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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:RAB2A-CHD7 (FusionGDB2 ID:71278) |
Fusion Gene Summary for RAB2A-CHD7 |
Fusion gene summary |
Fusion gene information | Fusion gene name: RAB2A-CHD7 | Fusion gene ID: 71278 | Hgene | Tgene | Gene symbol | RAB2A | CHD7 | Gene ID | 5862 | 55636 |
Gene name | RAB2A, member RAS oncogene family | chromodomain helicase DNA binding protein 7 | |
Synonyms | LHX|RAB2 | CRG|HH5|IS3|KAL5 | |
Cytomap | 8q12.1-q12.2 | 8q12.2 | |
Type of gene | protein-coding | protein-coding | |
Description | ras-related protein Rab-2ARAB2, member RAS oncogene familysmall GTP binding protein RAB2A | chromodomain-helicase-DNA-binding protein 7ATP-dependent helicase CHD7CHARGE associationchromodomain helicase DNA binding protein 7 isoform CRA_e | |
Modification date | 20200327 | 20200328 | |
UniProtAcc | . | Q9P2D1 | |
Ensembl transtripts involved in fusion gene | ENST00000262646, ENST00000529579, ENST00000531289, ENST00000530071, | ENST00000529472, ENST00000423902, ENST00000524602, ENST00000525508, | |
Fusion gene scores | * DoF score | 13 X 9 X 8=936 | 9 X 5 X 6=270 |
# samples | 13 | 9 | |
** MAII score | log2(13/936*10)=-2.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(9/270*10)=-1.58496250072116 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: RAB2A [Title/Abstract] AND CHD7 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | CHD7(61591641)-RAB2A(61471411), # samples:4 RAB2A(61484672)-CHD7(61693559), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. |
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Partner | Gene | GO ID | GO term | PubMed ID |
Fusion gene breakpoints across RAB2A (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
Fusion gene breakpoints across CHD7 (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0) * All genome coordinats were lifted-over on hg19. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChimerDB4 | BRCA | TCGA-AC-A6IW-01A | RAB2A | chr8 | 61484672 | + | CHD7 | chr8 | 61693559 | + |
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Fusion Gene ORF analysis for RAB2A-CHD7 |
Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
5CDS-intron | ENST00000262646 | ENST00000529472 | RAB2A | chr8 | 61484672 | + | CHD7 | chr8 | 61693559 | + |
5CDS-intron | ENST00000529579 | ENST00000529472 | RAB2A | chr8 | 61484672 | + | CHD7 | chr8 | 61693559 | + |
5CDS-intron | ENST00000531289 | ENST00000529472 | RAB2A | chr8 | 61484672 | + | CHD7 | chr8 | 61693559 | + |
In-frame | ENST00000262646 | ENST00000423902 | RAB2A | chr8 | 61484672 | + | CHD7 | chr8 | 61693559 | + |
In-frame | ENST00000262646 | ENST00000524602 | RAB2A | chr8 | 61484672 | + | CHD7 | chr8 | 61693559 | + |
In-frame | ENST00000262646 | ENST00000525508 | RAB2A | chr8 | 61484672 | + | CHD7 | chr8 | 61693559 | + |
In-frame | ENST00000529579 | ENST00000423902 | RAB2A | chr8 | 61484672 | + | CHD7 | chr8 | 61693559 | + |
In-frame | ENST00000529579 | ENST00000524602 | RAB2A | chr8 | 61484672 | + | CHD7 | chr8 | 61693559 | + |
In-frame | ENST00000529579 | ENST00000525508 | RAB2A | chr8 | 61484672 | + | CHD7 | chr8 | 61693559 | + |
In-frame | ENST00000531289 | ENST00000423902 | RAB2A | chr8 | 61484672 | + | CHD7 | chr8 | 61693559 | + |
In-frame | ENST00000531289 | ENST00000524602 | RAB2A | chr8 | 61484672 | + | CHD7 | chr8 | 61693559 | + |
In-frame | ENST00000531289 | ENST00000525508 | RAB2A | chr8 | 61484672 | + | CHD7 | chr8 | 61693559 | + |
intron-3CDS | ENST00000530071 | ENST00000423902 | RAB2A | chr8 | 61484672 | + | CHD7 | chr8 | 61693559 | + |
intron-3CDS | ENST00000530071 | ENST00000524602 | RAB2A | chr8 | 61484672 | + | CHD7 | chr8 | 61693559 | + |
intron-3CDS | ENST00000530071 | ENST00000525508 | RAB2A | chr8 | 61484672 | + | CHD7 | chr8 | 61693559 | + |
intron-intron | ENST00000530071 | ENST00000529472 | RAB2A | chr8 | 61484672 | + | CHD7 | chr8 | 61693559 | + |
ORFfinder result based on the fusion transcript sequence of in-frame fusion genes. |
Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
ENST00000262646 | RAB2A | chr8 | 61484672 | + | ENST00000423902 | CHD7 | chr8 | 61693559 | + | 8839 | 537 | 351 | 7865 | 2504 |
ENST00000262646 | RAB2A | chr8 | 61484672 | + | ENST00000524602 | CHD7 | chr8 | 61693559 | + | 2260 | 537 | 351 | 1718 | 455 |
ENST00000262646 | RAB2A | chr8 | 61484672 | + | ENST00000525508 | CHD7 | chr8 | 61693559 | + | 3649 | 537 | 351 | 2288 | 645 |
ENST00000531289 | RAB2A | chr8 | 61484672 | + | ENST00000423902 | CHD7 | chr8 | 61693559 | + | 8688 | 386 | 272 | 7714 | 2480 |
ENST00000531289 | RAB2A | chr8 | 61484672 | + | ENST00000524602 | CHD7 | chr8 | 61693559 | + | 2109 | 386 | 272 | 1567 | 431 |
ENST00000531289 | RAB2A | chr8 | 61484672 | + | ENST00000525508 | CHD7 | chr8 | 61693559 | + | 3498 | 386 | 272 | 2137 | 621 |
ENST00000529579 | RAB2A | chr8 | 61484672 | + | ENST00000423902 | CHD7 | chr8 | 61693559 | + | 8515 | 213 | 27 | 7541 | 2504 |
ENST00000529579 | RAB2A | chr8 | 61484672 | + | ENST00000524602 | CHD7 | chr8 | 61693559 | + | 1936 | 213 | 27 | 1394 | 455 |
ENST00000529579 | RAB2A | chr8 | 61484672 | + | ENST00000525508 | CHD7 | chr8 | 61693559 | + | 3325 | 213 | 27 | 1964 | 645 |
DeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated. |
Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
ENST00000262646 | ENST00000423902 | RAB2A | chr8 | 61484672 | + | CHD7 | chr8 | 61693559 | + | 0.000754949 | 0.99924505 |
ENST00000262646 | ENST00000524602 | RAB2A | chr8 | 61484672 | + | CHD7 | chr8 | 61693559 | + | 0.00123927 | 0.9987607 |
ENST00000262646 | ENST00000525508 | RAB2A | chr8 | 61484672 | + | CHD7 | chr8 | 61693559 | + | 0.000618703 | 0.9993813 |
ENST00000531289 | ENST00000423902 | RAB2A | chr8 | 61484672 | + | CHD7 | chr8 | 61693559 | + | 0.000695717 | 0.9993043 |
ENST00000531289 | ENST00000524602 | RAB2A | chr8 | 61484672 | + | CHD7 | chr8 | 61693559 | + | 0.001350873 | 0.9986492 |
ENST00000531289 | ENST00000525508 | RAB2A | chr8 | 61484672 | + | CHD7 | chr8 | 61693559 | + | 0.00060911 | 0.99939084 |
ENST00000529579 | ENST00000423902 | RAB2A | chr8 | 61484672 | + | CHD7 | chr8 | 61693559 | + | 0.000493781 | 0.99950624 |
ENST00000529579 | ENST00000524602 | RAB2A | chr8 | 61484672 | + | CHD7 | chr8 | 61693559 | + | 0.000821027 | 0.99917895 |
ENST00000529579 | ENST00000525508 | RAB2A | chr8 | 61484672 | + | CHD7 | chr8 | 61693559 | + | 0.000499052 | 0.999501 |
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Fusion Genomic Features for RAB2A-CHD7 |
FusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints. |
Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
RAB2A | chr8 | 61484672 | + | CHD7 | chr8 | 61693558 | + | 8.62E-07 | 0.99999917 |
RAB2A | chr8 | 61484672 | + | CHD7 | chr8 | 61693558 | + | 8.62E-07 | 0.99999917 |
Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page. |
Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page. |
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Fusion Protein Features for RAB2A-CHD7 |
Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr8:61591641/chr8:61471411) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
. | CHD7 |
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: Probable transcription regulator. Maybe involved in the in 45S precursor rRNA production. {ECO:0000269|PubMed:22646239}. |
Retention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at * Minus value of BPloci means that the break pointn is located before the CDS. |
- In-frame and retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
Hgene | RAB2A | chr8:61484672 | chr8:61693559 | ENST00000262646 | + | 3 | 8 | 35_43 | 62 | 213.0 | Motif | Effector region |
Hgene | RAB2A | chr8:61484672 | chr8:61693559 | ENST00000262646 | + | 3 | 8 | 13_21 | 62 | 213.0 | Nucleotide binding | GTP |
Hgene | RAB2A | chr8:61484672 | chr8:61693559 | ENST00000262646 | + | 3 | 8 | 61_65 | 62 | 213.0 | Nucleotide binding | GTP |
Hgene | RAB2A | chr8:61484672 | chr8:61693559 | ENST00000531289 | + | 2 | 7 | 13_21 | 38 | 189.0 | Nucleotide binding | GTP |
Tgene | CHD7 | chr8:61484672 | chr8:61693559 | ENST00000423902 | 1 | 38 | 2401_2431 | 555 | 2998.0 | Coiled coil | Ontology_term=ECO:0000255 | |
Tgene | CHD7 | chr8:61484672 | chr8:61693559 | ENST00000524602 | 0 | 5 | 2401_2431 | 555 | 949.0 | Coiled coil | Ontology_term=ECO:0000255 | |
Tgene | CHD7 | chr8:61484672 | chr8:61693559 | ENST00000525508 | 0 | 12 | 2401_2431 | 555 | 1139.0 | Coiled coil | Ontology_term=ECO:0000255 | |
Tgene | CHD7 | chr8:61484672 | chr8:61693559 | ENST00000423902 | 1 | 38 | 1939_1945 | 555 | 2998.0 | Compositional bias | Note=Poly-Arg | |
Tgene | CHD7 | chr8:61484672 | chr8:61693559 | ENST00000423902 | 1 | 38 | 2165_2258 | 555 | 2998.0 | Compositional bias | Note=Glu-rich | |
Tgene | CHD7 | chr8:61484672 | chr8:61693559 | ENST00000423902 | 1 | 38 | 2398_2405 | 555 | 2998.0 | Compositional bias | Note=Poly-Arg | |
