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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:NF1-ACACA (FusionGDB2 ID:HG4763TG31) |
Fusion Gene Summary for NF1-ACACA |
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Fusion gene information | Fusion gene name: NF1-ACACA | Fusion gene ID: hg4763tg31 | Hgene | Tgene | Gene symbol | NF1 | ACACA | Gene ID | 4763 | 31 |
Gene name | neurofibromin 1 | acetyl-CoA carboxylase alpha | |
Synonyms | NFNS|VRNF|WSS | ACAC|ACACAD|ACC|ACC1|ACCA | |
Cytomap | ('NF1')('ACACA') 17q11.2 | 17q12 | |
Type of gene | protein-coding | protein-coding | |
Description | neurofibrominneurofibromatosis 1neurofibromatosis-related protein NF-1truncated neurofibromin 1 | acetyl-CoA carboxylase 1ACC-alphaacetyl-Coenzyme A carboxylase alpha | |
Modification date | 20200322 | 20200313 | |
UniProtAcc | P21359 | . | |
Ensembl transtripts involved in fusion gene | ENST00000356175, ENST00000358273, ENST00000431387, ENST00000417592, ENST00000444181, ENST00000581113, | ||
Fusion gene scores | * DoF score | 47 X 26 X 21=25662 | 20 X 22 X 7=3080 |
# samples | 69 | 21 | |
** MAII score | log2(69/25662*10)=-5.21689344093196 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(21/3080*10)=-3.87446911791614 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: NF1 [Title/Abstract] AND ACACA [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | NF1(29422387)-ACACA(35518964), # samples:3 | ||
Anticipated loss of major functional domain due to fusion event. | NF1-ACACA 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. NF1-ACACA 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. NF1-ACACA 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. NF1-ACACA 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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | NF1 | GO:0043547 | positive regulation of GTPase activity | 2121371 |
![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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![]() * 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 | BRCA | TCGA-E9-A1N6-01A | NF1 | chr17 | 29422387 | - | ACACA | chr17 | 35518964 | - |
ChimerDB4 | BRCA | TCGA-E9-A1N6-01A | NF1 | chr17 | 29422387 | + | ACACA | chr17 | 35518964 | - |
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Fusion Gene ORF analysis for NF1-ACACA |
![]() * 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 |
5CDS-intron | ENST00000356175 | ENST00000361253 | NF1 | chr17 | 29422387 | + | ACACA | chr17 | 35518964 | - |
5CDS-intron | ENST00000356175 | ENST00000416895 | NF1 | chr17 | 29422387 | + | ACACA | chr17 | 35518964 | - |
5CDS-intron | ENST00000356175 | ENST00000588142 | NF1 | chr17 | 29422387 | + | ACACA | chr17 | 35518964 | - |
5CDS-intron | ENST00000356175 | ENST00000589665 | NF1 | chr17 | 29422387 | + | ACACA | chr17 | 35518964 | - |
5CDS-intron | ENST00000358273 | ENST00000361253 | NF1 | chr17 | 29422387 | + | ACACA | chr17 | 35518964 | - |
5CDS-intron | ENST00000358273 | ENST00000416895 | NF1 | chr17 | 29422387 | + | ACACA | chr17 | 35518964 | - |
5CDS-intron | ENST00000358273 | ENST00000588142 | NF1 | chr17 | 29422387 | + | ACACA | chr17 | 35518964 | - |
5CDS-intron | ENST00000358273 | ENST00000589665 | NF1 | chr17 | 29422387 | + | ACACA | chr17 | 35518964 | - |
5CDS-intron | ENST00000431387 | ENST00000361253 | NF1 | chr17 | 29422387 | + | ACACA | chr17 | 35518964 | - |
5CDS-intron | ENST00000431387 | ENST00000416895 | NF1 | chr17 | 29422387 | + | ACACA | chr17 | 35518964 | - |
5CDS-intron | ENST00000431387 | ENST00000588142 | NF1 | chr17 | 29422387 | + | ACACA | chr17 | 35518964 | - |
5CDS-intron | ENST00000431387 | ENST00000589665 | NF1 | chr17 | 29422387 | + | ACACA | chr17 | 35518964 | - |
In-frame | ENST00000356175 | ENST00000335166 | NF1 | chr17 | 29422387 | + | ACACA | chr17 | 35518964 | - |
In-frame | ENST00000356175 | ENST00000353139 | NF1 | chr17 | 29422387 | + | ACACA | chr17 | 35518964 | - |
In-frame | ENST00000356175 | ENST00000360679 | NF1 | chr17 | 29422387 | + | ACACA | chr17 | 35518964 | - |
In-frame | ENST00000356175 | ENST00000394406 | NF1 | chr17 | 29422387 | + | ACACA | chr17 | 35518964 | - |
In-frame | ENST00000358273 | ENST00000335166 | NF1 | chr17 | 29422387 | + | ACACA | chr17 | 35518964 | - |
In-frame | ENST00000358273 | ENST00000353139 | NF1 | chr17 | 29422387 | + | ACACA | chr17 | 35518964 | - |
In-frame | ENST00000358273 | ENST00000360679 | NF1 | chr17 | 29422387 | + | ACACA | chr17 | 35518964 | - |
In-frame | ENST00000358273 | ENST00000394406 | NF1 | chr17 | 29422387 | + | ACACA | chr17 | 35518964 | - |
In-frame | ENST00000431387 | ENST00000335166 | NF1 | chr17 | 29422387 | + | ACACA | chr17 | 35518964 | - |
In-frame | ENST00000431387 | ENST00000353139 | NF1 | chr17 | 29422387 | + | ACACA | chr17 | 35518964 | - |
In-frame | ENST00000431387 | ENST00000360679 | NF1 | chr17 | 29422387 | + | ACACA | chr17 | 35518964 | - |
In-frame | ENST00000431387 | ENST00000394406 | NF1 | chr17 | 29422387 | + | ACACA | chr17 | 35518964 | - |
intron-3CDS | ENST00000417592 | ENST00000335166 | NF1 | chr17 | 29422387 | + | ACACA | chr17 | 35518964 | - |
intron-3CDS | ENST00000417592 | ENST00000353139 | NF1 | chr17 | 29422387 | + | ACACA | chr17 | 35518964 | - |
intron-3CDS | ENST00000417592 | ENST00000360679 | NF1 | chr17 | 29422387 | + | ACACA | chr17 | 35518964 | - |
intron-3CDS | ENST00000417592 | ENST00000394406 | NF1 | chr17 | 29422387 | + | ACACA | chr17 | 35518964 | - |
intron-3CDS | ENST00000444181 | ENST00000335166 | NF1 | chr17 | 29422387 | + | ACACA | chr17 | 35518964 | - |
intron-3CDS | ENST00000444181 | ENST00000353139 | NF1 | chr17 | 29422387 | + | ACACA | chr17 | 35518964 | - |
intron-3CDS | ENST00000444181 | ENST00000360679 | NF1 | chr17 | 29422387 | + | ACACA | chr17 | 35518964 | - |
intron-3CDS | ENST00000444181 | ENST00000394406 | NF1 | chr17 | 29422387 | + | ACACA | chr17 | 35518964 | - |
intron-3CDS | ENST00000581113 | ENST00000335166 | NF1 | chr17 | 29422387 | + | ACACA | chr17 | 35518964 | - |
intron-3CDS | ENST00000581113 | ENST00000353139 | NF1 | chr17 | 29422387 | + | ACACA | chr17 | 35518964 | - |
intron-3CDS | ENST00000581113 | ENST00000360679 | NF1 | chr17 | 29422387 | + | ACACA | chr17 | 35518964 | - |
intron-3CDS | ENST00000581113 | ENST00000394406 | NF1 | chr17 | 29422387 | + | ACACA | chr17 | 35518964 | - |
intron-intron | ENST00000417592 | ENST00000361253 | NF1 | chr17 | 29422387 | + | ACACA | chr17 | 35518964 | - |
intron-intron | ENST00000417592 | ENST00000416895 | NF1 | chr17 | 29422387 | + | ACACA | chr17 | 35518964 | - |
intron-intron | ENST00000417592 | ENST00000588142 | NF1 | chr17 | 29422387 | + | ACACA | chr17 | 35518964 | - |
intron-intron | ENST00000417592 | ENST00000589665 | NF1 | chr17 | 29422387 | + | ACACA | chr17 | 35518964 | - |
intron-intron | ENST00000444181 | ENST00000361253 | NF1 | chr17 | 29422387 | + | ACACA | chr17 | 35518964 | - |
intron-intron | ENST00000444181 | ENST00000416895 | NF1 | chr17 | 29422387 | + | ACACA | chr17 | 35518964 | - |
intron-intron | ENST00000444181 | ENST00000588142 | NF1 | chr17 | 29422387 | + | ACACA | chr17 | 35518964 | - |
intron-intron | ENST00000444181 | ENST00000589665 | NF1 | chr17 | 29422387 | + | ACACA | chr17 | 35518964 | - |
intron-intron | ENST00000581113 | ENST00000361253 | NF1 | chr17 | 29422387 | + | ACACA | chr17 | 35518964 | - |
intron-intron | ENST00000581113 | ENST00000416895 | NF1 | chr17 | 29422387 | + | ACACA | chr17 | 35518964 | - |
intron-intron | ENST00000581113 | ENST00000588142 | NF1 | chr17 | 29422387 | + | ACACA | chr17 | 35518964 | - |
intron-intron | ENST00000581113 | ENST00000589665 | NF1 | chr17 | 29422387 | + | ACACA | chr17 | 35518964 | - |
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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) |
ENST00000356175 | NF1 | chr17 | 29422387 | + | ENST00000353139 | ACACA | chr17 | 35518964 | - | 4844 | 443 | 254 | 2515 | 753 |
ENST00000356175 | NF1 | chr17 | 29422387 | + | ENST00000360679 | ACACA | chr17 | 35518964 | - | 4838 | 443 | 254 | 2515 | 753 |
ENST00000356175 | NF1 | chr17 | 29422387 | + | ENST00000394406 | ACACA | chr17 | 35518964 | - | 4838 | 443 | 254 | 2515 | 753 |
ENST00000356175 | NF1 | chr17 | 29422387 | + | ENST00000335166 | ACACA | chr17 | 35518964 | - | 3015 | 443 | 254 | 2515 | 753 |
ENST00000358273 | NF1 | chr17 | 29422387 | + | ENST00000353139 | ACACA | chr17 | 35518964 | - | 4844 | 443 | 254 | 2515 | 753 |
ENST00000358273 | NF1 | chr17 | 29422387 | + | ENST00000360679 | ACACA | chr17 | 35518964 | - | 4838 | 443 | 254 | 2515 | 753 |
ENST00000358273 | NF1 | chr17 | 29422387 | + | ENST00000394406 | ACACA | chr17 | 35518964 | - | 4838 | 443 | 254 | 2515 | 753 |
ENST00000358273 | NF1 | chr17 | 29422387 | + | ENST00000335166 | ACACA | chr17 | 35518964 | - | 3015 | 443 | 254 | 2515 | 753 |
ENST00000431387 | NF1 | chr17 | 29422387 | + | ENST00000353139 | ACACA | chr17 | 35518964 | - | 4794 | 393 | 204 | 2465 | 753 |
ENST00000431387 | NF1 | chr17 | 29422387 | + | ENST00000360679 | ACACA | chr17 | 35518964 | - | 4788 | 393 | 204 | 2465 | 753 |
ENST00000431387 | NF1 | chr17 | 29422387 | + | ENST00000394406 | ACACA | chr17 | 35518964 | - | 4788 | 393 | 204 | 2465 | 753 |
ENST00000431387 | NF1 | chr17 | 29422387 | + | ENST00000335166 | ACACA | chr17 | 35518964 | - | 2965 | 393 | 204 | 2465 | 753 |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
ENST00000356175 | ENST00000353139 | NF1 | chr17 | 29422387 | + | ACACA | chr17 | 35518964 | - | 0.001613614 | 0.9983864 |
ENST00000356175 | ENST00000360679 | NF1 | chr17 | 29422387 | + | ACACA | chr17 | 35518964 | - | 0.001618409 | 0.9983816 |
ENST00000356175 | ENST00000394406 | NF1 | chr17 | 29422387 | + | ACACA | chr17 | 35518964 | - | 0.001618409 | 0.9983816 |
ENST00000356175 | ENST00000335166 | NF1 | chr17 | 29422387 | + | ACACA | chr17 | 35518964 | - | 0.002001529 | 0.9979984 |
ENST00000358273 | ENST00000353139 | NF1 | chr17 | 29422387 | + | ACACA | chr17 | 35518964 | - | 0.001613614 | 0.9983864 |
ENST00000358273 | ENST00000360679 | NF1 | chr17 | 29422387 | + | ACACA | chr17 | 35518964 | - | 0.001618409 | 0.9983816 |
ENST00000358273 | ENST00000394406 | NF1 | chr17 | 29422387 | + | ACACA | chr17 | 35518964 | - | 0.001618409 | 0.9983816 |
ENST00000358273 | ENST00000335166 | NF1 | chr17 | 29422387 | + | ACACA | chr17 | 35518964 | - | 0.002001529 | 0.9979984 |
ENST00000431387 | ENST00000353139 | NF1 | chr17 | 29422387 | + | ACACA | chr17 | 35518964 | - | 0.001586026 | 0.9984139 |
ENST00000431387 | ENST00000360679 | NF1 | chr17 | 29422387 | + | ACACA | chr17 | 35518964 | - | 0.001592263 | 0.9984078 |
ENST00000431387 | ENST00000394406 | NF1 | chr17 | 29422387 | + | ACACA | chr17 | 35518964 | - | 0.001592263 | 0.9984078 |
ENST00000431387 | ENST00000335166 | NF1 | chr17 | 29422387 | + | ACACA | chr17 | 35518964 | - | 0.001925864 | 0.9980742 |
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Fusion Genomic Features for NF1-ACACA |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
