, C21orf58, CD164, C21orf91, CFH, COX6A1, ECHS1, FH, NADK, FTL, PRAP1, GSTK1, TCEAL8, POLR1D, RBP4, SHBG, WDR1, IRF5, PPP3CA, GIT1, CDC42, CASP2, ELAVL1, SYNM, AP2A2, DNM2, NCK1, UBASH3B, CUL3, DCUN1D1, LRRK1, INPPL1, ARAP1, KRT85, HSPA8, HSPG2, KRT86, KRT1, KRT81, KRT35, CAD, KRT10, KRT2, HSPA9, KRT83, CCT8, KRT9, KRT33B, HSP90AA1, DNM3, DYNC1H1, TUBB, KRT34, RPS19, HSPA1B, HSP90AB1, SKAP2, CCT4, EEF1A1P5, KRT6A, KRT14, TUBB4B, TUBA1C, KRT16, TCP1, CCT2, ACTB, FAM175B, CCT3, KRT5, KRT15, CLPX, EEF1G, PSMD11, CALM3, HSPA1L, KRT32, DARS, HSPD1, EEF1D, CNOT1, UBR4, AHNAK, CLTC, KRT36, KRT82, MFAP4, PSTPIP2, PSMC2, PSME1, PSMD14, CD2AP, FUS, BRE, KRT19, CTTN, KRT4, VASP, CCT7, KRT73, HNRNPU, BABAM1, HNRNPD, DRG1, IMPDH2, SERBP1, PIK3CA, TUBA4B, BRCC3, DOK3, HIST4H4, GAPDH, RUVBL1, PSMD13, RPS20, ACTL6A, RARS, CCT5, HSD17B4, TSG101, IRS2, PDE4D, SPRY1, SPRY4, VCAM1, ELMO2, WDR6, WDR77, SNX18, NISCH, YWHAZ, STARD10, YWHAE, SH3PXD2B, DOCK4, PEAK1, PIK3CB, SLC25A5, YWHAB, YWHAQ, PPP2R2A, SIRPA, SYNJ1, FGD6, PIK3AP1, KIRREL, YWHAG, GAREML, AGER, WIPF3, PTPN18, SLC25A13, CYFIP2, ARHGEF7, PPP1CA, CSK, PTPRJ, YWHAH, CSRP1, SH3PXD2A, TTYH2, PIK3R3, FLNA, ARHGAP12, RADIL, SH2D5, FAU, NCKAP1, DIAPH1, HGS, CLASP2, TEC, SLC25A6, HUNK, MLLT4, C1orf27, PPP1CC, HDGFRP3, SLAIN2, EPS15L1, IGF2BP1, PPP5C, GJA9, TAB1, ITGA4, BAG3, CKS2, FTH1, COPB1, PHACTR4, SF3B4, VIM, UBA1, PHC2, KPNA2, CTAGE5, PON2, ARHGEF5, CASC3, MLXIPL, WBP11, YLPM1, SHANK3, NKD2, SLX1A, ACTG1, CBR1, AP2A1, AP2B1, AP2M1, AP2S1, HIST1H3A, SMU1, SNRPD2, CD59, ABL2, AES, EPS8, LMO2, REL, TRIM27, TP53BP2, DDX17, IKZF3, ZBTB7B, ABI3, NUTM2F, DPPA4, HOMEZ, NIF3L1, ARHGAP9, LZTS2, LNX1, C1orf94, PNMA5, PRR22, INCA1, DOK1, FKBP2, FABP5, ITCH, ROS1, HEXB, ACAP1, PLEKHS1, AUNIP, UQCC2, CRBN, LMX1A, MYOZ1, PACRGL, PARD6A, PCDHB5, PPARA, RB1, SOCS4, TMEM128, TSPAN2, VCP, WDFY3, DBN1, E2F2, ARL6IP4, OLIG1, WBSCR27, ZMAT1, CLNK, CEP170, FBF1, MCM2, USP12, GFAP, NEFH, HNRNPA2B1, RPS27A, LGALS3BP, MYL12A, MYL12B, S100A8, S100A9, ESRRB, LIME1, KRAS, LTK, SHC2, SHC4, DUSP13, DUSP8, CYLD, VPS37B, NKX2-5, SPATA2L, MVB12A, ZMYM6, VPS28, DOCK5, THEMIS, RAC1, TRIM25


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 ATP5H_GRB2


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 ATP5H_GRB2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneGRB2C0036341Schizophrenia2PSYGENET