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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:ECHDC2-GTF2I (FusionGDB2 ID:HG55268TG2969) |
Fusion Gene Summary for ECHDC2-GTF2I |
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Fusion gene information | Fusion gene name: ECHDC2-GTF2I | Fusion gene ID: hg55268tg2969 | Hgene | Tgene | Gene symbol | ECHDC2 | GTF2I | Gene ID | 55268 | 2969 |
Gene name | enoyl-CoA hydratase domain containing 2 | general transcription factor IIi | |
Synonyms | - | BAP135|BTKAP1|DIWS|GTFII-I|IB291|SPIN|TFII-I|WBS|WBSCR6 | |
Cytomap | ('ECHDC2')('GTF2I') 1p32.3 | 7q11.23 | |
Type of gene | protein-coding | protein-coding | |
Description | enoyl-CoA hydratase domain-containing protein 2, mitochondrialenoyl Coenzyme A hydratase domain containing 2 | general transcription factor II-IBTK-associated protein, 135kDBruton tyrosine kinase-associated protein 135SRF-Phox1-interacting proteinWilliams-Beuren syndrome chromosome region 6 | |
Modification date | 20200313 | 20200313 | |
UniProtAcc | Q86YB7 | . | |
Ensembl transtripts involved in fusion gene | ENST00000358358, ENST00000371522, ENST00000536120, ENST00000541281, ENST00000480312, | ||
Fusion gene scores | * DoF score | 12 X 8 X 6=576 | 21 X 20 X 13=5460 |
# samples | 12 | 25 | |
** MAII score | log2(12/576*10)=-2.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(25/5460*10)=-4.44890095114513 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: ECHDC2 [Title/Abstract] AND GTF2I [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | ECHDC2(53373539)-GTF2I(74160675), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. | ECHDC2-GTF2I 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. ECHDC2-GTF2I 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. ECHDC2-GTF2I 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. ECHDC2-GTF2I 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. ECHDC2-GTF2I seems lost the major protein functional domain in Tgene partner, which is a epigenetic factor due to the frame-shifted ORF. ECHDC2-GTF2I seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF. ECHDC2-GTF2I seems lost the major protein functional domain in Tgene partner, which is a transcription factor due to the frame-shifted 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 |
Tgene | GTF2I | GO:0016525 | negative regulation of angiogenesis | 19242469 |
![]() * 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 | ACC | TCGA-OR-A5J6 | ECHDC2 | chr1 | 53373539 | - | GTF2I | chr7 | 74160675 | + |
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Fusion Gene ORF analysis for ECHDC2-GTF2I |
![]() * 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 | ENST00000358358 | ENST00000438130 | ECHDC2 | chr1 | 53373539 | - | GTF2I | chr7 | 74160675 | + |
5CDS-3UTR | ENST00000371522 | ENST00000438130 | ECHDC2 | chr1 | 53373539 | - | GTF2I | chr7 | 74160675 | + |
5CDS-3UTR | ENST00000536120 | ENST00000438130 | ECHDC2 | chr1 | 53373539 | - | GTF2I | chr7 | 74160675 | + |
5CDS-3UTR | ENST00000541281 | ENST00000438130 | ECHDC2 | chr1 | 53373539 | - | GTF2I | chr7 | 74160675 | + |
5CDS-intron | ENST00000358358 | ENST00000443166 | ECHDC2 | chr1 | 53373539 | - | GTF2I | chr7 | 74160675 | + |
5CDS-intron | ENST00000371522 | ENST00000443166 | ECHDC2 | chr1 | 53373539 | - | GTF2I | chr7 | 74160675 | + |
5CDS-intron | ENST00000536120 | ENST00000443166 | ECHDC2 | chr1 | 53373539 | - | GTF2I | chr7 | 74160675 | + |
5CDS-intron | ENST00000541281 | ENST00000443166 | ECHDC2 | chr1 | 53373539 | - | GTF2I | chr7 | 74160675 | + |
Frame-shift | ENST00000536120 | ENST00000324896 | ECHDC2 | chr1 | 53373539 | - | GTF2I | chr7 | 74160675 | + |
Frame-shift | ENST00000536120 | ENST00000346152 | ECHDC2 | chr1 | 53373539 | - | GTF2I | chr7 | 74160675 | + |
Frame-shift | ENST00000536120 | ENST00000353920 | ECHDC2 | chr1 | 53373539 | - | GTF2I | chr7 | 74160675 | + |
Frame-shift | ENST00000536120 | ENST00000416070 | ECHDC2 | chr1 | 53373539 | - | GTF2I | chr7 | 74160675 | + |
In-frame | ENST00000358358 | ENST00000324896 | ECHDC2 | chr1 | 53373539 | - | GTF2I | chr7 | 74160675 | + |
In-frame | ENST00000358358 | ENST00000346152 | ECHDC2 | chr1 | 53373539 | - | GTF2I | chr7 | 74160675 | + |
In-frame | ENST00000358358 | ENST00000353920 | ECHDC2 | chr1 | 53373539 | - | GTF2I | chr7 | 74160675 | + |
In-frame | ENST00000358358 | ENST00000416070 | ECHDC2 | chr1 | 53373539 | - | GTF2I | chr7 | 74160675 | + |
In-frame | ENST00000371522 | ENST00000324896 | ECHDC2 | chr1 | 53373539 | - | GTF2I | chr7 | 74160675 | + |
In-frame | ENST00000371522 | ENST00000346152 | ECHDC2 | chr1 | 53373539 | - | GTF2I | chr7 | 74160675 | + |
In-frame | ENST00000371522 | ENST00000353920 | ECHDC2 | chr1 | 53373539 | - | GTF2I | chr7 | 74160675 | + |
In-frame | ENST00000371522 | ENST00000416070 | ECHDC2 | chr1 | 53373539 | - | GTF2I | chr7 | 74160675 | + |
In-frame | ENST00000541281 | ENST00000324896 | ECHDC2 | chr1 | 53373539 | - | GTF2I | chr7 | 74160675 | + |
In-frame | ENST00000541281 | ENST00000346152 | ECHDC2 | chr1 | 53373539 | - | GTF2I | chr7 | 74160675 | + |
In-frame | ENST00000541281 | ENST00000353920 | ECHDC2 | chr1 | 53373539 | - | GTF2I | chr7 | 74160675 | + |
In-frame | ENST00000541281 | ENST00000416070 | ECHDC2 | chr1 | 53373539 | - | GTF2I | chr7 | 74160675 | + |
intron-3CDS | ENST00000480312 | ENST00000324896 | ECHDC2 | chr1 | 53373539 | - | GTF2I | chr7 | 74160675 | + |
intron-3CDS | ENST00000480312 | ENST00000346152 | ECHDC2 | chr1 | 53373539 | - | GTF2I | chr7 | 74160675 | + |
intron-3CDS | ENST00000480312 | ENST00000353920 | ECHDC2 | chr1 | 53373539 | - | GTF2I | chr7 | 74160675 | + |
intron-3CDS | ENST00000480312 | ENST00000416070 | ECHDC2 | chr1 | 53373539 | - | GTF2I | chr7 | 74160675 | + |
intron-3UTR | ENST00000480312 | ENST00000438130 | ECHDC2 | chr1 | 53373539 | - | GTF2I | chr7 | 74160675 | + |
intron-intron | ENST00000480312 | ENST00000443166 | ECHDC2 | chr1 | 53373539 | - | GTF2I | chr7 | 74160675 | + |
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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) |
ENST00000371522 | ECHDC2 | chr1 | 53373539 | - | ENST00000324896 | GTF2I | chr7 | 74160675 | + | 2624 | 458 | 94 | 1461 | 455 |
ENST00000371522 | ECHDC2 | chr1 | 53373539 | - | ENST00000353920 | GTF2I | chr7 | 74160675 | + | 2624 | 458 | 94 | 1461 | 455 |
ENST00000371522 | ECHDC2 | chr1 | 53373539 | - | ENST00000346152 | GTF2I | chr7 | 74160675 | + | 2624 | 458 | 94 | 1461 | 455 |
ENST00000371522 | ECHDC2 | chr1 | 53373539 | - | ENST00000416070 | GTF2I | chr7 | 74160675 | + | 2628 | 458 | 94 | 1461 | 455 |
ENST00000358358 | ECHDC2 | chr1 | 53373539 | - | ENST00000324896 | GTF2I | chr7 | 74160675 | + | 2583 | 417 | 53 | 1420 | 455 |
ENST00000358358 | ECHDC2 | chr1 | 53373539 | - | ENST00000353920 | GTF2I | chr7 | 74160675 | + | 2583 | 417 | 53 | 1420 | 455 |
ENST00000358358 | ECHDC2 | chr1 | 53373539 | - | ENST00000346152 | GTF2I | chr7 | 74160675 | + | 2583 | 417 | 53 | 1420 | 455 |
ENST00000358358 | ECHDC2 | chr1 | 53373539 | - | ENST00000416070 | GTF2I | chr7 | 74160675 | + | 2587 | 417 | 53 | 1420 | 455 |
