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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:SMG6-SHPK (FusionGDB2 ID:83545) |
Fusion Gene Summary for SMG6-SHPK |
Fusion gene summary |
Fusion gene information | Fusion gene name: SMG6-SHPK | Fusion gene ID: 83545 | Hgene | Tgene | Gene symbol | SMG6 | SHPK | Gene ID | 23293 | 23729 |
Gene name | SMG6 nonsense mediated mRNA decay factor | sedoheptulokinase | |
Synonyms | C17orf31|EST1A|SMG-6|hSMG5/7a | CARKL|SHK | |
Cytomap | 17p13.3 | 17p13.2 | |
Type of gene | protein-coding | protein-coding | |
Description | telomerase-binding protein EST1AEST1 telomerase component homolog Aever shorter telomeres 1Asmg-6 homolog, nonsense mediated mRNA decay factortelomerase subunit EST1A | sedoheptulokinasecarbohydrate kinase-like protein | |
Modification date | 20200320 | 20200313 | |
UniProtAcc | . | . | |
Ensembl transtripts involved in fusion gene | ENST00000544865, ENST00000263073, ENST00000354901, ENST00000536871, ENST00000573166, | ENST00000225519, ENST00000572705, | |
Fusion gene scores | * DoF score | 19 X 14 X 6=1596 | 3 X 3 X 3=27 |
# samples | 19 | 3 | |
** MAII score | log2(19/1596*10)=-3.0703893278914 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: SMG6 [Title/Abstract] AND SHPK [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | SMG6(2139786)-SHPK(3518831), # samples:1 | ||
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 | SMG6 | GO:1904354 | negative regulation of telomere capping | 12676087 |
Tgene | SHPK | GO:0005975 | carbohydrate metabolic process | 19413330 |
Tgene | SHPK | GO:0016310 | phosphorylation | 19413330 |
Tgene | SHPK | GO:0071222 | cellular response to lipopolysaccharide | 22682222 |
Fusion gene breakpoints across SMG6 (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 SHPK (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 | PRAD | TCGA-HC-8265-01B | SMG6 | chr17 | 2139786 | - | SHPK | chr17 | 3518831 | - |
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Fusion Gene ORF analysis for SMG6-SHPK |
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 | ENST00000544865 | ENST00000225519 | SMG6 | chr17 | 2139786 | - | SHPK | chr17 | 3518831 | - |
5CDS-intron | ENST00000544865 | ENST00000572705 | SMG6 | chr17 | 2139786 | - | SHPK | chr17 | 3518831 | - |
In-frame | ENST00000263073 | ENST00000225519 | SMG6 | chr17 | 2139786 | - | SHPK | chr17 | 3518831 | - |
5CDS-intron | ENST00000263073 | ENST00000572705 | SMG6 | chr17 | 2139786 | - | SHPK | chr17 | 3518831 | - |
In-frame | ENST00000354901 | ENST00000225519 | SMG6 | chr17 | 2139786 | - | SHPK | chr17 | 3518831 | - |
5CDS-intron | ENST00000354901 | ENST00000572705 | SMG6 | chr17 | 2139786 | - | SHPK | chr17 | 3518831 | - |
In-frame | ENST00000536871 | ENST00000225519 | SMG6 | chr17 | 2139786 | - | SHPK | chr17 | 3518831 | - |
5CDS-intron | ENST00000536871 | ENST00000572705 | SMG6 | chr17 | 2139786 | - | SHPK | chr17 | 3518831 | - |
intron-3CDS | ENST00000573166 | ENST00000225519 | SMG6 | chr17 | 2139786 | - | SHPK | chr17 | 3518831 | - |
intron-intron | ENST00000573166 | ENST00000572705 | SMG6 | chr17 | 2139786 | - | SHPK | chr17 | 3518831 | - |
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) |
ENST00000544865 | SMG6 | chr17 | 2139786 | - | ENST00000225519 | SHPK | chr17 | 3518831 | - | 6199 | 3287 | 511 | 3900 | 1129 |
ENST00000263073 | SMG6 | chr17 | 2139786 | - | ENST00000225519 | SHPK | chr17 | 3518831 | - | 5832 | 2920 | 51 | 3533 | 1160 |
ENST00000354901 | SMG6 | chr17 | 2139786 | - | ENST00000225519 | SHPK | chr17 | 3518831 | - | 3352 | 440 | 232 | 1053 | 273 |
ENST00000536871 | SMG6 | chr17 | 2139786 | - | ENST00000225519 | SHPK | chr17 | 3518831 | - | 3299 | 387 | 242 | 1000 | 252 |
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 |
ENST00000544865 | ENST00000225519 | SMG6 | chr17 | 2139786 | - | SHPK | chr17 | 3518831 | - | 0.001418953 | 0.99858105 |