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Fusion Protein Features for NF1-ACACA |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr17:29422387/chr17:35518964) - 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. |
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Hgene | Tgene |
NF1 | . |
FUNCTION: Stimulates the GTPase activity of Ras. NF1 shows greater affinity for Ras GAP, but lower specific activity. May be a regulator of Ras activity. {ECO:0000269|PubMed:2121371, ECO:0000269|PubMed:8417346}. | 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}. |
![]() * 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 |
Tgene | ACACA | chr17:29422387 | chr17:35518964 | ENST00000335166 | 39 | 55 | 1576_1914 | 1578 | 2269.0 | Domain | CoA carboxyltransferase N-terminal | |
Tgene | ACACA | chr17:29422387 | chr17:35518964 | ENST00000335166 | 39 | 55 | 1918_2234 | 1578 | 2269.0 | Domain | CoA carboxyltransferase C-terminal | |
Tgene | ACACA | chr17:29422387 | chr17:35518964 | ENST00000353139 | 40 | 56 | 1918_2234 | 1693 | 2384.0 | Domain | CoA carboxyltransferase C-terminal | |
Tgene | ACACA | chr17:29422387 | chr17:35518964 | ENST00000360679 | 38 | 54 | 1918_2234 | 1598 | 2289.0 | Domain | CoA carboxyltransferase C-terminal | |
Tgene | ACACA | chr17:29422387 | chr17:35518964 | ENST00000394406 | 40 | 56 | 1918_2234 | 1656 | 2347.0 | Domain | CoA carboxyltransferase C-terminal | |
Tgene | ACACA | chr17:29422387 | chr17:35518964 | ENST00000335166 | 39 | 55 | 1576_2234 | 1578 | 2269.0 | Region | Carboxyltransferase |
- 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 | NF1 | chr17:29422387 | chr17:35518964 | ENST00000356175 | + | 1 | 57 | 1352_1355 | 20 | 2819.0 | Compositional bias | Note=Poly-Ser |
Hgene | NF1 | chr17:29422387 | chr17:35518964 | ENST00000358273 | + | 1 | 58 | 1352_1355 | 20 | 2840.0 | Compositional bias | Note=Poly-Ser |
Hgene | NF1 | chr17:29422387 | chr17:35518964 | ENST00000431387 | + | 1 | 15 | 1352_1355 | 20 | 594.0 | Compositional bias | Note=Poly-Ser |
Hgene | NF1 | chr17:29422387 | chr17:35518964 | ENST00000356175 | + | 1 | 57 | 1235_1451 | 20 | 2819.0 | Domain | Ras-GAP |
Hgene | NF1 | chr17:29422387 | chr17:35518964 | ENST00000356175 | + | 1 | 57 | 1580_1738 | 20 | 2819.0 | Domain | CRAL-TRIO |
Hgene | NF1 | chr17:29422387 | chr17:35518964 | ENST00000358273 | + | 1 | 58 | 1235_1451 | 20 | 2840.0 | Domain | Ras-GAP |
Hgene | NF1 | chr17:29422387 | chr17:35518964 | ENST00000358273 | + | 1 | 58 | 1580_1738 | 20 | 2840.0 | Domain | CRAL-TRIO |
Hgene | NF1 | chr17:29422387 | chr17:35518964 | ENST00000431387 | + | 1 | 15 | 1235_1451 | 20 | 594.0 | Domain | Ras-GAP |
Hgene | NF1 | chr17:29422387 | chr17:35518964 | ENST00000431387 | + | 1 | 15 | 1580_1738 | 20 | 594.0 | Domain | CRAL-TRIO |
Hgene | NF1 | chr17:29422387 | chr17:35518964 | ENST00000356175 | + | 1 | 57 | 2555_2571 | 20 | 2819.0 | Motif | Note=Bipartite nuclear localization signal |
Hgene | NF1 | chr17:29422387 | chr17:35518964 | ENST00000358273 | + | 1 | 58 | 2555_2571 | 20 | 2840.0 | Motif | Note=Bipartite nuclear localization signal |
Hgene | NF1 | chr17:29422387 | chr17:35518964 | ENST00000431387 | + | 1 | 15 | 2555_2571 | 20 | 594.0 | Motif | Note=Bipartite nuclear localization signal |
Hgene | NF1 | chr17:29422387 | chr17:35518964 | ENST00000356175 | + | 1 | 57 | 1580_1837 | 20 | 2819.0 | Region | Note=Lipid binding |
Hgene | NF1 | chr17:29422387 | chr17:35518964 | ENST00000358273 | + | 1 | 58 | 1580_1837 | 20 | 2840.0 | Region | Note=Lipid binding |
Hgene | NF1 | chr17:29422387 | chr17:35518964 | ENST00000431387 | + | 1 | 15 | 1580_1837 | 20 | 594.0 | Region | Note=Lipid binding |
Tgene | ACACA | chr17:29422387 | chr17:35518964 | ENST00000335166 | 39 | 55 | 117_618 | 1578 | 2269.0 | Domain | Biotin carboxylation | |
Tgene | ACACA | chr17:29422387 | chr17:35518964 | ENST00000335166 | 39 | 55 | 275_466 | 1578 | 2269.0 | Domain | ATP-grasp | |
Tgene | ACACA | chr17:29422387 | chr17:35518964 | ENST00000335166 | 39 | 55 | 745_819 | 1578 | 2269.0 | Domain | Biotinyl-binding | |
Tgene | ACACA | chr17:29422387 | chr17:35518964 | ENST00000353139 | 40 | 56 | 117_618 | 1693 | 2384.0 | Domain | Biotin carboxylation | |
Tgene | ACACA | chr17:29422387 | chr17:35518964 | ENST00000353139 | 40 | 56 | 1576_1914 | 1693 | 2384.0 | Domain | CoA carboxyltransferase N-terminal | |
Tgene | ACACA | chr17:29422387 | chr17:35518964 | ENST00000353139 | 40 | 56 | 275_466 | 1693 | 2384.0 | Domain | ATP-grasp | |
Tgene | ACACA | chr17:29422387 | chr17:35518964 | ENST00000353139 | 40 | 56 | 745_819 | 1693 | 2384.0 | Domain | Biotinyl-binding | |
Tgene | ACACA | chr17:29422387 | chr17:35518964 | ENST00000360679 | 38 | 54 | 117_618 | 1598 | 2289.0 | Domain | Biotin carboxylation | |
Tgene | ACACA | chr17:29422387 | chr17:35518964 | ENST00000360679 | 38 | 54 | 1576_1914 | 1598 | 2289.0 | Domain | CoA carboxyltransferase N-terminal | |
Tgene | ACACA | chr17:29422387 | chr17:35518964 | ENST00000360679 | 38 | 54 | 275_466 | 1598 | 2289.0 | Domain | ATP-grasp | |
Tgene | ACACA | chr17:29422387 | chr17:35518964 | ENST00000360679 | 38 | 54 | 745_819 | 1598 | 2289.0 | Domain | Biotinyl-binding | |
Tgene | ACACA | chr17:29422387 | chr17:35518964 | ENST00000394406 | 40 | 56 | 117_618 | 1656 | 2347.0 | Domain | Biotin carboxylation | |
Tgene | ACACA | chr17:29422387 | chr17:35518964 | ENST00000394406 | 40 | 56 | 1576_1914 | 1656 | 2347.0 | Domain | CoA carboxyltransferase N-terminal | |
Tgene | ACACA | chr17:29422387 | chr17:35518964 | ENST00000394406 | 40 | 56 | 275_466 | 1656 | 2347.0 | Domain | ATP-grasp | |
Tgene | ACACA | chr17:29422387 | chr17:35518964 | ENST00000394406 | 40 | 56 | 745_819 | 1656 | 2347.0 | Domain | Biotinyl-binding | |
Tgene | ACACA | chr17:29422387 | chr17:35518964 | ENST00000335166 | 39 | 55 | 315_320 | 1578 | 2269.0 | Nucleotide binding | ATP | |
Tgene | ACACA | chr17:29422387 | chr17:35518964 | ENST00000353139 | 40 | 56 | 315_320 | 1693 | 2384.0 | Nucleotide binding | ATP | |
Tgene | ACACA | chr17:29422387 | chr17:35518964 | ENST00000360679 | 38 | 54 | 315_320 | 1598 | 2289.0 | Nucleotide binding | ATP | |
Tgene | ACACA | chr17:29422387 | chr17:35518964 | ENST00000394406 | 40 | 56 | 315_320 | 1656 | 2347.0 | Nucleotide binding | ATP | |
Tgene | ACACA | chr17:29422387 | chr17:35518964 | ENST00000353139 | 40 | 56 | 1576_2234 | 1693 | 2384.0 | Region | Carboxyltransferase | |
Tgene | ACACA | chr17:29422387 | chr17:35518964 | ENST00000360679 | 38 | 54 | 1576_2234 | 1598 | 2289.0 | Region | Carboxyltransferase | |
Tgene | ACACA | chr17:29422387 | chr17:35518964 | ENST00000394406 | 40 | 56 | 1576_2234 | 1656 | 2347.0 | Region | Carboxyltransferase |
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Fusion Gene Sequence for NF1-ACACA |
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>58666_58666_1_NF1-ACACA_NF1_chr17_29422387_ENST00000356175_ACACA_chr17_35518964_ENST00000335166_length(transcript)=3015nt_BP=443nt AATCTCTAGCTCGCTCGCGCTCCCTCTCCCCGGGCCGTGGAAAGGATCCCACTTCCGGTGGGGTGTCATGGCGGCGTCTCGGACTGTGAT GGCTGTGGGGAGACGGCGCTAGTGGGGAGAGCGACCAAGAGGCCCCCTCCCCTCCCCGGGTCCCCTTCCCCTATCCCCCTCCCCCCAGCC TCCTTGCCAACGCCCCCTTTCCCTCTCCCCCTCCCGCTCGGCGCTGACCCCCCATCCCCACCCCCGTGGGAACACTGGGAGCCTGCACTC CACAGACCCTCTCCTTGCCTCTTCCCTCACCTCAGCCTCCGCTCCCCGCCCTCTTCCCGGCCCAGGGCGCCGGCCCACCCTTCCCTCCGC CGCCCCCCGGCCGCGGGGAGGACATGGCCGCGCACAGGCCGGTGGAATGGGTCCAGGCCGTGGTCAGCCGCTTCGACGAGCAGATTGGCA TGGTAGCTTGGAAAATGACCTTTAAAAGTCCTGAATATCCAGAAGGCCGAGATATCATTGTTATTGGCAATGACATCACATACCGAATTG GGTCCTTTGGGCCTCAAGAGGATTTGTTATTTCTCAGAGCTTCCGAACTTGCTAGGGCAGAAGGTATTCCACGCATCTATGTATCAGCCA ACAGTGGAGCAAGAATCGGACTGGCAGAAGAAATTCGCCATATGTTTCATGTGGCCTGGGTAGATCCTGAGGATCCTTACAAGGGATACA GGTATTTATATCTGACTCCTCAAGATTATAAGAGAGTCAGTGCTCTCAACTCTGTCCATTGTGAACACGTGGAAGATGAAGGAGAATCCA GGTACAAGATAACAGATATTATTGGGAAAGAAGAGGGAATTGGACCCGAGAACCTTCGAGGTTCTGGAATGATTGCTGGAGAATCCTCAT TGGCCTATAATGAGATCATTACCATCAGCCTGGTGACGTGCCGGGCCATTGGGATTGGGGCTTACCTTGTCCGGCTGGGACAGAGAACCA TCCAGGTTGAGAATTCTCACTTAATTCTAACAGGAGCTGGAGCCCTCAACAAAGTCCTCGGGCGGGAAGTGTACACCTCCAATAACCAGC TGGGGGGCATCCAGATTATGCACAACAATGGGGTGACCCACTGCACTGTGTGTGATGACTTTGAAGGGGTTTTCACTGTCCTGCACTGGC TGTCTTACATGCCCAAGAGCGTGCACAGTTCAGTTCCTCTTCTGAACTCAAAGGATCCTATAGACAGAATCATCGAGTTTGTTCCCACAA AGACCCCATACGATCCTCGATGGATGCTAGCAGGCCGTCCTCACCCAACCCAAAAAGGTCAGTGGTTGAGTGGCTTTTTTGACTATGGAT CTTTCTCAGAGATTATGCAGCCCTGGGCACAGACTGTGGTGGTTGGTAGAGCCAGGCTAGGAGGAATACCTGTGGGAGTTGTTGCTGTAG AAACCCGAACAGTAGAACTAAGTATCCCAGCTGATCCAGCAAACCTGGATTCTGAAGCCAAGATAATCCAGCAGGCTGGCCAGGTTTGGT TCCCAGATTCTGCGTTTAAGACATATCAGGCCATCAAGGACTTCAACCGGGAAGGGCTGCCTCTGATGGTCTTTGCCAACTGGAGAGGCT TCTCTGGTGGAATGAAAGATATGTACGACCAAGTGCTGAAGTTTGGTGCTTACATTGTGGATGGCTTGAGGGAGTGCTGCCAGCCTGTGC TGGTTTACATTCCTCCCCAGGCTGAGCTGCGGGGTGGCTCCTGGGTGGTGATTGACTCCTCCATCAACCCCCGGCACATGGAGATGTATG CTGACCGAGAAAGCAGGGGATCTGTTCTGGAGCCAGAAGGGACAGTAGAAATCAAATTCCGCAGAAAGGATCTGGTGAAAACCATGCGTC GGGTGGACCCAGTCTACATCCACTTGGCTGAGCGATTGGGGACCCCAGAGCTAAGCACAGCTGAGCGGAAGGAGTTGGAGAACAAGTTGA AGGAGCGGGAGGAATTCCTAATTCCCATTTACCATCAGGTAGCCGTGCAGTTTGCTGACTTGCACGACACACCAGGCCGGATGCAGGAGA AGGGTGTTATTAGCGATATCCTGGATTGGAAAACATCCCGTACCTTCTTCTACTGGCGGCTGAGGCGTCTTCTGCTGGAGGACCTGGTCA AGAAGAAAATCCACAATGCCAACCCTGAGCTGACTGATGGCCAGATTCAAGCCATGTTAAGGCGCTGGTTTGTGGAAGTGGAAGGAACAG TGAAGGCTTATGTTTGGGACAATAATAAGGATCTGGCGGAGTGGCTAGAGAAACAGCTGACAGAGGAGGATGGTGTTCACTCGGTAATAG AGGAAAACATCAAATGCATCAGCAGAGACTACGTCCTCAAGCAAATCCGCAGCTTGGTCCAGGCCAATCCAGAGGTTGCCATGGATTCCA TCATCCATATGACGCAGCACATATCACCCACTCAGCGAGCAGAAGTCATACGGATCCTCTCCACAATGGATTCCCCTTCCACGTAGGAAG AGCTTCCTGCCTGTCCCTGCCCTGTCTCTGGAGAAAAGGGCTAGAGCTGCCTTTTACAACTGTAACCACTGTAATGAGAAGGCACAGGAG ACCCAGCACTGGAGTCAAATGGCATTTTACTTCCTCTCGTTTCAGGTTATGCATGACATCCTGGGATGTAAGATCACAGAATCCCCCTCC AGCCCACCAGTCACACCTACCCCATTCAGTATTTATTACCCTGGCCAGGCCTAGTCCTCCACTCCCTGCACAGGACTGAGAAGGCAATGA AAGGTACAAACATGTACCATGAGGTCTTACTAACCAAAGTAGGGCTGCCCCTCCTGTCCTGACAGCCCCTTGGCCTCCCAGCATGGGGAA GCGTGAGGAGTTGCCCAGCAGTGAGCAGCCCCCCTCACTCCTGGCCCCATGAGCCGCAGCCACAGGCAGCAGAGGAGGGCTAAGGAGAGG >58666_58666_1_NF1-ACACA_NF1_chr17_29422387_ENST00000356175_ACACA_chr17_35518964_ENST00000335166_length(amino acids)=753AA_BP=62 MGACTPQTLSLPLPSPQPPLPALFPAQGAGPPFPPPPPGRGEDMAAHRPVEWVQAVVSRFDEQIGMVAWKMTFKSPEYPEGRDIIVIGND ITYRIGSFGPQEDLLFLRASELARAEGIPRIYVSANSGARIGLAEEIRHMFHVAWVDPEDPYKGYRYLYLTPQDYKRVSALNSVHCEHVE DEGESRYKITDIIGKEEGIGPENLRGSGMIAGESSLAYNEIITISLVTCRAIGIGAYLVRLGQRTIQVENSHLILTGAGALNKVLGREVY TSNNQLGGIQIMHNNGVTHCTVCDDFEGVFTVLHWLSYMPKSVHSSVPLLNSKDPIDRIIEFVPTKTPYDPRWMLAGRPHPTQKGQWLSG FFDYGSFSEIMQPWAQTVVVGRARLGGIPVGVVAVETRTVELSIPADPANLDSEAKIIQQAGQVWFPDSAFKTYQAIKDFNREGLPLMVF ANWRGFSGGMKDMYDQVLKFGAYIVDGLRECCQPVLVYIPPQAELRGGSWVVIDSSINPRHMEMYADRESRGSVLEPEGTVEIKFRRKDL VKTMRRVDPVYIHLAERLGTPELSTAERKELENKLKEREEFLIPIYHQVAVQFADLHDTPGRMQEKGVISDILDWKTSRTFFYWRLRRLL LEDLVKKKIHNANPELTDGQIQAMLRRWFVEVEGTVKAYVWDNNKDLAEWLEKQLTEEDGVHSVIEENIKCISRDYVLKQIRSLVQANPE -------------------------------------------------------------- >58666_58666_2_NF1-ACACA_NF1_chr17_29422387_ENST00000356175_ACACA_chr17_35518964_ENST00000353139_length(transcript)=4844nt_BP=443nt AATCTCTAGCTCGCTCGCGCTCCCTCTCCCCGGGCCGTGGAAAGGATCCCACTTCCGGTGGGGTGTCATGGCGGCGTCTCGGACTGTGAT