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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: 22103

FusionGeneSummary for MKLN1_NRF1

check button Fusion gene summary
Fusion gene informationFusion gene name: MKLN1_NRF1
Fusion gene ID: 22103
HgeneTgene
Gene symbol

MKLN1

NRF1

Gene ID

4289

4899

Gene namemuskelin 1nuclear respiratory factor 1
SynonymsTWA2ALPHA-PAL
Cytomap

7q32.3

7q32.2

Type of geneprotein-codingprotein-coding
Descriptionmuskelinmuskelin 1, intracellular mediator containing kelch motifsnuclear respiratory factor 1alpha palindromic-binding protein
Modification date2018052220180523
UniProtAcc

Q9UL63

Q16656

Ensembl transtripts involved in fusion geneENST00000421797, ENST00000429546, 
ENST00000352689, ENST00000498778, 
ENST00000393232, ENST00000353868, 
ENST00000539636, ENST00000311967, 
ENST00000223190, ENST00000393230, 
ENST00000393231, ENST00000477428, 
Fusion gene scores* DoF score9 X 9 X 6=4864 X 4 X 3=48
# samples 94
** MAII scorelog2(9/486*10)=-2.43295940727611
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MKLN1 [Title/Abstract] AND NRF1 [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
TCGARVSKCMTCGA-ER-A19T-06AMKLN1chr7

131122756

+NRF1chr7

129367081

+
* 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-shiftENST00000421797ENST00000393232MKLN1chr7

131122756

+NRF1chr7

129367081

+
Frame-shiftENST00000421797ENST00000353868MKLN1chr7

131122756

+NRF1chr7

129367081

+
Frame-shiftENST00000421797ENST00000539636MKLN1chr7

131122756

+NRF1chr7

129367081

+
Frame-shiftENST00000421797ENST00000311967MKLN1chr7

131122756

+NRF1chr7

129367081

+
Frame-shiftENST00000421797ENST00000223190MKLN1chr7

131122756

+NRF1chr7

129367081

+
Frame-shiftENST00000421797ENST00000393230MKLN1chr7

131122756

+NRF1chr7

129367081

+
Frame-shiftENST00000421797ENST00000393231MKLN1chr7

131122756

+NRF1chr7

129367081

+
5CDS-intronENST00000421797ENST00000477428MKLN1chr7

131122756

+NRF1chr7

129367081

+
intron-3CDSENST00000429546ENST00000393232MKLN1chr7

131122756

+NRF1chr7

129367081

+
intron-3CDSENST00000429546ENST00000353868MKLN1chr7

131122756

+NRF1chr7

129367081

+
intron-3CDSENST00000429546ENST00000539636MKLN1chr7

131122756

+NRF1chr7

129367081

+
intron-3CDSENST00000429546ENST00000311967MKLN1chr7

131122756

+NRF1chr7

129367081

+
intron-3CDSENST00000429546ENST00000223190MKLN1chr7

131122756

+NRF1chr7

129367081

+
intron-3CDSENST00000429546ENST00000393230MKLN1chr7

131122756

+NRF1chr7

129367081

+
intron-3CDSENST00000429546ENST00000393231MKLN1chr7

131122756

+NRF1chr7

129367081

+
intron-intronENST00000429546ENST00000477428MKLN1chr7

131122756

+NRF1chr7

129367081

+
Frame-shiftENST00000352689ENST00000393232MKLN1chr7

131122756

+NRF1chr7

129367081

+
Frame-shiftENST00000352689ENST00000353868MKLN1chr7

131122756

+NRF1chr7

129367081

+
Frame-shiftENST00000352689ENST00000539636MKLN1chr7

131122756

+NRF1chr7

129367081

+
Frame-shiftENST00000352689ENST00000311967MKLN1chr7

131122756

+NRF1chr7

129367081

+
Frame-shiftENST00000352689ENST00000223190MKLN1chr7

131122756

+NRF1chr7

129367081

+
Frame-shiftENST00000352689ENST00000393230MKLN1chr7

131122756

+NRF1chr7

129367081

+
Frame-shiftENST00000352689ENST00000393231MKLN1chr7

131122756

+NRF1chr7

129367081

+
5CDS-intronENST00000352689ENST00000477428MKLN1chr7

131122756

+NRF1chr7

129367081

+
intron-3CDSENST00000498778ENST00000393232MKLN1chr7

131122756

+NRF1chr7

129367081

+
intron-3CDSENST00000498778ENST00000353868MKLN1chr7

131122756

+NRF1chr7

129367081

+
intron-3CDSENST00000498778ENST00000539636MKLN1chr7

131122756

+NRF1chr7

129367081

+
intron-3CDSENST00000498778ENST00000311967MKLN1chr7

131122756

+NRF1chr7

129367081

+
intron-3CDSENST00000498778ENST00000223190MKLN1chr7

131122756

+NRF1chr7

129367081

+
intron-3CDSENST00000498778ENST00000393230MKLN1chr7

131122756

+NRF1chr7

129367081

+
intron-3CDSENST00000498778ENST00000393231MKLN1chr7

131122756

+NRF1chr7

129367081

+
intron-intronENST00000498778ENST00000477428MKLN1chr7

131122756

+NRF1chr7

129367081

+

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FusionProtFeatures for MKLN1_NRF1


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

Q9UL63

NRF1

Q16656

Acts as a mediator of cell spreading and cytoskeletalresponses to the extracellular matrix component THBS1.{ECO:0000250|UniProtKB:O89050}. Transcription factor that activates the expression ofthe EIF2S1 (EIF2-alpha) gene. Links the transcriptional modulationof key metabolic genes to cellular growth and development.Implicated in the control of nuclear genes required forrespiration, heme biosynthesis, and mitochondrial DNAtranscription and replication.

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_NRF1


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_NRF1


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, TRIM25NRF1DYNLL1, MAFF, PPARGC1A, PPRC1, PARP1, CEBPB, CSNK2A1, CSNK2B, FHL2, SP4, TRAF2, POGZ, PLXDC1, FOXJ2, FOXK2, FOXP3, WDR59, DYNLL2


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_NRF1


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_NRF1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneNRF1C0006079Bowen's Disease1CTD_human