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Fusion Gene Summary | |
Fusion Gene ORF analysis | |
Fusion Genomic Features | |
Fusion Protein Features | |
Fusion Gene Sequence | |
Fusion Gene PPI analysis | |
Related Drugs | |
Related Diseases |
Fusion gene:LEMD3-KCNC2 (FusionGDB2 ID:44190) |
Fusion Gene Summary for LEMD3-KCNC2 |
Fusion gene summary |
Fusion gene information | Fusion gene name: LEMD3-KCNC2 | Fusion gene ID: 44190 | Hgene | Tgene | Gene symbol | LEMD3 | KCNC2 | Gene ID | 23592 | 3747 |
Gene name | LEM domain containing 3 | potassium voltage-gated channel subfamily C member 2 | |
Synonyms | MAN1 | KV3.2 | |
Cytomap | 12q14.3 | 12q21.1 | |
Type of gene | protein-coding | protein-coding | |
Description | inner nuclear membrane protein Man1LEM domain-containing protein 3LEMD3/MKX fusionintegral inner nuclear membrane protein | potassium 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 date | 20200313 | 20200313 | |
UniProtAcc | Q9Y2U8 | . | |
Ensembl transtripts involved in fusion gene | ENST00000308330, ENST00000541171, | ENST00000550433, ENST00000548513, ENST00000549446, ENST00000298972, ENST00000341669, ENST00000350228, ENST00000540018, ENST00000393288, ENST00000548243, | |
Fusion gene scores | * DoF score | 13 X 8 X 6=624 | 15 X 5 X 6=450 |
# samples | 14 | 16 | |
** MAII score | log2(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 | PubMed: LEMD3 [Title/Abstract] AND KCNC2 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | LEMD3(65612399)-KCNC2(75445097), # samples:2 | ||
Anticipated loss of major functional domain due to fusion event. |
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | LEMD3 | GO:0030512 | negative regulation of transforming growth factor beta receptor signaling pathway | 15647271 |
Hgene | LEMD3 | GO:0030514 | negative regulation of BMP signaling pathway | 15647271 |
Hgene | LEMD3 | GO:0032926 | negative regulation of activin receptor signaling pathway | 15647271 |
Fusion 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. |
Fusion 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. |
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. |
Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChimerDB4 | SARC | TCGA-DX-AB2F-01A | LEMD3 | chr12 | 65612399 | + | KCNC2 | chr12 | 75445097 | - |
ChimerDB4 | SARC | TCGA-DX-AB2F-01A | LEMD3 | chr12 | 65612399 | - | KCNC2 | chr12 | 75445097 | - |
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Fusion Gene ORF analysis for LEMD3-KCNC2 |
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. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
In-frame | ENST00000308330 | ENST00000550433 | LEMD3 | chr12 | 65612399 | + | KCNC2 | chr12 | 75445097 | - |
In-frame | ENST00000308330 | ENST00000548513 | LEMD3 | chr12 | 65612399 | + | KCNC2 | chr12 | 75445097 | - |
In-frame | ENST00000308330 | ENST00000549446 | LEMD3 | chr12 | 65612399 | + | KCNC2 | chr12 | 75445097 | - |
In-frame | ENST00000308330 | ENST00000298972 | LEMD3 | chr12 | 65612399 | + | KCNC2 | chr12 | 75445097 | - |
In-frame | ENST00000308330 | ENST00000341669 | LEMD3 | chr12 | 65612399 | + | KCNC2 | chr12 | 75445097 | - |
In-frame | ENST00000308330 | ENST00000350228 | LEMD3 | chr12 | 65612399 | + | KCNC2 | chr12 | 75445097 | - |
In-frame | ENST00000308330 | ENST00000540018 | LEMD3 | chr12 | 65612399 | + | KCNC2 | chr12 | 75445097 | - |
In-frame | ENST00000308330 | ENST00000393288 | LEMD3 | chr12 | 65612399 | + | KCNC2 | chr12 | 75445097 | - |
5CDS-intron | ENST00000308330 | ENST00000548243 | LEMD3 | chr12 | 65612399 | + | KCNC2 | chr12 | 75445097 | - |
intron-3CDS | ENST00000541171 | ENST00000550433 | LEMD3 | chr12 | 65612399 | + | KCNC2 | chr12 | 75445097 | - |
intron-3CDS | ENST00000541171 | ENST00000548513 | LEMD3 | chr12 | 65612399 | + | KCNC2 | chr12 | 75445097 | - |
intron-3CDS | ENST00000541171 | ENST00000549446 | LEMD3 | chr12 | 65612399 | + | KCNC2 | chr12 | 75445097 | - |
intron-3CDS | ENST00000541171 | ENST00000298972 | LEMD3 | chr12 | 65612399 | + | KCNC2 | chr12 | 75445097 | - |
intron-3CDS | ENST00000541171 | ENST00000341669 | LEMD3 | chr12 | 65612399 | + | KCNC2 | chr12 | 75445097 | - |
intron-3CDS | ENST00000541171 | ENST00000350228 | LEMD3 | chr12 | 65612399 | + | KCNC2 | chr12 | 75445097 | - |
intron-3CDS | ENST00000541171 | ENST00000540018 | LEMD3 | chr12 | 65612399 | + | KCNC2 | chr12 | 75445097 | - |
intron-3CDS | ENST00000541171 | ENST00000393288 | LEMD3 | chr12 | 65612399 | + | KCNC2 | chr12 | 75445097 | - |
intron-intron | ENST00000541171 | ENST00000548243 | LEMD3 | chr12 | 65612399 | + | KCNC2 | chr12 | 75445097 | - |
ORFfinder result based on the fusion transcript sequence of in-frame fusion genes. |
Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
ENST00000308330 | LEMD3 | chr12 | 65612399 | + | ENST00000550433 | KCNC2 | chr12 | 75445097 | - | 3944 | 1721 | 26 | 2923 | 965 |
ENST00000308330 | LEMD3 | chr12 | 65612399 | + | ENST00000548513 | KCNC2 | chr12 | 75445097 | - | 4039 | 1721 | 26 | 2875 | 949 |
ENST00000308330 | LEMD3 | chr12 | 65612399 | + | ENST00000549446 | KCNC2 | chr12 | 75445097 | - | 5978 | 1721 | 26 | 2950 | 974 |
ENST00000308330 | LEMD3 | chr12 | 65612399 | + | ENST00000298972 | KCNC2 | chr12 | 75445097 | - | 4000 | 1721 | 26 | 2875 | 949 |
ENST00000308330 | LEMD3 | chr12 | 65612399 | + | ENST00000341669 | KCNC2 | chr12 | 75445097 | - | 3905 | 1721 | 26 | 2923 | 965 |
ENST00000308330 | LEMD3 | chr12 | 65612399 | + | ENST00000350228 | KCNC2 | chr12 | 75445097 | - | 3834 | 1721 | 26 | 2710 | 894 |
ENST00000308330 | LEMD3 | chr12 | 65612399 | + | ENST00000540018 | KCNC2 | chr12 | 75445097 | - | 2930 | 1721 | 26 | 2785 | 919 |
ENST00000308330 | LEMD3 | chr12 | 65612399 | + | ENST00000393288 | KCNC2 | chr12 | 75445097 | - | 3271 | 1721 | 26 | 2890 | 954 |
DeepORF 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. |
Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
ENST00000308330 | ENST00000550433 | LEMD3 | chr12 | 65612399 | + | KCNC2 | chr12 | 75445097 | - | 0.000335784 | 0.9996642 |
ENST00000308330 | ENST00000548513 | LEMD3 | chr12 | 65612399 | + | KCNC2 | chr12 | 75445097 | - | 0.000331491 | 0.9996685 |
ENST00000308330 | ENST00000549446 | LEMD3 | chr12 | 65612399 | + | KCNC2 | chr12 | 75445097 | - | 0.000188591 | 0.9998115 |
ENST00000308330 | ENST00000298972 | LEMD3 | chr12 | 65612399 | + | KCNC2 | chr12 | 75445097 | - | 0.000344913 | 0.9996551 |
ENST00000308330 | ENST00000341669 | LEMD3 | chr12 | 65612399 | + | KCNC2 | chr12 | 75445097 | - | 0.000347292 | 0.99965274 |
ENST00000308330 | ENST00000350228 | LEMD3 | chr12 | 65612399 | + | KCNC2 | chr12 | 75445097 | - | 0.000513596 | 0.9994863 |
ENST00000308330 | ENST00000540018 | LEMD3 | chr12 | 65612399 | + | KCNC2 | chr12 | 75445097 | - | 0.001043765 | 0.9989562 |
ENST00000308330 | ENST00000393288 | LEMD3 | chr12 | 65612399 | + | KCNC2 | chr12 | 75445097 | - | 0.000469937 | 0.9995301 |
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Fusion Genomic Features for LEMD3-KCNC2 |
FusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints. |
Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page. |
Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page. |
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Fusion Protein Features for LEMD3-KCNC2 |
Go to FGviewer for the breakpoints of 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. |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
LEMD3 | . |
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. |
Retention 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 * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
Hgene | LEMD3 | chr12:65612399 | chr12:75445097 | ENST00000308330 | + | 4 | 13 | 155_158 | 565.0 | 912.0 | Compositional bias | Note=Poly-Gly |
Hgene | LEMD3 | chr12:65612399 | chr12:75445097 | ENST00000308330 | + | 4 | 13 | 265_268 | 565.0 | 912.0 | Compositional bias | Note=Poly-Asp |
Hgene | LEMD3 | chr12:65612399 | chr12:75445097 | ENST00000308330 | + | 4 | 13 | 312_315 | 565.0 | 912.0 | Compositional bias | Note=Poly-Gly |
Hgene | LEMD3 | chr12:65612399 | chr12:75445097 | ENST00000308330 | + | 4 | 13 | 322_325 | 565.0 | 912.0 | Compositional bias | Note=Poly-Ala |
Hgene | LEMD3 | chr12:65612399 | chr12:75445097 | ENST00000308330 | + | 4 | 13 | 337_340 | 565.0 | 912.0 | Compositional bias | Note=Poly-Ala |
Hgene | LEMD3 | chr12:65612399 | chr12:75445097 | ENST00000308330 | + | 4 | 13 | 65_70 | 565.0 | 912.0 | Compositional bias | Note=Poly-Asn |
