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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:TBC1D8-SCN7A (FusionGDB2 ID:HG11138TG6332) |
Fusion Gene Summary for TBC1D8-SCN7A |
Fusion gene summary |
Fusion gene information | Fusion gene name: TBC1D8-SCN7A | Fusion gene ID: hg11138tg6332 | Hgene | Tgene | Gene symbol | TBC1D8 | SCN7A | Gene ID | 11138 | 6332 |
Gene name | TBC1 domain family member 8 | sodium voltage-gated channel alpha subunit 7 | |
Synonyms | AD3|GRAMD8|HBLP1|TBC1D8A|VRP | NaG|Nav2.1|Nav2.2|SCN6A | |
Cytomap | ('TBC1D8')('SCN7A') 2q11.2 | 2q24.3 | |
Type of gene | protein-coding | protein-coding | |
Description | TBC1 domain family member 8BUB2-like protein 1TBC1 domain family, member 8 (with GRAM domain)TBC1 domain family, member 8Avascular Rab-GAP/TBC-containing protein | sodium channel protein type 7 subunit alphaputative voltage-gated sodium channel subunit alpha Naxsodium channel protein cardiac and skeletal muscle subunit alphasodium channel protein type VII subunit alphasodium channel, voltage-gated, type VI, alph | |
Modification date | 20200313 | 20200313 | |
UniProtAcc | . | . | |
Ensembl transtripts involved in fusion gene | ENST00000376840, ENST00000409318, ENST00000462819, | ||
Fusion gene scores | * DoF score | 15 X 16 X 6=1440 | 4 X 4 X 3=48 |
# samples | 18 | 4 | |
** MAII score | log2(18/1440*10)=-3 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: TBC1D8 [Title/Abstract] AND SCN7A [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | TBC1D8(101643844)-SCN7A(167304218), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. | TBC1D8-SCN7A seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. TBC1D8-SCN7A seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. |
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
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 |
Fusion gene breakpoints across TBC1D8 (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 SCN7A (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 | Non-Cancer | 257N | TBC1D8 | chr2 | 101643844 | - | SCN7A | chr2 | 167304218 | - |
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Fusion Gene ORF analysis for TBC1D8-SCN7A |
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 | ENST00000376840 | ENST00000409855 | TBC1D8 | chr2 | 101643844 | - | SCN7A | chr2 | 167304218 | - |
In-frame | ENST00000409318 | ENST00000409855 | TBC1D8 | chr2 | 101643844 | - | SCN7A | chr2 | 167304218 | - |
intron-3CDS | ENST00000462819 | ENST00000409855 | TBC1D8 | chr2 | 101643844 | - | SCN7A | chr2 | 167304218 | - |
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) |
ENST00000376840 | TBC1D8 | chr2 | 101643844 | - | ENST00000409855 | SCN7A | chr2 | 167304218 | - | 8241 | 2475 | 0 | 6233 | 2077 |
ENST00000409318 | TBC1D8 | chr2 | 101643844 | - | ENST00000409855 | SCN7A | chr2 | 167304218 | - | 8417 | 2651 | 131 | 6409 | 2092 |
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 |
ENST00000376840 | ENST00000409855 | TBC1D8 | chr2 | 101643844 | - | SCN7A | chr2 | 167304218 | - | 0.000257165 | 0.9997428 |
ENST00000409318 | ENST00000409855 | TBC1D8 | chr2 | 101643844 | - | SCN7A | chr2 | 167304218 | - | 0.000288132 | 0.9997118 |
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Fusion Genomic Features for TBC1D8-SCN7A |
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. |
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Fusion Protein Features for TBC1D8-SCN7A |
Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr2:101643844/chr2:167304218) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
. | . |
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. | FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. |
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 | TBC1D8 | chr2:101643844 | chr2:167304218 | ENST00000376840 | - | 15 | 20 | 145_212 | 825 | 1141.0 | Domain | Note=GRAM 1 |
Hgene | TBC1D8 | chr2:101643844 | chr2:167304218 | ENST00000376840 | - | 15 | 20 | 285_353 | 825 | 1141.0 | Domain | Note=GRAM 2 |
Hgene | TBC1D8 | chr2:101643844 | chr2:167304218 | ENST00000376840 | - | 15 | 20 | 505_692 | 825 | 1141.0 | Domain | Rab-GAP TBC |
Tgene | SCN7A | chr2:101643844 | chr2:167304218 | ENST00000409855 | 9 | 25 | 1129_1150 | 430 | 1683.0 | Intramembrane | Pore-forming | |
Tgene | SCN7A | chr2:101643844 | chr2:167304218 | ENST00000409855 | 9 | 25 | 1420_1442 | 430 | 1683.0 | Intramembrane | Pore-forming | |
