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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: 11920

FusionGeneSummary for ERBB2_SRCIN1

check button Fusion gene summary
Fusion gene informationFusion gene name: ERBB2_SRCIN1
Fusion gene ID: 11920
HgeneTgene
Gene symbol

ERBB2

SRCIN1

Gene ID

2064

80725

Gene nameerb-b2 receptor tyrosine kinase 2SRC kinase signaling inhibitor 1
SynonymsCD340|HER-2|HER-2/neu|HER2|MLN 19|NEU|NGL|TKR1P140|SNIP
Cytomap

17q12

17q12

Type of geneprotein-codingprotein-coding
Descriptionreceptor tyrosine-protein kinase erbB-2c-erb B2/neu proteinherstatinhuman epidermal growth factor receptor 2metastatic lymph node gene 19 proteinneuro/glioblastoma derived oncogene homologneuroblastoma/glioblastoma derived oncogene homologp185erbB2SRC kinase signaling inhibitor 1P130Cas-associated proteinSNAP-25-interacting proteinSNAP25-interacting proteinp140Cap
Modification date2018052720180519
UniProtAcc

P04626

Q9C0H9

Ensembl transtripts involved in fusion geneENST00000584601, ENST00000406381, 
ENST00000541774, ENST00000445658, 
ENST00000540147, ENST00000584450, 
ENST00000269571, ENST00000578199, 
ENST00000540042, ENST00000584888, 
ENST00000264659, ENST00000578925, 
ENST00000398579, 
Fusion gene scores* DoF score27 X 20 X 14=75607 X 5 X 4=140
# samples 467
** MAII scorelog2(46/7560*10)=-4.03868046816406
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(7/140*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ERBB2 [Title/Abstract] AND SRCIN1 [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
HgeneERBB2

GO:0007165

signal transduction

10572067

HgeneERBB2

GO:0007166

cell surface receptor signaling pathway

9685399

HgeneERBB2

GO:0007169

transmembrane receptor protein tyrosine kinase signaling pathway

7514177

HgeneERBB2

GO:0014065

phosphatidylinositol 3-kinase signaling

7556068

HgeneERBB2

GO:0032886

regulation of microtubule-based process

20937854

HgeneERBB2

GO:0042060

wound healing

12646923

HgeneERBB2

GO:0043406

positive regulation of MAP kinase activity

10572067

HgeneERBB2

GO:0045785

positive regulation of cell adhesion

7556068

HgeneERBB2

GO:0045945

positive regulation of transcription by RNA polymerase III

19372587

HgeneERBB2

GO:0046777

protein autophosphorylation

7556068

HgeneERBB2

GO:0050679

positive regulation of epithelial cell proliferation

10572067

HgeneERBB2

GO:0071363

cellular response to growth factor stimulus

20010870

HgeneERBB2

GO:0090314

positive regulation of protein targeting to membrane

20010870

TgeneSRCIN1

GO:0061098

positive regulation of protein tyrosine kinase activity

17525734

TgeneSRCIN1

GO:0061099

negative regulation of protein tyrosine kinase activity

17525734


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
TCGALDBRCATCGA-BH-A1EV-01AERBB2chr17

37872192

+SRCIN1chr17

36699371

-
* 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-intronENST00000584601ENST00000264659ERBB2chr17