Hgene | LEMD3 | chr12:65612399 | chr12:75445097 | ENST00000308330 | + | 4 | 13 | 72_87 | 565.0 | 912.0 | Compositional bias | Note=Ala-rich |
Hgene | LEMD3 | chr12:65612399 | chr12:75445097 | ENST00000308330 | + | 4 | 13 | 82_87 | 565.0 | 912.0 | Compositional bias | Note=Poly-Ala |
Hgene | LEMD3 | chr12:65612399 | chr12:75445097 | ENST00000308330 | + | 4 | 13 | 6_50 | 565.0 | 912.0 | Domain | LEM |
Hgene | LEMD3 | chr12:65612399 | chr12:75445097 | ENST00000308330 | + | 4 | 13 | 475_495 | 565.0 | 912.0 | Transmembrane | Helical |
Tgene | KCNC2 | chr12:65612399 | chr12:75445097 | ENST00000298972 | 1 | 6 | 437_442 | 229.0 | 599.0 | Region | Selectivity filter | |
Tgene | KCNC2 | chr12:65612399 | chr12:75445097 | ENST00000341669 | 1 | 5 | 437_442 | 229.0 | 630.0 | Region | Selectivity filter | |
Tgene | KCNC2 | chr12:65612399 | chr12:75445097 | ENST00000350228 | 1 | 5 | 437_442 | 229.0 | 543.6666666666666 | Region | Selectivity filter | |
Tgene | KCNC2 | chr12:65612399 | chr12:75445097 | ENST00000393288 | 1 | 5 | 437_442 | 229.0 | 619.0 | Region | Selectivity filter | |
Tgene | KCNC2 | chr12:65612399 | chr12:75445097 | ENST00000540018 | 1 | 4 | 437_442 | 229.0 | 584.0 | Region | Selectivity filter | |
Tgene | KCNC2 | chr12:65612399 | chr12:75445097 | ENST00000548513 | 0 | 5 | 437_442 | 229.0 | 477.0 | Region | Selectivity filter | |
Tgene | KCNC2 | chr12:65612399 | chr12:75445097 | ENST00000549446 | 1 | 5 | 437_442 | 229.0 | 639.0 | Region | Selectivity filter | |
Tgene | KCNC2 | chr12:65612399 | chr12:75445097 | ENST00000550433 | 0 | 4 | 437_442 | 229.0 | 630.0 | Region | Selectivity filter | |
Tgene | KCNC2 | chr12:65612399 | chr12:75445097 | ENST00000298972 | 1 | 6 | 304_313 | 229.0 | 599.0 | Topological domain | Cytoplasmic | |
Tgene | KCNC2 | chr12:65612399 | chr12:75445097 | ENST00000298972 | 1 | 6 | 369_381 | 229.0 | 599.0 | Topological domain | Cytoplasmic | |
Tgene | KCNC2 | chr12:65612399 | chr12:75445097 | ENST00000298972 | 1 | 6 | 474_638 | 229.0 | 599.0 | Topological domain | Cytoplasmic | |
Tgene | KCNC2 | chr12:65612399 | chr12:75445097 | ENST00000341669 | 1 | 5 | 304_313 | 229.0 | 630.0 | Topological domain | Cytoplasmic | |
Tgene | KCNC2 | chr12:65612399 | chr12:75445097 | ENST00000341669 | 1 | 5 | 369_381 | 229.0 | 630.0 | Topological domain | Cytoplasmic | |
Tgene | KCNC2 | chr12:65612399 | chr12:75445097 | ENST00000341669 | 1 | 5 | 474_638 | 229.0 | 630.0 | Topological domain | Cytoplasmic | |
Tgene | KCNC2 | chr12:65612399 | chr12:75445097 | ENST00000350228 | 1 | 5 | 304_313 | 229.0 | 543.6666666666666 | Topological domain | Cytoplasmic | |
Tgene | KCNC2 | chr12:65612399 | chr12:75445097 | ENST00000350228 | 1 | 5 | 369_381 | 229.0 | 543.6666666666666 | Topological domain | Cytoplasmic | |
Tgene | KCNC2 | chr12:65612399 | chr12:75445097 | ENST00000350228 | 1 | 5 | 474_638 | 229.0 | 543.6666666666666 | Topological domain | Cytoplasmic | |
Tgene | KCNC2 | chr12:65612399 | chr12:75445097 | ENST00000393288 | 1 | 5 | 304_313 | 229.0 | 619.0 | Topological domain | Cytoplasmic | |
Tgene | KCNC2 | chr12:65612399 | chr12:75445097 | ENST00000393288 | 1 | 5 | 369_381 | 229.0 | 619.0 | Topological domain | Cytoplasmic | |
Tgene | KCNC2 | chr12:65612399 | chr12:75445097 | ENST00000393288 | 1 | 5 | 474_638 | 229.0 | 619.0 | Topological domain | Cytoplasmic | |
Tgene | KCNC2 | chr12:65612399 | chr12:75445097 | ENST00000540018 | 1 | 4 | 304_313 | 229.0 | 584.0 | Topological domain | Cytoplasmic | |
Tgene | KCNC2 | chr12:65612399 | chr12:75445097 | ENST00000540018 | 1 | 4 | 369_381 | 229.0 | 584.0 | Topological domain | Cytoplasmic | |
Tgene | KCNC2 | chr12:65612399 | chr12:75445097 | ENST00000540018 | 1 | 4 | 474_638 | 229.0 | 584.0 | Topological domain | Cytoplasmic | |
Tgene | KCNC2 | chr12:65612399 | chr12:75445097 | ENST00000548513 | 0 | 5 | 304_313 | 229.0 | 477.0 | Topological domain | Cytoplasmic | |
Tgene | KCNC2 | chr12:65612399 | chr12:75445097 | ENST00000548513 | 0 | 5 | 369_381 | 229.0 | 477.0 | Topological domain | Cytoplasmic | |
Tgene | KCNC2 | chr12:65612399 | chr12:75445097 | ENST00000548513 | 0 | 5 | 474_638 | 229.0 | 477.0 | Topological domain | Cytoplasmic | |
Tgene | KCNC2 | chr12:65612399 | chr12:75445097 | ENST00000549446 | 1 | 5 | 304_313 | 229.0 | 639.0 | Topological domain | Cytoplasmic | |
Tgene | KCNC2 | chr12:65612399 | chr12:75445097 | ENST00000549446 | 1 | 5 | 369_381 | 229.0 | 639.0 | Topological domain | Cytoplasmic | |
Tgene | KCNC2 | chr12:65612399 | chr12:75445097 | ENST00000549446 | 1 | 5 | 474_638 | 229.0 | 639.0 | Topological domain | Cytoplasmic | |
Tgene | KCNC2 | chr12:65612399 | chr12:75445097 | ENST00000550433 | 0 | 4 | 304_313 | 229.0 | 630.0 | Topological domain | Cytoplasmic | |
Tgene | KCNC2 | chr12:65612399 | chr12:75445097 | ENST00000550433 | 0 | 4 | 369_381 | 229.0 | 630.0 | Topological domain | Cytoplasmic | |
Tgene | KCNC2 | chr12:65612399 | chr12:75445097 | ENST00000550433 | 0 | 4 | 474_638 | 229.0 | 630.0 | Topological domain | Cytoplasmic | |
Tgene | KCNC2 | chr12:65612399 | chr12:75445097 | ENST00000298972 | 1 | 6 | 230_250 | 229.0 | 599.0 | Transmembrane | Helical%3B Name%3DSegment S1 | |
Tgene | KCNC2 | chr12:65612399 | chr12:75445097 | ENST00000298972 | 1 | 6 | 284_303 | 229.0 | 599.0 | Transmembrane | Helical%3B Name%3DSegment S2 | |
Tgene | KCNC2 | chr12:65612399 | chr12:75445097 | ENST00000298972 | 1 | 6 | 314_334 | 229.0 | 599.0 | Transmembrane | Helical%3B Name%3DSegment S3 | |
Tgene | KCNC2 | chr12:65612399 | chr12:75445097 | ENST00000298972 | 1 | 6 | 346_368 | 229.0 | 599.0 | Transmembrane | Helical%3B Voltage-sensor%3B Name%3DSegment S4 | |
Tgene | KCNC2 | chr12:65612399 | chr12:75445097 | ENST00000298972 | 1 | 6 | 382_402 | 229.0 | 599.0 | Transmembrane | Helical%3B Name%3DSegment S5 | |
Tgene | KCNC2 | chr12:65612399 | chr12:75445097 | ENST00000298972 | 1 | 6 | 453_473 | 229.0 | 599.0 | Transmembrane | Helical%3B Name%3DSegment S6 | |
Tgene | KCNC2 | chr12:65612399 | chr12:75445097 | ENST00000341669 | 1 | 5 | 230_250 | 229.0 | 630.0 | Transmembrane | Helical%3B Name%3DSegment S1 | |
Tgene | KCNC2 | chr12:65612399 | chr12:75445097 | ENST00000341669 | 1 | 5 | 284_303 | 229.0 | 630.0 | Transmembrane | Helical%3B Name%3DSegment S2 | |
Tgene | KCNC2 | chr12:65612399 | chr12:75445097 | ENST00000341669 | 1 | 5 | 314_334 | 229.0 | 630.0 | Transmembrane | Helical%3B Name%3DSegment S3 | |
Tgene | KCNC2 | chr12:65612399 | chr12:75445097 | ENST00000341669 | 1 | 5 | 346_368 | 229.0 | 630.0 | Transmembrane | Helical%3B Voltage-sensor%3B Name%3DSegment S4 | |
Tgene | KCNC2 | chr12:65612399 | chr12:75445097 | ENST00000341669 | 1 | 5 | 382_402 | 229.0 | 630.0 | Transmembrane | Helical%3B Name%3DSegment S5 | |
Tgene | KCNC2 | chr12:65612399 | chr12:75445097 | ENST00000341669 | 1 | 5 | 453_473 | 229.0 | 630.0 | Transmembrane | Helical%3B Name%3DSegment S6 | |
Tgene | KCNC2 | chr12:65612399 | chr12:75445097 | ENST00000350228 | 1 | 5 | 230_250 | 229.0 | 543.6666666666666 | Transmembrane | Helical%3B Name%3DSegment S1 | |
Tgene | KCNC2 | chr12:65612399 | chr12:75445097 | ENST00000350228 | 1 | 5 | 284_303 | 229.0 | 543.6666666666666 | Transmembrane | Helical%3B Name%3DSegment S2 | |
Tgene | KCNC2 | chr12:65612399 | chr12:75445097 | ENST00000350228 | 1 | 5 | 314_334 | 229.0 | 543.6666666666666 | Transmembrane | Helical%3B Name%3DSegment S3 | |
Tgene | KCNC2 | chr12:65612399 | chr12:75445097 | ENST00000350228 | 1 | 5 | 346_368 | 229.0 | 543.6666666666666 | Transmembrane | Helical%3B Voltage-sensor%3B Name%3DSegment S4 | |
Tgene | KCNC2 | chr12:65612399 | chr12:75445097 | ENST00000350228 | 1 | 5 | 382_402 | 229.0 | 543.6666666666666 | Transmembrane | Helical%3B Name%3DSegment S5 | |
Tgene | KCNC2 | chr12:65612399 | chr12:75445097 | ENST00000350228 | 1 | 5 | 453_473 | 229.0 | 543.6666666666666 | Transmembrane | Helical%3B Name%3DSegment S6 | |
Tgene | KCNC2 | chr12:65612399 | chr12:75445097 | ENST00000393288 | 1 | 5 | 230_250 | 229.0 | 619.0 | Transmembrane | Helical%3B Name%3DSegment S1 | |
Tgene | KCNC2 | chr12:65612399 | chr12:75445097 | ENST00000393288 | 1 | 5 | 284_303 | 229.0 | 619.0 | Transmembrane | Helical%3B Name%3DSegment S2 | |
Tgene | KCNC2 | chr12:65612399 | chr12:75445097 | ENST00000393288 | 1 | 5 | 314_334 | 229.0 | 619.0 | Transmembrane | Helical%3B Name%3DSegment S3 | |
Tgene | KCNC2 | chr12:65612399 | chr12:75445097 | ENST00000393288 | 1 | 5 | 346_368 | 229.0 | 619.0 | Transmembrane | Helical%3B Voltage-sensor%3B Name%3DSegment S4 | |
