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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:LEMD3-KCNC2

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: LEMD3-KCNC2
FusionPDB ID: 44432
FusionGDB2.0 ID: 44432
HgeneTgene
Gene symbol

LEMD3

KCNC2

Gene ID

23592

3747

Gene nameLEM domain containing 3potassium voltage-gated channel subfamily C member 2
SynonymsMAN1KV3.2
Cytomap

12q14.3

12q21.1

Type of geneprotein-codingprotein-coding
Descriptioninner nuclear membrane protein Man1LEM domain-containing protein 3LEMD3/MKX fusionintegral inner nuclear membrane proteinpotassium voltage-gated channel subfamily C member 2potassium channel, voltage gated Shaw related subfamily C, member 2potassium voltage-gated channel, Shaw-related subfamily, member 2shaw-like potassium channelvoltage-gated potassium channel Kv3.2
Modification date2020031320200313
UniProtAcc

Q9Y2U8

.
Ensembl transtripts involved in fusion geneENST idsENST00000308330, ENST00000541171, 
ENST00000548243, ENST00000298972, 
ENST00000341669, ENST00000350228, 
ENST00000393288, ENST00000540018, 
ENST00000548513, ENST00000549446, 
ENST00000550433, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score13 X 8 X 6=62415 X 5 X 6=450
# samples 1416
** MAII scorelog2(14/624*10)=-2.15611920191728
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(16/450*10)=-1.49185309632967
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: LEMD3 [Title/Abstract] AND KCNC2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)LEMD3(65612399)-KCNC2(75445097), # samples:2
Anticipated loss of major functional domain due to fusion event.LEMD3-KCNC2 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.
LEMD3-KCNC2 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.
LEMD3-KCNC2 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.
LEMD3-KCNC2 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
HgeneLEMD3

GO:0030512

negative regulation of transforming growth factor beta receptor signaling pathway

15647271

HgeneLEMD3

GO:0030514

negative regulation of BMP signaling pathway

15647271

HgeneLEMD3

GO:0032926

negative regulation of activin receptor signaling pathway

15647271


check buttonFusion gene breakpoints across LEMD3 (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 KCNC2 (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
ChimerDB4SARCTCGA-DX-AB2F-01ALEMD3chr12

65612399

-KCNC2chr12

75445097

-
ChimerDB4SARCTCGA-DX-AB2F-01ALEMD3chr12

65612399

+KCNC2chr12

75445097

-


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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)
ENST00000308330LEMD3chr1265612399+ENST00000550433KCNC2chr1275445097-39441721262923965
ENST00000308330LEMD3chr1265612399+ENST00000548513KCNC2chr1275445097-40391721262875949
ENST00000308330LEMD3chr1265612399+ENST00000549446KCNC2chr1275445097-59781721262950974
ENST00000308330LEMD3chr1265612399+ENST00000298972KCNC2chr1275445097-40001721262875949
ENST00000308330LEMD3chr1265612399+ENST00000341669KCNC2chr1275445097-39051721262923965
ENST00000308330LEMD3chr1265612399+ENST00000350228KCNC2chr1275445097-38341721262710894
ENST00000308330LEMD3chr1265612399+ENST00000540018KCNC2chr1275445097-29301721262785919
ENST00000308330LEMD3chr1265612399+ENST00000393288KCNC2chr1275445097-32711721262890954

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
ENST00000308330ENST00000550433LEMD3chr1265612399+KCNC2chr1275445097-0.0003357840.9996642
ENST00000308330ENST00000548513LEMD3chr1265612399+KCNC2chr1275445097-0.0003314910.9996685
ENST00000308330ENST00000549446LEMD3chr1265612399+KCNC2chr1275445097-0.0001885910.9998115
ENST00000308330ENST00000298972LEMD3chr1265612399+KCNC2chr1275445097-0.0003449130.9996551
ENST00000308330ENST00000341669LEMD3chr1265612399+KCNC2chr1275445097-0.0003472920.99965274
ENST00000308330ENST00000350228LEMD3chr1265612399+KCNC2chr1275445097-0.0005135960.9994863
ENST00000308330ENST00000540018LEMD3chr1265612399+KCNC2chr1275445097-0.0010437650.9989562
ENST00000308330ENST00000393288LEMD3chr1265612399+KCNC2chr1275445097-0.0004699370.9995301

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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