Tgene | CHD7 | chr8:61484672 | chr8:61693559 | ENST00000423902 | 1 | 38 | 2726_2736 | 555 | 2998.0 | Compositional bias | Note=Poly-Ala | |
Tgene | CHD7 | chr8:61484672 | chr8:61693559 | ENST00000423902 | 1 | 38 | 597_718 | 555 | 2998.0 | Compositional bias | Note=Lys-rich | |
Tgene | CHD7 | chr8:61484672 | chr8:61693559 | ENST00000524602 | 0 | 5 | 1939_1945 | 555 | 949.0 | Compositional bias | Note=Poly-Arg | |
Tgene | CHD7 | chr8:61484672 | chr8:61693559 | ENST00000524602 | 0 | 5 | 2165_2258 | 555 | 949.0 | Compositional bias | Note=Glu-rich | |
Tgene | CHD7 | chr8:61484672 | chr8:61693559 | ENST00000524602 | 0 | 5 | 2398_2405 | 555 | 949.0 | Compositional bias | Note=Poly-Arg | |
Tgene | CHD7 | chr8:61484672 | chr8:61693559 | ENST00000524602 | 0 | 5 | 2726_2736 | 555 | 949.0 | Compositional bias | Note=Poly-Ala | |
Tgene | CHD7 | chr8:61484672 | chr8:61693559 | ENST00000524602 | 0 | 5 | 597_718 | 555 | 949.0 | Compositional bias | Note=Lys-rich | |
Tgene | CHD7 | chr8:61484672 | chr8:61693559 | ENST00000525508 | 0 | 12 | 1939_1945 | 555 | 1139.0 | Compositional bias | Note=Poly-Arg | |
Tgene | CHD7 | chr8:61484672 | chr8:61693559 | ENST00000525508 | 0 | 12 | 2165_2258 | 555 | 1139.0 | Compositional bias | Note=Glu-rich | |
Tgene | CHD7 | chr8:61484672 | chr8:61693559 | ENST00000525508 | 0 | 12 | 2398_2405 | 555 | 1139.0 | Compositional bias | Note=Poly-Arg | |
Tgene | CHD7 | chr8:61484672 | chr8:61693559 | ENST00000525508 | 0 | 12 | 2726_2736 | 555 | 1139.0 | Compositional bias | Note=Poly-Ala | |
Tgene | CHD7 | chr8:61484672 | chr8:61693559 | ENST00000525508 | 0 | 12 | 597_718 | 555 | 1139.0 | Compositional bias | Note=Lys-rich | |
Tgene | CHD7 | chr8:61484672 | chr8:61693559 | ENST00000423902 | 1 | 38 | 1294_1464 | 555 | 2998.0 | Domain | Helicase C-terminal | |
Tgene | CHD7 | chr8:61484672 | chr8:61693559 | ENST00000423902 | 1 | 38 | 800_867 | 555 | 2998.0 | Domain | Chromo 1 | |
Tgene | CHD7 | chr8:61484672 | chr8:61693559 | ENST00000423902 | 1 | 38 | 882_947 | 555 | 2998.0 | Domain | Chromo 2 | |
Tgene | CHD7 | chr8:61484672 | chr8:61693559 | ENST00000423902 | 1 | 38 | 980_1154 | 555 | 2998.0 | Domain | Helicase ATP-binding | |
Tgene | CHD7 | chr8:61484672 | chr8:61693559 | ENST00000524602 | 0 | 5 | 1294_1464 | 555 | 949.0 | Domain | Helicase C-terminal | |
Tgene | CHD7 | chr8:61484672 | chr8:61693559 | ENST00000524602 | 0 | 5 | 800_867 | 555 | 949.0 | Domain | Chromo 1 | |
Tgene | CHD7 | chr8:61484672 | chr8:61693559 | ENST00000524602 | 0 | 5 | 882_947 | 555 | 949.0 | Domain | Chromo 2 | |
Tgene | CHD7 | chr8:61484672 | chr8:61693559 | ENST00000524602 | 0 | 5 | 980_1154 | 555 | 949.0 | Domain | Helicase ATP-binding | |
Tgene | CHD7 | chr8:61484672 | chr8:61693559 | ENST00000525508 | 0 | 12 | 1294_1464 | 555 | 1139.0 | Domain | Helicase C-terminal | |
Tgene | CHD7 | chr8:61484672 | chr8:61693559 | ENST00000525508 | 0 | 12 | 800_867 | 555 | 1139.0 | Domain | Chromo 1 | |
Tgene | CHD7 | chr8:61484672 | chr8:61693559 | ENST00000525508 | 0 | 12 | 882_947 | 555 | 1139.0 | Domain | Chromo 2 | |
Tgene | CHD7 | chr8:61484672 | chr8:61693559 | ENST00000525508 | 0 | 12 | 980_1154 | 555 | 1139.0 | Domain | Helicase ATP-binding | |
Tgene | CHD7 | chr8:61484672 | chr8:61693559 | ENST00000423902 | 1 | 38 | 1105_1108 | 555 | 2998.0 | Motif | Note=DEAH box | |
Tgene | CHD7 | chr8:61484672 | chr8:61693559 | ENST00000524602 | 0 | 5 | 1105_1108 | 555 | 949.0 | Motif | Note=DEAH box | |
Tgene | CHD7 | chr8:61484672 | chr8:61693559 | ENST00000525508 | 0 | 12 | 1105_1108 | 555 | 1139.0 | Motif | Note=DEAH box | |
Tgene | CHD7 | chr8:61484672 | chr8:61693559 | ENST00000423902 | 1 | 38 | 993_1000 | 555 | 2998.0 | Nucleotide binding | ATP | |
Tgene | CHD7 | chr8:61484672 | chr8:61693559 | ENST00000524602 | 0 | 5 | 993_1000 | 555 | 949.0 | Nucleotide binding | ATP | |
Tgene | CHD7 | chr8:61484672 | chr8:61693559 | ENST00000525508 | 0 | 12 | 993_1000 | 555 | 1139.0 | Nucleotide binding | ATP |
- 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 | RAB2A | chr8:61484672 | chr8:61693559 | ENST00000531289 | + | 2 | 7 | 35_43 | 38 | 189.0 | Motif | Effector region |
Hgene | RAB2A | chr8:61484672 | chr8:61693559 | ENST00000262646 | + | 3 | 8 | 119_122 | 62 | 213.0 | Nucleotide binding | GTP |
Hgene | RAB2A | chr8:61484672 | chr8:61693559 | ENST00000262646 | + | 3 | 8 | 149_151 | 62 | 213.0 | Nucleotide binding | GTP |
Hgene | RAB2A | chr8:61484672 | chr8:61693559 | ENST00000531289 | + | 2 | 7 | 119_122 | 38 | 189.0 | Nucleotide binding | GTP |
Hgene | RAB2A | chr8:61484672 | chr8:61693559 | ENST00000531289 | + | 2 | 7 | 149_151 | 38 | 189.0 | Nucleotide binding | GTP |
Hgene | RAB2A | chr8:61484672 | chr8:61693559 | ENST00000531289 | + | 2 | 7 | 61_65 | 38 | 189.0 | Nucleotide binding | GTP |
Tgene | CHD7 | chr8:61484672 | chr8:61693559 | ENST00000423902 | 1 | 38 | 151_222 | 555 | 2998.0 | Compositional bias | Note=Gln-rich | |
Tgene | CHD7 | chr8:61484672 | chr8:61693559 | ENST00000423902 | 1 | 38 | 383_568 | 555 | 2998.0 | Compositional bias | Note=Pro-rich | |
Tgene | CHD7 | chr8:61484672 | chr8:61693559 | ENST00000524602 | 0 | 5 | 151_222 | 555 | 949.0 | Compositional bias | Note=Gln-rich | |
Tgene | CHD7 | chr8:61484672 | chr8:61693559 | ENST00000524602 | 0 | 5 | 383_568 | 555 | 949.0 | Compositional bias | Note=Pro-rich | |
Tgene | CHD7 | chr8:61484672 | chr8:61693559 | ENST00000525508 | 0 | 12 | 151_222 | 555 | 1139.0 | Compositional bias | Note=Gln-rich | |
Tgene | CHD7 | chr8:61484672 | chr8:61693559 | ENST00000525508 | 0 | 12 | 383_568 | 555 | 1139.0 | Compositional bias | Note=Pro-rich |
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Fusion Gene Sequence for RAB2A-CHD7 |
For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
>71278_71278_1_RAB2A-CHD7_RAB2A_chr8_61484672_ENST00000262646_CHD7_chr8_61693559_ENST00000423902_length(transcript)=8839nt_BP=537nt TGGCGGGGCGCGGCCAGCGTGCAGGGCTGGGCCAGCGTGCGGGGCTCCTCCCCTTTCCTCCGGCGGCGCCGGCGGCCGCAGAACTTCCGG GTCGGCGCGGAGGCGGGGCGGAGGCGCCGCGGCGGCTGTTATTGTTCGGCTGGGCTCGGTCGGGCGCTGTCTCCCTCGGCTCTGCGGGTG TCAGTTCGTCCGGCTTCCTCACAGCCCCTCACTCCCGGCGGCTGACAGCAGCAGCGGCGGCGGCGGGCGGCGCCTGGCGTTTCGAGGCTG AGCGGCACCGGGGTTGGGGCGCGGAGGAGGAGCAGCAGCGGGAGGAGGAGCCGTGTGCCCTGGCACTGAGCGGCCGCGGCCATGGCGTAC GCCTATCTCTTCAAGTACATCATAATCGGCGACACAGGTGTTGGTAAATCATGCTTATTGCTACAGTTTACAGACAAGAGGTTTCAGCCA GTGCATGACCTTACTATTGGTGTAGAGTTCGGTGCTCGAATGATAACTATTGATGGGAAACAGATAAAACTTCAGATATGGGATACGCAT TCCCCGTCGGAGCCCTTTCTAGAGAAACCAGTGCCGGATATGACTCAGGTTAGTGGACCGAATGCTCAGCTAGTGAAGAGTGATGATTAC CTGCCATCAATAGAACAGCAGCCACAACAAAAGAAGAAGAAAAAGAAAAACAACCACATTGTAGCAGAGGATCCCAGTAAAGGTTTTGGT AAAGATGACTTCCCTGGTGGGGTAGATAACCAAGAACTAAATAGGAACTCACTGGATGGGTCCCAAGAAGAAAAAAAGAAAAAGAAAAGG TCAAAGGCAAAAAAAGACCCGAAGGAACCGAAAGAACCCAAGGAGAAAAAAGAGCCCAAGGAACCCAAGACCCCGAAAGCCCCTAAGATT CCCAAAGAGCCAAAGGAAAAGAAAGCAAAAACTGCCACGCCAAAACCCAAATCCAGCAAAAAGTCAAGTAATAAGAAACCTGACTCAGAA GCAAGTGCTTTGAAGAAAAAGGTCAACAAGGGAAAAACAGAAGGTTCTGAAAATTCAGACTTAGACAAAACACCCCCACCATCTCCTCCT CCTGAAGAAGATGAGGACCCAGGTGTTCAGAAGAGACGGTCCAGCAGACAGGTGAAGAGAAAGCGCTACACTGAAGACCTGGAGTTCAAG ATTTCTGATGAGGAGGCAGATGATGCAGATGCTGCTGGGAGGGATTCCCCCTCCAACACCTCCCAGTCAGAACAGCAGGAATCTGTTGAT GCAGAAGGCCCAGTGGTAGAAAAAATTATGAGCAGTCGTTCAGTAAAAAAGCAGAAGGAATCTGGAGAGGAGGTAGAAATTGAGGAATTC TATGTGAAATACAAAAACTTCTCTTATCTTCATTGTCAGTGGGCATCTATAGAAGATCTGGAAAAAGATAAGAGAATTCAGCAAAAAATT AAACGATTTAAGGCAAAGCAGGGCCAGAACAAGTTCCTTTCAGAGATTGAGGATGAGCTTTTTAATCCAGATTATGTGGAGGTTGACCGG ATAATGGACTTTGCACGTAGCACAGATGACCGGGGAGAGCCTGTGACTCACTATCTGGTGAAGTGGTGTTCACTTCCTTATGAAGACAGC ACGTGGGAGCGGAGGCAGGACATAGATCAAGCAAAGATCGAGGAGTTTGAGAAACTAATGTCCAGGGAGCCGGAAACAGAGCGTGTGGAG CGACCTCCTGCTGATGATTGGAAGAAATCGGAGAGTTCCAGGGAGTATAAAAACAATAACAAACTCAGGGAATACCAGTTGGAGGGAGTA AACTGGCTACTTTTCAATTGGTACAACATGCGAAACTGCATTTTAGCAGATGAAATGGGTTTGGGAAAAACTATCCAGTCCATTACATTT CTCTATGAGATATATTTGAAAGGAATCCATGGCCCTTTTTTAGTAATTGCCCCATTGTCCACAATCCCCAACTGGGAAAGGGAATTCCGA ACCTGGACAGAGTTGAACGTGGTTGTGTATCATGGGAGTCAAGCTAGTCGTCGGACCATTCAGTTGTATGAAATGTACTTCAAAGATCCC CAGGGTCGAGTGATAAAGGGGTCCTATAAGTTTCATGCCATCATCACTACATTTGAGATGATTTTGACTGATTGTCCTGAGCTGCGGAAT ATTCCATGGCGCTGTGTAGTCATTGATGAAGCCCACAGGCTGAAGAACAGGAACTGCAAGCTGTTGGAGGGACTCAAGATGATGGACTTG GAACACAAAGTGCTGCTGACGGGAACCCCACTCCAGAACACTGTGGAAGAACTCTTCAGCTTGCTTCATTTCTTGGAACCAAGTCGCTTC CCTTCAGAAACCACATTTATGCAAGAATTTGGTGATCTAAAAACAGAAGAGCAGGTGCAAAAACTTCAAGCTATTCTAAAGCCAATGATG TTGAGACGTCTCAAAGAGGATGTAGAAAAGAACTTGGCCCCCAAAGAAGAAACTATTATTGAAGTTGAGCTAACAAACATTCAGAAGAAA TATTACCGAGCCATCCTTGAGAAGAATTTCACATTTCTTTCCAAAGGCGGTGGTCAAGCTAACGTACCTAACCTATTAAACACTATGATG GAATTGCGGAAGTGCTGCAATCATCCGTACCTTATCAATGGTGCTGAAGAGAAAATTTTGGAAGAGTTTAAAGAAACACACAATGCAGAG TCTCCAGATTTTCAGCTCCAGGCAATGATCCAGGCTGCTGGCAAGCTAGTGCTGATTGACAAGCTGCTGCCAAAACTGAAGGCTGGTGGC CACAGGGTGCTTATCTTTTCCCAGATGGTGCGCTGCTTGGACATACTGGAAGACTACCTCATTCAAAGACGGTACCCATATGAAAGGATC GACGGCCGAGTAAGAGGCAACCTCCGCCAGGCAGCTATCGACAGATTCTCCAAACCTGATTCTGATAGGTTTGTTTTCCTCCTGTGTACA AGGGCAGGAGGTTTAGGCATTAACCTCACTGCTGCTGATACCTGCATCATCTTTGATTCAGACTGGAATCCCCAAAATGACCTCCAGGCT