ENST00000541281 | ECHDC2 | chr1 | 53373539 | - | ENST00000324896 | GTF2I | chr7 | 74160675 | + | 2762 | 596 | 346 | 1599 | 417 |
ENST00000541281 | ECHDC2 | chr1 | 53373539 | - | ENST00000353920 | GTF2I | chr7 | 74160675 | + | 2762 | 596 | 346 | 1599 | 417 |
ENST00000541281 | ECHDC2 | chr1 | 53373539 | - | ENST00000346152 | GTF2I | chr7 | 74160675 | + | 2762 | 596 | 346 | 1599 | 417 |
ENST00000541281 | ECHDC2 | chr1 | 53373539 | - | ENST00000416070 | GTF2I | chr7 | 74160675 | + | 2766 | 596 | 346 | 1599 | 417 |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
ENST00000371522 | ENST00000324896 | ECHDC2 | chr1 | 53373539 | - | GTF2I | chr7 | 74160675 | + | 0.000492833 | 0.9995072 |
ENST00000371522 | ENST00000353920 | ECHDC2 | chr1 | 53373539 | - | GTF2I | chr7 | 74160675 | + | 0.000492833 | 0.9995072 |
ENST00000371522 | ENST00000346152 | ECHDC2 | chr1 | 53373539 | - | GTF2I | chr7 | 74160675 | + | 0.000492833 | 0.9995072 |
ENST00000371522 | ENST00000416070 | ECHDC2 | chr1 | 53373539 | - | GTF2I | chr7 | 74160675 | + | 0.000485561 | 0.99951446 |
ENST00000358358 | ENST00000324896 | ECHDC2 | chr1 | 53373539 | - | GTF2I | chr7 | 74160675 | + | 0.000424736 | 0.9995753 |
ENST00000358358 | ENST00000353920 | ECHDC2 | chr1 | 53373539 | - | GTF2I | chr7 | 74160675 | + | 0.000424736 | 0.9995753 |
ENST00000358358 | ENST00000346152 | ECHDC2 | chr1 | 53373539 | - | GTF2I | chr7 | 74160675 | + | 0.000424736 | 0.9995753 |
ENST00000358358 | ENST00000416070 | ECHDC2 | chr1 | 53373539 | - | GTF2I | chr7 | 74160675 | + | 0.000418027 | 0.999582 |
ENST00000541281 | ENST00000324896 | ECHDC2 | chr1 | 53373539 | - | GTF2I | chr7 | 74160675 | + | 0.000543628 | 0.99945635 |
ENST00000541281 | ENST00000353920 | ECHDC2 | chr1 | 53373539 | - | GTF2I | chr7 | 74160675 | + | 0.000543628 | 0.99945635 |
ENST00000541281 | ENST00000346152 | ECHDC2 | chr1 | 53373539 | - | GTF2I | chr7 | 74160675 | + | 0.000543628 | 0.99945635 |
ENST00000541281 | ENST00000416070 | ECHDC2 | chr1 | 53373539 | - | GTF2I | chr7 | 74160675 | + | 0.000533621 | 0.99946636 |
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Fusion Genomic Features for ECHDC2-GTF2I |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
ECHDC2 | chr1 | 53373539 | - | GTF2I | chr7 | 74160675 | + | 0.010910481 | 0.98908955 |
ECHDC2 | chr1 | 53373539 | - | GTF2I | chr7 | 74160675 | + | 0.010910481 | 0.98908955 |
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Fusion Protein Features for ECHDC2-GTF2I |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr1:53373539/chr7:74160675) - 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 |
ECHDC2 | . |
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. |
![]() * Minus value of BPloci means that the break pointn is located before the CDS. |
- In-frame and retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
Tgene | GTF2I | chr1:53373539 | chr7:74160675 | ENST00000324896 | 21 | 35 | 692_695 | 664 | 1252.6666666666667 | Compositional bias | Note=Poly-Asn | |
Tgene | GTF2I | chr1:53373539 | chr7:74160675 | ENST00000346152 | 20 | 34 | 692_695 | 643 | 1256.0 | Compositional bias | Note=Poly-Asn | |
Tgene | GTF2I | chr1:53373539 | chr7:74160675 | ENST00000353920 | 20 | 34 | 692_695 | 644 | 1257.0 | Compositional bias | Note=Poly-Asn | |
Tgene | GTF2I | chr1:53373539 | chr7:74160675 | ENST00000416070 | 19 | 33 | 692_695 | 623 | 1237.3333333333333 | Compositional bias | Note=Poly-Asn | |
Tgene | GTF2I | chr1:53373539 | chr7:74160675 | ENST00000324896 | 21 | 35 | 724_818 | 664 | 1252.6666666666667 | Repeat | Note=GTF2I-like 5 | |
Tgene | GTF2I | chr1:53373539 | chr7:74160675 | ENST00000324896 | 21 | 35 | 859_953 | 664 | 1252.6666666666667 | Repeat | Note=GTF2I-like 6 | |
Tgene | GTF2I | chr1:53373539 | chr7:74160675 | ENST00000346152 | 20 | 34 | 724_818 | 643 | 1256.0 | Repeat | Note=GTF2I-like 5 | |
Tgene | GTF2I | chr1:53373539 | chr7:74160675 | ENST00000346152 | 20 | 34 | 859_953 | 643 | 1256.0 | Repeat | Note=GTF2I-like 6 | |
Tgene | GTF2I | chr1:53373539 | chr7:74160675 | ENST00000353920 | 20 | 34 | 724_818 | 644 | 1257.0 | Repeat | Note=GTF2I-like 5 | |
Tgene | GTF2I | chr1:53373539 | chr7:74160675 | ENST00000353920 | 20 | 34 | 859_953 | 644 | 1257.0 | Repeat | Note=GTF2I-like 6 | |
Tgene | GTF2I | chr1:53373539 | chr7:74160675 | ENST00000416070 | 19 | 33 | 724_818 | 623 | 1237.3333333333333 | Repeat | Note=GTF2I-like 5 | |
Tgene | GTF2I | chr1:53373539 | chr7:74160675 | ENST00000416070 | 19 | 33 | 859_953 | 623 | 1237.3333333333333 | Repeat | Note=GTF2I-like 6 |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
Tgene | GTF2I | chr1:53373539 | chr7:74160675 | ENST00000324896 | 21 | 35 | 320_327 | 664 | 1252.6666666666667 | Motif | Nuclear localization signal | |
Tgene | GTF2I | chr1:53373539 | chr7:74160675 | ENST00000346152 | 20 | 34 | 320_327 | 643 | 1256.0 | Motif | Nuclear localization signal | |
Tgene | GTF2I | chr1:53373539 | chr7:74160675 | ENST00000353920 | 20 | 34 | 320_327 | 644 | 1257.0 | Motif | Nuclear localization signal | |
Tgene | GTF2I | chr1:53373539 | chr7:74160675 | ENST00000416070 | 19 | 33 | 320_327 | 623 | 1237.3333333333333 | Motif | Nuclear localization signal | |
Tgene | GTF2I | chr1:53373539 | chr7:74160675 | ENST00000324896 | 21 | 35 | 103_197 | 664 | 1252.6666666666667 | Repeat | Note=GTF2I-like 1 | |
Tgene | GTF2I | chr1:53373539 | chr7:74160675 | ENST00000324896 | 21 | 35 | 352_446 | 664 | 1252.6666666666667 | Repeat | Note=GTF2I-like 2 | |
Tgene | GTF2I | chr1:53373539 | chr7:74160675 | ENST00000324896 | 21 | 35 | 457_551 | 664 | 1252.6666666666667 | Repeat | Note=GTF2I-like 3 | |
Tgene | GTF2I | chr1:53373539 | chr7:74160675 | ENST00000324896 | 21 | 35 | 562_656 | 664 | 1252.6666666666667 | Repeat | Note=GTF2I-like 4 | |
Tgene | GTF2I | chr1:53373539 | chr7:74160675 | ENST00000346152 | 20 | 34 | 103_197 | 643 | 1256.0 | Repeat | Note=GTF2I-like 1 | |
Tgene | GTF2I | chr1:53373539 | chr7:74160675 | ENST00000346152 | 20 | 34 | 352_446 | 643 | 1256.0 | Repeat | Note=GTF2I-like 2 | |
Tgene | GTF2I | chr1:53373539 | chr7:74160675 | ENST00000346152 | 20 | 34 | 457_551 | 643 | 1256.0 | Repeat | Note=GTF2I-like 3 | |
Tgene | GTF2I | chr1:53373539 | chr7:74160675 | ENST00000346152 | 20 | 34 | 562_656 | 643 | 1256.0 | Repeat | Note=GTF2I-like 4 | |
Tgene | GTF2I | chr1:53373539 | chr7:74160675 | ENST00000353920 | 20 | 34 | 103_197 | 644 | 1257.0 | Repeat | Note=GTF2I-like 1 | |
Tgene | GTF2I | chr1:53373539 | chr7:74160675 | ENST00000353920 | 20 | 34 | 352_446 | 644 | 1257.0 | Repeat | Note=GTF2I-like 2 | |
Tgene | GTF2I | chr1:53373539 | chr7:74160675 | ENST00000353920 | 20 | 34 | 457_551 | 644 | 1257.0 | Repeat | Note=GTF2I-like 3 | |
Tgene | GTF2I | chr1:53373539 | chr7:74160675 | ENST00000353920 | 20 | 34 | 562_656 | 644 | 1257.0 | Repeat | Note=GTF2I-like 4 | |
Tgene | GTF2I | chr1:53373539 | chr7:74160675 | ENST00000416070 | 19 | 33 | 103_197 | 623 | 1237.3333333333333 | Repeat | Note=GTF2I-like 1 | |
Tgene | GTF2I | chr1:53373539 | chr7:74160675 | ENST00000416070 | 19 | 33 | 352_446 | 623 | 1237.3333333333333 | Repeat | Note=GTF2I-like 2 | |
Tgene | GTF2I | chr1:53373539 | chr7:74160675 | ENST00000416070 | 19 | 33 | 457_551 | 623 | 1237.3333333333333 | Repeat | Note=GTF2I-like 3 | |