Tgene | SCN7A | chr2:101643844 | chr2:167304218 | ENST00000409855 | 9 | 25 | 674_694 | 430 | 1683.0 | Intramembrane | Pore-forming | |
Tgene | SCN7A | chr2:101643844 | chr2:167304218 | ENST00000409855 | 9 | 25 | 1233_1531 | 430 | 1683.0 | Repeat | IV | |
Tgene | SCN7A | chr2:101643844 | chr2:167304218 | ENST00000409855 | 9 | 25 | 487_758 | 430 | 1683.0 | Repeat | II | |
Tgene | SCN7A | chr2:101643844 | chr2:167304218 | ENST00000409855 | 9 | 25 | 916_1224 | 430 | 1683.0 | Repeat | III | |
Tgene | SCN7A | chr2:101643844 | chr2:167304218 | ENST00000409855 | 9 | 25 | 1019_1021 | 430 | 1683.0 | Topological domain | Extracellular | |
Tgene | SCN7A | chr2:101643844 | chr2:167304218 | ENST00000409855 | 9 | 25 | 1041_1057 | 430 | 1683.0 | Topological domain | Cytoplasmic | |
Tgene | SCN7A | chr2:101643844 | chr2:167304218 | ENST00000409855 | 9 | 25 | 1078_1128 | 430 | 1683.0 | Topological domain | Extracellular | |
Tgene | SCN7A | chr2:101643844 | chr2:167304218 | ENST00000409855 | 9 | 25 | 1151_1167 | 430 | 1683.0 | Topological domain | Extracellular | |
Tgene | SCN7A | chr2:101643844 | chr2:167304218 | ENST00000409855 | 9 | 25 | 1190_1252 | 430 | 1683.0 | Topological domain | Cytoplasmic | |
Tgene | SCN7A | chr2:101643844 | chr2:167304218 | ENST00000409855 | 9 | 25 | 1271_1281 | 430 | 1683.0 | Topological domain | Extracellular | |
Tgene | SCN7A | chr2:101643844 | chr2:167304218 | ENST00000409855 | 9 | 25 | 1301_1312 | 430 | 1683.0 | Topological domain | Cytoplasmic | |
Tgene | SCN7A | chr2:101643844 | chr2:167304218 | ENST00000409855 | 9 | 25 | 1331_1343 | 430 | 1683.0 | Topological domain | Extracellular | |
Tgene | SCN7A | chr2:101643844 | chr2:167304218 | ENST00000409855 | 9 | 25 | 1361_1379 | 430 | 1683.0 | Topological domain | Cytoplasmic | |
Tgene | SCN7A | chr2:101643844 | chr2:167304218 | ENST00000409855 | 9 | 25 | 1398_1419 | 430 | 1683.0 | Topological domain | Extracellular | |
Tgene | SCN7A | chr2:101643844 | chr2:167304218 | ENST00000409855 | 9 | 25 | 1443_1472 | 430 | 1683.0 | Topological domain | Extracellular | |
Tgene | SCN7A | chr2:101643844 | chr2:167304218 | ENST00000409855 | 9 | 25 | 1496_1682 | 430 | 1683.0 | Topological domain | Cytoplasmic | |
Tgene | SCN7A | chr2:101643844 | chr2:167304218 | ENST00000409855 | 9 | 25 | 525_535 | 430 | 1683.0 | Topological domain | Extracellular | |
Tgene | SCN7A | chr2:101643844 | chr2:167304218 | ENST00000409855 | 9 | 25 | 556_569 | 430 | 1683.0 | Topological domain | Cytoplasmic | |
Tgene | SCN7A | chr2:101643844 | chr2:167304218 | ENST00000409855 | 9 | 25 | 590_591 | 430 | 1683.0 | Topological domain | Extracellular | |
Tgene | SCN7A | chr2:101643844 | chr2:167304218 | ENST00000409855 | 9 | 25 | 610_625 | 430 | 1683.0 | Topological domain | Cytoplasmic | |
Tgene | SCN7A | chr2:101643844 | chr2:167304218 | ENST00000409855 | 9 | 25 | 645_673 | 430 | 1683.0 | Topological domain | Extracellular | |
Tgene | SCN7A | chr2:101643844 | chr2:167304218 | ENST00000409855 | 9 | 25 | 695_707 | 430 | 1683.0 | Topological domain | Extracellular | |
Tgene | SCN7A | chr2:101643844 | chr2:167304218 | ENST00000409855 | 9 | 25 | 728_935 | 430 | 1683.0 | Topological domain | Cytoplasmic | |
Tgene | SCN7A | chr2:101643844 | chr2:167304218 | ENST00000409855 | 9 | 25 | 954_966 | 430 | 1683.0 | Topological domain | Extracellular | |
Tgene | SCN7A | chr2:101643844 | chr2:167304218 | ENST00000409855 | 9 | 25 | 986_999 | 430 | 1683.0 | Topological domain | Cytoplasmic | |
Tgene | SCN7A | chr2:101643844 | chr2:167304218 | ENST00000409855 | 9 | 25 | 1000_1018 | 430 | 1683.0 | Transmembrane | Helical%3B Name%3DS3 of repeat III | |
Tgene | SCN7A | chr2:101643844 | chr2:167304218 | ENST00000409855 | 9 | 25 | 1022_1040 | 430 | 1683.0 | Transmembrane | Helical%3B Name%3DS4 of repeat III | |
Tgene | SCN7A | chr2:101643844 | chr2:167304218 | ENST00000409855 | 9 | 25 | 1058_1077 | 430 | 1683.0 | Transmembrane | Helical%3B Name%3DS5 of repeat III | |
Tgene | SCN7A | chr2:101643844 | chr2:167304218 | ENST00000409855 | 9 | 25 | 1168_1189 | 430 | 1683.0 | Transmembrane | Helical%3B Name%3DS6 of repeat III | |
Tgene | SCN7A | chr2:101643844 | chr2:167304218 | ENST00000409855 | 9 | 25 | 1253_1270 | 430 | 1683.0 | Transmembrane | Helical%3B Name%3DS1 of repeat IV | |
Tgene | SCN7A | chr2:101643844 | chr2:167304218 | ENST00000409855 | 9 | 25 | 1282_1300 | 430 | 1683.0 | Transmembrane | Helical%3B Name%3DS2 of repeat IV | |