CAGGCTAGATGTCATAGAATAGGACAGAGCAAATCTGTGAAAATCTACAGGCTGATTACAAGAAATTCCTATGAAAGGGAAATGTTCGAC AAGGCTAGTTTGAAACTGGGCCTGGATAAAGCTGTGCTACAGTCTATGAGTGGAAGAGAAAATGCTACCAATGGGGTACAACAGCTTTCC AAGAAAGAAATAGAGGATCTTCTACGAAAAGGGGCCTATGGTGCACTCATGGATGAGGAGGATGAAGGGTCTAAATTCTGTGAAGAAGAT ATTGATCAGATCCTCCTACGTCGAACCCACACCATTACCATTGAGTCAGAAGGGAAAGGTTCCACATTTGCTAAGGCCAGTTTTGTTGCA TCTGGAAATAGGACAGATATTTCCTTGGATGATCCAAATTTCTGGCAAAAGTGGGCTAAGAAGGCTGAATTGGATATTGATGCCTTAAAT GGGAGGAACAACCTGGTTATTGATACTCCAAGAGTGAGAAAGCAGACCAGGCTCTACAGTGCAGTGAAGGAAGATGAGCTGATGGAGTTC TCAGACTTGGAAAGTGATTCTGAAGAAAAGCCCTGTGCAAAGCCACGGCGTCCCCAGGATAAGTCACAGGGCTATGCAAGGAGTGAATGT TTCAGGGTGGAGAAGAATCTGCTTGTCTATGGTTGGGGACGGTGGACAGACATTCTTTCCCACGGACGCTATAAACGCCAACTCACTGAG CAAGATGTAGAAACCATCTGCAGAACCATCCTGGTGTACTGTCTTAATCATTACAAAGGGGATGAGAATATCAAAAGCTTCATCTGGGAT CTGATCACACCCACAGCGGATGGCCAGACTCGAGCCTTGGTCAACCATTCCGGTTTGTCAGCTCCTGTGCCAAGGGGAAGGAAGGGAAAG AAGGTGAAAGCCCAGAGCACACAGCCGGTGGTGCAGGATGCCGACTGGCTGGCCAGCTGCAACCCAGATGCCCTGTTCCAGGAGGACAGC TACAAGAAACACCTGAAGCATCACTGTAACAAGGTCCTGCTGCGTGTCCGCATGCTGTACTACCTAAGACAAGAAGTGATAGGAGACCAG GCGGATAAGATCTTAGAGGGTGCTGACTCAAGTGAAGCCGATGTGTGGATCCCTGAACCTTTCCATGCTGAAGTTCCTGCAGATTGGTGG GATAAGGAAGCAGACAAATCCCTCTTAATTGGAGTGTTCAAACATGGCTATGAGAAGTACAACTCCATGCGAGCTGACCCCGCGCTGTGC TTTCTGGAACGAGTCGGTATGCCTGATGCCAAGGCCATAGCTGCCGAGCAAAGAGGAACAGACATGCTAGCAGATGGTGGTGACGGGGGA GAATTTGATAGAGAAGATGAAGACCCAGAATATAAACCAACCAGAACACCGTTCAAAGATGAAATAGATGAATTTGCAAATTCTCCTTCA GAGGATAAGGAAGAATCCATGGAAATACATGCCACAGGCAAGCACAGTGAGAGTAATGCTGAGTTAGGCCAACTTTACTGGCCTAACACT TCAACCCTGACTACACGTCTGCGCCGGCTCATTACTGCCTATCAGCGCAGCTATAAAAGGCAACAGATGAGGCAAGAGGCCCTAATGAAG ACTGACCGGCGCAGACGGCGGCCTCGAGAGGAAGTGAGAGCTCTGGAAGCGGAAAGGGAAGCTATTATATCTGAGAAGCGGCAAAAGTGG ACAAGAAGAGAAGAGGCTGATTTTTACCGTGTGGTATCCACCTTTGGGGTTATTTTTGACCCTGTGAAACAGCAATTTGACTGGAACCAA TTTAGAGCCTTTGCCAGGCTTGACAAAAAATCTGATGAGAGTTTGGAGAAATACTTCAGTTGTTTTGTGGCCATGTGTAGGCGAGTATGT CGAATGCCCGTCAAGCCAGATGATGAACCGCCCGACCTCTCCTCCATAATTGAGCCGATCACAGAGGAGCGAGCCTCTCGAACTCTGTAC CGCATTGAGCTGCTACGGAAGATCCGCGAGCAGGTTCTCCATCACCCCCAGCTGGGAGAGAGGCTTAAGCTCTGCCAGCCAAGCTTGGAT CTGCCAGAGTGGTGGGAGTGTGGACGGCATGACCGAGACTTGCTGGTTGGTGCTGCTAAACACGGGGTCAGTCGGACGGATTATCACATC CTCAATGACCCTGAGTTATCCTTCTTGGATGCACATAAAAACTTTGCTCAAAACAGAGGGGCAGGTAATACATCTTCCTTGAACCCACTG GCAGTTGGATTTGTCCAGACTCCTCCAGTCATCTCATCTGCTCATATTCAAGATGAGAGGGTACTGGAACAAGCCGAAGGCAAAGTGGAG GAGCCTGAAAACCCAGCTGCCAAGGAGAAATGTGAGGGCAAAGAAGAGGAAGAAGAAACCGATGGCAGCGGGAAGGAGAGCAAGCAGGAA TGTGAGGCAGAGGCCAGCTCTGTGAAAAATGAACTGAAAGGTGTTGAGGTCGGCGCAGACACTGGGTCCAAATCTATTTCAGAGAAAGGT TCCGAAGAGGATGAAGAGGAAAAGCTGGAGGATGACGATAAGTCGGAAGAGTCTTCCCAGCCCGAAGCAGGAGCTGTCTCTAGAGGGAAG AATTTTGATGAAGAAAGCAATGCTTCCATGAGCACTGCTAGAGATGAAACCCGAGATGGATTCTACATGGAGGACGGAGATCCTTCAGTA GCTCAGCTCCTTCATGAAAGAACATTTGCCTTCTCGTTTTGGCCTAAGGATAGAGTAATGATAAACCGCTTAGACAACATCTGTGAAGCA GTGTTGAAAGGCAAATGGCCAGTAAATAGGCGCCAGATGTTTGATTTCCAAGGCCTCATCCCAGGTTACACACCCACCACAGTGGACAGC CCCTTGCAGAAGAGGAGCTTTGCTGAGCTCTCCATGGTCGGCCAAGCCAGCATTAGTGGGAGTGAGGACATCACTACGTCTCCTCAGTTG TCAAAGGAAGATGCCCTCAACCTCTCTGTCCCTCGCCAGCGGAGGAGGAGGAGGAGAAAAATCGAAATTGAGGCCGAAAGAGCTGCCAAG AGGCGAAATCTCATGGAGATGGTTGCCCAGCTTCGAGAGTCTCAGGTGGTCTCAGAAAATGGACAAGAAAAAGTTGTAGATTTATCAAAG GCCTCAAGAGAGGCAACAAGCTCTACCTCAAATTTTTCATCTCTTTCTTCAAAGTTTATCTTGCCTAATGTCTCAACACCAGTGTCTGAT GCCTTTAAGACTCAAATGGAACTGCTCCAAGCAGGCCTTTCGCGCACACCCACAAGGCATCTCCTTAATGGCTCCCTAGTGGATGGAGAG CCTCCCATGAAGAGGAGGCGGGGAAGGAGGAAAAATGTGGAGGGACTTGATCTGCTTTTCATGAGCCACAAACGGACGTCATTGAGTGCA GAGGATGCTGAGGTGACCAAAGCTTTTGAAGAAGATATAGAGACCCCACCAACAAGAAACATTCCTTCTCCCGGACAGCTGGACCCAGAC ACACGGATCCCTGTTATCAATCTTGAAGATGGGACTAGGCTGGTGGGGGAAGATGCTCCTAAAAATAAGGATTTAGTTGAATGGCTGAAG CTGCACCCTACTTACACTGTTGATATGCCAAGTTATGTACCAAAGAATGCAGATGTGCTGTTTTCCTCATTTCAGAAACCGAAACAGAAA CGACATAGATGTCGAAACCCTAATAAATTGGATATAAACACTTTGACAGGAGAAGAAAGGGTGCCTGTTGTCAATAAACGAAATGGGAAG AAGATGGGTGGAGCTATGGCGCCTCCAATGAAGGATCTACCCAGGTGGCTGGAAGAAAATCCTGAATTTGCAGTTGCTCCAGACTGGACT GATATAGTTAAGCAGTCTGGTTTTGTTCCTGAGTCGATGTTTGACCGCCTTCTCACTGGGCCTGTAGTGCGGGGAGAGGGAGCGAGCAGA AGAGGAAGAAGGCCCAAAAGTGAGATCGCCAGAGCAGCCGCGGCCGCCGCTGCTGTGGCCTCCACGTCAGGGATCAACCCTTTGCTGGTG AACAGCCTGTTTGCTGGAATGGACCTGACGAGCCTTCAGAATCTCCAGAATCTCCAGTCGCTCCAGCTGGCAGGCCTCATGGGCTTCCCT CCAGGACTGGCAACAGCTGCCACCGCCGGAGGCGATGCGAAGAACCCTGCTGCTGTGCTGCCCCTGATGCTGCCAGGAATGGCGGGCCTG CCCAACGTGTTTGGCTTGGGCGGGCTGTTGAATAACCCTCTGTCAGCTGCTACTGGAAACACCACTACTGCTTCTAGTCAAGGAGAACCG GAAGACAGCACTTCAAAAGGAGAGGAGAAAGGAAATGAGAATGAAGACGAGAACAAAGACTCTGAGAAAAGCACAGATGCTGTTTCGGCT GCTGACTCTGCGAATGGATCTGTTGGTGCTGCTACTGCCCCGGCTGGATTGCCCTCAAACCCGCTAGCCTTCAACCCTTTCCTCCTGTCC ACAATGGCCCCGGGCCTCTTCTACCCATCCATGTTTCTACCTCCAGGACTGGGGGGATTGACGCTGCCTGGGTTCCCAGCATTGGCAGGA CTTCAGAATGCCGTGGGCTCCAGCGAAGAAAAGGCTGCTGACAAGGCTGAGGGAGGACCCTTTAAAGATGGAGAGACCCTTGAAGGCAGC GATGCCGAGGAGAGCCTGGATAAGACTGCAGAGTCCTCCCTCTTAGAAGACGAAATAGCACAGGGTGAAGAGCTAGACTCACTTGATGGG GGGGATGAAATAGAAAACAATGAAAATGATGAATAACCAGTACCAGTTCCAGTTCAAGTGTTTAAAACTTTTGACAAGTGGTAGTCCTAC TGTTTACACTCACAGTTAATGTTCATACCTAGTTTTATAAGCTGTTCTGTAACATAGTGTAGCAAAAAAAAAAGTTCAAGTCATGTTATA CAGGTGTGTCAAAAGGTATCTTGGTCATTAAGTATTGTGCAGTGCATTATTTATTATCCCTAGGAGAGATGAAATTTGAGAGGTGATCAT GTCTTTTTAAGGAAACTTACATAATGCTCTGCTTTTTTTTTTTCTCTTGGTACCATTGGTATTATAATAAAGAGCAATTTGTAACTGAGT GGCACTAATGGAAGAAAGTGCTGCTCAAAGGAAGTATGAAGTTATATATTTAATTTTTTAATTTTAATTTTTAATTTTTTTGCTGTGAAG GTCAAGCTGAAATTTACCATACATATCATACTTGCTCATTTGTTTCCCTTTTTGACTGTATGGGGGTTCCCACACTCGTGCATACACACA CATCCATACACTCTGACAATCTCCACGCTAGTGTGAACGCCTCTGTCCCGAGGCGCAGCAATAATAAGGCAGCTGTTGAATGTGAAGGGT CCCTTTGGAAAATTAACCTACTGGGAGGGTTCTTGCCAGACAGAACTACAGTTCCATTGTCTCGTGGTCTTGTAATGCACTGGTAAAAAC AAAATAAATAGATGAATAAATAAAGAGTGAGAGAAGAGAGAATCAGGTACCTTTTTTAAATTAAAGGACTTTGTTACTTTAGCCACAAAG CTAAAACAGCATTACCTCAGCTCTAAACTAGCCTTGAAGTTTACAGACATGACTTTGTAAATGTATTGTTTTTCTTTGTTGTGATGTCCT TTTATTTTTTTCTTTGAAAACTGCTATCATGTAAGATAAAATGTAAATTGCTGCCAACTGTAGTAATGATGCTTTTAATAAAAGTGACCC >71278_71278_1_RAB2A-CHD7_RAB2A_chr8_61484672_ENST00000262646_CHD7_chr8_61693559_ENST00000423902_length(amino acids)=2504AA_BP=147 MAYAYLFKYIIIGDTGVGKSCLLLQFTDKRFQPVHDLTIGVEFGARMITIDGKQIKLQIWDTHSPSEPFLEKPVPDMTQVSGPNAQLVKS DDYLPSIEQQPQQKKKKKKNNHIVAEDPSKGFGKDDFPGGVDNQELNRNSLDGSQEEKKKKKRSKAKKDPKEPKEPKEKKEPKEPKTPKA PKIPKEPKEKKAKTATPKPKSSKKSSNKKPDSEASALKKKVNKGKTEGSENSDLDKTPPPSPPPEEDEDPGVQKRRSSRQVKRKRYTEDL EFKISDEEADDADAAGRDSPSNTSQSEQQESVDAEGPVVEKIMSSRSVKKQKESGEEVEIEEFYVKYKNFSYLHCQWASIEDLEKDKRIQ QKIKRFKAKQGQNKFLSEIEDELFNPDYVEVDRIMDFARSTDDRGEPVTHYLVKWCSLPYEDSTWERRQDIDQAKIEEFEKLMSREPETE RVERPPADDWKKSESSREYKNNNKLREYQLEGVNWLLFNWYNMRNCILADEMGLGKTIQSITFLYEIYLKGIHGPFLVIAPLSTIPNWER EFRTWTELNVVVYHGSQASRRTIQLYEMYFKDPQGRVIKGSYKFHAIITTFEMILTDCPELRNIPWRCVVIDEAHRLKNRNCKLLEGLKM MDLEHKVLLTGTPLQNTVEELFSLLHFLEPSRFPSETTFMQEFGDLKTEEQVQKLQAILKPMMLRRLKEDVEKNLAPKEETIIEVELTNI QKKYYRAILEKNFTFLSKGGGQANVPNLLNTMMELRKCCNHPYLINGAEEKILEEFKETHNAESPDFQLQAMIQAAGKLVLIDKLLPKLK AGGHRVLIFSQMVRCLDILEDYLIQRRYPYERIDGRVRGNLRQAAIDRFSKPDSDRFVFLLCTRAGGLGINLTAADTCIIFDSDWNPQND LQAQARCHRIGQSKSVKIYRLITRNSYEREMFDKASLKLGLDKAVLQSMSGRENATNGVQQLSKKEIEDLLRKGAYGALMDEEDEGSKFC EEDIDQILLRRTHTITIESEGKGSTFAKASFVASGNRTDISLDDPNFWQKWAKKAELDIDALNGRNNLVIDTPRVRKQTRLYSAVKEDEL MEFSDLESDSEEKPCAKPRRPQDKSQGYARSECFRVEKNLLVYGWGRWTDILSHGRYKRQLTEQDVETICRTILVYCLNHYKGDENIKSF IWDLITPTADGQTRALVNHSGLSAPVPRGRKGKKVKAQSTQPVVQDADWLASCNPDALFQEDSYKKHLKHHCNKVLLRVRMLYYLRQEVI GDQADKILEGADSSEADVWIPEPFHAEVPADWWDKEADKSLLIGVFKHGYEKYNSMRADPALCFLERVGMPDAKAIAAEQRGTDMLADGG DGGEFDREDEDPEYKPTRTPFKDEIDEFANSPSEDKEESMEIHATGKHSESNAELGQLYWPNTSTLTTRLRRLITAYQRSYKRQQMRQEA LMKTDRRRRRPREEVRALEAEREAIISEKRQKWTRREEADFYRVVSTFGVIFDPVKQQFDWNQFRAFARLDKKSDESLEKYFSCFVAMCR RVCRMPVKPDDEPPDLSSIIEPITEERASRTLYRIELLRKIREQVLHHPQLGERLKLCQPSLDLPEWWECGRHDRDLLVGAAKHGVSRTD YHILNDPELSFLDAHKNFAQNRGAGNTSSLNPLAVGFVQTPPVISSAHIQDERVLEQAEGKVEEPENPAAKEKCEGKEEEEETDGSGKES KQECEAEASSVKNELKGVEVGADTGSKSISEKGSEEDEEEKLEDDDKSEESSQPEAGAVSRGKNFDEESNASMSTARDETRDGFYMEDGD PSVAQLLHERTFAFSFWPKDRVMINRLDNICEAVLKGKWPVNRRQMFDFQGLIPGYTPTTVDSPLQKRSFAELSMVGQASISGSEDITTS PQLSKEDALNLSVPRQRRRRRRKIEIEAERAAKRRNLMEMVAQLRESQVVSENGQEKVVDLSKASREATSSTSNFSSLSSKFILPNVSTP VSDAFKTQMELLQAGLSRTPTRHLLNGSLVDGEPPMKRRRGRRKNVEGLDLLFMSHKRTSLSAEDAEVTKAFEEDIETPPTRNIPSPGQL DPDTRIPVINLEDGTRLVGEDAPKNKDLVEWLKLHPTYTVDMPSYVPKNADVLFSSFQKPKQKRHRCRNPNKLDINTLTGEERVPVVNKR NGKKMGGAMAPPMKDLPRWLEENPEFAVAPDWTDIVKQSGFVPESMFDRLLTGPVVRGEGASRRGRRPKSEIARAAAAAAAVASTSGINP LLVNSLFAGMDLTSLQNLQNLQSLQLAGLMGFPPGLATAATAGGDAKNPAAVLPLMLPGMAGLPNVFGLGGLLNNPLSAATGNTTTASSQ GEPEDSTSKGEEKGNENEDENKDSEKSTDAVSAADSANGSVGAATAPAGLPSNPLAFNPFLLSTMAPGLFYPSMFLPPGLGGLTLPGFPA -------------------------------------------------------------- >71278_71278_2_RAB2A-CHD7_RAB2A_chr8_61484672_ENST00000262646_CHD7_chr8_61693559_ENST00000524602_length(transcript)=2260nt_BP=537nt TGGCGGGGCGCGGCCAGCGTGCAGGGCTGGGCCAGCGTGCGGGGCTCCTCCCCTTTCCTCCGGCGGCGCCGGCGGCCGCAGAACTTCCGG GTCGGCGCGGAGGCGGGGCGGAGGCGCCGCGGCGGCTGTTATTGTTCGGCTGGGCTCGGTCGGGCGCTGTCTCCCTCGGCTCTGCGGGTG TCAGTTCGTCCGGCTTCCTCACAGCCCCTCACTCCCGGCGGCTGACAGCAGCAGCGGCGGCGGCGGGCGGCGCCTGGCGTTTCGAGGCTG AGCGGCACCGGGGTTGGGGCGCGGAGGAGGAGCAGCAGCGGGAGGAGGAGCCGTGTGCCCTGGCACTGAGCGGCCGCGGCCATGGCGTAC