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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: 11448

FusionGeneSummary for ELMO1_ADAM12

check button Fusion gene summary
Fusion gene informationFusion gene name: ELMO1_ADAM12
Fusion gene ID: 11448
HgeneTgene
Gene symbol

ELMO1

ADAM12

Gene ID

9844

8038

Gene nameengulfment and cell motility 1ADAM metallopeptidase domain 12
SynonymsCED-12|CED12|ELMO-1ADAM12-OT1|CAR10|MCMP|MCMPMltna|MLTN|MLTNA
Cytomap

7p14.2-p14.1

10q26.2

Type of geneprotein-codingprotein-coding
Descriptionengulfment and cell motility protein 1ced-12 homolog 1disintegrin and metalloproteinase domain-containing protein 12meltrin-alphametalloprotease-disintegrin 12 transmembrane
Modification date2018051920180522
UniProtAcc

Q92556

O43184

Ensembl transtripts involved in fusion geneENST00000341056, ENST00000396045, 
ENST00000310758, ENST00000396040, 
ENST00000442504, ENST00000448602, 
ENST00000479447, 		ENST00000368679, 
ENST00000368676, ENST00000467145, 
Fusion gene scores* DoF score7 X 7 X 3=14713 X 14 X 4=728
# samples 717
** MAII scorelog2(7/147*10)=-1.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
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: ELMO1 [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

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
ChiTaRS3.1BI051281ELMO1chr7

37214909

+ADAM12chr10

127734650

-
* 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-3CDSENST00000341056ENST00000368679ELMO1chr7

37214909

+ADAM12chr10

127734650

-
intron-3CDSENST00000341056ENST00000368676ELMO1chr7

37214909

+ADAM12chr10

127734650

-
intron-intronENST00000341056ENST00000467145ELMO1chr7

37214909

+ADAM12chr10

127734650

-
intron-3CDSENST00000396045ENST00000368679ELMO1chr7

37214909

+ADAM12chr10

127734650

-
intron-3CDSENST00000396045ENST00000368676ELMO1chr7

37214909

+ADAM12chr10

127734650

-
intron-intronENST00000396045ENST00000467145ELMO1chr7

37214909

+ADAM12chr10

127734650

-
intron-3CDSENST00000310758ENST00000368679ELMO1chr7

37214909

+ADAM12chr10

127734650

-
intron-3CDSENST00000310758ENST00000368676ELMO1chr7

37214909

+ADAM12chr10

127734650

-
intron-intronENST00000310758ENST00000467145ELMO1chr7

37214909

+ADAM12chr10

127734650

-
intron-3CDSENST00000396040ENST00000368679ELMO1chr7

37214909

+ADAM12chr10

127734650

-
intron-3CDSENST00000396040ENST00000368676ELMO1chr7

37214909

+ADAM12chr10

127734650

-
intron-intronENST00000396040ENST00000467145ELMO1chr7

37214909

+ADAM12chr10

127734650

-
intron-3CDSENST00000442504ENST00000368679ELMO1chr7

37214909

+ADAM12chr10

127734650

-
intron-3CDSENST00000442504ENST00000368676ELMO1chr7

37214909

+ADAM12chr10

127734650

-
intron-intronENST00000442504ENST00000467145ELMO1chr7

37214909

+ADAM12chr10

127734650

-
intron-3CDSENST00000448602ENST00000368679ELMO1chr7

37214909

+ADAM12chr10

127734650

-
intron-3CDSENST00000448602ENST00000368676ELMO1chr7

37214909

+ADAM12chr10

127734650

-
intron-intronENST00000448602ENST00000467145ELMO1chr7

37214909

+ADAM12chr10

127734650

-
intron-3CDSENST00000479447ENST00000368679ELMO1chr7

37214909

+ADAM12chr10

127734650

-
intron-3CDSENST00000479447ENST00000368676ELMO1chr7

37214909

+ADAM12chr10

127734650

-
intron-intronENST00000479447ENST00000467145ELMO1chr7

37214909

+ADAM12chr10

127734650

-

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FusionProtFeatures for ELMO1_ADAM12


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ELMO1

Q92556

ADAM12

O43184

Involved in cytoskeletal rearrangements required forphagocytosis of apoptotic cells and cell motility. Acts inassociation with DOCK1 and CRK. Was initially proposed to berequired in complex with DOCK1 to activate Rac Rho small GTPases.May enhance the guanine nucleotide exchange factor (GEF) activityof DOCK1. {ECO:0000269|PubMed:11595183,ECO:0000269|PubMed:12134158}. 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 ELMO1_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 ELMO1_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


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 ELMO1_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 ELMO1_ADAM12


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneELMO1C0011881Diabetic Nephropathy1CTD_human
HgeneELMO1C0038325Stevens-Johnson Syndrome1CTD_human
HgeneELMO1C0279628Adenocarcinoma Of Esophagus1CTD_human
TgeneADAM12C0036341Schizophrenia1PSYGENET