>44432_44432_1_LEMD3-KCNC2_LEMD3_chr12_65612399_ENST00000308330_KCNC2_chr12_75445097_ENST00000298972_length(amino acids)=949AA_BP=563
MAAAAASAPQQLSDEELFSQLRRYGLSPGPVTESTRPVYLKKLKKLREEEQQQHRSGGRGNKTRNSNNNNTAAATVAAAGPAAAAAAGMG
VRPVSGDLSYLRTPGGLCRISASGPESLLGGPGGASAAPAAGSKVLLGFSSDESDVEASPRDQAGGGGRKDRASLQYRGLKAPPAPLAAS
EVTNSNSAERRKPHSWWGARRPAGPELQTPPGKDGAVEDEEGEGEDGEERDPETEEPLWASRTVNGSRLVPYSCRENYSDSEEEDDDDVA
SSRQVLKDDSLSRHRPRRTHSKPLPPLTAKSAGGRLETSVQGGGGLAMNDRAAAAGSLDRSRNLEEAAAAEQGGGCDQVDSSPVPRYRVN
AKKLTPLLPPPLTDMDSTLDSSTGSLLKTNNHIGGGAFSVDSPRIYSNSLPPSAAVAASSSLRINHANHTGSNHTYLKNTYNKPKLSEPE
EELLQQFKREEVSPTGSFSAHYLSMFLLTAACLFFLILGLTYLGMRGTGVSEDGELSIENPFGETFGKIQESEKTLMMNTLYKLHDRLAQ
LAGDHECGSSSQRTLSVQEAAAYLKFIAFASLFFILVSITTFCLETHEAFNIVKNKTEPVINGTSVVLQYEIETDPALTYVEGVCVVWFT
FEFLVRIVFSPNKLEFIKNLLNIIDFVAILPFYLEVGLSGLSSKAAKDVLGFLRVVRFVRILRIFKLTRHFVGLRVLGHTLRASTNEFLL
LIIFLALGVLIFATMIYYAERVGAQPNDPSASEHTQFKNIPIGFWWAVVTMTTLGYGDMYPQTWSGMLVGALCALAGVLTIAMPVPVIVN
NFGMYYSLAMAKQKLPRKRKKHIPPAPQASSPTFCKTELNMACNSTQSDTCLGKDNRLLEHNRSVLSGDDSTGSEPPLSPPERLPIRRSS

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

>44432_44432_2_LEMD3-KCNC2_LEMD3_chr12_65612399_ENST00000308330_KCNC2_chr12_75445097_ENST00000341669_length(amino acids)=965AA_BP=563
MAAAAASAPQQLSDEELFSQLRRYGLSPGPVTESTRPVYLKKLKKLREEEQQQHRSGGRGNKTRNSNNNNTAAATVAAAGPAAAAAAGMG
VRPVSGDLSYLRTPGGLCRISASGPESLLGGPGGASAAPAAGSKVLLGFSSDESDVEASPRDQAGGGGRKDRASLQYRGLKAPPAPLAAS
EVTNSNSAERRKPHSWWGARRPAGPELQTPPGKDGAVEDEEGEGEDGEERDPETEEPLWASRTVNGSRLVPYSCRENYSDSEEEDDDDVA
SSRQVLKDDSLSRHRPRRTHSKPLPPLTAKSAGGRLETSVQGGGGLAMNDRAAAAGSLDRSRNLEEAAAAEQGGGCDQVDSSPVPRYRVN
AKKLTPLLPPPLTDMDSTLDSSTGSLLKTNNHIGGGAFSVDSPRIYSNSLPPSAAVAASSSLRINHANHTGSNHTYLKNTYNKPKLSEPE
EELLQQFKREEVSPTGSFSAHYLSMFLLTAACLFFLILGLTYLGMRGTGVSEDGELSIENPFGETFGKIQESEKTLMMNTLYKLHDRLAQ
LAGDHECGSSSQRTLSVQEAAAYLKFIAFASLFFILVSITTFCLETHEAFNIVKNKTEPVINGTSVVLQYEIETDPALTYVEGVCVVWFT
FEFLVRIVFSPNKLEFIKNLLNIIDFVAILPFYLEVGLSGLSSKAAKDVLGFLRVVRFVRILRIFKLTRHFVGLRVLGHTLRASTNEFLL
LIIFLALGVLIFATMIYYAERVGAQPNDPSASEHTQFKNIPIGFWWAVVTMTTLGYGDMYPQTWSGMLVGALCALAGVLTIAMPVPVIVN
NFGMYYSLAMAKQKLPRKRKKHIPPAPQASSPTFCKTELNMACNSTQSDTCLGKDNRLLEHNRSVLSGDDSTGSEPPLSPPERLPIRRSS