GCCTATCTCTTCAAGTACATCATAATCGGCGACACAGGTGTTGGTAAATCATGCTTATTGCTACAGTTTACAGACAAGAGGTTTCAGCCA GTGCATGACCTTACTATTGGTGTAGAGTTCGGTGCTCGAATGATAACTATTGATGGGAAACAGATAAAACTTCAGATATGGGATACGCAT TCCCCGTCGGAGCCCTTTCTAGAGAAACCAGTGCCGGATATGACTCAGAAACCGAAACAGAAACGACATAGATGTCGAAACCCTAATAAA TTGGATATAAACACTTTGACAGGAGAAGAAAGGGTGCCTGTTGTCAATAAACGAAATGGGAAGAAGATGGGTGGAGCTATGGCGCCTCCA ATGAAGGATCTACCCAGGTGGCTGGAAGAAAATCCTGAATTTGCAGTTGCTCCAGACTGGACTGATATAGTTAAGCAGTCTGGTTTTGTT CCTGAGTCGATGTTTGACCGCCTTCTCACTGGGCCTGTAGTGCGGGGAGAGGGAGCGAGCAGAAGAGGAAGAAGGCCCAAAAGTGAGATC GCCAGAGCAGCCGCGGCCGCCGCTGCTGTGGCCTCCACGTCAGGGATCAACCCTTTGCTGGTGAACAGCCTGTTTGCTGGAATGGACCTG ACGAGCCTTCAGAATCTCCAGAATCTCCAGTCGCTCCAGCTGGCAGGCCTCATGGGCTTCCCTCCAGGACTGGCAACAGCTGCCACCGCC GGAGGCGATGCGAAGAACCCTGCTGCTGTGCTGCCCCTGATGCTGCCAGGAATGGCGGGCCTGCCCAACGTGTTTGGCTTGGGCGGGCTG TTGAATAACCCTCTGTCAGCTGCTACTGGAAACACCACTACTGCTTCTAGTCAAGGAGAACCGGAAGACAGCACTTCAAAAGGAGAGGAG AAAGGAAATGAGAATGAAGACGAGAACAAAGACTCTGAGAAAAGCACAGATGCTGTTTCGGCTGCTGACTCTGCGAATGGATCTGTTGGT GCTGCTACTGCCCCGGCTGGATTGCCCTCAAACCCGCTAGCCTTCAACCCTTTCCTCCTGTCCACAATGGCCCCGGGCCTCTTCTACCCA TCCATGTTTCTACCTCCAGGACTGGGGGGATTGACGCTGCCTGGGTTCCCAGCATTGGCAGGACTTCAGAATGCCGTGGGCTCCAGCGAA GAAAAGGCTGCTGACAAGGCTGAGGGAGGACCCTTTAAAGATGGAGAGACCCTTGAAGGCAGCGATGCCGAGGAGAGCCTGGATAAGACT GCAGAGTCCTCCCTCTTAGAAGACGAAATAGCACAGGGTGAAGAGCTAGACTCACTTGATGGGGGGGATGAAATAGAAAACAATGAAAAT GATGAATAACCAGTACCAGTTCCAGTTCAAGTGTTTAAAACTTTTGACAAGTGGTAGTCCTACTGTTTACACTCACAGTTAATGTTCATA CCTAGTTTTATAAGCTGTTCTGTAACATAGTGTAGCAAAAAAAAAAGTTCAAGTCATGTTATACAGGTGTGTCAAAAGGTATCTTGGTCA TTAAGTATTGTGCAGTGCATTATTTATTATCCCTAGGAGAGATGAAATTTGAGAGGTGATCATGTCTTTTTAAGGAAACTTACATAATGC TCTGCTTTTTTTTTTTCTCTTGGTACCATTGGTATTATAATAAAGAGCAATTTGTAACTGAGTGGCACTAATGGAAGAAAGTGCTGCTCA AAGGAAGTATGAAGTTATATATTTAATTTTTTAATTTTAATTTTTAATTTTTTTGCTGTGAAGGTCAAGCTGAAATTTACCATACATATC ATACTTGCTCATTTGTTTCCCTTTTTGACTGTATGGGGGTTCCCACACTCGTGCATACACACACATCCATACACTCTGACAATCTCCACG >71278_71278_2_RAB2A-CHD7_RAB2A_chr8_61484672_ENST00000262646_CHD7_chr8_61693559_ENST00000524602_length(amino acids)=455AA_BP=0 MAYAYLFKYIIIGDTGVGKSCLLLQFTDKRFQPVHDLTIGVEFGARMITIDGKQIKLQIWDTHSPSEPFLEKPVPDMTQKPKQKRHRCRN PNKLDINTLTGEERVPVVNKRNGKKMGGAMAPPMKDLPRWLEENPEFAVAPDWTDIVKQSGFVPESMFDRLLTGPVVRGEGASRRGRRPK SEIARAAAAAAAVASTSGINPLLVNSLFAGMDLTSLQNLQNLQSLQLAGLMGFPPGLATAATAGGDAKNPAAVLPLMLPGMAGLPNVFGL GGLLNNPLSAATGNTTTASSQGEPEDSTSKGEEKGNENEDENKDSEKSTDAVSAADSANGSVGAATAPAGLPSNPLAFNPFLLSTMAPGL FYPSMFLPPGLGGLTLPGFPALAGLQNAVGSSEEKAADKAEGGPFKDGETLEGSDAEESLDKTAESSLLEDEIAQGEELDSLDGGDEIEN -------------------------------------------------------------- >71278_71278_3_RAB2A-CHD7_RAB2A_chr8_61484672_ENST00000262646_CHD7_chr8_61693559_ENST00000525508_length(transcript)=3649nt_BP=537nt TGGCGGGGCGCGGCCAGCGTGCAGGGCTGGGCCAGCGTGCGGGGCTCCTCCCCTTTCCTCCGGCGGCGCCGGCGGCCGCAGAACTTCCGG GTCGGCGCGGAGGCGGGGCGGAGGCGCCGCGGCGGCTGTTATTGTTCGGCTGGGCTCGGTCGGGCGCTGTCTCCCTCGGCTCTGCGGGTG TCAGTTCGTCCGGCTTCCTCACAGCCCCTCACTCCCGGCGGCTGACAGCAGCAGCGGCGGCGGCGGGCGGCGCCTGGCGTTTCGAGGCTG AGCGGCACCGGGGTTGGGGCGCGGAGGAGGAGCAGCAGCGGGAGGAGGAGCCGTGTGCCCTGGCACTGAGCGGCCGCGGCCATGGCGTAC GCCTATCTCTTCAAGTACATCATAATCGGCGACACAGGTGTTGGTAAATCATGCTTATTGCTACAGTTTACAGACAAGAGGTTTCAGCCA GTGCATGACCTTACTATTGGTGTAGAGTTCGGTGCTCGAATGATAACTATTGATGGGAAACAGATAAAACTTCAGATATGGGATACGCAT TCCCCGTCGGAGCCCTTTCTAGAGAAACCAGTGCCGGATATGACTCAGGTTAGTGGACCGAATGCTCAGCTAGTGAAGAGTGATGATTAC CTGCCATCAATAGAACAGCAGCCACAACAAAAGAAGAAGAAAAAGAAAAACAACCACATTGTAGCAGAGGATCCCAGTAAAGGTTTTGGT AAAGATGACTTCCCTGGTGGGGTAGATAACCAAGAACTAAATAGGAACTCACTGGATGGGTCCCAAGAAGAAAAAAAGAAAAAGAAAAGG TCAAAGGCAAAAAAAGACCCGAAGGAACCGAAAGAACCCAAGGAGAAAAAAGAGCCCAAGGAACCCAAGACCCCGAAAGCCCCTAAGATT CCCAAAGAGCCAAAGGAAAAGAAAGCAAAAACTGCCACGCCAAAACCCAAATCCAGCAAAAAGTCAAGTAATAAGAAACCTGACTCAGAA GCAAGTGCTTTGAAGAAAAAGGTCAACAAGGGAAAAACAGAAGGTTCTGAAAATTCAGACTTAGACAAAACACCCCCACCATCTCCTCCT CCTGAAGAAGATGAGGACCCAGGTGTTCAGAAGAGACGGTCCAGCAGACAGGTGAAGAGAAAGCGCTACACTGAAGACCTGGAGTTCAAG ATTTCTGATGAGGAGGCAGATGATGCAGATGCTGCTGGGAGGGATTCCCCCTCCAACACCTCCCAGTCAGAACAGCAGGAATCTGTTGAT GCAGAAGGCCCAGTGGTAGAAAAAATTATGAGCAGTCGTTCAGTAAAAAAGCAGAAGGAATCTGGAGAGGAGGTAGAAATTGAGGAATTC TATGTGAAATACAAAAACTTCTCTTATCTTCATTGTCAGTGGGCATCTATAGAAGATCTGGAAAAAGATAAGAGAATTCAGCAAAAAATT AAACGATTTAAGGCAAAGCAGGGCCAGAACAAGTTCCTTTCAGAGATTGAGGATGAGCTTTTTAATCCAGATTATGTGGAGGTTGACCGG ATAATGGACTTTGCACGTAGCACAGATGACCGGGGAGAGCCTGTGACTCACTATCTGGTGAAGTGGTGTTCACTTCCTTATGAAGACAGC ACGTGGGAGCGGAGGCAGGACATAGATCAAGCAAAGATCGAGGAGTTTGAGAAACTAATGTCCAGGGAGCCGGAAACAGAGCGTGTGGAG CGACCTCCTGCTGATGATTGGAAGAAATCGGAGAGTTCCAGGGAGTATAAAAACAATAACAAACTCAGGGAATACCAGTTGGAGGGAGTA AACTGGCTACTTTTCAATTGGTACAACATGCGAAACTGCATTTTAGCAGATGAAATGGGTTTGGGAAAAACTATCCAGTCCATTACATTT CTCTATGAGATATATTTGAAAGGAATCCATGGCCCTTTTTTAGTAATTGCCCCATTGTCCACAATCCCCAACTGGGAAAGGGAATTCCGA ACCTGGACAGAGTTGAACGTGGTTGTGTATCATGGGAGTCAAGCTAGTCGTCGGACCATTCAGTTGTATGAAATGTACTTCAAAGATCCC CAGGGTCGAGTGATAAAGGGGTCCTATAAGTTTCATGCCATCATCACTACATTTGAGATGATTTTGACTGATTGTCCTGAGCTGCGGAAT ATTCCATGGCGCTGTGTAGTCATTGATGAAGCCCACAGGCTGAAGAACAGGAACTGCAAGCTGTTGGAGGGACTCAAGATGATGGACTTG GTCAGTGACCATATTGGTGATTGCACTGAACCTGAATAGAATTGTTGCTGACTTGATAGTCCCGTTGCTCAGAATTTGATGCCTGTAAAC AGTATTTGAAAAGCTTGTCAAATATTGTGATATATTCTCTGGCACTTTCAGTTATTCAAAAGTTGTTGCCTTTTGGATTCTTACATTGTT GGCTAGTGTCTGTTAAACAGTTGTATTATAGCAGAGTGTAATCATGATAGTTTCACTAAAGTGAGTTTCAAGTATTTGTTTTACCCTTTG TTCATAAATACAGGTTGATCATACCAAATACAAAAATCCCAGAATCCAAAACGTTTTGAGTACCCACATAATGCTAAAAGGAAATGCTCA TTGGAGCATTTTGGATTTTGGATTTTCTCATTTGGGATGTTCAACCCGTAAGTATAAATGCAGATATTCCAAAATCTAAAAATATCTGAA ATCTGAAACACTCTGGTCCCAAGAATTTTGGATAAGGGATACTTAACCTGTACTGCCATTTCATTAACTGTTGGGCCAAGCTTTACTTCA GTGATGATAGTCCAGTTATTTTTCAGTGCTCATAGGTTTTGCCATACTGTGGCCAGCAGGACTTGTAGATGCAAGTTCTCAATGAGTTGG GTAGGATATCTGGGGTTGGTTTAGTTCGCACAGATGCTTAGAAGTTTGGGGCATTACAGTGCCTCAGATTTGATCTGGAGTTTTACACCA CACTTATCCCATAGTCTTCCAGCTTCCCAAGAGATGATCAGGTCTTCCTGATTAGATTTTCTAGATTTTTTTTTCAGCAGGAGCATCATG GAATAACATATCGTAGGAGTAGAAGGATTTGATTTATTTTCTGTCTGATACTGCTGTGTGTGATTTCCTAGTGGGAATTGCAACATGACC TGTCATCCTCAGGCTTCTTTTCACTCCATAGTTTATATAGTGGTTATGATCACTTATATTTTATTTTTAATGTACATTTGGAAAGCAAAG CTCCTGTCATTTAGCATGCCTTGGATGATTTGATGAGTTTCACGGAAGTACAAAAAGGGTTTCAAAGTATTTTTAATGCTAATTTCTGCA GGCTAATTTGATCTTTTGTTAACTGAGAGTTTGAGATGAGAAGGAGTGTTCTGTATATTCATGGCCATATGTTTTTAGCTGAAGACTGGT ATTACCAAAAAACACCTAAAAGCTTTTTGTTGCAGCTGATTCTCTGAAAGAGCAGCTTATTTTATTCTTAAAGAGATTAGAATTGCCAGC TATGCTTTTAGTTTAAAACAAACAAAATCTAGTTTTGCTTAAAGGAAAAAGTCTGACTGAATTATCCTATTTAGGGTGGGATTTCCCATT >71278_71278_3_RAB2A-CHD7_RAB2A_chr8_61484672_ENST00000262646_CHD7_chr8_61693559_ENST00000525508_length(amino acids)=645AA_BP=147 MAYAYLFKYIIIGDTGVGKSCLLLQFTDKRFQPVHDLTIGVEFGARMITIDGKQIKLQIWDTHSPSEPFLEKPVPDMTQVSGPNAQLVKS DDYLPSIEQQPQQKKKKKKNNHIVAEDPSKGFGKDDFPGGVDNQELNRNSLDGSQEEKKKKKRSKAKKDPKEPKEPKEKKEPKEPKTPKA PKIPKEPKEKKAKTATPKPKSSKKSSNKKPDSEASALKKKVNKGKTEGSENSDLDKTPPPSPPPEEDEDPGVQKRRSSRQVKRKRYTEDL EFKISDEEADDADAAGRDSPSNTSQSEQQESVDAEGPVVEKIMSSRSVKKQKESGEEVEIEEFYVKYKNFSYLHCQWASIEDLEKDKRIQ QKIKRFKAKQGQNKFLSEIEDELFNPDYVEVDRIMDFARSTDDRGEPVTHYLVKWCSLPYEDSTWERRQDIDQAKIEEFEKLMSREPETE RVERPPADDWKKSESSREYKNNNKLREYQLEGVNWLLFNWYNMRNCILADEMGLGKTIQSITFLYEIYLKGIHGPFLVIAPLSTIPNWER EFRTWTELNVVVYHGSQASRRTIQLYEMYFKDPQGRVIKGSYKFHAIITTFEMILTDCPELRNIPWRCVVIDEAHRLKNRNCKLLEGLKM -------------------------------------------------------------- >71278_71278_4_RAB2A-CHD7_RAB2A_chr8_61484672_ENST00000529579_CHD7_chr8_61693559_ENST00000423902_length(transcript)=8515nt_BP=213nt GTGCCCTGGCACTGAGCGGCCGCGGCCATGGCGTACGCCTATCTCTTCAAGTACATCATAATCGGCGACACAGGTGTTGGTAAATCATGC TTATTGCTACAGTTTACAGACAAGAGGTTTCAGCCAGTGCATGACCTTACTATTGGTGTAGAGTTCGGTGCTCGAATGATAACTATTGAT GGGAAACAGATAAAACTTCAGATATGGGATACGCATTCCCCGTCGGAGCCCTTTCTAGAGAAACCAGTGCCGGATATGACTCAGGTTAGT GGACCGAATGCTCAGCTAGTGAAGAGTGATGATTACCTGCCATCAATAGAACAGCAGCCACAACAAAAGAAGAAGAAAAAGAAAAACAAC CACATTGTAGCAGAGGATCCCAGTAAAGGTTTTGGTAAAGATGACTTCCCTGGTGGGGTAGATAACCAAGAACTAAATAGGAACTCACTG GATGGGTCCCAAGAAGAAAAAAAGAAAAAGAAAAGGTCAAAGGCAAAAAAAGACCCGAAGGAACCGAAAGAACCCAAGGAGAAAAAAGAG CCCAAGGAACCCAAGACCCCGAAAGCCCCTAAGATTCCCAAAGAGCCAAAGGAAAAGAAAGCAAAAACTGCCACGCCAAAACCCAAATCC AGCAAAAAGTCAAGTAATAAGAAACCTGACTCAGAAGCAAGTGCTTTGAAGAAAAAGGTCAACAAGGGAAAAACAGAAGGTTCTGAAAAT TCAGACTTAGACAAAACACCCCCACCATCTCCTCCTCCTGAAGAAGATGAGGACCCAGGTGTTCAGAAGAGACGGTCCAGCAGACAGGTG AAGAGAAAGCGCTACACTGAAGACCTGGAGTTCAAGATTTCTGATGAGGAGGCAGATGATGCAGATGCTGCTGGGAGGGATTCCCCCTCC AACACCTCCCAGTCAGAACAGCAGGAATCTGTTGATGCAGAAGGCCCAGTGGTAGAAAAAATTATGAGCAGTCGTTCAGTAAAAAAGCAG AAGGAATCTGGAGAGGAGGTAGAAATTGAGGAATTCTATGTGAAATACAAAAACTTCTCTTATCTTCATTGTCAGTGGGCATCTATAGAA GATCTGGAAAAAGATAAGAGAATTCAGCAAAAAATTAAACGATTTAAGGCAAAGCAGGGCCAGAACAAGTTCCTTTCAGAGATTGAGGAT GAGCTTTTTAATCCAGATTATGTGGAGGTTGACCGGATAATGGACTTTGCACGTAGCACAGATGACCGGGGAGAGCCTGTGACTCACTAT CTGGTGAAGTGGTGTTCACTTCCTTATGAAGACAGCACGTGGGAGCGGAGGCAGGACATAGATCAAGCAAAGATCGAGGAGTTTGAGAAA CTAATGTCCAGGGAGCCGGAAACAGAGCGTGTGGAGCGACCTCCTGCTGATGATTGGAAGAAATCGGAGAGTTCCAGGGAGTATAAAAAC AATAACAAACTCAGGGAATACCAGTTGGAGGGAGTAAACTGGCTACTTTTCAATTGGTACAACATGCGAAACTGCATTTTAGCAGATGAA ATGGGTTTGGGAAAAACTATCCAGTCCATTACATTTCTCTATGAGATATATTTGAAAGGAATCCATGGCCCTTTTTTAGTAATTGCCCCA