Tgene | KCNC2 | chr12:65612399 | chr12:75445097 | ENST00000393288 | 1 | 5 | 382_402 | 229.0 | 619.0 | Transmembrane | Helical%3B Name%3DSegment S5 | |
Tgene | KCNC2 | chr12:65612399 | chr12:75445097 | ENST00000393288 | 1 | 5 | 453_473 | 229.0 | 619.0 | Transmembrane | Helical%3B Name%3DSegment S6 | |
Tgene | KCNC2 | chr12:65612399 | chr12:75445097 | ENST00000540018 | 1 | 4 | 230_250 | 229.0 | 584.0 | Transmembrane | Helical%3B Name%3DSegment S1 | |
Tgene | KCNC2 | chr12:65612399 | chr12:75445097 | ENST00000540018 | 1 | 4 | 284_303 | 229.0 | 584.0 | Transmembrane | Helical%3B Name%3DSegment S2 | |
Tgene | KCNC2 | chr12:65612399 | chr12:75445097 | ENST00000540018 | 1 | 4 | 314_334 | 229.0 | 584.0 | Transmembrane | Helical%3B Name%3DSegment S3 | |
Tgene | KCNC2 | chr12:65612399 | chr12:75445097 | ENST00000540018 | 1 | 4 | 346_368 | 229.0 | 584.0 | Transmembrane | Helical%3B Voltage-sensor%3B Name%3DSegment S4 | |
Tgene | KCNC2 | chr12:65612399 | chr12:75445097 | ENST00000540018 | 1 | 4 | 382_402 | 229.0 | 584.0 | Transmembrane | Helical%3B Name%3DSegment S5 | |
Tgene | KCNC2 | chr12:65612399 | chr12:75445097 | ENST00000540018 | 1 | 4 | 453_473 | 229.0 | 584.0 | Transmembrane | Helical%3B Name%3DSegment S6 | |
Tgene | KCNC2 | chr12:65612399 | chr12:75445097 | ENST00000548513 | 0 | 5 | 230_250 | 229.0 | 477.0 | Transmembrane | Helical%3B Name%3DSegment S1 | |
Tgene | KCNC2 | chr12:65612399 | chr12:75445097 | ENST00000548513 | 0 | 5 | 284_303 | 229.0 | 477.0 | Transmembrane | Helical%3B Name%3DSegment S2 | |
Tgene | KCNC2 | chr12:65612399 | chr12:75445097 | ENST00000548513 | 0 | 5 | 314_334 | 229.0 | 477.0 | Transmembrane | Helical%3B Name%3DSegment S3 | |
Tgene | KCNC2 | chr12:65612399 | chr12:75445097 | ENST00000548513 | 0 | 5 | 346_368 | 229.0 | 477.0 | Transmembrane | Helical%3B Voltage-sensor%3B Name%3DSegment S4 | |
Tgene | KCNC2 | chr12:65612399 | chr12:75445097 | ENST00000548513 | 0 | 5 | 382_402 | 229.0 | 477.0 | Transmembrane | Helical%3B Name%3DSegment S5 | |
Tgene | KCNC2 | chr12:65612399 | chr12:75445097 | ENST00000548513 | 0 | 5 | 453_473 | 229.0 | 477.0 | Transmembrane | Helical%3B Name%3DSegment S6 | |
Tgene | KCNC2 | chr12:65612399 | chr12:75445097 | ENST00000549446 | 1 | 5 | 230_250 | 229.0 | 639.0 | Transmembrane | Helical%3B Name%3DSegment S1 | |
Tgene | KCNC2 | chr12:65612399 | chr12:75445097 | ENST00000549446 | 1 | 5 | 284_303 | 229.0 | 639.0 | Transmembrane | Helical%3B Name%3DSegment S2 | |
Tgene | KCNC2 | chr12:65612399 | chr12:75445097 | ENST00000549446 | 1 | 5 | 314_334 | 229.0 | 639.0 | Transmembrane | Helical%3B Name%3DSegment S3 | |
Tgene | KCNC2 | chr12:65612399 | chr12:75445097 | ENST00000549446 | 1 | 5 | 346_368 | 229.0 | 639.0 | Transmembrane | Helical%3B Voltage-sensor%3B Name%3DSegment S4 | |
Tgene | KCNC2 | chr12:65612399 | chr12:75445097 | ENST00000549446 | 1 | 5 | 382_402 | 229.0 | 639.0 | Transmembrane | Helical%3B Name%3DSegment S5 | |
Tgene | KCNC2 | chr12:65612399 | chr12:75445097 | ENST00000549446 | 1 | 5 | 453_473 | 229.0 | 639.0 | Transmembrane | Helical%3B Name%3DSegment S6 | |
Tgene | KCNC2 | chr12:65612399 | chr12:75445097 | ENST00000550433 | 0 | 4 | 230_250 | 229.0 | 630.0 | Transmembrane | Helical%3B Name%3DSegment S1 | |
Tgene | KCNC2 | chr12:65612399 | chr12:75445097 | ENST00000550433 | 0 | 4 | 284_303 | 229.0 | 630.0 | Transmembrane | Helical%3B Name%3DSegment S2 | |
Tgene | KCNC2 | chr12:65612399 | chr12:75445097 | ENST00000550433 | 0 | 4 | 314_334 | 229.0 | 630.0 | Transmembrane | Helical%3B Name%3DSegment S3 | |
Tgene | KCNC2 | chr12:65612399 | chr12:75445097 | ENST00000550433 | 0 | 4 | 346_368 | 229.0 | 630.0 | Transmembrane | Helical%3B Voltage-sensor%3B Name%3DSegment S4 | |
Tgene | KCNC2 | chr12:65612399 | chr12:75445097 | ENST00000550433 | 0 | 4 | 382_402 | 229.0 | 630.0 | Transmembrane | Helical%3B Name%3DSegment S5 | |
Tgene | KCNC2 | chr12:65612399 | chr12:75445097 | ENST00000550433 | 0 | 4 | 453_473 | 229.0 | 630.0 | Transmembrane | Helical%3B Name%3DSegment S6 |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
Hgene | LEMD3 | chr12:65612399 | chr12:75445097 | ENST00000308330 | + | 4 | 13 | 635_640 | 565.0 | 912.0 | Compositional bias | Note=Poly-Leu |
Hgene | LEMD3 | chr12:65612399 | chr12:75445097 | ENST00000308330 | + | 4 | 13 | 659_662 | 565.0 | 912.0 | Compositional bias | Note=Poly-Glu |
Hgene | LEMD3 | chr12:65612399 | chr12:75445097 | ENST00000308330 | + | 4 | 13 | 707_726 | 565.0 | 912.0 | DNA binding | . |
Hgene | LEMD3 | chr12:65612399 | chr12:75445097 | ENST00000308330 | + | 4 | 13 | 628_648 | 565.0 | 912.0 | Transmembrane | Helical |
Tgene | KCNC2 | chr12:65612399 | chr12:75445097 | ENST00000298972 | 1 | 6 | 56_99 | 229.0 | 599.0 | Compositional bias | Note=Gly/Pro-rich (insert) | |
Tgene | KCNC2 | chr12:65612399 | chr12:75445097 | ENST00000341669 | 1 | 5 | 56_99 | 229.0 | 630.0 | Compositional bias | Note=Gly/Pro-rich (insert) | |
Tgene | KCNC2 | chr12:65612399 | chr12:75445097 | ENST00000350228 | 1 | 5 | 56_99 | 229.0 | 543.6666666666666 | Compositional bias | Note=Gly/Pro-rich (insert) | |
Tgene | KCNC2 | chr12:65612399 | chr12:75445097 | ENST00000393288 | 1 | 5 | 56_99 | 229.0 | 619.0 | Compositional bias | Note=Gly/Pro-rich (insert) | |
Tgene | KCNC2 | chr12:65612399 | chr12:75445097 | ENST00000540018 | 1 | 4 | 56_99 | 229.0 | 584.0 | Compositional bias | Note=Gly/Pro-rich (insert) | |
Tgene | KCNC2 | chr12:65612399 | chr12:75445097 | ENST00000548513 | 0 | 5 | 56_99 | 229.0 | 477.0 | Compositional bias | Note=Gly/Pro-rich (insert) | |
Tgene | KCNC2 | chr12:65612399 | chr12:75445097 | ENST00000549446 | 1 | 5 | 56_99 | 229.0 | 639.0 | Compositional bias | Note=Gly/Pro-rich (insert) | |
Tgene | KCNC2 | chr12:65612399 | chr12:75445097 | ENST00000550433 | 0 | 4 | 56_99 | 229.0 | 630.0 | Compositional bias | Note=Gly/Pro-rich (insert) | |
Tgene | KCNC2 | chr12:65612399 | chr12:75445097 | ENST00000298972 | 1 | 6 | 1_229 | 229.0 | 599.0 | Topological domain | Cytoplasmic | |
Tgene | KCNC2 | chr12:65612399 | chr12:75445097 | ENST00000341669 | 1 | 5 | 1_229 | 229.0 | 630.0 | Topological domain | Cytoplasmic | |
Tgene | KCNC2 | chr12:65612399 | chr12:75445097 | ENST00000350228 | 1 | 5 | 1_229 | 229.0 | 543.6666666666666 | Topological domain | Cytoplasmic | |
Tgene | KCNC2 | chr12:65612399 | chr12:75445097 | ENST00000393288 | 1 | 5 | 1_229 | 229.0 | 619.0 | Topological domain | Cytoplasmic | |
Tgene | KCNC2 | chr12:65612399 | chr12:75445097 | ENST00000540018 | 1 | 4 | 1_229 | 229.0 | 584.0 | Topological domain | Cytoplasmic | |
Tgene | KCNC2 | chr12:65612399 | chr12:75445097 | ENST00000548513 | 0 | 5 | 1_229 | 229.0 | 477.0 | Topological domain | Cytoplasmic | |
Tgene | KCNC2 | chr12:65612399 | chr12:75445097 | ENST00000549446 | 1 | 5 | 1_229 | 229.0 | 639.0 | Topological domain | Cytoplasmic | |
Tgene | KCNC2 | chr12:65612399 | chr12:75445097 | ENST00000550433 | 0 | 4 | 1_229 | 229.0 | 630.0 | Topological domain | Cytoplasmic |
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Fusion Gene Sequence for LEMD3-KCNC2 |
For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
>In-frame_ENST00000308330_ENST00000550433_TCGA-DX-AB2F-01A_LEMD3_chr12_65612399_+_KCNC2_chr12_75445097_length(transcript)=3944nt_BP=1721nt AGCTTGTAAAACACCCTGGAGAGAAAATGGCGGCGGCAGCAGCTTCGGCGCCTCAGCAGCTCTCGGATGAGGAGCTTTTCTCTCAGCTCC GCCGTTACGGCCTGTCTCCCGGACCAGTGACGGAGAGCACCCGCCCGGTCTACCTCAAGAAGCTGAAGAAGCTTCGAGAGGAAGAGCAGC AACAGCACCGGTCAGGGGGCCGCGGCAACAAGACGCGGAACAGTAATAACAATAACACGGCAGCCGCCACGGTCGCAGCCGCGGGACCAG CGGCGGCGGCGGCCGCGGGGATGGGGGTCCGGCCGGTCTCGGGCGACCTCTCCTACTTACGGACTCCTGGGGGCCTGTGCCGAATCTCGG CCTCTGGCCCAGAGAGCCTCCTGGGAGGGCCCGGGGGCGCCTCCGCCGCCCCCGCGGCTGGCAGCAAAGTGCTGCTGGGCTTCAGCTCGG ACGAGTCGGACGTGGAGGCCAGTCCCCGGGACCAGGCCGGCGGCGGCGGGAGGAAAGACCGGGCTTCGCTCCAGTACCGCGGGCTCAAAG CGCCGCCGGCGCCCCTGGCCGCCAGCGAGGTGACTAACAGCAACTCTGCAGAGCGAAGGAAGCCCCACTCGTGGTGGGGGGCCAGGAGGC CGGCGGGCCCCGAGCTGCAGACCCCGCCGGGGAAAGATGGAGCAGTGGAGGACGAGGAAGGGGAGGGAGAGGACGGTGAGGAGAGGGACC CGGAGACCGAGGAGCCGCTCTGGGCGAGCCGGACCGTGAATGGCAGCCGGCTTGTCCCCTACAGCTGCCGGGAAAACTATTCGGACTCAG AGGAAGAGGACGACGACGACGTGGCCTCCAGCAGACAGGTATTAAAGGACGACTCCCTTTCCCGGCATCGGCCCAGACGAACCCATAGTA AGCCTCTCCCCCCGCTGACTGCTAAATCGGCCGGCGGCAGGCTGGAGACTTCAGTTCAGGGAGGGGGAGGACTCGCGATGAATGACAGGG CGGCGGCTGCCGGGAGTCTAGACAGGAGCCGAAACCTCGAAGAGGCGGCGGCCGCGGAGCAGGGAGGAGGGTGTGATCAAGTGGACTCCA GCCCCGTTCCTAGATACCGTGTTAACGCTAAGAAACTGACCCCTCTCCTGCCCCCGCCACTTACTGACATGGACTCAACCTTGGATTCGT