GGCTGTGGGGAGACGGCGCTAGTGGGGAGAGCGACCAAGAGGCCCCCTCCCCTCCCCGGGTCCCCTTCCCCTATCCCCCTCCCCCCAGCC TCCTTGCCAACGCCCCCTTTCCCTCTCCCCCTCCCGCTCGGCGCTGACCCCCCATCCCCACCCCCGTGGGAACACTGGGAGCCTGCACTC CACAGACCCTCTCCTTGCCTCTTCCCTCACCTCAGCCTCCGCTCCCCGCCCTCTTCCCGGCCCAGGGCGCCGGCCCACCCTTCCCTCCGC CGCCCCCCGGCCGCGGGGAGGACATGGCCGCGCACAGGCCGGTGGAATGGGTCCAGGCCGTGGTCAGCCGCTTCGACGAGCAGATTGGCA TGGTAGCTTGGAAAATGACCTTTAAAAGTCCTGAATATCCAGAAGGCCGAGATATCATTGTTATTGGCAATGACATCACATACCGAATTG GGTCCTTTGGGCCTCAAGAGGATTTGTTATTTCTCAGAGCTTCCGAACTTGCTAGGGCAGAAGGTATTCCACGCATCTATGTATCAGCCA ACAGTGGAGCAAGAATCGGACTGGCAGAAGAAATTCGCCATATGTTTCATGTGGCCTGGGTAGATCCTGAGGATCCTTACAAGGGATACA GGTATTTATATCTGACTCCTCAAGATTATAAGAGAGTCAGTGCTCTCAACTCTGTCCATTGTGAACACGTGGAAGATGAAGGAGAATCCA GGTACAAGATAACAGATATTATTGGGAAAGAAGAGGGAATTGGACCCGAGAACCTTCGAGGTTCTGGAATGATTGCTGGAGAATCCTCAT TGGCCTATAATGAGATCATTACCATCAGCCTGGTGACGTGCCGGGCCATTGGGATTGGGGCTTACCTTGTCCGGCTGGGACAGAGAACCA TCCAGGTTGAGAATTCTCACTTAATTCTAACAGGAGCTGGAGCCCTCAACAAAGTCCTCGGGCGGGAAGTGTACACCTCCAATAACCAGC TGGGGGGCATCCAGATTATGCACAACAATGGGGTGACCCACTGCACTGTGTGTGATGACTTTGAAGGGGTTTTCACTGTCCTGCACTGGC TGTCTTACATGCCCAAGAGCGTGCACAGTTCAGTTCCTCTTCTGAACTCAAAGGATCCTATAGACAGAATCATCGAGTTTGTTCCCACAA AGACCCCATACGATCCTCGATGGATGCTAGCAGGCCGTCCTCACCCAACCCAAAAAGGTCAGTGGTTGAGTGGCTTTTTTGACTATGGAT CTTTCTCAGAGATTATGCAGCCCTGGGCACAGACTGTGGTGGTTGGTAGAGCCAGGCTAGGAGGAATACCTGTGGGAGTTGTTGCTGTAG AAACCCGAACAGTAGAACTAAGTATCCCAGCTGATCCAGCAAACCTGGATTCTGAAGCCAAGATAATCCAGCAGGCTGGCCAGGTTTGGT TCCCAGATTCTGCGTTTAAGACATATCAGGCCATCAAGGACTTCAACCGGGAAGGGCTGCCTCTGATGGTCTTTGCCAACTGGAGAGGCT TCTCTGGTGGAATGAAAGATATGTACGACCAAGTGCTGAAGTTTGGTGCTTACATTGTGGATGGCTTGAGGGAGTGCTGCCAGCCTGTGC TGGTTTACATTCCTCCCCAGGCTGAGCTGCGGGGTGGCTCCTGGGTGGTGATTGACTCCTCCATCAACCCCCGGCACATGGAGATGTATG CTGACCGAGAAAGCAGGGGATCTGTTCTGGAGCCAGAAGGGACAGTAGAAATCAAATTCCGCAGAAAGGATCTGGTGAAAACCATGCGTC GGGTGGACCCAGTCTACATCCACTTGGCTGAGCGATTGGGGACCCCAGAGCTAAGCACAGCTGAGCGGAAGGAGTTGGAGAACAAGTTGA AGGAGCGGGAGGAATTCCTAATTCCCATTTACCATCAGGTAGCCGTGCAGTTTGCTGACTTGCACGACACACCAGGCCGGATGCAGGAGA AGGGTGTTATTAGCGATATCCTGGATTGGAAAACATCCCGTACCTTCTTCTACTGGCGGCTGAGGCGTCTTCTGCTGGAGGACCTGGTCA AGAAGAAAATCCACAATGCCAACCCTGAGCTGACTGATGGCCAGATTCAAGCCATGTTAAGGCGCTGGTTTGTGGAAGTGGAAGGAACAG TGAAGGCTTATGTTTGGGACAATAATAAGGATCTGGCGGAGTGGCTAGAGAAACAGCTGACAGAGGAGGATGGTGTTCACTCGGTAATAG AGGAAAACATCAAATGCATCAGCAGAGACTACGTCCTCAAGCAAATCCGCAGCTTGGTCCAGGCCAATCCAGAGGTTGCCATGGATTCCA TCATCCATATGACGCAGCACATATCACCCACTCAGCGAGCAGAAGTCATACGGATCCTCTCCACAATGGATTCCCCTTCCACGTAGGAAG AGCTTCCTGCCTGTCCCTGCCCTGTCTCTGGAGAAAAGGGCTAGAGCTGCCTTTTACAACTGTAACCACTGTAATGAGAAGGCACAGGAG ACCCAGCACTGGAGTCAAATGGCATTTTACTTCCTCTCGTTTCAGGTTATGCATGACATCCTGGGATGTAAGATCACAGAATCCCCCTCC AGCCCACCAGTCACACCTACCCCATTCAGTATTTATTACCCTGGCCAGGCCTAGTCCTCCACTCCCTGCACAGGACTGAGAAGGCAATGA AAGGTACAAACATGTACCATGAGGTCTTACTAACCAAAGTAGGGCTGCCCCTCCTGTCCTGACAGCCCCTTGGCCTCCCAGCATGGGGAA GCGTGAGGAGTTGCCCAGCAGTGAGCAGCCCCCCTCACTCCTGGCCCCATGAGCCGCAGCCACAGGCAGCAGAGGAGGGCTAAGGAGAGG AGGAAGCCTCAAGTCCATTGTTTATTACCCCGACTCTTAGCCCAGCACACAGTAGGCACTGGAGAGGAATGATTCCCAGTTTAACCACAC TACGGTACCTTTTATGAAGAAAAATTAGAGCATAAAATCTACTACAAGCTCCATAGGAACTCAAAGATGAGGGCAAAACTGTGAGCCAAG AAGCAGAGAAAGAAAATAGAACCAGTTATTCTTGATTTAGGGGACCTCAACCTTGGGTTCAGTCTCTGAGGACAAAGGGAAAGGTAGTTG TTGGCCTGCCTCTCGCCTGCACGTCACTGCTGGACTAGCTGTCGCATGTGGCTGGGAGCTGCAAGGCCAGTGCTTGAGGGGCCCCAGCAG TTCCACAGGTGGTGAAGCCTGAGTTGGCAGAGGAGGAGCCAGAAGAGAACTGCCCTTTCTGCACTGGTGGAAACTAGTTATTTATGCCAT GTGGAGAGCCAGTGAGATAGATAGATAGTCTGTTTGTTTTGAGGACTTGGAAAGTTGTTCCTATGAAGCCTGGAGCTTGGATGGTTTTGA GAGGTTAATGGTGCCTCCACACTCACTCTTCCCTAGTTCCAGGATTACTGTCCTAGCAGCTAACGGTTCTACTCTCTTCCCCAGAGTGTA GACAGGCAGCAGGTCTCCCCACAGCTCTGAAAGGACCCTGGTGACAGCTACACCCTCAGCACCAGGAGCTGGCCTTCCTGATGAGGGAGG CTTCCAGGAAACACAGAATCCACATGACCTTAAGATTATTTACAACTCAGTCATGGTGCTGCTGTCCTCCAGGCTTACTGGCCCCTCCTG ACTGGCATCAGGGGCTTCCTCAGGTGGTGGAGAGAGTTTACTTTCAACAACTAGTTTATTCAAGAAAAGAACTTACTGATTCCTCTGTTC CTAAAGCAAGAGTGGCAGGTGATCAGGGCTGGTGTAGCATCCGGTTCCTTTAGTGCAGCTAACTGCATTTGTCACTGATGACCAAGGAGG AAATCACTAAGACATTTGAGAAGCAGTGGTATGAACGTTCTTGGACAAGCCACAGTTCTGAGCCTTAACCCTGTAGTTTGCACACAAGAA CGAGCTCCACCTCCCCTTCTTCAGGAGGAATCTGTGCGGATAGATTGGCTGGACTTTTCAATGGTTCTGGGTTGCAGGTGGGCACTGTAT GGCTGGGTATGGAGCGGACAGCCCCCAGGAGTCAGAGCCTCAGCCCGGCTGCCCTGGTGGAAGGTACAGGTGTTCAGCACCTTCAGAAAA GGGCATAAAGTGGTGGGGGACAATTCTCAGTCCAGGAAAATGCATTGACCATTGCTGGCTATTTGCTTACCTAGTAAGAATTGGATTCAT TTTTGACCAGATTATTCTTCTATGCTTTTTTGCAATAAATCAAATCCCACATATCTACAAGTGGTATGAAGTCCTGCACCCCCCAGGAGG CCTGTCCAGGCATGTCTTCAGAGGCAGGGTGGGTTACACTCATTTACCTCCCCTCTCCCCACCAAATTATGACACAAACGAGTATGTTTC CTCTCTAGAACCCTGTAATGCCTCCTCCCCCATCCCCAGAGCTCCTTACTGTAGGTCTTACCCTGGACAAGGATTTTTTCAAGTTGGAGG CACAGAACATGAGCAATCTGACATTCCCACAGCCCCTCAAACATGCAAGGCTACTAAGGCAGGAGGAGTATAAATGATGGATATTGACCA AGACCTGCTTGGACGGAGACCGCCATATTATCTGTTCTCTTCGTTCACAAAACAGCCTTCACTTGTCTCAGAATTTGATGGACACATACT >58666_58666_2_NF1-ACACA_NF1_chr17_29422387_ENST00000356175_ACACA_chr17_35518964_ENST00000353139_length(amino acids)=753AA_BP=62 MGACTPQTLSLPLPSPQPPLPALFPAQGAGPPFPPPPPGRGEDMAAHRPVEWVQAVVSRFDEQIGMVAWKMTFKSPEYPEGRDIIVIGND ITYRIGSFGPQEDLLFLRASELARAEGIPRIYVSANSGARIGLAEEIRHMFHVAWVDPEDPYKGYRYLYLTPQDYKRVSALNSVHCEHVE DEGESRYKITDIIGKEEGIGPENLRGSGMIAGESSLAYNEIITISLVTCRAIGIGAYLVRLGQRTIQVENSHLILTGAGALNKVLGREVY TSNNQLGGIQIMHNNGVTHCTVCDDFEGVFTVLHWLSYMPKSVHSSVPLLNSKDPIDRIIEFVPTKTPYDPRWMLAGRPHPTQKGQWLSG FFDYGSFSEIMQPWAQTVVVGRARLGGIPVGVVAVETRTVELSIPADPANLDSEAKIIQQAGQVWFPDSAFKTYQAIKDFNREGLPLMVF ANWRGFSGGMKDMYDQVLKFGAYIVDGLRECCQPVLVYIPPQAELRGGSWVVIDSSINPRHMEMYADRESRGSVLEPEGTVEIKFRRKDL VKTMRRVDPVYIHLAERLGTPELSTAERKELENKLKEREEFLIPIYHQVAVQFADLHDTPGRMQEKGVISDILDWKTSRTFFYWRLRRLL LEDLVKKKIHNANPELTDGQIQAMLRRWFVEVEGTVKAYVWDNNKDLAEWLEKQLTEEDGVHSVIEENIKCISRDYVLKQIRSLVQANPE -------------------------------------------------------------- >58666_58666_3_NF1-ACACA_NF1_chr17_29422387_ENST00000356175_ACACA_chr17_35518964_ENST00000360679_length(transcript)=4838nt_BP=443nt AATCTCTAGCTCGCTCGCGCTCCCTCTCCCCGGGCCGTGGAAAGGATCCCACTTCCGGTGGGGTGTCATGGCGGCGTCTCGGACTGTGAT GGCTGTGGGGAGACGGCGCTAGTGGGGAGAGCGACCAAGAGGCCCCCTCCCCTCCCCGGGTCCCCTTCCCCTATCCCCCTCCCCCCAGCC TCCTTGCCAACGCCCCCTTTCCCTCTCCCCCTCCCGCTCGGCGCTGACCCCCCATCCCCACCCCCGTGGGAACACTGGGAGCCTGCACTC CACAGACCCTCTCCTTGCCTCTTCCCTCACCTCAGCCTCCGCTCCCCGCCCTCTTCCCGGCCCAGGGCGCCGGCCCACCCTTCCCTCCGC CGCCCCCCGGCCGCGGGGAGGACATGGCCGCGCACAGGCCGGTGGAATGGGTCCAGGCCGTGGTCAGCCGCTTCGACGAGCAGATTGGCA TGGTAGCTTGGAAAATGACCTTTAAAAGTCCTGAATATCCAGAAGGCCGAGATATCATTGTTATTGGCAATGACATCACATACCGAATTG GGTCCTTTGGGCCTCAAGAGGATTTGTTATTTCTCAGAGCTTCCGAACTTGCTAGGGCAGAAGGTATTCCACGCATCTATGTATCAGCCA ACAGTGGAGCAAGAATCGGACTGGCAGAAGAAATTCGCCATATGTTTCATGTGGCCTGGGTAGATCCTGAGGATCCTTACAAGGGATACA GGTATTTATATCTGACTCCTCAAGATTATAAGAGAGTCAGTGCTCTCAACTCTGTCCATTGTGAACACGTGGAAGATGAAGGAGAATCCA GGTACAAGATAACAGATATTATTGGGAAAGAAGAGGGAATTGGACCCGAGAACCTTCGAGGTTCTGGAATGATTGCTGGAGAATCCTCAT TGGCCTATAATGAGATCATTACCATCAGCCTGGTGACGTGCCGGGCCATTGGGATTGGGGCTTACCTTGTCCGGCTGGGACAGAGAACCA TCCAGGTTGAGAATTCTCACTTAATTCTAACAGGAGCTGGAGCCCTCAACAAAGTCCTCGGGCGGGAAGTGTACACCTCCAATAACCAGC TGGGGGGCATCCAGATTATGCACAACAATGGGGTGACCCACTGCACTGTGTGTGATGACTTTGAAGGGGTTTTCACTGTCCTGCACTGGC TGTCTTACATGCCCAAGAGCGTGCACAGTTCAGTTCCTCTTCTGAACTCAAAGGATCCTATAGACAGAATCATCGAGTTTGTTCCCACAA AGACCCCATACGATCCTCGATGGATGCTAGCAGGCCGTCCTCACCCAACCCAAAAAGGTCAGTGGTTGAGTGGCTTTTTTGACTATGGAT CTTTCTCAGAGATTATGCAGCCCTGGGCACAGACTGTGGTGGTTGGTAGAGCCAGGCTAGGAGGAATACCTGTGGGAGTTGTTGCTGTAG AAACCCGAACAGTAGAACTAAGTATCCCAGCTGATCCAGCAAACCTGGATTCTGAAGCCAAGATAATCCAGCAGGCTGGCCAGGTTTGGT TCCCAGATTCTGCGTTTAAGACATATCAGGCCATCAAGGACTTCAACCGGGAAGGGCTGCCTCTGATGGTCTTTGCCAACTGGAGAGGCT TCTCTGGTGGAATGAAAGATATGTACGACCAAGTGCTGAAGTTTGGTGCTTACATTGTGGATGGCTTGAGGGAGTGCTGCCAGCCTGTGC TGGTTTACATTCCTCCCCAGGCTGAGCTGCGGGGTGGCTCCTGGGTGGTGATTGACTCCTCCATCAACCCCCGGCACATGGAGATGTATG CTGACCGAGAAAGCAGGGGATCTGTTCTGGAGCCAGAAGGGACAGTAGAAATCAAATTCCGCAGAAAGGATCTGGTGAAAACCATGCGTC GGGTGGACCCAGTCTACATCCACTTGGCTGAGCGATTGGGGACCCCAGAGCTAAGCACAGCTGAGCGGAAGGAGTTGGAGAACAAGTTGA AGGAGCGGGAGGAATTCCTAATTCCCATTTACCATCAGGTAGCCGTGCAGTTTGCTGACTTGCACGACACACCAGGCCGGATGCAGGAGA AGGGTGTTATTAGCGATATCCTGGATTGGAAAACATCCCGTACCTTCTTCTACTGGCGGCTGAGGCGTCTTCTGCTGGAGGACCTGGTCA AGAAGAAAATCCACAATGCCAACCCTGAGCTGACTGATGGCCAGATTCAAGCCATGTTAAGGCGCTGGTTTGTGGAAGTGGAAGGAACAG TGAAGGCTTATGTTTGGGACAATAATAAGGATCTGGCGGAGTGGCTAGAGAAACAGCTGACAGAGGAGGATGGTGTTCACTCGGTAATAG AGGAAAACATCAAATGCATCAGCAGAGACTACGTCCTCAAGCAAATCCGCAGCTTGGTCCAGGCCAATCCAGAGGTTGCCATGGATTCCA TCATCCATATGACGCAGCACATATCACCCACTCAGCGAGCAGAAGTCATACGGATCCTCTCCACAATGGATTCCCCTTCCACGTAGGAAG AGCTTCCTGCCTGTCCCTGCCCTGTCTCTGGAGAAAAGGGCTAGAGCTGCCTTTTACAACTGTAACCACTGTAATGAGAAGGCACAGGAG ACCCAGCACTGGAGTCAAATGGCATTTTACTTCCTCTCGTTTCAGGTTATGCATGACATCCTGGGATGTAAGATCACAGAATCCCCCTCC AGCCCACCAGTCACACCTACCCCATTCAGTATTTATTACCCTGGCCAGGCCTAGTCCTCCACTCCCTGCACAGGACTGAGAAGGCAATGA AAGGTACAAACATGTACCATGAGGTCTTACTAACCAAAGTAGGGCTGCCCCTCCTGTCCTGACAGCCCCTTGGCCTCCCAGCATGGGGAA GCGTGAGGAGTTGCCCAGCAGTGAGCAGCCCCCCTCACTCCTGGCCCCATGAGCCGCAGCCACAGGCAGCAGAGGAGGGCTAAGGAGAGG AGGAAGCCTCAAGTCCATTGTTTATTACCCCGACTCTTAGCCCAGCACACAGTAGGCACTGGAGAGGAATGATTCCCAGTTTAACCACAC TACGGTACCTTTTATGAAGAAAAATTAGAGCATAAAATCTACTACAAGCTCCATAGGAACTCAAAGATGAGGGCAAAACTGTGAGCCAAG AAGCAGAGAAAGAAAATAGAACCAGTTATTCTTGATTTAGGGGACCTCAACCTTGGGTTCAGTCTCTGAGGACAAAGGGAAAGGTAGTTG TTGGCCTGCCTCTCGCCTGCACGTCACTGCTGGACTAGCTGTCGCATGTGGCTGGGAGCTGCAAGGCCAGTGCTTGAGGGGCCCCAGCAG TTCCACAGGTGGTGAAGCCTGAGTTGGCAGAGGAGGAGCCAGAAGAGAACTGCCCTTTCTGCACTGGTGGAAACTAGTTATTTATGCCAT GTGGAGAGCCAGTGAGATAGATAGATAGTCTGTTTGTTTTGAGGACTTGGAAAGTTGTTCCTATGAAGCCTGGAGCTTGGATGGTTTTGA GAGGTTAATGGTGCCTCCACACTCACTCTTCCCTAGTTCCAGGATTACTGTCCTAGCAGCTAACGGTTCTACTCTCTTCCCCAGAGTGTA GACAGGCAGCAGGTCTCCCCACAGCTCTGAAAGGACCCTGGTGACAGCTACACCCTCAGCACCAGGAGCTGGCCTTCCTGATGAGGGAGG CTTCCAGGAAACACAGAATCCACATGACCTTAAGATTATTTACAACTCAGTCATGGTGCTGCTGTCCTCCAGGCTTACTGGCCCCTCCTG ACTGGCATCAGGGGCTTCCTCAGGTGGTGGAGAGAGTTTACTTTCAACAACTAGTTTATTCAAGAAAAGAACTTACTGATTCCTCTGTTC CTAAAGCAAGAGTGGCAGGTGATCAGGGCTGGTGTAGCATCCGGTTCCTTTAGTGCAGCTAACTGCATTTGTCACTGATGACCAAGGAGG AAATCACTAAGACATTTGAGAAGCAGTGGTATGAACGTTCTTGGACAAGCCACAGTTCTGAGCCTTAACCCTGTAGTTTGCACACAAGAA CGAGCTCCACCTCCCCTTCTTCAGGAGGAATCTGTGCGGATAGATTGGCTGGACTTTTCAATGGTTCTGGGTTGCAGGTGGGCACTGTAT GGCTGGGTATGGAGCGGACAGCCCCCAGGAGTCAGAGCCTCAGCCCGGCTGCCCTGGTGGAAGGTACAGGTGTTCAGCACCTTCAGAAAA GGGCATAAAGTGGTGGGGGACAATTCTCAGTCCAGGAAAATGCATTGACCATTGCTGGCTATTTGCTTACCTAGTAAGAATTGGATTCAT TTTTGACCAGATTATTCTTCTATGCTTTTTTGCAATAAATCAAATCCCACATATCTACAAGTGGTATGAAGTCCTGCACCCCCCAGGAGG CCTGTCCAGGCATGTCTTCAGAGGCAGGGTGGGTTACACTCATTTACCTCCCCTCTCCCCACCAAATTATGACACAAACGAGTATGTTTC CTCTCTAGAACCCTGTAATGCCTCCTCCCCCATCCCCAGAGCTCCTTACTGTAGGTCTTACCCTGGACAAGGATTTTTTCAAGTTGGAGG CACAGAACATGAGCAATCTGACATTCCCACAGCCCCTCAAACATGCAAGGCTACTAAGGCAGGAGGAGTATAAATGATGGATATTGACCA AGACCTGCTTGGACGGAGACCGCCATATTATCTGTTCTCTTCGTTCACAAAACAGCCTTCACTTGTCTCAGAATTTGATGGACACATACT >58666_58666_3_NF1-ACACA_NF1_chr17_29422387_ENST00000356175_ACACA_chr17_35518964_ENST00000360679_length(amino acids)=753AA_BP=62 MGACTPQTLSLPLPSPQPPLPALFPAQGAGPPFPPPPPGRGEDMAAHRPVEWVQAVVSRFDEQIGMVAWKMTFKSPEYPEGRDIIVIGND ITYRIGSFGPQEDLLFLRASELARAEGIPRIYVSANSGARIGLAEEIRHMFHVAWVDPEDPYKGYRYLYLTPQDYKRVSALNSVHCEHVE DEGESRYKITDIIGKEEGIGPENLRGSGMIAGESSLAYNEIITISLVTCRAIGIGAYLVRLGQRTIQVENSHLILTGAGALNKVLGREVY