Tgene | SCN7A | chr2:101643844 | chr2:167304218 | ENST00000409855 | 9 | 25 | 1313_1330 | 430 | 1683.0 | Transmembrane | Helical%3B Name%3DS3 of repeat IV | |
Tgene | SCN7A | chr2:101643844 | chr2:167304218 | ENST00000409855 | 9 | 25 | 1344_1360 | 430 | 1683.0 | Transmembrane | Helical%3B Name%3DS4 of repeat IV | |
Tgene | SCN7A | chr2:101643844 | chr2:167304218 | ENST00000409855 | 9 | 25 | 1380_1397 | 430 | 1683.0 | Transmembrane | Helical%3B Name%3DS5 of repeat IV | |
Tgene | SCN7A | chr2:101643844 | chr2:167304218 | ENST00000409855 | 9 | 25 | 1473_1495 | 430 | 1683.0 | Transmembrane | Helical%3B Name%3DS6 of repeat IV | |
Tgene | SCN7A | chr2:101643844 | chr2:167304218 | ENST00000409855 | 9 | 25 | 506_524 | 430 | 1683.0 | Transmembrane | Helical%3B Name%3DS1 of repeat II | |
Tgene | SCN7A | chr2:101643844 | chr2:167304218 | ENST00000409855 | 9 | 25 | 536_555 | 430 | 1683.0 | Transmembrane | Helical%3B Name%3DS2 of repeat II | |
Tgene | SCN7A | chr2:101643844 | chr2:167304218 | ENST00000409855 | 9 | 25 | 570_589 | 430 | 1683.0 | Transmembrane | Helical%3B Name%3DS3 of repeat II | |
Tgene | SCN7A | chr2:101643844 | chr2:167304218 | ENST00000409855 | 9 | 25 | 592_609 | 430 | 1683.0 | Transmembrane | Helical%3B Name%3DS4 of repeat II | |
Tgene | SCN7A | chr2:101643844 | chr2:167304218 | ENST00000409855 | 9 | 25 | 626_644 | 430 | 1683.0 | Transmembrane | Helical%3B Name%3DS5 of repeat II | |
Tgene | SCN7A | chr2:101643844 | chr2:167304218 | ENST00000409855 | 9 | 25 | 708_727 | 430 | 1683.0 | Transmembrane | Helical%3B Name%3DS6 of repeat II | |
Tgene | SCN7A | chr2:101643844 | chr2:167304218 | ENST00000409855 | 9 | 25 | 936_953 | 430 | 1683.0 | Transmembrane | Helical%3B Name%3DS1 of repeat III | |
Tgene | SCN7A | chr2:101643844 | chr2:167304218 | ENST00000409855 | 9 | 25 | 967_985 | 430 | 1683.0 | Transmembrane | Helical%3B Name%3DS2 of repeat III |
- 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 |
Tgene | SCN7A | chr2:101643844 | chr2:167304218 | ENST00000409855 | 9 | 25 | 339_363 | 430 | 1683.0 | Intramembrane | Pore-forming | |
Tgene | SCN7A | chr2:101643844 | chr2:167304218 | ENST00000409855 | 9 | 25 | 100_401 | 430 | 1683.0 | Repeat | I | |
Tgene | SCN7A | chr2:101643844 | chr2:167304218 | ENST00000409855 | 9 | 25 | 138_144 | 430 | 1683.0 | Topological domain | Extracellular | |
Tgene | SCN7A | chr2:101643844 | chr2:167304218 | ENST00000409855 | 9 | 25 | 166_179 | 430 | 1683.0 | Topological domain | Cytoplasmic | |
Tgene | SCN7A | chr2:101643844 | chr2:167304218 | ENST00000409855 | 9 | 25 | 198_203 | 430 | 1683.0 | Topological domain | Extracellular | |
Tgene | SCN7A | chr2:101643844 | chr2:167304218 | ENST00000409855 | 9 | 25 | 1_118 | 430 | 1683.0 | Topological domain | Cytoplasmic | |
Tgene | SCN7A | chr2:101643844 | chr2:167304218 | ENST00000409855 | 9 | 25 | 221_239 | 430 | 1683.0 | Topological domain | Cytoplasmic | |
Tgene | SCN7A | chr2:101643844 | chr2:167304218 | ENST00000409855 | 9 | 25 | 260_338 | 430 | 1683.0 | Topological domain | Extracellular | |
Tgene | SCN7A | chr2:101643844 | chr2:167304218 | ENST00000409855 | 9 | 25 | 364_370 | 430 | 1683.0 | Topological domain | Extracellular | |
Tgene | SCN7A | chr2:101643844 | chr2:167304218 | ENST00000409855 | 9 | 25 | 392_505 | 430 | 1683.0 | Topological domain | Cytoplasmic | |
Tgene | SCN7A | chr2:101643844 | chr2:167304218 | ENST00000409855 | 9 | 25 | 119_137 | 430 | 1683.0 | Transmembrane | Helical%3B Name%3DS1 of repeat I | |
Tgene | SCN7A | chr2:101643844 | chr2:167304218 | ENST00000409855 | 9 | 25 | 145_165 | 430 | 1683.0 | Transmembrane | Helical%3B Name%3DS2 of repeat I | |
Tgene | SCN7A | chr2:101643844 | chr2:167304218 | ENST00000409855 | 9 | 25 | 180_197 | 430 | 1683.0 | Transmembrane | Helical%3B Name%3DS3 of repeat I | |
Tgene | SCN7A | chr2:101643844 | chr2:167304218 | ENST00000409855 | 9 | 25 | 204_220 | 430 | 1683.0 | Transmembrane | Helical%3B Name%3DS4 of repeat I | |
Tgene | SCN7A | chr2:101643844 | chr2:167304218 | ENST00000409855 | 9 | 25 | 240_259 | 430 | 1683.0 | Transmembrane | Helical%3B Name%3DS5 of repeat I | |
Tgene | SCN7A | chr2:101643844 | chr2:167304218 | ENST00000409855 | 9 | 25 | 371_391 | 430 | 1683.0 | Transmembrane | Helical%3B Name%3DS6 of repeat I |
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Fusion Gene Sequence for TBC1D8-SCN7A |
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. |
