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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:MKLN1-CDK14

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: MKLN1-CDK14
FusionPDB ID: 54080
FusionGDB2.0 ID: 54080
HgeneTgene
Gene symbol

MKLN1

CDK14

Gene ID

4289

5218

Gene namemuskelin 1cyclin dependent kinase 14
SynonymsTWA2PFTAIRE1|PFTK1
Cytomap

7q32.3

7q21.13

Type of geneprotein-codingprotein-coding
Descriptionmuskelinmuskelin 1, intracellular mediator containing kelch motifscyclin-dependent kinase 14PFTAIRE protein kinase 1cell division protein kinase 14serine/threonine-protein kinase PFTAIRE-1
Modification date2020031320200313
UniProtAcc

Q9UL63

O94921

Ensembl transtripts involved in fusion geneENST idsENST00000352689, ENST00000421797, 
ENST00000429546, ENST00000498778, 
ENST00000436577, ENST00000496279, 
ENST00000265741, ENST00000380050, 
ENST00000406263, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score15 X 15 X 7=157522 X 24 X 12=6336
# samples 1632
** MAII scorelog2(16/1575*10)=-3.29920801838728
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(32/6336*10)=-4.30742852519225
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: MKLN1 [Title/Abstract] AND CDK14 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)MKLN1(131082135)-CDK14(90376996), # samples:3
Anticipated loss of major functional domain due to fusion event.MKLN1-CDK14 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
MKLN1-CDK14 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
MKLN1-CDK14 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
MKLN1-CDK14 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
* 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
TgeneCDK14

GO:0000086

G2/M transition of mitotic cell cycle

20059949

TgeneCDK14

GO:0060828

regulation of canonical Wnt signaling pathway

20059949


check buttonFusion gene breakpoints across MKLN1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across CDK14 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4SKCMTCGA-EE-A20I-06AMKLN1chr7

131082135

-CDK14chr7

90376996

+
ChimerDB4SKCMTCGA-EE-A20I-06AMKLN1chr7

131082135

+CDK14chr7

90376996

+


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000421797MKLN1chr7131082135+ENST00000380050CDK14chr790376996+51416462051686493
ENST00000421797MKLN1chr7131082135+ENST00000265741CDK14chr790376996+51406462051686493
ENST00000421797MKLN1chr7131082135+ENST00000406263CDK14chr790376996+51366462051686493
ENST00000429546MKLN1chr7131082135+ENST00000380050CDK14chr790376996+494745251492495
ENST00000429546MKLN1chr7131082135+ENST00000265741CDK14chr790376996+494645251492495
ENST00000429546MKLN1chr7131082135+ENST00000406263CDK14chr790376996+494245251492495
ENST00000352689MKLN1chr7131082135+ENST00000380050CDK14chr790376996+504555011590529
ENST00000352689MKLN1chr7131082135+ENST00000265741CDK14chr790376996+504455011590529
ENST00000352689MKLN1chr7131082135+ENST00000406263CDK14chr790376996+504055011590529

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000421797ENST00000380050MKLN1chr7131082135+CDK14chr790376996+0.0002840290.999716
ENST00000421797ENST00000265741MKLN1chr7131082135+CDK14chr790376996+0.0002835990.99971634
ENST00000421797ENST00000406263MKLN1chr7131082135+CDK14chr790376996+0.0002830830.99971694
ENST00000429546ENST00000380050MKLN1chr7131082135+CDK14chr790376996+0.0003622760.9996377
ENST00000429546ENST00000265741MKLN1chr7131082135+CDK14chr790376996+0.0003624520.9996375
ENST00000429546ENST00000406263MKLN1chr7131082135+CDK14chr790376996+0.0003609920.99963903
ENST00000352689ENST00000380050MKLN1chr7131082135+CDK14chr790376996+0.0001724680.9998275
ENST00000352689ENST00000265741MKLN1chr7131082135+CDK14chr790376996+0.0001722710.99982774
ENST00000352689ENST00000406263MKLN1chr7131082135+CDK14chr790376996+0.0001720390.999828