TTGTCCACAATCCCCAACTGGGAAAGGGAATTCCGAACCTGGACAGAGTTGAACGTGGTTGTGTATCATGGGAGTCAAGCTAGTCGTCGG ACCATTCAGTTGTATGAAATGTACTTCAAAGATCCCCAGGGTCGAGTGATAAAGGGGTCCTATAAGTTTCATGCCATCATCACTACATTT GAGATGATTTTGACTGATTGTCCTGAGCTGCGGAATATTCCATGGCGCTGTGTAGTCATTGATGAAGCCCACAGGCTGAAGAACAGGAAC TGCAAGCTGTTGGAGGGACTCAAGATGATGGACTTGGAACACAAAGTGCTGCTGACGGGAACCCCACTCCAGAACACTGTGGAAGAACTC TTCAGCTTGCTTCATTTCTTGGAACCAAGTCGCTTCCCTTCAGAAACCACATTTATGCAAGAATTTGGTGATCTAAAAACAGAAGAGCAG GTGCAAAAACTTCAAGCTATTCTAAAGCCAATGATGTTGAGACGTCTCAAAGAGGATGTAGAAAAGAACTTGGCCCCCAAAGAAGAAACT ATTATTGAAGTTGAGCTAACAAACATTCAGAAGAAATATTACCGAGCCATCCTTGAGAAGAATTTCACATTTCTTTCCAAAGGCGGTGGT CAAGCTAACGTACCTAACCTATTAAACACTATGATGGAATTGCGGAAGTGCTGCAATCATCCGTACCTTATCAATGGTGCTGAAGAGAAA ATTTTGGAAGAGTTTAAAGAAACACACAATGCAGAGTCTCCAGATTTTCAGCTCCAGGCAATGATCCAGGCTGCTGGCAAGCTAGTGCTG ATTGACAAGCTGCTGCCAAAACTGAAGGCTGGTGGCCACAGGGTGCTTATCTTTTCCCAGATGGTGCGCTGCTTGGACATACTGGAAGAC TACCTCATTCAAAGACGGTACCCATATGAAAGGATCGACGGCCGAGTAAGAGGCAACCTCCGCCAGGCAGCTATCGACAGATTCTCCAAA CCTGATTCTGATAGGTTTGTTTTCCTCCTGTGTACAAGGGCAGGAGGTTTAGGCATTAACCTCACTGCTGCTGATACCTGCATCATCTTT GATTCAGACTGGAATCCCCAAAATGACCTCCAGGCTCAGGCTAGATGTCATAGAATAGGACAGAGCAAATCTGTGAAAATCTACAGGCTG ATTACAAGAAATTCCTATGAAAGGGAAATGTTCGACAAGGCTAGTTTGAAACTGGGCCTGGATAAAGCTGTGCTACAGTCTATGAGTGGA AGAGAAAATGCTACCAATGGGGTACAACAGCTTTCCAAGAAAGAAATAGAGGATCTTCTACGAAAAGGGGCCTATGGTGCACTCATGGAT GAGGAGGATGAAGGGTCTAAATTCTGTGAAGAAGATATTGATCAGATCCTCCTACGTCGAACCCACACCATTACCATTGAGTCAGAAGGG AAAGGTTCCACATTTGCTAAGGCCAGTTTTGTTGCATCTGGAAATAGGACAGATATTTCCTTGGATGATCCAAATTTCTGGCAAAAGTGG GCTAAGAAGGCTGAATTGGATATTGATGCCTTAAATGGGAGGAACAACCTGGTTATTGATACTCCAAGAGTGAGAAAGCAGACCAGGCTC TACAGTGCAGTGAAGGAAGATGAGCTGATGGAGTTCTCAGACTTGGAAAGTGATTCTGAAGAAAAGCCCTGTGCAAAGCCACGGCGTCCC CAGGATAAGTCACAGGGCTATGCAAGGAGTGAATGTTTCAGGGTGGAGAAGAATCTGCTTGTCTATGGTTGGGGACGGTGGACAGACATT CTTTCCCACGGACGCTATAAACGCCAACTCACTGAGCAAGATGTAGAAACCATCTGCAGAACCATCCTGGTGTACTGTCTTAATCATTAC AAAGGGGATGAGAATATCAAAAGCTTCATCTGGGATCTGATCACACCCACAGCGGATGGCCAGACTCGAGCCTTGGTCAACCATTCCGGT TTGTCAGCTCCTGTGCCAAGGGGAAGGAAGGGAAAGAAGGTGAAAGCCCAGAGCACACAGCCGGTGGTGCAGGATGCCGACTGGCTGGCC AGCTGCAACCCAGATGCCCTGTTCCAGGAGGACAGCTACAAGAAACACCTGAAGCATCACTGTAACAAGGTCCTGCTGCGTGTCCGCATG CTGTACTACCTAAGACAAGAAGTGATAGGAGACCAGGCGGATAAGATCTTAGAGGGTGCTGACTCAAGTGAAGCCGATGTGTGGATCCCT GAACCTTTCCATGCTGAAGTTCCTGCAGATTGGTGGGATAAGGAAGCAGACAAATCCCTCTTAATTGGAGTGTTCAAACATGGCTATGAG AAGTACAACTCCATGCGAGCTGACCCCGCGCTGTGCTTTCTGGAACGAGTCGGTATGCCTGATGCCAAGGCCATAGCTGCCGAGCAAAGA GGAACAGACATGCTAGCAGATGGTGGTGACGGGGGAGAATTTGATAGAGAAGATGAAGACCCAGAATATAAACCAACCAGAACACCGTTC AAAGATGAAATAGATGAATTTGCAAATTCTCCTTCAGAGGATAAGGAAGAATCCATGGAAATACATGCCACAGGCAAGCACAGTGAGAGT AATGCTGAGTTAGGCCAACTTTACTGGCCTAACACTTCAACCCTGACTACACGTCTGCGCCGGCTCATTACTGCCTATCAGCGCAGCTAT AAAAGGCAACAGATGAGGCAAGAGGCCCTAATGAAGACTGACCGGCGCAGACGGCGGCCTCGAGAGGAAGTGAGAGCTCTGGAAGCGGAA AGGGAAGCTATTATATCTGAGAAGCGGCAAAAGTGGACAAGAAGAGAAGAGGCTGATTTTTACCGTGTGGTATCCACCTTTGGGGTTATT TTTGACCCTGTGAAACAGCAATTTGACTGGAACCAATTTAGAGCCTTTGCCAGGCTTGACAAAAAATCTGATGAGAGTTTGGAGAAATAC TTCAGTTGTTTTGTGGCCATGTGTAGGCGAGTATGTCGAATGCCCGTCAAGCCAGATGATGAACCGCCCGACCTCTCCTCCATAATTGAG CCGATCACAGAGGAGCGAGCCTCTCGAACTCTGTACCGCATTGAGCTGCTACGGAAGATCCGCGAGCAGGTTCTCCATCACCCCCAGCTG GGAGAGAGGCTTAAGCTCTGCCAGCCAAGCTTGGATCTGCCAGAGTGGTGGGAGTGTGGACGGCATGACCGAGACTTGCTGGTTGGTGCT GCTAAACACGGGGTCAGTCGGACGGATTATCACATCCTCAATGACCCTGAGTTATCCTTCTTGGATGCACATAAAAACTTTGCTCAAAAC AGAGGGGCAGGTAATACATCTTCCTTGAACCCACTGGCAGTTGGATTTGTCCAGACTCCTCCAGTCATCTCATCTGCTCATATTCAAGAT GAGAGGGTACTGGAACAAGCCGAAGGCAAAGTGGAGGAGCCTGAAAACCCAGCTGCCAAGGAGAAATGTGAGGGCAAAGAAGAGGAAGAA GAAACCGATGGCAGCGGGAAGGAGAGCAAGCAGGAATGTGAGGCAGAGGCCAGCTCTGTGAAAAATGAACTGAAAGGTGTTGAGGTCGGC GCAGACACTGGGTCCAAATCTATTTCAGAGAAAGGTTCCGAAGAGGATGAAGAGGAAAAGCTGGAGGATGACGATAAGTCGGAAGAGTCT TCCCAGCCCGAAGCAGGAGCTGTCTCTAGAGGGAAGAATTTTGATGAAGAAAGCAATGCTTCCATGAGCACTGCTAGAGATGAAACCCGA GATGGATTCTACATGGAGGACGGAGATCCTTCAGTAGCTCAGCTCCTTCATGAAAGAACATTTGCCTTCTCGTTTTGGCCTAAGGATAGA GTAATGATAAACCGCTTAGACAACATCTGTGAAGCAGTGTTGAAAGGCAAATGGCCAGTAAATAGGCGCCAGATGTTTGATTTCCAAGGC CTCATCCCAGGTTACACACCCACCACAGTGGACAGCCCCTTGCAGAAGAGGAGCTTTGCTGAGCTCTCCATGGTCGGCCAAGCCAGCATT AGTGGGAGTGAGGACATCACTACGTCTCCTCAGTTGTCAAAGGAAGATGCCCTCAACCTCTCTGTCCCTCGCCAGCGGAGGAGGAGGAGG AGAAAAATCGAAATTGAGGCCGAAAGAGCTGCCAAGAGGCGAAATCTCATGGAGATGGTTGCCCAGCTTCGAGAGTCTCAGGTGGTCTCA GAAAATGGACAAGAAAAAGTTGTAGATTTATCAAAGGCCTCAAGAGAGGCAACAAGCTCTACCTCAAATTTTTCATCTCTTTCTTCAAAG TTTATCTTGCCTAATGTCTCAACACCAGTGTCTGATGCCTTTAAGACTCAAATGGAACTGCTCCAAGCAGGCCTTTCGCGCACACCCACA AGGCATCTCCTTAATGGCTCCCTAGTGGATGGAGAGCCTCCCATGAAGAGGAGGCGGGGAAGGAGGAAAAATGTGGAGGGACTTGATCTG CTTTTCATGAGCCACAAACGGACGTCATTGAGTGCAGAGGATGCTGAGGTGACCAAAGCTTTTGAAGAAGATATAGAGACCCCACCAACA AGAAACATTCCTTCTCCCGGACAGCTGGACCCAGACACACGGATCCCTGTTATCAATCTTGAAGATGGGACTAGGCTGGTGGGGGAAGAT GCTCCTAAAAATAAGGATTTAGTTGAATGGCTGAAGCTGCACCCTACTTACACTGTTGATATGCCAAGTTATGTACCAAAGAATGCAGAT GTGCTGTTTTCCTCATTTCAGAAACCGAAACAGAAACGACATAGATGTCGAAACCCTAATAAATTGGATATAAACACTTTGACAGGAGAA GAAAGGGTGCCTGTTGTCAATAAACGAAATGGGAAGAAGATGGGTGGAGCTATGGCGCCTCCAATGAAGGATCTACCCAGGTGGCTGGAA GAAAATCCTGAATTTGCAGTTGCTCCAGACTGGACTGATATAGTTAAGCAGTCTGGTTTTGTTCCTGAGTCGATGTTTGACCGCCTTCTC ACTGGGCCTGTAGTGCGGGGAGAGGGAGCGAGCAGAAGAGGAAGAAGGCCCAAAAGTGAGATCGCCAGAGCAGCCGCGGCCGCCGCTGCT GTGGCCTCCACGTCAGGGATCAACCCTTTGCTGGTGAACAGCCTGTTTGCTGGAATGGACCTGACGAGCCTTCAGAATCTCCAGAATCTC CAGTCGCTCCAGCTGGCAGGCCTCATGGGCTTCCCTCCAGGACTGGCAACAGCTGCCACCGCCGGAGGCGATGCGAAGAACCCTGCTGCT GTGCTGCCCCTGATGCTGCCAGGAATGGCGGGCCTGCCCAACGTGTTTGGCTTGGGCGGGCTGTTGAATAACCCTCTGTCAGCTGCTACT GGAAACACCACTACTGCTTCTAGTCAAGGAGAACCGGAAGACAGCACTTCAAAAGGAGAGGAGAAAGGAAATGAGAATGAAGACGAGAAC AAAGACTCTGAGAAAAGCACAGATGCTGTTTCGGCTGCTGACTCTGCGAATGGATCTGTTGGTGCTGCTACTGCCCCGGCTGGATTGCCC TCAAACCCGCTAGCCTTCAACCCTTTCCTCCTGTCCACAATGGCCCCGGGCCTCTTCTACCCATCCATGTTTCTACCTCCAGGACTGGGG GGATTGACGCTGCCTGGGTTCCCAGCATTGGCAGGACTTCAGAATGCCGTGGGCTCCAGCGAAGAAAAGGCTGCTGACAAGGCTGAGGGA GGACCCTTTAAAGATGGAGAGACCCTTGAAGGCAGCGATGCCGAGGAGAGCCTGGATAAGACTGCAGAGTCCTCCCTCTTAGAAGACGAA ATAGCACAGGGTGAAGAGCTAGACTCACTTGATGGGGGGGATGAAATAGAAAACAATGAAAATGATGAATAACCAGTACCAGTTCCAGTT CAAGTGTTTAAAACTTTTGACAAGTGGTAGTCCTACTGTTTACACTCACAGTTAATGTTCATACCTAGTTTTATAAGCTGTTCTGTAACA TAGTGTAGCAAAAAAAAAAGTTCAAGTCATGTTATACAGGTGTGTCAAAAGGTATCTTGGTCATTAAGTATTGTGCAGTGCATTATTTAT TATCCCTAGGAGAGATGAAATTTGAGAGGTGATCATGTCTTTTTAAGGAAACTTACATAATGCTCTGCTTTTTTTTTTTCTCTTGGTACC ATTGGTATTATAATAAAGAGCAATTTGTAACTGAGTGGCACTAATGGAAGAAAGTGCTGCTCAAAGGAAGTATGAAGTTATATATTTAAT TTTTTAATTTTAATTTTTAATTTTTTTGCTGTGAAGGTCAAGCTGAAATTTACCATACATATCATACTTGCTCATTTGTTTCCCTTTTTG ACTGTATGGGGGTTCCCACACTCGTGCATACACACACATCCATACACTCTGACAATCTCCACGCTAGTGTGAACGCCTCTGTCCCGAGGC GCAGCAATAATAAGGCAGCTGTTGAATGTGAAGGGTCCCTTTGGAAAATTAACCTACTGGGAGGGTTCTTGCCAGACAGAACTACAGTTC CATTGTCTCGTGGTCTTGTAATGCACTGGTAAAAACAAAATAAATAGATGAATAAATAAAGAGTGAGAGAAGAGAGAATCAGGTACCTTT TTTAAATTAAAGGACTTTGTTACTTTAGCCACAAAGCTAAAACAGCATTACCTCAGCTCTAAACTAGCCTTGAAGTTTACAGACATGACT TTGTAAATGTATTGTTTTTCTTTGTTGTGATGTCCTTTTATTTTTTTCTTTGAAAACTGCTATCATGTAAGATAAAATGTAAATTGCTGC >71278_71278_4_RAB2A-CHD7_RAB2A_chr8_61484672_ENST00000529579_CHD7_chr8_61693559_ENST00000423902_length(amino acids)=2504AA_BP=147 MAYAYLFKYIIIGDTGVGKSCLLLQFTDKRFQPVHDLTIGVEFGARMITIDGKQIKLQIWDTHSPSEPFLEKPVPDMTQVSGPNAQLVKS DDYLPSIEQQPQQKKKKKKNNHIVAEDPSKGFGKDDFPGGVDNQELNRNSLDGSQEEKKKKKRSKAKKDPKEPKEPKEKKEPKEPKTPKA PKIPKEPKEKKAKTATPKPKSSKKSSNKKPDSEASALKKKVNKGKTEGSENSDLDKTPPPSPPPEEDEDPGVQKRRSSRQVKRKRYTEDL EFKISDEEADDADAAGRDSPSNTSQSEQQESVDAEGPVVEKIMSSRSVKKQKESGEEVEIEEFYVKYKNFSYLHCQWASIEDLEKDKRIQ QKIKRFKAKQGQNKFLSEIEDELFNPDYVEVDRIMDFARSTDDRGEPVTHYLVKWCSLPYEDSTWERRQDIDQAKIEEFEKLMSREPETE RVERPPADDWKKSESSREYKNNNKLREYQLEGVNWLLFNWYNMRNCILADEMGLGKTIQSITFLYEIYLKGIHGPFLVIAPLSTIPNWER EFRTWTELNVVVYHGSQASRRTIQLYEMYFKDPQGRVIKGSYKFHAIITTFEMILTDCPELRNIPWRCVVIDEAHRLKNRNCKLLEGLKM MDLEHKVLLTGTPLQNTVEELFSLLHFLEPSRFPSETTFMQEFGDLKTEEQVQKLQAILKPMMLRRLKEDVEKNLAPKEETIIEVELTNI QKKYYRAILEKNFTFLSKGGGQANVPNLLNTMMELRKCCNHPYLINGAEEKILEEFKETHNAESPDFQLQAMIQAAGKLVLIDKLLPKLK AGGHRVLIFSQMVRCLDILEDYLIQRRYPYERIDGRVRGNLRQAAIDRFSKPDSDRFVFLLCTRAGGLGINLTAADTCIIFDSDWNPQND LQAQARCHRIGQSKSVKIYRLITRNSYEREMFDKASLKLGLDKAVLQSMSGRENATNGVQQLSKKEIEDLLRKGAYGALMDEEDEGSKFC EEDIDQILLRRTHTITIESEGKGSTFAKASFVASGNRTDISLDDPNFWQKWAKKAELDIDALNGRNNLVIDTPRVRKQTRLYSAVKEDEL MEFSDLESDSEEKPCAKPRRPQDKSQGYARSECFRVEKNLLVYGWGRWTDILSHGRYKRQLTEQDVETICRTILVYCLNHYKGDENIKSF IWDLITPTADGQTRALVNHSGLSAPVPRGRKGKKVKAQSTQPVVQDADWLASCNPDALFQEDSYKKHLKHHCNKVLLRVRMLYYLRQEVI GDQADKILEGADSSEADVWIPEPFHAEVPADWWDKEADKSLLIGVFKHGYEKYNSMRADPALCFLERVGMPDAKAIAAEQRGTDMLADGG DGGEFDREDEDPEYKPTRTPFKDEIDEFANSPSEDKEESMEIHATGKHSESNAELGQLYWPNTSTLTTRLRRLITAYQRSYKRQQMRQEA LMKTDRRRRRPREEVRALEAEREAIISEKRQKWTRREEADFYRVVSTFGVIFDPVKQQFDWNQFRAFARLDKKSDESLEKYFSCFVAMCR RVCRMPVKPDDEPPDLSSIIEPITEERASRTLYRIELLRKIREQVLHHPQLGERLKLCQPSLDLPEWWECGRHDRDLLVGAAKHGVSRTD YHILNDPELSFLDAHKNFAQNRGAGNTSSLNPLAVGFVQTPPVISSAHIQDERVLEQAEGKVEEPENPAAKEKCEGKEEEEETDGSGKES KQECEAEASSVKNELKGVEVGADTGSKSISEKGSEEDEEEKLEDDDKSEESSQPEAGAVSRGKNFDEESNASMSTARDETRDGFYMEDGD