Tgene | GTF2I | chr1:53373539 | chr7:74160675 | ENST00000416070 | 19 | 33 | 562_656 | 623 | 1237.3333333333333 | Repeat | Note=GTF2I-like 4 |
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Fusion Gene Sequence for ECHDC2-GTF2I |
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>24892_24892_1_ECHDC2-GTF2I_ECHDC2_chr1_53373539_ENST00000358358_GTF2I_chr7_74160675_ENST00000324896_length(transcript)=2583nt_BP=417nt AGCCGAGACGGTGCAGGGCCGGAGAAGCACCTTCACTCCCAGCCTGCGCCCCGATGCTGCGCGTTCTGTGCCTCCTGCGCCCCTGGAGGC CCCTTCGGGCCCGCGGCTGCGCTTCCGACGGGGCGGCCGGGGGCTCAGAGATCCAAGTGCGCGCCCTGGCGGGTCCGGACCAAGGGATCA CTGAGATTCTGATGAACAGACCTTCTGCCCGCAATGCCTTGGGGAATGTCTTCGTCAGTGAGCTGCTGGAAACTCTGGCCCAGCTGCGGG AGGACCGGCAAGTGCGTGTCCTGCTCTTCAGAAGTGGAGTGAAGGGCGTGTTCTGTGCAGGTGCAGACCTGAAGGAGCGGGAACAGATGA GTGAAGCAGAGGTGGGGGTGTTTGTCCAGCGACTCCGGGGCCTGATGAATGACATCGCTTTGCAGTCCCCCAAAAGACCACGAAGTCCTG GGAGTAATTCAAAGGTTCCTGAAATTGAGGTCACCGTGGAAGGCCCTAATAACAACAATCCTCAAACCTCAGCTGTTCGAACCCCGACCC AGACTAACGGTTCTAACGTTCCCTTCAAGCCACGAGGGAGAGAGTTTTCCTTTGAGGCCTGGAATGCCAAAATCACGGACCTAAAACAGA AAGTTGAAAATCTCTTCAATGAGAAATGTGGGGAAGCTCTTGGCCTTAAACAAGCTGTGAAGGTGCCGTTCGCGTTATTTGAGTCTTTCC CGGAAGACTTTTATGTGGAAGGCTTACCTGAGGGTGTGCCATTCCGAAGACCATCGACTTTTGGCATTCCGAGGCTGGAGAAGATACTCA GAAACAAAGCCAAAATTAAGTTCATCATTAAAAAGCCCGAAATGTTTGAGACGGCGATTAAGGAGAGCACCTCCTCTAAGAGCCCTCCCA GAAAAATAAATTCATCACCCAATGTTAATACTACTGCATCAGGTGTTGAAGACCTTAACATCATTCAGGTGACAATTCCAGATGATGATA ATGAAAGACTCTCGAAAGTTGAAAAAGCTAGACAGCTAAGAGAACAAGTGAATGACCTCTTTAGTCGGAAATTTGGTGAAGCTATTGGTA TGGGTTTTCCTGTGAAAGTTCCCTACAGGAAAATCACAATTAACCCTGGCTGTGTGGTGGTTGATGGCATGCCCCCGGGGGTGTCCTTCA AAGCCCCCAGCTACCTGGAAATCAGCTCCATGAGAAGGATCTTAGACTCTGCCGAGTTTATCAAATTCACGGTCATTAGACCATTTCCAG GACTTGTGATTAATAACCAGCTGGTTGATCAGAGTGAGTCAGAAGGCCCCGTGATACAAGAATCAGCTGAACCAAGCCAGTTGGAAGTTC CAGCCACAGAAGAAATAAAAGAGACTGATGGAAGCTCTCAGATCAAGCAAGAACCAGACCCCACGTGGTAGACCTCTTCCCTCCTAGGCT TAAAGTATCAGTGGTTGAGAAGAGCTTTTCGGACCTGTTACTACCCCAAGCTGTGTAATATACTTGTATAACAGAAATACCTTCTATACA AACCTTTTTTTCTACTTTTAGATAGAAATGTCTACTTTTTCAGCAGTTCTGTGAATTAAAGAGCAGAGTGACTGTGGGTCTGGAATGGCT GGTGTACTTGGGAATGTACTATCAGGATTTTACAGCAATGCTGGGAAATGACAGGGAAAATGACAGGAATGAATCTCACCAGATTTTTTA TGTACTCAGCAGAGCCTTGAGTTACGGTGTTTATTTTCCAATCAAGTGAAGATATCTCCTACTTCTCCTACTGGAACATCTCAGCTTCTG CAGTGAAGAAAAATTCCTGTGATAGTTCAGTTCTTTAGTTTTTCTATTTGAAAAAAAAAAATCATTTAAATGATCCTTTGTTCACGGCTC TCCTTAATGACTGAGTGAACAGTTCCTATCTGTATATTTGACTAAACCTTTTCCTAAGCTATCTCTCATGGTTCCTATGTTTTTTTATCA TAATTAAAAGCAAAACCATCTGGATCACCTAACAGTCAGAGGTCAGTATCTCAGCGTGTGAATTATAGAGGAAATACAGAGAGAACCTCT TCCACTTTTACTTTTCGTCCAAATAAAATGCATGGTGTACCAGAAGTTGAAGATCGGGTTGAGGATTGGGGCTAGCTCGATGACACTAAG GCCCCAACATCGCGGGACCTGCTGTGGCGCGGATTCTTAGGAACGCTGTTCTAGCCGGCCCCCTCTCCAGGGGTCGCCGTGGCCGGCATT ATTTCCTAGTTCTTCTTGTAACCCTGAGGTGCCAGCGCGGGGAGTGAGGAGGGGTCAGGGGGCTAAGGATGCAACCTCTGACGTTCTGCG CCTTCCTAGGAGAGTCTTACATGTGTTGAGATTTCACAAGCAATGCGAGTTGTAAAATACCAGCTCTACAAGAAGCTAGGCTCTGTGACG GCATAGTTTTCAGTAGCTTTATCACAATATTCACAATGGAGAATTATATGACATGGTAGCAGAAATAGGCCCTTTTATGTGTTGCTTCTA TTTTACCTCAAATTGTAGATATAGGGTAATCAATAAAATCCATCCATGCCTTTCACACACTAA >24892_24892_1_ECHDC2-GTF2I_ECHDC2_chr1_53373539_ENST00000358358_GTF2I_chr7_74160675_ENST00000324896_length(amino acids)=455AA_BP=204 MLRVLCLLRPWRPLRARGCASDGAAGGSEIQVRALAGPDQGITEILMNRPSARNALGNVFVSELLETLAQLREDRQVRVLLFRSGVKGVF CAGADLKEREQMSEAEVGVFVQRLRGLMNDIALQSPKRPRSPGSNSKVPEIEVTVEGPNNNNPQTSAVRTPTQTNGSNVPFKPRGREFSF EAWNAKITDLKQKVENLFNEKCGEALGLKQAVKVPFALFESFPEDFYVEGLPEGVPFRRPSTFGIPRLEKILRNKAKIKFIIKKPEMFET AIKESTSSKSPPRKINSSPNVNTTASGVEDLNIIQVTIPDDDNERLSKVEKARQLREQVNDLFSRKFGEAIGMGFPVKVPYRKITINPGC VVVDGMPPGVSFKAPSYLEISSMRRILDSAEFIKFTVIRPFPGLVINNQLVDQSESEGPVIQESAEPSQLEVPATEEIKETDGSSQIKQE PDPTW -------------------------------------------------------------- >24892_24892_2_ECHDC2-GTF2I_ECHDC2_chr1_53373539_ENST00000358358_GTF2I_chr7_74160675_ENST00000346152_length(transcript)=2583nt_BP=417nt AGCCGAGACGGTGCAGGGCCGGAGAAGCACCTTCACTCCCAGCCTGCGCCCCGATGCTGCGCGTTCTGTGCCTCCTGCGCCCCTGGAGGC CCCTTCGGGCCCGCGGCTGCGCTTCCGACGGGGCGGCCGGGGGCTCAGAGATCCAAGTGCGCGCCCTGGCGGGTCCGGACCAAGGGATCA CTGAGATTCTGATGAACAGACCTTCTGCCCGCAATGCCTTGGGGAATGTCTTCGTCAGTGAGCTGCTGGAAACTCTGGCCCAGCTGCGGG AGGACCGGCAAGTGCGTGTCCTGCTCTTCAGAAGTGGAGTGAAGGGCGTGTTCTGTGCAGGTGCAGACCTGAAGGAGCGGGAACAGATGA GTGAAGCAGAGGTGGGGGTGTTTGTCCAGCGACTCCGGGGCCTGATGAATGACATCGCTTTGCAGTCCCCCAAAAGACCACGAAGTCCTG GGAGTAATTCAAAGGTTCCTGAAATTGAGGTCACCGTGGAAGGCCCTAATAACAACAATCCTCAAACCTCAGCTGTTCGAACCCCGACCC AGACTAACGGTTCTAACGTTCCCTTCAAGCCACGAGGGAGAGAGTTTTCCTTTGAGGCCTGGAATGCCAAAATCACGGACCTAAAACAGA AAGTTGAAAATCTCTTCAATGAGAAATGTGGGGAAGCTCTTGGCCTTAAACAAGCTGTGAAGGTGCCGTTCGCGTTATTTGAGTCTTTCC CGGAAGACTTTTATGTGGAAGGCTTACCTGAGGGTGTGCCATTCCGAAGACCATCGACTTTTGGCATTCCGAGGCTGGAGAAGATACTCA GAAACAAAGCCAAAATTAAGTTCATCATTAAAAAGCCCGAAATGTTTGAGACGGCGATTAAGGAGAGCACCTCCTCTAAGAGCCCTCCCA GAAAAATAAATTCATCACCCAATGTTAATACTACTGCATCAGGTGTTGAAGACCTTAACATCATTCAGGTGACAATTCCAGATGATGATA ATGAAAGACTCTCGAAAGTTGAAAAAGCTAGACAGCTAAGAGAACAAGTGAATGACCTCTTTAGTCGGAAATTTGGTGAAGCTATTGGTA TGGGTTTTCCTGTGAAAGTTCCCTACAGGAAAATCACAATTAACCCTGGCTGTGTGGTGGTTGATGGCATGCCCCCGGGGGTGTCCTTCA AAGCCCCCAGCTACCTGGAAATCAGCTCCATGAGAAGGATCTTAGACTCTGCCGAGTTTATCAAATTCACGGTCATTAGACCATTTCCAG GACTTGTGATTAATAACCAGCTGGTTGATCAGAGTGAGTCAGAAGGCCCCGTGATACAAGAATCAGCTGAACCAAGCCAGTTGGAAGTTC CAGCCACAGAAGAAATAAAAGAGACTGATGGAAGCTCTCAGATCAAGCAAGAACCAGACCCCACGTGGTAGACCTCTTCCCTCCTAGGCT TAAAGTATCAGTGGTTGAGAAGAGCTTTTCGGACCTGTTACTACCCCAAGCTGTGTAATATACTTGTATAACAGAAATACCTTCTATACA AACCTTTTTTTCTACTTTTAGATAGAAATGTCTACTTTTTCAGCAGTTCTGTGAATTAAAGAGCAGAGTGACTGTGGGTCTGGAATGGCT GGTGTACTTGGGAATGTACTATCAGGATTTTACAGCAATGCTGGGAAATGACAGGGAAAATGACAGGAATGAATCTCACCAGATTTTTTA TGTACTCAGCAGAGCCTTGAGTTACGGTGTTTATTTTCCAATCAAGTGAAGATATCTCCTACTTCTCCTACTGGAACATCTCAGCTTCTG CAGTGAAGAAAAATTCCTGTGATAGTTCAGTTCTTTAGTTTTTCTATTTGAAAAAAAAAAATCATTTAAATGATCCTTTGTTCACGGCTC TCCTTAATGACTGAGTGAACAGTTCCTATCTGTATATTTGACTAAACCTTTTCCTAAGCTATCTCTCATGGTTCCTATGTTTTTTTATCA TAATTAAAAGCAAAACCATCTGGATCACCTAACAGTCAGAGGTCAGTATCTCAGCGTGTGAATTATAGAGGAAATACAGAGAGAACCTCT TCCACTTTTACTTTTCGTCCAAATAAAATGCATGGTGTACCAGAAGTTGAAGATCGGGTTGAGGATTGGGGCTAGCTCGATGACACTAAG GCCCCAACATCGCGGGACCTGCTGTGGCGCGGATTCTTAGGAACGCTGTTCTAGCCGGCCCCCTCTCCAGGGGTCGCCGTGGCCGGCATT ATTTCCTAGTTCTTCTTGTAACCCTGAGGTGCCAGCGCGGGGAGTGAGGAGGGGTCAGGGGGCTAAGGATGCAACCTCTGACGTTCTGCG CCTTCCTAGGAGAGTCTTACATGTGTTGAGATTTCACAAGCAATGCGAGTTGTAAAATACCAGCTCTACAAGAAGCTAGGCTCTGTGACG GCATAGTTTTCAGTAGCTTTATCACAATATTCACAATGGAGAATTATATGACATGGTAGCAGAAATAGGCCCTTTTATGTGTTGCTTCTA TTTTACCTCAAATTGTAGATATAGGGTAATCAATAAAATCCATCCATGCCTTTCACACACTAA >24892_24892_2_ECHDC2-GTF2I_ECHDC2_chr1_53373539_ENST00000358358_GTF2I_chr7_74160675_ENST00000346152_length(amino acids)=455AA_BP=204 MLRVLCLLRPWRPLRARGCASDGAAGGSEIQVRALAGPDQGITEILMNRPSARNALGNVFVSELLETLAQLREDRQVRVLLFRSGVKGVF CAGADLKEREQMSEAEVGVFVQRLRGLMNDIALQSPKRPRSPGSNSKVPEIEVTVEGPNNNNPQTSAVRTPTQTNGSNVPFKPRGREFSF EAWNAKITDLKQKVENLFNEKCGEALGLKQAVKVPFALFESFPEDFYVEGLPEGVPFRRPSTFGIPRLEKILRNKAKIKFIIKKPEMFET AIKESTSSKSPPRKINSSPNVNTTASGVEDLNIIQVTIPDDDNERLSKVEKARQLREQVNDLFSRKFGEAIGMGFPVKVPYRKITINPGC VVVDGMPPGVSFKAPSYLEISSMRRILDSAEFIKFTVIRPFPGLVINNQLVDQSESEGPVIQESAEPSQLEVPATEEIKETDGSSQIKQE PDPTW -------------------------------------------------------------- >24892_24892_3_ECHDC2-GTF2I_ECHDC2_chr1_53373539_ENST00000358358_GTF2I_chr7_74160675_ENST00000353920_length(transcript)=2583nt_BP=417nt