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

>44432_44432_3_LEMD3-KCNC2_LEMD3_chr12_65612399_ENST00000308330_KCNC2_chr12_75445097_ENST00000350228_length(amino acids)=894AA_BP=563
MAAAAASAPQQLSDEELFSQLRRYGLSPGPVTESTRPVYLKKLKKLREEEQQQHRSGGRGNKTRNSNNNNTAAATVAAAGPAAAAAAGMG
VRPVSGDLSYLRTPGGLCRISASGPESLLGGPGGASAAPAAGSKVLLGFSSDESDVEASPRDQAGGGGRKDRASLQYRGLKAPPAPLAAS
EVTNSNSAERRKPHSWWGARRPAGPELQTPPGKDGAVEDEEGEGEDGEERDPETEEPLWASRTVNGSRLVPYSCRENYSDSEEEDDDDVA
SSRQVLKDDSLSRHRPRRTHSKPLPPLTAKSAGGRLETSVQGGGGLAMNDRAAAAGSLDRSRNLEEAAAAEQGGGCDQVDSSPVPRYRVN
AKKLTPLLPPPLTDMDSTLDSSTGSLLKTNNHIGGGAFSVDSPRIYSNSLPPSAAVAASSSLRINHANHTGSNHTYLKNTYNKPKLSEPE
EELLQQFKREEVSPTGSFSAHYLSMFLLTAACLFFLILGLTYLGMRGTGVSEDGELSIENPFGETFGKIQESEKTLMMNTLYKLHDRLAQ
LAGDHECGSSSQRTLSVQEAAAYLKFIAFASLFFILVSITTFCLETHEAFNIVKNKTEPVINGTSVVLQYEIETDPALTYVEGVCVVWFT
FEFLVRIVFSPNKLEFIKNLLNIIDFVAILPFYLEVGLSGLSSKAAKDVLGFLRVVRFVRILRIFKLTRHFVGLRVLGHTLRASTNEFLL
LIIFLALGVLIFATMIYYAERVGAQPNDPSASEHTQFKNIPIGFWWAVVTMTTLGYGDMYPQTWSGMLVGALCALAGVLTIAMPVPVIVN

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

>44432_44432_4_LEMD3-KCNC2_LEMD3_chr12_65612399_ENST00000308330_KCNC2_chr12_75445097_ENST00000393288_length(amino acids)=954AA_BP=563
MAAAAASAPQQLSDEELFSQLRRYGLSPGPVTESTRPVYLKKLKKLREEEQQQHRSGGRGNKTRNSNNNNTAAATVAAAGPAAAAAAGMG
VRPVSGDLSYLRTPGGLCRISASGPESLLGGPGGASAAPAAGSKVLLGFSSDESDVEASPRDQAGGGGRKDRASLQYRGLKAPPAPLAAS
EVTNSNSAERRKPHSWWGARRPAGPELQTPPGKDGAVEDEEGEGEDGEERDPETEEPLWASRTVNGSRLVPYSCRENYSDSEEEDDDDVA
SSRQVLKDDSLSRHRPRRTHSKPLPPLTAKSAGGRLETSVQGGGGLAMNDRAAAAGSLDRSRNLEEAAAAEQGGGCDQVDSSPVPRYRVN
AKKLTPLLPPPLTDMDSTLDSSTGSLLKTNNHIGGGAFSVDSPRIYSNSLPPSAAVAASSSLRINHANHTGSNHTYLKNTYNKPKLSEPE
EELLQQFKREEVSPTGSFSAHYLSMFLLTAACLFFLILGLTYLGMRGTGVSEDGELSIENPFGETFGKIQESEKTLMMNTLYKLHDRLAQ
LAGDHECGSSSQRTLSVQEAAAYLKFIAFASLFFILVSITTFCLETHEAFNIVKNKTEPVINGTSVVLQYEIETDPALTYVEGVCVVWFT
FEFLVRIVFSPNKLEFIKNLLNIIDFVAILPFYLEVGLSGLSSKAAKDVLGFLRVVRFVRILRIFKLTRHFVGLRVLGHTLRASTNEFLL
LIIFLALGVLIFATMIYYAERVGAQPNDPSASEHTQFKNIPIGFWWAVVTMTTLGYGDMYPQTWSGMLVGALCALAGVLTIAMPVPVIVN
NFGMYYSLAMAKQKLPRKRKKHIPPAPQASSPTFCKTELNMACNSTQSDTCLGKDNRLLEHNRSVLSGDDSTGSEPPLSPPERLPIRRSS

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

>44432_44432_5_LEMD3-KCNC2_LEMD3_chr12_65612399_ENST00000308330_KCNC2_chr12_75445097_ENST00000540018_length(amino acids)=919AA_BP=563
MAAAAASAPQQLSDEELFSQLRRYGLSPGPVTESTRPVYLKKLKKLREEEQQQHRSGGRGNKTRNSNNNNTAAATVAAAGPAAAAAAGMG
VRPVSGDLSYLRTPGGLCRISASGPESLLGGPGGASAAPAAGSKVLLGFSSDESDVEASPRDQAGGGGRKDRASLQYRGLKAPPAPLAAS
EVTNSNSAERRKPHSWWGARRPAGPELQTPPGKDGAVEDEEGEGEDGEERDPETEEPLWASRTVNGSRLVPYSCRENYSDSEEEDDDDVA
SSRQVLKDDSLSRHRPRRTHSKPLPPLTAKSAGGRLETSVQGGGGLAMNDRAAAAGSLDRSRNLEEAAAAEQGGGCDQVDSSPVPRYRVN
AKKLTPLLPPPLTDMDSTLDSSTGSLLKTNNHIGGGAFSVDSPRIYSNSLPPSAAVAASSSLRINHANHTGSNHTYLKNTYNKPKLSEPE
EELLQQFKREEVSPTGSFSAHYLSMFLLTAACLFFLILGLTYLGMRGTGVSEDGELSIENPFGETFGKIQESEKTLMMNTLYKLHDRLAQ
LAGDHECGSSSQRTLSVQEAAAYLKFIAFASLFFILVSITTFCLETHEAFNIVKNKTEPVINGTSVVLQYEIETDPALTYVEGVCVVWFT
FEFLVRIVFSPNKLEFIKNLLNIIDFVAILPFYLEVGLSGLSSKAAKDVLGFLRVVRFVRILRIFKLTRHFVGLRVLGHTLRASTNEFLL
LIIFLALGVLIFATMIYYAERVGAQPNDPSASEHTQFKNIPIGFWWAVVTMTTLGYGDMYPQTWSGMLVGALCALAGVLTIAMPVPVIVN
NFGMYYSLAMAKQKLPRKRKKHIPPAPQASSPTFCKTELNMACNSTQSDTCLGKDNRLLEHNRSGYEKSRSLNNIAGLAGNALRLSPVTS