ENST00000263073 | ENST00000225519 | SMG6 | chr17 | 2139786 | - | SHPK | chr17 | 3518831 | - | 0.001028332 | 0.9989717 |
ENST00000354901 | ENST00000225519 | SMG6 | chr17 | 2139786 | - | SHPK | chr17 | 3518831 | - | 0.020345276 | 0.9796547 |
ENST00000536871 | ENST00000225519 | SMG6 | chr17 | 2139786 | - | SHPK | chr17 | 3518831 | - | 0.020659927 | 0.9793401 |
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Fusion Genomic Features for SMG6-SHPK |
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 SMG6-SHPK |
Go to FGviewer for the breakpoints of chr17:2139786-chr17:3518831 - 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 |
. | . |
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. | 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 | SMG6 | chr17:2139786 | chr17:3518831 | ENST00000263073 | - | 10 | 19 | 163_193 | 956.3333333333334 | 1420.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | SMG6 | chr17:2139786 | chr17:3518831 | ENST00000263073 | - | 10 | 19 | 567_625 | 956.3333333333334 | 1420.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | SMG6 | chr17:2139786 | chr17:3518831 | ENST00000544865 | - | 10 | 19 | 163_193 | 925.3333333333334 | 1389.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | SMG6 | chr17:2139786 | chr17:3518831 | ENST00000544865 | - | 10 | 19 | 567_625 | 925.3333333333334 | 1389.0 | Coiled coil | Ontology_term=ECO:0000255 |
- 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 | SMG6 | chr17:2139786 | chr17:3518831 | ENST00000263073 | - | 10 | 19 | 1197_1239 | 956.3333333333334 | 1420.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | SMG6 | chr17:2139786 | chr17:3518831 | ENST00000354901 | - | 3 | 12 | 1197_1239 | 48.333333333333336 | 512.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | SMG6 | chr17:2139786 | chr17:3518831 | ENST00000354901 | - | 3 | 12 | 163_193 | 48.333333333333336 | 512.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | SMG6 | chr17:2139786 | chr17:3518831 | ENST00000354901 | - | 3 | 12 | 567_625 | 48.333333333333336 | 512.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | SMG6 | chr17:2139786 | chr17:3518831 | ENST00000536871 | - | 2 | 11 | 1197_1239 | 48.333333333333336 | 512.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | SMG6 | chr17:2139786 | chr17:3518831 | ENST00000536871 | - | 2 | 11 | 163_193 | 48.333333333333336 | 512.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | SMG6 | chr17:2139786 | chr17:3518831 | ENST00000536871 | - | 2 | 11 | 567_625 | 48.333333333333336 | 512.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | SMG6 | chr17:2139786 | chr17:3518831 | ENST00000544865 | - | 10 | 19 | 1197_1239 | 925.3333333333334 | 1389.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | SMG6 | chr17:2139786 | chr17:3518831 | ENST00000263073 | - | 10 | 19 | 1246_1397 | 956.3333333333334 | 1420.0 | Domain | Note=PINc |
Hgene | SMG6 | chr17:2139786 | chr17:3518831 | ENST00000354901 | - | 3 | 12 | 1246_1397 | 48.333333333333336 | 512.0 | Domain | Note=PINc |
Hgene | SMG6 | chr17:2139786 | chr17:3518831 | ENST00000536871 | - | 2 | 11 | 1246_1397 | 48.333333333333336 | 512.0 | Domain | Note=PINc |
Hgene | SMG6 | chr17:2139786 | chr17:3518831 | ENST00000544865 | - | 10 | 19 | 1246_1397 | 925.3333333333334 | 1389.0 | Domain | Note=PINc |
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Fusion Gene Sequence for SMG6-SHPK |