TSNNQLGGIQIMHNNGVTHCTVCDDFEGVFTVLHWLSYMPKSVHSSVPLLNSKDPIDRIIEFVPTKTPYDPRWMLAGRPHPTQKGQWLSG FFDYGSFSEIMQPWAQTVVVGRARLGGIPVGVVAVETRTVELSIPADPANLDSEAKIIQQAGQVWFPDSAFKTYQAIKDFNREGLPLMVF ANWRGFSGGMKDMYDQVLKFGAYIVDGLRECCQPVLVYIPPQAELRGGSWVVIDSSINPRHMEMYADRESRGSVLEPEGTVEIKFRRKDL VKTMRRVDPVYIHLAERLGTPELSTAERKELENKLKEREEFLIPIYHQVAVQFADLHDTPGRMQEKGVISDILDWKTSRTFFYWRLRRLL LEDLVKKKIHNANPELTDGQIQAMLRRWFVEVEGTVKAYVWDNNKDLAEWLEKQLTEEDGVHSVIEENIKCISRDYVLKQIRSLVQANPE -------------------------------------------------------------- >58666_58666_4_NF1-ACACA_NF1_chr17_29422387_ENST00000356175_ACACA_chr17_35518964_ENST00000394406_length(transcript)=4838nt_BP=443nt AATCTCTAGCTCGCTCGCGCTCCCTCTCCCCGGGCCGTGGAAAGGATCCCACTTCCGGTGGGGTGTCATGGCGGCGTCTCGGACTGTGAT GGCTGTGGGGAGACGGCGCTAGTGGGGAGAGCGACCAAGAGGCCCCCTCCCCTCCCCGGGTCCCCTTCCCCTATCCCCCTCCCCCCAGCC TCCTTGCCAACGCCCCCTTTCCCTCTCCCCCTCCCGCTCGGCGCTGACCCCCCATCCCCACCCCCGTGGGAACACTGGGAGCCTGCACTC CACAGACCCTCTCCTTGCCTCTTCCCTCACCTCAGCCTCCGCTCCCCGCCCTCTTCCCGGCCCAGGGCGCCGGCCCACCCTTCCCTCCGC CGCCCCCCGGCCGCGGGGAGGACATGGCCGCGCACAGGCCGGTGGAATGGGTCCAGGCCGTGGTCAGCCGCTTCGACGAGCAGATTGGCA TGGTAGCTTGGAAAATGACCTTTAAAAGTCCTGAATATCCAGAAGGCCGAGATATCATTGTTATTGGCAATGACATCACATACCGAATTG GGTCCTTTGGGCCTCAAGAGGATTTGTTATTTCTCAGAGCTTCCGAACTTGCTAGGGCAGAAGGTATTCCACGCATCTATGTATCAGCCA ACAGTGGAGCAAGAATCGGACTGGCAGAAGAAATTCGCCATATGTTTCATGTGGCCTGGGTAGATCCTGAGGATCCTTACAAGGGATACA GGTATTTATATCTGACTCCTCAAGATTATAAGAGAGTCAGTGCTCTCAACTCTGTCCATTGTGAACACGTGGAAGATGAAGGAGAATCCA GGTACAAGATAACAGATATTATTGGGAAAGAAGAGGGAATTGGACCCGAGAACCTTCGAGGTTCTGGAATGATTGCTGGAGAATCCTCAT TGGCCTATAATGAGATCATTACCATCAGCCTGGTGACGTGCCGGGCCATTGGGATTGGGGCTTACCTTGTCCGGCTGGGACAGAGAACCA TCCAGGTTGAGAATTCTCACTTAATTCTAACAGGAGCTGGAGCCCTCAACAAAGTCCTCGGGCGGGAAGTGTACACCTCCAATAACCAGC TGGGGGGCATCCAGATTATGCACAACAATGGGGTGACCCACTGCACTGTGTGTGATGACTTTGAAGGGGTTTTCACTGTCCTGCACTGGC TGTCTTACATGCCCAAGAGCGTGCACAGTTCAGTTCCTCTTCTGAACTCAAAGGATCCTATAGACAGAATCATCGAGTTTGTTCCCACAA AGACCCCATACGATCCTCGATGGATGCTAGCAGGCCGTCCTCACCCAACCCAAAAAGGTCAGTGGTTGAGTGGCTTTTTTGACTATGGAT CTTTCTCAGAGATTATGCAGCCCTGGGCACAGACTGTGGTGGTTGGTAGAGCCAGGCTAGGAGGAATACCTGTGGGAGTTGTTGCTGTAG AAACCCGAACAGTAGAACTAAGTATCCCAGCTGATCCAGCAAACCTGGATTCTGAAGCCAAGATAATCCAGCAGGCTGGCCAGGTTTGGT TCCCAGATTCTGCGTTTAAGACATATCAGGCCATCAAGGACTTCAACCGGGAAGGGCTGCCTCTGATGGTCTTTGCCAACTGGAGAGGCT TCTCTGGTGGAATGAAAGATATGTACGACCAAGTGCTGAAGTTTGGTGCTTACATTGTGGATGGCTTGAGGGAGTGCTGCCAGCCTGTGC TGGTTTACATTCCTCCCCAGGCTGAGCTGCGGGGTGGCTCCTGGGTGGTGATTGACTCCTCCATCAACCCCCGGCACATGGAGATGTATG CTGACCGAGAAAGCAGGGGATCTGTTCTGGAGCCAGAAGGGACAGTAGAAATCAAATTCCGCAGAAAGGATCTGGTGAAAACCATGCGTC GGGTGGACCCAGTCTACATCCACTTGGCTGAGCGATTGGGGACCCCAGAGCTAAGCACAGCTGAGCGGAAGGAGTTGGAGAACAAGTTGA AGGAGCGGGAGGAATTCCTAATTCCCATTTACCATCAGGTAGCCGTGCAGTTTGCTGACTTGCACGACACACCAGGCCGGATGCAGGAGA AGGGTGTTATTAGCGATATCCTGGATTGGAAAACATCCCGTACCTTCTTCTACTGGCGGCTGAGGCGTCTTCTGCTGGAGGACCTGGTCA AGAAGAAAATCCACAATGCCAACCCTGAGCTGACTGATGGCCAGATTCAAGCCATGTTAAGGCGCTGGTTTGTGGAAGTGGAAGGAACAG TGAAGGCTTATGTTTGGGACAATAATAAGGATCTGGCGGAGTGGCTAGAGAAACAGCTGACAGAGGAGGATGGTGTTCACTCGGTAATAG AGGAAAACATCAAATGCATCAGCAGAGACTACGTCCTCAAGCAAATCCGCAGCTTGGTCCAGGCCAATCCAGAGGTTGCCATGGATTCCA TCATCCATATGACGCAGCACATATCACCCACTCAGCGAGCAGAAGTCATACGGATCCTCTCCACAATGGATTCCCCTTCCACGTAGGAAG AGCTTCCTGCCTGTCCCTGCCCTGTCTCTGGAGAAAAGGGCTAGAGCTGCCTTTTACAACTGTAACCACTGTAATGAGAAGGCACAGGAG ACCCAGCACTGGAGTCAAATGGCATTTTACTTCCTCTCGTTTCAGGTTATGCATGACATCCTGGGATGTAAGATCACAGAATCCCCCTCC AGCCCACCAGTCACACCTACCCCATTCAGTATTTATTACCCTGGCCAGGCCTAGTCCTCCACTCCCTGCACAGGACTGAGAAGGCAATGA AAGGTACAAACATGTACCATGAGGTCTTACTAACCAAAGTAGGGCTGCCCCTCCTGTCCTGACAGCCCCTTGGCCTCCCAGCATGGGGAA GCGTGAGGAGTTGCCCAGCAGTGAGCAGCCCCCCTCACTCCTGGCCCCATGAGCCGCAGCCACAGGCAGCAGAGGAGGGCTAAGGAGAGG AGGAAGCCTCAAGTCCATTGTTTATTACCCCGACTCTTAGCCCAGCACACAGTAGGCACTGGAGAGGAATGATTCCCAGTTTAACCACAC TACGGTACCTTTTATGAAGAAAAATTAGAGCATAAAATCTACTACAAGCTCCATAGGAACTCAAAGATGAGGGCAAAACTGTGAGCCAAG AAGCAGAGAAAGAAAATAGAACCAGTTATTCTTGATTTAGGGGACCTCAACCTTGGGTTCAGTCTCTGAGGACAAAGGGAAAGGTAGTTG TTGGCCTGCCTCTCGCCTGCACGTCACTGCTGGACTAGCTGTCGCATGTGGCTGGGAGCTGCAAGGCCAGTGCTTGAGGGGCCCCAGCAG TTCCACAGGTGGTGAAGCCTGAGTTGGCAGAGGAGGAGCCAGAAGAGAACTGCCCTTTCTGCACTGGTGGAAACTAGTTATTTATGCCAT GTGGAGAGCCAGTGAGATAGATAGATAGTCTGTTTGTTTTGAGGACTTGGAAAGTTGTTCCTATGAAGCCTGGAGCTTGGATGGTTTTGA GAGGTTAATGGTGCCTCCACACTCACTCTTCCCTAGTTCCAGGATTACTGTCCTAGCAGCTAACGGTTCTACTCTCTTCCCCAGAGTGTA GACAGGCAGCAGGTCTCCCCACAGCTCTGAAAGGACCCTGGTGACAGCTACACCCTCAGCACCAGGAGCTGGCCTTCCTGATGAGGGAGG CTTCCAGGAAACACAGAATCCACATGACCTTAAGATTATTTACAACTCAGTCATGGTGCTGCTGTCCTCCAGGCTTACTGGCCCCTCCTG ACTGGCATCAGGGGCTTCCTCAGGTGGTGGAGAGAGTTTACTTTCAACAACTAGTTTATTCAAGAAAAGAACTTACTGATTCCTCTGTTC CTAAAGCAAGAGTGGCAGGTGATCAGGGCTGGTGTAGCATCCGGTTCCTTTAGTGCAGCTAACTGCATTTGTCACTGATGACCAAGGAGG AAATCACTAAGACATTTGAGAAGCAGTGGTATGAACGTTCTTGGACAAGCCACAGTTCTGAGCCTTAACCCTGTAGTTTGCACACAAGAA CGAGCTCCACCTCCCCTTCTTCAGGAGGAATCTGTGCGGATAGATTGGCTGGACTTTTCAATGGTTCTGGGTTGCAGGTGGGCACTGTAT GGCTGGGTATGGAGCGGACAGCCCCCAGGAGTCAGAGCCTCAGCCCGGCTGCCCTGGTGGAAGGTACAGGTGTTCAGCACCTTCAGAAAA GGGCATAAAGTGGTGGGGGACAATTCTCAGTCCAGGAAAATGCATTGACCATTGCTGGCTATTTGCTTACCTAGTAAGAATTGGATTCAT TTTTGACCAGATTATTCTTCTATGCTTTTTTGCAATAAATCAAATCCCACATATCTACAAGTGGTATGAAGTCCTGCACCCCCCAGGAGG CCTGTCCAGGCATGTCTTCAGAGGCAGGGTGGGTTACACTCATTTACCTCCCCTCTCCCCACCAAATTATGACACAAACGAGTATGTTTC CTCTCTAGAACCCTGTAATGCCTCCTCCCCCATCCCCAGAGCTCCTTACTGTAGGTCTTACCCTGGACAAGGATTTTTTCAAGTTGGAGG CACAGAACATGAGCAATCTGACATTCCCACAGCCCCTCAAACATGCAAGGCTACTAAGGCAGGAGGAGTATAAATGATGGATATTGACCA AGACCTGCTTGGACGGAGACCGCCATATTATCTGTTCTCTTCGTTCACAAAACAGCCTTCACTTGTCTCAGAATTTGATGGACACATACT >58666_58666_4_NF1-ACACA_NF1_chr17_29422387_ENST00000356175_ACACA_chr17_35518964_ENST00000394406_length(amino acids)=753AA_BP=62 MGACTPQTLSLPLPSPQPPLPALFPAQGAGPPFPPPPPGRGEDMAAHRPVEWVQAVVSRFDEQIGMVAWKMTFKSPEYPEGRDIIVIGND ITYRIGSFGPQEDLLFLRASELARAEGIPRIYVSANSGARIGLAEEIRHMFHVAWVDPEDPYKGYRYLYLTPQDYKRVSALNSVHCEHVE DEGESRYKITDIIGKEEGIGPENLRGSGMIAGESSLAYNEIITISLVTCRAIGIGAYLVRLGQRTIQVENSHLILTGAGALNKVLGREVY TSNNQLGGIQIMHNNGVTHCTVCDDFEGVFTVLHWLSYMPKSVHSSVPLLNSKDPIDRIIEFVPTKTPYDPRWMLAGRPHPTQKGQWLSG FFDYGSFSEIMQPWAQTVVVGRARLGGIPVGVVAVETRTVELSIPADPANLDSEAKIIQQAGQVWFPDSAFKTYQAIKDFNREGLPLMVF ANWRGFSGGMKDMYDQVLKFGAYIVDGLRECCQPVLVYIPPQAELRGGSWVVIDSSINPRHMEMYADRESRGSVLEPEGTVEIKFRRKDL VKTMRRVDPVYIHLAERLGTPELSTAERKELENKLKEREEFLIPIYHQVAVQFADLHDTPGRMQEKGVISDILDWKTSRTFFYWRLRRLL LEDLVKKKIHNANPELTDGQIQAMLRRWFVEVEGTVKAYVWDNNKDLAEWLEKQLTEEDGVHSVIEENIKCISRDYVLKQIRSLVQANPE -------------------------------------------------------------- >58666_58666_5_NF1-ACACA_NF1_chr17_29422387_ENST00000358273_ACACA_chr17_35518964_ENST00000335166_length(transcript)=3015nt_BP=443nt AATCTCTAGCTCGCTCGCGCTCCCTCTCCCCGGGCCGTGGAAAGGATCCCACTTCCGGTGGGGTGTCATGGCGGCGTCTCGGACTGTGAT GGCTGTGGGGAGACGGCGCTAGTGGGGAGAGCGACCAAGAGGCCCCCTCCCCTCCCCGGGTCCCCTTCCCCTATCCCCCTCCCCCCAGCC TCCTTGCCAACGCCCCCTTTCCCTCTCCCCCTCCCGCTCGGCGCTGACCCCCCATCCCCACCCCCGTGGGAACACTGGGAGCCTGCACTC CACAGACCCTCTCCTTGCCTCTTCCCTCACCTCAGCCTCCGCTCCCCGCCCTCTTCCCGGCCCAGGGCGCCGGCCCACCCTTCCCTCCGC CGCCCCCCGGCCGCGGGGAGGACATGGCCGCGCACAGGCCGGTGGAATGGGTCCAGGCCGTGGTCAGCCGCTTCGACGAGCAGATTGGCA TGGTAGCTTGGAAAATGACCTTTAAAAGTCCTGAATATCCAGAAGGCCGAGATATCATTGTTATTGGCAATGACATCACATACCGAATTG GGTCCTTTGGGCCTCAAGAGGATTTGTTATTTCTCAGAGCTTCCGAACTTGCTAGGGCAGAAGGTATTCCACGCATCTATGTATCAGCCA ACAGTGGAGCAAGAATCGGACTGGCAGAAGAAATTCGCCATATGTTTCATGTGGCCTGGGTAGATCCTGAGGATCCTTACAAGGGATACA GGTATTTATATCTGACTCCTCAAGATTATAAGAGAGTCAGTGCTCTCAACTCTGTCCATTGTGAACACGTGGAAGATGAAGGAGAATCCA GGTACAAGATAACAGATATTATTGGGAAAGAAGAGGGAATTGGACCCGAGAACCTTCGAGGTTCTGGAATGATTGCTGGAGAATCCTCAT TGGCCTATAATGAGATCATTACCATCAGCCTGGTGACGTGCCGGGCCATTGGGATTGGGGCTTACCTTGTCCGGCTGGGACAGAGAACCA TCCAGGTTGAGAATTCTCACTTAATTCTAACAGGAGCTGGAGCCCTCAACAAAGTCCTCGGGCGGGAAGTGTACACCTCCAATAACCAGC TGGGGGGCATCCAGATTATGCACAACAATGGGGTGACCCACTGCACTGTGTGTGATGACTTTGAAGGGGTTTTCACTGTCCTGCACTGGC TGTCTTACATGCCCAAGAGCGTGCACAGTTCAGTTCCTCTTCTGAACTCAAAGGATCCTATAGACAGAATCATCGAGTTTGTTCCCACAA AGACCCCATACGATCCTCGATGGATGCTAGCAGGCCGTCCTCACCCAACCCAAAAAGGTCAGTGGTTGAGTGGCTTTTTTGACTATGGAT CTTTCTCAGAGATTATGCAGCCCTGGGCACAGACTGTGGTGGTTGGTAGAGCCAGGCTAGGAGGAATACCTGTGGGAGTTGTTGCTGTAG AAACCCGAACAGTAGAACTAAGTATCCCAGCTGATCCAGCAAACCTGGATTCTGAAGCCAAGATAATCCAGCAGGCTGGCCAGGTTTGGT TCCCAGATTCTGCGTTTAAGACATATCAGGCCATCAAGGACTTCAACCGGGAAGGGCTGCCTCTGATGGTCTTTGCCAACTGGAGAGGCT TCTCTGGTGGAATGAAAGATATGTACGACCAAGTGCTGAAGTTTGGTGCTTACATTGTGGATGGCTTGAGGGAGTGCTGCCAGCCTGTGC TGGTTTACATTCCTCCCCAGGCTGAGCTGCGGGGTGGCTCCTGGGTGGTGATTGACTCCTCCATCAACCCCCGGCACATGGAGATGTATG CTGACCGAGAAAGCAGGGGATCTGTTCTGGAGCCAGAAGGGACAGTAGAAATCAAATTCCGCAGAAAGGATCTGGTGAAAACCATGCGTC GGGTGGACCCAGTCTACATCCACTTGGCTGAGCGATTGGGGACCCCAGAGCTAAGCACAGCTGAGCGGAAGGAGTTGGAGAACAAGTTGA AGGAGCGGGAGGAATTCCTAATTCCCATTTACCATCAGGTAGCCGTGCAGTTTGCTGACTTGCACGACACACCAGGCCGGATGCAGGAGA AGGGTGTTATTAGCGATATCCTGGATTGGAAAACATCCCGTACCTTCTTCTACTGGCGGCTGAGGCGTCTTCTGCTGGAGGACCTGGTCA AGAAGAAAATCCACAATGCCAACCCTGAGCTGACTGATGGCCAGATTCAAGCCATGTTAAGGCGCTGGTTTGTGGAAGTGGAAGGAACAG TGAAGGCTTATGTTTGGGACAATAATAAGGATCTGGCGGAGTGGCTAGAGAAACAGCTGACAGAGGAGGATGGTGTTCACTCGGTAATAG AGGAAAACATCAAATGCATCAGCAGAGACTACGTCCTCAAGCAAATCCGCAGCTTGGTCCAGGCCAATCCAGAGGTTGCCATGGATTCCA TCATCCATATGACGCAGCACATATCACCCACTCAGCGAGCAGAAGTCATACGGATCCTCTCCACAATGGATTCCCCTTCCACGTAGGAAG AGCTTCCTGCCTGTCCCTGCCCTGTCTCTGGAGAAAAGGGCTAGAGCTGCCTTTTACAACTGTAACCACTGTAATGAGAAGGCACAGGAG ACCCAGCACTGGAGTCAAATGGCATTTTACTTCCTCTCGTTTCAGGTTATGCATGACATCCTGGGATGTAAGATCACAGAATCCCCCTCC AGCCCACCAGTCACACCTACCCCATTCAGTATTTATTACCCTGGCCAGGCCTAGTCCTCCACTCCCTGCACAGGACTGAGAAGGCAATGA AAGGTACAAACATGTACCATGAGGTCTTACTAACCAAAGTAGGGCTGCCCCTCCTGTCCTGACAGCCCCTTGGCCTCCCAGCATGGGGAA GCGTGAGGAGTTGCCCAGCAGTGAGCAGCCCCCCTCACTCCTGGCCCCATGAGCCGCAGCCACAGGCAGCAGAGGAGGGCTAAGGAGAGG >58666_58666_5_NF1-ACACA_NF1_chr17_29422387_ENST00000358273_ACACA_chr17_35518964_ENST00000335166_length(amino acids)=753AA_BP=62 MGACTPQTLSLPLPSPQPPLPALFPAQGAGPPFPPPPPGRGEDMAAHRPVEWVQAVVSRFDEQIGMVAWKMTFKSPEYPEGRDIIVIGND ITYRIGSFGPQEDLLFLRASELARAEGIPRIYVSANSGARIGLAEEIRHMFHVAWVDPEDPYKGYRYLYLTPQDYKRVSALNSVHCEHVE DEGESRYKITDIIGKEEGIGPENLRGSGMIAGESSLAYNEIITISLVTCRAIGIGAYLVRLGQRTIQVENSHLILTGAGALNKVLGREVY TSNNQLGGIQIMHNNGVTHCTVCDDFEGVFTVLHWLSYMPKSVHSSVPLLNSKDPIDRIIEFVPTKTPYDPRWMLAGRPHPTQKGQWLSG FFDYGSFSEIMQPWAQTVVVGRARLGGIPVGVVAVETRTVELSIPADPANLDSEAKIIQQAGQVWFPDSAFKTYQAIKDFNREGLPLMVF ANWRGFSGGMKDMYDQVLKFGAYIVDGLRECCQPVLVYIPPQAELRGGSWVVIDSSINPRHMEMYADRESRGSVLEPEGTVEIKFRRKDL VKTMRRVDPVYIHLAERLGTPELSTAERKELENKLKEREEFLIPIYHQVAVQFADLHDTPGRMQEKGVISDILDWKTSRTFFYWRLRRLL LEDLVKKKIHNANPELTDGQIQAMLRRWFVEVEGTVKAYVWDNNKDLAEWLEKQLTEEDGVHSVIEENIKCISRDYVLKQIRSLVQANPE -------------------------------------------------------------- >58666_58666_6_NF1-ACACA_NF1_chr17_29422387_ENST00000358273_ACACA_chr17_35518964_ENST00000353139_length(transcript)=4844nt_BP=443nt AATCTCTAGCTCGCTCGCGCTCCCTCTCCCCGGGCCGTGGAAAGGATCCCACTTCCGGTGGGGTGTCATGGCGGCGTCTCGGACTGTGAT GGCTGTGGGGAGACGGCGCTAGTGGGGAGAGCGACCAAGAGGCCCCCTCCCCTCCCCGGGTCCCCTTCCCCTATCCCCCTCCCCCCAGCC TCCTTGCCAACGCCCCCTTTCCCTCTCCCCCTCCCGCTCGGCGCTGACCCCCCATCCCCACCCCCGTGGGAACACTGGGAGCCTGCACTC CACAGACCCTCTCCTTGCCTCTTCCCTCACCTCAGCCTCCGCTCCCCGCCCTCTTCCCGGCCCAGGGCGCCGGCCCACCCTTCCCTCCGC CGCCCCCCGGCCGCGGGGAGGACATGGCCGCGCACAGGCCGGTGGAATGGGTCCAGGCCGTGGTCAGCCGCTTCGACGAGCAGATTGGCA