37872192

+SRCIN1chr17

36699371

-
5CDS-intronENST00000584601ENST00000578925ERBB2chr17

37872192

+SRCIN1chr17

36699371

-
5CDS-5UTRENST00000584601ENST00000398579ERBB2chr17

37872192

+SRCIN1chr17

36699371

-
5CDS-intronENST00000406381ENST00000264659ERBB2chr17

37872192

+SRCIN1chr17

36699371

-
5CDS-intronENST00000406381ENST00000578925ERBB2chr17

37872192

+SRCIN1chr17

36699371

-
5CDS-5UTRENST00000406381ENST00000398579ERBB2chr17

37872192

+SRCIN1chr17

36699371

-
5CDS-intronENST00000541774ENST00000264659ERBB2chr17

37872192

+SRCIN1chr17

36699371

-
5CDS-intronENST00000541774ENST00000578925ERBB2chr17

37872192

+SRCIN1chr17

36699371

-
5CDS-5UTRENST00000541774ENST00000398579ERBB2chr17

37872192

+SRCIN1chr17

36699371

-
5CDS-intronENST00000445658ENST00000264659ERBB2chr17

37872192

+SRCIN1chr17

36699371

-
5CDS-intronENST00000445658ENST00000578925ERBB2chr17

37872192

+SRCIN1chr17

36699371

-
5CDS-5UTRENST00000445658ENST00000398579ERBB2chr17

37872192

+SRCIN1chr17

36699371

-
5CDS-intronENST00000540147ENST00000264659ERBB2chr17

37872192

+SRCIN1chr17

36699371

-
5CDS-intronENST00000540147ENST00000578925ERBB2chr17

37872192

+SRCIN1chr17

36699371

-
5CDS-5UTRENST00000540147ENST00000398579ERBB2chr17

37872192

+SRCIN1chr17

36699371

-
5CDS-intronENST00000584450ENST00000264659ERBB2chr17

37872192

+SRCIN1chr17

36699371

-
5CDS-intronENST00000584450ENST00000578925ERBB2chr17

37872192

+SRCIN1chr17

36699371

-
5CDS-5UTRENST00000584450ENST00000398579ERBB2chr17

37872192

+SRCIN1chr17

36699371

-
5CDS-intronENST00000269571ENST00000264659ERBB2chr17

37872192

+SRCIN1chr17

36699371

-
5CDS-intronENST00000269571ENST00000578925ERBB2chr17

37872192

+SRCIN1chr17

36699371

-
5CDS-5UTRENST00000269571ENST00000398579ERBB2chr17

37872192

+SRCIN1chr17

36699371

-
5CDS-intronENST00000578199ENST00000264659ERBB2chr17

37872192

+SRCIN1chr17

36699371

-
5CDS-intronENST00000578199ENST00000578925ERBB2chr17

37872192

+SRCIN1chr17

36699371

-
5CDS-5UTRENST00000578199ENST00000398579ERBB2chr17

37872192

+SRCIN1chr17

36699371

-
5CDS-intronENST00000540042ENST00000264659ERBB2chr17

37872192

+SRCIN1chr17

36699371

-
5CDS-intronENST00000540042ENST00000578925ERBB2chr17

37872192

+SRCIN1chr17

36699371

-
5CDS-5UTRENST00000540042ENST00000398579ERBB2chr17

37872192

+SRCIN1chr17

36699371

-
intron-intronENST00000584888ENST00000264659ERBB2chr17

37872192

+SRCIN1chr17

36699371

-
intron-intronENST00000584888ENST00000578925ERBB2chr17

37872192

+SRCIN1chr17

36699371

-
intron-5UTRENST00000584888ENST00000398579ERBB2chr17

37872192

+SRCIN1chr17

36699371

-

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FusionProtFeatures for ERBB2_SRCIN1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ERBB2

P04626

SRCIN1

Q9C0H9

Protein tyrosine kinase that is part of several cellsurface receptor complexes, but that apparently needs a coreceptorfor ligand binding. Essential component of a neuregulin-receptorcomplex, although neuregulins do not interact with it alone. GP30is a potential ligand for this receptor. Regulates outgrowth andstabilization of peripheral microtubules (MTs). Upon ERBB2activation, the MEMO1-RHOA-DIAPH1 signaling pathway elicits thephosphorylation and thus the inhibition of GSK3B at cell membrane.This prevents the phosphorylation of APC and CLASP2, allowing itsassociation with the cell membrane. In turn, membrane-bound APCallows the localization of MACF1 to the cell membrane, which isrequired for microtubule capture and stabilization. {ECO:0000305}. In the nucleus is involved in transcriptionalregulation. Associates with the 5'-TCAAATTC-3' sequence in thePTGS2/COX-2 promoter and activates its transcription. Implicatedin transcriptional activation of CDKN1A; the function involvesSTAT3 and SRC. Involved in the transcription of rRNA genes by RNAPol I and enhances protein synthesis and cell growth.{ECO:0000269|PubMed:10358079, ECO:0000269|PubMed:15380516,ECO:0000269|PubMed:21555369}. Acts as a negative regulator of SRC by activating CSKwhich inhibits SRC activity and downstream signaling, leading toimpaired cell spreading and migration. Regulates dendritic spinemorphology. Involved in calcium-dependent exocytosis. May play arole in neurotransmitter release or synapse maintenance.{ECO:0000269|PubMed:14657239, ECO:0000269|PubMed:17525734,ECO:0000269|PubMed:19146815}.