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_ENST00000544865_ENST00000225519_TCGA-HC-8265-01B_SMG6_chr17_2139786_-_SHPK_chr17_3518831_length(transcript)=6199nt_BP=3287nt AGCAGTAGGCGCTGGGGCCGCGGCGGACCCTCGCTGCCCTACCTCTCTCGCGGGTTAGTGCGGGGTCGGGCTCGGCCAGTCCTGGCCAGC TCCGGGAGAGCCTGGCCCGAATTCCTGCCTCCACCCTCTTTCTCGCCGCGAAGGTGACTGTTCCTTTTGCCCCAGCCCTCTCAGACCCGC CCCGGATTCCCAGGCATCGGGAGACGCGGAAAGGAGTGGGGTCTGGTGGAGGCCCCGGGCGTATCGCTCTCCAGGCCGCCCTCCGCGGGC CTGCCCCGGCCACCGCTTTAACGTCGGAGAGAAGGAATTGGGGAGAAAGGTTTAAGAGCCTGCGACTTCGTTGCTGAACTTTTCCCCCCC AAGACAGGCTTCCGAAAGCTGCGCCACTGGAGGGATCCGGGACCTCAGACTACTCGGGTTTGGCCCTGGCATGTGTGGGAGCAGTTTTTA TTAGAGAGAATGCTCAATTTGCAAGTTAATTTCAAGTCTCCAGCCACGTCAGGAAAAAAACATGAAGGAATTAAAGGAGGCCAGGCCGCG CAAAGATAACAGGCGTCCAGATCTGGAAATCTATAAGCCTGGCCTTTCTCGGCTAAGGAACAAGCCCAAAATCAAGGAACCCCCTGGGAG TGAGGAATTCAAAGATGAAATTGTTAATGACCGAGATTGCTCTGCTGTTGAAAATGGTACACAGCCCGTTAAAGATGTCTGCAAGGAACT GAACAACCAAGAGCAGAATGGTCCTATAGACCCAGAAAATAATCGGGGACAAGAATCCTTTCCTAGGACTGCTGGACAAGAGGATCGTAG TCTAAAAATTATCAAAAGAACAAAGAAACCCGACCTGCAGATCTATCAGCCTGGACGACGTTTGCAGACTGTTAGCAAAGAATCCGCCAG TCGGGTGGAGGAGGAAGAAGTCCTCAACCAGGTAGAACAACTGAGAGTAGAGGAAGATGAGTGTAGGGGAAATGTTGCGAAGGAGGAAGT TGCGAATAAACCAGACAGGGCTGAGATAGAAAAGAGCCCAGGTGGTGGGAGAGTAGGGGCTGCAAAAGGAGAAAAAGGAAAGAGGATGGG AAAAGGGGAGGGGGTGAGGGAAACCCACGACGACCCAGCCCGCGGGAGGCCGGGCTCCGCAAAGCGCTACTCCCGCTCAGACAAACGAAG GAATCGCTACCGCACGCGCAGCACCAGCTCAGCTGGCAGCAACAACAGCGCTGAGGGAGCTGGCCTGACGGATAATGGATGTCGCCGCCG CCGACAGGATAGGACCAAGGAGAGGCCACGACTGAAGAAGCAAGTGTCTGTGTCCTCAACCGATTCCTTAGACGAGGACAGAATTGATGA GCCTGATGGATTAGGACCCAGGAGAAGTTCAGAAAGGAAGAGACATTTAGAAAGAAACTGGTCTGGCCGTGGGGAGGGTGAGCAGAAAAA CAGTGCTAAAGAATATCGAGGCACTCTTCGTGTCACTTTCGATGCAGAAGCCATGAACAAAGAGTCTCCCATGGTGAGGTCAGCCAGGGA TGATATGGATAGAGGAAAGCCTGACAAAGGCTTGAGCAGTGGGGGCAAAGGCTCTGAGAAGCAGGAGTCCAAAAACCCGAAACAAGAACT TCGGGGTCGTGGTCGTGGCATTCTGATTTTGCCTGCCCATACCACCCTATCTGTCAATTCAGCAGGTTCTCCAGAGTCCGCGCCTTTGGG ACCTCGGCTTTTGTTTGGATCTGGTAGTAAGGGATCTCGGAGTTGGGGCCGTGGAGGCACCACACGCCGATTGTGGGACCCAAACAATCC TGATCAGAAACCTGCTCTAAAGACTCAGACGCCCCAGCTACATTTCTTGGACACTGATGATGAAGTCAGCCCTACATCTTGGGGTGACTC ACGCCAGGCTCAGGCATCTTACTATAAGTTTCAAAACTCTGACAACCCCTATTATTACCCCCGGACACCAGGCCCTGCCTCCCAGTATCC CTATACGGGCTATAACCCTCTACAGTACCCAGTGGGCCCTACGAATGGTGTGTACCCAGGGCCTTACTACCCAGGCTACCCGACTCCGTC AGGACAGTATGTGTGTAGCCCTCTACCTACCAGCACCATGAGTCCCGAGGAGGTAGAGCAGCACATGAGGAACCTGCAGCAACAGGAGCT GCACAGGCTTCTCCGGGTGGCTGACAACCAGGAACTGCAGCTCAGCAACCTGCTCTCCAGGGACCGCATCAGTCCGGAGGGCCTGGAGAA GATGGCGCAACTCAGAGCTGAACTGCTGCAGCTATATGAGCGCTGTATTCTATTAGATATTGAGTTCTCTGATAATCAGAATGTGGATCA GATCCTGTGGAAGAATGCTTTCTATCAGGTGATTGAGAAGTTCAGGCAACTTGTCAAGGATCCGAATGTTGAGAACCCAGAACAGATTCG GAACAGACTTTTGGAGCTCTTGGATGAGGGTAGTGACTTCTTTGATAGTTTGCTTCAGAAGCTGCAGGTTACTTACAAGTTCAAACTGGA AGACTACATGGATGGTCTTGCCATTCGCAGCAAGCCATTACGCAAGACAGTAAAATATGCCTTGATCAGTGCCCAGCGATGCATGATATG CCAAGGAGATATTGCTAGGTACCGGGAGCAAGCCAGTGATACAGCGAATTATGGGAAAGCACGCAGTTGGTACCTGAAGGCCCAGCACAT TGCTCCCAAGAATGGGCGCCCCTATAACCAGTTGGCTTTGCTGGCAGTGTATACGAGGAGGAAGCTTGACGCTGTCTATTACTATATGCG CAGTTTAGCTGCCAGCAACCCTATCCTGACTGCCAAGGAGAGTCTCATGAGCTTGTTTGAAGAGACCAAGCGGAAGGCAGAACAGATGGA AAAGAAGCAACATGAGGAATTTGACCTGAGCCCTGACCAGTGGCGGAAAGGAAAGAAGTCTACTTTCCGGCATGTTGGAGATGACACCAC TCGCCTGGAGATCTGGATTCATCCATCCCATCCACGGTCTTCCCAGGGCACTGAGTCTGGGAAGGATTCTGAGCAAGAGAATGGGCTGGG CAGCCTGAGTCCCAGTGATCTGAACAAAAGGTTCATCCTCAGTTTTCTCCATGCCCATGGGAAGCTGTTTACCCGGATTGGGATGGAGAC ATTCCCTGCAGTGGCTGAGAAGGTCCTCAAGGAGTTCCAGGTGTTACTGCAGCACAGCCCCTCTCCCATTGGAAGTACCCGCATGCTGCA GCTTATGACCATCAATATGTTTGCAGTACACAACTCCCAGCTGAAAGTTCTCAACATCAGCACCTCGGTTCAGCTGGCAGCCTCCATGCC TTCAGGATTCCAGCCTGCACAGACTCCAGACCCTACGGCCCCAGTCGCCTACTTCCCATACTTCAACAGGACCTACCTGGGGGTGGCCGC GTCACTCAACGGGGGCAATGTGCTGGCCACGTTCGTCCACATGCTGGTTCAGTGGATGGCAGATCTAGGCCTGGAGGTTGAAGAATCCAC TGTGTATTCACGCATGATTCAGGCAGCTGTGCAGCAGAGAGATACCCACCTGACCATCACCCCGACAGTGCTGGGGGAGAGGCACCTGCC GGACCAGCTGGCCTCAGTGACCAGAATCTCCTCCTCCGACCTCTCCCTGGGGCACGTGACCCGGGCTCTGTGCCGAGGCATTGTTCAGAA CCTGCACTCCATGCTTCCGATTCAGCAGCTCCAGGACTGGGGCGTGGAGAGGGTGATGGGCAGTGGGAGTGCGCTGTCCAGGAATGACGT GCTGAAGCAGGAGGTGCAGAGGGCTTTCCCTTTGCCCATGTCCTTTGGGCAGGATGTGGATGCAGCTGTCGGGGCAGCTCTGGTCATGCT CCGGAGACACCTCAACCAGAAGGAATCTTAGACAGCAAACTCTTTCGCCAAACGACTGCTGTGAATTTTACCTGATTAACATTCCTGACA CCATCTGTGGGTCATCCTTTCCCTGGACCGTTCAGTGGACAGCTTTCAAGCAGTGCTTGTTGTGAGGTCCCATCTCGGCCAAGAACTTAC CTTCAGAACATACTCTAATAATGCAGCCAGGAGCCGTCAGCCAGATCCCAAATGAGTGCCTTCCGAAATTGACCCACCTGGGAGCTATTT ACAAATGTCCATGTGGGAGAGAGAGAGCATGAGAGCACAGTAGCCCAGCCTGCTGGTCAGCAGGCTCATCTGTGGTTCACCTGTAGACAG