CAACAGGCTCCCTTCTGAAAACCAATAATCATATTGGCGGTGGGGCCTTCAGTGTGGACTCCCCCAGGATTTATTCTAACAGTCTCCCTC CCAGTGCGGCGGTGGCCGCCTCTAGTTCACTCAGGATCAATCACGCCAATCATACGGGCTCCAATCATACCTACCTGAAAAACACATACA ACAAACCGAAGCTTTCCGAACCCGAAGAGGAACTTCTCCAGCAATTTAAACGGGAGGAGGTGTCCCCAACAGGGAGTTTCAGTGCCCACT ACTTGTCGATGTTTCTCTTAACTGCTGCCTGCTTATTTTTCCTAATACTGGGACTGACTTACCTAGGAATGAGAGGGACAGGAGTATCTG AGGATGGAGAACTCAGCATAGAAAACCCCTTTGGTGAAACATTTGGAAAAATACAAGAAAGTGAAAAAACTCTTATGATGAACACATTAT ATAAGCTTCATGATCGATTGGCACAGCTTGCAGGAGATCATGAATGTGGCAGTTCTAGTCAAAGAACGCTTTCTGTTCAAGAGGCAGCTG CGTATTTAAAATTTATTGCTTTTGCTTCTTTATTCTTCATCCTGGTTTCAATTACAACTTTTTGCCTGGAAACACATGAAGCTTTCAATA TTGTTAAAAACAAGACAGAACCAGTCATCAATGGCACAAGTGTTGTTCTACAGTATGAAATTGAAACGGATCCTGCCTTGACGTATGTAG AAGGAGTGTGTGTGGTGTGGTTTACTTTTGAATTTTTAGTCCGTATTGTTTTTTCACCCAATAAACTTGAATTCATCAAAAATCTCTTGA ATATCATTGACTTTGTGGCCATCCTACCTTTCTACTTAGAGGTGGGACTCAGTGGGCTGTCATCCAAAGCTGCTAAAGATGTGCTTGGCT TCCTCAGGGTGGTAAGGTTTGTGAGGATCCTGAGAATTTTCAAGCTCACCCGCCATTTTGTAGGTCTGAGGGTGCTTGGACATACTCTTC GAGCTAGTACTAATGAATTTTTGCTGCTGATAATTTTCCTGGCTCTAGGAGTTTTGATATTTGCTACCATGATCTACTATGCCGAGAGAG TGGGAGCTCAACCTAACGACCCTTCAGCTAGTGAGCACACACAGTTCAAAAACATTCCCATTGGGTTCTGGTGGGCTGTAGTGACCATGA CTACCCTGGGTTATGGGGATATGTACCCCCAAACATGGTCAGGCATGCTGGTGGGAGCCCTGTGTGCTCTGGCTGGAGTGCTGACAATAG CCATGCCAGTGCCTGTCATTGTCAATAATTTTGGAATGTACTACTCCTTGGCAATGGCAAAGCAGAAACTTCCAAGGAAAAGAAAGAAGC ACATCCCTCCTGCTCCTCAGGCAAGCTCACCTACTTTTTGCAAGACAGAATTAAATATGGCCTGCAATAGTACACAGAGTGACACATGTC TGGGCAAAGACAATCGACTTCTGGAACATAACAGATCAGTGTTATCAGGTGACGACAGTACAGGAAGTGAGCCGCCACTATCACCCCCAG AAAGGCTCCCCATCAGACGCTCTAGTACCAGAGACAAAAACAGAAGAGGGGAAACATGTTTCCTACTGACGACAGGTGATTACACGTGTG CTTCTGATGGAGGGATCAGGAAAGTGTTGTACAGAATTTATCATGGATTATTGACTGCTGAGAAAGGGACAGTGGAATTTAGCCATACCA AGGACTATACTGGAAACAGACTTCTGCTGCTGAATGTGCCCTGATGTGACCAGGTTGCACTTGGAAGAGATCCTCGCGTCTTCATGAGGC ACTTAAAGCTTATAAAAGAACTGCGGCTGGAACTCATCTGGTGCTCCCCATGAGAGTGCTCTGCTTGTAGACTGGCCAGTGTCCATGAAA CAACTGTAAATACCAACATGTGTGCATGGGTCAACAGTCTTGGCCATTTCTCATCAAAAGAAGCCAAATTCATGATCAACATCTCTGAAG TTTCAAGTAAGGCCCACACTTCTTTGAATTACTCTTCATGGGCCCACATTAGGTTGTGCTGTGAATTACTTAAGGCAGTGATACTGATGT AGTATAGTTTTGTCTTAATTTCCCTTATTTCTACTTCTTTGGTTGAATCTATGAACTTGATTGTATAATTTTCTTATAAATTACTGATGT AATCAGCTTGTCAATTATGTTGTGAAATTGTTAGTATTCATTTATCAAAAATGACCTATGTTTAGTCACATATTTGTTTAGTTCTGGGAA ATTGTTATAGCTTAAATGGAACTCACCAACATTATTCATAGTTTAAGTCTTTTATCATTATTACCTCAATTATAAATATTACAAAAACAT AATTCTGGCAATGAGAGTATTTTTTTATTCAATGATCAAGGAGCAATGTCAGTATATAGTAGAATATCAATTAAATTATATCCTAAAATG TATATTTTGCATAAAAGAGATATTCTTTAATCAATTACTTTTTTGTGAGTTTTGTGGCAAATGAAGCTTGTACGTGTCTTTAAAACTGTT GTAGATGAAACTGTATAAGATTTTTACATCTTGCTTAATCAATATTTTCAGAGTCTATTAGTTCCCCTGGGATTCTGAATATAACATATA GCCTATTATAAATCCCTGTATCGTGGACCTTTTGTGAACATTTCAAGGCGCATGCACAACCTTGATGATAACCAGTGGAAATGTAACTAA >In-frame_ENST00000308330_ENST00000550433_TCGA-DX-AB2F-01A_LEMD3_chr12_65612399_+_KCNC2_chr12_75445097_length(amino acids)=965AA_start in transcript=26_stop in transcript=2923 MAAAAASAPQQLSDEELFSQLRRYGLSPGPVTESTRPVYLKKLKKLREEEQQQHRSGGRGNKTRNSNNNNTAAATVAAAGPAAAAAAGMG VRPVSGDLSYLRTPGGLCRISASGPESLLGGPGGASAAPAAGSKVLLGFSSDESDVEASPRDQAGGGGRKDRASLQYRGLKAPPAPLAAS EVTNSNSAERRKPHSWWGARRPAGPELQTPPGKDGAVEDEEGEGEDGEERDPETEEPLWASRTVNGSRLVPYSCRENYSDSEEEDDDDVA SSRQVLKDDSLSRHRPRRTHSKPLPPLTAKSAGGRLETSVQGGGGLAMNDRAAAAGSLDRSRNLEEAAAAEQGGGCDQVDSSPVPRYRVN AKKLTPLLPPPLTDMDSTLDSSTGSLLKTNNHIGGGAFSVDSPRIYSNSLPPSAAVAASSSLRINHANHTGSNHTYLKNTYNKPKLSEPE EELLQQFKREEVSPTGSFSAHYLSMFLLTAACLFFLILGLTYLGMRGTGVSEDGELSIENPFGETFGKIQESEKTLMMNTLYKLHDRLAQ LAGDHECGSSSQRTLSVQEAAAYLKFIAFASLFFILVSITTFCLETHEAFNIVKNKTEPVINGTSVVLQYEIETDPALTYVEGVCVVWFT FEFLVRIVFSPNKLEFIKNLLNIIDFVAILPFYLEVGLSGLSSKAAKDVLGFLRVVRFVRILRIFKLTRHFVGLRVLGHTLRASTNEFLL LIIFLALGVLIFATMIYYAERVGAQPNDPSASEHTQFKNIPIGFWWAVVTMTTLGYGDMYPQTWSGMLVGALCALAGVLTIAMPVPVIVN NFGMYYSLAMAKQKLPRKRKKHIPPAPQASSPTFCKTELNMACNSTQSDTCLGKDNRLLEHNRSVLSGDDSTGSEPPLSPPERLPIRRSS -------------------------------------------------------------- >In-frame_ENST00000308330_ENST00000548513_TCGA-DX-AB2F-01A_LEMD3_chr12_65612399_+_KCNC2_chr12_75445097_length(transcript)=4039nt_BP=1721nt AGCTTGTAAAACACCCTGGAGAGAAAATGGCGGCGGCAGCAGCTTCGGCGCCTCAGCAGCTCTCGGATGAGGAGCTTTTCTCTCAGCTCC GCCGTTACGGCCTGTCTCCCGGACCAGTGACGGAGAGCACCCGCCCGGTCTACCTCAAGAAGCTGAAGAAGCTTCGAGAGGAAGAGCAGC AACAGCACCGGTCAGGGGGCCGCGGCAACAAGACGCGGAACAGTAATAACAATAACACGGCAGCCGCCACGGTCGCAGCCGCGGGACCAG CGGCGGCGGCGGCCGCGGGGATGGGGGTCCGGCCGGTCTCGGGCGACCTCTCCTACTTACGGACTCCTGGGGGCCTGTGCCGAATCTCGG CCTCTGGCCCAGAGAGCCTCCTGGGAGGGCCCGGGGGCGCCTCCGCCGCCCCCGCGGCTGGCAGCAAAGTGCTGCTGGGCTTCAGCTCGG ACGAGTCGGACGTGGAGGCCAGTCCCCGGGACCAGGCCGGCGGCGGCGGGAGGAAAGACCGGGCTTCGCTCCAGTACCGCGGGCTCAAAG CGCCGCCGGCGCCCCTGGCCGCCAGCGAGGTGACTAACAGCAACTCTGCAGAGCGAAGGAAGCCCCACTCGTGGTGGGGGGCCAGGAGGC CGGCGGGCCCCGAGCTGCAGACCCCGCCGGGGAAAGATGGAGCAGTGGAGGACGAGGAAGGGGAGGGAGAGGACGGTGAGGAGAGGGACC CGGAGACCGAGGAGCCGCTCTGGGCGAGCCGGACCGTGAATGGCAGCCGGCTTGTCCCCTACAGCTGCCGGGAAAACTATTCGGACTCAG AGGAAGAGGACGACGACGACGTGGCCTCCAGCAGACAGGTATTAAAGGACGACTCCCTTTCCCGGCATCGGCCCAGACGAACCCATAGTA AGCCTCTCCCCCCGCTGACTGCTAAATCGGCCGGCGGCAGGCTGGAGACTTCAGTTCAGGGAGGGGGAGGACTCGCGATGAATGACAGGG CGGCGGCTGCCGGGAGTCTAGACAGGAGCCGAAACCTCGAAGAGGCGGCGGCCGCGGAGCAGGGAGGAGGGTGTGATCAAGTGGACTCCA GCCCCGTTCCTAGATACCGTGTTAACGCTAAGAAACTGACCCCTCTCCTGCCCCCGCCACTTACTGACATGGACTCAACCTTGGATTCGT CAACAGGCTCCCTTCTGAAAACCAATAATCATATTGGCGGTGGGGCCTTCAGTGTGGACTCCCCCAGGATTTATTCTAACAGTCTCCCTC CCAGTGCGGCGGTGGCCGCCTCTAGTTCACTCAGGATCAATCACGCCAATCATACGGGCTCCAATCATACCTACCTGAAAAACACATACA ACAAACCGAAGCTTTCCGAACCCGAAGAGGAACTTCTCCAGCAATTTAAACGGGAGGAGGTGTCCCCAACAGGGAGTTTCAGTGCCCACT ACTTGTCGATGTTTCTCTTAACTGCTGCCTGCTTATTTTTCCTAATACTGGGACTGACTTACCTAGGAATGAGAGGGACAGGAGTATCTG AGGATGGAGAACTCAGCATAGAAAACCCCTTTGGTGAAACATTTGGAAAAATACAAGAAAGTGAAAAAACTCTTATGATGAACACATTAT ATAAGCTTCATGATCGATTGGCACAGCTTGCAGGAGATCATGAATGTGGCAGTTCTAGTCAAAGAACGCTTTCTGTTCAAGAGGCAGCTG CGTATTTAAAATTTATTGCTTTTGCTTCTTTATTCTTCATCCTGGTTTCAATTACAACTTTTTGCCTGGAAACACATGAAGCTTTCAATA TTGTTAAAAACAAGACAGAACCAGTCATCAATGGCACAAGTGTTGTTCTACAGTATGAAATTGAAACGGATCCTGCCTTGACGTATGTAG AAGGAGTGTGTGTGGTGTGGTTTACTTTTGAATTTTTAGTCCGTATTGTTTTTTCACCCAATAAACTTGAATTCATCAAAAATCTCTTGA ATATCATTGACTTTGTGGCCATCCTACCTTTCTACTTAGAGGTGGGACTCAGTGGGCTGTCATCCAAAGCTGCTAAAGATGTGCTTGGCT TCCTCAGGGTGGTAAGGTTTGTGAGGATCCTGAGAATTTTCAAGCTCACCCGCCATTTTGTAGGTCTGAGGGTGCTTGGACATACTCTTC GAGCTAGTACTAATGAATTTTTGCTGCTGATAATTTTCCTGGCTCTAGGAGTTTTGATATTTGCTACCATGATCTACTATGCCGAGAGAG TGGGAGCTCAACCTAACGACCCTTCAGCTAGTGAGCACACACAGTTCAAAAACATTCCCATTGGGTTCTGGTGGGCTGTAGTGACCATGA CTACCCTGGGTTATGGGGATATGTACCCCCAAACATGGTCAGGCATGCTGGTGGGAGCCCTGTGTGCTCTGGCTGGAGTGCTGACAATAG CCATGCCAGTGCCTGTCATTGTCAATAATTTTGGAATGTACTACTCCTTGGCAATGGCAAAGCAGAAACTTCCAAGGAAAAGAAAGAAGC ACATCCCTCCTGCTCCTCAGGCAAGCTCACCTACTTTTTGCAAGACAGAATTAAATATGGCCTGCAATAGTACACAGAGTGACACATGTC TGGGCAAAGACAATCGACTTCTGGAACATAACAGATCAGTGTTATCAGGTGACGACAGTACAGGAAGTGAGCCGCCACTATCACCCCCAG AAAGGCTCCCCATCAGACGCTCTAGTACCAGAGACAAAAACAGAAGAGGGGAAACATGTTTCCTACTGACGACAGGTGATTACACGTGTG CTTCTGATGGAGGGATCAGGAAAGATAACTGCAAAGAGGTTGTCATTACTGGTTACACGCAAGCCGAGGCCAGATCTCTTACTTAATGAC TTGGGGAAGGCACAAAACATGAGAGAAAGTGTTGTACAGAATTTATCATGGATTATTGACTGCTGAGAAAGGGACAGTGGAATTTAGCCA TACCAAGGACTATACTGGAAACAGACTTCTGCTGCTGAATGTGCCCTGATGTGACCAGGTTGCACTTGGAAGAGATCCTCGCGTCTTCAT GAGGCACTTAAAGCTTATAAAAGAACTGCGGCTGGAACTCATCTGGTGCTCCCCATGAGAGTGCTCTGCTTGTAGACTGGCCAGTGTCCA TGAAACAACTGTAAATACCAACATGTGTGCATGGGTCAACAGTCTTGGCCATTTCTCATCAAAAGAAGCCAAATTCATGATCAACATCTC TGAAGTTTCAAGTAAGGCCCACACTTCTTTGAATTACTCTTCATGGGCCCACATTAGGTTGTGCTGTGAATTACTTAAGGCAGTGATACT GATGTAGTATAGTTTTGTCTTAATTTCCCTTATTTCTACTTCTTTGGTTGAATCTATGAACTTGATTGTATAATTTTCTTATAAATTACT GATGTAATCAGCTTGTCAATTATGTTGTGAAATTGTTAGTATTCATTTATCAAAAATGACCTATGTTTAGTCACATATTTGTTTAGTTCT GGGAAATTGTTATAGCTTAAATGGAACTCACCAACATTATTCATAGTTTAAGTCTTTTATCATTATTACCTCAATTATAAATATTACAAA AACATAATTCTGGCAATGAGAGTATTTTTTTATTCAATGATCAAGGAGCAATGTCAGTATATAGTAGAATATCAATTAAATTATATCCTA AAATGTATATTTTGCATAAAAGAGATATTCTTTAATCAATTACTTTTTTGTGAGTTTTGTGGCAAATGAAGCTTGTACGTGTCTTTAAAA CTGTTGTAGATGAAACTGTATAAGATTTTTACATCTTGCTTAATCAATATTTTCAGAGTCTATTAGTTCCCCTGGGATTCTGAATATAAC ATATAGCCTATTATAAATCCCTGTATCGTGGACCTTTTGTGAACATTTCAAGGCGCATGCACAACCTTGATGATAACCAGTGGAAATGTA >In-frame_ENST00000308330_ENST00000548513_TCGA-DX-AB2F-01A_LEMD3_chr12_65612399_+_KCNC2_chr12_75445097_length(amino acids)=949AA_start in transcript=26_stop in transcript=2875 MAAAAASAPQQLSDEELFSQLRRYGLSPGPVTESTRPVYLKKLKKLREEEQQQHRSGGRGNKTRNSNNNNTAAATVAAAGPAAAAAAGMG VRPVSGDLSYLRTPGGLCRISASGPESLLGGPGGASAAPAAGSKVLLGFSSDESDVEASPRDQAGGGGRKDRASLQYRGLKAPPAPLAAS