TGGTAGCTTGGAAAATGACCTTTAAAAGTCCTGAATATCCAGAAGGCCGAGATATCATTGTTATTGGCAATGACATCACATACCGAATTG GGTCCTTTGGGCCTCAAGAGGATTTGTTATTTCTCAGAGCTTCCGAACTTGCTAGGGCAGAAGGTATTCCACGCATCTATGTATCAGCCA ACAGTGGAGCAAGAATCGGACTGGCAGAAGAAATTCGCCATATGTTTCATGTGGCCTGGGTAGATCCTGAGGATCCTTACAAGGGATACA GGTATTTATATCTGACTCCTCAAGATTATAAGAGAGTCAGTGCTCTCAACTCTGTCCATTGTGAACACGTGGAAGATGAAGGAGAATCCA GGTACAAGATAACAGATATTATTGGGAAAGAAGAGGGAATTGGACCCGAGAACCTTCGAGGTTCTGGAATGATTGCTGGAGAATCCTCAT TGGCCTATAATGAGATCATTACCATCAGCCTGGTGACGTGCCGGGCCATTGGGATTGGGGCTTACCTTGTCCGGCTGGGACAGAGAACCA TCCAGGTTGAGAATTCTCACTTAATTCTAACAGGAGCTGGAGCCCTCAACAAAGTCCTCGGGCGGGAAGTGTACACCTCCAATAACCAGC TGGGGGGCATCCAGATTATGCACAACAATGGGGTGACCCACTGCACTGTGTGTGATGACTTTGAAGGGGTTTTCACTGTCCTGCACTGGC TGTCTTACATGCCCAAGAGCGTGCACAGTTCAGTTCCTCTTCTGAACTCAAAGGATCCTATAGACAGAATCATCGAGTTTGTTCCCACAA AGACCCCATACGATCCTCGATGGATGCTAGCAGGCCGTCCTCACCCAACCCAAAAAGGTCAGTGGTTGAGTGGCTTTTTTGACTATGGAT CTTTCTCAGAGATTATGCAGCCCTGGGCACAGACTGTGGTGGTTGGTAGAGCCAGGCTAGGAGGAATACCTGTGGGAGTTGTTGCTGTAG AAACCCGAACAGTAGAACTAAGTATCCCAGCTGATCCAGCAAACCTGGATTCTGAAGCCAAGATAATCCAGCAGGCTGGCCAGGTTTGGT TCCCAGATTCTGCGTTTAAGACATATCAGGCCATCAAGGACTTCAACCGGGAAGGGCTGCCTCTGATGGTCTTTGCCAACTGGAGAGGCT TCTCTGGTGGAATGAAAGATATGTACGACCAAGTGCTGAAGTTTGGTGCTTACATTGTGGATGGCTTGAGGGAGTGCTGCCAGCCTGTGC TGGTTTACATTCCTCCCCAGGCTGAGCTGCGGGGTGGCTCCTGGGTGGTGATTGACTCCTCCATCAACCCCCGGCACATGGAGATGTATG CTGACCGAGAAAGCAGGGGATCTGTTCTGGAGCCAGAAGGGACAGTAGAAATCAAATTCCGCAGAAAGGATCTGGTGAAAACCATGCGTC GGGTGGACCCAGTCTACATCCACTTGGCTGAGCGATTGGGGACCCCAGAGCTAAGCACAGCTGAGCGGAAGGAGTTGGAGAACAAGTTGA AGGAGCGGGAGGAATTCCTAATTCCCATTTACCATCAGGTAGCCGTGCAGTTTGCTGACTTGCACGACACACCAGGCCGGATGCAGGAGA AGGGTGTTATTAGCGATATCCTGGATTGGAAAACATCCCGTACCTTCTTCTACTGGCGGCTGAGGCGTCTTCTGCTGGAGGACCTGGTCA AGAAGAAAATCCACAATGCCAACCCTGAGCTGACTGATGGCCAGATTCAAGCCATGTTAAGGCGCTGGTTTGTGGAAGTGGAAGGAACAG TGAAGGCTTATGTTTGGGACAATAATAAGGATCTGGCGGAGTGGCTAGAGAAACAGCTGACAGAGGAGGATGGTGTTCACTCGGTAATAG AGGAAAACATCAAATGCATCAGCAGAGACTACGTCCTCAAGCAAATCCGCAGCTTGGTCCAGGCCAATCCAGAGGTTGCCATGGATTCCA TCATCCATATGACGCAGCACATATCACCCACTCAGCGAGCAGAAGTCATACGGATCCTCTCCACAATGGATTCCCCTTCCACGTAGGAAG AGCTTCCTGCCTGTCCCTGCCCTGTCTCTGGAGAAAAGGGCTAGAGCTGCCTTTTACAACTGTAACCACTGTAATGAGAAGGCACAGGAG ACCCAGCACTGGAGTCAAATGGCATTTTACTTCCTCTCGTTTCAGGTTATGCATGACATCCTGGGATGTAAGATCACAGAATCCCCCTCC AGCCCACCAGTCACACCTACCCCATTCAGTATTTATTACCCTGGCCAGGCCTAGTCCTCCACTCCCTGCACAGGACTGAGAAGGCAATGA AAGGTACAAACATGTACCATGAGGTCTTACTAACCAAAGTAGGGCTGCCCCTCCTGTCCTGACAGCCCCTTGGCCTCCCAGCATGGGGAA GCGTGAGGAGTTGCCCAGCAGTGAGCAGCCCCCCTCACTCCTGGCCCCATGAGCCGCAGCCACAGGCAGCAGAGGAGGGCTAAGGAGAGG AGGAAGCCTCAAGTCCATTGTTTATTACCCCGACTCTTAGCCCAGCACACAGTAGGCACTGGAGAGGAATGATTCCCAGTTTAACCACAC TACGGTACCTTTTATGAAGAAAAATTAGAGCATAAAATCTACTACAAGCTCCATAGGAACTCAAAGATGAGGGCAAAACTGTGAGCCAAG AAGCAGAGAAAGAAAATAGAACCAGTTATTCTTGATTTAGGGGACCTCAACCTTGGGTTCAGTCTCTGAGGACAAAGGGAAAGGTAGTTG TTGGCCTGCCTCTCGCCTGCACGTCACTGCTGGACTAGCTGTCGCATGTGGCTGGGAGCTGCAAGGCCAGTGCTTGAGGGGCCCCAGCAG TTCCACAGGTGGTGAAGCCTGAGTTGGCAGAGGAGGAGCCAGAAGAGAACTGCCCTTTCTGCACTGGTGGAAACTAGTTATTTATGCCAT GTGGAGAGCCAGTGAGATAGATAGATAGTCTGTTTGTTTTGAGGACTTGGAAAGTTGTTCCTATGAAGCCTGGAGCTTGGATGGTTTTGA GAGGTTAATGGTGCCTCCACACTCACTCTTCCCTAGTTCCAGGATTACTGTCCTAGCAGCTAACGGTTCTACTCTCTTCCCCAGAGTGTA GACAGGCAGCAGGTCTCCCCACAGCTCTGAAAGGACCCTGGTGACAGCTACACCCTCAGCACCAGGAGCTGGCCTTCCTGATGAGGGAGG CTTCCAGGAAACACAGAATCCACATGACCTTAAGATTATTTACAACTCAGTCATGGTGCTGCTGTCCTCCAGGCTTACTGGCCCCTCCTG ACTGGCATCAGGGGCTTCCTCAGGTGGTGGAGAGAGTTTACTTTCAACAACTAGTTTATTCAAGAAAAGAACTTACTGATTCCTCTGTTC CTAAAGCAAGAGTGGCAGGTGATCAGGGCTGGTGTAGCATCCGGTTCCTTTAGTGCAGCTAACTGCATTTGTCACTGATGACCAAGGAGG AAATCACTAAGACATTTGAGAAGCAGTGGTATGAACGTTCTTGGACAAGCCACAGTTCTGAGCCTTAACCCTGTAGTTTGCACACAAGAA CGAGCTCCACCTCCCCTTCTTCAGGAGGAATCTGTGCGGATAGATTGGCTGGACTTTTCAATGGTTCTGGGTTGCAGGTGGGCACTGTAT GGCTGGGTATGGAGCGGACAGCCCCCAGGAGTCAGAGCCTCAGCCCGGCTGCCCTGGTGGAAGGTACAGGTGTTCAGCACCTTCAGAAAA GGGCATAAAGTGGTGGGGGACAATTCTCAGTCCAGGAAAATGCATTGACCATTGCTGGCTATTTGCTTACCTAGTAAGAATTGGATTCAT TTTTGACCAGATTATTCTTCTATGCTTTTTTGCAATAAATCAAATCCCACATATCTACAAGTGGTATGAAGTCCTGCACCCCCCAGGAGG CCTGTCCAGGCATGTCTTCAGAGGCAGGGTGGGTTACACTCATTTACCTCCCCTCTCCCCACCAAATTATGACACAAACGAGTATGTTTC CTCTCTAGAACCCTGTAATGCCTCCTCCCCCATCCCCAGAGCTCCTTACTGTAGGTCTTACCCTGGACAAGGATTTTTTCAAGTTGGAGG CACAGAACATGAGCAATCTGACATTCCCACAGCCCCTCAAACATGCAAGGCTACTAAGGCAGGAGGAGTATAAATGATGGATATTGACCA AGACCTGCTTGGACGGAGACCGCCATATTATCTGTTCTCTTCGTTCACAAAACAGCCTTCACTTGTCTCAGAATTTGATGGACACATACT >58666_58666_6_NF1-ACACA_NF1_chr17_29422387_ENST00000358273_ACACA_chr17_35518964_ENST00000353139_length(amino acids)=753AA_BP=62 MGACTPQTLSLPLPSPQPPLPALFPAQGAGPPFPPPPPGRGEDMAAHRPVEWVQAVVSRFDEQIGMVAWKMTFKSPEYPEGRDIIVIGND ITYRIGSFGPQEDLLFLRASELARAEGIPRIYVSANSGARIGLAEEIRHMFHVAWVDPEDPYKGYRYLYLTPQDYKRVSALNSVHCEHVE DEGESRYKITDIIGKEEGIGPENLRGSGMIAGESSLAYNEIITISLVTCRAIGIGAYLVRLGQRTIQVENSHLILTGAGALNKVLGREVY TSNNQLGGIQIMHNNGVTHCTVCDDFEGVFTVLHWLSYMPKSVHSSVPLLNSKDPIDRIIEFVPTKTPYDPRWMLAGRPHPTQKGQWLSG FFDYGSFSEIMQPWAQTVVVGRARLGGIPVGVVAVETRTVELSIPADPANLDSEAKIIQQAGQVWFPDSAFKTYQAIKDFNREGLPLMVF ANWRGFSGGMKDMYDQVLKFGAYIVDGLRECCQPVLVYIPPQAELRGGSWVVIDSSINPRHMEMYADRESRGSVLEPEGTVEIKFRRKDL VKTMRRVDPVYIHLAERLGTPELSTAERKELENKLKEREEFLIPIYHQVAVQFADLHDTPGRMQEKGVISDILDWKTSRTFFYWRLRRLL LEDLVKKKIHNANPELTDGQIQAMLRRWFVEVEGTVKAYVWDNNKDLAEWLEKQLTEEDGVHSVIEENIKCISRDYVLKQIRSLVQANPE -------------------------------------------------------------- >58666_58666_7_NF1-ACACA_NF1_chr17_29422387_ENST00000358273_ACACA_chr17_35518964_ENST00000360679_length(transcript)=4838nt_BP=443nt AATCTCTAGCTCGCTCGCGCTCCCTCTCCCCGGGCCGTGGAAAGGATCCCACTTCCGGTGGGGTGTCATGGCGGCGTCTCGGACTGTGAT GGCTGTGGGGAGACGGCGCTAGTGGGGAGAGCGACCAAGAGGCCCCCTCCCCTCCCCGGGTCCCCTTCCCCTATCCCCCTCCCCCCAGCC TCCTTGCCAACGCCCCCTTTCCCTCTCCCCCTCCCGCTCGGCGCTGACCCCCCATCCCCACCCCCGTGGGAACACTGGGAGCCTGCACTC CACAGACCCTCTCCTTGCCTCTTCCCTCACCTCAGCCTCCGCTCCCCGCCCTCTTCCCGGCCCAGGGCGCCGGCCCACCCTTCCCTCCGC CGCCCCCCGGCCGCGGGGAGGACATGGCCGCGCACAGGCCGGTGGAATGGGTCCAGGCCGTGGTCAGCCGCTTCGACGAGCAGATTGGCA TGGTAGCTTGGAAAATGACCTTTAAAAGTCCTGAATATCCAGAAGGCCGAGATATCATTGTTATTGGCAATGACATCACATACCGAATTG GGTCCTTTGGGCCTCAAGAGGATTTGTTATTTCTCAGAGCTTCCGAACTTGCTAGGGCAGAAGGTATTCCACGCATCTATGTATCAGCCA ACAGTGGAGCAAGAATCGGACTGGCAGAAGAAATTCGCCATATGTTTCATGTGGCCTGGGTAGATCCTGAGGATCCTTACAAGGGATACA GGTATTTATATCTGACTCCTCAAGATTATAAGAGAGTCAGTGCTCTCAACTCTGTCCATTGTGAACACGTGGAAGATGAAGGAGAATCCA GGTACAAGATAACAGATATTATTGGGAAAGAAGAGGGAATTGGACCCGAGAACCTTCGAGGTTCTGGAATGATTGCTGGAGAATCCTCAT TGGCCTATAATGAGATCATTACCATCAGCCTGGTGACGTGCCGGGCCATTGGGATTGGGGCTTACCTTGTCCGGCTGGGACAGAGAACCA TCCAGGTTGAGAATTCTCACTTAATTCTAACAGGAGCTGGAGCCCTCAACAAAGTCCTCGGGCGGGAAGTGTACACCTCCAATAACCAGC TGGGGGGCATCCAGATTATGCACAACAATGGGGTGACCCACTGCACTGTGTGTGATGACTTTGAAGGGGTTTTCACTGTCCTGCACTGGC TGTCTTACATGCCCAAGAGCGTGCACAGTTCAGTTCCTCTTCTGAACTCAAAGGATCCTATAGACAGAATCATCGAGTTTGTTCCCACAA AGACCCCATACGATCCTCGATGGATGCTAGCAGGCCGTCCTCACCCAACCCAAAAAGGTCAGTGGTTGAGTGGCTTTTTTGACTATGGAT CTTTCTCAGAGATTATGCAGCCCTGGGCACAGACTGTGGTGGTTGGTAGAGCCAGGCTAGGAGGAATACCTGTGGGAGTTGTTGCTGTAG AAACCCGAACAGTAGAACTAAGTATCCCAGCTGATCCAGCAAACCTGGATTCTGAAGCCAAGATAATCCAGCAGGCTGGCCAGGTTTGGT TCCCAGATTCTGCGTTTAAGACATATCAGGCCATCAAGGACTTCAACCGGGAAGGGCTGCCTCTGATGGTCTTTGCCAACTGGAGAGGCT TCTCTGGTGGAATGAAAGATATGTACGACCAAGTGCTGAAGTTTGGTGCTTACATTGTGGATGGCTTGAGGGAGTGCTGCCAGCCTGTGC TGGTTTACATTCCTCCCCAGGCTGAGCTGCGGGGTGGCTCCTGGGTGGTGATTGACTCCTCCATCAACCCCCGGCACATGGAGATGTATG CTGACCGAGAAAGCAGGGGATCTGTTCTGGAGCCAGAAGGGACAGTAGAAATCAAATTCCGCAGAAAGGATCTGGTGAAAACCATGCGTC GGGTGGACCCAGTCTACATCCACTTGGCTGAGCGATTGGGGACCCCAGAGCTAAGCACAGCTGAGCGGAAGGAGTTGGAGAACAAGTTGA AGGAGCGGGAGGAATTCCTAATTCCCATTTACCATCAGGTAGCCGTGCAGTTTGCTGACTTGCACGACACACCAGGCCGGATGCAGGAGA AGGGTGTTATTAGCGATATCCTGGATTGGAAAACATCCCGTACCTTCTTCTACTGGCGGCTGAGGCGTCTTCTGCTGGAGGACCTGGTCA AGAAGAAAATCCACAATGCCAACCCTGAGCTGACTGATGGCCAGATTCAAGCCATGTTAAGGCGCTGGTTTGTGGAAGTGGAAGGAACAG TGAAGGCTTATGTTTGGGACAATAATAAGGATCTGGCGGAGTGGCTAGAGAAACAGCTGACAGAGGAGGATGGTGTTCACTCGGTAATAG AGGAAAACATCAAATGCATCAGCAGAGACTACGTCCTCAAGCAAATCCGCAGCTTGGTCCAGGCCAATCCAGAGGTTGCCATGGATTCCA TCATCCATATGACGCAGCACATATCACCCACTCAGCGAGCAGAAGTCATACGGATCCTCTCCACAATGGATTCCCCTTCCACGTAGGAAG AGCTTCCTGCCTGTCCCTGCCCTGTCTCTGGAGAAAAGGGCTAGAGCTGCCTTTTACAACTGTAACCACTGTAATGAGAAGGCACAGGAG ACCCAGCACTGGAGTCAAATGGCATTTTACTTCCTCTCGTTTCAGGTTATGCATGACATCCTGGGATGTAAGATCACAGAATCCCCCTCC AGCCCACCAGTCACACCTACCCCATTCAGTATTTATTACCCTGGCCAGGCCTAGTCCTCCACTCCCTGCACAGGACTGAGAAGGCAATGA AAGGTACAAACATGTACCATGAGGTCTTACTAACCAAAGTAGGGCTGCCCCTCCTGTCCTGACAGCCCCTTGGCCTCCCAGCATGGGGAA GCGTGAGGAGTTGCCCAGCAGTGAGCAGCCCCCCTCACTCCTGGCCCCATGAGCCGCAGCCACAGGCAGCAGAGGAGGGCTAAGGAGAGG AGGAAGCCTCAAGTCCATTGTTTATTACCCCGACTCTTAGCCCAGCACACAGTAGGCACTGGAGAGGAATGATTCCCAGTTTAACCACAC TACGGTACCTTTTATGAAGAAAAATTAGAGCATAAAATCTACTACAAGCTCCATAGGAACTCAAAGATGAGGGCAAAACTGTGAGCCAAG AAGCAGAGAAAGAAAATAGAACCAGTTATTCTTGATTTAGGGGACCTCAACCTTGGGTTCAGTCTCTGAGGACAAAGGGAAAGGTAGTTG TTGGCCTGCCTCTCGCCTGCACGTCACTGCTGGACTAGCTGTCGCATGTGGCTGGGAGCTGCAAGGCCAGTGCTTGAGGGGCCCCAGCAG TTCCACAGGTGGTGAAGCCTGAGTTGGCAGAGGAGGAGCCAGAAGAGAACTGCCCTTTCTGCACTGGTGGAAACTAGTTATTTATGCCAT GTGGAGAGCCAGTGAGATAGATAGATAGTCTGTTTGTTTTGAGGACTTGGAAAGTTGTTCCTATGAAGCCTGGAGCTTGGATGGTTTTGA GAGGTTAATGGTGCCTCCACACTCACTCTTCCCTAGTTCCAGGATTACTGTCCTAGCAGCTAACGGTTCTACTCTCTTCCCCAGAGTGTA GACAGGCAGCAGGTCTCCCCACAGCTCTGAAAGGACCCTGGTGACAGCTACACCCTCAGCACCAGGAGCTGGCCTTCCTGATGAGGGAGG CTTCCAGGAAACACAGAATCCACATGACCTTAAGATTATTTACAACTCAGTCATGGTGCTGCTGTCCTCCAGGCTTACTGGCCCCTCCTG ACTGGCATCAGGGGCTTCCTCAGGTGGTGGAGAGAGTTTACTTTCAACAACTAGTTTATTCAAGAAAAGAACTTACTGATTCCTCTGTTC CTAAAGCAAGAGTGGCAGGTGATCAGGGCTGGTGTAGCATCCGGTTCCTTTAGTGCAGCTAACTGCATTTGTCACTGATGACCAAGGAGG AAATCACTAAGACATTTGAGAAGCAGTGGTATGAACGTTCTTGGACAAGCCACAGTTCTGAGCCTTAACCCTGTAGTTTGCACACAAGAA CGAGCTCCACCTCCCCTTCTTCAGGAGGAATCTGTGCGGATAGATTGGCTGGACTTTTCAATGGTTCTGGGTTGCAGGTGGGCACTGTAT GGCTGGGTATGGAGCGGACAGCCCCCAGGAGTCAGAGCCTCAGCCCGGCTGCCCTGGTGGAAGGTACAGGTGTTCAGCACCTTCAGAAAA GGGCATAAAGTGGTGGGGGACAATTCTCAGTCCAGGAAAATGCATTGACCATTGCTGGCTATTTGCTTACCTAGTAAGAATTGGATTCAT TTTTGACCAGATTATTCTTCTATGCTTTTTTGCAATAAATCAAATCCCACATATCTACAAGTGGTATGAAGTCCTGCACCCCCCAGGAGG CCTGTCCAGGCATGTCTTCAGAGGCAGGGTGGGTTACACTCATTTACCTCCCCTCTCCCCACCAAATTATGACACAAACGAGTATGTTTC CTCTCTAGAACCCTGTAATGCCTCCTCCCCCATCCCCAGAGCTCCTTACTGTAGGTCTTACCCTGGACAAGGATTTTTTCAAGTTGGAGG CACAGAACATGAGCAATCTGACATTCCCACAGCCCCTCAAACATGCAAGGCTACTAAGGCAGGAGGAGTATAAATGATGGATATTGACCA AGACCTGCTTGGACGGAGACCGCCATATTATCTGTTCTCTTCGTTCACAAAACAGCCTTCACTTGTCTCAGAATTTGATGGACACATACT >58666_58666_7_NF1-ACACA_NF1_chr17_29422387_ENST00000358273_ACACA_chr17_35518964_ENST00000360679_length(amino acids)=753AA_BP=62 MGACTPQTLSLPLPSPQPPLPALFPAQGAGPPFPPPPPGRGEDMAAHRPVEWVQAVVSRFDEQIGMVAWKMTFKSPEYPEGRDIIVIGND ITYRIGSFGPQEDLLFLRASELARAEGIPRIYVSANSGARIGLAEEIRHMFHVAWVDPEDPYKGYRYLYLTPQDYKRVSALNSVHCEHVE DEGESRYKITDIIGKEEGIGPENLRGSGMIAGESSLAYNEIITISLVTCRAIGIGAYLVRLGQRTIQVENSHLILTGAGALNKVLGREVY TSNNQLGGIQIMHNNGVTHCTVCDDFEGVFTVLHWLSYMPKSVHSSVPLLNSKDPIDRIIEFVPTKTPYDPRWMLAGRPHPTQKGQWLSG FFDYGSFSEIMQPWAQTVVVGRARLGGIPVGVVAVETRTVELSIPADPANLDSEAKIIQQAGQVWFPDSAFKTYQAIKDFNREGLPLMVF ANWRGFSGGMKDMYDQVLKFGAYIVDGLRECCQPVLVYIPPQAELRGGSWVVIDSSINPRHMEMYADRESRGSVLEPEGTVEIKFRRKDL VKTMRRVDPVYIHLAERLGTPELSTAERKELENKLKEREEFLIPIYHQVAVQFADLHDTPGRMQEKGVISDILDWKTSRTFFYWRLRRLL