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Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>54080_54080_1_MKLN1-CDK14_MKLN1_chr7_131082135_ENST00000352689_CDK14_chr7_90376996_ENST00000265741_length(amino acids)=529AA_BP=183
LPAVGGGRYGADKMAAGGAVAAAPECRLLPYALHKWSSFSSTYLPENILVDKPNDQSSRWSSESNYPPQYLILKLERPAIVQNITFGKYE
KTHVCNLKKFKVFGGMNEENMTELLSSGLKNDYNKETFTLKHKIDEQMFPCRFIKIVPLLSWGPSFNFSIWYVELSGIDDPDIVQPCLNW
YSKPTSPKFGKADSYEKLEKLGEGSYATVYKGKSKVNGKLVALKVIRLQEEEGTPFTAIREASLLKGLKHANIVLLHDIIHTKETLTLVF
EYVHTDLCQYMDKHPGGLHPDNVKLFLFQLLRGLSYIHQRYILHRDLKPQNLLISDTGELKLADFGLARAKSVPSHTYSNEVVTLWYRPP
DVLLGSTEYSTCLDMWGVGCIFVEMIQGVAAFPGMKDIQDQLERIFLVLGTPNEDTWPGVHSLPHFKPERFTLYSSKNLRQAWNKLSYVN

--------------------------------------------------------------

>54080_54080_2_MKLN1-CDK14_MKLN1_chr7_131082135_ENST00000352689_CDK14_chr7_90376996_ENST00000380050_length(amino acids)=529AA_BP=183
LPAVGGGRYGADKMAAGGAVAAAPECRLLPYALHKWSSFSSTYLPENILVDKPNDQSSRWSSESNYPPQYLILKLERPAIVQNITFGKYE
KTHVCNLKKFKVFGGMNEENMTELLSSGLKNDYNKETFTLKHKIDEQMFPCRFIKIVPLLSWGPSFNFSIWYVELSGIDDPDIVQPCLNW
YSKPTSPKFGKADSYEKLEKLGEGSYATVYKGKSKVNGKLVALKVIRLQEEEGTPFTAIREASLLKGLKHANIVLLHDIIHTKETLTLVF
EYVHTDLCQYMDKHPGGLHPDNVKLFLFQLLRGLSYIHQRYILHRDLKPQNLLISDTGELKLADFGLARAKSVPSHTYSNEVVTLWYRPP
DVLLGSTEYSTCLDMWGVGCIFVEMIQGVAAFPGMKDIQDQLERIFLVLGTPNEDTWPGVHSLPHFKPERFTLYSSKNLRQAWNKLSYVN

--------------------------------------------------------------

>54080_54080_3_MKLN1-CDK14_MKLN1_chr7_131082135_ENST00000352689_CDK14_chr7_90376996_ENST00000406263_length(amino acids)=529AA_BP=183
LPAVGGGRYGADKMAAGGAVAAAPECRLLPYALHKWSSFSSTYLPENILVDKPNDQSSRWSSESNYPPQYLILKLERPAIVQNITFGKYE
KTHVCNLKKFKVFGGMNEENMTELLSSGLKNDYNKETFTLKHKIDEQMFPCRFIKIVPLLSWGPSFNFSIWYVELSGIDDPDIVQPCLNW
YSKPTSPKFGKADSYEKLEKLGEGSYATVYKGKSKVNGKLVALKVIRLQEEEGTPFTAIREASLLKGLKHANIVLLHDIIHTKETLTLVF
EYVHTDLCQYMDKHPGGLHPDNVKLFLFQLLRGLSYIHQRYILHRDLKPQNLLISDTGELKLADFGLARAKSVPSHTYSNEVVTLWYRPP
DVLLGSTEYSTCLDMWGVGCIFVEMIQGVAAFPGMKDIQDQLERIFLVLGTPNEDTWPGVHSLPHFKPERFTLYSSKNLRQAWNKLSYVN