EVTNSNSAERRKPHSWWGARRPAGPELQTPPGKDGAVEDEEGEGEDGEERDPETEEPLWASRTVNGSRLVPYSCRENYSDSEEEDDDDVA SSRQVLKDDSLSRHRPRRTHSKPLPPLTAKSAGGRLETSVQGGGGLAMNDRAAAAGSLDRSRNLEEAAAAEQGGGCDQVDSSPVPRYRVN AKKLTPLLPPPLTDMDSTLDSSTGSLLKTNNHIGGGAFSVDSPRIYSNSLPPSAAVAASSSLRINHANHTGSNHTYLKNTYNKPKLSEPE EELLQQFKREEVSPTGSFSAHYLSMFLLTAACLFFLILGLTYLGMRGTGVSEDGELSIENPFGETFGKIQESEKTLMMNTLYKLHDRLAQ LAGDHECGSSSQRTLSVQEAAAYLKFIAFASLFFILVSITTFCLETHEAFNIVKNKTEPVINGTSVVLQYEIETDPALTYVEGVCVVWFT FEFLVRIVFSPNKLEFIKNLLNIIDFVAILPFYLEVGLSGLSSKAAKDVLGFLRVVRFVRILRIFKLTRHFVGLRVLGHTLRASTNEFLL LIIFLALGVLIFATMIYYAERVGAQPNDPSASEHTQFKNIPIGFWWAVVTMTTLGYGDMYPQTWSGMLVGALCALAGVLTIAMPVPVIVN NFGMYYSLAMAKQKLPRKRKKHIPPAPQASSPTFCKTELNMACNSTQSDTCLGKDNRLLEHNRSVLSGDDSTGSEPPLSPPERLPIRRSS -------------------------------------------------------------- >In-frame_ENST00000308330_ENST00000549446_TCGA-DX-AB2F-01A_LEMD3_chr12_65612399_+_KCNC2_chr12_75445097_length(transcript)=5978nt_BP=1721nt AGCTTGTAAAACACCCTGGAGAGAAAATGGCGGCGGCAGCAGCTTCGGCGCCTCAGCAGCTCTCGGATGAGGAGCTTTTCTCTCAGCTCC GCCGTTACGGCCTGTCTCCCGGACCAGTGACGGAGAGCACCCGCCCGGTCTACCTCAAGAAGCTGAAGAAGCTTCGAGAGGAAGAGCAGC AACAGCACCGGTCAGGGGGCCGCGGCAACAAGACGCGGAACAGTAATAACAATAACACGGCAGCCGCCACGGTCGCAGCCGCGGGACCAG CGGCGGCGGCGGCCGCGGGGATGGGGGTCCGGCCGGTCTCGGGCGACCTCTCCTACTTACGGACTCCTGGGGGCCTGTGCCGAATCTCGG CCTCTGGCCCAGAGAGCCTCCTGGGAGGGCCCGGGGGCGCCTCCGCCGCCCCCGCGGCTGGCAGCAAAGTGCTGCTGGGCTTCAGCTCGG ACGAGTCGGACGTGGAGGCCAGTCCCCGGGACCAGGCCGGCGGCGGCGGGAGGAAAGACCGGGCTTCGCTCCAGTACCGCGGGCTCAAAG CGCCGCCGGCGCCCCTGGCCGCCAGCGAGGTGACTAACAGCAACTCTGCAGAGCGAAGGAAGCCCCACTCGTGGTGGGGGGCCAGGAGGC CGGCGGGCCCCGAGCTGCAGACCCCGCCGGGGAAAGATGGAGCAGTGGAGGACGAGGAAGGGGAGGGAGAGGACGGTGAGGAGAGGGACC CGGAGACCGAGGAGCCGCTCTGGGCGAGCCGGACCGTGAATGGCAGCCGGCTTGTCCCCTACAGCTGCCGGGAAAACTATTCGGACTCAG AGGAAGAGGACGACGACGACGTGGCCTCCAGCAGACAGGTATTAAAGGACGACTCCCTTTCCCGGCATCGGCCCAGACGAACCCATAGTA AGCCTCTCCCCCCGCTGACTGCTAAATCGGCCGGCGGCAGGCTGGAGACTTCAGTTCAGGGAGGGGGAGGACTCGCGATGAATGACAGGG CGGCGGCTGCCGGGAGTCTAGACAGGAGCCGAAACCTCGAAGAGGCGGCGGCCGCGGAGCAGGGAGGAGGGTGTGATCAAGTGGACTCCA GCCCCGTTCCTAGATACCGTGTTAACGCTAAGAAACTGACCCCTCTCCTGCCCCCGCCACTTACTGACATGGACTCAACCTTGGATTCGT CAACAGGCTCCCTTCTGAAAACCAATAATCATATTGGCGGTGGGGCCTTCAGTGTGGACTCCCCCAGGATTTATTCTAACAGTCTCCCTC CCAGTGCGGCGGTGGCCGCCTCTAGTTCACTCAGGATCAATCACGCCAATCATACGGGCTCCAATCATACCTACCTGAAAAACACATACA ACAAACCGAAGCTTTCCGAACCCGAAGAGGAACTTCTCCAGCAATTTAAACGGGAGGAGGTGTCCCCAACAGGGAGTTTCAGTGCCCACT ACTTGTCGATGTTTCTCTTAACTGCTGCCTGCTTATTTTTCCTAATACTGGGACTGACTTACCTAGGAATGAGAGGGACAGGAGTATCTG AGGATGGAGAACTCAGCATAGAAAACCCCTTTGGTGAAACATTTGGAAAAATACAAGAAAGTGAAAAAACTCTTATGATGAACACATTAT ATAAGCTTCATGATCGATTGGCACAGCTTGCAGGAGATCATGAATGTGGCAGTTCTAGTCAAAGAACGCTTTCTGTTCAAGAGGCAGCTG CGTATTTAAAATTTATTGCTTTTGCTTCTTTATTCTTCATCCTGGTTTCAATTACAACTTTTTGCCTGGAAACACATGAAGCTTTCAATA TTGTTAAAAACAAGACAGAACCAGTCATCAATGGCACAAGTGTTGTTCTACAGTATGAAATTGAAACGGATCCTGCCTTGACGTATGTAG AAGGAGTGTGTGTGGTGTGGTTTACTTTTGAATTTTTAGTCCGTATTGTTTTTTCACCCAATAAACTTGAATTCATCAAAAATCTCTTGA ATATCATTGACTTTGTGGCCATCCTACCTTTCTACTTAGAGGTGGGACTCAGTGGGCTGTCATCCAAAGCTGCTAAAGATGTGCTTGGCT TCCTCAGGGTGGTAAGGTTTGTGAGGATCCTGAGAATTTTCAAGCTCACCCGCCATTTTGTAGGTCTGAGGGTGCTTGGACATACTCTTC GAGCTAGTACTAATGAATTTTTGCTGCTGATAATTTTCCTGGCTCTAGGAGTTTTGATATTTGCTACCATGATCTACTATGCCGAGAGAG TGGGAGCTCAACCTAACGACCCTTCAGCTAGTGAGCACACACAGTTCAAAAACATTCCCATTGGGTTCTGGTGGGCTGTAGTGACCATGA CTACCCTGGGTTATGGGGATATGTACCCCCAAACATGGTCAGGCATGCTGGTGGGAGCCCTGTGTGCTCTGGCTGGAGTGCTGACAATAG CCATGCCAGTGCCTGTCATTGTCAATAATTTTGGAATGTACTACTCCTTGGCAATGGCAAAGCAGAAACTTCCAAGGAAAAGAAAGAAGC ACATCCCTCCTGCTCCTCAGGCAAGCTCACCTACTTTTTGCAAGACAGAATTAAATATGGCCTGCAATAGTACACAGAGTGACACATGTC TGGGCAAAGACAATCGACTTCTGGAACATAACAGATCAGTGTTATCAGGTGACGACAGTACAGGAAGTGAGCCGCCACTATCACCCCCAG AAAGGCTCCCCATCAGACGCTCTAGTACCAGAGACAAAAACAGAAGAGGGGAAACATGTTTCCTACTGACGACAGGTGATTACACGTGTG CTTCTGATGGAGGGATCAGGAAAGGATATGAAAAATCCCGAAGCTTAAACAACATAGCGGGCTTGGCAGGCAATGCTCTGAGGCTCTCTC CAGTAACATCACCCTACAACTCTCCTTGTCCTCTGAGGCGCTCTCGATCTCCCATCCCATCTATCTTGTAAACCAAACAACCAAACTGCA TCAGTCGGCTAAATTGTATTAATTCAAGTGCTGTTTACCCCATAATGGAAATAATTAAATGTAGAGTTACTCCAGGCTCCATTAATACAG TATAAATCTTGCATGATACTACAATTTGAAGTCAGAAATGCCACTTGGGTAGCTAATGAATCTTACCCAGGCTTTAAAGATTGTCTAAAG TAGTGCTAAGATCCCTCCTATTAATTGCCCTGATATCCTTTTGCAATAAAATGACAGATAGTGTCAGATATTGACCAGTGCACTAATATA TAAACATACCTTCAGGGAGATATATTTAAAACAGTGTGCTTCCAAATGCCAACCACTTCATTGGAACTTTATTTCTTGTGACTGTAAACC ATTCTGAAGATGTCTGGGATCCTATCTTGATTGCACACGACATGACTTGTGTCAGCTCATTTGCATGGACCATCTTGTCTCTATCACCTG AAAGCAATGTTGCAGAGTTCGGGGACTGTGGATAGCTCAGGATATGTGTACTTGCATCGAACCATCCTGCTGATATGAAAGCATTGGTCG ACTGTTCTGCATGTTGAATTGTGGGGCAGGGAGGGCACTTTTCTCCTTGACATTTTTTTCTTATTATTTGAAAGAAATATATGTTTTAAA TAGTTTAATTTCTTGATTGATTTACTTTTCTTCAAAAATGCTGTATTGGAGTTCTGAATGTCTCTGGTTGTTTGCACACAGATAACTGCA AAGAGGTTGTCATTACTGGTTACACGCAAGCCGAGGCCAGATCTCTTACTTAATGACTTGGGGAAGGCACAAAACATGAGAGAAAGGTAA CTGCCAGCCAGGCTTGCATTGTTTAGCCAGAAATTGCTGCTTGGTTCTAGACTCTTTAAAAAAAAAAAATACCCAGGGTTTGTCATCATT TTCAGAGGCAGAGTGCCAAATATCACCCAAAGCTCTTGTGTCTTTTTTTTACCCCCTTATTTTATTTTTATTTATTAATTTTTTGTGCAA ACATCAAATGTCACTGGTGTTCACAGAAGGCTTTTTTGACTAGCCTTAAATTCCTGAGTCAAAAGATTAATCAGATTTTCAGGCAGTGTT TAATCAGGTGCTTTGTCCTGTATGTTGTTCTTGTCTGTCTTAGCTCCCTGTCTTTCCTGTATATGCCATCTGTCTCCATGAAGCACAGAA ATGCCTCTGTAAGATGTTTATGATTTTAATATTTACTCCCTCCAAACCCGACTCCATACCATTTTTTGCTATTTGGAGCAGCCTCTCTGC TTTGTGTATAAATTAATGATGCTCTGTAGACTACCTAAGTTAATCGGCACTGTGAATCTTTTTGATAAGCAGGGTTTAAGCAGCAATTTC ACCATTGCACTTGGTTGCCTGCTGCAGTGTCAGTTTCTACTACCTAGCAACCAGCATTCATTACTACACTCCAACAAAATCCTTAGGGAG TCATATTCAGTCTGAGTGGAAGAAAGTCTATTTATGCATTCCTATGAATTCAACAGCAATAGCGTGTCTCATGTATTGAGCATGTGAGGG AAGAAAAAGACCGTAATATAAATAGAGGGATAAATAATATCACTAAGGCATTTGGGAGCCTTGAGACTGCTGATTAATTCCTATTTCTCA TGTTTATTTTTTGTTAGGAAGACAATTGTCACTTTTATTATTGGCCACGAAACATGTATTACTCTATATCCCCAAGTCCTAGAGCATGAC CTGCATGTTGGAGATGTTGTACAGCAATGTATTTATCCAGACATACATATATGATATTTAGAGACACAGTGATTCTTTTGATAACACCAC ACATAGAACATTATAATTACACACAAATTTATGGTAAAAGAATTAATATGCTGTCTGGTGCTGCTGTTATTGACTACAGTGTTGTACAGA ATTTATCATGGATTATTGACTGCTGAGAAAGGGACAGTGGAATTTAGCCATACCAAGGACTATACTGGAAACAGACTTCTGCTGCTGAAT GTGCCCTGATGTGACCAGGTTGCACTTGGAAGAGATCCTCGCGTCTTCATGAGGCACTTAAAGCTTATAAAAGAACTGCGGCTGGAACTC ATCTGGTGCTCCCCATGAGAGTGCTCTGCTTGTAGACTGGCCAGTGTCCATGAAACAACTGTAAATACCAACATGTGTGCATGGGTCAAC AGTCTTGGCCATTTCTCATCAAAAGAAGCCAAATTCATGATCAACATCTCTGAAGTTTCAAGTAAGGCCCACACTTCTTTGAATTACTCT TCATGGGCCCACATTAGGTTGTGCTGTGAATTACTTAAGGCAGTGATACTGATGTAGTATAGTTTTGTCTTAATTTCCCTTATTTCTACT TCTTTGGTTGAATCTATGAACTTGATTGTATAATTTTCTTATAAATTACTGATGTAATCAGCTTGTCAATTATGTTGTGAAATTGTTAGT ATTCATTTATCAAAAATGACCTATGTTTAGTCACATATTTGTTTAGTTCTGGGAAATTGTTATAGCTTAAATGGAACTCACCAACATTAT TCATAGTTTAAGTCTTTTATCATTATTACCTCAATTATAAATATTACAAAAACATAATTCTGGCAATGAGAGTATTTTTTTATTCAATGA TCAAGGAGCAATGTCAGTATATAGTAGAATATCAATTAAATTATATCCTAAAATGTATATTTTGCATAAAAGAGATATTCTTTAATCAAT TACTTTTTTGTGAGTTTTGTGGCAAATGAAGCTTGTACGTGTCTTTAAAACTGTTGTAGATGAAACTGTATAAGATTTTTACATCTTGCT TAATCAATATTTTCAGAGTCTATTAGTTCCCCTGGGATTCTGAATATAACATATAGCCTATTATAAATCCCTGTATCGTGGACCTTTTGT GAACATTTCAAGGCGCATGCACAACCTTGATGATAACCAGTGGAAATGTAACTAACTGAAATGAAGAATAAAAGGCAAATGAGCTGGGGA >In-frame_ENST00000308330_ENST00000549446_TCGA-DX-AB2F-01A_LEMD3_chr12_65612399_+_KCNC2_chr12_75445097_length(amino acids)=974AA_start in transcript=26_stop in transcript=2950 MAAAAASAPQQLSDEELFSQLRRYGLSPGPVTESTRPVYLKKLKKLREEEQQQHRSGGRGNKTRNSNNNNTAAATVAAAGPAAAAAAGMG VRPVSGDLSYLRTPGGLCRISASGPESLLGGPGGASAAPAAGSKVLLGFSSDESDVEASPRDQAGGGGRKDRASLQYRGLKAPPAPLAAS EVTNSNSAERRKPHSWWGARRPAGPELQTPPGKDGAVEDEEGEGEDGEERDPETEEPLWASRTVNGSRLVPYSCRENYSDSEEEDDDDVA SSRQVLKDDSLSRHRPRRTHSKPLPPLTAKSAGGRLETSVQGGGGLAMNDRAAAAGSLDRSRNLEEAAAAEQGGGCDQVDSSPVPRYRVN AKKLTPLLPPPLTDMDSTLDSSTGSLLKTNNHIGGGAFSVDSPRIYSNSLPPSAAVAASSSLRINHANHTGSNHTYLKNTYNKPKLSEPE EELLQQFKREEVSPTGSFSAHYLSMFLLTAACLFFLILGLTYLGMRGTGVSEDGELSIENPFGETFGKIQESEKTLMMNTLYKLHDRLAQ LAGDHECGSSSQRTLSVQEAAAYLKFIAFASLFFILVSITTFCLETHEAFNIVKNKTEPVINGTSVVLQYEIETDPALTYVEGVCVVWFT FEFLVRIVFSPNKLEFIKNLLNIIDFVAILPFYLEVGLSGLSSKAAKDVLGFLRVVRFVRILRIFKLTRHFVGLRVLGHTLRASTNEFLL LIIFLALGVLIFATMIYYAERVGAQPNDPSASEHTQFKNIPIGFWWAVVTMTTLGYGDMYPQTWSGMLVGALCALAGVLTIAMPVPVIVN NFGMYYSLAMAKQKLPRKRKKHIPPAPQASSPTFCKTELNMACNSTQSDTCLGKDNRLLEHNRSVLSGDDSTGSEPPLSPPERLPIRRSS -------------------------------------------------------------- >In-frame_ENST00000308330_ENST00000298972_TCGA-DX-AB2F-01A_LEMD3_chr12_65612399_+_KCNC2_chr12_75445097_length(transcript)=4000nt_BP=1721nt AGCTTGTAAAACACCCTGGAGAGAAAATGGCGGCGGCAGCAGCTTCGGCGCCTCAGCAGCTCTCGGATGAGGAGCTTTTCTCTCAGCTCC GCCGTTACGGCCTGTCTCCCGGACCAGTGACGGAGAGCACCCGCCCGGTCTACCTCAAGAAGCTGAAGAAGCTTCGAGAGGAAGAGCAGC