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

>44432_44432_6_LEMD3-KCNC2_LEMD3_chr12_65612399_ENST00000308330_KCNC2_chr12_75445097_ENST00000548513_length(amino acids)=949AA_BP=563
MAAAAASAPQQLSDEELFSQLRRYGLSPGPVTESTRPVYLKKLKKLREEEQQQHRSGGRGNKTRNSNNNNTAAATVAAAGPAAAAAAGMG
VRPVSGDLSYLRTPGGLCRISASGPESLLGGPGGASAAPAAGSKVLLGFSSDESDVEASPRDQAGGGGRKDRASLQYRGLKAPPAPLAAS
EVTNSNSAERRKPHSWWGARRPAGPELQTPPGKDGAVEDEEGEGEDGEERDPETEEPLWASRTVNGSRLVPYSCRENYSDSEEEDDDDVA
SSRQVLKDDSLSRHRPRRTHSKPLPPLTAKSAGGRLETSVQGGGGLAMNDRAAAAGSLDRSRNLEEAAAAEQGGGCDQVDSSPVPRYRVN
AKKLTPLLPPPLTDMDSTLDSSTGSLLKTNNHIGGGAFSVDSPRIYSNSLPPSAAVAASSSLRINHANHTGSNHTYLKNTYNKPKLSEPE
EELLQQFKREEVSPTGSFSAHYLSMFLLTAACLFFLILGLTYLGMRGTGVSEDGELSIENPFGETFGKIQESEKTLMMNTLYKLHDRLAQ
LAGDHECGSSSQRTLSVQEAAAYLKFIAFASLFFILVSITTFCLETHEAFNIVKNKTEPVINGTSVVLQYEIETDPALTYVEGVCVVWFT
FEFLVRIVFSPNKLEFIKNLLNIIDFVAILPFYLEVGLSGLSSKAAKDVLGFLRVVRFVRILRIFKLTRHFVGLRVLGHTLRASTNEFLL
LIIFLALGVLIFATMIYYAERVGAQPNDPSASEHTQFKNIPIGFWWAVVTMTTLGYGDMYPQTWSGMLVGALCALAGVLTIAMPVPVIVN
NFGMYYSLAMAKQKLPRKRKKHIPPAPQASSPTFCKTELNMACNSTQSDTCLGKDNRLLEHNRSVLSGDDSTGSEPPLSPPERLPIRRSS

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

>44432_44432_7_LEMD3-KCNC2_LEMD3_chr12_65612399_ENST00000308330_KCNC2_chr12_75445097_ENST00000549446_length(amino acids)=974AA_BP=563
MAAAAASAPQQLSDEELFSQLRRYGLSPGPVTESTRPVYLKKLKKLREEEQQQHRSGGRGNKTRNSNNNNTAAATVAAAGPAAAAAAGMG
VRPVSGDLSYLRTPGGLCRISASGPESLLGGPGGASAAPAAGSKVLLGFSSDESDVEASPRDQAGGGGRKDRASLQYRGLKAPPAPLAAS
EVTNSNSAERRKPHSWWGARRPAGPELQTPPGKDGAVEDEEGEGEDGEERDPETEEPLWASRTVNGSRLVPYSCRENYSDSEEEDDDDVA
SSRQVLKDDSLSRHRPRRTHSKPLPPLTAKSAGGRLETSVQGGGGLAMNDRAAAAGSLDRSRNLEEAAAAEQGGGCDQVDSSPVPRYRVN
AKKLTPLLPPPLTDMDSTLDSSTGSLLKTNNHIGGGAFSVDSPRIYSNSLPPSAAVAASSSLRINHANHTGSNHTYLKNTYNKPKLSEPE
EELLQQFKREEVSPTGSFSAHYLSMFLLTAACLFFLILGLTYLGMRGTGVSEDGELSIENPFGETFGKIQESEKTLMMNTLYKLHDRLAQ
LAGDHECGSSSQRTLSVQEAAAYLKFIAFASLFFILVSITTFCLETHEAFNIVKNKTEPVINGTSVVLQYEIETDPALTYVEGVCVVWFT
FEFLVRIVFSPNKLEFIKNLLNIIDFVAILPFYLEVGLSGLSSKAAKDVLGFLRVVRFVRILRIFKLTRHFVGLRVLGHTLRASTNEFLL
LIIFLALGVLIFATMIYYAERVGAQPNDPSASEHTQFKNIPIGFWWAVVTMTTLGYGDMYPQTWSGMLVGALCALAGVLTIAMPVPVIVN
NFGMYYSLAMAKQKLPRKRKKHIPPAPQASSPTFCKTELNMACNSTQSDTCLGKDNRLLEHNRSVLSGDDSTGSEPPLSPPERLPIRRSS

