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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: 22095

FusionGeneSummary for MKLN1_AMTN

check button Fusion gene summary
Fusion gene informationFusion gene name: MKLN1_AMTN
Fusion gene ID: 22095
HgeneTgene
Gene symbol

MKLN1

AMTN

Gene ID

4289

401138

Gene namemuskelin 1amelotin
SynonymsTWA2AI3B|UNQ689
Cytomap

7q32.3

4q13.3

Type of geneprotein-codingprotein-coding
Descriptionmuskelinmuskelin 1, intracellular mediator containing kelch motifsamelotinRSTI689
Modification date2018052220180523
UniProtAcc

Q9UL63

Q6UX39

Ensembl transtripts involved in fusion geneENST00000421797, ENST00000429546, 
ENST00000352689, ENST00000498778, 
ENST00000339336, ENST00000504451, 
Fusion gene scores* DoF score9 X 9 X 6=4862 X 2 X 2=8
# samples 92
** MAII scorelog2(9/486*10)=-2.43295940727611
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/8*10)=1.32192809488736
Context

PubMed: MKLN1 [Title/Abstract] AND AMTN [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
TgeneAMTN

GO:0070169

positive regulation of biomineral tissue development

25407797


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
TCGARVPRADTCGA-HC-7821-01AMKLN1chr7

130887733

+AMTNchr4

71394440

+
* 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-3CDSENST00000421797ENST00000339336MKLN1chr7

130887733

+AMTNchr4

71394440

+
intron-3CDSENST00000421797ENST00000504451MKLN1chr7

130887733

+AMTNchr4

71394440

+
intron-3CDSENST00000429546ENST00000339336MKLN1chr7

130887733

+AMTNchr4

71394440

+
intron-3CDSENST00000429546ENST00000504451MKLN1chr7

130887733

+AMTNchr4

71394440

+
intron-3CDSENST00000352689ENST00000339336MKLN1chr7

130887733

+AMTNchr4

71394440

+
intron-3CDSENST00000352689ENST00000504451MKLN1chr7

130887733

+AMTNchr4

71394440

+
intron-3CDSENST00000498778ENST00000339336MKLN1chr7

130887733

+AMTNchr4

71394440

+
intron-3CDSENST00000498778ENST00000504451MKLN1chr7

130887733

+AMTNchr4

71394440

+

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FusionProtFeatures for MKLN1_AMTN


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MKLN1

Q9UL63

AMTN

Q6UX39

Acts as a mediator of cell spreading and cytoskeletalresponses to the extracellular matrix component THBS1.{ECO:0000250|UniProtKB:O89050}. Is a promoter of calcium phosphate mineralization,playing a critical role in the formation of the compact,mineralized, aprismatic enamel surface layer during the maturationstage of amelogenesis. {ECO:0000269|PubMed:25407797}.

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 MKLN1_AMTN


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 MKLN1_AMTN


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
MKLN1RNPS1, MYC, RANBP9, ELAVL1, MKLN1, MAEA, GID8, RMND5A, SOX2, PTGER3, GDNF, GLIPR1L2, MMP7, SFRP2, TDGF1, GGH, MRPL4, GPS2, NR1H3, HLA-DPB1, ADCYAP1, PRG2, IFI30, UNK, DYNC1H1, BMP1, PRG3, INSL6, PIGT, CCDC120, TIGD5, SUCLA2, NFATC1, LILRB4, CARKD, IKZF1, C4orf27, TLE4, ARMC8, ZMYND19, GID4, HTRA2, WDR26, PMFBP1, AAMP, MMADHC, HSPBP1, LONP1, RSPH10B, NDUFS2, SOAT1, RMND5B, YPEL5, RANBP10, RAB8A, TRIM25AMTNLRRC40, SEC24D, PTPN1, RABL6, NARS, CYB5R3, PPID, CDK5RAP3, GINS4


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 MKLN1_AMTN


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 MKLN1_AMTN


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