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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: 23179

FusionGeneSummary for MYO6_CADM2

check button Fusion gene summary
Fusion gene informationFusion gene name: MYO6_CADM2
Fusion gene ID: 23179
HgeneTgene
Gene symbol

MYO6

CADM2

Gene ID

4646

253559

Gene namemyosin VIcell adhesion molecule 2
SynonymsDFNA22|DFNB37|Myo6-007|Myo6-008IGSF4D|NECL3|Necl-3|SynCAM 2|synCAM2
Cytomap

6q14.1

3p12.1

Type of geneprotein-codingprotein-coding
Descriptionunconventional myosin-VImyosin VI transcript variant 007myosin VI transcript variant 008unconventional myosin-6cell adhesion molecule 2immunoglobulin superfamily member 4Dnectin-like 3nectin-like protein 3synaptic cell adhesion molecule 2
Modification date2018052720180519
UniProtAcc

Q9UM54

Q8N3J6

Ensembl transtripts involved in fusion geneENST00000369981, ENST00000369985, 
ENST00000369977, ENST00000369975, 
ENST00000462633, 
ENST00000383699, 
ENST00000407528, ENST00000405615, 
ENST00000485126, 
Fusion gene scores* DoF score9 X 8 X 8=5768 X 5 X 6=240
# samples 179
** MAII scorelog2(17/576*10)=-1.76053406530461
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(9/240*10)=-1.41503749927884
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MYO6 [Title/Abstract] AND CADM2 [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
HgeneMYO6

GO:0030330

DNA damage response, signal transduction by p53 class mediator

16507995


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
TCGALDPRADTCGA-CH-5768-01AMYO6chr6

76459140

+CADM2chr3

85851197

+
* 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
5UTR-3CDSENST00000369981ENST00000383699MYO6chr6

76459140

+CADM2chr3

85851197

+
5UTR-3CDSENST00000369981ENST00000407528MYO6chr6

76459140

+CADM2chr3

85851197

+
5UTR-3CDSENST00000369981ENST00000405615MYO6chr6

76459140

+CADM2chr3

85851197

+
5UTR-intronENST00000369981ENST00000485126MYO6chr6

76459140

+CADM2chr3

85851197

+
5UTR-3CDSENST00000369985ENST00000383699MYO6chr6

76459140

+CADM2chr3

85851197

+
5UTR-3CDSENST00000369985ENST00000407528MYO6chr6

76459140

+CADM2chr3

85851197

+
5UTR-3CDSENST00000369985ENST00000405615MYO6chr6

76459140

+CADM2chr3

85851197

+
5UTR-intronENST00000369985ENST00000485126MYO6chr6

76459140

+CADM2chr3

85851197

+
5UTR-3CDSENST00000369977ENST00000383699MYO6chr6

76459140

+CADM2chr3

85851197

+
5UTR-3CDSENST00000369977ENST00000407528MYO6chr6

76459140

+CADM2chr3

85851197

+
5UTR-3CDSENST00000369977ENST00000405615MYO6chr6

76459140

+CADM2chr3

85851197

+
5UTR-intronENST00000369977ENST00000485126MYO6chr6

76459140

+CADM2chr3

85851197

+
intron-3CDSENST00000369975ENST00000383699MYO6chr6

76459140

+CADM2chr3

85851197

+
intron-3CDSENST00000369975ENST00000407528MYO6chr6

76459140

+CADM2chr3

85851197

+
intron-3CDSENST00000369975ENST00000405615MYO6chr6

76459140

+CADM2chr3

85851197

+
intron-intronENST00000369975ENST00000485126MYO6chr6

76459140

+CADM2chr3

85851197

+
intron-3CDSENST00000462633ENST00000383699MYO6chr6

76459140

+CADM2chr3

85851197

+
intron-3CDSENST00000462633ENST00000407528MYO6chr6

76459140

+CADM2chr3

85851197

+
intron-3CDSENST00000462633ENST00000405615MYO6chr6

76459140

+CADM2chr3

85851197

+
intron-intronENST00000462633ENST00000485126MYO6chr6

76459140

+CADM2chr3

85851197

+

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FusionProtFeatures for MYO6_CADM2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MYO6

Q9UM54

CADM2

Q8N3J6

Myosins are actin-based motor molecules with ATPaseactivity. Unconventional myosins serve in intracellular movements.Myosin 6 is a reverse-direction motor protein that moves towardsthe minus-end of actin filaments. Has slow rate of actin-activatedADP release due to weak ATP binding. Functions in a variety ofintracellular processes such as vesicular membrane trafficking andcell migration. Required for the structural integrity of the Golgiapparatus via the p53-dependent pro-survival pathway. Appears tobe involved in a very early step of clathrin-mediated endocytosisin polarized epithelial cells. May act as a regulator of F-actindynamics. May play a role in transporting DAB2 from the plasmamembrane to specific cellular targets. Required for structuralintegrity of inner ear hair cells (By similarity). {ECO:0000250,ECO:0000269|PubMed:10519557, ECO:0000269|PubMed:11447109,ECO:0000269|PubMed:16507995, ECO:0000269|PubMed:16949370}. Adhesion molecule that engages in homo- and heterophilicinteractions with the other nectin-like family members, leading tocell aggregation. Important for synapse organization, providingregulated trans-synaptic adhesion. Preferentially binds tooligodendrocytes. {ECO:0000269|PubMed:17967169}.

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 MYO6_CADM2


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 MYO6_CADM2


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
MYO6DAB2, GIPC1, CALM2, DAB1, CYLD, USP11, USP25, CDC42, APC, UBC, SP1, TAX1BP1, CALCOCO2, FBXO25, OPTN, LMTK2, AP2A1, CLTC, PAK1, CAPZA1, POLR2A, ESR1, RNF11, TOM1, TOM1L2, MYO6, PARK2, PAN2, FBXO6, TP53, ENO1, MOV10, NXF1, ALK, ABCE1, CDH1, NTRK1, DPP9, DNAJC2, G6PD, PAK2, RAD23A, RAD23B, NHLRC2, CAPZA2, CDK2, CLTB, DBN1, FLNA, GAK, MYH9, PPP1CB, PICALM, ACTR2, SYNPO, GTSE1, ANLN, MYO5C, MYO19, MYO18A, CFTR, RNF126, UBXN1, SEC16A, AP2B1, AP2A2, AP2M1, CLINT1, PIK3C2A, EPS15, REPS2, COPB2, DDB1, EPRS, VPRBP, DCTN1, GTPBP4, ARHGEF12, YTHDC2, DCTN2, DOCK7, POTEI, FBXO34, PPP1R9A, CUEDC1, FBXO30, TMOD2, ACTBL2, GSN, REPS1, WBP2, COX15, DLST, HSD17B10, PDHA1, G3BP1CADM2NUFIP1


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 MYO6_CADM2


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 MYO6_CADM2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMYO6C2931767Deafness, autosomal dominant nonsyndromic sensorineural 222CTD_human;ORPHANET;UNIPROT
HgeneMYO6C0236969Substance-Related Disorders1CTD_human
HgeneMYO6C1843028Deafness, Autosomal Recessive 371CTD_human;UNIPROT