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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:CNTNAP3-FRG1 (FusionGDB2 ID:HG79937TG2483) |
Fusion Gene Summary for CNTNAP3-FRG1 |
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Fusion gene information | Fusion gene name: CNTNAP3-FRG1 | Fusion gene ID: hg79937tg2483 | Hgene | Tgene | Gene symbol | CNTNAP3 | FRG1 | Gene ID | 79937 | 2483 |
Gene name | contactin associated protein family member 3 | FSHD region gene 1 | |
Synonyms | CASPR3|CNTNAP3A | FRG1A|FSG1 | |
Cytomap | ('CNTNAP3')('FRG1') 9p12 | 4q35.2 | |
Type of gene | protein-coding | protein-coding | |
Description | contactin-associated protein-like 3cell recognition molecule Caspr3contactin associated protein like 3 | protein FRG1FSHD region gene 1 proteinfacioscapulohumeral muscular dystrophy region gene-1 | |
Modification date | 20200329 | 20200313 | |
UniProtAcc | . | Q14331 | |
Ensembl transtripts involved in fusion gene | ENST00000297668, ENST00000323947, ENST00000358144, ENST00000377656, ENST00000377659, ENST00000377653, | ||
Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 5 X 3 X 5=75 |
# samples | 1 | 5 | |
** MAII score | log2(1/1*10)=3.32192809488736 | log2(5/75*10)=-0.584962500721156 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: CNTNAP3 [Title/Abstract] AND FRG1 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | CNTNAP3(39238990)-FRG1(190878553), # samples:1 CNTNAP3(39238990)-FRG1(190881903), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. | CNTNAP3-FRG1 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. CNTNAP3-FRG1 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. CNTNAP3-FRG1 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. CNTNAP3-FRG1 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 |
![]() * 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 | BLCA | TCGA-XF-A9T4 | CNTNAP3 | chr9 | 39238990 | - | FRG1 | chr4 | 190878553 | + |
ChimerDB4 | BLCA | TCGA-XF-A9T4 | CNTNAP3 | chr9 | 39238990 | - | FRG1 | chr4 | 190881903 | + |
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Fusion Gene ORF analysis for CNTNAP3-FRG1 |
![]() * 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-3UTR | ENST00000297668 | ENST00000514482 | CNTNAP3 | chr9 | 39238990 | - | FRG1 | chr4 | 190878553 | + |
5CDS-3UTR | ENST00000323947 | ENST00000514482 | CNTNAP3 | chr9 | 39238990 | - | FRG1 | chr4 | 190878553 | + |
5CDS-3UTR | ENST00000358144 | ENST00000514482 | CNTNAP3 | chr9 | 39238990 | - | FRG1 | chr4 | 190878553 | + |
5CDS-3UTR | ENST00000377656 | ENST00000514482 | CNTNAP3 | chr9 | 39238990 | - | FRG1 | chr4 | 190878553 | + |
5CDS-3UTR | ENST00000377659 | ENST00000514482 | CNTNAP3 | chr9 | 39238990 | - | FRG1 | chr4 | 190878553 | + |
5CDS-intron | ENST00000297668 | ENST00000514482 | CNTNAP3 | chr9 | 39238990 | - | FRG1 | chr4 | 190881903 | + |
5CDS-intron | ENST00000323947 | ENST00000514482 | CNTNAP3 | chr9 | 39238990 | - | FRG1 | chr4 | 190881903 | + |
5CDS-intron | ENST00000358144 | ENST00000514482 | CNTNAP3 | chr9 | 39238990 | - | FRG1 | chr4 | 190881903 | + |
5CDS-intron | ENST00000377656 | ENST00000514482 | CNTNAP3 | chr9 | 39238990 | - | FRG1 | chr4 | 190881903 | + |
5CDS-intron | ENST00000377659 | ENST00000514482 | CNTNAP3 | chr9 | 39238990 | - | FRG1 | chr4 | 190881903 | + |
5UTR-3CDS | ENST00000377653 | ENST00000226798 | CNTNAP3 | chr9 | 39238990 | - | FRG1 | chr4 | 190878553 | + |