--------------------------------------------------------------

>54080_54080_4_MKLN1-CDK14_MKLN1_chr7_131082135_ENST00000421797_CDK14_chr7_90376996_ENST00000265741_length(amino acids)=493AA_BP=147
MLENMGIGIRNILVDKPNDQSSRWSSESNYPPQYLILKLERPAIVQNITFGKYEKTHVCNLKKFKVFGGMNEENMTELLSSGLKNDYNKE
TFTLKHKIDEQMFPCRFIKIVPLLSWGPSFNFSIWYVELSGIDDPDIVQPCLNWYSKPTSPKFGKADSYEKLEKLGEGSYATVYKGKSKV
NGKLVALKVIRLQEEEGTPFTAIREASLLKGLKHANIVLLHDIIHTKETLTLVFEYVHTDLCQYMDKHPGGLHPDNVKLFLFQLLRGLSY
IHQRYILHRDLKPQNLLISDTGELKLADFGLARAKSVPSHTYSNEVVTLWYRPPDVLLGSTEYSTCLDMWGVGCIFVEMIQGVAAFPGMK
DIQDQLERIFLVLGTPNEDTWPGVHSLPHFKPERFTLYSSKNLRQAWNKLSYVNHAEDLASKLLQCSPKNRLSAQAALSHEYFSDLPPRL

--------------------------------------------------------------

>54080_54080_5_MKLN1-CDK14_MKLN1_chr7_131082135_ENST00000421797_CDK14_chr7_90376996_ENST00000380050_length(amino acids)=493AA_BP=147
MLENMGIGIRNILVDKPNDQSSRWSSESNYPPQYLILKLERPAIVQNITFGKYEKTHVCNLKKFKVFGGMNEENMTELLSSGLKNDYNKE
TFTLKHKIDEQMFPCRFIKIVPLLSWGPSFNFSIWYVELSGIDDPDIVQPCLNWYSKPTSPKFGKADSYEKLEKLGEGSYATVYKGKSKV
NGKLVALKVIRLQEEEGTPFTAIREASLLKGLKHANIVLLHDIIHTKETLTLVFEYVHTDLCQYMDKHPGGLHPDNVKLFLFQLLRGLSY
IHQRYILHRDLKPQNLLISDTGELKLADFGLARAKSVPSHTYSNEVVTLWYRPPDVLLGSTEYSTCLDMWGVGCIFVEMIQGVAAFPGMK
DIQDQLERIFLVLGTPNEDTWPGVHSLPHFKPERFTLYSSKNLRQAWNKLSYVNHAEDLASKLLQCSPKNRLSAQAALSHEYFSDLPPRL

--------------------------------------------------------------

>54080_54080_6_MKLN1-CDK14_MKLN1_chr7_131082135_ENST00000421797_CDK14_chr7_90376996_ENST00000406263_length(amino acids)=493AA_BP=147
MLENMGIGIRNILVDKPNDQSSRWSSESNYPPQYLILKLERPAIVQNITFGKYEKTHVCNLKKFKVFGGMNEENMTELLSSGLKNDYNKE
TFTLKHKIDEQMFPCRFIKIVPLLSWGPSFNFSIWYVELSGIDDPDIVQPCLNWYSKPTSPKFGKADSYEKLEKLGEGSYATVYKGKSKV
NGKLVALKVIRLQEEEGTPFTAIREASLLKGLKHANIVLLHDIIHTKETLTLVFEYVHTDLCQYMDKHPGGLHPDNVKLFLFQLLRGLSY
IHQRYILHRDLKPQNLLISDTGELKLADFGLARAKSVPSHTYSNEVVTLWYRPPDVLLGSTEYSTCLDMWGVGCIFVEMIQGVAAFPGMK
DIQDQLERIFLVLGTPNEDTWPGVHSLPHFKPERFTLYSSKNLRQAWNKLSYVNHAEDLASKLLQCSPKNRLSAQAALSHEYFSDLPPRL