AGAGCAGATCAATGTGTACTTCAGACACCAGAAAGTCTGGTGGCTTTGGTCCCAAGTGGGAAAAGAGAACTGCCCCATGCCCAGCTTGTG ATTATCGTTTTTGGAGACCTGAAGCCCACACTCGGGTCGTATGGACTTCTGGAAAAGTTCTTGTCTCCTGGACTGAACCATGTGACCGGA GGCCCCTTTCCTAGTCTCATCCTCCCCTGGCTGCAGATGCTTAGCTGGGCCAGGGATTGACCCAAGCGCGATGCAGCAGGCAGGCTCAGA AGACGATGCGGGGCTGTGTGCCGGCCTTCTTGCTGCATGTACTCAGCCTCAGGAGAGCTTGCTGCACCCAGGCCGCCCAGGTCTTCACAG CACAACTGCCTGGAAGGCAGGTTGCGAGAAGGAGAGGCGGATGGCATGAGCAGCAAGGGGGACCGATGCTGTGCAGCTCACACCACTCCA GAACCTGACAAGGCACCAGCAGGACCCCTTGCCAGGAGCATGTCTGTGCAGCAGTGTTTTTGCCCCTGCACATTCCAGAAGCCCTCATGG GAAGGGATGCAGCCAGGCAGACTCCTGCCAGATGGGGCAGGTAGTTTATTCAAAGAGAACTCTGTATCCCATAGGCCCAGGCTCTCCTTT CGCTTGGCGTGGGCTTTGCTGGCCCAGTGTGTGCTCCTGGCTCAGCAGAAACATCCATTTGAGTTGGCATCCCTGTAGGGATCCCAGAGC GTTGTAAGCCTTCTTGTGATTGGTAGGGATGGCTGTGGGGTGGCTTCCAGGAGGGGGCCACCATTGCCGCATCTACTTCTAGACTCCCAA AGGAGCCCAGGCTCAGGCAGGCCTGGCCCAGAGTCACGCTGGCAACCACGAGTTTGGGAAGCAGTCGTATTCTCTCTCTCTCTCTCTCTC TCTCTCTCAGTATCCATGACAGGTATGAAACATATTGTCTCTTTATAAATGTCATTTTACAAATTATGTGATTATCTGGAAGCTCTAAGA TGAGAGCAAATGCCTGATCACTCTGGCCAAATGTCAGATACTAAAGCCCATTCTTGGCCGGGCATGTTGGCTCCCGCCTGTAATCCCAGC ACTTTGGGAAGCCCAAGTGGGTGAATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGGGATACCCCGTCTCTACTAAAAA TACAAGCCGGGCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAAAATCACTTGAACTCGGGAGGCAGAGGTT GCAGTGAGCTGAGATCGCGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCATAAATAAATACAAAGCCCATTCTTCCAG AGTCTTGTGCCTTAAATAAAACACACCTCTCTGCTGTGGGAAGACTGTGCAATGGCACAGCCGCAGAGCTTGGTTTGGGAGGTTGAAGTG CTCTGGGGAGAATTCGTAGATCATCCTCAGAAAAGCCTTGCCCTGGTGTTCTACCAGAAAAACGTCTCCCAATCACCCAGGAAAGCTGTC CACAGTAGTCCCCCCTTATCCACGGTGTCACTTTCCATGGGTTCAGTTATCTGCGGTCAACCACGGTCTGACAATATTAAATGGAAAATT CTTCAAACAGTTCCCAAGTTTTCCCTTGTGCATTGTTCTGAGCAGTGTGATGGAGAGTCTCTGCCGTGCCATCTGGGATGCAAACCGTCC CTGTGTTCCCCACGTCCAGGCCGTAGATGCTCCCCGCCGGTCAGTCACTTAGTCGTCAGATCGCCCGTCCTGGTATCACAGTGCTTCTGT TCAGGTCAGTCTTTTTTTACTTCATTAGGGCCCCAAAGCACCAGAGTAGTGATGCTGGTAGTGATGCTGGCTGTTCGGATATGCCAAAGA >In-frame_ENST00000544865_ENST00000225519_TCGA-HC-8265-01B_SMG6_chr17_2139786_-_SHPK_chr17_3518831_length(amino acids)=1129AA_start in transcript=511_stop in transcript=3900 MKELKEARPRKDNRRPDLEIYKPGLSRLRNKPKIKEPPGSEEFKDEIVNDRDCSAVENGTQPVKDVCKELNNQEQNGPIDPENNRGQESF PRTAGQEDRSLKIIKRTKKPDLQIYQPGRRLQTVSKESASRVEEEEVLNQVEQLRVEEDECRGNVAKEEVANKPDRAEIEKSPGGGRVGA AKGEKGKRMGKGEGVRETHDDPARGRPGSAKRYSRSDKRRNRYRTRSTSSAGSNNSAEGAGLTDNGCRRRRQDRTKERPRLKKQVSVSST DSLDEDRIDEPDGLGPRRSSERKRHLERNWSGRGEGEQKNSAKEYRGTLRVTFDAEAMNKESPMVRSARDDMDRGKPDKGLSSGGKGSEK QESKNPKQELRGRGRGILILPAHTTLSVNSAGSPESAPLGPRLLFGSGSKGSRSWGRGGTTRRLWDPNNPDQKPALKTQTPQLHFLDTDD EVSPTSWGDSRQAQASYYKFQNSDNPYYYPRTPGPASQYPYTGYNPLQYPVGPTNGVYPGPYYPGYPTPSGQYVCSPLPTSTMSPEEVEQ HMRNLQQQELHRLLRVADNQELQLSNLLSRDRISPEGLEKMAQLRAELLQLYERCILLDIEFSDNQNVDQILWKNAFYQVIEKFRQLVKD PNVENPEQIRNRLLELLDEGSDFFDSLLQKLQVTYKFKLEDYMDGLAIRSKPLRKTVKYALISAQRCMICQGDIARYREQASDTANYGKA RSWYLKAQHIAPKNGRPYNQLALLAVYTRRKLDAVYYYMRSLAASNPILTAKESLMSLFEETKRKAEQMEKKQHEEFDLSPDQWRKGKKS TFRHVGDDTTRLEIWIHPSHPRSSQGTESGKDSEQENGLGSLSPSDLNKRFILSFLHAHGKLFTRIGMETFPAVAEKVLKEFQVLLQHSP SPIGSTRMLQLMTINMFAVHNSQLKVLNISTSVQLAASMPSGFQPAQTPDPTAPVAYFPYFNRTYLGVAASLNGGNVLATFVHMLVQWMA DLGLEVEESTVYSRMIQAAVQQRDTHLTITPTVLGERHLPDQLASVTRISSSDLSLGHVTRALCRGIVQNLHSMLPIQQLQDWGVERVMG -------------------------------------------------------------- >In-frame_ENST00000263073_ENST00000225519_TCGA-HC-8265-01B_SMG6_chr17_2139786_-_SHPK_chr17_3518831_length(transcript)=5832nt_BP=2920nt GCTGCGCGCGGCGGTGGCGGAGCCGCTACGGCTGTAGCAGCAGCCGCGAAGATGGCGGAAGGGCTGGAGCGTGTGCGGATCTCCGCGTCG GAGCTGCGCGGGATCCTGGCTACTCTGGCCCCGCAGGCCGGGAGCAGAGAAAACATGAAGGAATTAAAGGAGGCCAGGCCGCGCAAAGAT AACAGGCGTCCAGATCTGGAAATCTATAAGCCTGGCCTTTCTCGGCTAAGGAACAAGCCCAAAATCAAGGAACCCCCTGGGAGTGAGGAA TTCAAAGATGAAATTGTTAATGACCGAGATTGCTCTGCTGTTGAAAATGGTACACAGCCCGTTAAAGATGTCTGCAAGGAACTGAACAAC CAAGAGCAGAATGGTCCTATAGACCCAGAAAATAATCGGGGACAAGAATCCTTTCCTAGGACTGCTGGACAAGAGGATCGTAGTCTAAAA