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

>44432_44432_8_LEMD3-KCNC2_LEMD3_chr12_65612399_ENST00000308330_KCNC2_chr12_75445097_ENST00000550433_length(amino acids)=965AA_BP=563
MAAAAASAPQQLSDEELFSQLRRYGLSPGPVTESTRPVYLKKLKKLREEEQQQHRSGGRGNKTRNSNNNNTAAATVAAAGPAAAAAAGMG
VRPVSGDLSYLRTPGGLCRISASGPESLLGGPGGASAAPAAGSKVLLGFSSDESDVEASPRDQAGGGGRKDRASLQYRGLKAPPAPLAAS
EVTNSNSAERRKPHSWWGARRPAGPELQTPPGKDGAVEDEEGEGEDGEERDPETEEPLWASRTVNGSRLVPYSCRENYSDSEEEDDDDVA
SSRQVLKDDSLSRHRPRRTHSKPLPPLTAKSAGGRLETSVQGGGGLAMNDRAAAAGSLDRSRNLEEAAAAEQGGGCDQVDSSPVPRYRVN
AKKLTPLLPPPLTDMDSTLDSSTGSLLKTNNHIGGGAFSVDSPRIYSNSLPPSAAVAASSSLRINHANHTGSNHTYLKNTYNKPKLSEPE
EELLQQFKREEVSPTGSFSAHYLSMFLLTAACLFFLILGLTYLGMRGTGVSEDGELSIENPFGETFGKIQESEKTLMMNTLYKLHDRLAQ
LAGDHECGSSSQRTLSVQEAAAYLKFIAFASLFFILVSITTFCLETHEAFNIVKNKTEPVINGTSVVLQYEIETDPALTYVEGVCVVWFT
FEFLVRIVFSPNKLEFIKNLLNIIDFVAILPFYLEVGLSGLSSKAAKDVLGFLRVVRFVRILRIFKLTRHFVGLRVLGHTLRASTNEFLL
LIIFLALGVLIFATMIYYAERVGAQPNDPSASEHTQFKNIPIGFWWAVVTMTTLGYGDMYPQTWSGMLVGALCALAGVLTIAMPVPVIVN
NFGMYYSLAMAKQKLPRKRKKHIPPAPQASSPTFCKTELNMACNSTQSDTCLGKDNRLLEHNRSVLSGDDSTGSEPPLSPPERLPIRRSS

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

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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/chr12:65612399/chr12:75445097)
- 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
LEMD3