>89420_89420_1_TBC1D8-SCN7A_TBC1D8_chr2_101643844_ENST00000376840_SCN7A_chr2_167304218_ENST00000409855_length(transcript)=8241nt_BP=2475nt ATGTGGCTCAAGCCCGAGGAGGTGCTGCTGAAGAACGCGCTGAAGCTCTGGGTGACCCAGAAGAGCAGCTGCTACTTCATCCTGCAGCGG CGCCGCGGGCACGGCGAGGGGGGCGGCCGCCTCACCGGTCGCCTGGTCGGCGCTCTGGATGCAGTGTTGGATTCCAATGCACGGGTCGCT CCATTTCGAATTCTGCTTCAAGTTCCCGGCTCCCAGGTTTATTCTCCCATAGCATGTGGTGCAACATTAGAGGAAATCAATCAGCACTGG GACTGGCTGGAACAAAATCTCCTCCACACCTTGTCTGTCTTTGATAATAAAGATGACATTGCCAGTTTTGTCAAAGGGAAGGTAAAGGCT CTGATAGCCGAGGAGACCAGCAGCAGGCTCGCCGAGCAGGAGGAGGAACCCGAGAAATTCCGAGAAGCCCTGGTGAAGTTCGAGGCCAGG TTCAACTTCCCCGAGGCGGAGAAGCTGGTCACCTACTACTCCTGCTGCTGTTGGAAGGGCAGGGTGCCCCGCCAGGGCTGGCTGTACCTC AGCATCAACCACCTCTGCTTCTACTCCTTCTTCCTGGGCAAGGAACTTAAACTTGTGGTTCCGTGGGTTGATATCCAGAAATTAGAAAGA ACGTCCAATGTCTTTCTGACGGATACCATCCGAATCACCACGCAGAATAAGGAGCGTGACTTCTCCATGTTCCTGAACCTGGATGAGGTG TTTAAGGTCATGGAGCAGCTGGCCGACGTGACGCTGCGAAGGCTGCTGGATAATGAGGTCTTTGACCTCGACCCCGATCTGCAGGAGCCG AGCCAGATCACCAAGAGGGACCTGGAAGCCAGAGCACAGAATGAGTTCTTCCGGGCTTTCTTCAGGTTGCCGAGGAAGGAGAAGCTGCAC GCGGTTGTGGACTGTTCGCTCTGGACGCCGTTCAGTCGCTGTCACACCACGGGGCGGATGTTCGCCTCTGACAGCTACATCTGCTTTGCC AGCAGAGAAGATGGCTGCTGTAAGATCATCCTGCCACTCAGAGAGGTGGTGAGCATCGAGAAGATGGAGGACACGAGCCTGCTGCCGCAT CCCATCATTGTCAGTATCAGAAGCAAGGTGGCCTTCCAGTTCATTGAGCTCCGGGACCGAGACAGCCTGGTGGAGGCGCTGCTTGCGAGG TTGAAGCAGGTCCACGCCAACCACCCCGTGCACTACGACACCTCTGCGGATGATGACATGGCTTCACTCGTGTTTCATTCAACAAGCATG TGCAGTGACCACAGATTTGGGGATCTTGAAATGATGTCTTCTCAAAATAGCGAGGAGAGTGAGAAAGAGAAGAGCCCGCTGATGCACCCC GATGCCCTGGTCACCGCCTTCCAGCAGTCAGGCAGCCAGAGCCCTGACTCCCGAATGTCCAGAGAACAGATAAAAATAAGCCTGTGGAAT GACCACTTTGTGGAATACGGCAGAACCGTGTGTATGTTTCGCACAGAGAAGATTCGGAAGCTCGTAGCCATGGGCATCCCTGAATCTTTG CGAGGGAGACTCTGGCTTCTCTTCTCAGATGCGGTGACGGATCTTGCCTCACACCCTGGTTACTACGGGAATCTGGTGGAGGAGTCCCTG GGGAAATGCTGCCTGGTAACCGAGGAGATAGAACGAGACCTGCACCGCTCCCTGCCAGAGCACCCCGCCTTCCAGAACGAAACGGGAATT GCTGCTTTGAGGAGAGTCTTGACGGCCTATGCCCACCGGAACCCCAAGATTGGATACTGCCAGTCCATGAACATCCTGACCTCCGTGCTG CTGCTGTACACCAAGGAGGAGGAAGCCTTCTGGCTGTTGGTTGCTGTGTGTGAGCGGATGCTGCCCGATTACTTCAACCACCGAGTGATC GGGGCACAAGTTGACCAGTCTGTCTTCGAGGAGCTCATCAAGGGTCATCTCCCAGAGCTGGCAGAGCACATGAACGACCTCTCAGCCCTG GCGTCCGTCTCTCTCTCGTGGTTCCTGACCCTGTTCCTCAGCATCATGCCTCTAGAGAGTGCGGTGAATGTGGTAGACTGCTTCTTCTAT GATGGCATCAAAGCCATCTTCCAGCTGGGACTGGCTGTGCTTGAGGCCAATGCTGAGGACCTGTGCAGCAGCAAGGATGATGGCCAGGCC TTGATGATCCTCAGCAGGTTTCTAGATCACATTAAGAATGAGGACAGCCCAGGGCCCCCAGTTGGCAGCCACCATGCCTTTTTCTCCGAC GACCAGGAGCCCTACCCTGTGACTGATATTTCGGACCTGATCCGGGATTCCTATGAGAAATTTGGAGACCAGTCTGTGGAGCAGATCGAG CACCTACGTTACAAGCACAGGATCAGGGTCCTCCAAGGCCACGAGGACACCACAAAGCAGAACGTGCTTCGAGTCGTTATCCCGGAAGTC TCAATTCTTCCTGAAGACCTAGAGGAGCTCTACGACTTATTCAAGGCCAAGACCATACAAATAGAAATGAAGAAAAGGTCACCAATTTCC ACAGACACATCATTGGATGTGTTGGAAGATGCTACTCTCAGACATAAGGAAGAACTTGAAAAATCCAAGAAGATATGCCCATTATACTGG TATAAGTTTGCTAAAACTTTCTTGATCTGGAATTGTTCTCCCTGTTGGTTAAAATTGAAAGAGTTTGTCCATAGGATTATAATGGCACCA TTTACTGATCTTTTCCTTATCATATGCATAATTTTAAACGTATGTTTTCTGACCTTGGAGCATTATCCAATGAGTAAACAAACTAACACT CTTCTCAACATTGGAAACCTGGTTTTCATTGGAATTTTCACAGCAGAAATGATTTTTAAAATAATTGCAATGCATCCATATGGGTATTTC CAAGTAGGTTGGAACATTTTTGATAGCATGATAGTGTTCCATGGTTTAATAGAACTTTGTCTAGCAAATGTTGCAGGAATGGCTCTTCTT CGATTATTCAGGATGTTAAGAATTTTCAAGTTGGGAAAGTATTGGCCAACATTCCAGATTTTGATGTGGTCTCTTAGTAACTCATGGGTG GCCCTGAAAGACTTGGTCCTGTTGTTGTTCACATTCATCTTCTTTTCTGCTGCATTCGGCATGAAGCTGTTTGGTAAGAATTATGAAGAA TTTGTCTGCCACATAGACAAAGACTGTCAACTCCCACGCTGGCACATGCATGACTTTTTCCACTCCTTCCTGAATGTGTTCCGAATTCTC TGTGGAGAGTGGGTAGAGACCTTGTGGGACTGTATGGAGGTTGCAGGCCAATCCTGGTGTATTCCTTTTTACCTGATGGTCATTTTAATT GGAAATTTACTGGTACTTTACCTGTTTCTGGCATTGGTGAGCTCATTTAGTTCATGCAAGGATGTAACAGCTGAAGAGAATAATGAAGCA AAAAATCTCCAGCTTGCAGTGGCAAGAATTAAAAAAGGAATAAACTATGTGCTTCTTAAAATACTATGCAAAACACAAAATGTCCCAAAG GACACAATGGACCATGTAAATGAGGTATATGTTAAAGAAGATATTTCTGACCATACCCTTTCTGAATTGAGCAACACCCAAGATTTTCTC AAAGATAAGGAAAAAAGCAGTGGCACAGAGAAAAACGCTACTGAAAATGAGAGCCAATCACTTATCCCCAGTCCTAGTGTCTCAGAAACT GTACCAATTGCTTCAGGAGAATCTGATATAGAAAATCTGGATAATAAGGAGATTCAGAGTAAGTCTGGTGATGGAGGCAGCAAAGAGAAA ATAAAGCAATCTAGCTCATCTGAATGCAGTACTGTTGATATTGCTATCTCTGAAGAAGAAGAAATGTTCTATGGAGGTGAAAGATCAAAG CATCTGAAAAATGGTTGCAGACGCGGATCTTCACTTGGTCAAATCAGTGGAGCATCCAAGAAAGGAAAAATCTGGCAGAACATCAGGAAA ACCTGCTGCAAGATTGTAGAGAACAATTGGTTTAAGTGTTTTATTGGGCTTGTTACTCTGCTCAGCACTGGCACTCTGGCTTTTGAAGAT ATATATATGGATCAGAGAAAGACAATTAAAATTTTATTAGAATATGCTGACATGATCTTTACTTATATCTTCATTCTGGAAATGCTTCTA AAATGGATGGCATATGGTTTTAAGGCCTATTTCTCTAATGGCTGGTACAGGCTGGACTTCGTGGTTGTTATTGTGTTTTGTCTTAGCTTA