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 ERBB2_SRCIN1


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 ERBB2_SRCIN1


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
ERBB2SHC1, SH3BGRL, PTPN11, GRB2, MUC1, CTNNB1, ERBB2, CD82, EGF, PAK1, ERBB2IP, PICK1, PIK3R2, DLG4, ERBB4, NRG1, JUP, STAT3, SRC, JAK2, HSP90B1, CD44, GRB7, PLCG1, IL6ST, OSMR, PTK2B, HSP90AA1, ELF3, EGFR, ERBB3, HDAC6, LRIG1, STUB1, HSPA4, IGF1R, CUL5, ESR1, PPP1R13B, H2AFY, PIK3R1, PIN1, PTK6, ACTB, POLR1B, KPNB1, XPO1, CLTC, AP2B1, EEA1, APBB1, SH2B2, IRS4, SH2D1B, SOCS1, NCK2, DAB1, GRAP2, APBB3, ABL1, FGR, CHN1, FER, PLCG2, RASA1, JAK1, IRS1, STAT1, MATK, TEC, TXK, ABL2, SYK, CRK, CRKL, BLK, BMX, VAV2, SH3BP2, SHC2, ITK, SLA, MAPK8IP2, RIN1, BCAR3, TENC1, TNS3, DOK6, SH2D5, SUPT6H, ANKS1B, CLNK, DOK4, BLNK, RIN2, SHC3, PIK3R3, ANKS1A, VAV1, DOK1, SH2D3A, SLA2, SH2D2A, CISH, VAV3, MAPK8IP1, SH2B3, TLN1, SRPK1, CBL, ERRFI1, FRS3, USP2, NXF1, DTWD2, TGFBR2, NAALADL2, LPAR6, VSIG4, PTGER3, CYP17A1, GLCE, IL13RA2, KLK5, LYPD3, NAT2, PRDM14, PSMC3IP, RHOBTB2, THRSP, ANXA6, BAI1, CLCN6, GMPR2, HDLBP, IARS, MTCH1, MUCL1, PHF23, POLD2, PSAP, STK24, TCEAL2, ATP6AP1, TTC9B, UTP18, ATP1A1, EEF1G, TNPO1, PC, SURF4, TFRC, VAPB, PTDSS1, HPSE, ZNF280C, CCDC88A, ZNF622, BTC, PTK2, TGFA, BCAR1, ESRRB, CDC37, EZR, RDX, ITGAV, L1CAM, ITGB1, CHEK2, TOP1, RRM2, CDK4, CDH2, CDH1, PTPN6, PTPRR, PTPRT, PTPRU, PTPRA, PTPRH, MPZL2, SSH1, CD79B, MAS1, HAVCR2, IL4R, PPM1A, PPM1F, ILKAP, DUSP14, DUSP18, DUSP19, STYX, GAB1SRCIN1BCAR1, CRK, SNAP25, SRC, CSK, SORBS3, SYP, NUFIP1, BCAS4, CKAP5, CDH1


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 ERBB2_SRCIN1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneERBB2P04626DB06366PertuzumabReceptor tyrosine-protein kinase erbB-2biotechapproved
HgeneERBB2P04626DB08916AfatinibReceptor tyrosine-protein kinase erbB-2small moleculeapproved
HgeneERBB2P04626DB00072TrastuzumabReceptor tyrosine-protein kinase erbB-2biotechapproved|investigational
HgeneERBB2P04626DB01259LapatinibReceptor tyrosine-protein kinase erbB-2small moleculeapproved|investigational
HgeneERBB2P04626DB05773Trastuzumab emtansineReceptor tyrosine-protein kinase erbB-2biotechapproved|investigational

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RelatedDiseases for ERBB2_SRCIN1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneERBB2C1458155Mammary Neoplasms40CTD_human
HgeneERBB2C0033578Prostatic Neoplasms3CTD_human
HgeneERBB2C0038356Stomach Neoplasms3CTD_human
HgeneERBB2C0001418Adenocarcinoma2CTD_human
HgeneERBB2C0024668Mammary Neoplasms, Experimental2CTD_human
HgeneERBB2C0919267ovarian neoplasm2CTD_human
HgeneERBB2C0007117Basal cell carcinoma1CTD_human
HgeneERBB2C0007134Renal Cell Carcinoma1CTD_human
HgeneERBB2C0009375Colonic Neoplasms1CTD_human
HgeneERBB2C0014859Esophageal Neoplasms1CTD_human
HgeneERBB2C0016978gallbladder neoplasm1CTD_human
HgeneERBB2C0017185Gastrointestinal Neoplasms1CTD_human
HgeneERBB2C0024121Lung Neoplasms1CTD_human
HgeneERBB2C0024232Lymphatic Metastasis1CTD_human
HgeneERBB2C0024667Animal Mammary Neoplasms1CTD_human
HgeneERBB2C0025149Medulloblastoma1CTD_human
HgeneERBB2C0027627Neoplasm Metastasis1CTD_human
HgeneERBB2C0027643Neoplasm Recurrence, Local1CTD_human
HgeneERBB2C0027659Neoplasms, Experimental1CTD_human
HgeneERBB2C0030354Papilloma1CTD_human
HgeneERBB2C0206698Cholangiocarcinoma1CTD_human
HgeneERBB2C0596263Carcinogenesis1CTD_human
HgeneERBB2C2931822Nasopharyngeal carcinoma1CTD_human