Q9Y2U8

.
FUNCTION: Can function as a specific repressor of TGF-beta, activin, and BMP signaling through its interaction with the R-SMAD proteins. Antagonizes TGF-beta-induced cell proliferation arrest. {ECO:0000269|PubMed:15601644, ECO:0000269|PubMed:15647271}.FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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
HgeneLEMD3chr12:65612399chr12:75445097ENST00000308330+413155_158565.0912.0Compositional biasNote=Poly-Gly
HgeneLEMD3chr12:65612399chr12:75445097ENST00000308330+413265_268565.0912.0Compositional biasNote=Poly-Asp
HgeneLEMD3chr12:65612399chr12:75445097ENST00000308330+413312_315565.0912.0Compositional biasNote=Poly-Gly
HgeneLEMD3chr12:65612399chr12:75445097ENST00000308330+413322_325565.0912.0Compositional biasNote=Poly-Ala
HgeneLEMD3chr12:65612399chr12:75445097ENST00000308330+413337_340565.0912.0Compositional biasNote=Poly-Ala
HgeneLEMD3chr12:65612399chr12:75445097ENST00000308330+41365_70565.0912.0Compositional biasNote=Poly-Asn
HgeneLEMD3chr12:65612399chr12:75445097ENST00000308330+41372_87565.0912.0Compositional biasNote=Ala-rich
HgeneLEMD3chr12:65612399chr12:75445097ENST00000308330+41382_87565.0912.0Compositional biasNote=Poly-Ala
HgeneLEMD3chr12:65612399chr12:75445097ENST00000308330+4136_50565.0912.0DomainLEM
HgeneLEMD3chr12:65612399chr12:75445097ENST00000308330+413475_495565.0912.0TransmembraneHelical
TgeneKCNC2chr12:65612399chr12:75445097ENST0000029897216437_442229.0599.0RegionSelectivity filter
TgeneKCNC2chr12:65612399chr12:75445097ENST0000034166915437_442229.0630.0RegionSelectivity filter
TgeneKCNC2chr12:65612399chr12:75445097ENST0000035022815437_442229.0543.6666666666666RegionSelectivity filter
TgeneKCNC2chr12:65612399chr12:75445097ENST0000039328815437_442229.0619.0RegionSelectivity filter
TgeneKCNC2chr12:65612399chr12:75445097ENST0000054001814437_442229.0584.0RegionSelectivity filter
TgeneKCNC2chr12:65612399chr12:75445097ENST0000054851305437_442229.0477.0RegionSelectivity filter
TgeneKCNC2chr12:65612399chr12:75445097ENST0000054944615437_442229.0639.0RegionSelectivity filter
TgeneKCNC2chr12:65612399chr12:75445097ENST0000055043304437_442229.0630.0RegionSelectivity filter
TgeneKCNC2chr12:65612399chr12:75445097ENST0000029897216304_313229.0599.0Topological domainCytoplasmic
TgeneKCNC2chr12:65612399chr12:75445097ENST0000029897216369_381229.0599.0Topological domainCytoplasmic
TgeneKCNC2chr12:65612399chr12:75445097ENST0000029897216474_638229.0599.0Topological domainCytoplasmic
TgeneKCNC2chr12:65612399chr12:75445097ENST0000034166915304_313229.0630.0Topological domainCytoplasmic
TgeneKCNC2chr12:65612399chr12:75445097ENST0000034166915369_381229.0630.0Topological domainCytoplasmic
TgeneKCNC2chr12:65612399chr12:75445097ENST0000034166915474_638229.0630.0Topological domainCytoplasmic
TgeneKCNC2chr12:65612399chr12:75445097ENST0000035022815304_313229.0543.6666666666666Topological domainCytoplasmic
TgeneKCNC2chr12:65612399chr12:75445097ENST0000035022815369_381229.0543.6666666666666Topological domainCytoplasmic
TgeneKCNC2chr12:65612399chr12:75445097ENST0000035022815474_638229.0543.6666666666666Topological domainCytoplasmic
TgeneKCNC2chr12:65612399chr12:75445097ENST0000039328815304_313229.0619.0Topological domainCytoplasmic
TgeneKCNC2chr12:65612399chr12:75445097ENST0000039328815369_381229.0619.0Topological domainCytoplasmic
TgeneKCNC2chr12:65612399chr12:75445097ENST0000039328815474_638229.0619.0Topological domainCytoplasmic
TgeneKCNC2chr12:65612399chr12:75445097ENST0000054001814304_313229.0584.0Topological domainCytoplasmic
TgeneKCNC2chr12:65612399chr12:75445097ENST0000054001814369_381229.0584.0Topological domainCytoplasmic
TgeneKCNC2chr12:65612399chr12:75445097ENST0000054001814474_638229.0584.0Topological domainCytoplasmic
TgeneKCNC2chr12:65612399chr12:75445097ENST0000054851305304_313229.0477.0Topological domainCytoplasmic
TgeneKCNC2chr12:65612399chr12:75445097ENST0000054851305369_381229.0477.0Topological domainCytoplasmic
TgeneKCNC2chr12:65612399chr12:75445097ENST0000054851305474_638229.0477.0Topological domainCytoplasmic
TgeneKCNC2chr12:65612399chr12:75445097ENST0000054944615304_313229.0639.0Topological domainCytoplasmic
TgeneKCNC2chr12:65612399chr12:75445097ENST0000054944615369_381229.0639.0Topological domainCytoplasmic
TgeneKCNC2chr12:65612399chr12:75445097ENST0000054944615474_638229.0639.0Topological domainCytoplasmic
TgeneKCNC2chr12:65612399chr12:75445097ENST0000055043304304_313229.0630.0Topological domainCytoplasmic
TgeneKCNC2chr12:65612399chr12:75445097ENST0000055043304369_381229.0630.0Topological domainCytoplasmic
TgeneKCNC2chr12:65612399chr12:75445097ENST0000055043304474_638229.0630.0Topological domainCytoplasmic
TgeneKCNC2chr12:65612399chr12:75445097ENST0000029897216230_250229.0599.0TransmembraneHelical%3B Name%3DSegment S1
TgeneKCNC2chr12:65612399chr12:75445097ENST0000029897216284_303229.0599.0TransmembraneHelical%3B Name%3DSegment S2
TgeneKCNC2chr12:65612399chr12:75445097ENST0000029897216314_334229.0599.0TransmembraneHelical%3B Name%3DSegment S3
TgeneKCNC2chr12:65612399chr12:75445097ENST0000029897216346_368229.0599.0TransmembraneHelical%3B Voltage-sensor%3B Name%3DSegment S4