ATAGGCAAAACTCGGGAAGAACTAAAACCTCTTATTTCCATGAAATTCCTTCGGCCCCTCAGAGTTCTATCTCAATTTGAAAGAATGAAG GTGGTTGTGAGAGCTTTGATCAAAACAACCTTACCCACTTTGAATGTGTTTCTTGTCTGCCTGATGATCTGGCTGATTTTTAGTATCATG GGAGTAGACTTATTTGCTGGCAGATTCTATGAATGCATTGACCCAACAAGTGGAGAAAGGTTTCCTTCATCTGAAGTCATGAATAAGAGT CGGTGTGAAAGCCTTCTGTTTAACGAATCCATGCTATGGGAAAATGCAAAAATGAACTTTGATAATGTTGGAAATGGTTTCCTTTCTCTG CTTCAAGTAGCAACATTTAATGGATGGATCACTATTATGAATTCAGCAATTGATTCTGTTGCTGTTAATATACAGCCTCATTTTGAAGTC AACATCTACATGTATTGTTACTTTATCAACTTTATTATATTTGGAGTATTTCTCCCTCTGAGTATGCTGATTACTGTTATTATTGATAAT TTCAACAAGCATAAAATAAAGCTGGGAGGCTCAAATATCTTTATAACGGTTAAACAGAGAAAACAGTACCGCAGGCTGAAGAAGCTAATG TATGAGGATTCTCAAAGACCAGTACCTCGCCCATTAAACAAGCTCCAAGGATTCATCTTTGATGTGGTAACAAGCCAAGCTTTTAATGTC ATTGTTATGGTTCTTATATGTTTCCAAGCAATAGCCATGATGATAGACACTGATGTTCAGAGTCTACAAATGTCCATTGCTCTCTACTGG ATTAACTCAATTTTTGTTATGCTATATACTATGGAATGTATACTGAAGCTCATCGCTTTCCGTTGTTTTTATTTCACCATTGCGTGGAAC ATTTTTGATTTTATGGTGGTTATTTTCTCCATCACAGGACTATGTCTGCCTATGACAGTAGGATCCTACCTTGTGCCTCCTTCACTTGTG CAACTGATACTTCTCTCACGGATCATTCACATGCTGCGTCTTGGAAAAGGACCAAAGGTGTTTCATAATCTGATGCTTCCTTTGATGCTG TCCCTCCCAGCATTATTGAACATCATTCTTCTCATCTTCCTGGTCATGTTCATCTATGCCGTATTTGGAATGTATAATTTTGCCTATGTT AAAAAAGAAGCTGGAATTAATGATGTGTCTAATTTTGAAACCTTTGGCAACAGTATGCTCTGTCTTTTTCAAGTTGCAATATTTGCTGGT TGGGATGGGATGCTTGATGCAATTTTCAACAGTAAATGGTCTGACTGTGATCCTGATAAAATTAACCCTGGGACTCAAGTTAGAGGAGAT TGTGGGAACCCCTCTGTTGGGATTTTTTATTTTGTCAGTTATATCCTCATATCATGGCTGATCATTGTAAATATGTACATTGTTGTTGTC ATGGAGTTTTTAAATATTGCTTCTAAGAAGAAAAACAAGACCTTGAGTGAAGATGATTTTAGGAAATTCTTTCAGGTATGGAAAAGGTTT GATCCTGATAGGACCCAGTACATAGACTCTAGCAAGCTTTCAGATTTTGCAGCTGCTCTTGATCCTCCTCTTTTCATGGCAAAACCAAAC AAGGGCCAGCTCATTGCTTTGGACCTCCCCATGGCTGTTGGGGACAGAATTCATTGCCTCGATATCTTACTTGCTTTTACAAAGAGAGTT ATGGGTCAAGATGTGAGGATGGAGAAAGTTGTTTCAGAAATAGAATCAGGGTTTTTGTTAGCCAACCCTTTTAAGATCACATGTGAGCCA ATTACGACTACTTTGAAACGAAAACAAGAGGCAGTTTCAGCAACCATCATTCAACGTGCTTATAAAAATTACCGCTTGAGGCGAAATGAC AAAAATACATCAGATATTCATATGATAGATGGTGACAGAGATGTTCATGCTACTAAAGAAGGTGCCTATTTTGACAAAGCTAAGGAAAAG TCACCTATTCAAAGCCAGATCTAATACCACTTACCACCTCTTTTCATATTTCTTCACATATCTGAAAAATGTTGAAAGCCTAAGCCAGGA ATAAAAGAAAAGTAGAGATAATAATCAGTTCTTTACAACCGATGGTAATTAAGCTTGTATTCACAAGACTTCATGCCAAATTCACTTTTT AGCATTATATCTAACAAATCAAGAGAATCCTTAATATTGCTGCAGTGAGTTTAAAGTGGGTTAAAGTGGCCATTTGACAATCTCATATTT GTTTTCTCTACATGGCTTATATGATGTGTGCCTTCTAGGGAATGAAGGGAAGTGGTGATAGAGATCAGCAGCAGCAGGGGCTTTCTTTTA TATTTTATGTATAATTTAATGGGCTTTAAGTCACCACTATTAAGACTTACAAATAAGCAAATACTTTCCTGATGTGGGATGGTGAAATGC TAATGGCCATTAAATCATAAACTTGCCTAGACAAAAGCCAATTGGAAGAAGGGAGAGAGCAGTTCTTTAGAAAGTGCCTTTGAGATCAAC CTCAGAGATTCTTGGGCTGATTAAAACTGCATTTGAAAAAGATTGGTTGAAGCTCTGTGTTTATTTTTGTATGTTCTTGTTTTCATTTGG AACTGGGAATGAATAGGATTTCATTGTGCTCAAGCTCCTGGTTTCTCATCTCTGGATAGTTTCACCTAAGCTCTGGCTCTTAAGCAGGAC AGATTCGTAAAACAAGAAGCATAAAGGAGAGGTATAGCCTTTTTTTTTTTTTTTTTTTTCATTTTCTTCTCATTTACACCTATTTTTTTA AAAAGTATACATTTACTAAAATGATGTAATAAATAACATGTTAATAGACTCAAGCTTTACCTTATGAAATTGATGTATTTTTACCAGTTA TTTCTAATGTAACATTGAATATATAAGATCTGACAAATGTATGTTTAAACATGAATTAGAAGAGTTGAGAACTACCATTATGTATAGGGA TTCTCATAGTGTCTTGGCCCTTAATTGGAAAGTTGTGGCAACTTTAAAGTACTTTTTACTGTATGTTATAATTCTTTATAACTTAGAGAG AGACAATGGTCACTCAAACTATGAGAACTATGAATTAGGAGATAAAAGTTTAAATTTGTTGTTGTTTTATAACAGTATGTACAAGTTAGT TTTCCCTTATATATTTACGTTTTCAAGTTTTTTAATCTCATCATATACATCCATACTCTATAAAATGTTTTATATTCAAAGAACTGTAAA ATCCTAAACATTAGTTTTCACTATTGAAATTGTTTTTTAAAGATAGGCATAAATAGTTGTCCTTAGACTTATTCATACAAATATAGTCAT TTACTTCTATGTAGTTTGAGATTCTGAGAGTTATTCCAACTTTATGAAGATTGATTTCAATGTGCCTGCTAAGTCCTAAAAGATTCAGAA AGAAAATTTATATATTATTGATTTAAATATCATCCTTTAAATATGTTGTATAACATTCAATATAGTTTATGTATCAGTGATTGTATTTTA TTCTGAATGCATGATCTCAAGCCTTAACTACTATAATCTTTTTCTGCCCCTCAGAAATTGAATAACCTAACCAAGATGCCTTTAGGGGAT GCCCTAAGTAAATGTAATTTCAGATTTCAGGGTTTTTTTTTTTTCCTCTCTAAGTGTTCCTTCCCTTTCTTCTCCTGCTCTCCATCATGT TATGGAGACCAGTGAGGAACCAGTGTTAACTTGGTGACAATGTGACAGCTGGTGCTTTATCTAAGCTCCGTTTTCTATTTCTTGGGAATG CTTTATTGTGGAAACTGCTTCAGATACTTAAATTGAATCATAACTTGCTTCTGTAAATTGCGTAAAGACAACAAACTGATTTTAGTTTGA AAAGTTTATCTTTTACTTGTAAACCTTGTTTGCCAGTTACCTTCCGAAAGCTGTGTAAAGAGTTATTTTTAACAAAGTCTTAACAATATA >89420_89420_1_TBC1D8-SCN7A_TBC1D8_chr2_101643844_ENST00000376840_SCN7A_chr2_167304218_ENST00000409855_length(amino acids)=2077AA_BP=823 MWLKPEEVLLKNALKLWVTQKSSCYFILQRRRGHGEGGGRLTGRLVGALDAVLDSNARVAPFRILLQVPGSQVYSPIACGATLEEINQHW DWLEQNLLHTLSVFDNKDDIASFVKGKVKALIAEETSSRLAEQEEEPEKFREALVKFEARFNFPEAEKLVTYYSCCCWKGRVPRQGWLYL SINHLCFYSFFLGKELKLVVPWVDIQKLERTSNVFLTDTIRITTQNKERDFSMFLNLDEVFKVMEQLADVTLRRLLDNEVFDLDPDLQEP