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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: 567

FusionGeneSummary for ACTG2_ALK

check button Fusion gene summary
Fusion gene informationFusion gene name: ACTG2_ALK
Fusion gene ID: 567
HgeneTgene
Gene symbol

ACTG2

ALK

Gene ID

72

238

Gene nameactin, gamma 2, smooth muscle, entericALK receptor tyrosine kinase
SynonymsACT|ACTA3|ACTE|ACTL3|ACTSG|VSCMCD246|NBLST3
Cytomap

2p13.1

2p23.2-p23.1

Type of geneprotein-codingprotein-coding
Descriptionactin, gamma-enteric smooth muscleactin-like proteinalpha-actin-3ALK tyrosine kinase receptorCD246 antigenanaplastic lymphoma receptor tyrosine kinasemutant anaplastic lymphoma kinase
Modification date2018051920180527
UniProtAcc

P63267

Q9UM73

Ensembl transtripts involved in fusion geneENST00000409731, ENST00000345517, 
ENST00000409918, ENST00000409624, 
ENST00000389048, ENST00000431873, 
ENST00000498037, 
Fusion gene scores* DoF score3 X 5 X 2=3024 X 23 X 10=5520
# samples 546
** MAII scorelog2(5/30*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(46/5520*10)=-3.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ACTG2 [Title/Abstract] AND ALK [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
TgeneALK

GO:0016310

phosphorylation

9174053

TgeneALK

GO:0046777

protein autophosphorylation

9174053


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
TCGARVSARCTCGA-IW-A3M6-01AACTG2chr2

74128564

+ALKchr2

29449940

-
* 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-shiftENST00000409731ENST00000389048ACTG2chr2

74128564

+ALKchr2

29449940

-
5CDS-intronENST00000409731ENST00000431873ACTG2chr2

74128564

+ALKchr2

29449940

-
5CDS-intronENST00000409731ENST00000498037ACTG2chr2

74128564

+ALKchr2

29449940

-
Frame-shiftENST00000345517ENST00000389048ACTG2chr2

74128564

+ALKchr2

29449940

-
5CDS-intronENST00000345517ENST00000431873ACTG2chr2

74128564

+ALKchr2

29449940

-
5CDS-intronENST00000345517ENST00000498037ACTG2chr2

74128564

+ALKchr2

29449940

-
Frame-shiftENST00000409918ENST00000389048ACTG2chr2

74128564

+ALKchr2

29449940

-
5CDS-intronENST00000409918ENST00000431873ACTG2chr2

74128564

+ALKchr2

29449940

-
5CDS-intronENST00000409918ENST00000498037ACTG2chr2

74128564

+ALKchr2

29449940

-
Frame-shiftENST00000409624ENST00000389048ACTG2chr2

74128564

+ALKchr2

29449940

-
5CDS-intronENST00000409624ENST00000431873ACTG2chr2

74128564

+ALKchr2

29449940

-
5CDS-intronENST00000409624ENST00000498037ACTG2chr2

74128564

+ALKchr2

29449940

-

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FusionProtFeatures for ACTG2_ALK


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ACTG2

P63267

ALK

Q9UM73

Actins are highly conserved proteins that are involvedin various types of cell motility and are ubiquitously expressedin all eukaryotic cells. Neuronal receptor tyrosine kinase that is essentiallyand transiently expressed in specific regions of the central andperipheral nervous systems and plays an important role in thegenesis and differentiation of the nervous system. Transducessignals from ligands at the cell surface, through specificactivation of the mitogen-activated protein kinase (MAPK) pathway.Phosphorylates almost exclusively at the first tyrosine of the Y-x-x-x-Y-Y motif. Following activation by ligand, ALK inducestyrosine phosphorylation of CBL, FRS2, IRS1 and SHC1, as well asof the MAP kinases MAPK1/ERK2 and MAPK3/ERK1. Acts as a receptorfor ligands pleiotrophin (PTN), a secreted growth factor, andmidkine (MDK), a PTN-related factor, thus participating in PTN andMDK signal transduction. PTN-binding induces MAPK pathwayactivation, which is important for the anti-apoptotic signaling ofPTN and regulation of cell proliferation. MDK-binding inducesphosphorylation of the ALK target insulin receptor substrate(IRS1), activates mitogen-activated protein kinases (MAPKs) andPI3-kinase, resulting also in cell proliferation induction. DrivesNF-kappa-B activation, probably through IRS1 and the activation ofthe AKT serine/threonine kinase. Recruitment of IRS1 to activatedALK and the activation of NF-kappa-B are essential for theautocrine growth and survival signaling of MDK.{ECO:0000269|PubMed:11121404, ECO:0000269|PubMed:11278720,ECO:0000269|PubMed:11387242, ECO:0000269|PubMed:11809760,ECO:0000269|PubMed:12107166, ECO:0000269|PubMed:12122009,ECO:0000269|PubMed:15226403, ECO:0000269|PubMed:15908427,ECO:0000269|PubMed:16317043, ECO:0000269|PubMed:16878150,ECO:0000269|PubMed:17274988}.

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 ACTG2_ALK


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 ACTG2_ALK


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
ACTG2EMD, KAT5, CBL, NOP56, ARRB2, SHBG, LRRK2, MLH1, UBL4A, KCNMA1, ERRFI1, FOXRED2, FAF2, NEB, MCM2, ERBB3ALKPTN, SHC1, PLCG1, JAK3, SHC3, RAB35, HSPD1, MAP3K4, GRB2, SOCS1, PIK3CB, RAD17, IRF7, EPHB2, EIF4B, MAPK8IP3, CENPF, PLCB2, PDX1, STAT3, MAP2K7, JAK2, MAP3K5, MEP1B, GAK, EPHA1, UBASH3A, MTIF2, MYLK, MAP3K1, MAPK1, SOCS5, CDK13, SMC6, IRS4, KRT18, KRT74, IRS1, IKBKG, ZC3HC1, TNK2, ERRFI1, PIK3R1, HSP90AA1, BCAR1, ACTB, PDLIM3, VIM, TUBB4B, MYO6, MYH10, MYH9, TUBGCP2, ACTN4, CORO1C, FLII, BICD2, GNB2L1, SRC, PXN, PRKCQ, MYBPC2, CDK9, PPM1A, DUSP19


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 ACTG2_ALK


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneALKQ9UM73DB08865CrizotinibALK tyrosine kinase receptorsmall moleculeapproved
TgeneALKQ9UM73DB09063CeritinibALK tyrosine kinase receptorsmall moleculeapproved

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RelatedDiseases for ACTG2_ALK


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneACTG2C0042781Visceral Myopathy3UNIPROT
HgeneACTG2C1608393Megacystis microcolon intestinal hypoperistalsis syndrome2CTD_human;ORPHANET
HgeneACTG2C0009375Colonic Neoplasms1CTD_human
HgeneACTG2C0266833Visceral Myopathy, Familial1CTD_human;ORPHANET
TgeneALKC0007131Non-Small Cell Lung Carcinoma28CTD_human
TgeneALKC0027819Neuroblastoma12CTD_human;ORPHANET
TgeneALKC0152013Adenocarcinoma of lung (disorder)8CTD_human
TgeneALKC0206180Ki-1+ Anaplastic Large Cell Lymphoma6CTD_human
TgeneALKC2751681NEUROBLASTOMA, SUSCEPTIBILITY TO, 34UNIPROT
TgeneALKC0018199Granuloma, Plasma Cell3CTD_human
TgeneALKC0007621Neoplastic Cell Transformation2CTD_human
TgeneALKC0027627Neoplasm Metastasis2CTD_human
TgeneALKC0001973Alcoholic Intoxication, Chronic1PSYGENET
TgeneALKC0006118Brain Neoplasms1CTD_human
TgeneALKC0007134Renal Cell Carcinoma1CTD_human
TgeneALKC0011570Mental Depression1PSYGENET
TgeneALKC0011581Depressive disorder1PSYGENET
TgeneALKC0027643Neoplasm Recurrence, Local1CTD_human
TgeneALKC0036341Schizophrenia1PSYGENET
TgeneALKC0079744Diffuse Large B-Cell Lymphoma1CTD_human
TgeneALKC0085269Plasma Cell Granuloma, Pulmonary1CTD_human
TgeneALKC0278601Inflammatory Breast Carcinoma1CTD_human