TgeneKCNC2chr12:65612399chr12:75445097ENST0000029897216382_402229.0599.0TransmembraneHelical%3B Name%3DSegment S5
TgeneKCNC2chr12:65612399chr12:75445097ENST0000029897216453_473229.0599.0TransmembraneHelical%3B Name%3DSegment S6
TgeneKCNC2chr12:65612399chr12:75445097ENST0000034166915230_250229.0630.0TransmembraneHelical%3B Name%3DSegment S1
TgeneKCNC2chr12:65612399chr12:75445097ENST0000034166915284_303229.0630.0TransmembraneHelical%3B Name%3DSegment S2
TgeneKCNC2chr12:65612399chr12:75445097ENST0000034166915314_334229.0630.0TransmembraneHelical%3B Name%3DSegment S3
TgeneKCNC2chr12:65612399chr12:75445097ENST0000034166915346_368229.0630.0TransmembraneHelical%3B Voltage-sensor%3B Name%3DSegment S4
TgeneKCNC2chr12:65612399chr12:75445097ENST0000034166915382_402229.0630.0TransmembraneHelical%3B Name%3DSegment S5
TgeneKCNC2chr12:65612399chr12:75445097ENST0000034166915453_473229.0630.0TransmembraneHelical%3B Name%3DSegment S6
TgeneKCNC2chr12:65612399chr12:75445097ENST0000035022815230_250229.0543.6666666666666TransmembraneHelical%3B Name%3DSegment S1
TgeneKCNC2chr12:65612399chr12:75445097ENST0000035022815284_303229.0543.6666666666666TransmembraneHelical%3B Name%3DSegment S2
TgeneKCNC2chr12:65612399chr12:75445097ENST0000035022815314_334229.0543.6666666666666TransmembraneHelical%3B Name%3DSegment S3
TgeneKCNC2chr12:65612399chr12:75445097ENST0000035022815346_368229.0543.6666666666666TransmembraneHelical%3B Voltage-sensor%3B Name%3DSegment S4
TgeneKCNC2chr12:65612399chr12:75445097ENST0000035022815382_402229.0543.6666666666666TransmembraneHelical%3B Name%3DSegment S5
TgeneKCNC2chr12:65612399chr12:75445097ENST0000035022815453_473229.0543.6666666666666TransmembraneHelical%3B Name%3DSegment S6
TgeneKCNC2chr12:65612399chr12:75445097ENST0000039328815230_250229.0619.0TransmembraneHelical%3B Name%3DSegment S1
TgeneKCNC2chr12:65612399chr12:75445097ENST0000039328815284_303229.0619.0TransmembraneHelical%3B Name%3DSegment S2
TgeneKCNC2chr12:65612399chr12:75445097ENST0000039328815314_334229.0619.0TransmembraneHelical%3B Name%3DSegment S3
TgeneKCNC2chr12:65612399chr12:75445097ENST0000039328815346_368229.0619.0TransmembraneHelical%3B Voltage-sensor%3B Name%3DSegment S4
TgeneKCNC2chr12:65612399chr12:75445097ENST0000039328815382_402229.0619.0TransmembraneHelical%3B Name%3DSegment S5
TgeneKCNC2chr12:65612399chr12:75445097ENST0000039328815453_473229.0619.0TransmembraneHelical%3B Name%3DSegment S6
TgeneKCNC2chr12:65612399chr12:75445097ENST0000054001814230_250229.0584.0TransmembraneHelical%3B Name%3DSegment S1
TgeneKCNC2chr12:65612399chr12:75445097ENST0000054001814284_303229.0584.0TransmembraneHelical%3B Name%3DSegment S2
TgeneKCNC2chr12:65612399chr12:75445097ENST0000054001814314_334229.0584.0TransmembraneHelical%3B Name%3DSegment S3
TgeneKCNC2chr12:65612399chr12:75445097ENST0000054001814346_368229.0584.0TransmembraneHelical%3B Voltage-sensor%3B Name%3DSegment S4
TgeneKCNC2chr12:65612399chr12:75445097ENST0000054001814382_402229.0584.0TransmembraneHelical%3B Name%3DSegment S5
TgeneKCNC2chr12:65612399chr12:75445097ENST0000054001814453_473229.0584.0TransmembraneHelical%3B Name%3DSegment S6
TgeneKCNC2chr12:65612399chr12:75445097ENST0000054851305230_250229.0477.0TransmembraneHelical%3B Name%3DSegment S1
TgeneKCNC2chr12:65612399chr12:75445097ENST0000054851305284_303229.0477.0TransmembraneHelical%3B Name%3DSegment S2
TgeneKCNC2chr12:65612399chr12:75445097ENST0000054851305314_334229.0477.0TransmembraneHelical%3B Name%3DSegment S3
TgeneKCNC2chr12:65612399chr12:75445097ENST0000054851305346_368229.0477.0TransmembraneHelical%3B Voltage-sensor%3B Name%3DSegment S4
TgeneKCNC2chr12:65612399chr12:75445097ENST0000054851305382_402229.0477.0TransmembraneHelical%3B Name%3DSegment S5
TgeneKCNC2chr12:65612399chr12:75445097ENST0000054851305453_473229.0477.0TransmembraneHelical%3B Name%3DSegment S6
TgeneKCNC2chr12:65612399chr12:75445097ENST0000054944615230_250229.0639.0TransmembraneHelical%3B Name%3DSegment S1
TgeneKCNC2chr12:65612399chr12:75445097ENST0000054944615284_303229.0639.0TransmembraneHelical%3B Name%3DSegment S2
TgeneKCNC2chr12:65612399chr12:75445097ENST0000054944615314_334229.0639.0TransmembraneHelical%3B Name%3DSegment S3
TgeneKCNC2chr12:65612399chr12:75445097ENST0000054944615346_368229.0639.0TransmembraneHelical%3B Voltage-sensor%3B Name%3DSegment S4
TgeneKCNC2chr12:65612399chr12:75445097ENST0000054944615382_402229.0639.0TransmembraneHelical%3B Name%3DSegment S5
TgeneKCNC2chr12:65612399chr12:75445097ENST0000054944615453_473229.0639.0TransmembraneHelical%3B Name%3DSegment S6
TgeneKCNC2chr12:65612399chr12:75445097ENST0000055043304230_250229.0630.0TransmembraneHelical%3B Name%3DSegment S1
TgeneKCNC2chr12:65612399chr12:75445097ENST0000055043304284_303229.0630.0TransmembraneHelical%3B Name%3DSegment S2
TgeneKCNC2chr12:65612399chr12:75445097ENST0000055043304314_334229.0630.0TransmembraneHelical%3B Name%3DSegment S3
TgeneKCNC2chr12:65612399chr12:75445097ENST0000055043304346_368229.0630.0TransmembraneHelical%3B Voltage-sensor%3B Name%3DSegment S4
TgeneKCNC2chr12:65612399chr12:75445097ENST0000055043304382_402229.0630.0TransmembraneHelical%3B Name%3DSegment S5
TgeneKCNC2chr12:65612399chr12:75445097ENST0000055043304453_473229.0630.0TransmembraneHelical%3B Name%3DSegment S6