SQITKRDLEARAQNEFFRAFFRLPRKEKLHAVVDCSLWTPFSRCHTTGRMFASDSYICFASREDGCCKIILPLREVVSIEKMEDTSLLPH PIIVSIRSKVAFQFIELRDRDSLVEALLARLKQVHANHPVHYDTSADDDMASLVFHSTSMCSDHRFGDLEMMSSQNSEESEKEKSPLMHP DALVTAFQQSGSQSPDSRMSREQIKISLWNDHFVEYGRTVCMFRTEKIRKLVAMGIPESLRGRLWLLFSDAVTDLASHPGYYGNLVEESL GKCCLVTEEIERDLHRSLPEHPAFQNETGIAALRRVLTAYAHRNPKIGYCQSMNILTSVLLLYTKEEEAFWLLVAVCERMLPDYFNHRVI GAQVDQSVFEELIKGHLPELAEHMNDLSALASVSLSWFLTLFLSIMPLESAVNVVDCFFYDGIKAIFQLGLAVLEANAEDLCSSKDDGQA LMILSRFLDHIKNEDSPGPPVGSHHAFFSDDQEPYPVTDISDLIRDSYEKFGDQSVEQIEHLRYKHRIRVLQGHEDTTKQNVLRVVIPEV SILPEDLEELYDLFKAKTIQIEMKKRSPISTDTSLDVLEDATLRHKEELEKSKKICPLYWYKFAKTFLIWNCSPCWLKLKEFVHRIIMAP FTDLFLIICIILNVCFLTLEHYPMSKQTNTLLNIGNLVFIGIFTAEMIFKIIAMHPYGYFQVGWNIFDSMIVFHGLIELCLANVAGMALL RLFRMLRIFKLGKYWPTFQILMWSLSNSWVALKDLVLLLFTFIFFSAAFGMKLFGKNYEEFVCHIDKDCQLPRWHMHDFFHSFLNVFRIL CGEWVETLWDCMEVAGQSWCIPFYLMVILIGNLLVLYLFLALVSSFSSCKDVTAEENNEAKNLQLAVARIKKGINYVLLKILCKTQNVPK DTMDHVNEVYVKEDISDHTLSELSNTQDFLKDKEKSSGTEKNATENESQSLIPSPSVSETVPIASGESDIENLDNKEIQSKSGDGGSKEK IKQSSSSECSTVDIAISEEEEMFYGGERSKHLKNGCRRGSSLGQISGASKKGKIWQNIRKTCCKIVENNWFKCFIGLVTLLSTGTLAFED IYMDQRKTIKILLEYADMIFTYIFILEMLLKWMAYGFKAYFSNGWYRLDFVVVIVFCLSLIGKTREELKPLISMKFLRPLRVLSQFERMK VVVRALIKTTLPTLNVFLVCLMIWLIFSIMGVDLFAGRFYECIDPTSGERFPSSEVMNKSRCESLLFNESMLWENAKMNFDNVGNGFLSL LQVATFNGWITIMNSAIDSVAVNIQPHFEVNIYMYCYFINFIIFGVFLPLSMLITVIIDNFNKHKIKLGGSNIFITVKQRKQYRRLKKLM YEDSQRPVPRPLNKLQGFIFDVVTSQAFNVIVMVLICFQAIAMMIDTDVQSLQMSIALYWINSIFVMLYTMECILKLIAFRCFYFTIAWN IFDFMVVIFSITGLCLPMTVGSYLVPPSLVQLILLSRIIHMLRLGKGPKVFHNLMLPLMLSLPALLNIILLIFLVMFIYAVFGMYNFAYV KKEAGINDVSNFETFGNSMLCLFQVAIFAGWDGMLDAIFNSKWSDCDPDKINPGTQVRGDCGNPSVGIFYFVSYILISWLIIVNMYIVVV MEFLNIASKKKNKTLSEDDFRKFFQVWKRFDPDRTQYIDSSKLSDFAAALDPPLFMAKPNKGQLIALDLPMAVGDRIHCLDILLAFTKRV MGQDVRMEKVVSEIESGFLLANPFKITCEPITTTLKRKQEAVSATIIQRAYKNYRLRRNDKNTSDIHMIDGDRDVHATKEGAYFDKAKEK -------------------------------------------------------------- >89420_89420_2_TBC1D8-SCN7A_TBC1D8_chr2_101643844_ENST00000409318_SCN7A_chr2_167304218_ENST00000409855_length(transcript)=8417nt_BP=2651nt TCAGAGCGCTGGGCACCGGCCGGGCTGTGGTCCCCGCGCGCCGCCGTCGCCTCTCGAGCGGGCTCGGCTCACAGCGACCGGCGGCCGGGG AGATGTGAGCTGGGGCCGGCGGGCGCGGCCGGACCGCCGCGATGTGGCTCAAGCCCGAGGAGGTGCTGCTGAAGAACGCGCTGAAGCTCT GGGTGACCCAGAAGAGCAGCTGCTACTTCATCCTGCAGCGGCGCCGCGGGCACGGCGAGGGGGGCGGCCGCCTCACCGGTCGCCTGGTCG GCGCTCTGGATGCAGTGTTGGATTCCAATGCACGGGTCGCTCCATTTCGAATTCTGCTTCAAGTTCCCGGCTCCCAGGTTTATTCTCCCA TAGCATGTGGTGAGTTACTGAATGGATCAGACGTTTACTGGGCCATAGCCACTGGTGCAACATTAGAGGAAATCAATCAGCACTGGGACT GGCTGGAACAAAATCTCCTCCACACCTTGTCTGTCTTTGATAATAAAGATGACATTGCCAGTTTTGTCAAAGGGAAGGTAAAGGCTCTGA TAGCCGAGGAGACCAGCAGCAGGCTCGCCGAGCAGGAGGAGGAACCCGAGAAATTCCGAGAAGCCCTGGTGAAGTTCGAGGCCAGGTTCA ACTTCCCCGAGGCGGAGAAGCTGGTCACCTACTACTCCTGCTGCTGTTGGAAGGGCAGGGTGCCCCGCCAGGGCTGGCTGTACCTCAGCA TCAACCACCTCTGCTTCTACTCCTTCTTCCTGGGCAAGGAACTTAAACTTGTGGTTCCGTGGGTTGATATCCAGAAATTAGAAAGAACGT CCAATGTCTTTCTGACGGATACCATCCGAATCACCACGCAGAATAAGGAGCGTGACTTCTCCATGTTCCTGAACCTGGATGAGGTGTTTA AGGTCATGGAGCAGCTGGCCGACGTGACGCTGCGAAGGCTGCTGGATAATGAGGTCTTTGACCTCGACCCCGATCTGCAGGAGCCGAGCC AGATCACCAAGAGGGACCTGGAAGCCAGAGCACAGAATGAGTTCTTCCGGGCTTTCTTCAGGTTGCCGAGGAAGGAGAAGCTGCACGCGG TTGTGGACTGTTCGCTCTGGACGCCGTTCAGTCGCTGTCACACCACGGGGCGGATGTTCGCCTCTGACAGCTACATCTGCTTTGCCAGCA GAGAAGATGGCTGCTGTAAGATCATCCTGCCACTCAGAGAGGTGGTGAGCATCGAGAAGATGGAGGACACGAGCCTGCTGCCGCATCCCA TCATTGTCAGTATCAGAAGCAAGGTGGCCTTCCAGTTCATTGAGCTCCGGGACCGAGACAGCCTGGTGGAGGCGCTGCTTGCGAGGTTGA AGCAGGTCCACGCCAACCACCCCGTGCACTACGACACCTCTGCGGATGATGACATGGCTTCACTCGTGTTTCATTCAACAAGCATGTGCA GTGACCACAGATTTGGGGATCTTGAAATGATGTCTTCTCAAAATAGCGAGGAGAGTGAGAAAGAGAAGAGCCCGCTGATGCACCCCGATG CCCTGGTCACCGCCTTCCAGCAGTCAGGCAGCCAGAGCCCTGACTCCCGAATGTCCAGAGAACAGATAAAAATAAGCCTGTGGAATGACC ACTTTGTGGAATACGGCAGAACCGTGTGTATGTTTCGCACAGAGAAGATTCGGAAGCTCGTAGCCATGGGCATCCCTGAATCTTTGCGAG GGAGACTCTGGCTTCTCTTCTCAGATGCGGTGACGGATCTTGCCTCACACCCTGGTTACTACGGGAATCTGGTGGAGGAGTCCCTGGGGA AATGCTGCCTGGTAACCGAGGAGATAGAACGAGACCTGCACCGCTCCCTGCCAGAGCACCCCGCCTTCCAGAACGAAACGGGAATTGCTG CTTTGAGGAGAGTCTTGACGGCCTATGCCCACCGGAACCCCAAGATTGGATACTGCCAGTCCATGAACATCCTGACCTCCGTGCTGCTGC TGTACACCAAGGAGGAGGAAGCCTTCTGGCTGTTGGTTGCTGTGTGTGAGCGGATGCTGCCCGATTACTTCAACCACCGAGTGATCGGGG CACAAGTTGACCAGTCTGTCTTCGAGGAGCTCATCAAGGGTCATCTCCCAGAGCTGGCAGAGCACATGAACGACCTCTCAGCCCTGGCGT CCGTCTCTCTCTCGTGGTTCCTGACCCTGTTCCTCAGCATCATGCCTCTAGAGAGTGCGGTGAATGTGGTAGACTGCTTCTTCTATGATG GCATCAAAGCCATCTTCCAGCTGGGACTGGCTGTGCTTGAGGCCAATGCTGAGGACCTGTGCAGCAGCAAGGATGATGGCCAGGCCTTGA