AGCCGAGACGGTGCAGGGCCGGAGAAGCACCTTCACTCCCAGCCTGCGCCCCGATGCTGCGCGTTCTGTGCCTCCTGCGCCCCTGGAGGC CCCTTCGGGCCCGCGGCTGCGCTTCCGACGGGGCGGCCGGGGGCTCAGAGATCCAAGTGCGCGCCCTGGCGGGTCCGGACCAAGGGATCA CTGAGATTCTGATGAACAGACCTTCTGCCCGCAATGCCTTGGGGAATGTCTTCGTCAGTGAGCTGCTGGAAACTCTGGCCCAGCTGCGGG AGGACCGGCAAGTGCGTGTCCTGCTCTTCAGAAGTGGAGTGAAGGGCGTGTTCTGTGCAGGTGCAGACCTGAAGGAGCGGGAACAGATGA GTGAAGCAGAGGTGGGGGTGTTTGTCCAGCGACTCCGGGGCCTGATGAATGACATCGCTTTGCAGTCCCCCAAAAGACCACGAAGTCCTG GGAGTAATTCAAAGGTTCCTGAAATTGAGGTCACCGTGGAAGGCCCTAATAACAACAATCCTCAAACCTCAGCTGTTCGAACCCCGACCC AGACTAACGGTTCTAACGTTCCCTTCAAGCCACGAGGGAGAGAGTTTTCCTTTGAGGCCTGGAATGCCAAAATCACGGACCTAAAACAGA AAGTTGAAAATCTCTTCAATGAGAAATGTGGGGAAGCTCTTGGCCTTAAACAAGCTGTGAAGGTGCCGTTCGCGTTATTTGAGTCTTTCC CGGAAGACTTTTATGTGGAAGGCTTACCTGAGGGTGTGCCATTCCGAAGACCATCGACTTTTGGCATTCCGAGGCTGGAGAAGATACTCA GAAACAAAGCCAAAATTAAGTTCATCATTAAAAAGCCCGAAATGTTTGAGACGGCGATTAAGGAGAGCACCTCCTCTAAGAGCCCTCCCA GAAAAATAAATTCATCACCCAATGTTAATACTACTGCATCAGGTGTTGAAGACCTTAACATCATTCAGGTGACAATTCCAGATGATGATA ATGAAAGACTCTCGAAAGTTGAAAAAGCTAGACAGCTAAGAGAACAAGTGAATGACCTCTTTAGTCGGAAATTTGGTGAAGCTATTGGTA TGGGTTTTCCTGTGAAAGTTCCCTACAGGAAAATCACAATTAACCCTGGCTGTGTGGTGGTTGATGGCATGCCCCCGGGGGTGTCCTTCA AAGCCCCCAGCTACCTGGAAATCAGCTCCATGAGAAGGATCTTAGACTCTGCCGAGTTTATCAAATTCACGGTCATTAGACCATTTCCAG GACTTGTGATTAATAACCAGCTGGTTGATCAGAGTGAGTCAGAAGGCCCCGTGATACAAGAATCAGCTGAACCAAGCCAGTTGGAAGTTC CAGCCACAGAAGAAATAAAAGAGACTGATGGAAGCTCTCAGATCAAGCAAGAACCAGACCCCACGTGGTAGACCTCTTCCCTCCTAGGCT TAAAGTATCAGTGGTTGAGAAGAGCTTTTCGGACCTGTTACTACCCCAAGCTGTGTAATATACTTGTATAACAGAAATACCTTCTATACA AACCTTTTTTTCTACTTTTAGATAGAAATGTCTACTTTTTCAGCAGTTCTGTGAATTAAAGAGCAGAGTGACTGTGGGTCTGGAATGGCT GGTGTACTTGGGAATGTACTATCAGGATTTTACAGCAATGCTGGGAAATGACAGGGAAAATGACAGGAATGAATCTCACCAGATTTTTTA TGTACTCAGCAGAGCCTTGAGTTACGGTGTTTATTTTCCAATCAAGTGAAGATATCTCCTACTTCTCCTACTGGAACATCTCAGCTTCTG CAGTGAAGAAAAATTCCTGTGATAGTTCAGTTCTTTAGTTTTTCTATTTGAAAAAAAAAAATCATTTAAATGATCCTTTGTTCACGGCTC TCCTTAATGACTGAGTGAACAGTTCCTATCTGTATATTTGACTAAACCTTTTCCTAAGCTATCTCTCATGGTTCCTATGTTTTTTTATCA TAATTAAAAGCAAAACCATCTGGATCACCTAACAGTCAGAGGTCAGTATCTCAGCGTGTGAATTATAGAGGAAATACAGAGAGAACCTCT TCCACTTTTACTTTTCGTCCAAATAAAATGCATGGTGTACCAGAAGTTGAAGATCGGGTTGAGGATTGGGGCTAGCTCGATGACACTAAG GCCCCAACATCGCGGGACCTGCTGTGGCGCGGATTCTTAGGAACGCTGTTCTAGCCGGCCCCCTCTCCAGGGGTCGCCGTGGCCGGCATT ATTTCCTAGTTCTTCTTGTAACCCTGAGGTGCCAGCGCGGGGAGTGAGGAGGGGTCAGGGGGCTAAGGATGCAACCTCTGACGTTCTGCG CCTTCCTAGGAGAGTCTTACATGTGTTGAGATTTCACAAGCAATGCGAGTTGTAAAATACCAGCTCTACAAGAAGCTAGGCTCTGTGACG GCATAGTTTTCAGTAGCTTTATCACAATATTCACAATGGAGAATTATATGACATGGTAGCAGAAATAGGCCCTTTTATGTGTTGCTTCTA TTTTACCTCAAATTGTAGATATAGGGTAATCAATAAAATCCATCCATGCCTTTCACACACTAA >24892_24892_3_ECHDC2-GTF2I_ECHDC2_chr1_53373539_ENST00000358358_GTF2I_chr7_74160675_ENST00000353920_length(amino acids)=455AA_BP=204 MLRVLCLLRPWRPLRARGCASDGAAGGSEIQVRALAGPDQGITEILMNRPSARNALGNVFVSELLETLAQLREDRQVRVLLFRSGVKGVF CAGADLKEREQMSEAEVGVFVQRLRGLMNDIALQSPKRPRSPGSNSKVPEIEVTVEGPNNNNPQTSAVRTPTQTNGSNVPFKPRGREFSF EAWNAKITDLKQKVENLFNEKCGEALGLKQAVKVPFALFESFPEDFYVEGLPEGVPFRRPSTFGIPRLEKILRNKAKIKFIIKKPEMFET AIKESTSSKSPPRKINSSPNVNTTASGVEDLNIIQVTIPDDDNERLSKVEKARQLREQVNDLFSRKFGEAIGMGFPVKVPYRKITINPGC VVVDGMPPGVSFKAPSYLEISSMRRILDSAEFIKFTVIRPFPGLVINNQLVDQSESEGPVIQESAEPSQLEVPATEEIKETDGSSQIKQE PDPTW -------------------------------------------------------------- >24892_24892_4_ECHDC2-GTF2I_ECHDC2_chr1_53373539_ENST00000358358_GTF2I_chr7_74160675_ENST00000416070_length(transcript)=2587nt_BP=417nt AGCCGAGACGGTGCAGGGCCGGAGAAGCACCTTCACTCCCAGCCTGCGCCCCGATGCTGCGCGTTCTGTGCCTCCTGCGCCCCTGGAGGC CCCTTCGGGCCCGCGGCTGCGCTTCCGACGGGGCGGCCGGGGGCTCAGAGATCCAAGTGCGCGCCCTGGCGGGTCCGGACCAAGGGATCA CTGAGATTCTGATGAACAGACCTTCTGCCCGCAATGCCTTGGGGAATGTCTTCGTCAGTGAGCTGCTGGAAACTCTGGCCCAGCTGCGGG AGGACCGGCAAGTGCGTGTCCTGCTCTTCAGAAGTGGAGTGAAGGGCGTGTTCTGTGCAGGTGCAGACCTGAAGGAGCGGGAACAGATGA GTGAAGCAGAGGTGGGGGTGTTTGTCCAGCGACTCCGGGGCCTGATGAATGACATCGCTTTGCAGTCCCCCAAAAGACCACGAAGTCCTG GGAGTAATTCAAAGGTTCCTGAAATTGAGGTCACCGTGGAAGGCCCTAATAACAACAATCCTCAAACCTCAGCTGTTCGAACCCCGACCC AGACTAACGGTTCTAACGTTCCCTTCAAGCCACGAGGGAGAGAGTTTTCCTTTGAGGCCTGGAATGCCAAAATCACGGACCTAAAACAGA AAGTTGAAAATCTCTTCAATGAGAAATGTGGGGAAGCTCTTGGCCTTAAACAAGCTGTGAAGGTGCCGTTCGCGTTATTTGAGTCTTTCC CGGAAGACTTTTATGTGGAAGGCTTACCTGAGGGTGTGCCATTCCGAAGACCATCGACTTTTGGCATTCCGAGGCTGGAGAAGATACTCA GAAACAAAGCCAAAATTAAGTTCATCATTAAAAAGCCCGAAATGTTTGAGACGGCGATTAAGGAGAGCACCTCCTCTAAGAGCCCTCCCA GAAAAATAAATTCATCACCCAATGTTAATACTACTGCATCAGGTGTTGAAGACCTTAACATCATTCAGGTGACAATTCCAGATGATGATA ATGAAAGACTCTCGAAAGTTGAAAAAGCTAGACAGCTAAGAGAACAAGTGAATGACCTCTTTAGTCGGAAATTTGGTGAAGCTATTGGTA TGGGTTTTCCTGTGAAAGTTCCCTACAGGAAAATCACAATTAACCCTGGCTGTGTGGTGGTTGATGGCATGCCCCCGGGGGTGTCCTTCA AAGCCCCCAGCTACCTGGAAATCAGCTCCATGAGAAGGATCTTAGACTCTGCCGAGTTTATCAAATTCACGGTCATTAGACCATTTCCAG GACTTGTGATTAATAACCAGCTGGTTGATCAGAGTGAGTCAGAAGGCCCCGTGATACAAGAATCAGCTGAACCAAGCCAGTTGGAAGTTC CAGCCACAGAAGAAATAAAAGAGACTGATGGAAGCTCTCAGATCAAGCAAGAACCAGACCCCACGTGGTAGACCTCTTCCCTCCTAGGCT TAAAGTATCAGTGGTTGAGAAGAGCTTTTCGGACCTGTTACTACCCCAAGCTGTGTAATATACTTGTATAACAGAAATACCTTCTATACA AACCTTTTTTTCTACTTTTAGATAGAAATGTCTACTTTTTCAGCAGTTCTGTGAATTAAAGAGCAGAGTGACTGTGGGTCTGGAATGGCT GGTGTACTTGGGAATGTACTATCAGGATTTTACAGCAATGCTGGGAAATGACAGGGAAAATGACAGGAATGAATCTCACCAGATTTTTTA TGTACTCAGCAGAGCCTTGAGTTACGGTGTTTATTTTCCAATCAAGTGAAGATATCTCCTACTTCTCCTACTGGAACATCTCAGCTTCTG CAGTGAAGAAAAATTCCTGTGATAGTTCAGTTCTTTAGTTTTTCTATTTGAAAAAAAAAAATCATTTAAATGATCCTTTGTTCACGGCTC TCCTTAATGACTGAGTGAACAGTTCCTATCTGTATATTTGACTAAACCTTTTCCTAAGCTATCTCTCATGGTTCCTATGTTTTTTTATCA TAATTAAAAGCAAAACCATCTGGATCACCTAACAGTCAGAGGTCAGTATCTCAGCGTGTGAATTATAGAGGAAATACAGAGAGAACCTCT TCCACTTTTACTTTTCGTCCAAATAAAATGCATGGTGTACCAGAAGTTGAAGATCGGGTTGAGGATTGGGGCTAGCTCGATGACACTAAG GCCCCAACATCGCGGGACCTGCTGTGGCGCGGATTCTTAGGAACGCTGTTCTAGCCGGCCCCCTCTCCAGGGGTCGCCGTGGCCGGCATT ATTTCCTAGTTCTTCTTGTAACCCTGAGGTGCCAGCGCGGGGAGTGAGGAGGGGTCAGGGGGCTAAGGATGCAACCTCTGACGTTCTGCG CCTTCCTAGGAGAGTCTTACATGTGTTGAGATTTCACAAGCAATGCGAGTTGTAAAATACCAGCTCTACAAGAAGCTAGGCTCTGTGACG GCATAGTTTTCAGTAGCTTTATCACAATATTCACAATGGAGAATTATATGACATGGTAGCAGAAATAGGCCCTTTTATGTGTTGCTTCTA TTTTACCTCAAATTGTAGATATAGGGTAATCAATAAAATCCATCCATGCCTTTCACACACTAAGTCA >24892_24892_4_ECHDC2-GTF2I_ECHDC2_chr1_53373539_ENST00000358358_GTF2I_chr7_74160675_ENST00000416070_length(amino acids)=455AA_BP=204 MLRVLCLLRPWRPLRARGCASDGAAGGSEIQVRALAGPDQGITEILMNRPSARNALGNVFVSELLETLAQLREDRQVRVLLFRSGVKGVF CAGADLKEREQMSEAEVGVFVQRLRGLMNDIALQSPKRPRSPGSNSKVPEIEVTVEGPNNNNPQTSAVRTPTQTNGSNVPFKPRGREFSF EAWNAKITDLKQKVENLFNEKCGEALGLKQAVKVPFALFESFPEDFYVEGLPEGVPFRRPSTFGIPRLEKILRNKAKIKFIIKKPEMFET AIKESTSSKSPPRKINSSPNVNTTASGVEDLNIIQVTIPDDDNERLSKVEKARQLREQVNDLFSRKFGEAIGMGFPVKVPYRKITINPGC VVVDGMPPGVSFKAPSYLEISSMRRILDSAEFIKFTVIRPFPGLVINNQLVDQSESEGPVIQESAEPSQLEVPATEEIKETDGSSQIKQE PDPTW -------------------------------------------------------------- >24892_24892_5_ECHDC2-GTF2I_ECHDC2_chr1_53373539_ENST00000371522_GTF2I_chr7_74160675_ENST00000324896_length(transcript)=2624nt_BP=458nt GAAGGCTTCGCCCGACGCCGGAACTGCGAGCTCTCAGCGGGAGCCGAGACGGTGCAGGGCCGGAGAAGCACCTTCACTCCCAGCCTGCGC CCCGATGCTGCGCGTTCTGTGCCTCCTGCGCCCCTGGAGGCCCCTTCGGGCCCGCGGCTGCGCTTCCGACGGGGCGGCCGGGGGCTCAGA GATCCAAGTGCGCGCCCTGGCGGGTCCGGACCAAGGGATCACTGAGATTCTGATGAACAGACCTTCTGCCCGCAATGCCTTGGGGAATGT