AACAGCACCGGTCAGGGGGCCGCGGCAACAAGACGCGGAACAGTAATAACAATAACACGGCAGCCGCCACGGTCGCAGCCGCGGGACCAG CGGCGGCGGCGGCCGCGGGGATGGGGGTCCGGCCGGTCTCGGGCGACCTCTCCTACTTACGGACTCCTGGGGGCCTGTGCCGAATCTCGG CCTCTGGCCCAGAGAGCCTCCTGGGAGGGCCCGGGGGCGCCTCCGCCGCCCCCGCGGCTGGCAGCAAAGTGCTGCTGGGCTTCAGCTCGG ACGAGTCGGACGTGGAGGCCAGTCCCCGGGACCAGGCCGGCGGCGGCGGGAGGAAAGACCGGGCTTCGCTCCAGTACCGCGGGCTCAAAG CGCCGCCGGCGCCCCTGGCCGCCAGCGAGGTGACTAACAGCAACTCTGCAGAGCGAAGGAAGCCCCACTCGTGGTGGGGGGCCAGGAGGC CGGCGGGCCCCGAGCTGCAGACCCCGCCGGGGAAAGATGGAGCAGTGGAGGACGAGGAAGGGGAGGGAGAGGACGGTGAGGAGAGGGACC CGGAGACCGAGGAGCCGCTCTGGGCGAGCCGGACCGTGAATGGCAGCCGGCTTGTCCCCTACAGCTGCCGGGAAAACTATTCGGACTCAG AGGAAGAGGACGACGACGACGTGGCCTCCAGCAGACAGGTATTAAAGGACGACTCCCTTTCCCGGCATCGGCCCAGACGAACCCATAGTA AGCCTCTCCCCCCGCTGACTGCTAAATCGGCCGGCGGCAGGCTGGAGACTTCAGTTCAGGGAGGGGGAGGACTCGCGATGAATGACAGGG CGGCGGCTGCCGGGAGTCTAGACAGGAGCCGAAACCTCGAAGAGGCGGCGGCCGCGGAGCAGGGAGGAGGGTGTGATCAAGTGGACTCCA GCCCCGTTCCTAGATACCGTGTTAACGCTAAGAAACTGACCCCTCTCCTGCCCCCGCCACTTACTGACATGGACTCAACCTTGGATTCGT CAACAGGCTCCCTTCTGAAAACCAATAATCATATTGGCGGTGGGGCCTTCAGTGTGGACTCCCCCAGGATTTATTCTAACAGTCTCCCTC CCAGTGCGGCGGTGGCCGCCTCTAGTTCACTCAGGATCAATCACGCCAATCATACGGGCTCCAATCATACCTACCTGAAAAACACATACA ACAAACCGAAGCTTTCCGAACCCGAAGAGGAACTTCTCCAGCAATTTAAACGGGAGGAGGTGTCCCCAACAGGGAGTTTCAGTGCCCACT ACTTGTCGATGTTTCTCTTAACTGCTGCCTGCTTATTTTTCCTAATACTGGGACTGACTTACCTAGGAATGAGAGGGACAGGAGTATCTG AGGATGGAGAACTCAGCATAGAAAACCCCTTTGGTGAAACATTTGGAAAAATACAAGAAAGTGAAAAAACTCTTATGATGAACACATTAT ATAAGCTTCATGATCGATTGGCACAGCTTGCAGGAGATCATGAATGTGGCAGTTCTAGTCAAAGAACGCTTTCTGTTCAAGAGGCAGCTG CGTATTTAAAATTTATTGCTTTTGCTTCTTTATTCTTCATCCTGGTTTCAATTACAACTTTTTGCCTGGAAACACATGAAGCTTTCAATA TTGTTAAAAACAAGACAGAACCAGTCATCAATGGCACAAGTGTTGTTCTACAGTATGAAATTGAAACGGATCCTGCCTTGACGTATGTAG AAGGAGTGTGTGTGGTGTGGTTTACTTTTGAATTTTTAGTCCGTATTGTTTTTTCACCCAATAAACTTGAATTCATCAAAAATCTCTTGA ATATCATTGACTTTGTGGCCATCCTACCTTTCTACTTAGAGGTGGGACTCAGTGGGCTGTCATCCAAAGCTGCTAAAGATGTGCTTGGCT TCCTCAGGGTGGTAAGGTTTGTGAGGATCCTGAGAATTTTCAAGCTCACCCGCCATTTTGTAGGTCTGAGGGTGCTTGGACATACTCTTC GAGCTAGTACTAATGAATTTTTGCTGCTGATAATTTTCCTGGCTCTAGGAGTTTTGATATTTGCTACCATGATCTACTATGCCGAGAGAG TGGGAGCTCAACCTAACGACCCTTCAGCTAGTGAGCACACACAGTTCAAAAACATTCCCATTGGGTTCTGGTGGGCTGTAGTGACCATGA CTACCCTGGGTTATGGGGATATGTACCCCCAAACATGGTCAGGCATGCTGGTGGGAGCCCTGTGTGCTCTGGCTGGAGTGCTGACAATAG CCATGCCAGTGCCTGTCATTGTCAATAATTTTGGAATGTACTACTCCTTGGCAATGGCAAAGCAGAAACTTCCAAGGAAAAGAAAGAAGC ACATCCCTCCTGCTCCTCAGGCAAGCTCACCTACTTTTTGCAAGACAGAATTAAATATGGCCTGCAATAGTACACAGAGTGACACATGTC TGGGCAAAGACAATCGACTTCTGGAACATAACAGATCAGTGTTATCAGGTGACGACAGTACAGGAAGTGAGCCGCCACTATCACCCCCAG AAAGGCTCCCCATCAGACGCTCTAGTACCAGAGACAAAAACAGAAGAGGGGAAACATGTTTCCTACTGACGACAGGTGATTACACGTGTG CTTCTGATGGAGGGATCAGGAAAGATAACTGCAAAGAGGTTGTCATTACTGGTTACACGCAAGCCGAGGCCAGATCTCTTACTTAATGAC TTGGGGAAGGCACAAAACATGAGAGAAAGTGTTGTACAGAATTTATCATGGATTATTGACTGCTGAGAAAGGGACAGTGGAATTTAGCCA TACCAAGGACTATACTGGAAACAGACTTCTGCTGCTGAATGTGCCCTGATGTGACCAGGTTGCACTTGGAAGAGATCCTCGCGTCTTCAT GAGGCACTTAAAGCTTATAAAAGAACTGCGGCTGGAACTCATCTGGTGCTCCCCATGAGAGTGCTCTGCTTGTAGACTGGCCAGTGTCCA TGAAACAACTGTAAATACCAACATGTGTGCATGGGTCAACAGTCTTGGCCATTTCTCATCAAAAGAAGCCAAATTCATGATCAACATCTC TGAAGTTTCAAGTAAGGCCCACACTTCTTTGAATTACTCTTCATGGGCCCACATTAGGTTGTGCTGTGAATTACTTAAGGCAGTGATACT GATGTAGTATAGTTTTGTCTTAATTTCCCTTATTTCTACTTCTTTGGTTGAATCTATGAACTTGATTGTATAATTTTCTTATAAATTACT GATGTAATCAGCTTGTCAATTATGTTGTGAAATTGTTAGTATTCATTTATCAAAAATGACCTATGTTTAGTCACATATTTGTTTAGTTCT GGGAAATTGTTATAGCTTAAATGGAACTCACCAACATTATTCATAGTTTAAGTCTTTTATCATTATTACCTCAATTATAAATATTACAAA AACATAATTCTGGCAATGAGAGTATTTTTTTATTCAATGATCAAGGAGCAATGTCAGTATATAGTAGAATATCAATTAAATTATATCCTA AAATGTATATTTTGCATAAAAGAGATATTCTTTAATCAATTACTTTTTTGTGAGTTTTGTGGCAAATGAAGCTTGTACGTGTCTTTAAAA CTGTTGTAGATGAAACTGTATAAGATTTTTACATCTTGCTTAATCAATATTTTCAGAGTCTATTAGTTCCCCTGGGATTCTGAATATAAC ATATAGCCTATTATAAATCCCTGTATCGTGGACCTTTTGTGAACATTTCAAGGCGCATGCACAACCTTGATGATAACCAGTGGAAATGTA >In-frame_ENST00000308330_ENST00000298972_TCGA-DX-AB2F-01A_LEMD3_chr12_65612399_+_KCNC2_chr12_75445097_length(amino acids)=949AA_start in transcript=26_stop in transcript=2875 MAAAAASAPQQLSDEELFSQLRRYGLSPGPVTESTRPVYLKKLKKLREEEQQQHRSGGRGNKTRNSNNNNTAAATVAAAGPAAAAAAGMG VRPVSGDLSYLRTPGGLCRISASGPESLLGGPGGASAAPAAGSKVLLGFSSDESDVEASPRDQAGGGGRKDRASLQYRGLKAPPAPLAAS EVTNSNSAERRKPHSWWGARRPAGPELQTPPGKDGAVEDEEGEGEDGEERDPETEEPLWASRTVNGSRLVPYSCRENYSDSEEEDDDDVA SSRQVLKDDSLSRHRPRRTHSKPLPPLTAKSAGGRLETSVQGGGGLAMNDRAAAAGSLDRSRNLEEAAAAEQGGGCDQVDSSPVPRYRVN AKKLTPLLPPPLTDMDSTLDSSTGSLLKTNNHIGGGAFSVDSPRIYSNSLPPSAAVAASSSLRINHANHTGSNHTYLKNTYNKPKLSEPE EELLQQFKREEVSPTGSFSAHYLSMFLLTAACLFFLILGLTYLGMRGTGVSEDGELSIENPFGETFGKIQESEKTLMMNTLYKLHDRLAQ LAGDHECGSSSQRTLSVQEAAAYLKFIAFASLFFILVSITTFCLETHEAFNIVKNKTEPVINGTSVVLQYEIETDPALTYVEGVCVVWFT FEFLVRIVFSPNKLEFIKNLLNIIDFVAILPFYLEVGLSGLSSKAAKDVLGFLRVVRFVRILRIFKLTRHFVGLRVLGHTLRASTNEFLL LIIFLALGVLIFATMIYYAERVGAQPNDPSASEHTQFKNIPIGFWWAVVTMTTLGYGDMYPQTWSGMLVGALCALAGVLTIAMPVPVIVN NFGMYYSLAMAKQKLPRKRKKHIPPAPQASSPTFCKTELNMACNSTQSDTCLGKDNRLLEHNRSVLSGDDSTGSEPPLSPPERLPIRRSS -------------------------------------------------------------- >In-frame_ENST00000308330_ENST00000341669_TCGA-DX-AB2F-01A_LEMD3_chr12_65612399_+_KCNC2_chr12_75445097_length(transcript)=3905nt_BP=1721nt AGCTTGTAAAACACCCTGGAGAGAAAATGGCGGCGGCAGCAGCTTCGGCGCCTCAGCAGCTCTCGGATGAGGAGCTTTTCTCTCAGCTCC GCCGTTACGGCCTGTCTCCCGGACCAGTGACGGAGAGCACCCGCCCGGTCTACCTCAAGAAGCTGAAGAAGCTTCGAGAGGAAGAGCAGC AACAGCACCGGTCAGGGGGCCGCGGCAACAAGACGCGGAACAGTAATAACAATAACACGGCAGCCGCCACGGTCGCAGCCGCGGGACCAG CGGCGGCGGCGGCCGCGGGGATGGGGGTCCGGCCGGTCTCGGGCGACCTCTCCTACTTACGGACTCCTGGGGGCCTGTGCCGAATCTCGG CCTCTGGCCCAGAGAGCCTCCTGGGAGGGCCCGGGGGCGCCTCCGCCGCCCCCGCGGCTGGCAGCAAAGTGCTGCTGGGCTTCAGCTCGG ACGAGTCGGACGTGGAGGCCAGTCCCCGGGACCAGGCCGGCGGCGGCGGGAGGAAAGACCGGGCTTCGCTCCAGTACCGCGGGCTCAAAG CGCCGCCGGCGCCCCTGGCCGCCAGCGAGGTGACTAACAGCAACTCTGCAGAGCGAAGGAAGCCCCACTCGTGGTGGGGGGCCAGGAGGC CGGCGGGCCCCGAGCTGCAGACCCCGCCGGGGAAAGATGGAGCAGTGGAGGACGAGGAAGGGGAGGGAGAGGACGGTGAGGAGAGGGACC CGGAGACCGAGGAGCCGCTCTGGGCGAGCCGGACCGTGAATGGCAGCCGGCTTGTCCCCTACAGCTGCCGGGAAAACTATTCGGACTCAG AGGAAGAGGACGACGACGACGTGGCCTCCAGCAGACAGGTATTAAAGGACGACTCCCTTTCCCGGCATCGGCCCAGACGAACCCATAGTA AGCCTCTCCCCCCGCTGACTGCTAAATCGGCCGGCGGCAGGCTGGAGACTTCAGTTCAGGGAGGGGGAGGACTCGCGATGAATGACAGGG CGGCGGCTGCCGGGAGTCTAGACAGGAGCCGAAACCTCGAAGAGGCGGCGGCCGCGGAGCAGGGAGGAGGGTGTGATCAAGTGGACTCCA GCCCCGTTCCTAGATACCGTGTTAACGCTAAGAAACTGACCCCTCTCCTGCCCCCGCCACTTACTGACATGGACTCAACCTTGGATTCGT CAACAGGCTCCCTTCTGAAAACCAATAATCATATTGGCGGTGGGGCCTTCAGTGTGGACTCCCCCAGGATTTATTCTAACAGTCTCCCTC CCAGTGCGGCGGTGGCCGCCTCTAGTTCACTCAGGATCAATCACGCCAATCATACGGGCTCCAATCATACCTACCTGAAAAACACATACA ACAAACCGAAGCTTTCCGAACCCGAAGAGGAACTTCTCCAGCAATTTAAACGGGAGGAGGTGTCCCCAACAGGGAGTTTCAGTGCCCACT ACTTGTCGATGTTTCTCTTAACTGCTGCCTGCTTATTTTTCCTAATACTGGGACTGACTTACCTAGGAATGAGAGGGACAGGAGTATCTG AGGATGGAGAACTCAGCATAGAAAACCCCTTTGGTGAAACATTTGGAAAAATACAAGAAAGTGAAAAAACTCTTATGATGAACACATTAT ATAAGCTTCATGATCGATTGGCACAGCTTGCAGGAGATCATGAATGTGGCAGTTCTAGTCAAAGAACGCTTTCTGTTCAAGAGGCAGCTG CGTATTTAAAATTTATTGCTTTTGCTTCTTTATTCTTCATCCTGGTTTCAATTACAACTTTTTGCCTGGAAACACATGAAGCTTTCAATA TTGTTAAAAACAAGACAGAACCAGTCATCAATGGCACAAGTGTTGTTCTACAGTATGAAATTGAAACGGATCCTGCCTTGACGTATGTAG AAGGAGTGTGTGTGGTGTGGTTTACTTTTGAATTTTTAGTCCGTATTGTTTTTTCACCCAATAAACTTGAATTCATCAAAAATCTCTTGA ATATCATTGACTTTGTGGCCATCCTACCTTTCTACTTAGAGGTGGGACTCAGTGGGCTGTCATCCAAAGCTGCTAAAGATGTGCTTGGCT TCCTCAGGGTGGTAAGGTTTGTGAGGATCCTGAGAATTTTCAAGCTCACCCGCCATTTTGTAGGTCTGAGGGTGCTTGGACATACTCTTC GAGCTAGTACTAATGAATTTTTGCTGCTGATAATTTTCCTGGCTCTAGGAGTTTTGATATTTGCTACCATGATCTACTATGCCGAGAGAG TGGGAGCTCAACCTAACGACCCTTCAGCTAGTGAGCACACACAGTTCAAAAACATTCCCATTGGGTTCTGGTGGGCTGTAGTGACCATGA CTACCCTGGGTTATGGGGATATGTACCCCCAAACATGGTCAGGCATGCTGGTGGGAGCCCTGTGTGCTCTGGCTGGAGTGCTGACAATAG CCATGCCAGTGCCTGTCATTGTCAATAATTTTGGAATGTACTACTCCTTGGCAATGGCAAAGCAGAAACTTCCAAGGAAAAGAAAGAAGC ACATCCCTCCTGCTCCTCAGGCAAGCTCACCTACTTTTTGCAAGACAGAATTAAATATGGCCTGCAATAGTACACAGAGTGACACATGTC TGGGCAAAGACAATCGACTTCTGGAACATAACAGATCAGTGTTATCAGGTGACGACAGTACAGGAAGTGAGCCGCCACTATCACCCCCAG AAAGGCTCCCCATCAGACGCTCTAGTACCAGAGACAAAAACAGAAGAGGGGAAACATGTTTCCTACTGACGACAGGTGATTACACGTGTG CTTCTGATGGAGGGATCAGGAAAGTGTTGTACAGAATTTATCATGGATTATTGACTGCTGAGAAAGGGACAGTGGAATTTAGCCATACCA AGGACTATACTGGAAACAGACTTCTGCTGCTGAATGTGCCCTGATGTGACCAGGTTGCACTTGGAAGAGATCCTCGCGTCTTCATGAGGC ACTTAAAGCTTATAAAAGAACTGCGGCTGGAACTCATCTGGTGCTCCCCATGAGAGTGCTCTGCTTGTAGACTGGCCAGTGTCCATGAAA CAACTGTAAATACCAACATGTGTGCATGGGTCAACAGTCTTGGCCATTTCTCATCAAAAGAAGCCAAATTCATGATCAACATCTCTGAAG TTTCAAGTAAGGCCCACACTTCTTTGAATTACTCTTCATGGGCCCACATTAGGTTGTGCTGTGAATTACTTAAGGCAGTGATACTGATGT AGTATAGTTTTGTCTTAATTTCCCTTATTTCTACTTCTTTGGTTGAATCTATGAACTTGATTGTATAATTTTCTTATAAATTACTGATGT