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneLEMD3chr12:65612399chr12:75445097ENST00000308330+413635_640565.0912.0Compositional biasNote=Poly-Leu
HgeneLEMD3chr12:65612399chr12:75445097ENST00000308330+413659_662565.0912.0Compositional biasNote=Poly-Glu
HgeneLEMD3chr12:65612399chr12:75445097ENST00000308330+413707_726565.0912.0DNA binding.
HgeneLEMD3chr12:65612399chr12:75445097ENST00000308330+413628_648565.0912.0TransmembraneHelical
TgeneKCNC2chr12:65612399chr12:75445097ENST000002989721656_99229.0599.0Compositional biasNote=Gly/Pro-rich (insert)
TgeneKCNC2chr12:65612399chr12:75445097ENST000003416691556_99229.0630.0Compositional biasNote=Gly/Pro-rich (insert)
TgeneKCNC2chr12:65612399chr12:75445097ENST000003502281556_99229.0543.6666666666666Compositional biasNote=Gly/Pro-rich (insert)
TgeneKCNC2chr12:65612399chr12:75445097ENST000003932881556_99229.0619.0Compositional biasNote=Gly/Pro-rich (insert)
TgeneKCNC2chr12:65612399chr12:75445097ENST000005400181456_99229.0584.0Compositional biasNote=Gly/Pro-rich (insert)
TgeneKCNC2chr12:65612399chr12:75445097ENST000005485130556_99229.0477.0Compositional biasNote=Gly/Pro-rich (insert)
TgeneKCNC2chr12:65612399chr12:75445097ENST000005494461556_99229.0639.0Compositional biasNote=Gly/Pro-rich (insert)
TgeneKCNC2chr12:65612399chr12:75445097ENST000005504330456_99229.0630.0Compositional biasNote=Gly/Pro-rich (insert)
TgeneKCNC2chr12:65612399chr12:75445097ENST00000298972161_229229.0599.0Topological domainCytoplasmic
TgeneKCNC2chr12:65612399chr12:75445097ENST00000341669151_229229.0630.0Topological domainCytoplasmic
TgeneKCNC2chr12:65612399chr12:75445097ENST00000350228151_229229.0543.6666666666666Topological domainCytoplasmic
TgeneKCNC2chr12:65612399chr12:75445097ENST00000393288151_229229.0619.0Topological domainCytoplasmic
TgeneKCNC2chr12:65612399chr12:75445097ENST00000540018141_229229.0584.0Topological domainCytoplasmic
TgeneKCNC2chr12:65612399chr12:75445097ENST00000548513051_229229.0477.0Topological domainCytoplasmic
TgeneKCNC2chr12:65612399chr12:75445097ENST00000549446151_229229.0639.0Topological domainCytoplasmic
TgeneKCNC2chr12:65612399chr12:75445097ENST00000550433041_229229.0630.0Topological domainCytoplasmic


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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
LEMD3
KCNC2


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
HgeneLEMD3chr12:65612399chr12:75445097ENST00000308330+413699_911565.0912.0SMAD1%2C SMAD2%2C SMAD3 and SMAD5


Top

Related Drugs to LEMD3-KCNC2


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

Top

Related Diseases to LEMD3-KCNC2


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