CTTCGTCAGTGAGCTGCTGGAAACTCTGGCCCAGCTGCGGGAGGACCGGCAAGTGCGTGTCCTGCTCTTCAGAAGTGGAGTGAAGGGCGT GTTCTGTGCAGGTGCAGACCTGAAGGAGCGGGAACAGATGAGTGAAGCAGAGGTGGGGGTGTTTGTCCAGCGACTCCGGGGCCTGATGAA TGACATCGCTTTGCAGTCCCCCAAAAGACCACGAAGTCCTGGGAGTAATTCAAAGGTTCCTGAAATTGAGGTCACCGTGGAAGGCCCTAA TAACAACAATCCTCAAACCTCAGCTGTTCGAACCCCGACCCAGACTAACGGTTCTAACGTTCCCTTCAAGCCACGAGGGAGAGAGTTTTC CTTTGAGGCCTGGAATGCCAAAATCACGGACCTAAAACAGAAAGTTGAAAATCTCTTCAATGAGAAATGTGGGGAAGCTCTTGGCCTTAA ACAAGCTGTGAAGGTGCCGTTCGCGTTATTTGAGTCTTTCCCGGAAGACTTTTATGTGGAAGGCTTACCTGAGGGTGTGCCATTCCGAAG ACCATCGACTTTTGGCATTCCGAGGCTGGAGAAGATACTCAGAAACAAAGCCAAAATTAAGTTCATCATTAAAAAGCCCGAAATGTTTGA GACGGCGATTAAGGAGAGCACCTCCTCTAAGAGCCCTCCCAGAAAAATAAATTCATCACCCAATGTTAATACTACTGCATCAGGTGTTGA AGACCTTAACATCATTCAGGTGACAATTCCAGATGATGATAATGAAAGACTCTCGAAAGTTGAAAAAGCTAGACAGCTAAGAGAACAAGT GAATGACCTCTTTAGTCGGAAATTTGGTGAAGCTATTGGTATGGGTTTTCCTGTGAAAGTTCCCTACAGGAAAATCACAATTAACCCTGG CTGTGTGGTGGTTGATGGCATGCCCCCGGGGGTGTCCTTCAAAGCCCCCAGCTACCTGGAAATCAGCTCCATGAGAAGGATCTTAGACTC TGCCGAGTTTATCAAATTCACGGTCATTAGACCATTTCCAGGACTTGTGATTAATAACCAGCTGGTTGATCAGAGTGAGTCAGAAGGCCC CGTGATACAAGAATCAGCTGAACCAAGCCAGTTGGAAGTTCCAGCCACAGAAGAAATAAAAGAGACTGATGGAAGCTCTCAGATCAAGCA AGAACCAGACCCCACGTGGTAGACCTCTTCCCTCCTAGGCTTAAAGTATCAGTGGTTGAGAAGAGCTTTTCGGACCTGTTACTACCCCAA GCTGTGTAATATACTTGTATAACAGAAATACCTTCTATACAAACCTTTTTTTCTACTTTTAGATAGAAATGTCTACTTTTTCAGCAGTTC TGTGAATTAAAGAGCAGAGTGACTGTGGGTCTGGAATGGCTGGTGTACTTGGGAATGTACTATCAGGATTTTACAGCAATGCTGGGAAAT GACAGGGAAAATGACAGGAATGAATCTCACCAGATTTTTTATGTACTCAGCAGAGCCTTGAGTTACGGTGTTTATTTTCCAATCAAGTGA AGATATCTCCTACTTCTCCTACTGGAACATCTCAGCTTCTGCAGTGAAGAAAAATTCCTGTGATAGTTCAGTTCTTTAGTTTTTCTATTT GAAAAAAAAAAATCATTTAAATGATCCTTTGTTCACGGCTCTCCTTAATGACTGAGTGAACAGTTCCTATCTGTATATTTGACTAAACCT TTTCCTAAGCTATCTCTCATGGTTCCTATGTTTTTTTATCATAATTAAAAGCAAAACCATCTGGATCACCTAACAGTCAGAGGTCAGTAT CTCAGCGTGTGAATTATAGAGGAAATACAGAGAGAACCTCTTCCACTTTTACTTTTCGTCCAAATAAAATGCATGGTGTACCAGAAGTTG AAGATCGGGTTGAGGATTGGGGCTAGCTCGATGACACTAAGGCCCCAACATCGCGGGACCTGCTGTGGCGCGGATTCTTAGGAACGCTGT TCTAGCCGGCCCCCTCTCCAGGGGTCGCCGTGGCCGGCATTATTTCCTAGTTCTTCTTGTAACCCTGAGGTGCCAGCGCGGGGAGTGAGG AGGGGTCAGGGGGCTAAGGATGCAACCTCTGACGTTCTGCGCCTTCCTAGGAGAGTCTTACATGTGTTGAGATTTCACAAGCAATGCGAG TTGTAAAATACCAGCTCTACAAGAAGCTAGGCTCTGTGACGGCATAGTTTTCAGTAGCTTTATCACAATATTCACAATGGAGAATTATAT GACATGGTAGCAGAAATAGGCCCTTTTATGTGTTGCTTCTATTTTACCTCAAATTGTAGATATAGGGTAATCAATAAAATCCATCCATGC CTTTCACACACTAA >24892_24892_5_ECHDC2-GTF2I_ECHDC2_chr1_53373539_ENST00000371522_GTF2I_chr7_74160675_ENST00000324896_length(amino acids)=455AA_BP=204 MLRVLCLLRPWRPLRARGCASDGAAGGSEIQVRALAGPDQGITEILMNRPSARNALGNVFVSELLETLAQLREDRQVRVLLFRSGVKGVF CAGADLKEREQMSEAEVGVFVQRLRGLMNDIALQSPKRPRSPGSNSKVPEIEVTVEGPNNNNPQTSAVRTPTQTNGSNVPFKPRGREFSF EAWNAKITDLKQKVENLFNEKCGEALGLKQAVKVPFALFESFPEDFYVEGLPEGVPFRRPSTFGIPRLEKILRNKAKIKFIIKKPEMFET AIKESTSSKSPPRKINSSPNVNTTASGVEDLNIIQVTIPDDDNERLSKVEKARQLREQVNDLFSRKFGEAIGMGFPVKVPYRKITINPGC VVVDGMPPGVSFKAPSYLEISSMRRILDSAEFIKFTVIRPFPGLVINNQLVDQSESEGPVIQESAEPSQLEVPATEEIKETDGSSQIKQE PDPTW -------------------------------------------------------------- >24892_24892_6_ECHDC2-GTF2I_ECHDC2_chr1_53373539_ENST00000371522_GTF2I_chr7_74160675_ENST00000346152_length(transcript)=2624nt_BP=458nt GAAGGCTTCGCCCGACGCCGGAACTGCGAGCTCTCAGCGGGAGCCGAGACGGTGCAGGGCCGGAGAAGCACCTTCACTCCCAGCCTGCGC CCCGATGCTGCGCGTTCTGTGCCTCCTGCGCCCCTGGAGGCCCCTTCGGGCCCGCGGCTGCGCTTCCGACGGGGCGGCCGGGGGCTCAGA GATCCAAGTGCGCGCCCTGGCGGGTCCGGACCAAGGGATCACTGAGATTCTGATGAACAGACCTTCTGCCCGCAATGCCTTGGGGAATGT CTTCGTCAGTGAGCTGCTGGAAACTCTGGCCCAGCTGCGGGAGGACCGGCAAGTGCGTGTCCTGCTCTTCAGAAGTGGAGTGAAGGGCGT GTTCTGTGCAGGTGCAGACCTGAAGGAGCGGGAACAGATGAGTGAAGCAGAGGTGGGGGTGTTTGTCCAGCGACTCCGGGGCCTGATGAA TGACATCGCTTTGCAGTCCCCCAAAAGACCACGAAGTCCTGGGAGTAATTCAAAGGTTCCTGAAATTGAGGTCACCGTGGAAGGCCCTAA TAACAACAATCCTCAAACCTCAGCTGTTCGAACCCCGACCCAGACTAACGGTTCTAACGTTCCCTTCAAGCCACGAGGGAGAGAGTTTTC CTTTGAGGCCTGGAATGCCAAAATCACGGACCTAAAACAGAAAGTTGAAAATCTCTTCAATGAGAAATGTGGGGAAGCTCTTGGCCTTAA ACAAGCTGTGAAGGTGCCGTTCGCGTTATTTGAGTCTTTCCCGGAAGACTTTTATGTGGAAGGCTTACCTGAGGGTGTGCCATTCCGAAG ACCATCGACTTTTGGCATTCCGAGGCTGGAGAAGATACTCAGAAACAAAGCCAAAATTAAGTTCATCATTAAAAAGCCCGAAATGTTTGA GACGGCGATTAAGGAGAGCACCTCCTCTAAGAGCCCTCCCAGAAAAATAAATTCATCACCCAATGTTAATACTACTGCATCAGGTGTTGA AGACCTTAACATCATTCAGGTGACAATTCCAGATGATGATAATGAAAGACTCTCGAAAGTTGAAAAAGCTAGACAGCTAAGAGAACAAGT GAATGACCTCTTTAGTCGGAAATTTGGTGAAGCTATTGGTATGGGTTTTCCTGTGAAAGTTCCCTACAGGAAAATCACAATTAACCCTGG CTGTGTGGTGGTTGATGGCATGCCCCCGGGGGTGTCCTTCAAAGCCCCCAGCTACCTGGAAATCAGCTCCATGAGAAGGATCTTAGACTC TGCCGAGTTTATCAAATTCACGGTCATTAGACCATTTCCAGGACTTGTGATTAATAACCAGCTGGTTGATCAGAGTGAGTCAGAAGGCCC CGTGATACAAGAATCAGCTGAACCAAGCCAGTTGGAAGTTCCAGCCACAGAAGAAATAAAAGAGACTGATGGAAGCTCTCAGATCAAGCA AGAACCAGACCCCACGTGGTAGACCTCTTCCCTCCTAGGCTTAAAGTATCAGTGGTTGAGAAGAGCTTTTCGGACCTGTTACTACCCCAA GCTGTGTAATATACTTGTATAACAGAAATACCTTCTATACAAACCTTTTTTTCTACTTTTAGATAGAAATGTCTACTTTTTCAGCAGTTC TGTGAATTAAAGAGCAGAGTGACTGTGGGTCTGGAATGGCTGGTGTACTTGGGAATGTACTATCAGGATTTTACAGCAATGCTGGGAAAT GACAGGGAAAATGACAGGAATGAATCTCACCAGATTTTTTATGTACTCAGCAGAGCCTTGAGTTACGGTGTTTATTTTCCAATCAAGTGA AGATATCTCCTACTTCTCCTACTGGAACATCTCAGCTTCTGCAGTGAAGAAAAATTCCTGTGATAGTTCAGTTCTTTAGTTTTTCTATTT GAAAAAAAAAAATCATTTAAATGATCCTTTGTTCACGGCTCTCCTTAATGACTGAGTGAACAGTTCCTATCTGTATATTTGACTAAACCT TTTCCTAAGCTATCTCTCATGGTTCCTATGTTTTTTTATCATAATTAAAAGCAAAACCATCTGGATCACCTAACAGTCAGAGGTCAGTAT CTCAGCGTGTGAATTATAGAGGAAATACAGAGAGAACCTCTTCCACTTTTACTTTTCGTCCAAATAAAATGCATGGTGTACCAGAAGTTG AAGATCGGGTTGAGGATTGGGGCTAGCTCGATGACACTAAGGCCCCAACATCGCGGGACCTGCTGTGGCGCGGATTCTTAGGAACGCTGT TCTAGCCGGCCCCCTCTCCAGGGGTCGCCGTGGCCGGCATTATTTCCTAGTTCTTCTTGTAACCCTGAGGTGCCAGCGCGGGGAGTGAGG AGGGGTCAGGGGGCTAAGGATGCAACCTCTGACGTTCTGCGCCTTCCTAGGAGAGTCTTACATGTGTTGAGATTTCACAAGCAATGCGAG TTGTAAAATACCAGCTCTACAAGAAGCTAGGCTCTGTGACGGCATAGTTTTCAGTAGCTTTATCACAATATTCACAATGGAGAATTATAT GACATGGTAGCAGAAATAGGCCCTTTTATGTGTTGCTTCTATTTTACCTCAAATTGTAGATATAGGGTAATCAATAAAATCCATCCATGC CTTTCACACACTAA >24892_24892_6_ECHDC2-GTF2I_ECHDC2_chr1_53373539_ENST00000371522_GTF2I_chr7_74160675_ENST00000346152_length(amino acids)=455AA_BP=204 MLRVLCLLRPWRPLRARGCASDGAAGGSEIQVRALAGPDQGITEILMNRPSARNALGNVFVSELLETLAQLREDRQVRVLLFRSGVKGVF CAGADLKEREQMSEAEVGVFVQRLRGLMNDIALQSPKRPRSPGSNSKVPEIEVTVEGPNNNNPQTSAVRTPTQTNGSNVPFKPRGREFSF EAWNAKITDLKQKVENLFNEKCGEALGLKQAVKVPFALFESFPEDFYVEGLPEGVPFRRPSTFGIPRLEKILRNKAKIKFIIKKPEMFET AIKESTSSKSPPRKINSSPNVNTTASGVEDLNIIQVTIPDDDNERLSKVEKARQLREQVNDLFSRKFGEAIGMGFPVKVPYRKITINPGC VVVDGMPPGVSFKAPSYLEISSMRRILDSAEFIKFTVIRPFPGLVINNQLVDQSESEGPVIQESAEPSQLEVPATEEIKETDGSSQIKQE PDPTW -------------------------------------------------------------- >24892_24892_7_ECHDC2-GTF2I_ECHDC2_chr1_53373539_ENST00000371522_GTF2I_chr7_74160675_ENST00000353920_length(transcript)=2624nt_BP=458nt GAAGGCTTCGCCCGACGCCGGAACTGCGAGCTCTCAGCGGGAGCCGAGACGGTGCAGGGCCGGAGAAGCACCTTCACTCCCAGCCTGCGC CCCGATGCTGCGCGTTCTGTGCCTCCTGCGCCCCTGGAGGCCCCTTCGGGCCCGCGGCTGCGCTTCCGACGGGGCGGCCGGGGGCTCAGA GATCCAAGTGCGCGCCCTGGCGGGTCCGGACCAAGGGATCACTGAGATTCTGATGAACAGACCTTCTGCCCGCAATGCCTTGGGGAATGT CTTCGTCAGTGAGCTGCTGGAAACTCTGGCCCAGCTGCGGGAGGACCGGCAAGTGCGTGTCCTGCTCTTCAGAAGTGGAGTGAAGGGCGT GTTCTGTGCAGGTGCAGACCTGAAGGAGCGGGAACAGATGAGTGAAGCAGAGGTGGGGGTGTTTGTCCAGCGACTCCGGGGCCTGATGAA TGACATCGCTTTGCAGTCCCCCAAAAGACCACGAAGTCCTGGGAGTAATTCAAAGGTTCCTGAAATTGAGGTCACCGTGGAAGGCCCTAA