PSVAQLLHERTFAFSFWPKDRVMINRLDNICEAVLKGKWPVNRRQMFDFQGLIPGYTPTTVDSPLQKRSFAELSMVGQASISGSEDITTS PQLSKEDALNLSVPRQRRRRRRKIEIEAERAAKRRNLMEMVAQLRESQVVSENGQEKVVDLSKASREATSSTSNFSSLSSKFILPNVSTP VSDAFKTQMELLQAGLSRTPTRHLLNGSLVDGEPPMKRRRGRRKNVEGLDLLFMSHKRTSLSAEDAEVTKAFEEDIETPPTRNIPSPGQL DPDTRIPVINLEDGTRLVGEDAPKNKDLVEWLKLHPTYTVDMPSYVPKNADVLFSSFQKPKQKRHRCRNPNKLDINTLTGEERVPVVNKR NGKKMGGAMAPPMKDLPRWLEENPEFAVAPDWTDIVKQSGFVPESMFDRLLTGPVVRGEGASRRGRRPKSEIARAAAAAAAVASTSGINP LLVNSLFAGMDLTSLQNLQNLQSLQLAGLMGFPPGLATAATAGGDAKNPAAVLPLMLPGMAGLPNVFGLGGLLNNPLSAATGNTTTASSQ GEPEDSTSKGEEKGNENEDENKDSEKSTDAVSAADSANGSVGAATAPAGLPSNPLAFNPFLLSTMAPGLFYPSMFLPPGLGGLTLPGFPA -------------------------------------------------------------- >71278_71278_5_RAB2A-CHD7_RAB2A_chr8_61484672_ENST00000529579_CHD7_chr8_61693559_ENST00000524602_length(transcript)=1936nt_BP=213nt GTGCCCTGGCACTGAGCGGCCGCGGCCATGGCGTACGCCTATCTCTTCAAGTACATCATAATCGGCGACACAGGTGTTGGTAAATCATGC TTATTGCTACAGTTTACAGACAAGAGGTTTCAGCCAGTGCATGACCTTACTATTGGTGTAGAGTTCGGTGCTCGAATGATAACTATTGAT GGGAAACAGATAAAACTTCAGATATGGGATACGCATTCCCCGTCGGAGCCCTTTCTAGAGAAACCAGTGCCGGATATGACTCAGAAACCG AAACAGAAACGACATAGATGTCGAAACCCTAATAAATTGGATATAAACACTTTGACAGGAGAAGAAAGGGTGCCTGTTGTCAATAAACGA AATGGGAAGAAGATGGGTGGAGCTATGGCGCCTCCAATGAAGGATCTACCCAGGTGGCTGGAAGAAAATCCTGAATTTGCAGTTGCTCCA GACTGGACTGATATAGTTAAGCAGTCTGGTTTTGTTCCTGAGTCGATGTTTGACCGCCTTCTCACTGGGCCTGTAGTGCGGGGAGAGGGA GCGAGCAGAAGAGGAAGAAGGCCCAAAAGTGAGATCGCCAGAGCAGCCGCGGCCGCCGCTGCTGTGGCCTCCACGTCAGGGATCAACCCT TTGCTGGTGAACAGCCTGTTTGCTGGAATGGACCTGACGAGCCTTCAGAATCTCCAGAATCTCCAGTCGCTCCAGCTGGCAGGCCTCATG GGCTTCCCTCCAGGACTGGCAACAGCTGCCACCGCCGGAGGCGATGCGAAGAACCCTGCTGCTGTGCTGCCCCTGATGCTGCCAGGAATG GCGGGCCTGCCCAACGTGTTTGGCTTGGGCGGGCTGTTGAATAACCCTCTGTCAGCTGCTACTGGAAACACCACTACTGCTTCTAGTCAA GGAGAACCGGAAGACAGCACTTCAAAAGGAGAGGAGAAAGGAAATGAGAATGAAGACGAGAACAAAGACTCTGAGAAAAGCACAGATGCT GTTTCGGCTGCTGACTCTGCGAATGGATCTGTTGGTGCTGCTACTGCCCCGGCTGGATTGCCCTCAAACCCGCTAGCCTTCAACCCTTTC CTCCTGTCCACAATGGCCCCGGGCCTCTTCTACCCATCCATGTTTCTACCTCCAGGACTGGGGGGATTGACGCTGCCTGGGTTCCCAGCA TTGGCAGGACTTCAGAATGCCGTGGGCTCCAGCGAAGAAAAGGCTGCTGACAAGGCTGAGGGAGGACCCTTTAAAGATGGAGAGACCCTT GAAGGCAGCGATGCCGAGGAGAGCCTGGATAAGACTGCAGAGTCCTCCCTCTTAGAAGACGAAATAGCACAGGGTGAAGAGCTAGACTCA CTTGATGGGGGGGATGAAATAGAAAACAATGAAAATGATGAATAACCAGTACCAGTTCCAGTTCAAGTGTTTAAAACTTTTGACAAGTGG TAGTCCTACTGTTTACACTCACAGTTAATGTTCATACCTAGTTTTATAAGCTGTTCTGTAACATAGTGTAGCAAAAAAAAAAGTTCAAGT CATGTTATACAGGTGTGTCAAAAGGTATCTTGGTCATTAAGTATTGTGCAGTGCATTATTTATTATCCCTAGGAGAGATGAAATTTGAGA GGTGATCATGTCTTTTTAAGGAAACTTACATAATGCTCTGCTTTTTTTTTTTCTCTTGGTACCATTGGTATTATAATAAAGAGCAATTTG TAACTGAGTGGCACTAATGGAAGAAAGTGCTGCTCAAAGGAAGTATGAAGTTATATATTTAATTTTTTAATTTTAATTTTTAATTTTTTT GCTGTGAAGGTCAAGCTGAAATTTACCATACATATCATACTTGCTCATTTGTTTCCCTTTTTGACTGTATGGGGGTTCCCACACTCGTGC >71278_71278_5_RAB2A-CHD7_RAB2A_chr8_61484672_ENST00000529579_CHD7_chr8_61693559_ENST00000524602_length(amino acids)=455AA_BP=0 MAYAYLFKYIIIGDTGVGKSCLLLQFTDKRFQPVHDLTIGVEFGARMITIDGKQIKLQIWDTHSPSEPFLEKPVPDMTQKPKQKRHRCRN PNKLDINTLTGEERVPVVNKRNGKKMGGAMAPPMKDLPRWLEENPEFAVAPDWTDIVKQSGFVPESMFDRLLTGPVVRGEGASRRGRRPK SEIARAAAAAAAVASTSGINPLLVNSLFAGMDLTSLQNLQNLQSLQLAGLMGFPPGLATAATAGGDAKNPAAVLPLMLPGMAGLPNVFGL GGLLNNPLSAATGNTTTASSQGEPEDSTSKGEEKGNENEDENKDSEKSTDAVSAADSANGSVGAATAPAGLPSNPLAFNPFLLSTMAPGL FYPSMFLPPGLGGLTLPGFPALAGLQNAVGSSEEKAADKAEGGPFKDGETLEGSDAEESLDKTAESSLLEDEIAQGEELDSLDGGDEIEN -------------------------------------------------------------- >71278_71278_6_RAB2A-CHD7_RAB2A_chr8_61484672_ENST00000529579_CHD7_chr8_61693559_ENST00000525508_length(transcript)=3325nt_BP=213nt GTGCCCTGGCACTGAGCGGCCGCGGCCATGGCGTACGCCTATCTCTTCAAGTACATCATAATCGGCGACACAGGTGTTGGTAAATCATGC TTATTGCTACAGTTTACAGACAAGAGGTTTCAGCCAGTGCATGACCTTACTATTGGTGTAGAGTTCGGTGCTCGAATGATAACTATTGAT GGGAAACAGATAAAACTTCAGATATGGGATACGCATTCCCCGTCGGAGCCCTTTCTAGAGAAACCAGTGCCGGATATGACTCAGGTTAGT GGACCGAATGCTCAGCTAGTGAAGAGTGATGATTACCTGCCATCAATAGAACAGCAGCCACAACAAAAGAAGAAGAAAAAGAAAAACAAC CACATTGTAGCAGAGGATCCCAGTAAAGGTTTTGGTAAAGATGACTTCCCTGGTGGGGTAGATAACCAAGAACTAAATAGGAACTCACTG GATGGGTCCCAAGAAGAAAAAAAGAAAAAGAAAAGGTCAAAGGCAAAAAAAGACCCGAAGGAACCGAAAGAACCCAAGGAGAAAAAAGAG CCCAAGGAACCCAAGACCCCGAAAGCCCCTAAGATTCCCAAAGAGCCAAAGGAAAAGAAAGCAAAAACTGCCACGCCAAAACCCAAATCC AGCAAAAAGTCAAGTAATAAGAAACCTGACTCAGAAGCAAGTGCTTTGAAGAAAAAGGTCAACAAGGGAAAAACAGAAGGTTCTGAAAAT TCAGACTTAGACAAAACACCCCCACCATCTCCTCCTCCTGAAGAAGATGAGGACCCAGGTGTTCAGAAGAGACGGTCCAGCAGACAGGTG AAGAGAAAGCGCTACACTGAAGACCTGGAGTTCAAGATTTCTGATGAGGAGGCAGATGATGCAGATGCTGCTGGGAGGGATTCCCCCTCC AACACCTCCCAGTCAGAACAGCAGGAATCTGTTGATGCAGAAGGCCCAGTGGTAGAAAAAATTATGAGCAGTCGTTCAGTAAAAAAGCAG AAGGAATCTGGAGAGGAGGTAGAAATTGAGGAATTCTATGTGAAATACAAAAACTTCTCTTATCTTCATTGTCAGTGGGCATCTATAGAA GATCTGGAAAAAGATAAGAGAATTCAGCAAAAAATTAAACGATTTAAGGCAAAGCAGGGCCAGAACAAGTTCCTTTCAGAGATTGAGGAT GAGCTTTTTAATCCAGATTATGTGGAGGTTGACCGGATAATGGACTTTGCACGTAGCACAGATGACCGGGGAGAGCCTGTGACTCACTAT CTGGTGAAGTGGTGTTCACTTCCTTATGAAGACAGCACGTGGGAGCGGAGGCAGGACATAGATCAAGCAAAGATCGAGGAGTTTGAGAAA CTAATGTCCAGGGAGCCGGAAACAGAGCGTGTGGAGCGACCTCCTGCTGATGATTGGAAGAAATCGGAGAGTTCCAGGGAGTATAAAAAC AATAACAAACTCAGGGAATACCAGTTGGAGGGAGTAAACTGGCTACTTTTCAATTGGTACAACATGCGAAACTGCATTTTAGCAGATGAA ATGGGTTTGGGAAAAACTATCCAGTCCATTACATTTCTCTATGAGATATATTTGAAAGGAATCCATGGCCCTTTTTTAGTAATTGCCCCA TTGTCCACAATCCCCAACTGGGAAAGGGAATTCCGAACCTGGACAGAGTTGAACGTGGTTGTGTATCATGGGAGTCAAGCTAGTCGTCGG ACCATTCAGTTGTATGAAATGTACTTCAAAGATCCCCAGGGTCGAGTGATAAAGGGGTCCTATAAGTTTCATGCCATCATCACTACATTT GAGATGATTTTGACTGATTGTCCTGAGCTGCGGAATATTCCATGGCGCTGTGTAGTCATTGATGAAGCCCACAGGCTGAAGAACAGGAAC TGCAAGCTGTTGGAGGGACTCAAGATGATGGACTTGGTCAGTGACCATATTGGTGATTGCACTGAACCTGAATAGAATTGTTGCTGACTT GATAGTCCCGTTGCTCAGAATTTGATGCCTGTAAACAGTATTTGAAAAGCTTGTCAAATATTGTGATATATTCTCTGGCACTTTCAGTTA TTCAAAAGTTGTTGCCTTTTGGATTCTTACATTGTTGGCTAGTGTCTGTTAAACAGTTGTATTATAGCAGAGTGTAATCATGATAGTTTC ACTAAAGTGAGTTTCAAGTATTTGTTTTACCCTTTGTTCATAAATACAGGTTGATCATACCAAATACAAAAATCCCAGAATCCAAAACGT TTTGAGTACCCACATAATGCTAAAAGGAAATGCTCATTGGAGCATTTTGGATTTTGGATTTTCTCATTTGGGATGTTCAACCCGTAAGTA TAAATGCAGATATTCCAAAATCTAAAAATATCTGAAATCTGAAACACTCTGGTCCCAAGAATTTTGGATAAGGGATACTTAACCTGTACT GCCATTTCATTAACTGTTGGGCCAAGCTTTACTTCAGTGATGATAGTCCAGTTATTTTTCAGTGCTCATAGGTTTTGCCATACTGTGGCC AGCAGGACTTGTAGATGCAAGTTCTCAATGAGTTGGGTAGGATATCTGGGGTTGGTTTAGTTCGCACAGATGCTTAGAAGTTTGGGGCAT TACAGTGCCTCAGATTTGATCTGGAGTTTTACACCACACTTATCCCATAGTCTTCCAGCTTCCCAAGAGATGATCAGGTCTTCCTGATTA GATTTTCTAGATTTTTTTTTCAGCAGGAGCATCATGGAATAACATATCGTAGGAGTAGAAGGATTTGATTTATTTTCTGTCTGATACTGC TGTGTGTGATTTCCTAGTGGGAATTGCAACATGACCTGTCATCCTCAGGCTTCTTTTCACTCCATAGTTTATATAGTGGTTATGATCACT TATATTTTATTTTTAATGTACATTTGGAAAGCAAAGCTCCTGTCATTTAGCATGCCTTGGATGATTTGATGAGTTTCACGGAAGTACAAA AAGGGTTTCAAAGTATTTTTAATGCTAATTTCTGCAGGCTAATTTGATCTTTTGTTAACTGAGAGTTTGAGATGAGAAGGAGTGTTCTGT ATATTCATGGCCATATGTTTTTAGCTGAAGACTGGTATTACCAAAAAACACCTAAAAGCTTTTTGTTGCAGCTGATTCTCTGAAAGAGCA GCTTATTTTATTCTTAAAGAGATTAGAATTGCCAGCTATGCTTTTAGTTTAAAACAAACAAAATCTAGTTTTGCTTAAAGGAAAAAGTCT >71278_71278_6_RAB2A-CHD7_RAB2A_chr8_61484672_ENST00000529579_CHD7_chr8_61693559_ENST00000525508_length(amino acids)=645AA_BP=147 MAYAYLFKYIIIGDTGVGKSCLLLQFTDKRFQPVHDLTIGVEFGARMITIDGKQIKLQIWDTHSPSEPFLEKPVPDMTQVSGPNAQLVKS DDYLPSIEQQPQQKKKKKKNNHIVAEDPSKGFGKDDFPGGVDNQELNRNSLDGSQEEKKKKKRSKAKKDPKEPKEPKEKKEPKEPKTPKA PKIPKEPKEKKAKTATPKPKSSKKSSNKKPDSEASALKKKVNKGKTEGSENSDLDKTPPPSPPPEEDEDPGVQKRRSSRQVKRKRYTEDL EFKISDEEADDADAAGRDSPSNTSQSEQQESVDAEGPVVEKIMSSRSVKKQKESGEEVEIEEFYVKYKNFSYLHCQWASIEDLEKDKRIQ QKIKRFKAKQGQNKFLSEIEDELFNPDYVEVDRIMDFARSTDDRGEPVTHYLVKWCSLPYEDSTWERRQDIDQAKIEEFEKLMSREPETE RVERPPADDWKKSESSREYKNNNKLREYQLEGVNWLLFNWYNMRNCILADEMGLGKTIQSITFLYEIYLKGIHGPFLVIAPLSTIPNWER EFRTWTELNVVVYHGSQASRRTIQLYEMYFKDPQGRVIKGSYKFHAIITTFEMILTDCPELRNIPWRCVVIDEAHRLKNRNCKLLEGLKM -------------------------------------------------------------- >71278_71278_7_RAB2A-CHD7_RAB2A_chr8_61484672_ENST00000531289_CHD7_chr8_61693559_ENST00000423902_length(transcript)=8688nt_BP=386nt AGAACTTCCGGGTCGGCGCGGAGGCGGGGCGGAGGCGCCGCGGCGGCTGTTATTGTTCGGCTGGGCTCGGTCGGGCGCTGTCTCCCTCGG CTCTGCGGGTGTCAGTTCGTCCGGCTTCCTCACAGCCCCTCACTCCCGGCGGCTGACAGCAGCAGCGGCGGCGGCGGGCGGCGCCTGGCG TTTCGAGGCTGAGCGGCACCGGGGTTGGGGCGCGGAGGAGGAGCAGCAGCGGGAGGAGGAGCCGTGTGCCCTGGCACTGAGCGGCCGCGG CCATGGCGTACGCCTATCTCTTCAAGTACATCATAATCGGCGACACAGGTGTAGAGTTCGGTGCTCGAATGATAACTATTGATGGGAAAC AGATAAAACTTCAGATATGGGATACGCATTCCCCGTCGGAGCCCTTTCTAGAGAAACCAGTGCCGGATATGACTCAGGTTAGTGGACCGA ATGCTCAGCTAGTGAAGAGTGATGATTACCTGCCATCAATAGAACAGCAGCCACAACAAAAGAAGAAGAAAAAGAAAAACAACCACATTG TAGCAGAGGATCCCAGTAAAGGTTTTGGTAAAGATGACTTCCCTGGTGGGGTAGATAACCAAGAACTAAATAGGAACTCACTGGATGGGT CCCAAGAAGAAAAAAAGAAAAAGAAAAGGTCAAAGGCAAAAAAAGACCCGAAGGAACCGAAAGAACCCAAGGAGAAAAAAGAGCCCAAGG AACCCAAGACCCCGAAAGCCCCTAAGATTCCCAAAGAGCCAAAGGAAAAGAAAGCAAAAACTGCCACGCCAAAACCCAAATCCAGCAAAA AGTCAAGTAATAAGAAACCTGACTCAGAAGCAAGTGCTTTGAAGAAAAAGGTCAACAAGGGAAAAACAGAAGGTTCTGAAAATTCAGACT TAGACAAAACACCCCCACCATCTCCTCCTCCTGAAGAAGATGAGGACCCAGGTGTTCAGAAGAGACGGTCCAGCAGACAGGTGAAGAGAA AGCGCTACACTGAAGACCTGGAGTTCAAGATTTCTGATGAGGAGGCAGATGATGCAGATGCTGCTGGGAGGGATTCCCCCTCCAACACCT CCCAGTCAGAACAGCAGGAATCTGTTGATGCAGAAGGCCCAGTGGTAGAAAAAATTATGAGCAGTCGTTCAGTAAAAAAGCAGAAGGAAT