LEDLVKKKIHNANPELTDGQIQAMLRRWFVEVEGTVKAYVWDNNKDLAEWLEKQLTEEDGVHSVIEENIKCISRDYVLKQIRSLVQANPE -------------------------------------------------------------- >58666_58666_8_NF1-ACACA_NF1_chr17_29422387_ENST00000358273_ACACA_chr17_35518964_ENST00000394406_length(transcript)=4838nt_BP=443nt AATCTCTAGCTCGCTCGCGCTCCCTCTCCCCGGGCCGTGGAAAGGATCCCACTTCCGGTGGGGTGTCATGGCGGCGTCTCGGACTGTGAT GGCTGTGGGGAGACGGCGCTAGTGGGGAGAGCGACCAAGAGGCCCCCTCCCCTCCCCGGGTCCCCTTCCCCTATCCCCCTCCCCCCAGCC TCCTTGCCAACGCCCCCTTTCCCTCTCCCCCTCCCGCTCGGCGCTGACCCCCCATCCCCACCCCCGTGGGAACACTGGGAGCCTGCACTC CACAGACCCTCTCCTTGCCTCTTCCCTCACCTCAGCCTCCGCTCCCCGCCCTCTTCCCGGCCCAGGGCGCCGGCCCACCCTTCCCTCCGC CGCCCCCCGGCCGCGGGGAGGACATGGCCGCGCACAGGCCGGTGGAATGGGTCCAGGCCGTGGTCAGCCGCTTCGACGAGCAGATTGGCA TGGTAGCTTGGAAAATGACCTTTAAAAGTCCTGAATATCCAGAAGGCCGAGATATCATTGTTATTGGCAATGACATCACATACCGAATTG GGTCCTTTGGGCCTCAAGAGGATTTGTTATTTCTCAGAGCTTCCGAACTTGCTAGGGCAGAAGGTATTCCACGCATCTATGTATCAGCCA ACAGTGGAGCAAGAATCGGACTGGCAGAAGAAATTCGCCATATGTTTCATGTGGCCTGGGTAGATCCTGAGGATCCTTACAAGGGATACA GGTATTTATATCTGACTCCTCAAGATTATAAGAGAGTCAGTGCTCTCAACTCTGTCCATTGTGAACACGTGGAAGATGAAGGAGAATCCA GGTACAAGATAACAGATATTATTGGGAAAGAAGAGGGAATTGGACCCGAGAACCTTCGAGGTTCTGGAATGATTGCTGGAGAATCCTCAT TGGCCTATAATGAGATCATTACCATCAGCCTGGTGACGTGCCGGGCCATTGGGATTGGGGCTTACCTTGTCCGGCTGGGACAGAGAACCA TCCAGGTTGAGAATTCTCACTTAATTCTAACAGGAGCTGGAGCCCTCAACAAAGTCCTCGGGCGGGAAGTGTACACCTCCAATAACCAGC TGGGGGGCATCCAGATTATGCACAACAATGGGGTGACCCACTGCACTGTGTGTGATGACTTTGAAGGGGTTTTCACTGTCCTGCACTGGC TGTCTTACATGCCCAAGAGCGTGCACAGTTCAGTTCCTCTTCTGAACTCAAAGGATCCTATAGACAGAATCATCGAGTTTGTTCCCACAA AGACCCCATACGATCCTCGATGGATGCTAGCAGGCCGTCCTCACCCAACCCAAAAAGGTCAGTGGTTGAGTGGCTTTTTTGACTATGGAT CTTTCTCAGAGATTATGCAGCCCTGGGCACAGACTGTGGTGGTTGGTAGAGCCAGGCTAGGAGGAATACCTGTGGGAGTTGTTGCTGTAG AAACCCGAACAGTAGAACTAAGTATCCCAGCTGATCCAGCAAACCTGGATTCTGAAGCCAAGATAATCCAGCAGGCTGGCCAGGTTTGGT TCCCAGATTCTGCGTTTAAGACATATCAGGCCATCAAGGACTTCAACCGGGAAGGGCTGCCTCTGATGGTCTTTGCCAACTGGAGAGGCT TCTCTGGTGGAATGAAAGATATGTACGACCAAGTGCTGAAGTTTGGTGCTTACATTGTGGATGGCTTGAGGGAGTGCTGCCAGCCTGTGC TGGTTTACATTCCTCCCCAGGCTGAGCTGCGGGGTGGCTCCTGGGTGGTGATTGACTCCTCCATCAACCCCCGGCACATGGAGATGTATG CTGACCGAGAAAGCAGGGGATCTGTTCTGGAGCCAGAAGGGACAGTAGAAATCAAATTCCGCAGAAAGGATCTGGTGAAAACCATGCGTC GGGTGGACCCAGTCTACATCCACTTGGCTGAGCGATTGGGGACCCCAGAGCTAAGCACAGCTGAGCGGAAGGAGTTGGAGAACAAGTTGA AGGAGCGGGAGGAATTCCTAATTCCCATTTACCATCAGGTAGCCGTGCAGTTTGCTGACTTGCACGACACACCAGGCCGGATGCAGGAGA AGGGTGTTATTAGCGATATCCTGGATTGGAAAACATCCCGTACCTTCTTCTACTGGCGGCTGAGGCGTCTTCTGCTGGAGGACCTGGTCA AGAAGAAAATCCACAATGCCAACCCTGAGCTGACTGATGGCCAGATTCAAGCCATGTTAAGGCGCTGGTTTGTGGAAGTGGAAGGAACAG TGAAGGCTTATGTTTGGGACAATAATAAGGATCTGGCGGAGTGGCTAGAGAAACAGCTGACAGAGGAGGATGGTGTTCACTCGGTAATAG AGGAAAACATCAAATGCATCAGCAGAGACTACGTCCTCAAGCAAATCCGCAGCTTGGTCCAGGCCAATCCAGAGGTTGCCATGGATTCCA TCATCCATATGACGCAGCACATATCACCCACTCAGCGAGCAGAAGTCATACGGATCCTCTCCACAATGGATTCCCCTTCCACGTAGGAAG AGCTTCCTGCCTGTCCCTGCCCTGTCTCTGGAGAAAAGGGCTAGAGCTGCCTTTTACAACTGTAACCACTGTAATGAGAAGGCACAGGAG ACCCAGCACTGGAGTCAAATGGCATTTTACTTCCTCTCGTTTCAGGTTATGCATGACATCCTGGGATGTAAGATCACAGAATCCCCCTCC AGCCCACCAGTCACACCTACCCCATTCAGTATTTATTACCCTGGCCAGGCCTAGTCCTCCACTCCCTGCACAGGACTGAGAAGGCAATGA AAGGTACAAACATGTACCATGAGGTCTTACTAACCAAAGTAGGGCTGCCCCTCCTGTCCTGACAGCCCCTTGGCCTCCCAGCATGGGGAA GCGTGAGGAGTTGCCCAGCAGTGAGCAGCCCCCCTCACTCCTGGCCCCATGAGCCGCAGCCACAGGCAGCAGAGGAGGGCTAAGGAGAGG AGGAAGCCTCAAGTCCATTGTTTATTACCCCGACTCTTAGCCCAGCACACAGTAGGCACTGGAGAGGAATGATTCCCAGTTTAACCACAC TACGGTACCTTTTATGAAGAAAAATTAGAGCATAAAATCTACTACAAGCTCCATAGGAACTCAAAGATGAGGGCAAAACTGTGAGCCAAG AAGCAGAGAAAGAAAATAGAACCAGTTATTCTTGATTTAGGGGACCTCAACCTTGGGTTCAGTCTCTGAGGACAAAGGGAAAGGTAGTTG TTGGCCTGCCTCTCGCCTGCACGTCACTGCTGGACTAGCTGTCGCATGTGGCTGGGAGCTGCAAGGCCAGTGCTTGAGGGGCCCCAGCAG TTCCACAGGTGGTGAAGCCTGAGTTGGCAGAGGAGGAGCCAGAAGAGAACTGCCCTTTCTGCACTGGTGGAAACTAGTTATTTATGCCAT GTGGAGAGCCAGTGAGATAGATAGATAGTCTGTTTGTTTTGAGGACTTGGAAAGTTGTTCCTATGAAGCCTGGAGCTTGGATGGTTTTGA GAGGTTAATGGTGCCTCCACACTCACTCTTCCCTAGTTCCAGGATTACTGTCCTAGCAGCTAACGGTTCTACTCTCTTCCCCAGAGTGTA GACAGGCAGCAGGTCTCCCCACAGCTCTGAAAGGACCCTGGTGACAGCTACACCCTCAGCACCAGGAGCTGGCCTTCCTGATGAGGGAGG CTTCCAGGAAACACAGAATCCACATGACCTTAAGATTATTTACAACTCAGTCATGGTGCTGCTGTCCTCCAGGCTTACTGGCCCCTCCTG ACTGGCATCAGGGGCTTCCTCAGGTGGTGGAGAGAGTTTACTTTCAACAACTAGTTTATTCAAGAAAAGAACTTACTGATTCCTCTGTTC CTAAAGCAAGAGTGGCAGGTGATCAGGGCTGGTGTAGCATCCGGTTCCTTTAGTGCAGCTAACTGCATTTGTCACTGATGACCAAGGAGG AAATCACTAAGACATTTGAGAAGCAGTGGTATGAACGTTCTTGGACAAGCCACAGTTCTGAGCCTTAACCCTGTAGTTTGCACACAAGAA CGAGCTCCACCTCCCCTTCTTCAGGAGGAATCTGTGCGGATAGATTGGCTGGACTTTTCAATGGTTCTGGGTTGCAGGTGGGCACTGTAT GGCTGGGTATGGAGCGGACAGCCCCCAGGAGTCAGAGCCTCAGCCCGGCTGCCCTGGTGGAAGGTACAGGTGTTCAGCACCTTCAGAAAA GGGCATAAAGTGGTGGGGGACAATTCTCAGTCCAGGAAAATGCATTGACCATTGCTGGCTATTTGCTTACCTAGTAAGAATTGGATTCAT TTTTGACCAGATTATTCTTCTATGCTTTTTTGCAATAAATCAAATCCCACATATCTACAAGTGGTATGAAGTCCTGCACCCCCCAGGAGG CCTGTCCAGGCATGTCTTCAGAGGCAGGGTGGGTTACACTCATTTACCTCCCCTCTCCCCACCAAATTATGACACAAACGAGTATGTTTC CTCTCTAGAACCCTGTAATGCCTCCTCCCCCATCCCCAGAGCTCCTTACTGTAGGTCTTACCCTGGACAAGGATTTTTTCAAGTTGGAGG CACAGAACATGAGCAATCTGACATTCCCACAGCCCCTCAAACATGCAAGGCTACTAAGGCAGGAGGAGTATAAATGATGGATATTGACCA AGACCTGCTTGGACGGAGACCGCCATATTATCTGTTCTCTTCGTTCACAAAACAGCCTTCACTTGTCTCAGAATTTGATGGACACATACT >58666_58666_8_NF1-ACACA_NF1_chr17_29422387_ENST00000358273_ACACA_chr17_35518964_ENST00000394406_length(amino acids)=753AA_BP=62 MGACTPQTLSLPLPSPQPPLPALFPAQGAGPPFPPPPPGRGEDMAAHRPVEWVQAVVSRFDEQIGMVAWKMTFKSPEYPEGRDIIVIGND ITYRIGSFGPQEDLLFLRASELARAEGIPRIYVSANSGARIGLAEEIRHMFHVAWVDPEDPYKGYRYLYLTPQDYKRVSALNSVHCEHVE DEGESRYKITDIIGKEEGIGPENLRGSGMIAGESSLAYNEIITISLVTCRAIGIGAYLVRLGQRTIQVENSHLILTGAGALNKVLGREVY TSNNQLGGIQIMHNNGVTHCTVCDDFEGVFTVLHWLSYMPKSVHSSVPLLNSKDPIDRIIEFVPTKTPYDPRWMLAGRPHPTQKGQWLSG FFDYGSFSEIMQPWAQTVVVGRARLGGIPVGVVAVETRTVELSIPADPANLDSEAKIIQQAGQVWFPDSAFKTYQAIKDFNREGLPLMVF ANWRGFSGGMKDMYDQVLKFGAYIVDGLRECCQPVLVYIPPQAELRGGSWVVIDSSINPRHMEMYADRESRGSVLEPEGTVEIKFRRKDL VKTMRRVDPVYIHLAERLGTPELSTAERKELENKLKEREEFLIPIYHQVAVQFADLHDTPGRMQEKGVISDILDWKTSRTFFYWRLRRLL LEDLVKKKIHNANPELTDGQIQAMLRRWFVEVEGTVKAYVWDNNKDLAEWLEKQLTEEDGVHSVIEENIKCISRDYVLKQIRSLVQANPE -------------------------------------------------------------- >58666_58666_9_NF1-ACACA_NF1_chr17_29422387_ENST00000431387_ACACA_chr17_35518964_ENST00000335166_length(transcript)=2965nt_BP=393nt ACTTCCGGTGGGGTGTCATGGCGGCGTCTCGGACTGTGATGGCTGTGGGGAGACGGCGCTAGTGGGGAGAGCGACCAAGAGGCCCCCTCC CCTCCCCGGGTCCCCTTCCCCTATCCCCCTCCCCCCAGCCTCCTTGCCAACGCCCCCTTTCCCTCTCCCCCTCCCGCTCGGCGCTGACCC CCCATCCCCACCCCCGTGGGAACACTGGGAGCCTGCACTCCACAGACCCTCTCCTTGCCTCTTCCCTCACCTCAGCCTCCGCTCCCCGCC CTCTTCCCGGCCCAGGGCGCCGGCCCACCCTTCCCTCCGCCGCCCCCCGGCCGCGGGGAGGACATGGCCGCGCACAGGCCGGTGGAATGG GTCCAGGCCGTGGTCAGCCGCTTCGACGAGCAGATTGGCATGGTAGCTTGGAAAATGACCTTTAAAAGTCCTGAATATCCAGAAGGCCGA GATATCATTGTTATTGGCAATGACATCACATACCGAATTGGGTCCTTTGGGCCTCAAGAGGATTTGTTATTTCTCAGAGCTTCCGAACTT GCTAGGGCAGAAGGTATTCCACGCATCTATGTATCAGCCAACAGTGGAGCAAGAATCGGACTGGCAGAAGAAATTCGCCATATGTTTCAT GTGGCCTGGGTAGATCCTGAGGATCCTTACAAGGGATACAGGTATTTATATCTGACTCCTCAAGATTATAAGAGAGTCAGTGCTCTCAAC TCTGTCCATTGTGAACACGTGGAAGATGAAGGAGAATCCAGGTACAAGATAACAGATATTATTGGGAAAGAAGAGGGAATTGGACCCGAG AACCTTCGAGGTTCTGGAATGATTGCTGGAGAATCCTCATTGGCCTATAATGAGATCATTACCATCAGCCTGGTGACGTGCCGGGCCATT GGGATTGGGGCTTACCTTGTCCGGCTGGGACAGAGAACCATCCAGGTTGAGAATTCTCACTTAATTCTAACAGGAGCTGGAGCCCTCAAC AAAGTCCTCGGGCGGGAAGTGTACACCTCCAATAACCAGCTGGGGGGCATCCAGATTATGCACAACAATGGGGTGACCCACTGCACTGTG TGTGATGACTTTGAAGGGGTTTTCACTGTCCTGCACTGGCTGTCTTACATGCCCAAGAGCGTGCACAGTTCAGTTCCTCTTCTGAACTCA AAGGATCCTATAGACAGAATCATCGAGTTTGTTCCCACAAAGACCCCATACGATCCTCGATGGATGCTAGCAGGCCGTCCTCACCCAACC CAAAAAGGTCAGTGGTTGAGTGGCTTTTTTGACTATGGATCTTTCTCAGAGATTATGCAGCCCTGGGCACAGACTGTGGTGGTTGGTAGA GCCAGGCTAGGAGGAATACCTGTGGGAGTTGTTGCTGTAGAAACCCGAACAGTAGAACTAAGTATCCCAGCTGATCCAGCAAACCTGGAT TCTGAAGCCAAGATAATCCAGCAGGCTGGCCAGGTTTGGTTCCCAGATTCTGCGTTTAAGACATATCAGGCCATCAAGGACTTCAACCGG GAAGGGCTGCCTCTGATGGTCTTTGCCAACTGGAGAGGCTTCTCTGGTGGAATGAAAGATATGTACGACCAAGTGCTGAAGTTTGGTGCT TACATTGTGGATGGCTTGAGGGAGTGCTGCCAGCCTGTGCTGGTTTACATTCCTCCCCAGGCTGAGCTGCGGGGTGGCTCCTGGGTGGTG ATTGACTCCTCCATCAACCCCCGGCACATGGAGATGTATGCTGACCGAGAAAGCAGGGGATCTGTTCTGGAGCCAGAAGGGACAGTAGAA ATCAAATTCCGCAGAAAGGATCTGGTGAAAACCATGCGTCGGGTGGACCCAGTCTACATCCACTTGGCTGAGCGATTGGGGACCCCAGAG CTAAGCACAGCTGAGCGGAAGGAGTTGGAGAACAAGTTGAAGGAGCGGGAGGAATTCCTAATTCCCATTTACCATCAGGTAGCCGTGCAG TTTGCTGACTTGCACGACACACCAGGCCGGATGCAGGAGAAGGGTGTTATTAGCGATATCCTGGATTGGAAAACATCCCGTACCTTCTTC TACTGGCGGCTGAGGCGTCTTCTGCTGGAGGACCTGGTCAAGAAGAAAATCCACAATGCCAACCCTGAGCTGACTGATGGCCAGATTCAA GCCATGTTAAGGCGCTGGTTTGTGGAAGTGGAAGGAACAGTGAAGGCTTATGTTTGGGACAATAATAAGGATCTGGCGGAGTGGCTAGAG AAACAGCTGACAGAGGAGGATGGTGTTCACTCGGTAATAGAGGAAAACATCAAATGCATCAGCAGAGACTACGTCCTCAAGCAAATCCGC AGCTTGGTCCAGGCCAATCCAGAGGTTGCCATGGATTCCATCATCCATATGACGCAGCACATATCACCCACTCAGCGAGCAGAAGTCATA CGGATCCTCTCCACAATGGATTCCCCTTCCACGTAGGAAGAGCTTCCTGCCTGTCCCTGCCCTGTCTCTGGAGAAAAGGGCTAGAGCTGC CTTTTACAACTGTAACCACTGTAATGAGAAGGCACAGGAGACCCAGCACTGGAGTCAAATGGCATTTTACTTCCTCTCGTTTCAGGTTAT GCATGACATCCTGGGATGTAAGATCACAGAATCCCCCTCCAGCCCACCAGTCACACCTACCCCATTCAGTATTTATTACCCTGGCCAGGC CTAGTCCTCCACTCCCTGCACAGGACTGAGAAGGCAATGAAAGGTACAAACATGTACCATGAGGTCTTACTAACCAAAGTAGGGCTGCCC CTCCTGTCCTGACAGCCCCTTGGCCTCCCAGCATGGGGAAGCGTGAGGAGTTGCCCAGCAGTGAGCAGCCCCCCTCACTCCTGGCCCCAT >58666_58666_9_NF1-ACACA_NF1_chr17_29422387_ENST00000431387_ACACA_chr17_35518964_ENST00000335166_length(amino acids)=753AA_BP=62 MGACTPQTLSLPLPSPQPPLPALFPAQGAGPPFPPPPPGRGEDMAAHRPVEWVQAVVSRFDEQIGMVAWKMTFKSPEYPEGRDIIVIGND ITYRIGSFGPQEDLLFLRASELARAEGIPRIYVSANSGARIGLAEEIRHMFHVAWVDPEDPYKGYRYLYLTPQDYKRVSALNSVHCEHVE DEGESRYKITDIIGKEEGIGPENLRGSGMIAGESSLAYNEIITISLVTCRAIGIGAYLVRLGQRTIQVENSHLILTGAGALNKVLGREVY TSNNQLGGIQIMHNNGVTHCTVCDDFEGVFTVLHWLSYMPKSVHSSVPLLNSKDPIDRIIEFVPTKTPYDPRWMLAGRPHPTQKGQWLSG FFDYGSFSEIMQPWAQTVVVGRARLGGIPVGVVAVETRTVELSIPADPANLDSEAKIIQQAGQVWFPDSAFKTYQAIKDFNREGLPLMVF ANWRGFSGGMKDMYDQVLKFGAYIVDGLRECCQPVLVYIPPQAELRGGSWVVIDSSINPRHMEMYADRESRGSVLEPEGTVEIKFRRKDL VKTMRRVDPVYIHLAERLGTPELSTAERKELENKLKEREEFLIPIYHQVAVQFADLHDTPGRMQEKGVISDILDWKTSRTFFYWRLRRLL LEDLVKKKIHNANPELTDGQIQAMLRRWFVEVEGTVKAYVWDNNKDLAEWLEKQLTEEDGVHSVIEENIKCISRDYVLKQIRSLVQANPE -------------------------------------------------------------- >58666_58666_10_NF1-ACACA_NF1_chr17_29422387_ENST00000431387_ACACA_chr17_35518964_ENST00000353139_length(transcript)=4794nt_BP=393nt ACTTCCGGTGGGGTGTCATGGCGGCGTCTCGGACTGTGATGGCTGTGGGGAGACGGCGCTAGTGGGGAGAGCGACCAAGAGGCCCCCTCC CCTCCCCGGGTCCCCTTCCCCTATCCCCCTCCCCCCAGCCTCCTTGCCAACGCCCCCTTTCCCTCTCCCCCTCCCGCTCGGCGCTGACCC CCCATCCCCACCCCCGTGGGAACACTGGGAGCCTGCACTCCACAGACCCTCTCCTTGCCTCTTCCCTCACCTCAGCCTCCGCTCCCCGCC CTCTTCCCGGCCCAGGGCGCCGGCCCACCCTTCCCTCCGCCGCCCCCCGGCCGCGGGGAGGACATGGCCGCGCACAGGCCGGTGGAATGG GTCCAGGCCGTGGTCAGCCGCTTCGACGAGCAGATTGGCATGGTAGCTTGGAAAATGACCTTTAAAAGTCCTGAATATCCAGAAGGCCGA GATATCATTGTTATTGGCAATGACATCACATACCGAATTGGGTCCTTTGGGCCTCAAGAGGATTTGTTATTTCTCAGAGCTTCCGAACTT GCTAGGGCAGAAGGTATTCCACGCATCTATGTATCAGCCAACAGTGGAGCAAGAATCGGACTGGCAGAAGAAATTCGCCATATGTTTCAT GTGGCCTGGGTAGATCCTGAGGATCCTTACAAGGGATACAGGTATTTATATCTGACTCCTCAAGATTATAAGAGAGTCAGTGCTCTCAAC TCTGTCCATTGTGAACACGTGGAAGATGAAGGAGAATCCAGGTACAAGATAACAGATATTATTGGGAAAGAAGAGGGAATTGGACCCGAG AACCTTCGAGGTTCTGGAATGATTGCTGGAGAATCCTCATTGGCCTATAATGAGATCATTACCATCAGCCTGGTGACGTGCCGGGCCATT