TAACAACAATCCTCAAACCTCAGCTGTTCGAACCCCGACCCAGACTAACGGTTCTAACGTTCCCTTCAAGCCACGAGGGAGAGAGTTTTC CTTTGAGGCCTGGAATGCCAAAATCACGGACCTAAAACAGAAAGTTGAAAATCTCTTCAATGAGAAATGTGGGGAAGCTCTTGGCCTTAA ACAAGCTGTGAAGGTGCCGTTCGCGTTATTTGAGTCTTTCCCGGAAGACTTTTATGTGGAAGGCTTACCTGAGGGTGTGCCATTCCGAAG ACCATCGACTTTTGGCATTCCGAGGCTGGAGAAGATACTCAGAAACAAAGCCAAAATTAAGTTCATCATTAAAAAGCCCGAAATGTTTGA GACGGCGATTAAGGAGAGCACCTCCTCTAAGAGCCCTCCCAGAAAAATAAATTCATCACCCAATGTTAATACTACTGCATCAGGTGTTGA AGACCTTAACATCATTCAGGTGACAATTCCAGATGATGATAATGAAAGACTCTCGAAAGTTGAAAAAGCTAGACAGCTAAGAGAACAAGT GAATGACCTCTTTAGTCGGAAATTTGGTGAAGCTATTGGTATGGGTTTTCCTGTGAAAGTTCCCTACAGGAAAATCACAATTAACCCTGG CTGTGTGGTGGTTGATGGCATGCCCCCGGGGGTGTCCTTCAAAGCCCCCAGCTACCTGGAAATCAGCTCCATGAGAAGGATCTTAGACTC TGCCGAGTTTATCAAATTCACGGTCATTAGACCATTTCCAGGACTTGTGATTAATAACCAGCTGGTTGATCAGAGTGAGTCAGAAGGCCC CGTGATACAAGAATCAGCTGAACCAAGCCAGTTGGAAGTTCCAGCCACAGAAGAAATAAAAGAGACTGATGGAAGCTCTCAGATCAAGCA AGAACCAGACCCCACGTGGTAGACCTCTTCCCTCCTAGGCTTAAAGTATCAGTGGTTGAGAAGAGCTTTTCGGACCTGTTACTACCCCAA GCTGTGTAATATACTTGTATAACAGAAATACCTTCTATACAAACCTTTTTTTCTACTTTTAGATAGAAATGTCTACTTTTTCAGCAGTTC TGTGAATTAAAGAGCAGAGTGACTGTGGGTCTGGAATGGCTGGTGTACTTGGGAATGTACTATCAGGATTTTACAGCAATGCTGGGAAAT GACAGGGAAAATGACAGGAATGAATCTCACCAGATTTTTTATGTACTCAGCAGAGCCTTGAGTTACGGTGTTTATTTTCCAATCAAGTGA AGATATCTCCTACTTCTCCTACTGGAACATCTCAGCTTCTGCAGTGAAGAAAAATTCCTGTGATAGTTCAGTTCTTTAGTTTTTCTATTT GAAAAAAAAAAATCATTTAAATGATCCTTTGTTCACGGCTCTCCTTAATGACTGAGTGAACAGTTCCTATCTGTATATTTGACTAAACCT TTTCCTAAGCTATCTCTCATGGTTCCTATGTTTTTTTATCATAATTAAAAGCAAAACCATCTGGATCACCTAACAGTCAGAGGTCAGTAT CTCAGCGTGTGAATTATAGAGGAAATACAGAGAGAACCTCTTCCACTTTTACTTTTCGTCCAAATAAAATGCATGGTGTACCAGAAGTTG AAGATCGGGTTGAGGATTGGGGCTAGCTCGATGACACTAAGGCCCCAACATCGCGGGACCTGCTGTGGCGCGGATTCTTAGGAACGCTGT TCTAGCCGGCCCCCTCTCCAGGGGTCGCCGTGGCCGGCATTATTTCCTAGTTCTTCTTGTAACCCTGAGGTGCCAGCGCGGGGAGTGAGG AGGGGTCAGGGGGCTAAGGATGCAACCTCTGACGTTCTGCGCCTTCCTAGGAGAGTCTTACATGTGTTGAGATTTCACAAGCAATGCGAG TTGTAAAATACCAGCTCTACAAGAAGCTAGGCTCTGTGACGGCATAGTTTTCAGTAGCTTTATCACAATATTCACAATGGAGAATTATAT GACATGGTAGCAGAAATAGGCCCTTTTATGTGTTGCTTCTATTTTACCTCAAATTGTAGATATAGGGTAATCAATAAAATCCATCCATGC CTTTCACACACTAA >24892_24892_7_ECHDC2-GTF2I_ECHDC2_chr1_53373539_ENST00000371522_GTF2I_chr7_74160675_ENST00000353920_length(amino acids)=455AA_BP=204 MLRVLCLLRPWRPLRARGCASDGAAGGSEIQVRALAGPDQGITEILMNRPSARNALGNVFVSELLETLAQLREDRQVRVLLFRSGVKGVF CAGADLKEREQMSEAEVGVFVQRLRGLMNDIALQSPKRPRSPGSNSKVPEIEVTVEGPNNNNPQTSAVRTPTQTNGSNVPFKPRGREFSF EAWNAKITDLKQKVENLFNEKCGEALGLKQAVKVPFALFESFPEDFYVEGLPEGVPFRRPSTFGIPRLEKILRNKAKIKFIIKKPEMFET AIKESTSSKSPPRKINSSPNVNTTASGVEDLNIIQVTIPDDDNERLSKVEKARQLREQVNDLFSRKFGEAIGMGFPVKVPYRKITINPGC VVVDGMPPGVSFKAPSYLEISSMRRILDSAEFIKFTVIRPFPGLVINNQLVDQSESEGPVIQESAEPSQLEVPATEEIKETDGSSQIKQE PDPTW -------------------------------------------------------------- >24892_24892_8_ECHDC2-GTF2I_ECHDC2_chr1_53373539_ENST00000371522_GTF2I_chr7_74160675_ENST00000416070_length(transcript)=2628nt_BP=458nt GAAGGCTTCGCCCGACGCCGGAACTGCGAGCTCTCAGCGGGAGCCGAGACGGTGCAGGGCCGGAGAAGCACCTTCACTCCCAGCCTGCGC CCCGATGCTGCGCGTTCTGTGCCTCCTGCGCCCCTGGAGGCCCCTTCGGGCCCGCGGCTGCGCTTCCGACGGGGCGGCCGGGGGCTCAGA GATCCAAGTGCGCGCCCTGGCGGGTCCGGACCAAGGGATCACTGAGATTCTGATGAACAGACCTTCTGCCCGCAATGCCTTGGGGAATGT CTTCGTCAGTGAGCTGCTGGAAACTCTGGCCCAGCTGCGGGAGGACCGGCAAGTGCGTGTCCTGCTCTTCAGAAGTGGAGTGAAGGGCGT GTTCTGTGCAGGTGCAGACCTGAAGGAGCGGGAACAGATGAGTGAAGCAGAGGTGGGGGTGTTTGTCCAGCGACTCCGGGGCCTGATGAA TGACATCGCTTTGCAGTCCCCCAAAAGACCACGAAGTCCTGGGAGTAATTCAAAGGTTCCTGAAATTGAGGTCACCGTGGAAGGCCCTAA TAACAACAATCCTCAAACCTCAGCTGTTCGAACCCCGACCCAGACTAACGGTTCTAACGTTCCCTTCAAGCCACGAGGGAGAGAGTTTTC CTTTGAGGCCTGGAATGCCAAAATCACGGACCTAAAACAGAAAGTTGAAAATCTCTTCAATGAGAAATGTGGGGAAGCTCTTGGCCTTAA ACAAGCTGTGAAGGTGCCGTTCGCGTTATTTGAGTCTTTCCCGGAAGACTTTTATGTGGAAGGCTTACCTGAGGGTGTGCCATTCCGAAG ACCATCGACTTTTGGCATTCCGAGGCTGGAGAAGATACTCAGAAACAAAGCCAAAATTAAGTTCATCATTAAAAAGCCCGAAATGTTTGA GACGGCGATTAAGGAGAGCACCTCCTCTAAGAGCCCTCCCAGAAAAATAAATTCATCACCCAATGTTAATACTACTGCATCAGGTGTTGA AGACCTTAACATCATTCAGGTGACAATTCCAGATGATGATAATGAAAGACTCTCGAAAGTTGAAAAAGCTAGACAGCTAAGAGAACAAGT GAATGACCTCTTTAGTCGGAAATTTGGTGAAGCTATTGGTATGGGTTTTCCTGTGAAAGTTCCCTACAGGAAAATCACAATTAACCCTGG CTGTGTGGTGGTTGATGGCATGCCCCCGGGGGTGTCCTTCAAAGCCCCCAGCTACCTGGAAATCAGCTCCATGAGAAGGATCTTAGACTC TGCCGAGTTTATCAAATTCACGGTCATTAGACCATTTCCAGGACTTGTGATTAATAACCAGCTGGTTGATCAGAGTGAGTCAGAAGGCCC CGTGATACAAGAATCAGCTGAACCAAGCCAGTTGGAAGTTCCAGCCACAGAAGAAATAAAAGAGACTGATGGAAGCTCTCAGATCAAGCA AGAACCAGACCCCACGTGGTAGACCTCTTCCCTCCTAGGCTTAAAGTATCAGTGGTTGAGAAGAGCTTTTCGGACCTGTTACTACCCCAA GCTGTGTAATATACTTGTATAACAGAAATACCTTCTATACAAACCTTTTTTTCTACTTTTAGATAGAAATGTCTACTTTTTCAGCAGTTC TGTGAATTAAAGAGCAGAGTGACTGTGGGTCTGGAATGGCTGGTGTACTTGGGAATGTACTATCAGGATTTTACAGCAATGCTGGGAAAT GACAGGGAAAATGACAGGAATGAATCTCACCAGATTTTTTATGTACTCAGCAGAGCCTTGAGTTACGGTGTTTATTTTCCAATCAAGTGA AGATATCTCCTACTTCTCCTACTGGAACATCTCAGCTTCTGCAGTGAAGAAAAATTCCTGTGATAGTTCAGTTCTTTAGTTTTTCTATTT GAAAAAAAAAAATCATTTAAATGATCCTTTGTTCACGGCTCTCCTTAATGACTGAGTGAACAGTTCCTATCTGTATATTTGACTAAACCT TTTCCTAAGCTATCTCTCATGGTTCCTATGTTTTTTTATCATAATTAAAAGCAAAACCATCTGGATCACCTAACAGTCAGAGGTCAGTAT CTCAGCGTGTGAATTATAGAGGAAATACAGAGAGAACCTCTTCCACTTTTACTTTTCGTCCAAATAAAATGCATGGTGTACCAGAAGTTG AAGATCGGGTTGAGGATTGGGGCTAGCTCGATGACACTAAGGCCCCAACATCGCGGGACCTGCTGTGGCGCGGATTCTTAGGAACGCTGT TCTAGCCGGCCCCCTCTCCAGGGGTCGCCGTGGCCGGCATTATTTCCTAGTTCTTCTTGTAACCCTGAGGTGCCAGCGCGGGGAGTGAGG AGGGGTCAGGGGGCTAAGGATGCAACCTCTGACGTTCTGCGCCTTCCTAGGAGAGTCTTACATGTGTTGAGATTTCACAAGCAATGCGAG TTGTAAAATACCAGCTCTACAAGAAGCTAGGCTCTGTGACGGCATAGTTTTCAGTAGCTTTATCACAATATTCACAATGGAGAATTATAT GACATGGTAGCAGAAATAGGCCCTTTTATGTGTTGCTTCTATTTTACCTCAAATTGTAGATATAGGGTAATCAATAAAATCCATCCATGC CTTTCACACACTAAGTCA >24892_24892_8_ECHDC2-GTF2I_ECHDC2_chr1_53373539_ENST00000371522_GTF2I_chr7_74160675_ENST00000416070_length(amino acids)=455AA_BP=204 MLRVLCLLRPWRPLRARGCASDGAAGGSEIQVRALAGPDQGITEILMNRPSARNALGNVFVSELLETLAQLREDRQVRVLLFRSGVKGVF CAGADLKEREQMSEAEVGVFVQRLRGLMNDIALQSPKRPRSPGSNSKVPEIEVTVEGPNNNNPQTSAVRTPTQTNGSNVPFKPRGREFSF EAWNAKITDLKQKVENLFNEKCGEALGLKQAVKVPFALFESFPEDFYVEGLPEGVPFRRPSTFGIPRLEKILRNKAKIKFIIKKPEMFET AIKESTSSKSPPRKINSSPNVNTTASGVEDLNIIQVTIPDDDNERLSKVEKARQLREQVNDLFSRKFGEAIGMGFPVKVPYRKITINPGC VVVDGMPPGVSFKAPSYLEISSMRRILDSAEFIKFTVIRPFPGLVINNQLVDQSESEGPVIQESAEPSQLEVPATEEIKETDGSSQIKQE PDPTW -------------------------------------------------------------- >24892_24892_9_ECHDC2-GTF2I_ECHDC2_chr1_53373539_ENST00000541281_GTF2I_chr7_74160675_ENST00000324896_length(transcript)=2762nt_BP=596nt AGAAGCACCTTCACTCCCAGCCTGCGCCCCGATGCTGCGCGTTCTGTGCCTCCTGCGCCCCTGGAGGCCCCTTCGGGCCCGCGGCTGCGC TTCCGACGGGGCGGCCGGGGGCTCAGAGATCCAAGTGCGCGCCCTGGCGGGTCCGGACCAAGGCTGTAGGTTCCATGAGGACAGGCCTTG AGTCTGTCCTGGTCTCTGGAATCACGGTGTCTAGTAGAGGCCAGCACACAGCAAATATATAAATGTACAAATGAGTGAATGAAGAGAATC TGATTGGCCTTAAGGAACTTACGCACTTAAAATAATTGGGCAGAAGAGAAGCAGTGAAGGAGTGCAGAGGCATCACCTGAAAGGGATCAC TGAGATTCTGATGAACAGACCTTCTGCCCGCAATGCCTTGGGGAATGTCTTCGTCAGTGAGCTGCTGGAAACTCTGGCCCAGCTGCGGGA GGACCGGCAAGTGCGTGTCCTGCTCTTCAGAAGTGGAGTGAAGGGCGTGTTCTGTGCAGGTGCAGACCTGAAGGAGCGGGAACAGATGAG TGAAGCAGAGGTGGGGGTGTTTGTCCAGCGACTCCGGGGCCTGATGAATGACATCGCTTTGCAGTCCCCCAAAAGACCACGAAGTCCTGG GAGTAATTCAAAGGTTCCTGAAATTGAGGTCACCGTGGAAGGCCCTAATAACAACAATCCTCAAACCTCAGCTGTTCGAACCCCGACCCA GACTAACGGTTCTAACGTTCCCTTCAAGCCACGAGGGAGAGAGTTTTCCTTTGAGGCCTGGAATGCCAAAATCACGGACCTAAAACAGAA