ATTATCAAAAGAACAAAGAAACCCGACCTGCAGATCTATCAGCCTGGACGACGTTTGCAGACTGTTAGCAAAGAATCCGCCAGTCGGGTG GAGGAGGAAGAAGTCCTCAACCAGGTAGAACAACTGAGAGTAGAGGAAGATGAGTGTAGGGGAAATGTTGCGAAGGAGGAAGTTGCGAAT AAACCAGACAGGGCTGAGATAGAAAAGAGCCCAGGTGGTGGGAGAGTAGGGGCTGCAAAAGGAGAAAAAGGAAAGAGGATGGGAAAAGGG GAGGGGGTGAGGGAAACCCACGACGACCCAGCCCGCGGGAGGCCGGGCTCCGCAAAGCGCTACTCCCGCTCAGACAAACGAAGGAATCGC TACCGCACGCGCAGCACCAGCTCAGCTGGCAGCAACAACAGCGCTGAGGGAGCTGGCCTGACGGATAATGGATGTCGCCGCCGCCGACAG GATAGGACCAAGGAGAGGCCACGACTGAAGAAGCAAGTGTCTGTGTCCTCAACCGATTCCTTAGACGAGGACAGAATTGATGAGCCTGAT GGATTAGGACCCAGGAGAAGTTCAGAAAGGAAGAGACATTTAGAAAGAAACTGGTCTGGCCGTGGGGAGGGTGAGCAGAAAAACAGTGCT AAAGAATATCGAGGCACTCTTCGTGTCACTTTCGATGCAGAAGCCATGAACAAAGAGTCTCCCATGGTGAGGTCAGCCAGGGATGATATG GATAGAGGAAAGCCTGACAAAGGCTTGAGCAGTGGGGGCAAAGGCTCTGAGAAGCAGGAGTCCAAAAACCCGAAACAAGAACTTCGGGGT CGTGGTCGTGGCATTCTGATTTTGCCTGCCCATACCACCCTATCTGTCAATTCAGCAGGTTCTCCAGAGTCCGCGCCTTTGGGACCTCGG CTTTTGTTTGGATCTGGTAGTAAGGGATCTCGGAGTTGGGGCCGTGGAGGCACCACACGCCGATTGTGGGACCCAAACAATCCTGATCAG AAACCTGCTCTAAAGACTCAGACGCCCCAGCTACATTTCTTGGACACTGATGATGAAGTCAGCCCTACATCTTGGGGTGACTCACGCCAG GCTCAGGCATCTTACTATAAGTTTCAAAACTCTGACAACCCCTATTATTACCCCCGGACACCAGGCCCTGCCTCCCAGTATCCCTATACG GGCTATAACCCTCTACAGTACCCAGTGGGCCCTACGAATGGTGTGTACCCAGGGCCTTACTACCCAGGCTACCCGACTCCGTCAGGACAG TATGTGTGTAGCCCTCTACCTACCAGCACCATGAGTCCCGAGGAGGTAGAGCAGCACATGAGGAACCTGCAGCAACAGGAGCTGCACAGG CTTCTCCGGGTGGCTGACAACCAGGAACTGCAGCTCAGCAACCTGCTCTCCAGGGACCGCATCAGTCCGGAGGGCCTGGAGAAGATGGCG CAACTCAGAGCTGAACTGCTGCAGCTATATGAGCGCTGTATTCTATTAGATATTGAGTTCTCTGATAATCAGAATGTGGATCAGATCCTG TGGAAGAATGCTTTCTATCAGGTGATTGAGAAGTTCAGGCAACTTGTCAAGGATCCGAATGTTGAGAACCCAGAACAGATTCGGAACAGA CTTTTGGAGCTCTTGGATGAGGGTAGTGACTTCTTTGATAGTTTGCTTCAGAAGCTGCAGGTTACTTACAAGTTCAAACTGGAAGACTAC ATGGATGGTCTTGCCATTCGCAGCAAGCCATTACGCAAGACAGTAAAATATGCCTTGATCAGTGCCCAGCGATGCATGATATGCCAAGGA GATATTGCTAGGTACCGGGAGCAAGCCAGTGATACAGCGAATTATGGGAAAGCACGCAGTTGGTACCTGAAGGCCCAGCACATTGCTCCC AAGAATGGGCGCCCCTATAACCAGTTGGCTTTGCTGGCAGTGTATACGAGGAGGAAGCTTGACGCTGTCTATTACTATATGCGCAGTTTA GCTGCCAGCAACCCTATCCTGACTGCCAAGGAGAGTCTCATGAGCTTGTTTGAAGAGACCAAGCGGAAGGCAGAACAGATGGAAAAGAAG CAACATGAGGAATTTGACCTGAGCCCTGACCAGTGGCGGAAAGGAAAGAAGTCTACTTTCCGGCATGTTGGAGATGACACCACTCGCCTG GAGATCTGGATTCATCCATCCCATCCACGGTCTTCCCAGGGCACTGAGTCTGGGAAGGATTCTGAGCAAGAGAATGGGCTGGGCAGCCTG AGTCCCAGTGATCTGAACAAAAGGTTCATCCTCAGTTTTCTCCATGCCCATGGGAAGCTGTTTACCCGGATTGGGATGGAGACATTCCCT GCAGTGGCTGAGAAGGTCCTCAAGGAGTTCCAGGTGTTACTGCAGCACAGCCCCTCTCCCATTGGAAGTACCCGCATGCTGCAGCTTATG ACCATCAATATGTTTGCAGTACACAACTCCCAGCTGAAAGTTCTCAACATCAGCACCTCGGTTCAGCTGGCAGCCTCCATGCCTTCAGGA TTCCAGCCTGCACAGACTCCAGACCCTACGGCCCCAGTCGCCTACTTCCCATACTTCAACAGGACCTACCTGGGGGTGGCCGCGTCACTC AACGGGGGCAATGTGCTGGCCACGTTCGTCCACATGCTGGTTCAGTGGATGGCAGATCTAGGCCTGGAGGTTGAAGAATCCACTGTGTAT TCACGCATGATTCAGGCAGCTGTGCAGCAGAGAGATACCCACCTGACCATCACCCCGACAGTGCTGGGGGAGAGGCACCTGCCGGACCAG CTGGCCTCAGTGACCAGAATCTCCTCCTCCGACCTCTCCCTGGGGCACGTGACCCGGGCTCTGTGCCGAGGCATTGTTCAGAACCTGCAC TCCATGCTTCCGATTCAGCAGCTCCAGGACTGGGGCGTGGAGAGGGTGATGGGCAGTGGGAGTGCGCTGTCCAGGAATGACGTGCTGAAG CAGGAGGTGCAGAGGGCTTTCCCTTTGCCCATGTCCTTTGGGCAGGATGTGGATGCAGCTGTCGGGGCAGCTCTGGTCATGCTCCGGAGA CACCTCAACCAGAAGGAATCTTAGACAGCAAACTCTTTCGCCAAACGACTGCTGTGAATTTTACCTGATTAACATTCCTGACACCATCTG TGGGTCATCCTTTCCCTGGACCGTTCAGTGGACAGCTTTCAAGCAGTGCTTGTTGTGAGGTCCCATCTCGGCCAAGAACTTACCTTCAGA ACATACTCTAATAATGCAGCCAGGAGCCGTCAGCCAGATCCCAAATGAGTGCCTTCCGAAATTGACCCACCTGGGAGCTATTTACAAATG TCCATGTGGGAGAGAGAGAGCATGAGAGCACAGTAGCCCAGCCTGCTGGTCAGCAGGCTCATCTGTGGTTCACCTGTAGACAGAGAGCAG ATCAATGTGTACTTCAGACACCAGAAAGTCTGGTGGCTTTGGTCCCAAGTGGGAAAAGAGAACTGCCCCATGCCCAGCTTGTGATTATCG TTTTTGGAGACCTGAAGCCCACACTCGGGTCGTATGGACTTCTGGAAAAGTTCTTGTCTCCTGGACTGAACCATGTGACCGGAGGCCCCT TTCCTAGTCTCATCCTCCCCTGGCTGCAGATGCTTAGCTGGGCCAGGGATTGACCCAAGCGCGATGCAGCAGGCAGGCTCAGAAGACGAT GCGGGGCTGTGTGCCGGCCTTCTTGCTGCATGTACTCAGCCTCAGGAGAGCTTGCTGCACCCAGGCCGCCCAGGTCTTCACAGCACAACT GCCTGGAAGGCAGGTTGCGAGAAGGAGAGGCGGATGGCATGAGCAGCAAGGGGGACCGATGCTGTGCAGCTCACACCACTCCAGAACCTG