TGATCCTCAGCAGGTTTCTAGATCACATTAAGAATGAGGACAGCCCAGGGCCCCCAGTTGGCAGCCACCATGCCTTTTTCTCCGACGACC AGGAGCCCTACCCTGTGACTGATATTTCGGACCTGATCCGGGATTCCTATGAGAAATTTGGAGACCAGTCTGTGGAGCAGATCGAGCACC TACGTTACAAGCACAGGATCAGGGTCCTCCAAGGCCACGAGGACACCACAAAGCAGAACGTGCTTCGAGTCGTTATCCCGGAAGTCTCAA TTCTTCCTGAAGACCTAGAGGAGCTCTACGACTTATTCAAGGCCAAGACCATACAAATAGAAATGAAGAAAAGGTCACCAATTTCCACAG ACACATCATTGGATGTGTTGGAAGATGCTACTCTCAGACATAAGGAAGAACTTGAAAAATCCAAGAAGATATGCCCATTATACTGGTATA AGTTTGCTAAAACTTTCTTGATCTGGAATTGTTCTCCCTGTTGGTTAAAATTGAAAGAGTTTGTCCATAGGATTATAATGGCACCATTTA CTGATCTTTTCCTTATCATATGCATAATTTTAAACGTATGTTTTCTGACCTTGGAGCATTATCCAATGAGTAAACAAACTAACACTCTTC TCAACATTGGAAACCTGGTTTTCATTGGAATTTTCACAGCAGAAATGATTTTTAAAATAATTGCAATGCATCCATATGGGTATTTCCAAG TAGGTTGGAACATTTTTGATAGCATGATAGTGTTCCATGGTTTAATAGAACTTTGTCTAGCAAATGTTGCAGGAATGGCTCTTCTTCGAT TATTCAGGATGTTAAGAATTTTCAAGTTGGGAAAGTATTGGCCAACATTCCAGATTTTGATGTGGTCTCTTAGTAACTCATGGGTGGCCC TGAAAGACTTGGTCCTGTTGTTGTTCACATTCATCTTCTTTTCTGCTGCATTCGGCATGAAGCTGTTTGGTAAGAATTATGAAGAATTTG TCTGCCACATAGACAAAGACTGTCAACTCCCACGCTGGCACATGCATGACTTTTTCCACTCCTTCCTGAATGTGTTCCGAATTCTCTGTG GAGAGTGGGTAGAGACCTTGTGGGACTGTATGGAGGTTGCAGGCCAATCCTGGTGTATTCCTTTTTACCTGATGGTCATTTTAATTGGAA ATTTACTGGTACTTTACCTGTTTCTGGCATTGGTGAGCTCATTTAGTTCATGCAAGGATGTAACAGCTGAAGAGAATAATGAAGCAAAAA ATCTCCAGCTTGCAGTGGCAAGAATTAAAAAAGGAATAAACTATGTGCTTCTTAAAATACTATGCAAAACACAAAATGTCCCAAAGGACA CAATGGACCATGTAAATGAGGTATATGTTAAAGAAGATATTTCTGACCATACCCTTTCTGAATTGAGCAACACCCAAGATTTTCTCAAAG ATAAGGAAAAAAGCAGTGGCACAGAGAAAAACGCTACTGAAAATGAGAGCCAATCACTTATCCCCAGTCCTAGTGTCTCAGAAACTGTAC CAATTGCTTCAGGAGAATCTGATATAGAAAATCTGGATAATAAGGAGATTCAGAGTAAGTCTGGTGATGGAGGCAGCAAAGAGAAAATAA AGCAATCTAGCTCATCTGAATGCAGTACTGTTGATATTGCTATCTCTGAAGAAGAAGAAATGTTCTATGGAGGTGAAAGATCAAAGCATC TGAAAAATGGTTGCAGACGCGGATCTTCACTTGGTCAAATCAGTGGAGCATCCAAGAAAGGAAAAATCTGGCAGAACATCAGGAAAACCT GCTGCAAGATTGTAGAGAACAATTGGTTTAAGTGTTTTATTGGGCTTGTTACTCTGCTCAGCACTGGCACTCTGGCTTTTGAAGATATAT ATATGGATCAGAGAAAGACAATTAAAATTTTATTAGAATATGCTGACATGATCTTTACTTATATCTTCATTCTGGAAATGCTTCTAAAAT GGATGGCATATGGTTTTAAGGCCTATTTCTCTAATGGCTGGTACAGGCTGGACTTCGTGGTTGTTATTGTGTTTTGTCTTAGCTTAATAG GCAAAACTCGGGAAGAACTAAAACCTCTTATTTCCATGAAATTCCTTCGGCCCCTCAGAGTTCTATCTCAATTTGAAAGAATGAAGGTGG TTGTGAGAGCTTTGATCAAAACAACCTTACCCACTTTGAATGTGTTTCTTGTCTGCCTGATGATCTGGCTGATTTTTAGTATCATGGGAG TAGACTTATTTGCTGGCAGATTCTATGAATGCATTGACCCAACAAGTGGAGAAAGGTTTCCTTCATCTGAAGTCATGAATAAGAGTCGGT GTGAAAGCCTTCTGTTTAACGAATCCATGCTATGGGAAAATGCAAAAATGAACTTTGATAATGTTGGAAATGGTTTCCTTTCTCTGCTTC AAGTAGCAACATTTAATGGATGGATCACTATTATGAATTCAGCAATTGATTCTGTTGCTGTTAATATACAGCCTCATTTTGAAGTCAACA TCTACATGTATTGTTACTTTATCAACTTTATTATATTTGGAGTATTTCTCCCTCTGAGTATGCTGATTACTGTTATTATTGATAATTTCA ACAAGCATAAAATAAAGCTGGGAGGCTCAAATATCTTTATAACGGTTAAACAGAGAAAACAGTACCGCAGGCTGAAGAAGCTAATGTATG AGGATTCTCAAAGACCAGTACCTCGCCCATTAAACAAGCTCCAAGGATTCATCTTTGATGTGGTAACAAGCCAAGCTTTTAATGTCATTG TTATGGTTCTTATATGTTTCCAAGCAATAGCCATGATGATAGACACTGATGTTCAGAGTCTACAAATGTCCATTGCTCTCTACTGGATTA ACTCAATTTTTGTTATGCTATATACTATGGAATGTATACTGAAGCTCATCGCTTTCCGTTGTTTTTATTTCACCATTGCGTGGAACATTT TTGATTTTATGGTGGTTATTTTCTCCATCACAGGACTATGTCTGCCTATGACAGTAGGATCCTACCTTGTGCCTCCTTCACTTGTGCAAC TGATACTTCTCTCACGGATCATTCACATGCTGCGTCTTGGAAAAGGACCAAAGGTGTTTCATAATCTGATGCTTCCTTTGATGCTGTCCC TCCCAGCATTATTGAACATCATTCTTCTCATCTTCCTGGTCATGTTCATCTATGCCGTATTTGGAATGTATAATTTTGCCTATGTTAAAA AAGAAGCTGGAATTAATGATGTGTCTAATTTTGAAACCTTTGGCAACAGTATGCTCTGTCTTTTTCAAGTTGCAATATTTGCTGGTTGGG ATGGGATGCTTGATGCAATTTTCAACAGTAAATGGTCTGACTGTGATCCTGATAAAATTAACCCTGGGACTCAAGTTAGAGGAGATTGTG GGAACCCCTCTGTTGGGATTTTTTATTTTGTCAGTTATATCCTCATATCATGGCTGATCATTGTAAATATGTACATTGTTGTTGTCATGG AGTTTTTAAATATTGCTTCTAAGAAGAAAAACAAGACCTTGAGTGAAGATGATTTTAGGAAATTCTTTCAGGTATGGAAAAGGTTTGATC CTGATAGGACCCAGTACATAGACTCTAGCAAGCTTTCAGATTTTGCAGCTGCTCTTGATCCTCCTCTTTTCATGGCAAAACCAAACAAGG GCCAGCTCATTGCTTTGGACCTCCCCATGGCTGTTGGGGACAGAATTCATTGCCTCGATATCTTACTTGCTTTTACAAAGAGAGTTATGG GTCAAGATGTGAGGATGGAGAAAGTTGTTTCAGAAATAGAATCAGGGTTTTTGTTAGCCAACCCTTTTAAGATCACATGTGAGCCAATTA CGACTACTTTGAAACGAAAACAAGAGGCAGTTTCAGCAACCATCATTCAACGTGCTTATAAAAATTACCGCTTGAGGCGAAATGACAAAA ATACATCAGATATTCATATGATAGATGGTGACAGAGATGTTCATGCTACTAAAGAAGGTGCCTATTTTGACAAAGCTAAGGAAAAGTCAC CTATTCAAAGCCAGATCTAATACCACTTACCACCTCTTTTCATATTTCTTCACATATCTGAAAAATGTTGAAAGCCTAAGCCAGGAATAA AAGAAAAGTAGAGATAATAATCAGTTCTTTACAACCGATGGTAATTAAGCTTGTATTCACAAGACTTCATGCCAAATTCACTTTTTAGCA TTATATCTAACAAATCAAGAGAATCCTTAATATTGCTGCAGTGAGTTTAAAGTGGGTTAAAGTGGCCATTTGACAATCTCATATTTGTTT