AGTTGAAAATCTCTTCAATGAGAAATGTGGGGAAGCTCTTGGCCTTAAACAAGCTGTGAAGGTGCCGTTCGCGTTATTTGAGTCTTTCCC GGAAGACTTTTATGTGGAAGGCTTACCTGAGGGTGTGCCATTCCGAAGACCATCGACTTTTGGCATTCCGAGGCTGGAGAAGATACTCAG AAACAAAGCCAAAATTAAGTTCATCATTAAAAAGCCCGAAATGTTTGAGACGGCGATTAAGGAGAGCACCTCCTCTAAGAGCCCTCCCAG AAAAATAAATTCATCACCCAATGTTAATACTACTGCATCAGGTGTTGAAGACCTTAACATCATTCAGGTGACAATTCCAGATGATGATAA TGAAAGACTCTCGAAAGTTGAAAAAGCTAGACAGCTAAGAGAACAAGTGAATGACCTCTTTAGTCGGAAATTTGGTGAAGCTATTGGTAT GGGTTTTCCTGTGAAAGTTCCCTACAGGAAAATCACAATTAACCCTGGCTGTGTGGTGGTTGATGGCATGCCCCCGGGGGTGTCCTTCAA AGCCCCCAGCTACCTGGAAATCAGCTCCATGAGAAGGATCTTAGACTCTGCCGAGTTTATCAAATTCACGGTCATTAGACCATTTCCAGG ACTTGTGATTAATAACCAGCTGGTTGATCAGAGTGAGTCAGAAGGCCCCGTGATACAAGAATCAGCTGAACCAAGCCAGTTGGAAGTTCC AGCCACAGAAGAAATAAAAGAGACTGATGGAAGCTCTCAGATCAAGCAAGAACCAGACCCCACGTGGTAGACCTCTTCCCTCCTAGGCTT AAAGTATCAGTGGTTGAGAAGAGCTTTTCGGACCTGTTACTACCCCAAGCTGTGTAATATACTTGTATAACAGAAATACCTTCTATACAA ACCTTTTTTTCTACTTTTAGATAGAAATGTCTACTTTTTCAGCAGTTCTGTGAATTAAAGAGCAGAGTGACTGTGGGTCTGGAATGGCTG GTGTACTTGGGAATGTACTATCAGGATTTTACAGCAATGCTGGGAAATGACAGGGAAAATGACAGGAATGAATCTCACCAGATTTTTTAT GTACTCAGCAGAGCCTTGAGTTACGGTGTTTATTTTCCAATCAAGTGAAGATATCTCCTACTTCTCCTACTGGAACATCTCAGCTTCTGC AGTGAAGAAAAATTCCTGTGATAGTTCAGTTCTTTAGTTTTTCTATTTGAAAAAAAAAAATCATTTAAATGATCCTTTGTTCACGGCTCT CCTTAATGACTGAGTGAACAGTTCCTATCTGTATATTTGACTAAACCTTTTCCTAAGCTATCTCTCATGGTTCCTATGTTTTTTTATCAT AATTAAAAGCAAAACCATCTGGATCACCTAACAGTCAGAGGTCAGTATCTCAGCGTGTGAATTATAGAGGAAATACAGAGAGAACCTCTT CCACTTTTACTTTTCGTCCAAATAAAATGCATGGTGTACCAGAAGTTGAAGATCGGGTTGAGGATTGGGGCTAGCTCGATGACACTAAGG CCCCAACATCGCGGGACCTGCTGTGGCGCGGATTCTTAGGAACGCTGTTCTAGCCGGCCCCCTCTCCAGGGGTCGCCGTGGCCGGCATTA TTTCCTAGTTCTTCTTGTAACCCTGAGGTGCCAGCGCGGGGAGTGAGGAGGGGTCAGGGGGCTAAGGATGCAACCTCTGACGTTCTGCGC CTTCCTAGGAGAGTCTTACATGTGTTGAGATTTCACAAGCAATGCGAGTTGTAAAATACCAGCTCTACAAGAAGCTAGGCTCTGTGACGG CATAGTTTTCAGTAGCTTTATCACAATATTCACAATGGAGAATTATATGACATGGTAGCAGAAATAGGCCCTTTTATGTGTTGCTTCTAT TTTACCTCAAATTGTAGATATAGGGTAATCAATAAAATCCATCCATGCCTTTCACACACTAA >24892_24892_9_ECHDC2-GTF2I_ECHDC2_chr1_53373539_ENST00000541281_GTF2I_chr7_74160675_ENST00000324896_length(amino acids)=417AA_BP=166 MKGITEILMNRPSARNALGNVFVSELLETLAQLREDRQVRVLLFRSGVKGVFCAGADLKEREQMSEAEVGVFVQRLRGLMNDIALQSPKR PRSPGSNSKVPEIEVTVEGPNNNNPQTSAVRTPTQTNGSNVPFKPRGREFSFEAWNAKITDLKQKVENLFNEKCGEALGLKQAVKVPFAL FESFPEDFYVEGLPEGVPFRRPSTFGIPRLEKILRNKAKIKFIIKKPEMFETAIKESTSSKSPPRKINSSPNVNTTASGVEDLNIIQVTI PDDDNERLSKVEKARQLREQVNDLFSRKFGEAIGMGFPVKVPYRKITINPGCVVVDGMPPGVSFKAPSYLEISSMRRILDSAEFIKFTVI RPFPGLVINNQLVDQSESEGPVIQESAEPSQLEVPATEEIKETDGSSQIKQEPDPTW -------------------------------------------------------------- >24892_24892_10_ECHDC2-GTF2I_ECHDC2_chr1_53373539_ENST00000541281_GTF2I_chr7_74160675_ENST00000346152_length(transcript)=2762nt_BP=596nt AGAAGCACCTTCACTCCCAGCCTGCGCCCCGATGCTGCGCGTTCTGTGCCTCCTGCGCCCCTGGAGGCCCCTTCGGGCCCGCGGCTGCGC TTCCGACGGGGCGGCCGGGGGCTCAGAGATCCAAGTGCGCGCCCTGGCGGGTCCGGACCAAGGCTGTAGGTTCCATGAGGACAGGCCTTG AGTCTGTCCTGGTCTCTGGAATCACGGTGTCTAGTAGAGGCCAGCACACAGCAAATATATAAATGTACAAATGAGTGAATGAAGAGAATC TGATTGGCCTTAAGGAACTTACGCACTTAAAATAATTGGGCAGAAGAGAAGCAGTGAAGGAGTGCAGAGGCATCACCTGAAAGGGATCAC TGAGATTCTGATGAACAGACCTTCTGCCCGCAATGCCTTGGGGAATGTCTTCGTCAGTGAGCTGCTGGAAACTCTGGCCCAGCTGCGGGA GGACCGGCAAGTGCGTGTCCTGCTCTTCAGAAGTGGAGTGAAGGGCGTGTTCTGTGCAGGTGCAGACCTGAAGGAGCGGGAACAGATGAG TGAAGCAGAGGTGGGGGTGTTTGTCCAGCGACTCCGGGGCCTGATGAATGACATCGCTTTGCAGTCCCCCAAAAGACCACGAAGTCCTGG GAGTAATTCAAAGGTTCCTGAAATTGAGGTCACCGTGGAAGGCCCTAATAACAACAATCCTCAAACCTCAGCTGTTCGAACCCCGACCCA GACTAACGGTTCTAACGTTCCCTTCAAGCCACGAGGGAGAGAGTTTTCCTTTGAGGCCTGGAATGCCAAAATCACGGACCTAAAACAGAA AGTTGAAAATCTCTTCAATGAGAAATGTGGGGAAGCTCTTGGCCTTAAACAAGCTGTGAAGGTGCCGTTCGCGTTATTTGAGTCTTTCCC GGAAGACTTTTATGTGGAAGGCTTACCTGAGGGTGTGCCATTCCGAAGACCATCGACTTTTGGCATTCCGAGGCTGGAGAAGATACTCAG AAACAAAGCCAAAATTAAGTTCATCATTAAAAAGCCCGAAATGTTTGAGACGGCGATTAAGGAGAGCACCTCCTCTAAGAGCCCTCCCAG AAAAATAAATTCATCACCCAATGTTAATACTACTGCATCAGGTGTTGAAGACCTTAACATCATTCAGGTGACAATTCCAGATGATGATAA TGAAAGACTCTCGAAAGTTGAAAAAGCTAGACAGCTAAGAGAACAAGTGAATGACCTCTTTAGTCGGAAATTTGGTGAAGCTATTGGTAT GGGTTTTCCTGTGAAAGTTCCCTACAGGAAAATCACAATTAACCCTGGCTGTGTGGTGGTTGATGGCATGCCCCCGGGGGTGTCCTTCAA AGCCCCCAGCTACCTGGAAATCAGCTCCATGAGAAGGATCTTAGACTCTGCCGAGTTTATCAAATTCACGGTCATTAGACCATTTCCAGG ACTTGTGATTAATAACCAGCTGGTTGATCAGAGTGAGTCAGAAGGCCCCGTGATACAAGAATCAGCTGAACCAAGCCAGTTGGAAGTTCC AGCCACAGAAGAAATAAAAGAGACTGATGGAAGCTCTCAGATCAAGCAAGAACCAGACCCCACGTGGTAGACCTCTTCCCTCCTAGGCTT AAAGTATCAGTGGTTGAGAAGAGCTTTTCGGACCTGTTACTACCCCAAGCTGTGTAATATACTTGTATAACAGAAATACCTTCTATACAA ACCTTTTTTTCTACTTTTAGATAGAAATGTCTACTTTTTCAGCAGTTCTGTGAATTAAAGAGCAGAGTGACTGTGGGTCTGGAATGGCTG GTGTACTTGGGAATGTACTATCAGGATTTTACAGCAATGCTGGGAAATGACAGGGAAAATGACAGGAATGAATCTCACCAGATTTTTTAT GTACTCAGCAGAGCCTTGAGTTACGGTGTTTATTTTCCAATCAAGTGAAGATATCTCCTACTTCTCCTACTGGAACATCTCAGCTTCTGC AGTGAAGAAAAATTCCTGTGATAGTTCAGTTCTTTAGTTTTTCTATTTGAAAAAAAAAAATCATTTAAATGATCCTTTGTTCACGGCTCT CCTTAATGACTGAGTGAACAGTTCCTATCTGTATATTTGACTAAACCTTTTCCTAAGCTATCTCTCATGGTTCCTATGTTTTTTTATCAT AATTAAAAGCAAAACCATCTGGATCACCTAACAGTCAGAGGTCAGTATCTCAGCGTGTGAATTATAGAGGAAATACAGAGAGAACCTCTT CCACTTTTACTTTTCGTCCAAATAAAATGCATGGTGTACCAGAAGTTGAAGATCGGGTTGAGGATTGGGGCTAGCTCGATGACACTAAGG CCCCAACATCGCGGGACCTGCTGTGGCGCGGATTCTTAGGAACGCTGTTCTAGCCGGCCCCCTCTCCAGGGGTCGCCGTGGCCGGCATTA TTTCCTAGTTCTTCTTGTAACCCTGAGGTGCCAGCGCGGGGAGTGAGGAGGGGTCAGGGGGCTAAGGATGCAACCTCTGACGTTCTGCGC CTTCCTAGGAGAGTCTTACATGTGTTGAGATTTCACAAGCAATGCGAGTTGTAAAATACCAGCTCTACAAGAAGCTAGGCTCTGTGACGG CATAGTTTTCAGTAGCTTTATCACAATATTCACAATGGAGAATTATATGACATGGTAGCAGAAATAGGCCCTTTTATGTGTTGCTTCTAT TTTACCTCAAATTGTAGATATAGGGTAATCAATAAAATCCATCCATGCCTTTCACACACTAA >24892_24892_10_ECHDC2-GTF2I_ECHDC2_chr1_53373539_ENST00000541281_GTF2I_chr7_74160675_ENST00000346152_length(amino acids)=417AA_BP=166 MKGITEILMNRPSARNALGNVFVSELLETLAQLREDRQVRVLLFRSGVKGVFCAGADLKEREQMSEAEVGVFVQRLRGLMNDIALQSPKR PRSPGSNSKVPEIEVTVEGPNNNNPQTSAVRTPTQTNGSNVPFKPRGREFSFEAWNAKITDLKQKVENLFNEKCGEALGLKQAVKVPFAL FESFPEDFYVEGLPEGVPFRRPSTFGIPRLEKILRNKAKIKFIIKKPEMFETAIKESTSSKSPPRKINSSPNVNTTASGVEDLNIIQVTI PDDDNERLSKVEKARQLREQVNDLFSRKFGEAIGMGFPVKVPYRKITINPGCVVVDGMPPGVSFKAPSYLEISSMRRILDSAEFIKFTVI RPFPGLVINNQLVDQSESEGPVIQESAEPSQLEVPATEEIKETDGSSQIKQEPDPTW -------------------------------------------------------------- >24892_24892_11_ECHDC2-GTF2I_ECHDC2_chr1_53373539_ENST00000541281_GTF2I_chr7_74160675_ENST00000353920_length(transcript)=2762nt_BP=596nt AGAAGCACCTTCACTCCCAGCCTGCGCCCCGATGCTGCGCGTTCTGTGCCTCCTGCGCCCCTGGAGGCCCCTTCGGGCCCGCGGCTGCGC TTCCGACGGGGCGGCCGGGGGCTCAGAGATCCAAGTGCGCGCCCTGGCGGGTCCGGACCAAGGCTGTAGGTTCCATGAGGACAGGCCTTG AGTCTGTCCTGGTCTCTGGAATCACGGTGTCTAGTAGAGGCCAGCACACAGCAAATATATAAATGTACAAATGAGTGAATGAAGAGAATC TGATTGGCCTTAAGGAACTTACGCACTTAAAATAATTGGGCAGAAGAGAAGCAGTGAAGGAGTGCAGAGGCATCACCTGAAAGGGATCAC TGAGATTCTGATGAACAGACCTTCTGCCCGCAATGCCTTGGGGAATGTCTTCGTCAGTGAGCTGCTGGAAACTCTGGCCCAGCTGCGGGA GGACCGGCAAGTGCGTGTCCTGCTCTTCAGAAGTGGAGTGAAGGGCGTGTTCTGTGCAGGTGCAGACCTGAAGGAGCGGGAACAGATGAG TGAAGCAGAGGTGGGGGTGTTTGTCCAGCGACTCCGGGGCCTGATGAATGACATCGCTTTGCAGTCCCCCAAAAGACCACGAAGTCCTGG GAGTAATTCAAAGGTTCCTGAAATTGAGGTCACCGTGGAAGGCCCTAATAACAACAATCCTCAAACCTCAGCTGTTCGAACCCCGACCCA GACTAACGGTTCTAACGTTCCCTTCAAGCCACGAGGGAGAGAGTTTTCCTTTGAGGCCTGGAATGCCAAAATCACGGACCTAAAACAGAA AGTTGAAAATCTCTTCAATGAGAAATGTGGGGAAGCTCTTGGCCTTAAACAAGCTGTGAAGGTGCCGTTCGCGTTATTTGAGTCTTTCCC