--------------------------------------------------------------

>54080_54080_7_MKLN1-CDK14_MKLN1_chr7_131082135_ENST00000429546_CDK14_chr7_90376996_ENST00000265741_length(amino acids)=495AA_BP=149
MQGEDGEPFAPWNILVDKPNDQSSRWSSESNYPPQYLILKLERPAIVQNITFGKYEKTHVCNLKKFKVFGGMNEENMTELLSSGLKNDYN
KETFTLKHKIDEQMFPCRFIKIVPLLSWGPSFNFSIWYVELSGIDDPDIVQPCLNWYSKPTSPKFGKADSYEKLEKLGEGSYATVYKGKS
KVNGKLVALKVIRLQEEEGTPFTAIREASLLKGLKHANIVLLHDIIHTKETLTLVFEYVHTDLCQYMDKHPGGLHPDNVKLFLFQLLRGL
SYIHQRYILHRDLKPQNLLISDTGELKLADFGLARAKSVPSHTYSNEVVTLWYRPPDVLLGSTEYSTCLDMWGVGCIFVEMIQGVAAFPG
MKDIQDQLERIFLVLGTPNEDTWPGVHSLPHFKPERFTLYSSKNLRQAWNKLSYVNHAEDLASKLLQCSPKNRLSAQAALSHEYFSDLPP

--------------------------------------------------------------

>54080_54080_8_MKLN1-CDK14_MKLN1_chr7_131082135_ENST00000429546_CDK14_chr7_90376996_ENST00000380050_length(amino acids)=495AA_BP=149
MQGEDGEPFAPWNILVDKPNDQSSRWSSESNYPPQYLILKLERPAIVQNITFGKYEKTHVCNLKKFKVFGGMNEENMTELLSSGLKNDYN
KETFTLKHKIDEQMFPCRFIKIVPLLSWGPSFNFSIWYVELSGIDDPDIVQPCLNWYSKPTSPKFGKADSYEKLEKLGEGSYATVYKGKS
KVNGKLVALKVIRLQEEEGTPFTAIREASLLKGLKHANIVLLHDIIHTKETLTLVFEYVHTDLCQYMDKHPGGLHPDNVKLFLFQLLRGL
SYIHQRYILHRDLKPQNLLISDTGELKLADFGLARAKSVPSHTYSNEVVTLWYRPPDVLLGSTEYSTCLDMWGVGCIFVEMIQGVAAFPG
MKDIQDQLERIFLVLGTPNEDTWPGVHSLPHFKPERFTLYSSKNLRQAWNKLSYVNHAEDLASKLLQCSPKNRLSAQAALSHEYFSDLPP

--------------------------------------------------------------

>54080_54080_9_MKLN1-CDK14_MKLN1_chr7_131082135_ENST00000429546_CDK14_chr7_90376996_ENST00000406263_length(amino acids)=495AA_BP=149
MQGEDGEPFAPWNILVDKPNDQSSRWSSESNYPPQYLILKLERPAIVQNITFGKYEKTHVCNLKKFKVFGGMNEENMTELLSSGLKNDYN
KETFTLKHKIDEQMFPCRFIKIVPLLSWGPSFNFSIWYVELSGIDDPDIVQPCLNWYSKPTSPKFGKADSYEKLEKLGEGSYATVYKGKS
KVNGKLVALKVIRLQEEEGTPFTAIREASLLKGLKHANIVLLHDIIHTKETLTLVFEYVHTDLCQYMDKHPGGLHPDNVKLFLFQLLRGL
SYIHQRYILHRDLKPQNLLISDTGELKLADFGLARAKSVPSHTYSNEVVTLWYRPPDVLLGSTEYSTCLDMWGVGCIFVEMIQGVAAFPG
MKDIQDQLERIFLVLGTPNEDTWPGVHSLPHFKPERFTLYSSKNLRQAWNKLSYVNHAEDLASKLLQCSPKNRLSAQAALSHEYFSDLPP