ACAAGGCACCAGCAGGACCCCTTGCCAGGAGCATGTCTGTGCAGCAGTGTTTTTGCCCCTGCACATTCCAGAAGCCCTCATGGGAAGGGA TGCAGCCAGGCAGACTCCTGCCAGATGGGGCAGGTAGTTTATTCAAAGAGAACTCTGTATCCCATAGGCCCAGGCTCTCCTTTCGCTTGG CGTGGGCTTTGCTGGCCCAGTGTGTGCTCCTGGCTCAGCAGAAACATCCATTTGAGTTGGCATCCCTGTAGGGATCCCAGAGCGTTGTAA GCCTTCTTGTGATTGGTAGGGATGGCTGTGGGGTGGCTTCCAGGAGGGGGCCACCATTGCCGCATCTACTTCTAGACTCCCAAAGGAGCC CAGGCTCAGGCAGGCCTGGCCCAGAGTCACGCTGGCAACCACGAGTTTGGGAAGCAGTCGTATTCTCTCTCTCTCTCTCTCTCTCTCTCT CAGTATCCATGACAGGTATGAAACATATTGTCTCTTTATAAATGTCATTTTACAAATTATGTGATTATCTGGAAGCTCTAAGATGAGAGC AAATGCCTGATCACTCTGGCCAAATGTCAGATACTAAAGCCCATTCTTGGCCGGGCATGTTGGCTCCCGCCTGTAATCCCAGCACTTTGG GAAGCCCAAGTGGGTGAATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGGGATACCCCGTCTCTACTAAAAATACAAGC CGGGCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAAAATCACTTGAACTCGGGAGGCAGAGGTTGCAGTGA GCTGAGATCGCGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCATAAATAAATACAAAGCCCATTCTTCCAGAGTCTTG TGCCTTAAATAAAACACACCTCTCTGCTGTGGGAAGACTGTGCAATGGCACAGCCGCAGAGCTTGGTTTGGGAGGTTGAAGTGCTCTGGG GAGAATTCGTAGATCATCCTCAGAAAAGCCTTGCCCTGGTGTTCTACCAGAAAAACGTCTCCCAATCACCCAGGAAAGCTGTCCACAGTA GTCCCCCCTTATCCACGGTGTCACTTTCCATGGGTTCAGTTATCTGCGGTCAACCACGGTCTGACAATATTAAATGGAAAATTCTTCAAA CAGTTCCCAAGTTTTCCCTTGTGCATTGTTCTGAGCAGTGTGATGGAGAGTCTCTGCCGTGCCATCTGGGATGCAAACCGTCCCTGTGTT CCCCACGTCCAGGCCGTAGATGCTCCCCGCCGGTCAGTCACTTAGTCGTCAGATCGCCCGTCCTGGTATCACAGTGCTTCTGTTCAGGTC AGTCTTTTTTTACTTCATTAGGGCCCCAAAGCACCAGAGTAGTGATGCTGGTAGTGATGCTGGCTGTTCGGATATGCCAAAGAGAAACCG >In-frame_ENST00000263073_ENST00000225519_TCGA-HC-8265-01B_SMG6_chr17_2139786_-_SHPK_chr17_3518831_length(amino acids)=1160AA_start in transcript=51_stop in transcript=3533 MAEGLERVRISASELRGILATLAPQAGSRENMKELKEARPRKDNRRPDLEIYKPGLSRLRNKPKIKEPPGSEEFKDEIVNDRDCSAVENG TQPVKDVCKELNNQEQNGPIDPENNRGQESFPRTAGQEDRSLKIIKRTKKPDLQIYQPGRRLQTVSKESASRVEEEEVLNQVEQLRVEED ECRGNVAKEEVANKPDRAEIEKSPGGGRVGAAKGEKGKRMGKGEGVRETHDDPARGRPGSAKRYSRSDKRRNRYRTRSTSSAGSNNSAEG AGLTDNGCRRRRQDRTKERPRLKKQVSVSSTDSLDEDRIDEPDGLGPRRSSERKRHLERNWSGRGEGEQKNSAKEYRGTLRVTFDAEAMN KESPMVRSARDDMDRGKPDKGLSSGGKGSEKQESKNPKQELRGRGRGILILPAHTTLSVNSAGSPESAPLGPRLLFGSGSKGSRSWGRGG TTRRLWDPNNPDQKPALKTQTPQLHFLDTDDEVSPTSWGDSRQAQASYYKFQNSDNPYYYPRTPGPASQYPYTGYNPLQYPVGPTNGVYP GPYYPGYPTPSGQYVCSPLPTSTMSPEEVEQHMRNLQQQELHRLLRVADNQELQLSNLLSRDRISPEGLEKMAQLRAELLQLYERCILLD IEFSDNQNVDQILWKNAFYQVIEKFRQLVKDPNVENPEQIRNRLLELLDEGSDFFDSLLQKLQVTYKFKLEDYMDGLAIRSKPLRKTVKY ALISAQRCMICQGDIARYREQASDTANYGKARSWYLKAQHIAPKNGRPYNQLALLAVYTRRKLDAVYYYMRSLAASNPILTAKESLMSLF EETKRKAEQMEKKQHEEFDLSPDQWRKGKKSTFRHVGDDTTRLEIWIHPSHPRSSQGTESGKDSEQENGLGSLSPSDLNKRFILSFLHAH GKLFTRIGMETFPAVAEKVLKEFQVLLQHSPSPIGSTRMLQLMTINMFAVHNSQLKVLNISTSVQLAASMPSGFQPAQTPDPTAPVAYFP YFNRTYLGVAASLNGGNVLATFVHMLVQWMADLGLEVEESTVYSRMIQAAVQQRDTHLTITPTVLGERHLPDQLASVTRISSSDLSLGHV -------------------------------------------------------------- >In-frame_ENST00000354901_ENST00000225519_TCGA-HC-8265-01B_SMG6_chr17_2139786_-_SHPK_chr17_3518831_length(transcript)=3352nt_BP=440nt GGACCCAGATACCCGTCAGAATTTCCAGGCCTTGGTTTGGTTTAGACATTTTAGAAGATGTTAACAGCAATAATTGTAAAAGACTTTGAG TGGCACGCATGGTGAACAGAAAGTACTAGATCCTGAAGAGGGGGGAAAGGCATTTCTGTGCTCTTCCTGGTAAAGTGTTTGAAAATGAAC ATTCAGAAGAAAACCTAAAGCACCTGAAATGCACAGGGGACGAGAATGAGAGCTGAACAAAAGGTTCATCCTCAGTTTTCTCCATGCCCA TGGGAAGCTGTTTACCCGGATTGGGATGGAGACATTCCCTGCAGTGGCTGAGAAGGTCCTCAAGGAGTTCCAGGTGTTACTGCAGCACAG CCCCTCTCCCATTGGAAGTACCCGCATGCTGCAGCTTATGACCATCAATATGTTTGCAGTACACAACTCCCAGCTGAAAGTTCTCAACAT CAGCACCTCGGTTCAGCTGGCAGCCTCCATGCCTTCAGGATTCCAGCCTGCACAGACTCCAGACCCTACGGCCCCAGTCGCCTACTTCCC ATACTTCAACAGGACCTACCTGGGGGTGGCCGCGTCACTCAACGGGGGCAATGTGCTGGCCACGTTCGTCCACATGCTGGTTCAGTGGAT GGCAGATCTAGGCCTGGAGGTTGAAGAATCCACTGTGTATTCACGCATGATTCAGGCAGCTGTGCAGCAGAGAGATACCCACCTGACCAT CACCCCGACAGTGCTGGGGGAGAGGCACCTGCCGGACCAGCTGGCCTCAGTGACCAGAATCTCCTCCTCCGACCTCTCCCTGGGGCACGT GACCCGGGCTCTGTGCCGAGGCATTGTTCAGAACCTGCACTCCATGCTTCCGATTCAGCAGCTCCAGGACTGGGGCGTGGAGAGGGTGAT GGGCAGTGGGAGTGCGCTGTCCAGGAATGACGTGCTGAAGCAGGAGGTGCAGAGGGCTTTCCCTTTGCCCATGTCCTTTGGGCAGGATGT