AATCAGCTTGTCAATTATGTTGTGAAATTGTTAGTATTCATTTATCAAAAATGACCTATGTTTAGTCACATATTTGTTTAGTTCTGGGAA ATTGTTATAGCTTAAATGGAACTCACCAACATTATTCATAGTTTAAGTCTTTTATCATTATTACCTCAATTATAAATATTACAAAAACAT AATTCTGGCAATGAGAGTATTTTTTTATTCAATGATCAAGGAGCAATGTCAGTATATAGTAGAATATCAATTAAATTATATCCTAAAATG TATATTTTGCATAAAAGAGATATTCTTTAATCAATTACTTTTTTGTGAGTTTTGTGGCAAATGAAGCTTGTACGTGTCTTTAAAACTGTT GTAGATGAAACTGTATAAGATTTTTACATCTTGCTTAATCAATATTTTCAGAGTCTATTAGTTCCCCTGGGATTCTGAATATAACATATA GCCTATTATAAATCCCTGTATCGTGGACCTTTTGTGAACATTTCAAGGCGCATGCACAACCTTGATGATAACCAGTGGAAATGTAACTAA >In-frame_ENST00000308330_ENST00000341669_TCGA-DX-AB2F-01A_LEMD3_chr12_65612399_+_KCNC2_chr12_75445097_length(amino acids)=965AA_start in transcript=26_stop in transcript=2923 MAAAAASAPQQLSDEELFSQLRRYGLSPGPVTESTRPVYLKKLKKLREEEQQQHRSGGRGNKTRNSNNNNTAAATVAAAGPAAAAAAGMG VRPVSGDLSYLRTPGGLCRISASGPESLLGGPGGASAAPAAGSKVLLGFSSDESDVEASPRDQAGGGGRKDRASLQYRGLKAPPAPLAAS EVTNSNSAERRKPHSWWGARRPAGPELQTPPGKDGAVEDEEGEGEDGEERDPETEEPLWASRTVNGSRLVPYSCRENYSDSEEEDDDDVA SSRQVLKDDSLSRHRPRRTHSKPLPPLTAKSAGGRLETSVQGGGGLAMNDRAAAAGSLDRSRNLEEAAAAEQGGGCDQVDSSPVPRYRVN AKKLTPLLPPPLTDMDSTLDSSTGSLLKTNNHIGGGAFSVDSPRIYSNSLPPSAAVAASSSLRINHANHTGSNHTYLKNTYNKPKLSEPE EELLQQFKREEVSPTGSFSAHYLSMFLLTAACLFFLILGLTYLGMRGTGVSEDGELSIENPFGETFGKIQESEKTLMMNTLYKLHDRLAQ LAGDHECGSSSQRTLSVQEAAAYLKFIAFASLFFILVSITTFCLETHEAFNIVKNKTEPVINGTSVVLQYEIETDPALTYVEGVCVVWFT FEFLVRIVFSPNKLEFIKNLLNIIDFVAILPFYLEVGLSGLSSKAAKDVLGFLRVVRFVRILRIFKLTRHFVGLRVLGHTLRASTNEFLL LIIFLALGVLIFATMIYYAERVGAQPNDPSASEHTQFKNIPIGFWWAVVTMTTLGYGDMYPQTWSGMLVGALCALAGVLTIAMPVPVIVN NFGMYYSLAMAKQKLPRKRKKHIPPAPQASSPTFCKTELNMACNSTQSDTCLGKDNRLLEHNRSVLSGDDSTGSEPPLSPPERLPIRRSS -------------------------------------------------------------- >In-frame_ENST00000308330_ENST00000350228_TCGA-DX-AB2F-01A_LEMD3_chr12_65612399_+_KCNC2_chr12_75445097_length(transcript)=3834nt_BP=1721nt AGCTTGTAAAACACCCTGGAGAGAAAATGGCGGCGGCAGCAGCTTCGGCGCCTCAGCAGCTCTCGGATGAGGAGCTTTTCTCTCAGCTCC GCCGTTACGGCCTGTCTCCCGGACCAGTGACGGAGAGCACCCGCCCGGTCTACCTCAAGAAGCTGAAGAAGCTTCGAGAGGAAGAGCAGC AACAGCACCGGTCAGGGGGCCGCGGCAACAAGACGCGGAACAGTAATAACAATAACACGGCAGCCGCCACGGTCGCAGCCGCGGGACCAG CGGCGGCGGCGGCCGCGGGGATGGGGGTCCGGCCGGTCTCGGGCGACCTCTCCTACTTACGGACTCCTGGGGGCCTGTGCCGAATCTCGG CCTCTGGCCCAGAGAGCCTCCTGGGAGGGCCCGGGGGCGCCTCCGCCGCCCCCGCGGCTGGCAGCAAAGTGCTGCTGGGCTTCAGCTCGG ACGAGTCGGACGTGGAGGCCAGTCCCCGGGACCAGGCCGGCGGCGGCGGGAGGAAAGACCGGGCTTCGCTCCAGTACCGCGGGCTCAAAG CGCCGCCGGCGCCCCTGGCCGCCAGCGAGGTGACTAACAGCAACTCTGCAGAGCGAAGGAAGCCCCACTCGTGGTGGGGGGCCAGGAGGC CGGCGGGCCCCGAGCTGCAGACCCCGCCGGGGAAAGATGGAGCAGTGGAGGACGAGGAAGGGGAGGGAGAGGACGGTGAGGAGAGGGACC CGGAGACCGAGGAGCCGCTCTGGGCGAGCCGGACCGTGAATGGCAGCCGGCTTGTCCCCTACAGCTGCCGGGAAAACTATTCGGACTCAG AGGAAGAGGACGACGACGACGTGGCCTCCAGCAGACAGGTATTAAAGGACGACTCCCTTTCCCGGCATCGGCCCAGACGAACCCATAGTA AGCCTCTCCCCCCGCTGACTGCTAAATCGGCCGGCGGCAGGCTGGAGACTTCAGTTCAGGGAGGGGGAGGACTCGCGATGAATGACAGGG CGGCGGCTGCCGGGAGTCTAGACAGGAGCCGAAACCTCGAAGAGGCGGCGGCCGCGGAGCAGGGAGGAGGGTGTGATCAAGTGGACTCCA GCCCCGTTCCTAGATACCGTGTTAACGCTAAGAAACTGACCCCTCTCCTGCCCCCGCCACTTACTGACATGGACTCAACCTTGGATTCGT CAACAGGCTCCCTTCTGAAAACCAATAATCATATTGGCGGTGGGGCCTTCAGTGTGGACTCCCCCAGGATTTATTCTAACAGTCTCCCTC CCAGTGCGGCGGTGGCCGCCTCTAGTTCACTCAGGATCAATCACGCCAATCATACGGGCTCCAATCATACCTACCTGAAAAACACATACA ACAAACCGAAGCTTTCCGAACCCGAAGAGGAACTTCTCCAGCAATTTAAACGGGAGGAGGTGTCCCCAACAGGGAGTTTCAGTGCCCACT ACTTGTCGATGTTTCTCTTAACTGCTGCCTGCTTATTTTTCCTAATACTGGGACTGACTTACCTAGGAATGAGAGGGACAGGAGTATCTG AGGATGGAGAACTCAGCATAGAAAACCCCTTTGGTGAAACATTTGGAAAAATACAAGAAAGTGAAAAAACTCTTATGATGAACACATTAT ATAAGCTTCATGATCGATTGGCACAGCTTGCAGGAGATCATGAATGTGGCAGTTCTAGTCAAAGAACGCTTTCTGTTCAAGAGGCAGCTG CGTATTTAAAATTTATTGCTTTTGCTTCTTTATTCTTCATCCTGGTTTCAATTACAACTTTTTGCCTGGAAACACATGAAGCTTTCAATA TTGTTAAAAACAAGACAGAACCAGTCATCAATGGCACAAGTGTTGTTCTACAGTATGAAATTGAAACGGATCCTGCCTTGACGTATGTAG AAGGAGTGTGTGTGGTGTGGTTTACTTTTGAATTTTTAGTCCGTATTGTTTTTTCACCCAATAAACTTGAATTCATCAAAAATCTCTTGA ATATCATTGACTTTGTGGCCATCCTACCTTTCTACTTAGAGGTGGGACTCAGTGGGCTGTCATCCAAAGCTGCTAAAGATGTGCTTGGCT TCCTCAGGGTGGTAAGGTTTGTGAGGATCCTGAGAATTTTCAAGCTCACCCGCCATTTTGTAGGTCTGAGGGTGCTTGGACATACTCTTC GAGCTAGTACTAATGAATTTTTGCTGCTGATAATTTTCCTGGCTCTAGGAGTTTTGATATTTGCTACCATGATCTACTATGCCGAGAGAG TGGGAGCTCAACCTAACGACCCTTCAGCTAGTGAGCACACACAGTTCAAAAACATTCCCATTGGGTTCTGGTGGGCTGTAGTGACCATGA CTACCCTGGGTTATGGGGATATGTACCCCCAAACATGGTCAGGCATGCTGGTGGGAGCCCTGTGTGCTCTGGCTGGAGTGCTGACAATAG CCATGCCAGTGCCTGTCATTGTCAATAATTTTGGAATGTACTACTCCTTGGCAATGGCAAAGCAGAAACTTCCAAGGAAAAGAAAGAAGC ACATCCCTCCTGCTCCTCAGGCAAGCTCACCTACTTTTTGCAAGACAGAATTAAATATGGCCTGCAATAGTACACAGAGTGACACATGTC TGGGCAAAGACAATCGACTTCTGGAACATAACAGATCAGATAACTGCAAAGAGGTTGTCATTACTGGTTACACGCAAGCCGAGGCCAGAT CTCTTACTTAATGACTTGGGGAAGGCACAAAACATGAGAGAAAGTGTTGTACAGAATTTATCATGGATTATTGACTGCTGAGAAAGGGAC AGTGGAATTTAGCCATACCAAGGACTATACTGGAAACAGACTTCTGCTGCTGAATGTGCCCTGATGTGACCAGGTTGCACTTGGAAGAGA TCCTCGCGTCTTCATGAGGCACTTAAAGCTTATAAAAGAACTGCGGCTGGAACTCATCTGGTGCTCCCCATGAGAGTGCTCTGCTTGTAG ACTGGCCAGTGTCCATGAAACAACTGTAAATACCAACATGTGTGCATGGGTCAACAGTCTTGGCCATTTCTCATCAAAAGAAGCCAAATT CATGATCAACATCTCTGAAGTTTCAAGTAAGGCCCACACTTCTTTGAATTACTCTTCATGGGCCCACATTAGGTTGTGCTGTGAATTACT TAAGGCAGTGATACTGATGTAGTATAGTTTTGTCTTAATTTCCCTTATTTCTACTTCTTTGGTTGAATCTATGAACTTGATTGTATAATT TTCTTATAAATTACTGATGTAATCAGCTTGTCAATTATGTTGTGAAATTGTTAGTATTCATTTATCAAAAATGACCTATGTTTAGTCACA TATTTGTTTAGTTCTGGGAAATTGTTATAGCTTAAATGGAACTCACCAACATTATTCATAGTTTAAGTCTTTTATCATTATTACCTCAAT TATAAATATTACAAAAACATAATTCTGGCAATGAGAGTATTTTTTTATTCAATGATCAAGGAGCAATGTCAGTATATAGTAGAATATCAA TTAAATTATATCCTAAAATGTATATTTTGCATAAAAGAGATATTCTTTAATCAATTACTTTTTTGTGAGTTTTGTGGCAAATGAAGCTTG TACGTGTCTTTAAAACTGTTGTAGATGAAACTGTATAAGATTTTTACATCTTGCTTAATCAATATTTTCAGAGTCTATTAGTTCCCCTGG GATTCTGAATATAACATATAGCCTATTATAAATCCCTGTATCGTGGACCTTTTGTGAACATTTCAAGGCGCATGCACAACCTTGATGATA >In-frame_ENST00000308330_ENST00000350228_TCGA-DX-AB2F-01A_LEMD3_chr12_65612399_+_KCNC2_chr12_75445097_length(amino acids)=894AA_start in transcript=26_stop in transcript=2710 MAAAAASAPQQLSDEELFSQLRRYGLSPGPVTESTRPVYLKKLKKLREEEQQQHRSGGRGNKTRNSNNNNTAAATVAAAGPAAAAAAGMG VRPVSGDLSYLRTPGGLCRISASGPESLLGGPGGASAAPAAGSKVLLGFSSDESDVEASPRDQAGGGGRKDRASLQYRGLKAPPAPLAAS EVTNSNSAERRKPHSWWGARRPAGPELQTPPGKDGAVEDEEGEGEDGEERDPETEEPLWASRTVNGSRLVPYSCRENYSDSEEEDDDDVA SSRQVLKDDSLSRHRPRRTHSKPLPPLTAKSAGGRLETSVQGGGGLAMNDRAAAAGSLDRSRNLEEAAAAEQGGGCDQVDSSPVPRYRVN AKKLTPLLPPPLTDMDSTLDSSTGSLLKTNNHIGGGAFSVDSPRIYSNSLPPSAAVAASSSLRINHANHTGSNHTYLKNTYNKPKLSEPE EELLQQFKREEVSPTGSFSAHYLSMFLLTAACLFFLILGLTYLGMRGTGVSEDGELSIENPFGETFGKIQESEKTLMMNTLYKLHDRLAQ LAGDHECGSSSQRTLSVQEAAAYLKFIAFASLFFILVSITTFCLETHEAFNIVKNKTEPVINGTSVVLQYEIETDPALTYVEGVCVVWFT FEFLVRIVFSPNKLEFIKNLLNIIDFVAILPFYLEVGLSGLSSKAAKDVLGFLRVVRFVRILRIFKLTRHFVGLRVLGHTLRASTNEFLL LIIFLALGVLIFATMIYYAERVGAQPNDPSASEHTQFKNIPIGFWWAVVTMTTLGYGDMYPQTWSGMLVGALCALAGVLTIAMPVPVIVN -------------------------------------------------------------- >In-frame_ENST00000308330_ENST00000540018_TCGA-DX-AB2F-01A_LEMD3_chr12_65612399_+_KCNC2_chr12_75445097_length(transcript)=2930nt_BP=1721nt AGCTTGTAAAACACCCTGGAGAGAAAATGGCGGCGGCAGCAGCTTCGGCGCCTCAGCAGCTCTCGGATGAGGAGCTTTTCTCTCAGCTCC GCCGTTACGGCCTGTCTCCCGGACCAGTGACGGAGAGCACCCGCCCGGTCTACCTCAAGAAGCTGAAGAAGCTTCGAGAGGAAGAGCAGC AACAGCACCGGTCAGGGGGCCGCGGCAACAAGACGCGGAACAGTAATAACAATAACACGGCAGCCGCCACGGTCGCAGCCGCGGGACCAG CGGCGGCGGCGGCCGCGGGGATGGGGGTCCGGCCGGTCTCGGGCGACCTCTCCTACTTACGGACTCCTGGGGGCCTGTGCCGAATCTCGG CCTCTGGCCCAGAGAGCCTCCTGGGAGGGCCCGGGGGCGCCTCCGCCGCCCCCGCGGCTGGCAGCAAAGTGCTGCTGGGCTTCAGCTCGG ACGAGTCGGACGTGGAGGCCAGTCCCCGGGACCAGGCCGGCGGCGGCGGGAGGAAAGACCGGGCTTCGCTCCAGTACCGCGGGCTCAAAG CGCCGCCGGCGCCCCTGGCCGCCAGCGAGGTGACTAACAGCAACTCTGCAGAGCGAAGGAAGCCCCACTCGTGGTGGGGGGCCAGGAGGC CGGCGGGCCCCGAGCTGCAGACCCCGCCGGGGAAAGATGGAGCAGTGGAGGACGAGGAAGGGGAGGGAGAGGACGGTGAGGAGAGGGACC CGGAGACCGAGGAGCCGCTCTGGGCGAGCCGGACCGTGAATGGCAGCCGGCTTGTCCCCTACAGCTGCCGGGAAAACTATTCGGACTCAG AGGAAGAGGACGACGACGACGTGGCCTCCAGCAGACAGGTATTAAAGGACGACTCCCTTTCCCGGCATCGGCCCAGACGAACCCATAGTA AGCCTCTCCCCCCGCTGACTGCTAAATCGGCCGGCGGCAGGCTGGAGACTTCAGTTCAGGGAGGGGGAGGACTCGCGATGAATGACAGGG CGGCGGCTGCCGGGAGTCTAGACAGGAGCCGAAACCTCGAAGAGGCGGCGGCCGCGGAGCAGGGAGGAGGGTGTGATCAAGTGGACTCCA GCCCCGTTCCTAGATACCGTGTTAACGCTAAGAAACTGACCCCTCTCCTGCCCCCGCCACTTACTGACATGGACTCAACCTTGGATTCGT CAACAGGCTCCCTTCTGAAAACCAATAATCATATTGGCGGTGGGGCCTTCAGTGTGGACTCCCCCAGGATTTATTCTAACAGTCTCCCTC CCAGTGCGGCGGTGGCCGCCTCTAGTTCACTCAGGATCAATCACGCCAATCATACGGGCTCCAATCATACCTACCTGAAAAACACATACA ACAAACCGAAGCTTTCCGAACCCGAAGAGGAACTTCTCCAGCAATTTAAACGGGAGGAGGTGTCCCCAACAGGGAGTTTCAGTGCCCACT ACTTGTCGATGTTTCTCTTAACTGCTGCCTGCTTATTTTTCCTAATACTGGGACTGACTTACCTAGGAATGAGAGGGACAGGAGTATCTG