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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: 11314

FusionGeneSummary for EIF4EBP1_ADAM12

check button Fusion gene summary
Fusion gene informationFusion gene name: EIF4EBP1_ADAM12
Fusion gene ID: 11314
HgeneTgene
Gene symbol

EIF4EBP1

ADAM12

Gene ID

1978

8038

Gene nameeukaryotic translation initiation factor 4E binding protein 1ADAM metallopeptidase domain 12
Synonyms4E-BP1|4EBP1|BP-1|PHAS-IADAM12-OT1|CAR10|MCMP|MCMPMltna|MLTN|MLTNA
Cytomap

8p11.23

10q26.2

Type of geneprotein-codingprotein-coding
Descriptioneukaryotic translation initiation factor 4E-binding protein 1eIF4E-binding protein 1phosphorylated heat- and acid-stable protein regulated by insulin 1disintegrin and metalloproteinase domain-containing protein 12meltrin-alphametalloprotease-disintegrin 12 transmembrane
Modification date2018052320180522
UniProtAcc

Q13541

O43184

Ensembl transtripts involved in fusion geneENST00000338825, ENST00000520657, 
ENST00000368679, ENST00000368676, 
ENST00000467145, 
Fusion gene scores* DoF score4 X 1 X 3=1213 X 14 X 4=728
# samples 417
** MAII scorelog2(4/12*10)=1.73696559416621
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(17/728*10)=-2.09840370406099
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: EIF4EBP1 [Title/Abstract] AND ADAM12 [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
HgeneEIF4EBP1

GO:0031929

TOR signaling

12150926|22578813

HgeneEIF4EBP1

GO:0045947

negative regulation of translational initiation

22578813


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-C8-A1HN-01AEIF4EBP1chr8

37888236

+ADAM12chr10

127734701

-
* 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-shitENST00000338825ENST00000368679EIF4EBP1chr8

37888236

+ADAM12chr10

127734701

-
Frame-shitENST00000338825ENST00000368676EIF4EBP1chr8

37888236

+ADAM12chr10

127734701

-
5CDS-intronENST00000338825ENST00000467145EIF4EBP1chr8

37888236

+ADAM12chr10

127734701

-
intron-3CDSENST00000520657ENST00000368679EIF4EBP1chr8

37888236

+ADAM12chr10

127734701

-
intron-3CDSENST00000520657ENST00000368676EIF4EBP1chr8

37888236

+ADAM12chr10

127734701

-
intron-intronENST00000520657ENST00000467145EIF4EBP1chr8

37888236

+ADAM12chr10

127734701

-

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FusionProtFeatures for EIF4EBP1_ADAM12


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
EIF4EBP1

Q13541

ADAM12

O43184

Repressor of translation initiation that regulates EIF4Eactivity by preventing its assembly into the eIF4F complex:hypophosphorylated form competes with EIF4G1/EIF4G3 and stronglybinds to EIF4E, leading to repress translation. In contrast,hyperphosphorylated form dissociates from EIF4E, allowinginteraction between EIF4G1/EIF4G3 and EIF4E, leading to initiationof translation. Mediates the regulation of protein translation byhormones, growth factors and other stimuli that signal through theMAP kinase and mTORC1 pathways. {ECO:0000269|PubMed:22578813,ECO:0000269|PubMed:7935836}. Involved in skeletal muscle regeneration, specificallyat the onset of cell fusion. Also involved in macrophage-derivedgiant cells (MGC) and osteoclast formation from mononuclearprecursors (By similarity). {ECO:0000250}.

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 EIF4EBP1_ADAM12


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 EIF4EBP1_ADAM12


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
EIF4EBP1CHTF8, EIF4E, UBAC1, ATM, MTOR, LRPAP1, PPP2R2A, RPTOR, GSK3B, IRAK4, PRKCA, KLHL25, MAPK1, AGO2, LRRK2, MAPK14, STK3, PPP2R4, PRKDC, LATS1, SLMAP, MLST8, REL, TCF4, AKT2, AKT3, CCDC94, CHMP2A, DDX1, FLNB, GGA1, HNRNPA1, SHMT2, HNRNPAB, AKT1, BUB1, MAPKAPK5, TRIM25ADAM12IGFBP3, ACTN2, IGFBP5, PIK3R1, YARS2


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 EIF4EBP1_ADAM12


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 EIF4EBP1_ADAM12


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneEIF4EBP1C0019693HIV Infections1CTD_human
HgeneEIF4EBP1C0022665Kidney Neoplasm1CTD_human
HgeneEIF4EBP1C0023467Leukemia, Myelocytic, Acute1CTD_human
HgeneEIF4EBP1C0334634Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse1CTD_human
TgeneADAM12C0036341Schizophrenia1PSYGENET