CTGGAGAGGAGGTAGAAATTGAGGAATTCTATGTGAAATACAAAAACTTCTCTTATCTTCATTGTCAGTGGGCATCTATAGAAGATCTGG AAAAAGATAAGAGAATTCAGCAAAAAATTAAACGATTTAAGGCAAAGCAGGGCCAGAACAAGTTCCTTTCAGAGATTGAGGATGAGCTTT TTAATCCAGATTATGTGGAGGTTGACCGGATAATGGACTTTGCACGTAGCACAGATGACCGGGGAGAGCCTGTGACTCACTATCTGGTGA AGTGGTGTTCACTTCCTTATGAAGACAGCACGTGGGAGCGGAGGCAGGACATAGATCAAGCAAAGATCGAGGAGTTTGAGAAACTAATGT CCAGGGAGCCGGAAACAGAGCGTGTGGAGCGACCTCCTGCTGATGATTGGAAGAAATCGGAGAGTTCCAGGGAGTATAAAAACAATAACA AACTCAGGGAATACCAGTTGGAGGGAGTAAACTGGCTACTTTTCAATTGGTACAACATGCGAAACTGCATTTTAGCAGATGAAATGGGTT TGGGAAAAACTATCCAGTCCATTACATTTCTCTATGAGATATATTTGAAAGGAATCCATGGCCCTTTTTTAGTAATTGCCCCATTGTCCA CAATCCCCAACTGGGAAAGGGAATTCCGAACCTGGACAGAGTTGAACGTGGTTGTGTATCATGGGAGTCAAGCTAGTCGTCGGACCATTC AGTTGTATGAAATGTACTTCAAAGATCCCCAGGGTCGAGTGATAAAGGGGTCCTATAAGTTTCATGCCATCATCACTACATTTGAGATGA TTTTGACTGATTGTCCTGAGCTGCGGAATATTCCATGGCGCTGTGTAGTCATTGATGAAGCCCACAGGCTGAAGAACAGGAACTGCAAGC TGTTGGAGGGACTCAAGATGATGGACTTGGAACACAAAGTGCTGCTGACGGGAACCCCACTCCAGAACACTGTGGAAGAACTCTTCAGCT TGCTTCATTTCTTGGAACCAAGTCGCTTCCCTTCAGAAACCACATTTATGCAAGAATTTGGTGATCTAAAAACAGAAGAGCAGGTGCAAA AACTTCAAGCTATTCTAAAGCCAATGATGTTGAGACGTCTCAAAGAGGATGTAGAAAAGAACTTGGCCCCCAAAGAAGAAACTATTATTG AAGTTGAGCTAACAAACATTCAGAAGAAATATTACCGAGCCATCCTTGAGAAGAATTTCACATTTCTTTCCAAAGGCGGTGGTCAAGCTA ACGTACCTAACCTATTAAACACTATGATGGAATTGCGGAAGTGCTGCAATCATCCGTACCTTATCAATGGTGCTGAAGAGAAAATTTTGG AAGAGTTTAAAGAAACACACAATGCAGAGTCTCCAGATTTTCAGCTCCAGGCAATGATCCAGGCTGCTGGCAAGCTAGTGCTGATTGACA AGCTGCTGCCAAAACTGAAGGCTGGTGGCCACAGGGTGCTTATCTTTTCCCAGATGGTGCGCTGCTTGGACATACTGGAAGACTACCTCA TTCAAAGACGGTACCCATATGAAAGGATCGACGGCCGAGTAAGAGGCAACCTCCGCCAGGCAGCTATCGACAGATTCTCCAAACCTGATT CTGATAGGTTTGTTTTCCTCCTGTGTACAAGGGCAGGAGGTTTAGGCATTAACCTCACTGCTGCTGATACCTGCATCATCTTTGATTCAG ACTGGAATCCCCAAAATGACCTCCAGGCTCAGGCTAGATGTCATAGAATAGGACAGAGCAAATCTGTGAAAATCTACAGGCTGATTACAA GAAATTCCTATGAAAGGGAAATGTTCGACAAGGCTAGTTTGAAACTGGGCCTGGATAAAGCTGTGCTACAGTCTATGAGTGGAAGAGAAA ATGCTACCAATGGGGTACAACAGCTTTCCAAGAAAGAAATAGAGGATCTTCTACGAAAAGGGGCCTATGGTGCACTCATGGATGAGGAGG ATGAAGGGTCTAAATTCTGTGAAGAAGATATTGATCAGATCCTCCTACGTCGAACCCACACCATTACCATTGAGTCAGAAGGGAAAGGTT CCACATTTGCTAAGGCCAGTTTTGTTGCATCTGGAAATAGGACAGATATTTCCTTGGATGATCCAAATTTCTGGCAAAAGTGGGCTAAGA AGGCTGAATTGGATATTGATGCCTTAAATGGGAGGAACAACCTGGTTATTGATACTCCAAGAGTGAGAAAGCAGACCAGGCTCTACAGTG CAGTGAAGGAAGATGAGCTGATGGAGTTCTCAGACTTGGAAAGTGATTCTGAAGAAAAGCCCTGTGCAAAGCCACGGCGTCCCCAGGATA AGTCACAGGGCTATGCAAGGAGTGAATGTTTCAGGGTGGAGAAGAATCTGCTTGTCTATGGTTGGGGACGGTGGACAGACATTCTTTCCC ACGGACGCTATAAACGCCAACTCACTGAGCAAGATGTAGAAACCATCTGCAGAACCATCCTGGTGTACTGTCTTAATCATTACAAAGGGG ATGAGAATATCAAAAGCTTCATCTGGGATCTGATCACACCCACAGCGGATGGCCAGACTCGAGCCTTGGTCAACCATTCCGGTTTGTCAG CTCCTGTGCCAAGGGGAAGGAAGGGAAAGAAGGTGAAAGCCCAGAGCACACAGCCGGTGGTGCAGGATGCCGACTGGCTGGCCAGCTGCA ACCCAGATGCCCTGTTCCAGGAGGACAGCTACAAGAAACACCTGAAGCATCACTGTAACAAGGTCCTGCTGCGTGTCCGCATGCTGTACT ACCTAAGACAAGAAGTGATAGGAGACCAGGCGGATAAGATCTTAGAGGGTGCTGACTCAAGTGAAGCCGATGTGTGGATCCCTGAACCTT TCCATGCTGAAGTTCCTGCAGATTGGTGGGATAAGGAAGCAGACAAATCCCTCTTAATTGGAGTGTTCAAACATGGCTATGAGAAGTACA ACTCCATGCGAGCTGACCCCGCGCTGTGCTTTCTGGAACGAGTCGGTATGCCTGATGCCAAGGCCATAGCTGCCGAGCAAAGAGGAACAG ACATGCTAGCAGATGGTGGTGACGGGGGAGAATTTGATAGAGAAGATGAAGACCCAGAATATAAACCAACCAGAACACCGTTCAAAGATG AAATAGATGAATTTGCAAATTCTCCTTCAGAGGATAAGGAAGAATCCATGGAAATACATGCCACAGGCAAGCACAGTGAGAGTAATGCTG AGTTAGGCCAACTTTACTGGCCTAACACTTCAACCCTGACTACACGTCTGCGCCGGCTCATTACTGCCTATCAGCGCAGCTATAAAAGGC AACAGATGAGGCAAGAGGCCCTAATGAAGACTGACCGGCGCAGACGGCGGCCTCGAGAGGAAGTGAGAGCTCTGGAAGCGGAAAGGGAAG CTATTATATCTGAGAAGCGGCAAAAGTGGACAAGAAGAGAAGAGGCTGATTTTTACCGTGTGGTATCCACCTTTGGGGTTATTTTTGACC CTGTGAAACAGCAATTTGACTGGAACCAATTTAGAGCCTTTGCCAGGCTTGACAAAAAATCTGATGAGAGTTTGGAGAAATACTTCAGTT GTTTTGTGGCCATGTGTAGGCGAGTATGTCGAATGCCCGTCAAGCCAGATGATGAACCGCCCGACCTCTCCTCCATAATTGAGCCGATCA CAGAGGAGCGAGCCTCTCGAACTCTGTACCGCATTGAGCTGCTACGGAAGATCCGCGAGCAGGTTCTCCATCACCCCCAGCTGGGAGAGA GGCTTAAGCTCTGCCAGCCAAGCTTGGATCTGCCAGAGTGGTGGGAGTGTGGACGGCATGACCGAGACTTGCTGGTTGGTGCTGCTAAAC ACGGGGTCAGTCGGACGGATTATCACATCCTCAATGACCCTGAGTTATCCTTCTTGGATGCACATAAAAACTTTGCTCAAAACAGAGGGG CAGGTAATACATCTTCCTTGAACCCACTGGCAGTTGGATTTGTCCAGACTCCTCCAGTCATCTCATCTGCTCATATTCAAGATGAGAGGG TACTGGAACAAGCCGAAGGCAAAGTGGAGGAGCCTGAAAACCCAGCTGCCAAGGAGAAATGTGAGGGCAAAGAAGAGGAAGAAGAAACCG ATGGCAGCGGGAAGGAGAGCAAGCAGGAATGTGAGGCAGAGGCCAGCTCTGTGAAAAATGAACTGAAAGGTGTTGAGGTCGGCGCAGACA CTGGGTCCAAATCTATTTCAGAGAAAGGTTCCGAAGAGGATGAAGAGGAAAAGCTGGAGGATGACGATAAGTCGGAAGAGTCTTCCCAGC CCGAAGCAGGAGCTGTCTCTAGAGGGAAGAATTTTGATGAAGAAAGCAATGCTTCCATGAGCACTGCTAGAGATGAAACCCGAGATGGAT TCTACATGGAGGACGGAGATCCTTCAGTAGCTCAGCTCCTTCATGAAAGAACATTTGCCTTCTCGTTTTGGCCTAAGGATAGAGTAATGA TAAACCGCTTAGACAACATCTGTGAAGCAGTGTTGAAAGGCAAATGGCCAGTAAATAGGCGCCAGATGTTTGATTTCCAAGGCCTCATCC CAGGTTACACACCCACCACAGTGGACAGCCCCTTGCAGAAGAGGAGCTTTGCTGAGCTCTCCATGGTCGGCCAAGCCAGCATTAGTGGGA GTGAGGACATCACTACGTCTCCTCAGTTGTCAAAGGAAGATGCCCTCAACCTCTCTGTCCCTCGCCAGCGGAGGAGGAGGAGGAGAAAAA TCGAAATTGAGGCCGAAAGAGCTGCCAAGAGGCGAAATCTCATGGAGATGGTTGCCCAGCTTCGAGAGTCTCAGGTGGTCTCAGAAAATG GACAAGAAAAAGTTGTAGATTTATCAAAGGCCTCAAGAGAGGCAACAAGCTCTACCTCAAATTTTTCATCTCTTTCTTCAAAGTTTATCT TGCCTAATGTCTCAACACCAGTGTCTGATGCCTTTAAGACTCAAATGGAACTGCTCCAAGCAGGCCTTTCGCGCACACCCACAAGGCATC TCCTTAATGGCTCCCTAGTGGATGGAGAGCCTCCCATGAAGAGGAGGCGGGGAAGGAGGAAAAATGTGGAGGGACTTGATCTGCTTTTCA TGAGCCACAAACGGACGTCATTGAGTGCAGAGGATGCTGAGGTGACCAAAGCTTTTGAAGAAGATATAGAGACCCCACCAACAAGAAACA TTCCTTCTCCCGGACAGCTGGACCCAGACACACGGATCCCTGTTATCAATCTTGAAGATGGGACTAGGCTGGTGGGGGAAGATGCTCCTA AAAATAAGGATTTAGTTGAATGGCTGAAGCTGCACCCTACTTACACTGTTGATATGCCAAGTTATGTACCAAAGAATGCAGATGTGCTGT TTTCCTCATTTCAGAAACCGAAACAGAAACGACATAGATGTCGAAACCCTAATAAATTGGATATAAACACTTTGACAGGAGAAGAAAGGG TGCCTGTTGTCAATAAACGAAATGGGAAGAAGATGGGTGGAGCTATGGCGCCTCCAATGAAGGATCTACCCAGGTGGCTGGAAGAAAATC CTGAATTTGCAGTTGCTCCAGACTGGACTGATATAGTTAAGCAGTCTGGTTTTGTTCCTGAGTCGATGTTTGACCGCCTTCTCACTGGGC CTGTAGTGCGGGGAGAGGGAGCGAGCAGAAGAGGAAGAAGGCCCAAAAGTGAGATCGCCAGAGCAGCCGCGGCCGCCGCTGCTGTGGCCT CCACGTCAGGGATCAACCCTTTGCTGGTGAACAGCCTGTTTGCTGGAATGGACCTGACGAGCCTTCAGAATCTCCAGAATCTCCAGTCGC TCCAGCTGGCAGGCCTCATGGGCTTCCCTCCAGGACTGGCAACAGCTGCCACCGCCGGAGGCGATGCGAAGAACCCTGCTGCTGTGCTGC CCCTGATGCTGCCAGGAATGGCGGGCCTGCCCAACGTGTTTGGCTTGGGCGGGCTGTTGAATAACCCTCTGTCAGCTGCTACTGGAAACA CCACTACTGCTTCTAGTCAAGGAGAACCGGAAGACAGCACTTCAAAAGGAGAGGAGAAAGGAAATGAGAATGAAGACGAGAACAAAGACT CTGAGAAAAGCACAGATGCTGTTTCGGCTGCTGACTCTGCGAATGGATCTGTTGGTGCTGCTACTGCCCCGGCTGGATTGCCCTCAAACC CGCTAGCCTTCAACCCTTTCCTCCTGTCCACAATGGCCCCGGGCCTCTTCTACCCATCCATGTTTCTACCTCCAGGACTGGGGGGATTGA CGCTGCCTGGGTTCCCAGCATTGGCAGGACTTCAGAATGCCGTGGGCTCCAGCGAAGAAAAGGCTGCTGACAAGGCTGAGGGAGGACCCT TTAAAGATGGAGAGACCCTTGAAGGCAGCGATGCCGAGGAGAGCCTGGATAAGACTGCAGAGTCCTCCCTCTTAGAAGACGAAATAGCAC AGGGTGAAGAGCTAGACTCACTTGATGGGGGGGATGAAATAGAAAACAATGAAAATGATGAATAACCAGTACCAGTTCCAGTTCAAGTGT TTAAAACTTTTGACAAGTGGTAGTCCTACTGTTTACACTCACAGTTAATGTTCATACCTAGTTTTATAAGCTGTTCTGTAACATAGTGTA GCAAAAAAAAAAGTTCAAGTCATGTTATACAGGTGTGTCAAAAGGTATCTTGGTCATTAAGTATTGTGCAGTGCATTATTTATTATCCCT AGGAGAGATGAAATTTGAGAGGTGATCATGTCTTTTTAAGGAAACTTACATAATGCTCTGCTTTTTTTTTTTCTCTTGGTACCATTGGTA TTATAATAAAGAGCAATTTGTAACTGAGTGGCACTAATGGAAGAAAGTGCTGCTCAAAGGAAGTATGAAGTTATATATTTAATTTTTTAA TTTTAATTTTTAATTTTTTTGCTGTGAAGGTCAAGCTGAAATTTACCATACATATCATACTTGCTCATTTGTTTCCCTTTTTGACTGTAT GGGGGTTCCCACACTCGTGCATACACACACATCCATACACTCTGACAATCTCCACGCTAGTGTGAACGCCTCTGTCCCGAGGCGCAGCAA TAATAAGGCAGCTGTTGAATGTGAAGGGTCCCTTTGGAAAATTAACCTACTGGGAGGGTTCTTGCCAGACAGAACTACAGTTCCATTGTC TCGTGGTCTTGTAATGCACTGGTAAAAACAAAATAAATAGATGAATAAATAAAGAGTGAGAGAAGAGAGAATCAGGTACCTTTTTTAAAT TAAAGGACTTTGTTACTTTAGCCACAAAGCTAAAACAGCATTACCTCAGCTCTAAACTAGCCTTGAAGTTTACAGACATGACTTTGTAAA TGTATTGTTTTTCTTTGTTGTGATGTCCTTTTATTTTTTTCTTTGAAAACTGCTATCATGTAAGATAAAATGTAAATTGCTGCCAACTGT >71278_71278_7_RAB2A-CHD7_RAB2A_chr8_61484672_ENST00000531289_CHD7_chr8_61693559_ENST00000423902_length(amino acids)=2480AA_BP=123 MAYAYLFKYIIIGDTGVEFGARMITIDGKQIKLQIWDTHSPSEPFLEKPVPDMTQVSGPNAQLVKSDDYLPSIEQQPQQKKKKKKNNHIV AEDPSKGFGKDDFPGGVDNQELNRNSLDGSQEEKKKKKRSKAKKDPKEPKEPKEKKEPKEPKTPKAPKIPKEPKEKKAKTATPKPKSSKK SSNKKPDSEASALKKKVNKGKTEGSENSDLDKTPPPSPPPEEDEDPGVQKRRSSRQVKRKRYTEDLEFKISDEEADDADAAGRDSPSNTS QSEQQESVDAEGPVVEKIMSSRSVKKQKESGEEVEIEEFYVKYKNFSYLHCQWASIEDLEKDKRIQQKIKRFKAKQGQNKFLSEIEDELF NPDYVEVDRIMDFARSTDDRGEPVTHYLVKWCSLPYEDSTWERRQDIDQAKIEEFEKLMSREPETERVERPPADDWKKSESSREYKNNNK LREYQLEGVNWLLFNWYNMRNCILADEMGLGKTIQSITFLYEIYLKGIHGPFLVIAPLSTIPNWEREFRTWTELNVVVYHGSQASRRTIQ LYEMYFKDPQGRVIKGSYKFHAIITTFEMILTDCPELRNIPWRCVVIDEAHRLKNRNCKLLEGLKMMDLEHKVLLTGTPLQNTVEELFSL LHFLEPSRFPSETTFMQEFGDLKTEEQVQKLQAILKPMMLRRLKEDVEKNLAPKEETIIEVELTNIQKKYYRAILEKNFTFLSKGGGQAN VPNLLNTMMELRKCCNHPYLINGAEEKILEEFKETHNAESPDFQLQAMIQAAGKLVLIDKLLPKLKAGGHRVLIFSQMVRCLDILEDYLI QRRYPYERIDGRVRGNLRQAAIDRFSKPDSDRFVFLLCTRAGGLGINLTAADTCIIFDSDWNPQNDLQAQARCHRIGQSKSVKIYRLITR NSYEREMFDKASLKLGLDKAVLQSMSGRENATNGVQQLSKKEIEDLLRKGAYGALMDEEDEGSKFCEEDIDQILLRRTHTITIESEGKGS TFAKASFVASGNRTDISLDDPNFWQKWAKKAELDIDALNGRNNLVIDTPRVRKQTRLYSAVKEDELMEFSDLESDSEEKPCAKPRRPQDK SQGYARSECFRVEKNLLVYGWGRWTDILSHGRYKRQLTEQDVETICRTILVYCLNHYKGDENIKSFIWDLITPTADGQTRALVNHSGLSA PVPRGRKGKKVKAQSTQPVVQDADWLASCNPDALFQEDSYKKHLKHHCNKVLLRVRMLYYLRQEVIGDQADKILEGADSSEADVWIPEPF