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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: 688

FusionGeneSummary for ADAM12_RABL6

check button Fusion gene summary
Fusion gene informationFusion gene name: ADAM12_RABL6
Fusion gene ID: 688
HgeneTgene
Gene symbol

ADAM12

RABL6

Gene ID

8038

55684

Gene nameADAM metallopeptidase domain 12RAB, member RAS oncogene family like 6
SynonymsADAM12-OT1|CAR10|MCMP|MCMPMltna|MLTN|MLTNAC9orf86|PARF|RBEL1|pp8875
Cytomap

10q26.2

9q34.3

Type of geneprotein-codingprotein-coding
Descriptiondisintegrin and metalloproteinase domain-containing protein 12meltrin-alphametalloprotease-disintegrin 12 transmembranerab-like protein 6Rab-like GTP-binding protein 1Cpartner of ARFputative GTP-binding protein Parf
Modification date2018052220180519
UniProtAcc

O43184

Q3YEC7

Ensembl transtripts involved in fusion geneENST00000368679, ENST00000368676, 
ENST00000467145, 
ENST00000371671, 
ENST00000371663, ENST00000311502, 
ENST00000357466, ENST00000432842, 
ENST00000371675, ENST00000466096, 
Fusion gene scores* DoF score13 X 14 X 1=1822 X 2 X 2=8
# samples 152
** MAII scorelog2(15/182*10)=-0.278975949702815
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/8*10)=1.32192809488736
Context

PubMed: ADAM12 [Title/Abstract] AND RABL6 [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
ChiTaRS3.1BE929380ADAM12chr10

128009733

-RABL6chr9

139704128

+
* 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
intron-intronENST00000368679ENST00000371671ADAM12chr10

128009733

-RABL6chr9

139704128

+
intron-intronENST00000368679ENST00000371663ADAM12chr10

128009733

-RABL6chr9

139704128

+
intron-intronENST00000368679ENST00000311502ADAM12chr10

128009733

-RABL6chr9

139704128

+
intron-intronENST00000368679ENST00000357466ADAM12chr10

128009733

-RABL6chr9

139704128

+
intron-intronENST00000368679ENST00000432842ADAM12chr10

128009733

-RABL6chr9

139704128

+
intron-intronENST00000368679ENST00000371675ADAM12chr10

128009733

-RABL6chr9

139704128

+
intron-intronENST00000368679ENST00000466096ADAM12chr10

128009733

-RABL6chr9

139704128

+
intron-intronENST00000368676ENST00000371671ADAM12chr10

128009733

-RABL6chr9

139704128

+
intron-intronENST00000368676ENST00000371663ADAM12chr10

128009733

-RABL6chr9

139704128

+
intron-intronENST00000368676ENST00000311502ADAM12chr10

128009733

-RABL6chr9

139704128

+
intron-intronENST00000368676ENST00000357466ADAM12chr10

128009733

-RABL6chr9

139704128

+
intron-intronENST00000368676ENST00000432842ADAM12chr10

128009733

-RABL6chr9

139704128

+
intron-intronENST00000368676ENST00000371675ADAM12chr10

128009733

-RABL6chr9

139704128

+
intron-intronENST00000368676ENST00000466096ADAM12chr10

128009733

-RABL6chr9

139704128

+
intron-intronENST00000467145ENST00000371671ADAM12chr10

128009733

-RABL6chr9

139704128

+
intron-intronENST00000467145ENST00000371663ADAM12chr10

128009733

-RABL6chr9

139704128

+
intron-intronENST00000467145ENST00000311502ADAM12chr10

128009733

-RABL6chr9

139704128

+
intron-intronENST00000467145ENST00000357466ADAM12chr10

128009733

-RABL6chr9

139704128

+
intron-intronENST00000467145ENST00000432842ADAM12chr10

128009733

-RABL6chr9

139704128

+
intron-intronENST00000467145ENST00000371675ADAM12chr10

128009733

-RABL6chr9

139704128

+
intron-intronENST00000467145ENST00000466096ADAM12chr10

128009733

-RABL6chr9

139704128

+

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FusionProtFeatures for ADAM12_RABL6


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ADAM12

O43184

RABL6

Q3YEC7

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 ADAM12_RABL6


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 ADAM12_RABL6


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


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 ADAM12_RABL6


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 ADAM12_RABL6


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneADAM12C0036341Schizophrenia1PSYGENET
TgeneRABL6C3714756Intellectual Disability1CTD_human