GGATGCAGCTGTCGGGGCAGCTCTGGTCATGCTCCGGAGACACCTCAACCAGAAGGAATCTTAGACAGCAAACTCTTTCGCCAAACGACT GCTGTGAATTTTACCTGATTAACATTCCTGACACCATCTGTGGGTCATCCTTTCCCTGGACCGTTCAGTGGACAGCTTTCAAGCAGTGCT TGTTGTGAGGTCCCATCTCGGCCAAGAACTTACCTTCAGAACATACTCTAATAATGCAGCCAGGAGCCGTCAGCCAGATCCCAAATGAGT GCCTTCCGAAATTGACCCACCTGGGAGCTATTTACAAATGTCCATGTGGGAGAGAGAGAGCATGAGAGCACAGTAGCCCAGCCTGCTGGT CAGCAGGCTCATCTGTGGTTCACCTGTAGACAGAGAGCAGATCAATGTGTACTTCAGACACCAGAAAGTCTGGTGGCTTTGGTCCCAAGT GGGAAAAGAGAACTGCCCCATGCCCAGCTTGTGATTATCGTTTTTGGAGACCTGAAGCCCACACTCGGGTCGTATGGACTTCTGGAAAAG TTCTTGTCTCCTGGACTGAACCATGTGACCGGAGGCCCCTTTCCTAGTCTCATCCTCCCCTGGCTGCAGATGCTTAGCTGGGCCAGGGAT TGACCCAAGCGCGATGCAGCAGGCAGGCTCAGAAGACGATGCGGGGCTGTGTGCCGGCCTTCTTGCTGCATGTACTCAGCCTCAGGAGAG CTTGCTGCACCCAGGCCGCCCAGGTCTTCACAGCACAACTGCCTGGAAGGCAGGTTGCGAGAAGGAGAGGCGGATGGCATGAGCAGCAAG GGGGACCGATGCTGTGCAGCTCACACCACTCCAGAACCTGACAAGGCACCAGCAGGACCCCTTGCCAGGAGCATGTCTGTGCAGCAGTGT TTTTGCCCCTGCACATTCCAGAAGCCCTCATGGGAAGGGATGCAGCCAGGCAGACTCCTGCCAGATGGGGCAGGTAGTTTATTCAAAGAG AACTCTGTATCCCATAGGCCCAGGCTCTCCTTTCGCTTGGCGTGGGCTTTGCTGGCCCAGTGTGTGCTCCTGGCTCAGCAGAAACATCCA TTTGAGTTGGCATCCCTGTAGGGATCCCAGAGCGTTGTAAGCCTTCTTGTGATTGGTAGGGATGGCTGTGGGGTGGCTTCCAGGAGGGGG CCACCATTGCCGCATCTACTTCTAGACTCCCAAAGGAGCCCAGGCTCAGGCAGGCCTGGCCCAGAGTCACGCTGGCAACCACGAGTTTGG GAAGCAGTCGTATTCTCTCTCTCTCTCTCTCTCTCTCTCTCAGTATCCATGACAGGTATGAAACATATTGTCTCTTTATAAATGTCATTT TACAAATTATGTGATTATCTGGAAGCTCTAAGATGAGAGCAAATGCCTGATCACTCTGGCCAAATGTCAGATACTAAAGCCCATTCTTGG CCGGGCATGTTGGCTCCCGCCTGTAATCCCAGCACTTTGGGAAGCCCAAGTGGGTGAATCACCTGAGGTCAGGAGTTCAAGACCAGCCTG ACCAACATGGGGATACCCCGTCTCTACTAAAAATACAAGCCGGGCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGC AGGAAAATCACTTGAACTCGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTG TCTCATAAATAAATACAAAGCCCATTCTTCCAGAGTCTTGTGCCTTAAATAAAACACACCTCTCTGCTGTGGGAAGACTGTGCAATGGCA CAGCCGCAGAGCTTGGTTTGGGAGGTTGAAGTGCTCTGGGGAGAATTCGTAGATCATCCTCAGAAAAGCCTTGCCCTGGTGTTCTACCAG AAAAACGTCTCCCAATCACCCAGGAAAGCTGTCCACAGTAGTCCCCCCTTATCCACGGTGTCACTTTCCATGGGTTCAGTTATCTGCGGT CAACCACGGTCTGACAATATTAAATGGAAAATTCTTCAAACAGTTCCCAAGTTTTCCCTTGTGCATTGTTCTGAGCAGTGTGATGGAGAG TCTCTGCCGTGCCATCTGGGATGCAAACCGTCCCTGTGTTCCCCACGTCCAGGCCGTAGATGCTCCCCGCCGGTCAGTCACTTAGTCGTC AGATCGCCCGTCCTGGTATCACAGTGCTTCTGTTCAGGTCAGTCTTTTTTTACTTCATTAGGGCCCCAAAGCACCAGAGTAGTGATGCTG GTAGTGATGCTGGCTGTTCGGATATGCCAAAGAGAAACCGTAAGGTGCTTCCTTTAAGTGAAAAGATGGGAAGAAAACAGTCATATGCTG >In-frame_ENST00000354901_ENST00000225519_TCGA-HC-8265-01B_SMG6_chr17_2139786_-_SHPK_chr17_3518831_length(amino acids)=273AA_start in transcript=232_stop in transcript=1053 MNKRFILSFLHAHGKLFTRIGMETFPAVAEKVLKEFQVLLQHSPSPIGSTRMLQLMTINMFAVHNSQLKVLNISTSVQLAASMPSGFQPA QTPDPTAPVAYFPYFNRTYLGVAASLNGGNVLATFVHMLVQWMADLGLEVEESTVYSRMIQAAVQQRDTHLTITPTVLGERHLPDQLASV TRISSSDLSLGHVTRALCRGIVQNLHSMLPIQQLQDWGVERVMGSGSALSRNDVLKQEVQRAFPLPMSFGQDVDAAVGAALVMLRRHLNQ -------------------------------------------------------------- >In-frame_ENST00000536871_ENST00000225519_TCGA-HC-8265-01B_SMG6_chr17_2139786_-_SHPK_chr17_3518831_length(transcript)=3299nt_BP=387nt ATACCAGAGAGTTTAGGGACTGTGAAGGTTTCAGGAAATTTGTTGAGTATTTAGAAAAGCCGATGGTTTCAGAGAGAAACTTTGATATTA GCTTGAACACAGTTATTGCCAGGGGTGAGGAAATAGCATACCAAAGCATAATAACTCATAGTGATTTATCCAAAACTTGAGTTGTTTGCA TCTCTGGACCCTGAAAACTCCTTTATCTTGAATTTGTTCAAAATTGCAGGATACCGGGAAGGATGGAGACATTCCCTGCAGTGGCTGAGA AGGTCCTCAAGGAGTTCCAGGTGTTACTGCAGCACAGCCCCTCTCCCATTGGAAGTACCCGCATGCTGCAGCTTATGACCATCAATATGT TTGCAGTACACAACTCCCAGCTGAAAGTTCTCAACATCAGCACCTCGGTTCAGCTGGCAGCCTCCATGCCTTCAGGATTCCAGCCTGCAC AGACTCCAGACCCTACGGCCCCAGTCGCCTACTTCCCATACTTCAACAGGACCTACCTGGGGGTGGCCGCGTCACTCAACGGGGGCAATG TGCTGGCCACGTTCGTCCACATGCTGGTTCAGTGGATGGCAGATCTAGGCCTGGAGGTTGAAGAATCCACTGTGTATTCACGCATGATTC AGGCAGCTGTGCAGCAGAGAGATACCCACCTGACCATCACCCCGACAGTGCTGGGGGAGAGGCACCTGCCGGACCAGCTGGCCTCAGTGA CCAGAATCTCCTCCTCCGACCTCTCCCTGGGGCACGTGACCCGGGCTCTGTGCCGAGGCATTGTTCAGAACCTGCACTCCATGCTTCCGA TTCAGCAGCTCCAGGACTGGGGCGTGGAGAGGGTGATGGGCAGTGGGAGTGCGCTGTCCAGGAATGACGTGCTGAAGCAGGAGGTGCAGA