GGGATTGGGGCTTACCTTGTCCGGCTGGGACAGAGAACCATCCAGGTTGAGAATTCTCACTTAATTCTAACAGGAGCTGGAGCCCTCAAC AAAGTCCTCGGGCGGGAAGTGTACACCTCCAATAACCAGCTGGGGGGCATCCAGATTATGCACAACAATGGGGTGACCCACTGCACTGTG TGTGATGACTTTGAAGGGGTTTTCACTGTCCTGCACTGGCTGTCTTACATGCCCAAGAGCGTGCACAGTTCAGTTCCTCTTCTGAACTCA AAGGATCCTATAGACAGAATCATCGAGTTTGTTCCCACAAAGACCCCATACGATCCTCGATGGATGCTAGCAGGCCGTCCTCACCCAACC CAAAAAGGTCAGTGGTTGAGTGGCTTTTTTGACTATGGATCTTTCTCAGAGATTATGCAGCCCTGGGCACAGACTGTGGTGGTTGGTAGA GCCAGGCTAGGAGGAATACCTGTGGGAGTTGTTGCTGTAGAAACCCGAACAGTAGAACTAAGTATCCCAGCTGATCCAGCAAACCTGGAT TCTGAAGCCAAGATAATCCAGCAGGCTGGCCAGGTTTGGTTCCCAGATTCTGCGTTTAAGACATATCAGGCCATCAAGGACTTCAACCGG GAAGGGCTGCCTCTGATGGTCTTTGCCAACTGGAGAGGCTTCTCTGGTGGAATGAAAGATATGTACGACCAAGTGCTGAAGTTTGGTGCT TACATTGTGGATGGCTTGAGGGAGTGCTGCCAGCCTGTGCTGGTTTACATTCCTCCCCAGGCTGAGCTGCGGGGTGGCTCCTGGGTGGTG ATTGACTCCTCCATCAACCCCCGGCACATGGAGATGTATGCTGACCGAGAAAGCAGGGGATCTGTTCTGGAGCCAGAAGGGACAGTAGAA ATCAAATTCCGCAGAAAGGATCTGGTGAAAACCATGCGTCGGGTGGACCCAGTCTACATCCACTTGGCTGAGCGATTGGGGACCCCAGAG CTAAGCACAGCTGAGCGGAAGGAGTTGGAGAACAAGTTGAAGGAGCGGGAGGAATTCCTAATTCCCATTTACCATCAGGTAGCCGTGCAG TTTGCTGACTTGCACGACACACCAGGCCGGATGCAGGAGAAGGGTGTTATTAGCGATATCCTGGATTGGAAAACATCCCGTACCTTCTTC TACTGGCGGCTGAGGCGTCTTCTGCTGGAGGACCTGGTCAAGAAGAAAATCCACAATGCCAACCCTGAGCTGACTGATGGCCAGATTCAA GCCATGTTAAGGCGCTGGTTTGTGGAAGTGGAAGGAACAGTGAAGGCTTATGTTTGGGACAATAATAAGGATCTGGCGGAGTGGCTAGAG AAACAGCTGACAGAGGAGGATGGTGTTCACTCGGTAATAGAGGAAAACATCAAATGCATCAGCAGAGACTACGTCCTCAAGCAAATCCGC AGCTTGGTCCAGGCCAATCCAGAGGTTGCCATGGATTCCATCATCCATATGACGCAGCACATATCACCCACTCAGCGAGCAGAAGTCATA CGGATCCTCTCCACAATGGATTCCCCTTCCACGTAGGAAGAGCTTCCTGCCTGTCCCTGCCCTGTCTCTGGAGAAAAGGGCTAGAGCTGC CTTTTACAACTGTAACCACTGTAATGAGAAGGCACAGGAGACCCAGCACTGGAGTCAAATGGCATTTTACTTCCTCTCGTTTCAGGTTAT GCATGACATCCTGGGATGTAAGATCACAGAATCCCCCTCCAGCCCACCAGTCACACCTACCCCATTCAGTATTTATTACCCTGGCCAGGC CTAGTCCTCCACTCCCTGCACAGGACTGAGAAGGCAATGAAAGGTACAAACATGTACCATGAGGTCTTACTAACCAAAGTAGGGCTGCCC CTCCTGTCCTGACAGCCCCTTGGCCTCCCAGCATGGGGAAGCGTGAGGAGTTGCCCAGCAGTGAGCAGCCCCCCTCACTCCTGGCCCCAT GAGCCGCAGCCACAGGCAGCAGAGGAGGGCTAAGGAGAGGAGGAAGCCTCAAGTCCATTGTTTATTACCCCGACTCTTAGCCCAGCACAC AGTAGGCACTGGAGAGGAATGATTCCCAGTTTAACCACACTACGGTACCTTTTATGAAGAAAAATTAGAGCATAAAATCTACTACAAGCT CCATAGGAACTCAAAGATGAGGGCAAAACTGTGAGCCAAGAAGCAGAGAAAGAAAATAGAACCAGTTATTCTTGATTTAGGGGACCTCAA CCTTGGGTTCAGTCTCTGAGGACAAAGGGAAAGGTAGTTGTTGGCCTGCCTCTCGCCTGCACGTCACTGCTGGACTAGCTGTCGCATGTG GCTGGGAGCTGCAAGGCCAGTGCTTGAGGGGCCCCAGCAGTTCCACAGGTGGTGAAGCCTGAGTTGGCAGAGGAGGAGCCAGAAGAGAAC TGCCCTTTCTGCACTGGTGGAAACTAGTTATTTATGCCATGTGGAGAGCCAGTGAGATAGATAGATAGTCTGTTTGTTTTGAGGACTTGG AAAGTTGTTCCTATGAAGCCTGGAGCTTGGATGGTTTTGAGAGGTTAATGGTGCCTCCACACTCACTCTTCCCTAGTTCCAGGATTACTG TCCTAGCAGCTAACGGTTCTACTCTCTTCCCCAGAGTGTAGACAGGCAGCAGGTCTCCCCACAGCTCTGAAAGGACCCTGGTGACAGCTA CACCCTCAGCACCAGGAGCTGGCCTTCCTGATGAGGGAGGCTTCCAGGAAACACAGAATCCACATGACCTTAAGATTATTTACAACTCAG TCATGGTGCTGCTGTCCTCCAGGCTTACTGGCCCCTCCTGACTGGCATCAGGGGCTTCCTCAGGTGGTGGAGAGAGTTTACTTTCAACAA CTAGTTTATTCAAGAAAAGAACTTACTGATTCCTCTGTTCCTAAAGCAAGAGTGGCAGGTGATCAGGGCTGGTGTAGCATCCGGTTCCTT TAGTGCAGCTAACTGCATTTGTCACTGATGACCAAGGAGGAAATCACTAAGACATTTGAGAAGCAGTGGTATGAACGTTCTTGGACAAGC CACAGTTCTGAGCCTTAACCCTGTAGTTTGCACACAAGAACGAGCTCCACCTCCCCTTCTTCAGGAGGAATCTGTGCGGATAGATTGGCT GGACTTTTCAATGGTTCTGGGTTGCAGGTGGGCACTGTATGGCTGGGTATGGAGCGGACAGCCCCCAGGAGTCAGAGCCTCAGCCCGGCT GCCCTGGTGGAAGGTACAGGTGTTCAGCACCTTCAGAAAAGGGCATAAAGTGGTGGGGGACAATTCTCAGTCCAGGAAAATGCATTGACC ATTGCTGGCTATTTGCTTACCTAGTAAGAATTGGATTCATTTTTGACCAGATTATTCTTCTATGCTTTTTTGCAATAAATCAAATCCCAC ATATCTACAAGTGGTATGAAGTCCTGCACCCCCCAGGAGGCCTGTCCAGGCATGTCTTCAGAGGCAGGGTGGGTTACACTCATTTACCTC CCCTCTCCCCACCAAATTATGACACAAACGAGTATGTTTCCTCTCTAGAACCCTGTAATGCCTCCTCCCCCATCCCCAGAGCTCCTTACT GTAGGTCTTACCCTGGACAAGGATTTTTTCAAGTTGGAGGCACAGAACATGAGCAATCTGACATTCCCACAGCCCCTCAAACATGCAAGG CTACTAAGGCAGGAGGAGTATAAATGATGGATATTGACCAAGACCTGCTTGGACGGAGACCGCCATATTATCTGTTCTCTTCGTTCACAA AACAGCCTTCACTTGTCTCAGAATTTGATGGACACATACTGTGATGAGCAGGAGCTTCAGATGCACTCTTTACACATTTTGTTGAAATAA >58666_58666_10_NF1-ACACA_NF1_chr17_29422387_ENST00000431387_ACACA_chr17_35518964_ENST00000353139_length(amino acids)=753AA_BP=62 MGACTPQTLSLPLPSPQPPLPALFPAQGAGPPFPPPPPGRGEDMAAHRPVEWVQAVVSRFDEQIGMVAWKMTFKSPEYPEGRDIIVIGND ITYRIGSFGPQEDLLFLRASELARAEGIPRIYVSANSGARIGLAEEIRHMFHVAWVDPEDPYKGYRYLYLTPQDYKRVSALNSVHCEHVE DEGESRYKITDIIGKEEGIGPENLRGSGMIAGESSLAYNEIITISLVTCRAIGIGAYLVRLGQRTIQVENSHLILTGAGALNKVLGREVY TSNNQLGGIQIMHNNGVTHCTVCDDFEGVFTVLHWLSYMPKSVHSSVPLLNSKDPIDRIIEFVPTKTPYDPRWMLAGRPHPTQKGQWLSG FFDYGSFSEIMQPWAQTVVVGRARLGGIPVGVVAVETRTVELSIPADPANLDSEAKIIQQAGQVWFPDSAFKTYQAIKDFNREGLPLMVF ANWRGFSGGMKDMYDQVLKFGAYIVDGLRECCQPVLVYIPPQAELRGGSWVVIDSSINPRHMEMYADRESRGSVLEPEGTVEIKFRRKDL VKTMRRVDPVYIHLAERLGTPELSTAERKELENKLKEREEFLIPIYHQVAVQFADLHDTPGRMQEKGVISDILDWKTSRTFFYWRLRRLL LEDLVKKKIHNANPELTDGQIQAMLRRWFVEVEGTVKAYVWDNNKDLAEWLEKQLTEEDGVHSVIEENIKCISRDYVLKQIRSLVQANPE -------------------------------------------------------------- >58666_58666_11_NF1-ACACA_NF1_chr17_29422387_ENST00000431387_ACACA_chr17_35518964_ENST00000360679_length(transcript)=4788nt_BP=393nt ACTTCCGGTGGGGTGTCATGGCGGCGTCTCGGACTGTGATGGCTGTGGGGAGACGGCGCTAGTGGGGAGAGCGACCAAGAGGCCCCCTCC CCTCCCCGGGTCCCCTTCCCCTATCCCCCTCCCCCCAGCCTCCTTGCCAACGCCCCCTTTCCCTCTCCCCCTCCCGCTCGGCGCTGACCC CCCATCCCCACCCCCGTGGGAACACTGGGAGCCTGCACTCCACAGACCCTCTCCTTGCCTCTTCCCTCACCTCAGCCTCCGCTCCCCGCC CTCTTCCCGGCCCAGGGCGCCGGCCCACCCTTCCCTCCGCCGCCCCCCGGCCGCGGGGAGGACATGGCCGCGCACAGGCCGGTGGAATGG GTCCAGGCCGTGGTCAGCCGCTTCGACGAGCAGATTGGCATGGTAGCTTGGAAAATGACCTTTAAAAGTCCTGAATATCCAGAAGGCCGA GATATCATTGTTATTGGCAATGACATCACATACCGAATTGGGTCCTTTGGGCCTCAAGAGGATTTGTTATTTCTCAGAGCTTCCGAACTT GCTAGGGCAGAAGGTATTCCACGCATCTATGTATCAGCCAACAGTGGAGCAAGAATCGGACTGGCAGAAGAAATTCGCCATATGTTTCAT GTGGCCTGGGTAGATCCTGAGGATCCTTACAAGGGATACAGGTATTTATATCTGACTCCTCAAGATTATAAGAGAGTCAGTGCTCTCAAC TCTGTCCATTGTGAACACGTGGAAGATGAAGGAGAATCCAGGTACAAGATAACAGATATTATTGGGAAAGAAGAGGGAATTGGACCCGAG AACCTTCGAGGTTCTGGAATGATTGCTGGAGAATCCTCATTGGCCTATAATGAGATCATTACCATCAGCCTGGTGACGTGCCGGGCCATT GGGATTGGGGCTTACCTTGTCCGGCTGGGACAGAGAACCATCCAGGTTGAGAATTCTCACTTAATTCTAACAGGAGCTGGAGCCCTCAAC AAAGTCCTCGGGCGGGAAGTGTACACCTCCAATAACCAGCTGGGGGGCATCCAGATTATGCACAACAATGGGGTGACCCACTGCACTGTG TGTGATGACTTTGAAGGGGTTTTCACTGTCCTGCACTGGCTGTCTTACATGCCCAAGAGCGTGCACAGTTCAGTTCCTCTTCTGAACTCA AAGGATCCTATAGACAGAATCATCGAGTTTGTTCCCACAAAGACCCCATACGATCCTCGATGGATGCTAGCAGGCCGTCCTCACCCAACC CAAAAAGGTCAGTGGTTGAGTGGCTTTTTTGACTATGGATCTTTCTCAGAGATTATGCAGCCCTGGGCACAGACTGTGGTGGTTGGTAGA GCCAGGCTAGGAGGAATACCTGTGGGAGTTGTTGCTGTAGAAACCCGAACAGTAGAACTAAGTATCCCAGCTGATCCAGCAAACCTGGAT TCTGAAGCCAAGATAATCCAGCAGGCTGGCCAGGTTTGGTTCCCAGATTCTGCGTTTAAGACATATCAGGCCATCAAGGACTTCAACCGG GAAGGGCTGCCTCTGATGGTCTTTGCCAACTGGAGAGGCTTCTCTGGTGGAATGAAAGATATGTACGACCAAGTGCTGAAGTTTGGTGCT TACATTGTGGATGGCTTGAGGGAGTGCTGCCAGCCTGTGCTGGTTTACATTCCTCCCCAGGCTGAGCTGCGGGGTGGCTCCTGGGTGGTG ATTGACTCCTCCATCAACCCCCGGCACATGGAGATGTATGCTGACCGAGAAAGCAGGGGATCTGTTCTGGAGCCAGAAGGGACAGTAGAA ATCAAATTCCGCAGAAAGGATCTGGTGAAAACCATGCGTCGGGTGGACCCAGTCTACATCCACTTGGCTGAGCGATTGGGGACCCCAGAG CTAAGCACAGCTGAGCGGAAGGAGTTGGAGAACAAGTTGAAGGAGCGGGAGGAATTCCTAATTCCCATTTACCATCAGGTAGCCGTGCAG TTTGCTGACTTGCACGACACACCAGGCCGGATGCAGGAGAAGGGTGTTATTAGCGATATCCTGGATTGGAAAACATCCCGTACCTTCTTC TACTGGCGGCTGAGGCGTCTTCTGCTGGAGGACCTGGTCAAGAAGAAAATCCACAATGCCAACCCTGAGCTGACTGATGGCCAGATTCAA GCCATGTTAAGGCGCTGGTTTGTGGAAGTGGAAGGAACAGTGAAGGCTTATGTTTGGGACAATAATAAGGATCTGGCGGAGTGGCTAGAG AAACAGCTGACAGAGGAGGATGGTGTTCACTCGGTAATAGAGGAAAACATCAAATGCATCAGCAGAGACTACGTCCTCAAGCAAATCCGC AGCTTGGTCCAGGCCAATCCAGAGGTTGCCATGGATTCCATCATCCATATGACGCAGCACATATCACCCACTCAGCGAGCAGAAGTCATA CGGATCCTCTCCACAATGGATTCCCCTTCCACGTAGGAAGAGCTTCCTGCCTGTCCCTGCCCTGTCTCTGGAGAAAAGGGCTAGAGCTGC CTTTTACAACTGTAACCACTGTAATGAGAAGGCACAGGAGACCCAGCACTGGAGTCAAATGGCATTTTACTTCCTCTCGTTTCAGGTTAT GCATGACATCCTGGGATGTAAGATCACAGAATCCCCCTCCAGCCCACCAGTCACACCTACCCCATTCAGTATTTATTACCCTGGCCAGGC CTAGTCCTCCACTCCCTGCACAGGACTGAGAAGGCAATGAAAGGTACAAACATGTACCATGAGGTCTTACTAACCAAAGTAGGGCTGCCC CTCCTGTCCTGACAGCCCCTTGGCCTCCCAGCATGGGGAAGCGTGAGGAGTTGCCCAGCAGTGAGCAGCCCCCCTCACTCCTGGCCCCAT GAGCCGCAGCCACAGGCAGCAGAGGAGGGCTAAGGAGAGGAGGAAGCCTCAAGTCCATTGTTTATTACCCCGACTCTTAGCCCAGCACAC AGTAGGCACTGGAGAGGAATGATTCCCAGTTTAACCACACTACGGTACCTTTTATGAAGAAAAATTAGAGCATAAAATCTACTACAAGCT CCATAGGAACTCAAAGATGAGGGCAAAACTGTGAGCCAAGAAGCAGAGAAAGAAAATAGAACCAGTTATTCTTGATTTAGGGGACCTCAA CCTTGGGTTCAGTCTCTGAGGACAAAGGGAAAGGTAGTTGTTGGCCTGCCTCTCGCCTGCACGTCACTGCTGGACTAGCTGTCGCATGTG GCTGGGAGCTGCAAGGCCAGTGCTTGAGGGGCCCCAGCAGTTCCACAGGTGGTGAAGCCTGAGTTGGCAGAGGAGGAGCCAGAAGAGAAC TGCCCTTTCTGCACTGGTGGAAACTAGTTATTTATGCCATGTGGAGAGCCAGTGAGATAGATAGATAGTCTGTTTGTTTTGAGGACTTGG AAAGTTGTTCCTATGAAGCCTGGAGCTTGGATGGTTTTGAGAGGTTAATGGTGCCTCCACACTCACTCTTCCCTAGTTCCAGGATTACTG TCCTAGCAGCTAACGGTTCTACTCTCTTCCCCAGAGTGTAGACAGGCAGCAGGTCTCCCCACAGCTCTGAAAGGACCCTGGTGACAGCTA CACCCTCAGCACCAGGAGCTGGCCTTCCTGATGAGGGAGGCTTCCAGGAAACACAGAATCCACATGACCTTAAGATTATTTACAACTCAG TCATGGTGCTGCTGTCCTCCAGGCTTACTGGCCCCTCCTGACTGGCATCAGGGGCTTCCTCAGGTGGTGGAGAGAGTTTACTTTCAACAA CTAGTTTATTCAAGAAAAGAACTTACTGATTCCTCTGTTCCTAAAGCAAGAGTGGCAGGTGATCAGGGCTGGTGTAGCATCCGGTTCCTT TAGTGCAGCTAACTGCATTTGTCACTGATGACCAAGGAGGAAATCACTAAGACATTTGAGAAGCAGTGGTATGAACGTTCTTGGACAAGC CACAGTTCTGAGCCTTAACCCTGTAGTTTGCACACAAGAACGAGCTCCACCTCCCCTTCTTCAGGAGGAATCTGTGCGGATAGATTGGCT GGACTTTTCAATGGTTCTGGGTTGCAGGTGGGCACTGTATGGCTGGGTATGGAGCGGACAGCCCCCAGGAGTCAGAGCCTCAGCCCGGCT GCCCTGGTGGAAGGTACAGGTGTTCAGCACCTTCAGAAAAGGGCATAAAGTGGTGGGGGACAATTCTCAGTCCAGGAAAATGCATTGACC ATTGCTGGCTATTTGCTTACCTAGTAAGAATTGGATTCATTTTTGACCAGATTATTCTTCTATGCTTTTTTGCAATAAATCAAATCCCAC ATATCTACAAGTGGTATGAAGTCCTGCACCCCCCAGGAGGCCTGTCCAGGCATGTCTTCAGAGGCAGGGTGGGTTACACTCATTTACCTC CCCTCTCCCCACCAAATTATGACACAAACGAGTATGTTTCCTCTCTAGAACCCTGTAATGCCTCCTCCCCCATCCCCAGAGCTCCTTACT GTAGGTCTTACCCTGGACAAGGATTTTTTCAAGTTGGAGGCACAGAACATGAGCAATCTGACATTCCCACAGCCCCTCAAACATGCAAGG CTACTAAGGCAGGAGGAGTATAAATGATGGATATTGACCAAGACCTGCTTGGACGGAGACCGCCATATTATCTGTTCTCTTCGTTCACAA AACAGCCTTCACTTGTCTCAGAATTTGATGGACACATACTGTGATGAGCAGGAGCTTCAGATGCACTCTTTACACATTTTGTTGAAATAA >58666_58666_11_NF1-ACACA_NF1_chr17_29422387_ENST00000431387_ACACA_chr17_35518964_ENST00000360679_length(amino acids)=753AA_BP=62 MGACTPQTLSLPLPSPQPPLPALFPAQGAGPPFPPPPPGRGEDMAAHRPVEWVQAVVSRFDEQIGMVAWKMTFKSPEYPEGRDIIVIGND ITYRIGSFGPQEDLLFLRASELARAEGIPRIYVSANSGARIGLAEEIRHMFHVAWVDPEDPYKGYRYLYLTPQDYKRVSALNSVHCEHVE DEGESRYKITDIIGKEEGIGPENLRGSGMIAGESSLAYNEIITISLVTCRAIGIGAYLVRLGQRTIQVENSHLILTGAGALNKVLGREVY TSNNQLGGIQIMHNNGVTHCTVCDDFEGVFTVLHWLSYMPKSVHSSVPLLNSKDPIDRIIEFVPTKTPYDPRWMLAGRPHPTQKGQWLSG FFDYGSFSEIMQPWAQTVVVGRARLGGIPVGVVAVETRTVELSIPADPANLDSEAKIIQQAGQVWFPDSAFKTYQAIKDFNREGLPLMVF ANWRGFSGGMKDMYDQVLKFGAYIVDGLRECCQPVLVYIPPQAELRGGSWVVIDSSINPRHMEMYADRESRGSVLEPEGTVEIKFRRKDL VKTMRRVDPVYIHLAERLGTPELSTAERKELENKLKEREEFLIPIYHQVAVQFADLHDTPGRMQEKGVISDILDWKTSRTFFYWRLRRLL LEDLVKKKIHNANPELTDGQIQAMLRRWFVEVEGTVKAYVWDNNKDLAEWLEKQLTEEDGVHSVIEENIKCISRDYVLKQIRSLVQANPE -------------------------------------------------------------- >58666_58666_12_NF1-ACACA_NF1_chr17_29422387_ENST00000431387_ACACA_chr17_35518964_ENST00000394406_length(transcript)=4788nt_BP=393nt ACTTCCGGTGGGGTGTCATGGCGGCGTCTCGGACTGTGATGGCTGTGGGGAGACGGCGCTAGTGGGGAGAGCGACCAAGAGGCCCCCTCC CCTCCCCGGGTCCCCTTCCCCTATCCCCCTCCCCCCAGCCTCCTTGCCAACGCCCCCTTTCCCTCTCCCCCTCCCGCTCGGCGCTGACCC CCCATCCCCACCCCCGTGGGAACACTGGGAGCCTGCACTCCACAGACCCTCTCCTTGCCTCTTCCCTCACCTCAGCCTCCGCTCCCCGCC