HAEVPADWWDKEADKSLLIGVFKHGYEKYNSMRADPALCFLERVGMPDAKAIAAEQRGTDMLADGGDGGEFDREDEDPEYKPTRTPFKDE IDEFANSPSEDKEESMEIHATGKHSESNAELGQLYWPNTSTLTTRLRRLITAYQRSYKRQQMRQEALMKTDRRRRRPREEVRALEAEREA IISEKRQKWTRREEADFYRVVSTFGVIFDPVKQQFDWNQFRAFARLDKKSDESLEKYFSCFVAMCRRVCRMPVKPDDEPPDLSSIIEPIT EERASRTLYRIELLRKIREQVLHHPQLGERLKLCQPSLDLPEWWECGRHDRDLLVGAAKHGVSRTDYHILNDPELSFLDAHKNFAQNRGA GNTSSLNPLAVGFVQTPPVISSAHIQDERVLEQAEGKVEEPENPAAKEKCEGKEEEEETDGSGKESKQECEAEASSVKNELKGVEVGADT GSKSISEKGSEEDEEEKLEDDDKSEESSQPEAGAVSRGKNFDEESNASMSTARDETRDGFYMEDGDPSVAQLLHERTFAFSFWPKDRVMI NRLDNICEAVLKGKWPVNRRQMFDFQGLIPGYTPTTVDSPLQKRSFAELSMVGQASISGSEDITTSPQLSKEDALNLSVPRQRRRRRRKI EIEAERAAKRRNLMEMVAQLRESQVVSENGQEKVVDLSKASREATSSTSNFSSLSSKFILPNVSTPVSDAFKTQMELLQAGLSRTPTRHL LNGSLVDGEPPMKRRRGRRKNVEGLDLLFMSHKRTSLSAEDAEVTKAFEEDIETPPTRNIPSPGQLDPDTRIPVINLEDGTRLVGEDAPK NKDLVEWLKLHPTYTVDMPSYVPKNADVLFSSFQKPKQKRHRCRNPNKLDINTLTGEERVPVVNKRNGKKMGGAMAPPMKDLPRWLEENP EFAVAPDWTDIVKQSGFVPESMFDRLLTGPVVRGEGASRRGRRPKSEIARAAAAAAAVASTSGINPLLVNSLFAGMDLTSLQNLQNLQSL QLAGLMGFPPGLATAATAGGDAKNPAAVLPLMLPGMAGLPNVFGLGGLLNNPLSAATGNTTTASSQGEPEDSTSKGEEKGNENEDENKDS EKSTDAVSAADSANGSVGAATAPAGLPSNPLAFNPFLLSTMAPGLFYPSMFLPPGLGGLTLPGFPALAGLQNAVGSSEEKAADKAEGGPF -------------------------------------------------------------- >71278_71278_8_RAB2A-CHD7_RAB2A_chr8_61484672_ENST00000531289_CHD7_chr8_61693559_ENST00000524602_length(transcript)=2109nt_BP=386nt AGAACTTCCGGGTCGGCGCGGAGGCGGGGCGGAGGCGCCGCGGCGGCTGTTATTGTTCGGCTGGGCTCGGTCGGGCGCTGTCTCCCTCGG CTCTGCGGGTGTCAGTTCGTCCGGCTTCCTCACAGCCCCTCACTCCCGGCGGCTGACAGCAGCAGCGGCGGCGGCGGGCGGCGCCTGGCG TTTCGAGGCTGAGCGGCACCGGGGTTGGGGCGCGGAGGAGGAGCAGCAGCGGGAGGAGGAGCCGTGTGCCCTGGCACTGAGCGGCCGCGG CCATGGCGTACGCCTATCTCTTCAAGTACATCATAATCGGCGACACAGGTGTAGAGTTCGGTGCTCGAATGATAACTATTGATGGGAAAC AGATAAAACTTCAGATATGGGATACGCATTCCCCGTCGGAGCCCTTTCTAGAGAAACCAGTGCCGGATATGACTCAGAAACCGAAACAGA AACGACATAGATGTCGAAACCCTAATAAATTGGATATAAACACTTTGACAGGAGAAGAAAGGGTGCCTGTTGTCAATAAACGAAATGGGA AGAAGATGGGTGGAGCTATGGCGCCTCCAATGAAGGATCTACCCAGGTGGCTGGAAGAAAATCCTGAATTTGCAGTTGCTCCAGACTGGA CTGATATAGTTAAGCAGTCTGGTTTTGTTCCTGAGTCGATGTTTGACCGCCTTCTCACTGGGCCTGTAGTGCGGGGAGAGGGAGCGAGCA GAAGAGGAAGAAGGCCCAAAAGTGAGATCGCCAGAGCAGCCGCGGCCGCCGCTGCTGTGGCCTCCACGTCAGGGATCAACCCTTTGCTGG TGAACAGCCTGTTTGCTGGAATGGACCTGACGAGCCTTCAGAATCTCCAGAATCTCCAGTCGCTCCAGCTGGCAGGCCTCATGGGCTTCC CTCCAGGACTGGCAACAGCTGCCACCGCCGGAGGCGATGCGAAGAACCCTGCTGCTGTGCTGCCCCTGATGCTGCCAGGAATGGCGGGCC TGCCCAACGTGTTTGGCTTGGGCGGGCTGTTGAATAACCCTCTGTCAGCTGCTACTGGAAACACCACTACTGCTTCTAGTCAAGGAGAAC CGGAAGACAGCACTTCAAAAGGAGAGGAGAAAGGAAATGAGAATGAAGACGAGAACAAAGACTCTGAGAAAAGCACAGATGCTGTTTCGG CTGCTGACTCTGCGAATGGATCTGTTGGTGCTGCTACTGCCCCGGCTGGATTGCCCTCAAACCCGCTAGCCTTCAACCCTTTCCTCCTGT CCACAATGGCCCCGGGCCTCTTCTACCCATCCATGTTTCTACCTCCAGGACTGGGGGGATTGACGCTGCCTGGGTTCCCAGCATTGGCAG GACTTCAGAATGCCGTGGGCTCCAGCGAAGAAAAGGCTGCTGACAAGGCTGAGGGAGGACCCTTTAAAGATGGAGAGACCCTTGAAGGCA GCGATGCCGAGGAGAGCCTGGATAAGACTGCAGAGTCCTCCCTCTTAGAAGACGAAATAGCACAGGGTGAAGAGCTAGACTCACTTGATG GGGGGGATGAAATAGAAAACAATGAAAATGATGAATAACCAGTACCAGTTCCAGTTCAAGTGTTTAAAACTTTTGACAAGTGGTAGTCCT ACTGTTTACACTCACAGTTAATGTTCATACCTAGTTTTATAAGCTGTTCTGTAACATAGTGTAGCAAAAAAAAAAGTTCAAGTCATGTTA TACAGGTGTGTCAAAAGGTATCTTGGTCATTAAGTATTGTGCAGTGCATTATTTATTATCCCTAGGAGAGATGAAATTTGAGAGGTGATC ATGTCTTTTTAAGGAAACTTACATAATGCTCTGCTTTTTTTTTTTCTCTTGGTACCATTGGTATTATAATAAAGAGCAATTTGTAACTGA GTGGCACTAATGGAAGAAAGTGCTGCTCAAAGGAAGTATGAAGTTATATATTTAATTTTTTAATTTTAATTTTTAATTTTTTTGCTGTGA AGGTCAAGCTGAAATTTACCATACATATCATACTTGCTCATTTGTTTCCCTTTTTGACTGTATGGGGGTTCCCACACTCGTGCATACACA >71278_71278_8_RAB2A-CHD7_RAB2A_chr8_61484672_ENST00000531289_CHD7_chr8_61693559_ENST00000524602_length(amino acids)=431AA_BP=0 MAYAYLFKYIIIGDTGVEFGARMITIDGKQIKLQIWDTHSPSEPFLEKPVPDMTQKPKQKRHRCRNPNKLDINTLTGEERVPVVNKRNGK KMGGAMAPPMKDLPRWLEENPEFAVAPDWTDIVKQSGFVPESMFDRLLTGPVVRGEGASRRGRRPKSEIARAAAAAAAVASTSGINPLLV NSLFAGMDLTSLQNLQNLQSLQLAGLMGFPPGLATAATAGGDAKNPAAVLPLMLPGMAGLPNVFGLGGLLNNPLSAATGNTTTASSQGEP EDSTSKGEEKGNENEDENKDSEKSTDAVSAADSANGSVGAATAPAGLPSNPLAFNPFLLSTMAPGLFYPSMFLPPGLGGLTLPGFPALAG -------------------------------------------------------------- >71278_71278_9_RAB2A-CHD7_RAB2A_chr8_61484672_ENST00000531289_CHD7_chr8_61693559_ENST00000525508_length(transcript)=3498nt_BP=386nt AGAACTTCCGGGTCGGCGCGGAGGCGGGGCGGAGGCGCCGCGGCGGCTGTTATTGTTCGGCTGGGCTCGGTCGGGCGCTGTCTCCCTCGG CTCTGCGGGTGTCAGTTCGTCCGGCTTCCTCACAGCCCCTCACTCCCGGCGGCTGACAGCAGCAGCGGCGGCGGCGGGCGGCGCCTGGCG TTTCGAGGCTGAGCGGCACCGGGGTTGGGGCGCGGAGGAGGAGCAGCAGCGGGAGGAGGAGCCGTGTGCCCTGGCACTGAGCGGCCGCGG CCATGGCGTACGCCTATCTCTTCAAGTACATCATAATCGGCGACACAGGTGTAGAGTTCGGTGCTCGAATGATAACTATTGATGGGAAAC AGATAAAACTTCAGATATGGGATACGCATTCCCCGTCGGAGCCCTTTCTAGAGAAACCAGTGCCGGATATGACTCAGGTTAGTGGACCGA ATGCTCAGCTAGTGAAGAGTGATGATTACCTGCCATCAATAGAACAGCAGCCACAACAAAAGAAGAAGAAAAAGAAAAACAACCACATTG TAGCAGAGGATCCCAGTAAAGGTTTTGGTAAAGATGACTTCCCTGGTGGGGTAGATAACCAAGAACTAAATAGGAACTCACTGGATGGGT CCCAAGAAGAAAAAAAGAAAAAGAAAAGGTCAAAGGCAAAAAAAGACCCGAAGGAACCGAAAGAACCCAAGGAGAAAAAAGAGCCCAAGG AACCCAAGACCCCGAAAGCCCCTAAGATTCCCAAAGAGCCAAAGGAAAAGAAAGCAAAAACTGCCACGCCAAAACCCAAATCCAGCAAAA AGTCAAGTAATAAGAAACCTGACTCAGAAGCAAGTGCTTTGAAGAAAAAGGTCAACAAGGGAAAAACAGAAGGTTCTGAAAATTCAGACT TAGACAAAACACCCCCACCATCTCCTCCTCCTGAAGAAGATGAGGACCCAGGTGTTCAGAAGAGACGGTCCAGCAGACAGGTGAAGAGAA AGCGCTACACTGAAGACCTGGAGTTCAAGATTTCTGATGAGGAGGCAGATGATGCAGATGCTGCTGGGAGGGATTCCCCCTCCAACACCT CCCAGTCAGAACAGCAGGAATCTGTTGATGCAGAAGGCCCAGTGGTAGAAAAAATTATGAGCAGTCGTTCAGTAAAAAAGCAGAAGGAAT CTGGAGAGGAGGTAGAAATTGAGGAATTCTATGTGAAATACAAAAACTTCTCTTATCTTCATTGTCAGTGGGCATCTATAGAAGATCTGG AAAAAGATAAGAGAATTCAGCAAAAAATTAAACGATTTAAGGCAAAGCAGGGCCAGAACAAGTTCCTTTCAGAGATTGAGGATGAGCTTT TTAATCCAGATTATGTGGAGGTTGACCGGATAATGGACTTTGCACGTAGCACAGATGACCGGGGAGAGCCTGTGACTCACTATCTGGTGA AGTGGTGTTCACTTCCTTATGAAGACAGCACGTGGGAGCGGAGGCAGGACATAGATCAAGCAAAGATCGAGGAGTTTGAGAAACTAATGT CCAGGGAGCCGGAAACAGAGCGTGTGGAGCGACCTCCTGCTGATGATTGGAAGAAATCGGAGAGTTCCAGGGAGTATAAAAACAATAACA AACTCAGGGAATACCAGTTGGAGGGAGTAAACTGGCTACTTTTCAATTGGTACAACATGCGAAACTGCATTTTAGCAGATGAAATGGGTT TGGGAAAAACTATCCAGTCCATTACATTTCTCTATGAGATATATTTGAAAGGAATCCATGGCCCTTTTTTAGTAATTGCCCCATTGTCCA CAATCCCCAACTGGGAAAGGGAATTCCGAACCTGGACAGAGTTGAACGTGGTTGTGTATCATGGGAGTCAAGCTAGTCGTCGGACCATTC AGTTGTATGAAATGTACTTCAAAGATCCCCAGGGTCGAGTGATAAAGGGGTCCTATAAGTTTCATGCCATCATCACTACATTTGAGATGA TTTTGACTGATTGTCCTGAGCTGCGGAATATTCCATGGCGCTGTGTAGTCATTGATGAAGCCCACAGGCTGAAGAACAGGAACTGCAAGC TGTTGGAGGGACTCAAGATGATGGACTTGGTCAGTGACCATATTGGTGATTGCACTGAACCTGAATAGAATTGTTGCTGACTTGATAGTC CCGTTGCTCAGAATTTGATGCCTGTAAACAGTATTTGAAAAGCTTGTCAAATATTGTGATATATTCTCTGGCACTTTCAGTTATTCAAAA GTTGTTGCCTTTTGGATTCTTACATTGTTGGCTAGTGTCTGTTAAACAGTTGTATTATAGCAGAGTGTAATCATGATAGTTTCACTAAAG TGAGTTTCAAGTATTTGTTTTACCCTTTGTTCATAAATACAGGTTGATCATACCAAATACAAAAATCCCAGAATCCAAAACGTTTTGAGT ACCCACATAATGCTAAAAGGAAATGCTCATTGGAGCATTTTGGATTTTGGATTTTCTCATTTGGGATGTTCAACCCGTAAGTATAAATGC AGATATTCCAAAATCTAAAAATATCTGAAATCTGAAACACTCTGGTCCCAAGAATTTTGGATAAGGGATACTTAACCTGTACTGCCATTT CATTAACTGTTGGGCCAAGCTTTACTTCAGTGATGATAGTCCAGTTATTTTTCAGTGCTCATAGGTTTTGCCATACTGTGGCCAGCAGGA CTTGTAGATGCAAGTTCTCAATGAGTTGGGTAGGATATCTGGGGTTGGTTTAGTTCGCACAGATGCTTAGAAGTTTGGGGCATTACAGTG CCTCAGATTTGATCTGGAGTTTTACACCACACTTATCCCATAGTCTTCCAGCTTCCCAAGAGATGATCAGGTCTTCCTGATTAGATTTTC TAGATTTTTTTTTCAGCAGGAGCATCATGGAATAACATATCGTAGGAGTAGAAGGATTTGATTTATTTTCTGTCTGATACTGCTGTGTGT GATTTCCTAGTGGGAATTGCAACATGACCTGTCATCCTCAGGCTTCTTTTCACTCCATAGTTTATATAGTGGTTATGATCACTTATATTT TATTTTTAATGTACATTTGGAAAGCAAAGCTCCTGTCATTTAGCATGCCTTGGATGATTTGATGAGTTTCACGGAAGTACAAAAAGGGTT TCAAAGTATTTTTAATGCTAATTTCTGCAGGCTAATTTGATCTTTTGTTAACTGAGAGTTTGAGATGAGAAGGAGTGTTCTGTATATTCA TGGCCATATGTTTTTAGCTGAAGACTGGTATTACCAAAAAACACCTAAAAGCTTTTTGTTGCAGCTGATTCTCTGAAAGAGCAGCTTATT TTATTCTTAAAGAGATTAGAATTGCCAGCTATGCTTTTAGTTTAAAACAAACAAAATCTAGTTTTGCTTAAAGGAAAAAGTCTGACTGAA >71278_71278_9_RAB2A-CHD7_RAB2A_chr8_61484672_ENST00000531289_CHD7_chr8_61693559_ENST00000525508_length(amino acids)=621AA_BP=123 MAYAYLFKYIIIGDTGVEFGARMITIDGKQIKLQIWDTHSPSEPFLEKPVPDMTQVSGPNAQLVKSDDYLPSIEQQPQQKKKKKKNNHIV AEDPSKGFGKDDFPGGVDNQELNRNSLDGSQEEKKKKKRSKAKKDPKEPKEPKEKKEPKEPKTPKAPKIPKEPKEKKAKTATPKPKSSKK SSNKKPDSEASALKKKVNKGKTEGSENSDLDKTPPPSPPPEEDEDPGVQKRRSSRQVKRKRYTEDLEFKISDEEADDADAAGRDSPSNTS QSEQQESVDAEGPVVEKIMSSRSVKKQKESGEEVEIEEFYVKYKNFSYLHCQWASIEDLEKDKRIQQKIKRFKAKQGQNKFLSEIEDELF NPDYVEVDRIMDFARSTDDRGEPVTHYLVKWCSLPYEDSTWERRQDIDQAKIEEFEKLMSREPETERVERPPADDWKKSESSREYKNNNK LREYQLEGVNWLLFNWYNMRNCILADEMGLGKTIQSITFLYEIYLKGIHGPFLVIAPLSTIPNWEREFRTWTELNVVVYHGSQASRRTIQ -------------------------------------------------------------- |
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Fusion Gene PPI Analysis for RAB2A-CHD7 |
Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in |
Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
- Retained PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
- Lost PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
- Retained PPIs, but lost function due to frame-shift fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs for RAB2A-CHD7 |
Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for RAB2A-CHD7 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |