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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: 1032

FusionGeneSummary for AFG3L2_TIAM1

check button Fusion gene summary
Fusion gene informationFusion gene name: AFG3L2_TIAM1
Fusion gene ID: 1032
HgeneTgene
Gene symbol

AFG3L2

TIAM1

Gene ID

10939

7074

Gene nameAFG3 like matrix AAA peptidase subunit 2T cell lymphoma invasion and metastasis 1
SynonymsSCA28|SPAX5TIAM-1
Cytomap

18p11.21

21q22.11

Type of geneprotein-codingprotein-coding
DescriptionAFG3-like protein 2AFG3 ATPase family gene 3-like 2AFG3 ATPase family member 3-like 2AFG3 like AAA ATPase 2ATPase family gene 3, yeastparaplegin-like proteinT-lymphoma invasion and metastasis-inducing protein 1human T-lymphoma invasion and metastasis inducing TIAM1 protein
Modification date2018052320180522
UniProtAcc

Q9Y4W6

Q13009

Ensembl transtripts involved in fusion geneENST00000269143, ENST00000286827, 
ENST00000541036, ENST00000469412, 
Fusion gene scores* DoF score2 X 2 X 2=83 X 3 X 3=27
# samples 23
** MAII scorelog2(2/8*10)=1.32192809488736log2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: AFG3L2 [Title/Abstract] AND TIAM1 [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
TgeneTIAM1

GO:0008284

positive regulation of cell proliferation

25032858

TgeneTIAM1

GO:0010717

regulation of epithelial to mesenchymal transition

20826792

TgeneTIAM1

GO:0030335

positive regulation of cell migration

25032858

TgeneTIAM1

GO:0032092

positive regulation of protein binding

23109420

TgeneTIAM1

GO:0090630

activation of GTPase activity

23109420


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
TCGARVLUADTCGA-O1-A52J-01AAFG3L2chr18

12337340

-TIAM1chr21

32503266

-
* 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-shitENST00000269143ENST00000286827AFG3L2chr18

12337340

-TIAM1chr21

32503266

-
Frame-shitENST00000269143ENST00000541036AFG3L2chr18

12337340

-TIAM1chr21

32503266

-
5CDS-intronENST00000269143ENST00000469412AFG3L2chr18

12337340

-TIAM1chr21

32503266

-

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FusionProtFeatures for AFG3L2_TIAM1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
AFG3L2

Q9Y4W6

TIAM1

Q13009

ATP-dependent protease which is essential for axonal andneuron development. In neurons, mediates degradation of SMDT1/EMREbefore its assembly with the uniporter complex, limiting theavailability of SMDT1/EMRE for MCU assembly and promotingefficient assembly of gatekeeper subunits with MCU(PubMed:27642048). Required for the maturation of paraplegin(SPG7) after its cleavage by mitochondrial-processing peptidase(MPP), converting it into a proteolytically active mature form (Bysimilarity). {ECO:0000250|UniProtKB:Q8JZQ2,ECO:0000269|PubMed:27642048}. Modulates the activity of RHO-like proteins and connectsextracellular signals to cytoskeletal activities. Acts as a GDP-dissociation stimulator protein that stimulates the GDP-GTPexchange activity of RHO-like GTPases and activates them.Activates RAC1, CDC42, and to a lesser extent RHOA. Required fornormal cell adhesion and cell migration.{ECO:0000269|PubMed:20361982}.

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 AFG3L2_TIAM1


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 AFG3L2_TIAM1


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
AFG3L2PHC2, USP50, BECN1, CLN3, ICT1, MAPK8IP2, RAC2, APP, BTK, HIPK4, FBXO6, CCDC8, SUZ12, RNF2, EGFR, AK2, ATP5F1, CYC1, HSD17B12, NDUFA9, NDUFS1, NDUFS8, SLC25A3, UQCRC2, ATP1A1, ATP5A1, PHB, PHB2, RPN1, TMCO1, UQCRQ, NTRK1, BTRC, MED20, NDUFA11, NDUFA13, TIMMDC1, ELL2, GBA2, TUBA1C, TGS1, NEDD1, RBM45, USF1, NF2, C2orf47, NDUFA4, COQ9, C15orf48, CISD3, OCIAD1, PTPMT1, CCDC58, COQ2, CHCHD2, PDP2, INTU, CYLD, TRIM25TIAM1PPP1R9B, MAPK8IP2, MAPK8IP1, RAC1, HRAS, MYC, CD44, PRKCA, PRKCB, PRKCG, PRKCE, PRKCD, PRKCZ, ANK1, ANK3, NME1, YWHAG, WHSC1, UBC, ALB, YWHAE, CFTR, BTRC, CSNK1A1, CSNK1E, FBXW11, DARS, KBTBD6, KBTBD7, CTDSPL, KCTD3, KIF13B, ZBTB21, KSR1, GIGYF1, LRFN1, DENND1A, SH3PXD2A, SRGAP2, EIF4E2, SIPA1L1, CGN, RTKN, MAST3, LIMA1, MAGI1, PPM1H, TESK2, DCLK1, ZNF638, DENND4C, SRSF12, SYDE1, AGAP1, CDC25B, CDK16, HDAC4, MAPKAP1, NF1, FAM110B, USP21, CBY1, ANKRD34A, FAM53C, NADK, CDC25C, FAM110A, CAMSAP2, KIAA1804, RASAL2, GIGYF2, PHLDB2, PLEKHA7, KIF1C, INPP5E


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 AFG3L2_TIAM1


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 AFG3L2_TIAM1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneAFG3L2C1853249SPINOCEREBELLAR ATAXIA 285CTD_human;ORPHANET;UNIPROT
HgeneAFG3L2C0087012Ataxia, Spinocerebellar1CTD_human
HgeneAFG3L2C0751778Myoclonic Epilepsies, Progressive1CTD_human;HPO
HgeneAFG3L2C3280977SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE1ORPHANET;UNIPROT
TgeneTIAM1C1862939AMYOTROPHIC LATERAL SCLEROSIS 11CTD_human