5UTR-3CDS | ENST00000377653 | ENST00000226798 | CNTNAP3 | chr9 | 39238990 | - | FRG1 | chr4 | 190881903 | + |
5UTR-3UTR | ENST00000377653 | ENST00000514482 | CNTNAP3 | chr9 | 39238990 | - | FRG1 | chr4 | 190878553 | + |
5UTR-intron | ENST00000377653 | ENST00000514482 | CNTNAP3 | chr9 | 39238990 | - | FRG1 | chr4 | 190881903 | + |
In-frame | ENST00000297668 | ENST00000226798 | CNTNAP3 | chr9 | 39238990 | - | FRG1 | chr4 | 190878553 | + |
In-frame | ENST00000297668 | ENST00000226798 | CNTNAP3 | chr9 | 39238990 | - | FRG1 | chr4 | 190881903 | + |
In-frame | ENST00000323947 | ENST00000226798 | CNTNAP3 | chr9 | 39238990 | - | FRG1 | chr4 | 190878553 | + |
In-frame | ENST00000323947 | ENST00000226798 | CNTNAP3 | chr9 | 39238990 | - | FRG1 | chr4 | 190881903 | + |
In-frame | ENST00000358144 | ENST00000226798 | CNTNAP3 | chr9 | 39238990 | - | FRG1 | chr4 | 190878553 | + |
In-frame | ENST00000358144 | ENST00000226798 | CNTNAP3 | chr9 | 39238990 | - | FRG1 | chr4 | 190881903 | + |
In-frame | ENST00000377656 | ENST00000226798 | CNTNAP3 | chr9 | 39238990 | - | FRG1 | chr4 | 190878553 | + |
In-frame | ENST00000377656 | ENST00000226798 | CNTNAP3 | chr9 | 39238990 | - | FRG1 | chr4 | 190881903 | + |
In-frame | ENST00000377659 | ENST00000226798 | CNTNAP3 | chr9 | 39238990 | - | FRG1 | chr4 | 190878553 | + |
In-frame | ENST00000377659 | ENST00000226798 | CNTNAP3 | chr9 | 39238990 | - | FRG1 | chr4 | 190881903 | + |
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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) |
ENST00000297668 | CNTNAP3 | chr9 | 39238990 | - | ENST00000226798 | FRG1 | chr4 | 190878553 | + | 884 | 464 | 59 | 808 | 249 |
ENST00000377656 | CNTNAP3 | chr9 | 39238990 | - | ENST00000226798 | FRG1 | chr4 | 190878553 | + | 954 | 534 | 129 | 878 | 249 |
ENST00000358144 | CNTNAP3 | chr9 | 39238990 | - | ENST00000226798 | FRG1 | chr4 | 190878553 | + | 602 | 182 | 32 | 526 | 164 |
ENST00000323947 | CNTNAP3 | chr9 | 39238990 | - | ENST00000226798 | FRG1 | chr4 | 190878553 | + | 841 | 421 | 16 | 765 | 249 |
ENST00000377659 | CNTNAP3 | chr9 | 39238990 | - | ENST00000226798 | FRG1 | chr4 | 190878553 | + | 1049 | 629 | 224 | 973 | 249 |
ENST00000297668 | CNTNAP3 | chr9 | 39238990 | - | ENST00000226798 | FRG1 | chr4 | 190881903 | + | 779 | 464 | 59 | 703 | 214 |
ENST00000377656 | CNTNAP3 | chr9 | 39238990 | - | ENST00000226798 | FRG1 | chr4 | 190881903 | + | 849 | 534 | 129 | 773 | 214 |
ENST00000358144 | CNTNAP3 | chr9 | 39238990 | - | ENST00000226798 | FRG1 | chr4 | 190881903 | + | 497 | 182 | 478 | 14 | 154 |
ENST00000323947 | CNTNAP3 | chr9 | 39238990 | - | ENST00000226798 | FRG1 | chr4 | 190881903 | + | 736 | 421 | 16 | 660 | 214 |
ENST00000377659 | CNTNAP3 | chr9 | 39238990 | - | ENST00000226798 | FRG1 | chr4 | 190881903 | + | 944 | 629 | 224 | 868 | 214 |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
ENST00000297668 | ENST00000226798 | CNTNAP3 | chr9 | 39238990 | - | FRG1 | chr4 | 190878553 | + | 0.008831367 | 0.9911686 |
ENST00000377656 | ENST00000226798 | CNTNAP3 | chr9 | 39238990 | - | FRG1 | chr4 | 190878553 | + | 0.011184157 | 0.9888158 |
ENST00000358144 | ENST00000226798 | CNTNAP3 | chr9 | 39238990 | - | FRG1 | chr4 | 190878553 | + | 0.015236977 | 0.98476297 |
ENST00000323947 | ENST00000226798 | CNTNAP3 | chr9 | 39238990 | - | FRG1 | chr4 | 190878553 | + | 0.00737954 | 0.99262047 |