--------------------------------------------------------------

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Fusion Protein Functional Features


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr7:131082135/chr7:90376996)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

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

Q9UL63

CDK14

O94921

FUNCTION: Component of the CTLH E3 ubiquitin-protein ligase complex that selectively accepts ubiquitin from UBE2H and mediates ubiquitination and subsequent proteasomal degradation of the transcription factor HBP1 (PubMed:29911972). Required for internalization of the GABA receptor GABRA1 from the cell membrane via endosomes and subsequent GABRA1 degradation (By similarity). Acts as a mediator of cell spreading and cytoskeletal responses to the extracellular matrix component THBS1 (PubMed:18710924). {ECO:0000250|UniProtKB:O89050, ECO:0000269|PubMed:18710924, ECO:0000269|PubMed:29911972}.FUNCTION: Serine/threonine-protein kinase involved in the control of the eukaryotic cell cycle, whose activity is controlled by an associated cyclin. Acts as a cell-cycle regulator of Wnt signaling pathway during G2/M phase by mediating the phosphorylation of LRP6 at 'Ser-1490', leading to the activation of the Wnt signaling pathway. Acts as a regulator of cell cycle progression and cell proliferation via its interaction with CCDN3. Phosphorylates RB1 in vitro, however the relevance of such result remains to be confirmed in vivo. May also play a role in meiosis, neuron differentiation and may indirectly act as a negative regulator of insulin-responsive glucose transport. {ECO:0000269|PubMed:16461467, ECO:0000269|PubMed:17517622, ECO:0000269|PubMed:19524571, ECO:0000269|PubMed:20059949}.

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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneCDK14chr7:131082135chr7:90376996ENST00000265741114135_419105.01522.6666666666667DomainProtein kinase
TgeneCDK14chr7:131082135chr7:90376996ENST00000380050215135_419123.01538.0DomainProtein kinase
TgeneCDK14chr7:131082135chr7:90376996ENST00000406263114135_41977.01422.0DomainProtein kinase
TgeneCDK14chr7:131082135chr7:90376996ENST00000265741114141_149105.01522.6666666666667Nucleotide bindingATP
TgeneCDK14chr7:131082135chr7:90376996ENST00000380050215141_149123.01538.0Nucleotide bindingATP
TgeneCDK14chr7:131082135chr7:90376996ENST00000406263114141_14977.01422.0Nucleotide bindingATP

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneMKLN1chr7:131082135chr7:90376996ENST00000352689+518172_204170.0736.0DomainLisH
HgeneMKLN1chr7:131082135chr7:90376996ENST00000352689+518206_258170.0736.0DomainCTLH
HgeneMKLN1chr7:131082135chr7:90376996ENST00000352689+518284_330170.0736.0RepeatNote=Kelch 1
HgeneMKLN1chr7:131082135chr7:90376996ENST00000352689+518339_391170.0736.0RepeatNote=Kelch 2
HgeneMKLN1chr7:131082135chr7:90376996ENST00000352689+518408_458170.0736.0RepeatNote=Kelch 3
HgeneMKLN1chr7:131082135chr7:90376996ENST00000352689+518469_515170.0736.0RepeatNote=Kelch 4
HgeneMKLN1chr7:131082135chr7:90376996ENST00000352689+518526_578170.0736.0RepeatNote=Kelch 5
HgeneMKLN1chr7:131082135chr7:90376996ENST00000352689+518597_651170.0736.0RepeatNote=Kelch 6


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Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
MKLN1
CDK14


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs to MKLN1-CDK14


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to MKLN1-CDK14


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

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