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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:PMM2-RBFOX1 (FusionGDB2 ID:66648) |
Fusion Gene Summary for PMM2-RBFOX1 |
Fusion gene summary |
Fusion gene information | Fusion gene name: PMM2-RBFOX1 | Fusion gene ID: 66648 | Hgene | Tgene | Gene symbol | PMM2 | RBFOX1 | Gene ID | 5373 | 54715 |
Gene name | phosphomannomutase 2 | RNA binding fox-1 homolog 1 | |
Synonyms | CDG1|CDG1a|CDGS|PMI|PMI1|PMM 2 | 2BP1|A2BP1|FOX-1|FOX1|HRNBP1 | |
Cytomap | 16p13.2 | 16p13.3 | |
Type of gene | protein-coding | protein-coding | |
Description | phosphomannomutase 2mannose-6-phosphate isomerasephosphomannose isomerase 1 | RNA binding protein fox-1 homolog 1RNA binding protein, fox-1 homolog 1ataxin 2-binding protein 1fox-1 homolog Afox-1-like RNA-binding protein 1hexaribonucleotide binding protein 1 isoform alphahexaribonucleotide binding protein 1 isoform betahexar | |
Modification date | 20200313 | 20200313 | |
UniProtAcc | . | . | |
Ensembl transtripts involved in fusion gene | ENST00000268261, ENST00000537352, ENST00000539622, ENST00000566983, ENST00000569958, ENST00000565837, | ENST00000311745, ENST00000340209, ENST00000355637, ENST00000436368, ENST00000547338, ENST00000547427, ENST00000552089, ENST00000422070, ENST00000535565, ENST00000547372, ENST00000550418, ENST00000553186, | |
Fusion gene scores | * DoF score | 7 X 4 X 4=112 | 36 X 34 X 8=9792 |
# samples | 7 | 39 | |
** MAII score | log2(7/112*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(39/9792*10)=-4.65005752894304 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: PMM2 [Title/Abstract] AND RBFOX1 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | PMM2(8906963)-RBFOX1(7568149), # 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 PMM2 (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 RBFOX1 (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 | STAD | TCGA-HU-A4HB-01A | PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568149 | + |
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Fusion Gene ORF analysis for PMM2-RBFOX1 |
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 | ENST00000268261 | ENST00000311745 | PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568149 | + |
5CDS-intron | ENST00000268261 | ENST00000340209 | PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568149 | + |
5CDS-intron | ENST00000268261 | ENST00000355637 | PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568149 | + |
5CDS-intron | ENST00000268261 | ENST00000436368 | PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568149 | + |
5CDS-intron | ENST00000268261 | ENST00000547338 | PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568149 | + |
5CDS-intron | ENST00000268261 | ENST00000547427 | PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568149 | + |
5CDS-intron | ENST00000268261 | ENST00000552089 | PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568149 | + |
5CDS-intron | ENST00000537352 | ENST00000311745 | PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568149 | + |
5CDS-intron | ENST00000537352 | ENST00000340209 | PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568149 | + |
5CDS-intron | ENST00000537352 | ENST00000355637 | PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568149 | + |
5CDS-intron | ENST00000537352 | ENST00000436368 | PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568149 | + |
5CDS-intron | ENST00000537352 | ENST00000547338 | PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568149 | + |
5CDS-intron | ENST00000537352 | ENST00000547427 | PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568149 | + |
5CDS-intron | ENST00000537352 | ENST00000552089 | PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568149 | + |
5CDS-intron | ENST00000539622 | ENST00000311745 | PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568149 | + |
5CDS-intron | ENST00000539622 | ENST00000340209 | PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568149 | + |
5CDS-intron | ENST00000539622 | ENST00000355637 | PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568149 | + |
5CDS-intron | ENST00000539622 | ENST00000436368 | PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568149 | + |
5CDS-intron | ENST00000539622 | ENST00000547338 | PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568149 | + |
5CDS-intron | ENST00000539622 | ENST00000547427 | PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568149 | + |
5CDS-intron | ENST00000539622 | ENST00000552089 | PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568149 | + |
5CDS-intron | ENST00000566983 | ENST00000311745 | PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568149 | + |
5CDS-intron | ENST00000566983 | ENST00000340209 | PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568149 | + |
5CDS-intron | ENST00000566983 | ENST00000355637 | PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568149 | + |
5CDS-intron | ENST00000566983 | ENST00000436368 | PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568149 | + |
5CDS-intron | ENST00000566983 | ENST00000547338 | PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568149 | + |
5CDS-intron | ENST00000566983 | ENST00000547427 | PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568149 | + |
5CDS-intron | ENST00000566983 | ENST00000552089 | PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568149 | + |