ENST00000377659 | ENST00000226798 | CNTNAP3 | chr9 | 39238990 | - | FRG1 | chr4 | 190878553 | + | 0.011300257 | 0.98869973 |
ENST00000297668 | ENST00000226798 | CNTNAP3 | chr9 | 39238990 | - | FRG1 | chr4 | 190881903 | + | 0.021643687 | 0.9783563 |
ENST00000377656 | ENST00000226798 | CNTNAP3 | chr9 | 39238990 | - | FRG1 | chr4 | 190881903 | + | 0.02690384 | 0.9730962 |
ENST00000358144 | ENST00000226798 | CNTNAP3 | chr9 | 39238990 | - | FRG1 | chr4 | 190881903 | + | 0.08888291 | 0.91111714 |
ENST00000323947 | ENST00000226798 | CNTNAP3 | chr9 | 39238990 | - | FRG1 | chr4 | 190881903 | + | 0.016678648 | 0.9833213 |
ENST00000377659 | ENST00000226798 | CNTNAP3 | chr9 | 39238990 | - | FRG1 | chr4 | 190881903 | + | 0.02202492 | 0.97797513 |
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Fusion Genomic Features for CNTNAP3-FRG1 |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
CNTNAP3 | chr9 | 39238989 | - | FRG1 | chr4 | 190881902 | + | 0.45564675 | 0.54435325 |
CNTNAP3 | chr9 | 39238989 | - | FRG1 | chr4 | 190878552 | + | 0.115748495 | 0.88425153 |
CNTNAP3 | chr9 | 39238989 | - | FRG1 | chr4 | 190881902 | + | 0.45564675 | 0.54435325 |
CNTNAP3 | chr9 | 39238989 | - | FRG1 | chr4 | 190878552 | + | 0.115748495 | 0.88425153 |
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Fusion Protein Features for CNTNAP3-FRG1 |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr9:39238990/chr4:190878553) - 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 |
. | FRG1 |
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. | FUNCTION: Binds to mRNA in a sequence-independent manner. May play a role in regulation of pre-mRNA splicing or in the assembly of rRNA into ribosomal subunits. May be involved in mRNA transport. May be involved in epigenetic regulation of muscle differentiation through regulation of activity of the histone-lysine N-methyltransferase KMT5B. {ECO:0000269|PubMed:11991638, ECO:0000269|PubMed:15060122, ECO:0000269|PubMed:20970242, ECO:0000269|PubMed:21699900, ECO:0000269|PubMed:23720823}. |
![]() * Minus value of BPloci means that the break pointn is located before the CDS. |
- In-frame and retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
Hgene | CNTNAP3 | chr9:39238990 | chr4:190878553 | ENST00000297668 | - | 3 | 24 | 42_48 | 130 | 1289.0 | Compositional bias | Note=Poly-Ser |
Hgene | CNTNAP3 | chr9:39238990 | chr4:190881903 | ENST00000297668 | - | 3 | 24 | 42_48 | 130 | 1289.0 | Compositional bias | Note=Poly-Ser |
Tgene | FRG1 | chr9:39238990 | chr4:190878553 | ENST00000226798 | 4 | 9 | 235_251 | 144 | 259.0 | Motif | Bipartite nuclear localization signal | |
Tgene | FRG1 | chr9:39238990 | chr4:190881903 | ENST00000226798 | 5 | 9 | 235_251 | 179 | 259.0 | Motif | Bipartite nuclear localization signal |
- 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 | CNTNAP3 | chr9:39238990 | chr4:190878553 | ENST00000297668 | - | 3 | 24 | 1015_1203 | 130 | 1289.0 | Domain | Laminin G-like 4 |
Hgene | CNTNAP3 | chr9:39238990 | chr4:190878553 | ENST00000297668 | - | 3 | 24 | 183_364 | 130 | 1289.0 | Domain | Laminin G-like 1 |
Hgene | CNTNAP3 | chr9:39238990 | chr4:190878553 | ENST00000297668 | - | 3 | 24 | 370_545 | 130 | 1289.0 | Domain | Laminin G-like 2 |
Hgene | CNTNAP3 | chr9:39238990 | chr4:190878553 | ENST00000297668 | - | 3 | 24 | 551_583 | 130 | 1289.0 | Domain | EGF-like 1 |
Hgene | CNTNAP3 | chr9:39238990 | chr4:190878553 | ENST00000297668 | - | 3 | 24 | 584_792 | 130 | 1289.0 | Domain | Fibrinogen C-terminal |
Hgene | CNTNAP3 | chr9:39238990 | chr4:190878553 | ENST00000297668 | - | 3 | 24 | 793_958 | 130 | 1289.0 | Domain | Laminin G-like 3 |
Hgene | CNTNAP3 | chr9:39238990 | chr4:190878553 | ENST00000297668 | - | 3 | 24 | 962_996 | 130 | 1289.0 | Domain | EGF-like 2 |
Hgene | CNTNAP3 | chr9:39238990 | chr4:190881903 | ENST00000297668 | - | 3 | 24 | 1015_1203 | 130 | 1289.0 | Domain | Laminin G-like 4 |
Hgene | CNTNAP3 | chr9:39238990 | chr4:190881903 | ENST00000297668 | - | 3 | 24 | 183_364 | 130 | 1289.0 | Domain | Laminin G-like 1 |
Hgene | CNTNAP3 | chr9:39238990 | chr4:190881903 | ENST00000297668 | - | 3 | 24 | 370_545 | 130 | 1289.0 | Domain | Laminin G-like 2 |
Hgene | CNTNAP3 | chr9:39238990 | chr4:190881903 | ENST00000297668 | - | 3 | 24 | 551_583 | 130 | 1289.0 | Domain | EGF-like 1 |
Hgene | CNTNAP3 | chr9:39238990 | chr4:190881903 | ENST00000297668 | - | 3 | 24 | 584_792 | 130 | 1289.0 | Domain | Fibrinogen C-terminal |
Hgene | CNTNAP3 | chr9:39238990 | chr4:190881903 | ENST00000297668 | - | 3 | 24 | 793_958 | 130 | 1289.0 | Domain | Laminin G-like 3 |
Hgene | CNTNAP3 | chr9:39238990 | chr4:190881903 | ENST00000297668 | - | 3 | 24 | 962_996 | 130 | 1289.0 | Domain | EGF-like 2 |
Hgene | CNTNAP3 | chr9:39238990 | chr4:190878553 | ENST00000297668 | - | 3 | 24 | 1267_1288 | 130 | 1289.0 | Topological domain | Cytoplasmic |
Hgene | CNTNAP3 | chr9:39238990 | chr4:190878553 | ENST00000297668 | - | 3 | 24 | 26_1245 | 130 | 1289.0 | Topological domain | Extracellular |
Hgene | CNTNAP3 | chr9:39238990 | chr4:190881903 | ENST00000297668 | - | 3 | 24 | 1267_1288 | 130 | 1289.0 | Topological domain | Cytoplasmic |
Hgene | CNTNAP3 | chr9:39238990 | chr4:190881903 | ENST00000297668 | - | 3 | 24 | 26_1245 | 130 | 1289.0 | Topological domain | Extracellular |
Hgene | CNTNAP3 | chr9:39238990 | chr4:190878553 | ENST00000297668 | - | 3 | 24 | 1246_1266 | 130 | 1289.0 | Transmembrane | Helical |
Hgene | CNTNAP3 | chr9:39238990 | chr4:190881903 | ENST00000297668 | - | 3 | 24 | 1246_1266 | 130 | 1289.0 | Transmembrane | Helical |
Tgene | FRG1 | chr9:39238990 | chr4:190878553 | ENST00000226798 | 4 | 9 | 8_32 | 144 | 259.0 | Compositional bias | Note=Lys-rich | |
Tgene | FRG1 | chr9:39238990 | chr4:190881903 | ENST00000226798 | 5 | 9 | 8_32 | 179 | 259.0 | Compositional bias | Note=Lys-rich | |
Tgene | FRG1 | chr9:39238990 | chr4:190878553 | ENST00000226798 | 4 | 9 | 22_32 | 144 | 259.0 | Motif | Nuclear localization signal | |
Tgene | FRG1 | chr9:39238990 | chr4:190881903 | ENST00000226798 | 5 | 9 | 22_32 | 179 | 259.0 | Motif | Nuclear localization signal |
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Fusion Gene Sequence for CNTNAP3-FRG1 |
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>17925_17925_1_CNTNAP3-FRG1_CNTNAP3_chr9_39238990_ENST00000297668_FRG1_chr4_190878553_ENST00000226798_length(transcript)=884nt_BP=464nt CGGGAGTGAGAGCAGGAGCGACGCAGAGCGGCCGTCGCCGTGCCCGGGTCTCAGGGCGCCTGGCTGAAGTGAGCATGGCTTCAGTGGCCT GGGCCGTCCTCAAGGTGCTGCTGCTTCTCCCCACTCAGACTTGGAGCCCCGTGGGAGCAGGAAATCCACCTGACTGTGATGCCCCACTGG CCTCTGCCTTGCCTAGGTCATCCTTCAGCAGCTCCTCAGAGCTGTCCAGCAGCCACGGCCCGGGGTTTTCAAGGCTTAATCGAAGAGATG GAGCTGGTGGCTGGACTCCACTTGTGTCAAATAAATACCAATGGCTGCAAATTGACCTTGGAGAGAGAATGGAGGTCACTGCTGTCGCCA CCCAAGGAGGATATGGGAGCTCTGACTGGGTGACCAGCTACCTCCTGATGTTCAGTGATGGTGGGAGAAACTGGAAGCAGTATCGCCGAG AAGAAAGCATCTGGGGGAAAATGGCTTTGTTGGCCTCAAATAGCTGCTTTATTAGATGCAATGAAGCAGGGGACATAGAAGCAAAAAGTA AAACAGCAGGAGAAGAAGAAATGATCAAGATTAGATCCTGTGCTGAAAGAGAAACCAAGAAAAAAGATGACATTCCAGAAGAAGACAAAG GAAATGTAAAACAATGTGAAATCAATTATGTAAAGAAATTTCAGAGCTTCCAAGACCACAAACTTAAAATAAGTAAAGAAGACAGTAAAA TTCTTAAAAAGGCTCGGAAAGATGGATTTTTGCATGAGACGCTTCTGGACAGGAGAGCCAAATTGAAAGCCGACAGATACTGCAAGTGAC TGGGATTTTTGTTTCTGCCTTATCTTTCTGTGTTTTTTTCTGAATAAAATATTCAGAGGAAATGCTTTTACAGA >17925_17925_1_CNTNAP3-FRG1_CNTNAP3_chr9_39238990_ENST00000297668_FRG1_chr4_190878553_ENST00000226798_length(amino acids)=249AA_BP=135 MAEVSMASVAWAVLKVLLLLPTQTWSPVGAGNPPDCDAPLASALPRSSFSSSSELSSSHGPGFSRLNRRDGAGGWTPLVSNKYQWLQIDL GERMEVTAVATQGGYGSSDWVTSYLLMFSDGGRNWKQYRREESIWGKMALLASNSCFIRCNEAGDIEAKSKTAGEEEMIKIRSCAERETK KKDDIPEEDKGNVKQCEINYVKKFQSFQDHKLKISKEDSKILKKARKDGFLHETLLDRRAKLKADRYCK -------------------------------------------------------------- >17925_17925_2_CNTNAP3-FRG1_CNTNAP3_chr9_39238990_ENST00000297668_FRG1_chr4_190881903_ENST00000226798_length(transcript)=779nt_BP=464nt CGGGAGTGAGAGCAGGAGCGACGCAGAGCGGCCGTCGCCGTGCCCGGGTCTCAGGGCGCCTGGCTGAAGTGAGCATGGCTTCAGTGGCCT GGGCCGTCCTCAAGGTGCTGCTGCTTCTCCCCACTCAGACTTGGAGCCCCGTGGGAGCAGGAAATCCACCTGACTGTGATGCCCCACTGG CCTCTGCCTTGCCTAGGTCATCCTTCAGCAGCTCCTCAGAGCTGTCCAGCAGCCACGGCCCGGGGTTTTCAAGGCTTAATCGAAGAGATG GAGCTGGTGGCTGGACTCCACTTGTGTCAAATAAATACCAATGGCTGCAAATTGACCTTGGAGAGAGAATGGAGGTCACTGCTGTCGCCA CCCAAGGAGGATATGGGAGCTCTGACTGGGTGACCAGCTACCTCCTGATGTTCAGTGATGGTGGGAGAAACTGGAAGCAGTATCGCCGAG AAGAAAGCATCTGGATTAGATCCTGTGCTGAAAGAGAAACCAAGAAAAAAGATGACATTCCAGAAGAAGACAAAGGAAATGTAAAACAAT GTGAAATCAATTATGTAAAGAAATTTCAGAGCTTCCAAGACCACAAACTTAAAATAAGTAAAGAAGACAGTAAAATTCTTAAAAAGGCTC GGAAAGATGGATTTTTGCATGAGACGCTTCTGGACAGGAGAGCCAAATTGAAAGCCGACAGATACTGCAAGTGACTGGGATTTTTGTTTC TGCCTTATCTTTCTGTGTTTTTTTCTGAATAAAATATTCAGAGGAAATGCTTTTACAGA >17925_17925_2_CNTNAP3-FRG1_CNTNAP3_chr9_39238990_ENST00000297668_FRG1_chr4_190881903_ENST00000226798_length(amino acids)=214AA_BP=133 MAEVSMASVAWAVLKVLLLLPTQTWSPVGAGNPPDCDAPLASALPRSSFSSSSELSSSHGPGFSRLNRRDGAGGWTPLVSNKYQWLQIDL GERMEVTAVATQGGYGSSDWVTSYLLMFSDGGRNWKQYRREESIWIRSCAERETKKKDDIPEEDKGNVKQCEINYVKKFQSFQDHKLKIS KEDSKILKKARKDGFLHETLLDRRAKLKADRYCK -------------------------------------------------------------- >17925_17925_3_CNTNAP3-FRG1_CNTNAP3_chr9_39238990_ENST00000323947_FRG1_chr4_190878553_ENST00000226798_length(transcript)=841nt_BP=421nt CCGGGTCTCAGGGCGCCTGGCTGAAGTGAGCATGGCTTCAGTGGCCTGGGCCGTCCTCAAGGTGCTGCTGCTTCTCCCCACTCAGACTTG GAGCCCCGTGGGAGCAGGAAATCCACCTGACTGTGATGCCCCACTGGCCTCTGCCTTGCCTAGGTCATCCTTCAGCAGCTCCTCAGAGCT GTCCAGCAGCCACGGCCCGGGGTTTTCAAGGCTTAATCGAAGAGATGGAGCTGGTGGCTGGACTCCACTTGTGTCAAATAAATACCAATG GCTGCAAATTGACCTTGGAGAGAGAATGGAGGTCACTGCTGTCGCCACCCAAGGAGGATATGGGAGCTCTGACTGGGTGACCAGCTACCT CCTGATGTTCAGTGATGGTGGGAGAAACTGGAAGCAGTATCGCCGAGAAGAAAGCATCTGGGGGAAAATGGCTTTGTTGGCCTCAAATAG CTGCTTTATTAGATGCAATGAAGCAGGGGACATAGAAGCAAAAAGTAAAACAGCAGGAGAAGAAGAAATGATCAAGATTAGATCCTGTGC TGAAAGAGAAACCAAGAAAAAAGATGACATTCCAGAAGAAGACAAAGGAAATGTAAAACAATGTGAAATCAATTATGTAAAGAAATTTCA GAGCTTCCAAGACCACAAACTTAAAATAAGTAAAGAAGACAGTAAAATTCTTAAAAAGGCTCGGAAAGATGGATTTTTGCATGAGACGCT TCTGGACAGGAGAGCCAAATTGAAAGCCGACAGATACTGCAAGTGACTGGGATTTTTGTTTCTGCCTTATCTTTCTGTGTTTTTTTCTGA ATAAAATATTCAGAGGAAATGCTTTTACAGA >17925_17925_3_CNTNAP3-FRG1_CNTNAP3_chr9_39238990_ENST00000323947_FRG1_chr4_190878553_ENST00000226798_length(amino acids)=249AA_BP=135 MAEVSMASVAWAVLKVLLLLPTQTWSPVGAGNPPDCDAPLASALPRSSFSSSSELSSSHGPGFSRLNRRDGAGGWTPLVSNKYQWLQIDL GERMEVTAVATQGGYGSSDWVTSYLLMFSDGGRNWKQYRREESIWGKMALLASNSCFIRCNEAGDIEAKSKTAGEEEMIKIRSCAERETK KKDDIPEEDKGNVKQCEINYVKKFQSFQDHKLKISKEDSKILKKARKDGFLHETLLDRRAKLKADRYCK -------------------------------------------------------------- >17925_17925_4_CNTNAP3-FRG1_CNTNAP3_chr9_39238990_ENST00000323947_FRG1_chr4_190881903_ENST00000226798_length(transcript)=736nt_BP=421nt CCGGGTCTCAGGGCGCCTGGCTGAAGTGAGCATGGCTTCAGTGGCCTGGGCCGTCCTCAAGGTGCTGCTGCTTCTCCCCACTCAGACTTG GAGCCCCGTGGGAGCAGGAAATCCACCTGACTGTGATGCCCCACTGGCCTCTGCCTTGCCTAGGTCATCCTTCAGCAGCTCCTCAGAGCT GTCCAGCAGCCACGGCCCGGGGTTTTCAAGGCTTAATCGAAGAGATGGAGCTGGTGGCTGGACTCCACTTGTGTCAAATAAATACCAATG GCTGCAAATTGACCTTGGAGAGAGAATGGAGGTCACTGCTGTCGCCACCCAAGGAGGATATGGGAGCTCTGACTGGGTGACCAGCTACCT CCTGATGTTCAGTGATGGTGGGAGAAACTGGAAGCAGTATCGCCGAGAAGAAAGCATCTGGATTAGATCCTGTGCTGAAAGAGAAACCAA GAAAAAAGATGACATTCCAGAAGAAGACAAAGGAAATGTAAAACAATGTGAAATCAATTATGTAAAGAAATTTCAGAGCTTCCAAGACCA CAAACTTAAAATAAGTAAAGAAGACAGTAAAATTCTTAAAAAGGCTCGGAAAGATGGATTTTTGCATGAGACGCTTCTGGACAGGAGAGC CAAATTGAAAGCCGACAGATACTGCAAGTGACTGGGATTTTTGTTTCTGCCTTATCTTTCTGTGTTTTTTTCTGAATAAAATATTCAGAG GAAATGCTTTTACAGA >17925_17925_4_CNTNAP3-FRG1_CNTNAP3_chr9_39238990_ENST00000323947_FRG1_chr4_190881903_ENST00000226798_length(amino acids)=214AA_BP=133 MAEVSMASVAWAVLKVLLLLPTQTWSPVGAGNPPDCDAPLASALPRSSFSSSSELSSSHGPGFSRLNRRDGAGGWTPLVSNKYQWLQIDL GERMEVTAVATQGGYGSSDWVTSYLLMFSDGGRNWKQYRREESIWIRSCAERETKKKDDIPEEDKGNVKQCEINYVKKFQSFQDHKLKIS KEDSKILKKARKDGFLHETLLDRRAKLKADRYCK -------------------------------------------------------------- >17925_17925_5_CNTNAP3-FRG1_CNTNAP3_chr9_39238990_ENST00000358144_FRG1_chr4_190878553_ENST00000226798_length(transcript)=602nt_BP=182nt GGACTCCACTTGTGTCAAATAAATACCAATGGCTGCAAATTGACCTTGGAGAGAGAATGGAGGTCACTGCTGTCGCCACCCAAGGAGGAT ATGGGAGCTCTGACTGGGTGACCAGCTACCTCCTGATGTTCAGTGATGGTGGGAGAAACTGGAAGCAGTATCGCCGAGAAGAAAGCATCT GGGGGAAAATGGCTTTGTTGGCCTCAAATAGCTGCTTTATTAGATGCAATGAAGCAGGGGACATAGAAGCAAAAAGTAAAACAGCAGGAG AAGAAGAAATGATCAAGATTAGATCCTGTGCTGAAAGAGAAACCAAGAAAAAAGATGACATTCCAGAAGAAGACAAAGGAAATGTAAAAC AATGTGAAATCAATTATGTAAAGAAATTTCAGAGCTTCCAAGACCACAAACTTAAAATAAGTAAAGAAGACAGTAAAATTCTTAAAAAGG CTCGGAAAGATGGATTTTTGCATGAGACGCTTCTGGACAGGAGAGCCAAATTGAAAGCCGACAGATACTGCAAGTGACTGGGATTTTTGT TTCTGCCTTATCTTTCTGTGTTTTTTTCTGAATAAAATATTCAGAGGAAATGCTTTTACAGA >17925_17925_5_CNTNAP3-FRG1_CNTNAP3_chr9_39238990_ENST00000358144_FRG1_chr4_190878553_ENST00000226798_length(amino acids)=164AA_BP=50 MQIDLGERMEVTAVATQGGYGSSDWVTSYLLMFSDGGRNWKQYRREESIWGKMALLASNSCFIRCNEAGDIEAKSKTAGEEEMIKIRSCA ERETKKKDDIPEEDKGNVKQCEINYVKKFQSFQDHKLKISKEDSKILKKARKDGFLHETLLDRRAKLKADRYCK -------------------------------------------------------------- >17925_17925_6_CNTNAP3-FRG1_CNTNAP3_chr9_39238990_ENST00000358144_FRG1_chr4_190881903_ENST00000226798_length(transcript)=497nt_BP=182nt GGACTCCACTTGTGTCAAATAAATACCAATGGCTGCAAATTGACCTTGGAGAGAGAATGGAGGTCACTGCTGTCGCCACCCAAGGAGGAT ATGGGAGCTCTGACTGGGTGACCAGCTACCTCCTGATGTTCAGTGATGGTGGGAGAAACTGGAAGCAGTATCGCCGAGAAGAAAGCATCT GGATTAGATCCTGTGCTGAAAGAGAAACCAAGAAAAAAGATGACATTCCAGAAGAAGACAAAGGAAATGTAAAACAATGTGAAATCAATT ATGTAAAGAAATTTCAGAGCTTCCAAGACCACAAACTTAAAATAAGTAAAGAAGACAGTAAAATTCTTAAAAAGGCTCGGAAAGATGGAT TTTTGCATGAGACGCTTCTGGACAGGAGAGCCAAATTGAAAGCCGACAGATACTGCAAGTGACTGGGATTTTTGTTTCTGCCTTATCTTT CTGTGTTTTTTTCTGAATAAAATATTCAGAGGAAATGCTTTTACAGA >17925_17925_6_CNTNAP3-FRG1_CNTNAP3_chr9_39238990_ENST00000358144_FRG1_chr4_190881903_ENST00000226798_length(amino acids)=154AA_BP=1 MNILFRKKHRKIRQKQKSQSLAVSVGFQFGSPVQKRLMQKSIFPSLFKNFTVFFTYFKFVVLEALKFLYIIDFTLFYISFVFFWNVIFFL GFSFSTGSNPDAFFSAILLPVSPTITEHQEVAGHPVRAPISSLGGDSSDLHSLSKVNLQPLVFI -------------------------------------------------------------- >17925_17925_7_CNTNAP3-FRG1_CNTNAP3_chr9_39238990_ENST00000377656_FRG1_chr4_190878553_ENST00000226798_length(transcript)=954nt_BP=534nt GCTGGTGCGTGAGGAAGAGAGCTAGAGACTGGACAGGGGAGGCAGAGCAGCGTCAGAGCCGCGCAGGGGACGGGAGTGAGAGCAGGAGCG ACGCAGAGCGGCCGTCGCCGTGCCCGGGTCTCAGGGCGCCTGGCTGAAGTGAGCATGGCTTCAGTGGCCTGGGCCGTCCTCAAGGTGCTG CTGCTTCTCCCCACTCAGACTTGGAGCCCCGTGGGAGCAGGAAATCCACCTGACTGTGATGCCCCACTGGCCTCTGCCTTGCCTAGGTCA TCCTTCAGCAGCTCCTCAGAGCTGTCCAGCAGCCACGGCCCGGGGTTTTCAAGGCTTAATCGAAGAGATGGAGCTGGTGGCTGGACTCCA CTTGTGTCAAATAAATACCAATGGCTGCAAATTGACCTTGGAGAGAGAATGGAGGTCACTGCTGTCGCCACCCAAGGAGGATATGGGAGC TCTGACTGGGTGACCAGCTACCTCCTGATGTTCAGTGATGGTGGGAGAAACTGGAAGCAGTATCGCCGAGAAGAAAGCATCTGGGGGAAA ATGGCTTTGTTGGCCTCAAATAGCTGCTTTATTAGATGCAATGAAGCAGGGGACATAGAAGCAAAAAGTAAAACAGCAGGAGAAGAAGAA ATGATCAAGATTAGATCCTGTGCTGAAAGAGAAACCAAGAAAAAAGATGACATTCCAGAAGAAGACAAAGGAAATGTAAAACAATGTGAA ATCAATTATGTAAAGAAATTTCAGAGCTTCCAAGACCACAAACTTAAAATAAGTAAAGAAGACAGTAAAATTCTTAAAAAGGCTCGGAAA GATGGATTTTTGCATGAGACGCTTCTGGACAGGAGAGCCAAATTGAAAGCCGACAGATACTGCAAGTGACTGGGATTTTTGTTTCTGCCT TATCTTTCTGTGTTTTTTTCTGAATAAAATATTCAGAGGAAATGCTTTTACAGA >17925_17925_7_CNTNAP3-FRG1_CNTNAP3_chr9_39238990_ENST00000377656_FRG1_chr4_190878553_ENST00000226798_length(amino acids)=249AA_BP=135 MAEVSMASVAWAVLKVLLLLPTQTWSPVGAGNPPDCDAPLASALPRSSFSSSSELSSSHGPGFSRLNRRDGAGGWTPLVSNKYQWLQIDL GERMEVTAVATQGGYGSSDWVTSYLLMFSDGGRNWKQYRREESIWGKMALLASNSCFIRCNEAGDIEAKSKTAGEEEMIKIRSCAERETK KKDDIPEEDKGNVKQCEINYVKKFQSFQDHKLKISKEDSKILKKARKDGFLHETLLDRRAKLKADRYCK -------------------------------------------------------------- >17925_17925_8_CNTNAP3-FRG1_CNTNAP3_chr9_39238990_ENST00000377656_FRG1_chr4_190881903_ENST00000226798_length(transcript)=849nt_BP=534nt GCTGGTGCGTGAGGAAGAGAGCTAGAGACTGGACAGGGGAGGCAGAGCAGCGTCAGAGCCGCGCAGGGGACGGGAGTGAGAGCAGGAGCG ACGCAGAGCGGCCGTCGCCGTGCCCGGGTCTCAGGGCGCCTGGCTGAAGTGAGCATGGCTTCAGTGGCCTGGGCCGTCCTCAAGGTGCTG CTGCTTCTCCCCACTCAGACTTGGAGCCCCGTGGGAGCAGGAAATCCACCTGACTGTGATGCCCCACTGGCCTCTGCCTTGCCTAGGTCA TCCTTCAGCAGCTCCTCAGAGCTGTCCAGCAGCCACGGCCCGGGGTTTTCAAGGCTTAATCGAAGAGATGGAGCTGGTGGCTGGACTCCA CTTGTGTCAAATAAATACCAATGGCTGCAAATTGACCTTGGAGAGAGAATGGAGGTCACTGCTGTCGCCACCCAAGGAGGATATGGGAGC TCTGACTGGGTGACCAGCTACCTCCTGATGTTCAGTGATGGTGGGAGAAACTGGAAGCAGTATCGCCGAGAAGAAAGCATCTGGATTAGA TCCTGTGCTGAAAGAGAAACCAAGAAAAAAGATGACATTCCAGAAGAAGACAAAGGAAATGTAAAACAATGTGAAATCAATTATGTAAAG AAATTTCAGAGCTTCCAAGACCACAAACTTAAAATAAGTAAAGAAGACAGTAAAATTCTTAAAAAGGCTCGGAAAGATGGATTTTTGCAT GAGACGCTTCTGGACAGGAGAGCCAAATTGAAAGCCGACAGATACTGCAAGTGACTGGGATTTTTGTTTCTGCCTTATCTTTCTGTGTTT TTTTCTGAATAAAATATTCAGAGGAAATGCTTTTACAGA >17925_17925_8_CNTNAP3-FRG1_CNTNAP3_chr9_39238990_ENST00000377656_FRG1_chr4_190881903_ENST00000226798_length(amino acids)=214AA_BP=133 MAEVSMASVAWAVLKVLLLLPTQTWSPVGAGNPPDCDAPLASALPRSSFSSSSELSSSHGPGFSRLNRRDGAGGWTPLVSNKYQWLQIDL GERMEVTAVATQGGYGSSDWVTSYLLMFSDGGRNWKQYRREESIWIRSCAERETKKKDDIPEEDKGNVKQCEINYVKKFQSFQDHKLKIS KEDSKILKKARKDGFLHETLLDRRAKLKADRYCK -------------------------------------------------------------- >17925_17925_9_CNTNAP3-FRG1_CNTNAP3_chr9_39238990_ENST00000377659_FRG1_chr4_190878553_ENST00000226798_length(transcript)=1049nt_BP=629nt