AGGATGGAGAACTCAGCATAGAAAACCCCTTTGGTGAAACATTTGGAAAAATACAAGAAAGTGAAAAAACTCTTATGATGAACACATTAT ATAAGCTTCATGATCGATTGGCACAGCTTGCAGGAGATCATGAATGTGGCAGTTCTAGTCAAAGAACGCTTTCTGTTCAAGAGGCAGCTG CGTATTTAAAATTTATTGCTTTTGCTTCTTTATTCTTCATCCTGGTTTCAATTACAACTTTTTGCCTGGAAACACATGAAGCTTTCAATA TTGTTAAAAACAAGACAGAACCAGTCATCAATGGCACAAGTGTTGTTCTACAGTATGAAATTGAAACGGATCCTGCCTTGACGTATGTAG AAGGAGTGTGTGTGGTGTGGTTTACTTTTGAATTTTTAGTCCGTATTGTTTTTTCACCCAATAAACTTGAATTCATCAAAAATCTCTTGA ATATCATTGACTTTGTGGCCATCCTACCTTTCTACTTAGAGGTGGGACTCAGTGGGCTGTCATCCAAAGCTGCTAAAGATGTGCTTGGCT TCCTCAGGGTGGTAAGGTTTGTGAGGATCCTGAGAATTTTCAAGCTCACCCGCCATTTTGTAGGTCTGAGGGTGCTTGGACATACTCTTC GAGCTAGTACTAATGAATTTTTGCTGCTGATAATTTTCCTGGCTCTAGGAGTTTTGATATTTGCTACCATGATCTACTATGCCGAGAGAG TGGGAGCTCAACCTAACGACCCTTCAGCTAGTGAGCACACACAGTTCAAAAACATTCCCATTGGGTTCTGGTGGGCTGTAGTGACCATGA CTACCCTGGGTTATGGGGATATGTACCCCCAAACATGGTCAGGCATGCTGGTGGGAGCCCTGTGTGCTCTGGCTGGAGTGCTGACAATAG CCATGCCAGTGCCTGTCATTGTCAATAATTTTGGAATGTACTACTCCTTGGCAATGGCAAAGCAGAAACTTCCAAGGAAAAGAAAGAAGC ACATCCCTCCTGCTCCTCAGGCAAGCTCACCTACTTTTTGCAAGACAGAATTAAATATGGCCTGCAATAGTACACAGAGTGACACATGTC TGGGCAAAGACAATCGACTTCTGGAACATAACAGATCAGGATATGAAAAATCCCGAAGCTTAAACAACATAGCGGGCTTGGCAGGCAATG CTCTGAGGCTCTCTCCAGTAACATCACCCTACAACTCTCCTTGTCCTCTGAGGCGCTCTCGATCTCCCATCCCATCTATCTTGTAAACCA AACAACCAAACTGCATCAGTCGGCTAAATTGTATTAATTCAAGTGCTGTTTACCCCATAATGGAAATAATTAAATGTAGAGTTACTCCAG >In-frame_ENST00000308330_ENST00000540018_TCGA-DX-AB2F-01A_LEMD3_chr12_65612399_+_KCNC2_chr12_75445097_length(amino acids)=919AA_start in transcript=26_stop in transcript=2785 MAAAAASAPQQLSDEELFSQLRRYGLSPGPVTESTRPVYLKKLKKLREEEQQQHRSGGRGNKTRNSNNNNTAAATVAAAGPAAAAAAGMG VRPVSGDLSYLRTPGGLCRISASGPESLLGGPGGASAAPAAGSKVLLGFSSDESDVEASPRDQAGGGGRKDRASLQYRGLKAPPAPLAAS EVTNSNSAERRKPHSWWGARRPAGPELQTPPGKDGAVEDEEGEGEDGEERDPETEEPLWASRTVNGSRLVPYSCRENYSDSEEEDDDDVA SSRQVLKDDSLSRHRPRRTHSKPLPPLTAKSAGGRLETSVQGGGGLAMNDRAAAAGSLDRSRNLEEAAAAEQGGGCDQVDSSPVPRYRVN AKKLTPLLPPPLTDMDSTLDSSTGSLLKTNNHIGGGAFSVDSPRIYSNSLPPSAAVAASSSLRINHANHTGSNHTYLKNTYNKPKLSEPE EELLQQFKREEVSPTGSFSAHYLSMFLLTAACLFFLILGLTYLGMRGTGVSEDGELSIENPFGETFGKIQESEKTLMMNTLYKLHDRLAQ LAGDHECGSSSQRTLSVQEAAAYLKFIAFASLFFILVSITTFCLETHEAFNIVKNKTEPVINGTSVVLQYEIETDPALTYVEGVCVVWFT FEFLVRIVFSPNKLEFIKNLLNIIDFVAILPFYLEVGLSGLSSKAAKDVLGFLRVVRFVRILRIFKLTRHFVGLRVLGHTLRASTNEFLL LIIFLALGVLIFATMIYYAERVGAQPNDPSASEHTQFKNIPIGFWWAVVTMTTLGYGDMYPQTWSGMLVGALCALAGVLTIAMPVPVIVN NFGMYYSLAMAKQKLPRKRKKHIPPAPQASSPTFCKTELNMACNSTQSDTCLGKDNRLLEHNRSGYEKSRSLNNIAGLAGNALRLSPVTS -------------------------------------------------------------- >In-frame_ENST00000308330_ENST00000393288_TCGA-DX-AB2F-01A_LEMD3_chr12_65612399_+_KCNC2_chr12_75445097_length(transcript)=3271nt_BP=1721nt AGCTTGTAAAACACCCTGGAGAGAAAATGGCGGCGGCAGCAGCTTCGGCGCCTCAGCAGCTCTCGGATGAGGAGCTTTTCTCTCAGCTCC GCCGTTACGGCCTGTCTCCCGGACCAGTGACGGAGAGCACCCGCCCGGTCTACCTCAAGAAGCTGAAGAAGCTTCGAGAGGAAGAGCAGC AACAGCACCGGTCAGGGGGCCGCGGCAACAAGACGCGGAACAGTAATAACAATAACACGGCAGCCGCCACGGTCGCAGCCGCGGGACCAG CGGCGGCGGCGGCCGCGGGGATGGGGGTCCGGCCGGTCTCGGGCGACCTCTCCTACTTACGGACTCCTGGGGGCCTGTGCCGAATCTCGG CCTCTGGCCCAGAGAGCCTCCTGGGAGGGCCCGGGGGCGCCTCCGCCGCCCCCGCGGCTGGCAGCAAAGTGCTGCTGGGCTTCAGCTCGG ACGAGTCGGACGTGGAGGCCAGTCCCCGGGACCAGGCCGGCGGCGGCGGGAGGAAAGACCGGGCTTCGCTCCAGTACCGCGGGCTCAAAG CGCCGCCGGCGCCCCTGGCCGCCAGCGAGGTGACTAACAGCAACTCTGCAGAGCGAAGGAAGCCCCACTCGTGGTGGGGGGCCAGGAGGC CGGCGGGCCCCGAGCTGCAGACCCCGCCGGGGAAAGATGGAGCAGTGGAGGACGAGGAAGGGGAGGGAGAGGACGGTGAGGAGAGGGACC CGGAGACCGAGGAGCCGCTCTGGGCGAGCCGGACCGTGAATGGCAGCCGGCTTGTCCCCTACAGCTGCCGGGAAAACTATTCGGACTCAG AGGAAGAGGACGACGACGACGTGGCCTCCAGCAGACAGGTATTAAAGGACGACTCCCTTTCCCGGCATCGGCCCAGACGAACCCATAGTA AGCCTCTCCCCCCGCTGACTGCTAAATCGGCCGGCGGCAGGCTGGAGACTTCAGTTCAGGGAGGGGGAGGACTCGCGATGAATGACAGGG CGGCGGCTGCCGGGAGTCTAGACAGGAGCCGAAACCTCGAAGAGGCGGCGGCCGCGGAGCAGGGAGGAGGGTGTGATCAAGTGGACTCCA GCCCCGTTCCTAGATACCGTGTTAACGCTAAGAAACTGACCCCTCTCCTGCCCCCGCCACTTACTGACATGGACTCAACCTTGGATTCGT CAACAGGCTCCCTTCTGAAAACCAATAATCATATTGGCGGTGGGGCCTTCAGTGTGGACTCCCCCAGGATTTATTCTAACAGTCTCCCTC CCAGTGCGGCGGTGGCCGCCTCTAGTTCACTCAGGATCAATCACGCCAATCATACGGGCTCCAATCATACCTACCTGAAAAACACATACA ACAAACCGAAGCTTTCCGAACCCGAAGAGGAACTTCTCCAGCAATTTAAACGGGAGGAGGTGTCCCCAACAGGGAGTTTCAGTGCCCACT ACTTGTCGATGTTTCTCTTAACTGCTGCCTGCTTATTTTTCCTAATACTGGGACTGACTTACCTAGGAATGAGAGGGACAGGAGTATCTG AGGATGGAGAACTCAGCATAGAAAACCCCTTTGGTGAAACATTTGGAAAAATACAAGAAAGTGAAAAAACTCTTATGATGAACACATTAT ATAAGCTTCATGATCGATTGGCACAGCTTGCAGGAGATCATGAATGTGGCAGTTCTAGTCAAAGAACGCTTTCTGTTCAAGAGGCAGCTG CGTATTTAAAATTTATTGCTTTTGCTTCTTTATTCTTCATCCTGGTTTCAATTACAACTTTTTGCCTGGAAACACATGAAGCTTTCAATA TTGTTAAAAACAAGACAGAACCAGTCATCAATGGCACAAGTGTTGTTCTACAGTATGAAATTGAAACGGATCCTGCCTTGACGTATGTAG AAGGAGTGTGTGTGGTGTGGTTTACTTTTGAATTTTTAGTCCGTATTGTTTTTTCACCCAATAAACTTGAATTCATCAAAAATCTCTTGA ATATCATTGACTTTGTGGCCATCCTACCTTTCTACTTAGAGGTGGGACTCAGTGGGCTGTCATCCAAAGCTGCTAAAGATGTGCTTGGCT TCCTCAGGGTGGTAAGGTTTGTGAGGATCCTGAGAATTTTCAAGCTCACCCGCCATTTTGTAGGTCTGAGGGTGCTTGGACATACTCTTC GAGCTAGTACTAATGAATTTTTGCTGCTGATAATTTTCCTGGCTCTAGGAGTTTTGATATTTGCTACCATGATCTACTATGCCGAGAGAG TGGGAGCTCAACCTAACGACCCTTCAGCTAGTGAGCACACACAGTTCAAAAACATTCCCATTGGGTTCTGGTGGGCTGTAGTGACCATGA CTACCCTGGGTTATGGGGATATGTACCCCCAAACATGGTCAGGCATGCTGGTGGGAGCCCTGTGTGCTCTGGCTGGAGTGCTGACAATAG CCATGCCAGTGCCTGTCATTGTCAATAATTTTGGAATGTACTACTCCTTGGCAATGGCAAAGCAGAAACTTCCAAGGAAAAGAAAGAAGC ACATCCCTCCTGCTCCTCAGGCAAGCTCACCTACTTTTTGCAAGACAGAATTAAATATGGCCTGCAATAGTACACAGAGTGACACATGTC TGGGCAAAGACAATCGACTTCTGGAACATAACAGATCAGTGTTATCAGGTGACGACAGTACAGGAAGTGAGCCGCCACTATCACCCCCAG AAAGGCTCCCCATCAGACGCTCTAGTACCAGAGACAAAAACAGAAGAGGGGAAACATGTTTCCTACTGACGACAGGTGATTACACGTGTG CTTCTGATGGAGGGATCAGGAAAGGAATTAGAAATGGGCATTCCATCCTACATCACCTGGATAATGGCACCAAATGCCATTATTTAAGAA TCATCTTTTAACCCTATAAAGCTGGAAGATTAAATATGCTGGAAAAAGAGTTGTCCATTTAAACTTAAGTATGCTTTATTGGCTTAGGAA ATAAAAAATGAAAAGAGAAAAAGTAGCCTACTTATTTCTCTTTTTTTCAAGAATACATTCTGAAATTTAAAAATATTAGTCAAGCTTATA TCTTACTTAAGTTGCTTTGCCTAATTTTTAAATGAGTTCTAGTATTCTATATGCCAAAATTATATTAATGCTAACTATAATCTGGGAAAA AATATATTTTGAAGTATTGTAACAATAATTTGTGATGGCTGGTTTAATCTTTTCAAAATGGCAACTACAGTGAGCTTCATTTTTTTAGAG >In-frame_ENST00000308330_ENST00000393288_TCGA-DX-AB2F-01A_LEMD3_chr12_65612399_+_KCNC2_chr12_75445097_length(amino acids)=954AA_start in transcript=26_stop in transcript=2890 MAAAAASAPQQLSDEELFSQLRRYGLSPGPVTESTRPVYLKKLKKLREEEQQQHRSGGRGNKTRNSNNNNTAAATVAAAGPAAAAAAGMG VRPVSGDLSYLRTPGGLCRISASGPESLLGGPGGASAAPAAGSKVLLGFSSDESDVEASPRDQAGGGGRKDRASLQYRGLKAPPAPLAAS EVTNSNSAERRKPHSWWGARRPAGPELQTPPGKDGAVEDEEGEGEDGEERDPETEEPLWASRTVNGSRLVPYSCRENYSDSEEEDDDDVA SSRQVLKDDSLSRHRPRRTHSKPLPPLTAKSAGGRLETSVQGGGGLAMNDRAAAAGSLDRSRNLEEAAAAEQGGGCDQVDSSPVPRYRVN AKKLTPLLPPPLTDMDSTLDSSTGSLLKTNNHIGGGAFSVDSPRIYSNSLPPSAAVAASSSLRINHANHTGSNHTYLKNTYNKPKLSEPE EELLQQFKREEVSPTGSFSAHYLSMFLLTAACLFFLILGLTYLGMRGTGVSEDGELSIENPFGETFGKIQESEKTLMMNTLYKLHDRLAQ LAGDHECGSSSQRTLSVQEAAAYLKFIAFASLFFILVSITTFCLETHEAFNIVKNKTEPVINGTSVVLQYEIETDPALTYVEGVCVVWFT FEFLVRIVFSPNKLEFIKNLLNIIDFVAILPFYLEVGLSGLSSKAAKDVLGFLRVVRFVRILRIFKLTRHFVGLRVLGHTLRASTNEFLL LIIFLALGVLIFATMIYYAERVGAQPNDPSASEHTQFKNIPIGFWWAVVTMTTLGYGDMYPQTWSGMLVGALCALAGVLTIAMPVPVIVN NFGMYYSLAMAKQKLPRKRKKHIPPAPQASSPTFCKTELNMACNSTQSDTCLGKDNRLLEHNRSVLSGDDSTGSEPPLSPPERLPIRRSS -------------------------------------------------------------- |
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Fusion Gene PPI Analysis for LEMD3-KCNC2 |
Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in |
Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
- Retained PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
- Lost PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
Hgene | LEMD3 | chr12:65612399 | chr12:75445097 | ENST00000308330 | + | 4 | 13 | 699_911 | 565.0 | 912.0 | SMAD1%2C SMAD2%2C SMAD3 and SMAD5 |
- Retained PPIs, but lost function due to frame-shift fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs for LEMD3-KCNC2 |
Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for LEMD3-KCNC2 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | LEMD3 | C0265514 | Dermatofibrosis lenticularis disseminata | 2 | CTD_human;GENOMICS_ENGLAND;ORPHANET |
Hgene | LEMD3 | C2931505 | Mixed sclerosing bone dystrophy | 2 | ORPHANET |
Hgene | LEMD3 | C3149631 | MELORHEOSTOSIS, ISOLATED | 2 | GENOMICS_ENGLAND |
Hgene | LEMD3 | C3149695 | Melorheostosis with Osteopoikilosis | 2 | ORPHANET |
Hgene | LEMD3 | C0029455 | Osteopoikilosis (disorder) | 1 | ORPHANET |
Hgene | LEMD3 | C0152423 | Congenital small ears | 1 | GENOMICS_ENGLAND |
Hgene | LEMD3 | C1833699 | Osteopoikilosis, Isolated | 1 | ORPHANET |
Hgene | LEMD3 | C4305140 | 12q14 microdeletion syndrome | 1 | ORPHANET |