CTCTTCCCGGCCCAGGGCGCCGGCCCACCCTTCCCTCCGCCGCCCCCCGGCCGCGGGGAGGACATGGCCGCGCACAGGCCGGTGGAATGG GTCCAGGCCGTGGTCAGCCGCTTCGACGAGCAGATTGGCATGGTAGCTTGGAAAATGACCTTTAAAAGTCCTGAATATCCAGAAGGCCGA GATATCATTGTTATTGGCAATGACATCACATACCGAATTGGGTCCTTTGGGCCTCAAGAGGATTTGTTATTTCTCAGAGCTTCCGAACTT GCTAGGGCAGAAGGTATTCCACGCATCTATGTATCAGCCAACAGTGGAGCAAGAATCGGACTGGCAGAAGAAATTCGCCATATGTTTCAT GTGGCCTGGGTAGATCCTGAGGATCCTTACAAGGGATACAGGTATTTATATCTGACTCCTCAAGATTATAAGAGAGTCAGTGCTCTCAAC TCTGTCCATTGTGAACACGTGGAAGATGAAGGAGAATCCAGGTACAAGATAACAGATATTATTGGGAAAGAAGAGGGAATTGGACCCGAG AACCTTCGAGGTTCTGGAATGATTGCTGGAGAATCCTCATTGGCCTATAATGAGATCATTACCATCAGCCTGGTGACGTGCCGGGCCATT GGGATTGGGGCTTACCTTGTCCGGCTGGGACAGAGAACCATCCAGGTTGAGAATTCTCACTTAATTCTAACAGGAGCTGGAGCCCTCAAC AAAGTCCTCGGGCGGGAAGTGTACACCTCCAATAACCAGCTGGGGGGCATCCAGATTATGCACAACAATGGGGTGACCCACTGCACTGTG TGTGATGACTTTGAAGGGGTTTTCACTGTCCTGCACTGGCTGTCTTACATGCCCAAGAGCGTGCACAGTTCAGTTCCTCTTCTGAACTCA AAGGATCCTATAGACAGAATCATCGAGTTTGTTCCCACAAAGACCCCATACGATCCTCGATGGATGCTAGCAGGCCGTCCTCACCCAACC CAAAAAGGTCAGTGGTTGAGTGGCTTTTTTGACTATGGATCTTTCTCAGAGATTATGCAGCCCTGGGCACAGACTGTGGTGGTTGGTAGA GCCAGGCTAGGAGGAATACCTGTGGGAGTTGTTGCTGTAGAAACCCGAACAGTAGAACTAAGTATCCCAGCTGATCCAGCAAACCTGGAT TCTGAAGCCAAGATAATCCAGCAGGCTGGCCAGGTTTGGTTCCCAGATTCTGCGTTTAAGACATATCAGGCCATCAAGGACTTCAACCGG GAAGGGCTGCCTCTGATGGTCTTTGCCAACTGGAGAGGCTTCTCTGGTGGAATGAAAGATATGTACGACCAAGTGCTGAAGTTTGGTGCT TACATTGTGGATGGCTTGAGGGAGTGCTGCCAGCCTGTGCTGGTTTACATTCCTCCCCAGGCTGAGCTGCGGGGTGGCTCCTGGGTGGTG ATTGACTCCTCCATCAACCCCCGGCACATGGAGATGTATGCTGACCGAGAAAGCAGGGGATCTGTTCTGGAGCCAGAAGGGACAGTAGAA ATCAAATTCCGCAGAAAGGATCTGGTGAAAACCATGCGTCGGGTGGACCCAGTCTACATCCACTTGGCTGAGCGATTGGGGACCCCAGAG CTAAGCACAGCTGAGCGGAAGGAGTTGGAGAACAAGTTGAAGGAGCGGGAGGAATTCCTAATTCCCATTTACCATCAGGTAGCCGTGCAG TTTGCTGACTTGCACGACACACCAGGCCGGATGCAGGAGAAGGGTGTTATTAGCGATATCCTGGATTGGAAAACATCCCGTACCTTCTTC TACTGGCGGCTGAGGCGTCTTCTGCTGGAGGACCTGGTCAAGAAGAAAATCCACAATGCCAACCCTGAGCTGACTGATGGCCAGATTCAA GCCATGTTAAGGCGCTGGTTTGTGGAAGTGGAAGGAACAGTGAAGGCTTATGTTTGGGACAATAATAAGGATCTGGCGGAGTGGCTAGAG AAACAGCTGACAGAGGAGGATGGTGTTCACTCGGTAATAGAGGAAAACATCAAATGCATCAGCAGAGACTACGTCCTCAAGCAAATCCGC AGCTTGGTCCAGGCCAATCCAGAGGTTGCCATGGATTCCATCATCCATATGACGCAGCACATATCACCCACTCAGCGAGCAGAAGTCATA CGGATCCTCTCCACAATGGATTCCCCTTCCACGTAGGAAGAGCTTCCTGCCTGTCCCTGCCCTGTCTCTGGAGAAAAGGGCTAGAGCTGC CTTTTACAACTGTAACCACTGTAATGAGAAGGCACAGGAGACCCAGCACTGGAGTCAAATGGCATTTTACTTCCTCTCGTTTCAGGTTAT GCATGACATCCTGGGATGTAAGATCACAGAATCCCCCTCCAGCCCACCAGTCACACCTACCCCATTCAGTATTTATTACCCTGGCCAGGC CTAGTCCTCCACTCCCTGCACAGGACTGAGAAGGCAATGAAAGGTACAAACATGTACCATGAGGTCTTACTAACCAAAGTAGGGCTGCCC CTCCTGTCCTGACAGCCCCTTGGCCTCCCAGCATGGGGAAGCGTGAGGAGTTGCCCAGCAGTGAGCAGCCCCCCTCACTCCTGGCCCCAT GAGCCGCAGCCACAGGCAGCAGAGGAGGGCTAAGGAGAGGAGGAAGCCTCAAGTCCATTGTTTATTACCCCGACTCTTAGCCCAGCACAC AGTAGGCACTGGAGAGGAATGATTCCCAGTTTAACCACACTACGGTACCTTTTATGAAGAAAAATTAGAGCATAAAATCTACTACAAGCT CCATAGGAACTCAAAGATGAGGGCAAAACTGTGAGCCAAGAAGCAGAGAAAGAAAATAGAACCAGTTATTCTTGATTTAGGGGACCTCAA CCTTGGGTTCAGTCTCTGAGGACAAAGGGAAAGGTAGTTGTTGGCCTGCCTCTCGCCTGCACGTCACTGCTGGACTAGCTGTCGCATGTG GCTGGGAGCTGCAAGGCCAGTGCTTGAGGGGCCCCAGCAGTTCCACAGGTGGTGAAGCCTGAGTTGGCAGAGGAGGAGCCAGAAGAGAAC TGCCCTTTCTGCACTGGTGGAAACTAGTTATTTATGCCATGTGGAGAGCCAGTGAGATAGATAGATAGTCTGTTTGTTTTGAGGACTTGG AAAGTTGTTCCTATGAAGCCTGGAGCTTGGATGGTTTTGAGAGGTTAATGGTGCCTCCACACTCACTCTTCCCTAGTTCCAGGATTACTG TCCTAGCAGCTAACGGTTCTACTCTCTTCCCCAGAGTGTAGACAGGCAGCAGGTCTCCCCACAGCTCTGAAAGGACCCTGGTGACAGCTA CACCCTCAGCACCAGGAGCTGGCCTTCCTGATGAGGGAGGCTTCCAGGAAACACAGAATCCACATGACCTTAAGATTATTTACAACTCAG TCATGGTGCTGCTGTCCTCCAGGCTTACTGGCCCCTCCTGACTGGCATCAGGGGCTTCCTCAGGTGGTGGAGAGAGTTTACTTTCAACAA CTAGTTTATTCAAGAAAAGAACTTACTGATTCCTCTGTTCCTAAAGCAAGAGTGGCAGGTGATCAGGGCTGGTGTAGCATCCGGTTCCTT TAGTGCAGCTAACTGCATTTGTCACTGATGACCAAGGAGGAAATCACTAAGACATTTGAGAAGCAGTGGTATGAACGTTCTTGGACAAGC CACAGTTCTGAGCCTTAACCCTGTAGTTTGCACACAAGAACGAGCTCCACCTCCCCTTCTTCAGGAGGAATCTGTGCGGATAGATTGGCT GGACTTTTCAATGGTTCTGGGTTGCAGGTGGGCACTGTATGGCTGGGTATGGAGCGGACAGCCCCCAGGAGTCAGAGCCTCAGCCCGGCT GCCCTGGTGGAAGGTACAGGTGTTCAGCACCTTCAGAAAAGGGCATAAAGTGGTGGGGGACAATTCTCAGTCCAGGAAAATGCATTGACC ATTGCTGGCTATTTGCTTACCTAGTAAGAATTGGATTCATTTTTGACCAGATTATTCTTCTATGCTTTTTTGCAATAAATCAAATCCCAC ATATCTACAAGTGGTATGAAGTCCTGCACCCCCCAGGAGGCCTGTCCAGGCATGTCTTCAGAGGCAGGGTGGGTTACACTCATTTACCTC CCCTCTCCCCACCAAATTATGACACAAACGAGTATGTTTCCTCTCTAGAACCCTGTAATGCCTCCTCCCCCATCCCCAGAGCTCCTTACT GTAGGTCTTACCCTGGACAAGGATTTTTTCAAGTTGGAGGCACAGAACATGAGCAATCTGACATTCCCACAGCCCCTCAAACATGCAAGG CTACTAAGGCAGGAGGAGTATAAATGATGGATATTGACCAAGACCTGCTTGGACGGAGACCGCCATATTATCTGTTCTCTTCGTTCACAA AACAGCCTTCACTTGTCTCAGAATTTGATGGACACATACTGTGATGAGCAGGAGCTTCAGATGCACTCTTTACACATTTTGTTGAAATAA >58666_58666_12_NF1-ACACA_NF1_chr17_29422387_ENST00000431387_ACACA_chr17_35518964_ENST00000394406_length(amino acids)=753AA_BP=62 MGACTPQTLSLPLPSPQPPLPALFPAQGAGPPFPPPPPGRGEDMAAHRPVEWVQAVVSRFDEQIGMVAWKMTFKSPEYPEGRDIIVIGND ITYRIGSFGPQEDLLFLRASELARAEGIPRIYVSANSGARIGLAEEIRHMFHVAWVDPEDPYKGYRYLYLTPQDYKRVSALNSVHCEHVE DEGESRYKITDIIGKEEGIGPENLRGSGMIAGESSLAYNEIITISLVTCRAIGIGAYLVRLGQRTIQVENSHLILTGAGALNKVLGREVY TSNNQLGGIQIMHNNGVTHCTVCDDFEGVFTVLHWLSYMPKSVHSSVPLLNSKDPIDRIIEFVPTKTPYDPRWMLAGRPHPTQKGQWLSG FFDYGSFSEIMQPWAQTVVVGRARLGGIPVGVVAVETRTVELSIPADPANLDSEAKIIQQAGQVWFPDSAFKTYQAIKDFNREGLPLMVF ANWRGFSGGMKDMYDQVLKFGAYIVDGLRECCQPVLVYIPPQAELRGGSWVVIDSSINPRHMEMYADRESRGSVLEPEGTVEIKFRRKDL VKTMRRVDPVYIHLAERLGTPELSTAERKELENKLKEREEFLIPIYHQVAVQFADLHDTPGRMQEKGVISDILDWKTSRTFFYWRLRRLL LEDLVKKKIHNANPELTDGQIQAMLRRWFVEVEGTVKAYVWDNNKDLAEWLEKQLTEEDGVHSVIEENIKCISRDYVLKQIRSLVQANPE -------------------------------------------------------------- |
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Fusion Gene PPI Analysis for NF1-ACACA |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs for NF1-ACACA |
![]() (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 NF1-ACACA |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | NF1 | C0027831 | Neurofibromatosis 1 | 44 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
Hgene | NF1 | C1708353 | Hereditary Paraganglioma-Pheochromocytoma Syndrome | 10 | CLINGEN |
Hgene | NF1 | C0349639 | Juvenile Myelomonocytic Leukemia | 7 | CTD_human;GENOMICS_ENGLAND;ORPHANET |
Hgene | NF1 | C2931482 | Neurofibromatosis-Noonan syndrome | 6 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Hgene | NF1 | C0553586 | Cafe-au-lait macules with pulmonary stenosis | 5 | CTD_human;GENOMICS_ENGLAND;ORPHANET |
Hgene | NF1 | C0162678 | Neurofibromatoses | 3 | CGI;CTD_human;GENOMICS_ENGLAND |
Hgene | NF1 | C0004114 | Astrocytoma | 2 | CTD_human |
Hgene | NF1 | C0023467 | Leukemia, Myelocytic, Acute | 2 | CTD_human |
Hgene | NF1 | C0025202 | melanoma | 2 | CGI;CTD_human |
Hgene | NF1 | C0026998 | Acute Myeloid Leukemia, M1 | 2 | CTD_human |
Hgene | NF1 | C0205768 | Subependymal Giant Cell Astrocytoma | 2 | CTD_human |
Hgene | NF1 | C0206727 | Nerve Sheath Tumors | 2 | CTD_human |
Hgene | NF1 | C0280783 | Juvenile Pilocytic Astrocytoma | 2 | CTD_human |
Hgene | NF1 | C0280785 | Diffuse Astrocytoma | 2 | CTD_human |
Hgene | NF1 | C0334579 | Anaplastic astrocytoma | 2 | CTD_human |
Hgene | NF1 | C0334580 | Protoplasmic astrocytoma | 2 | CTD_human |
Hgene | NF1 | C0334581 | Gemistocytic astrocytoma | 2 | CTD_human |
Hgene | NF1 | C0334582 | Fibrillary Astrocytoma | 2 | CTD_human |
Hgene | NF1 | C0334583 | Pilocytic Astrocytoma | 2 | CTD_human |
Hgene | NF1 | C0338070 | Childhood Cerebral Astrocytoma | 2 | CTD_human |
Hgene | NF1 | C0547065 | Mixed oligoastrocytoma | 2 | CTD_human |
Hgene | NF1 | C0750935 | Cerebral Astrocytoma | 2 | CTD_human |
Hgene | NF1 | C0750936 | Intracranial Astrocytoma | 2 | CTD_human |
Hgene | NF1 | C0751689 | Peripheral Nerve Sheath Neoplasm | 2 | CTD_human |
Hgene | NF1 | C0751691 | Perineurioma | 2 | CTD_human |
Hgene | NF1 | C1704230 | Grade I Astrocytoma | 2 | CTD_human |
Hgene | NF1 | C1834235 | NEUROFIBROMATOSIS, FAMILIAL SPINAL | 2 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
Hgene | NF1 | C1879321 | Acute Myeloid Leukemia (AML-M2) | 2 | CTD_human |
Hgene | NF1 | C0001430 | Adenoma | 1 | CTD_human |
Hgene | NF1 | C0004352 | Autistic Disorder | 1 | CTD_human |
Hgene | NF1 | C0016057 | Fibrosarcoma | 1 | CTD_human |
Hgene | NF1 | C0017636 | Glioblastoma | 1 | CTD_human |
Hgene | NF1 | C0017638 | Glioma | 1 | CGI;CTD_human |
Hgene | NF1 | C0020796 | Profound Mental Retardation | 1 | CTD_human |
Hgene | NF1 | C0023186 | Learning Disorders | 1 | CTD_human |
Hgene | NF1 | C0023827 | liposarcoma | 1 | CTD_human |
Hgene | NF1 | C0025363 | Mental Retardation, Psychosocial | 1 | CTD_human |
Hgene | NF1 | C0026654 | Moyamoya Disease | 1 | GENOMICS_ENGLAND |
Hgene | NF1 | C0027809 | Neurilemmoma | 1 | CTD_human |
Hgene | NF1 | C0027830 | neurofibroma | 1 | CTD_human |
Hgene | NF1 | C0027962 | Melanocytic nevus | 1 | CTD_human |
Hgene | NF1 | C0028326 | Noonan Syndrome | 1 | GENOMICS_ENGLAND |
Hgene | NF1 | C0031511 | Pheochromocytoma | 1 | CTD_human |
Hgene | NF1 | C0035320 | Retinal Neovascularization | 1 | CTD_human |
Hgene | NF1 | C0205646 | Adenoma, Basal Cell | 1 | CTD_human |
Hgene | NF1 | C0205647 | Follicular adenoma | 1 | CTD_human |
Hgene | NF1 | C0205648 | Adenoma, Microcystic | 1 | CTD_human |
Hgene | NF1 | C0205649 | Adenoma, Monomorphic | 1 | CTD_human |
Hgene | NF1 | C0205650 | Papillary adenoma | 1 | CTD_human |
Hgene | NF1 | C0205651 | Adenoma, Trabecular | 1 | CTD_human |
Hgene | NF1 | C0205824 | Liposarcoma, Dedifferentiated | 1 | CTD_human |
Hgene | NF1 | C0205825 | Liposarcoma, Pleomorphic | 1 | CTD_human |
Hgene | NF1 | C0205944 | Sarcoma, Epithelioid | 1 | CTD_human |
Hgene | NF1 | C0205945 | Sarcoma, Spindle Cell | 1 | CTD_human |
Hgene | NF1 | C0259783 | mixed gliomas | 1 | CTD_human |
Hgene | NF1 | C0334588 | Giant Cell Glioblastoma | 1 | CTD_human |
Hgene | NF1 | C0555198 | Malignant Glioma | 1 | CTD_human |
Hgene | NF1 | C0751262 | Adult Learning Disorders | 1 | CTD_human |
Hgene | NF1 | C0751263 | Learning Disturbance | 1 | CTD_human |
Hgene | NF1 | C0751265 | Learning Disabilities | 1 | CTD_human |
Hgene | NF1 | C0751374 | Schwannomatosis, Plexiform | 1 | CTD_human |
Hgene | NF1 | C0917816 | Mental deficiency | 1 | CTD_human |
Hgene | NF1 | C0917817 | Neurofibromatosis 3 | 1 | CTD_human |
Hgene | NF1 | C1257877 | Pheochromocytoma, Extra-Adrenal | 1 | CTD_human |
Hgene | NF1 | C1261473 | Sarcoma | 1 | CTD_human |
Hgene | NF1 | C1330966 | Developmental Academic Disorder | 1 | CTD_human |
Hgene | NF1 | C1370889 | Liposarcoma, well differentiated | 1 | CTD_human |
Hgene | NF1 | C1621958 | Glioblastoma Multiforme | 1 | CTD_human |
Hgene | NF1 | C3150928 | NF1 Microdeletion Syndrome | 1 | ORPHANET |
Hgene | NF1 | C3714756 | Intellectual Disability | 1 | CTD_human |
Tgene | C0018801 | Heart failure | 1 | CTD_human | |
Tgene | C0018802 | Congestive heart failure | 1 | CTD_human | |
Tgene | C0023212 | Left-Sided Heart Failure | 1 | CTD_human | |
Tgene | C0235527 | Heart Failure, Right-Sided | 1 | CTD_human | |
Tgene | C1959583 | Myocardial Failure | 1 | CTD_human | |
Tgene | C1961112 | Heart Decompensation | 1 | CTD_human | |
Tgene | C2239176 | Liver carcinoma | 1 | CTD_human |