AGAAAGCTGCGGCGCGAGTCCGCGGGGCCGACCTCGGAGACGCAGCTGGGGCCGGGCGCGGCTTGGCGGGAGGGTCTGCAGCGCCGAGGG AGGCTGCTGGTGCGTGAGGAAGAGAGCTAGAGACTGGACAGGGGAGGCAGAGCAGCGTCAGAGCCGCGCAGGGGACGGGAGTGAGAGCAG GAGCGACGCAGAGCGGCCGTCGCCGTGCCCGGGTCTCAGGGCGCCTGGCTGAAGTGAGCATGGCTTCAGTGGCCTGGGCCGTCCTCAAGG TGCTGCTGCTTCTCCCCACTCAGACTTGGAGCCCCGTGGGAGCAGGAAATCCACCTGACTGTGATGCCCCACTGGCCTCTGCCTTGCCTA GGTCATCCTTCAGCAGCTCCTCAGAGCTGTCCAGCAGCCACGGCCCGGGGTTTTCAAGGCTTAATCGAAGAGATGGAGCTGGTGGCTGGA CTCCACTTGTGTCAAATAAATACCAATGGCTGCAAATTGACCTTGGAGAGAGAATGGAGGTCACTGCTGTCGCCACCCAAGGAGGATATG GGAGCTCTGACTGGGTGACCAGCTACCTCCTGATGTTCAGTGATGGTGGGAGAAACTGGAAGCAGTATCGCCGAGAAGAAAGCATCTGGG GGAAAATGGCTTTGTTGGCCTCAAATAGCTGCTTTATTAGATGCAATGAAGCAGGGGACATAGAAGCAAAAAGTAAAACAGCAGGAGAAG AAGAAATGATCAAGATTAGATCCTGTGCTGAAAGAGAAACCAAGAAAAAAGATGACATTCCAGAAGAAGACAAAGGAAATGTAAAACAAT GTGAAATCAATTATGTAAAGAAATTTCAGAGCTTCCAAGACCACAAACTTAAAATAAGTAAAGAAGACAGTAAAATTCTTAAAAAGGCTC GGAAAGATGGATTTTTGCATGAGACGCTTCTGGACAGGAGAGCCAAATTGAAAGCCGACAGATACTGCAAGTGACTGGGATTTTTGTTTC TGCCTTATCTTTCTGTGTTTTTTTCTGAATAAAATATTCAGAGGAAATGCTTTTACAGA >17925_17925_9_CNTNAP3-FRG1_CNTNAP3_chr9_39238990_ENST00000377659_FRG1_chr4_190878553_ENST00000226798_length(amino acids)=249AA_BP=135 MAEVSMASVAWAVLKVLLLLPTQTWSPVGAGNPPDCDAPLASALPRSSFSSSSELSSSHGPGFSRLNRRDGAGGWTPLVSNKYQWLQIDL GERMEVTAVATQGGYGSSDWVTSYLLMFSDGGRNWKQYRREESIWGKMALLASNSCFIRCNEAGDIEAKSKTAGEEEMIKIRSCAERETK KKDDIPEEDKGNVKQCEINYVKKFQSFQDHKLKISKEDSKILKKARKDGFLHETLLDRRAKLKADRYCK -------------------------------------------------------------- >17925_17925_10_CNTNAP3-FRG1_CNTNAP3_chr9_39238990_ENST00000377659_FRG1_chr4_190881903_ENST00000226798_length(transcript)=944nt_BP=629nt AGAAAGCTGCGGCGCGAGTCCGCGGGGCCGACCTCGGAGACGCAGCTGGGGCCGGGCGCGGCTTGGCGGGAGGGTCTGCAGCGCCGAGGG AGGCTGCTGGTGCGTGAGGAAGAGAGCTAGAGACTGGACAGGGGAGGCAGAGCAGCGTCAGAGCCGCGCAGGGGACGGGAGTGAGAGCAG GAGCGACGCAGAGCGGCCGTCGCCGTGCCCGGGTCTCAGGGCGCCTGGCTGAAGTGAGCATGGCTTCAGTGGCCTGGGCCGTCCTCAAGG TGCTGCTGCTTCTCCCCACTCAGACTTGGAGCCCCGTGGGAGCAGGAAATCCACCTGACTGTGATGCCCCACTGGCCTCTGCCTTGCCTA GGTCATCCTTCAGCAGCTCCTCAGAGCTGTCCAGCAGCCACGGCCCGGGGTTTTCAAGGCTTAATCGAAGAGATGGAGCTGGTGGCTGGA CTCCACTTGTGTCAAATAAATACCAATGGCTGCAAATTGACCTTGGAGAGAGAATGGAGGTCACTGCTGTCGCCACCCAAGGAGGATATG GGAGCTCTGACTGGGTGACCAGCTACCTCCTGATGTTCAGTGATGGTGGGAGAAACTGGAAGCAGTATCGCCGAGAAGAAAGCATCTGGA TTAGATCCTGTGCTGAAAGAGAAACCAAGAAAAAAGATGACATTCCAGAAGAAGACAAAGGAAATGTAAAACAATGTGAAATCAATTATG TAAAGAAATTTCAGAGCTTCCAAGACCACAAACTTAAAATAAGTAAAGAAGACAGTAAAATTCTTAAAAAGGCTCGGAAAGATGGATTTT TGCATGAGACGCTTCTGGACAGGAGAGCCAAATTGAAAGCCGACAGATACTGCAAGTGACTGGGATTTTTGTTTCTGCCTTATCTTTCTG TGTTTTTTTCTGAATAAAATATTCAGAGGAAATGCTTTTACAGA >17925_17925_10_CNTNAP3-FRG1_CNTNAP3_chr9_39238990_ENST00000377659_FRG1_chr4_190881903_ENST00000226798_length(amino acids)=214AA_BP=133 MAEVSMASVAWAVLKVLLLLPTQTWSPVGAGNPPDCDAPLASALPRSSFSSSSELSSSHGPGFSRLNRRDGAGGWTPLVSNKYQWLQIDL GERMEVTAVATQGGYGSSDWVTSYLLMFSDGGRNWKQYRREESIWIRSCAERETKKKDDIPEEDKGNVKQCEINYVKKFQSFQDHKLKIS KEDSKILKKARKDGFLHETLLDRRAKLKADRYCK -------------------------------------------------------------- |
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Fusion Gene PPI Analysis for CNTNAP3-FRG1 |
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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 CNTNAP3-FRG1 |
![]() (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 CNTNAP3-FRG1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | C0238288 | Muscular Dystrophy, Facioscapulohumeral | 3 | ORPHANET |