GGAAGACTTTTATGTGGAAGGCTTACCTGAGGGTGTGCCATTCCGAAGACCATCGACTTTTGGCATTCCGAGGCTGGAGAAGATACTCAG AAACAAAGCCAAAATTAAGTTCATCATTAAAAAGCCCGAAATGTTTGAGACGGCGATTAAGGAGAGCACCTCCTCTAAGAGCCCTCCCAG AAAAATAAATTCATCACCCAATGTTAATACTACTGCATCAGGTGTTGAAGACCTTAACATCATTCAGGTGACAATTCCAGATGATGATAA TGAAAGACTCTCGAAAGTTGAAAAAGCTAGACAGCTAAGAGAACAAGTGAATGACCTCTTTAGTCGGAAATTTGGTGAAGCTATTGGTAT GGGTTTTCCTGTGAAAGTTCCCTACAGGAAAATCACAATTAACCCTGGCTGTGTGGTGGTTGATGGCATGCCCCCGGGGGTGTCCTTCAA AGCCCCCAGCTACCTGGAAATCAGCTCCATGAGAAGGATCTTAGACTCTGCCGAGTTTATCAAATTCACGGTCATTAGACCATTTCCAGG ACTTGTGATTAATAACCAGCTGGTTGATCAGAGTGAGTCAGAAGGCCCCGTGATACAAGAATCAGCTGAACCAAGCCAGTTGGAAGTTCC AGCCACAGAAGAAATAAAAGAGACTGATGGAAGCTCTCAGATCAAGCAAGAACCAGACCCCACGTGGTAGACCTCTTCCCTCCTAGGCTT AAAGTATCAGTGGTTGAGAAGAGCTTTTCGGACCTGTTACTACCCCAAGCTGTGTAATATACTTGTATAACAGAAATACCTTCTATACAA ACCTTTTTTTCTACTTTTAGATAGAAATGTCTACTTTTTCAGCAGTTCTGTGAATTAAAGAGCAGAGTGACTGTGGGTCTGGAATGGCTG GTGTACTTGGGAATGTACTATCAGGATTTTACAGCAATGCTGGGAAATGACAGGGAAAATGACAGGAATGAATCTCACCAGATTTTTTAT GTACTCAGCAGAGCCTTGAGTTACGGTGTTTATTTTCCAATCAAGTGAAGATATCTCCTACTTCTCCTACTGGAACATCTCAGCTTCTGC AGTGAAGAAAAATTCCTGTGATAGTTCAGTTCTTTAGTTTTTCTATTTGAAAAAAAAAAATCATTTAAATGATCCTTTGTTCACGGCTCT CCTTAATGACTGAGTGAACAGTTCCTATCTGTATATTTGACTAAACCTTTTCCTAAGCTATCTCTCATGGTTCCTATGTTTTTTTATCAT AATTAAAAGCAAAACCATCTGGATCACCTAACAGTCAGAGGTCAGTATCTCAGCGTGTGAATTATAGAGGAAATACAGAGAGAACCTCTT CCACTTTTACTTTTCGTCCAAATAAAATGCATGGTGTACCAGAAGTTGAAGATCGGGTTGAGGATTGGGGCTAGCTCGATGACACTAAGG CCCCAACATCGCGGGACCTGCTGTGGCGCGGATTCTTAGGAACGCTGTTCTAGCCGGCCCCCTCTCCAGGGGTCGCCGTGGCCGGCATTA TTTCCTAGTTCTTCTTGTAACCCTGAGGTGCCAGCGCGGGGAGTGAGGAGGGGTCAGGGGGCTAAGGATGCAACCTCTGACGTTCTGCGC CTTCCTAGGAGAGTCTTACATGTGTTGAGATTTCACAAGCAATGCGAGTTGTAAAATACCAGCTCTACAAGAAGCTAGGCTCTGTGACGG CATAGTTTTCAGTAGCTTTATCACAATATTCACAATGGAGAATTATATGACATGGTAGCAGAAATAGGCCCTTTTATGTGTTGCTTCTAT TTTACCTCAAATTGTAGATATAGGGTAATCAATAAAATCCATCCATGCCTTTCACACACTAA >24892_24892_11_ECHDC2-GTF2I_ECHDC2_chr1_53373539_ENST00000541281_GTF2I_chr7_74160675_ENST00000353920_length(amino acids)=417AA_BP=166 MKGITEILMNRPSARNALGNVFVSELLETLAQLREDRQVRVLLFRSGVKGVFCAGADLKEREQMSEAEVGVFVQRLRGLMNDIALQSPKR PRSPGSNSKVPEIEVTVEGPNNNNPQTSAVRTPTQTNGSNVPFKPRGREFSFEAWNAKITDLKQKVENLFNEKCGEALGLKQAVKVPFAL FESFPEDFYVEGLPEGVPFRRPSTFGIPRLEKILRNKAKIKFIIKKPEMFETAIKESTSSKSPPRKINSSPNVNTTASGVEDLNIIQVTI PDDDNERLSKVEKARQLREQVNDLFSRKFGEAIGMGFPVKVPYRKITINPGCVVVDGMPPGVSFKAPSYLEISSMRRILDSAEFIKFTVI RPFPGLVINNQLVDQSESEGPVIQESAEPSQLEVPATEEIKETDGSSQIKQEPDPTW -------------------------------------------------------------- >24892_24892_12_ECHDC2-GTF2I_ECHDC2_chr1_53373539_ENST00000541281_GTF2I_chr7_74160675_ENST00000416070_length(transcript)=2766nt_BP=596nt AGAAGCACCTTCACTCCCAGCCTGCGCCCCGATGCTGCGCGTTCTGTGCCTCCTGCGCCCCTGGAGGCCCCTTCGGGCCCGCGGCTGCGC TTCCGACGGGGCGGCCGGGGGCTCAGAGATCCAAGTGCGCGCCCTGGCGGGTCCGGACCAAGGCTGTAGGTTCCATGAGGACAGGCCTTG AGTCTGTCCTGGTCTCTGGAATCACGGTGTCTAGTAGAGGCCAGCACACAGCAAATATATAAATGTACAAATGAGTGAATGAAGAGAATC TGATTGGCCTTAAGGAACTTACGCACTTAAAATAATTGGGCAGAAGAGAAGCAGTGAAGGAGTGCAGAGGCATCACCTGAAAGGGATCAC TGAGATTCTGATGAACAGACCTTCTGCCCGCAATGCCTTGGGGAATGTCTTCGTCAGTGAGCTGCTGGAAACTCTGGCCCAGCTGCGGGA GGACCGGCAAGTGCGTGTCCTGCTCTTCAGAAGTGGAGTGAAGGGCGTGTTCTGTGCAGGTGCAGACCTGAAGGAGCGGGAACAGATGAG TGAAGCAGAGGTGGGGGTGTTTGTCCAGCGACTCCGGGGCCTGATGAATGACATCGCTTTGCAGTCCCCCAAAAGACCACGAAGTCCTGG GAGTAATTCAAAGGTTCCTGAAATTGAGGTCACCGTGGAAGGCCCTAATAACAACAATCCTCAAACCTCAGCTGTTCGAACCCCGACCCA GACTAACGGTTCTAACGTTCCCTTCAAGCCACGAGGGAGAGAGTTTTCCTTTGAGGCCTGGAATGCCAAAATCACGGACCTAAAACAGAA AGTTGAAAATCTCTTCAATGAGAAATGTGGGGAAGCTCTTGGCCTTAAACAAGCTGTGAAGGTGCCGTTCGCGTTATTTGAGTCTTTCCC GGAAGACTTTTATGTGGAAGGCTTACCTGAGGGTGTGCCATTCCGAAGACCATCGACTTTTGGCATTCCGAGGCTGGAGAAGATACTCAG AAACAAAGCCAAAATTAAGTTCATCATTAAAAAGCCCGAAATGTTTGAGACGGCGATTAAGGAGAGCACCTCCTCTAAGAGCCCTCCCAG AAAAATAAATTCATCACCCAATGTTAATACTACTGCATCAGGTGTTGAAGACCTTAACATCATTCAGGTGACAATTCCAGATGATGATAA TGAAAGACTCTCGAAAGTTGAAAAAGCTAGACAGCTAAGAGAACAAGTGAATGACCTCTTTAGTCGGAAATTTGGTGAAGCTATTGGTAT GGGTTTTCCTGTGAAAGTTCCCTACAGGAAAATCACAATTAACCCTGGCTGTGTGGTGGTTGATGGCATGCCCCCGGGGGTGTCCTTCAA AGCCCCCAGCTACCTGGAAATCAGCTCCATGAGAAGGATCTTAGACTCTGCCGAGTTTATCAAATTCACGGTCATTAGACCATTTCCAGG ACTTGTGATTAATAACCAGCTGGTTGATCAGAGTGAGTCAGAAGGCCCCGTGATACAAGAATCAGCTGAACCAAGCCAGTTGGAAGTTCC AGCCACAGAAGAAATAAAAGAGACTGATGGAAGCTCTCAGATCAAGCAAGAACCAGACCCCACGTGGTAGACCTCTTCCCTCCTAGGCTT AAAGTATCAGTGGTTGAGAAGAGCTTTTCGGACCTGTTACTACCCCAAGCTGTGTAATATACTTGTATAACAGAAATACCTTCTATACAA ACCTTTTTTTCTACTTTTAGATAGAAATGTCTACTTTTTCAGCAGTTCTGTGAATTAAAGAGCAGAGTGACTGTGGGTCTGGAATGGCTG GTGTACTTGGGAATGTACTATCAGGATTTTACAGCAATGCTGGGAAATGACAGGGAAAATGACAGGAATGAATCTCACCAGATTTTTTAT GTACTCAGCAGAGCCTTGAGTTACGGTGTTTATTTTCCAATCAAGTGAAGATATCTCCTACTTCTCCTACTGGAACATCTCAGCTTCTGC AGTGAAGAAAAATTCCTGTGATAGTTCAGTTCTTTAGTTTTTCTATTTGAAAAAAAAAAATCATTTAAATGATCCTTTGTTCACGGCTCT CCTTAATGACTGAGTGAACAGTTCCTATCTGTATATTTGACTAAACCTTTTCCTAAGCTATCTCTCATGGTTCCTATGTTTTTTTATCAT AATTAAAAGCAAAACCATCTGGATCACCTAACAGTCAGAGGTCAGTATCTCAGCGTGTGAATTATAGAGGAAATACAGAGAGAACCTCTT CCACTTTTACTTTTCGTCCAAATAAAATGCATGGTGTACCAGAAGTTGAAGATCGGGTTGAGGATTGGGGCTAGCTCGATGACACTAAGG CCCCAACATCGCGGGACCTGCTGTGGCGCGGATTCTTAGGAACGCTGTTCTAGCCGGCCCCCTCTCCAGGGGTCGCCGTGGCCGGCATTA TTTCCTAGTTCTTCTTGTAACCCTGAGGTGCCAGCGCGGGGAGTGAGGAGGGGTCAGGGGGCTAAGGATGCAACCTCTGACGTTCTGCGC CTTCCTAGGAGAGTCTTACATGTGTTGAGATTTCACAAGCAATGCGAGTTGTAAAATACCAGCTCTACAAGAAGCTAGGCTCTGTGACGG CATAGTTTTCAGTAGCTTTATCACAATATTCACAATGGAGAATTATATGACATGGTAGCAGAAATAGGCCCTTTTATGTGTTGCTTCTAT TTTACCTCAAATTGTAGATATAGGGTAATCAATAAAATCCATCCATGCCTTTCACACACTAAGTCA >24892_24892_12_ECHDC2-GTF2I_ECHDC2_chr1_53373539_ENST00000541281_GTF2I_chr7_74160675_ENST00000416070_length(amino acids)=417AA_BP=166 MKGITEILMNRPSARNALGNVFVSELLETLAQLREDRQVRVLLFRSGVKGVFCAGADLKEREQMSEAEVGVFVQRLRGLMNDIALQSPKR PRSPGSNSKVPEIEVTVEGPNNNNPQTSAVRTPTQTNGSNVPFKPRGREFSFEAWNAKITDLKQKVENLFNEKCGEALGLKQAVKVPFAL FESFPEDFYVEGLPEGVPFRRPSTFGIPRLEKILRNKAKIKFIIKKPEMFETAIKESTSSKSPPRKINSSPNVNTTASGVEDLNIIQVTI PDDDNERLSKVEKARQLREQVNDLFSRKFGEAIGMGFPVKVPYRKITINPGCVVVDGMPPGVSFKAPSYLEISSMRRILDSAEFIKFTVI RPFPGLVINNQLVDQSESEGPVIQESAEPSQLEVPATEEIKETDGSSQIKQEPDPTW -------------------------------------------------------------- |
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Fusion Gene PPI Analysis for ECHDC2-GTF2I |
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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 ECHDC2-GTF2I |
![]() (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 ECHDC2-GTF2I |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | C0004238 | Atrial Fibrillation | 2 | CTD_human | |
Tgene | C0175702 | Williams Syndrome | 2 | CTD_human | |
Tgene | C0235480 | Paroxysmal atrial fibrillation | 2 | CTD_human | |
Tgene | C2585653 | Persistent atrial fibrillation | 2 | CTD_human | |
Tgene | C3468561 | familial atrial fibrillation | 2 | CTD_human | |
Tgene | C0023467 | Leukemia, Myelocytic, Acute | 1 | CTD_human | |
Tgene | C0026998 | Acute Myeloid Leukemia, M1 | 1 | CTD_human | |
Tgene | C0086981 | Sicca Syndrome | 1 | CTD_human | |
Tgene | C1266101 | Thymic epithelial tumor | 1 | CTD_human | |
Tgene | C1510586 | Autism Spectrum Disorders | 1 | CTD_human | |
Tgene | C1527336 | Sjogren's Syndrome | 1 | CTD_human | |
Tgene | C1879321 | Acute Myeloid Leukemia (AML-M2) | 1 | CTD_human |