GGGCTTTCCCTTTGCCCATGTCCTTTGGGCAGGATGTGGATGCAGCTGTCGGGGCAGCTCTGGTCATGCTCCGGAGACACCTCAACCAGA AGGAATCTTAGACAGCAAACTCTTTCGCCAAACGACTGCTGTGAATTTTACCTGATTAACATTCCTGACACCATCTGTGGGTCATCCTTT CCCTGGACCGTTCAGTGGACAGCTTTCAAGCAGTGCTTGTTGTGAGGTCCCATCTCGGCCAAGAACTTACCTTCAGAACATACTCTAATA ATGCAGCCAGGAGCCGTCAGCCAGATCCCAAATGAGTGCCTTCCGAAATTGACCCACCTGGGAGCTATTTACAAATGTCCATGTGGGAGA GAGAGAGCATGAGAGCACAGTAGCCCAGCCTGCTGGTCAGCAGGCTCATCTGTGGTTCACCTGTAGACAGAGAGCAGATCAATGTGTACT TCAGACACCAGAAAGTCTGGTGGCTTTGGTCCCAAGTGGGAAAAGAGAACTGCCCCATGCCCAGCTTGTGATTATCGTTTTTGGAGACCT GAAGCCCACACTCGGGTCGTATGGACTTCTGGAAAAGTTCTTGTCTCCTGGACTGAACCATGTGACCGGAGGCCCCTTTCCTAGTCTCAT CCTCCCCTGGCTGCAGATGCTTAGCTGGGCCAGGGATTGACCCAAGCGCGATGCAGCAGGCAGGCTCAGAAGACGATGCGGGGCTGTGTG CCGGCCTTCTTGCTGCATGTACTCAGCCTCAGGAGAGCTTGCTGCACCCAGGCCGCCCAGGTCTTCACAGCACAACTGCCTGGAAGGCAG GTTGCGAGAAGGAGAGGCGGATGGCATGAGCAGCAAGGGGGACCGATGCTGTGCAGCTCACACCACTCCAGAACCTGACAAGGCACCAGC AGGACCCCTTGCCAGGAGCATGTCTGTGCAGCAGTGTTTTTGCCCCTGCACATTCCAGAAGCCCTCATGGGAAGGGATGCAGCCAGGCAG ACTCCTGCCAGATGGGGCAGGTAGTTTATTCAAAGAGAACTCTGTATCCCATAGGCCCAGGCTCTCCTTTCGCTTGGCGTGGGCTTTGCT GGCCCAGTGTGTGCTCCTGGCTCAGCAGAAACATCCATTTGAGTTGGCATCCCTGTAGGGATCCCAGAGCGTTGTAAGCCTTCTTGTGAT TGGTAGGGATGGCTGTGGGGTGGCTTCCAGGAGGGGGCCACCATTGCCGCATCTACTTCTAGACTCCCAAAGGAGCCCAGGCTCAGGCAG GCCTGGCCCAGAGTCACGCTGGCAACCACGAGTTTGGGAAGCAGTCGTATTCTCTCTCTCTCTCTCTCTCTCTCTCTCAGTATCCATGAC AGGTATGAAACATATTGTCTCTTTATAAATGTCATTTTACAAATTATGTGATTATCTGGAAGCTCTAAGATGAGAGCAAATGCCTGATCA CTCTGGCCAAATGTCAGATACTAAAGCCCATTCTTGGCCGGGCATGTTGGCTCCCGCCTGTAATCCCAGCACTTTGGGAAGCCCAAGTGG GTGAATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGGGATACCCCGTCTCTACTAAAAATACAAGCCGGGCGTGGTGGC GCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAAAATCACTTGAACTCGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCGC CATTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCATAAATAAATACAAAGCCCATTCTTCCAGAGTCTTGTGCCTTAAATAAA ACACACCTCTCTGCTGTGGGAAGACTGTGCAATGGCACAGCCGCAGAGCTTGGTTTGGGAGGTTGAAGTGCTCTGGGGAGAATTCGTAGA TCATCCTCAGAAAAGCCTTGCCCTGGTGTTCTACCAGAAAAACGTCTCCCAATCACCCAGGAAAGCTGTCCACAGTAGTCCCCCCTTATC CACGGTGTCACTTTCCATGGGTTCAGTTATCTGCGGTCAACCACGGTCTGACAATATTAAATGGAAAATTCTTCAAACAGTTCCCAAGTT TTCCCTTGTGCATTGTTCTGAGCAGTGTGATGGAGAGTCTCTGCCGTGCCATCTGGGATGCAAACCGTCCCTGTGTTCCCCACGTCCAGG CCGTAGATGCTCCCCGCCGGTCAGTCACTTAGTCGTCAGATCGCCCGTCCTGGTATCACAGTGCTTCTGTTCAGGTCAGTCTTTTTTTAC TTCATTAGGGCCCCAAAGCACCAGAGTAGTGATGCTGGTAGTGATGCTGGCTGTTCGGATATGCCAAAGAGAAACCGTAAGGTGCTTCCT >In-frame_ENST00000536871_ENST00000225519_TCGA-HC-8265-01B_SMG6_chr17_2139786_-_SHPK_chr17_3518831_length(amino acids)=252AA_start in transcript=242_stop in transcript=1000 METFPAVAEKVLKEFQVLLQHSPSPIGSTRMLQLMTINMFAVHNSQLKVLNISTSVQLAASMPSGFQPAQTPDPTAPVAYFPYFNRTYLG VAASLNGGNVLATFVHMLVQWMADLGLEVEESTVYSRMIQAAVQQRDTHLTITPTVLGERHLPDQLASVTRISSSDLSLGHVTRALCRGI -------------------------------------------------------------- |
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Fusion Gene PPI Analysis for SMG6-SHPK |
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 |
Hgene | SMG6 | chr17:2139786 | chr17:3518831 | ENST00000263073 | - | 10 | 19 | 114_503 | 956.3333333333334 | 1420.0 | telomeric DNA |
Hgene | SMG6 | chr17:2139786 | chr17:3518831 | ENST00000544865 | - | 10 | 19 | 114_503 | 925.3333333333334 | 1389.0 | telomeric DNA |
- Lost PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
Hgene | SMG6 | chr17:2139786 | chr17:3518831 | ENST00000354901 | - | 3 | 12 | 114_503 | 48.333333333333336 | 512.0 | telomeric DNA |
Hgene | SMG6 | chr17:2139786 | chr17:3518831 | ENST00000536871 | - | 2 | 11 | 114_503 | 48.333333333333336 | 512.0 | telomeric DNA |
- 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 SMG6-SHPK |
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 SMG6-SHPK |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | SHPK | C1291373 | Deficiency of sedoheptulokinase | 2 | GENOMICS_ENGLAND;ORPHANET |