TCTCTACATGGCTTATATGATGTGTGCCTTCTAGGGAATGAAGGGAAGTGGTGATAGAGATCAGCAGCAGCAGGGGCTTTCTTTTATATT TTATGTATAATTTAATGGGCTTTAAGTCACCACTATTAAGACTTACAAATAAGCAAATACTTTCCTGATGTGGGATGGTGAAATGCTAAT GGCCATTAAATCATAAACTTGCCTAGACAAAAGCCAATTGGAAGAAGGGAGAGAGCAGTTCTTTAGAAAGTGCCTTTGAGATCAACCTCA GAGATTCTTGGGCTGATTAAAACTGCATTTGAAAAAGATTGGTTGAAGCTCTGTGTTTATTTTTGTATGTTCTTGTTTTCATTTGGAACT GGGAATGAATAGGATTTCATTGTGCTCAAGCTCCTGGTTTCTCATCTCTGGATAGTTTCACCTAAGCTCTGGCTCTTAAGCAGGACAGAT TCGTAAAACAAGAAGCATAAAGGAGAGGTATAGCCTTTTTTTTTTTTTTTTTTTTCATTTTCTTCTCATTTACACCTATTTTTTTAAAAA GTATACATTTACTAAAATGATGTAATAAATAACATGTTAATAGACTCAAGCTTTACCTTATGAAATTGATGTATTTTTACCAGTTATTTC TAATGTAACATTGAATATATAAGATCTGACAAATGTATGTTTAAACATGAATTAGAAGAGTTGAGAACTACCATTATGTATAGGGATTCT CATAGTGTCTTGGCCCTTAATTGGAAAGTTGTGGCAACTTTAAAGTACTTTTTACTGTATGTTATAATTCTTTATAACTTAGAGAGAGAC AATGGTCACTCAAACTATGAGAACTATGAATTAGGAGATAAAAGTTTAAATTTGTTGTTGTTTTATAACAGTATGTACAAGTTAGTTTTC CCTTATATATTTACGTTTTCAAGTTTTTTAATCTCATCATATACATCCATACTCTATAAAATGTTTTATATTCAAAGAACTGTAAAATCC TAAACATTAGTTTTCACTATTGAAATTGTTTTTTAAAGATAGGCATAAATAGTTGTCCTTAGACTTATTCATACAAATATAGTCATTTAC TTCTATGTAGTTTGAGATTCTGAGAGTTATTCCAACTTTATGAAGATTGATTTCAATGTGCCTGCTAAGTCCTAAAAGATTCAGAAAGAA AATTTATATATTATTGATTTAAATATCATCCTTTAAATATGTTGTATAACATTCAATATAGTTTATGTATCAGTGATTGTATTTTATTCT GAATGCATGATCTCAAGCCTTAACTACTATAATCTTTTTCTGCCCCTCAGAAATTGAATAACCTAACCAAGATGCCTTTAGGGGATGCCC TAAGTAAATGTAATTTCAGATTTCAGGGTTTTTTTTTTTTCCTCTCTAAGTGTTCCTTCCCTTTCTTCTCCTGCTCTCCATCATGTTATG GAGACCAGTGAGGAACCAGTGTTAACTTGGTGACAATGTGACAGCTGGTGCTTTATCTAAGCTCCGTTTTCTATTTCTTGGGAATGCTTT ATTGTGGAAACTGCTTCAGATACTTAAATTGAATCATAACTTGCTTCTGTAAATTGCGTAAAGACAACAAACTGATTTTAGTTTGAAAAG TTTATCTTTTACTTGTAAACCTTGTTTGCCAGTTACCTTCCGAAAGCTGTGTAAAGAGTTATTTTTAACAAAGTCTTAACAATATATGTT >89420_89420_2_TBC1D8-SCN7A_TBC1D8_chr2_101643844_ENST00000409318_SCN7A_chr2_167304218_ENST00000409855_length(amino acids)=2092AA_BP=838 MWLKPEEVLLKNALKLWVTQKSSCYFILQRRRGHGEGGGRLTGRLVGALDAVLDSNARVAPFRILLQVPGSQVYSPIACGELLNGSDVYW AIATGATLEEINQHWDWLEQNLLHTLSVFDNKDDIASFVKGKVKALIAEETSSRLAEQEEEPEKFREALVKFEARFNFPEAEKLVTYYSC CCWKGRVPRQGWLYLSINHLCFYSFFLGKELKLVVPWVDIQKLERTSNVFLTDTIRITTQNKERDFSMFLNLDEVFKVMEQLADVTLRRL LDNEVFDLDPDLQEPSQITKRDLEARAQNEFFRAFFRLPRKEKLHAVVDCSLWTPFSRCHTTGRMFASDSYICFASREDGCCKIILPLRE VVSIEKMEDTSLLPHPIIVSIRSKVAFQFIELRDRDSLVEALLARLKQVHANHPVHYDTSADDDMASLVFHSTSMCSDHRFGDLEMMSSQ NSEESEKEKSPLMHPDALVTAFQQSGSQSPDSRMSREQIKISLWNDHFVEYGRTVCMFRTEKIRKLVAMGIPESLRGRLWLLFSDAVTDL ASHPGYYGNLVEESLGKCCLVTEEIERDLHRSLPEHPAFQNETGIAALRRVLTAYAHRNPKIGYCQSMNILTSVLLLYTKEEEAFWLLVA VCERMLPDYFNHRVIGAQVDQSVFEELIKGHLPELAEHMNDLSALASVSLSWFLTLFLSIMPLESAVNVVDCFFYDGIKAIFQLGLAVLE ANAEDLCSSKDDGQALMILSRFLDHIKNEDSPGPPVGSHHAFFSDDQEPYPVTDISDLIRDSYEKFGDQSVEQIEHLRYKHRIRVLQGHE DTTKQNVLRVVIPEVSILPEDLEELYDLFKAKTIQIEMKKRSPISTDTSLDVLEDATLRHKEELEKSKKICPLYWYKFAKTFLIWNCSPC WLKLKEFVHRIIMAPFTDLFLIICIILNVCFLTLEHYPMSKQTNTLLNIGNLVFIGIFTAEMIFKIIAMHPYGYFQVGWNIFDSMIVFHG LIELCLANVAGMALLRLFRMLRIFKLGKYWPTFQILMWSLSNSWVALKDLVLLLFTFIFFSAAFGMKLFGKNYEEFVCHIDKDCQLPRWH MHDFFHSFLNVFRILCGEWVETLWDCMEVAGQSWCIPFYLMVILIGNLLVLYLFLALVSSFSSCKDVTAEENNEAKNLQLAVARIKKGIN YVLLKILCKTQNVPKDTMDHVNEVYVKEDISDHTLSELSNTQDFLKDKEKSSGTEKNATENESQSLIPSPSVSETVPIASGESDIENLDN KEIQSKSGDGGSKEKIKQSSSSECSTVDIAISEEEEMFYGGERSKHLKNGCRRGSSLGQISGASKKGKIWQNIRKTCCKIVENNWFKCFI GLVTLLSTGTLAFEDIYMDQRKTIKILLEYADMIFTYIFILEMLLKWMAYGFKAYFSNGWYRLDFVVVIVFCLSLIGKTREELKPLISMK FLRPLRVLSQFERMKVVVRALIKTTLPTLNVFLVCLMIWLIFSIMGVDLFAGRFYECIDPTSGERFPSSEVMNKSRCESLLFNESMLWEN AKMNFDNVGNGFLSLLQVATFNGWITIMNSAIDSVAVNIQPHFEVNIYMYCYFINFIIFGVFLPLSMLITVIIDNFNKHKIKLGGSNIFI TVKQRKQYRRLKKLMYEDSQRPVPRPLNKLQGFIFDVVTSQAFNVIVMVLICFQAIAMMIDTDVQSLQMSIALYWINSIFVMLYTMECIL KLIAFRCFYFTIAWNIFDFMVVIFSITGLCLPMTVGSYLVPPSLVQLILLSRIIHMLRLGKGPKVFHNLMLPLMLSLPALLNIILLIFLV MFIYAVFGMYNFAYVKKEAGINDVSNFETFGNSMLCLFQVAIFAGWDGMLDAIFNSKWSDCDPDKINPGTQVRGDCGNPSVGIFYFVSYI LISWLIIVNMYIVVVMEFLNIASKKKNKTLSEDDFRKFFQVWKRFDPDRTQYIDSSKLSDFAAALDPPLFMAKPNKGQLIALDLPMAVGD RIHCLDILLAFTKRVMGQDVRMEKVVSEIESGFLLANPFKITCEPITTTLKRKQEAVSATIIQRAYKNYRLRRNDKNTSDIHMIDGDRDV -------------------------------------------------------------- |
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Fusion Gene PPI Analysis for TBC1D8-SCN7A |
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 |
- 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 TBC1D8-SCN7A |
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 TBC1D8-SCN7A |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | C0004352 | Autistic Disorder | 1 | CTD_human |