5CDS-intron | ENST00000569958 | ENST00000311745 | PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568149 | + |
5CDS-intron | ENST00000569958 | ENST00000340209 | PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568149 | + |
5CDS-intron | ENST00000569958 | ENST00000355637 | PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568149 | + |
5CDS-intron | ENST00000569958 | ENST00000436368 | PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568149 | + |
5CDS-intron | ENST00000569958 | ENST00000547338 | PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568149 | + |
5CDS-intron | ENST00000569958 | ENST00000547427 | PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568149 | + |
5CDS-intron | ENST00000569958 | ENST00000552089 | PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568149 | + |
In-frame | ENST00000268261 | ENST00000422070 | PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568149 | + |
In-frame | ENST00000268261 | ENST00000535565 | PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568149 | + |
In-frame | ENST00000268261 | ENST00000547372 | PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568149 | + |
In-frame | ENST00000268261 | ENST00000550418 | PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568149 | + |
In-frame | ENST00000268261 | ENST00000553186 | PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568149 | + |
In-frame | ENST00000537352 | ENST00000422070 | PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568149 | + |
In-frame | ENST00000537352 | ENST00000535565 | PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568149 | + |
In-frame | ENST00000537352 | ENST00000547372 | PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568149 | + |
In-frame | ENST00000537352 | ENST00000550418 | PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568149 | + |
In-frame | ENST00000537352 | ENST00000553186 | PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568149 | + |
In-frame | ENST00000539622 | ENST00000422070 | PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568149 | + |
In-frame | ENST00000539622 | ENST00000535565 | PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568149 | + |
In-frame | ENST00000539622 | ENST00000547372 | PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568149 | + |
In-frame | ENST00000539622 | ENST00000550418 | PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568149 | + |
In-frame | ENST00000539622 | ENST00000553186 | PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568149 | + |
In-frame | ENST00000566983 | ENST00000422070 | PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568149 | + |
In-frame | ENST00000566983 | ENST00000535565 | PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568149 | + |
In-frame | ENST00000566983 | ENST00000547372 | PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568149 | + |
In-frame | ENST00000566983 | ENST00000550418 | PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568149 | + |
In-frame | ENST00000566983 | ENST00000553186 | PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568149 | + |
In-frame | ENST00000569958 | ENST00000422070 | PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568149 | + |
In-frame | ENST00000569958 | ENST00000535565 | PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568149 | + |
In-frame | ENST00000569958 | ENST00000547372 | PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568149 | + |
In-frame | ENST00000569958 | ENST00000550418 | PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568149 | + |
In-frame | ENST00000569958 | ENST00000553186 | PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568149 | + |
intron-3CDS | ENST00000565837 | ENST00000422070 | PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568149 | + |
intron-3CDS | ENST00000565837 | ENST00000535565 | PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568149 | + |
intron-3CDS | ENST00000565837 | ENST00000547372 | PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568149 | + |
intron-3CDS | ENST00000565837 | ENST00000550418 | PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568149 | + |
intron-3CDS | ENST00000565837 | ENST00000553186 | PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568149 | + |
intron-intron | ENST00000565837 | ENST00000311745 | PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568149 | + |
intron-intron | ENST00000565837 | ENST00000340209 | PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568149 | + |
intron-intron | ENST00000565837 | ENST00000355637 | PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568149 | + |
intron-intron | ENST00000565837 | ENST00000436368 | PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568149 | + |
intron-intron | ENST00000565837 | ENST00000547338 | PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568149 | + |
intron-intron | ENST00000565837 | ENST00000547427 | PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568149 | + |
intron-intron | ENST00000565837 | ENST00000552089 | PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568149 | + |
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) |
ENST00000566983 | PMM2 | chr16 | 8906963 | + | ENST00000550418 | RBFOX1 | chr16 | 7568149 | + | 2024 | 762 | 204 | 1928 | 574 |
ENST00000566983 | PMM2 | chr16 | 8906963 | + | ENST00000553186 | RBFOX1 | chr16 | 7568149 | + | 1943 | 762 | 204 | 1847 | 547 |
ENST00000566983 | PMM2 | chr16 | 8906963 | + | ENST00000547372 | RBFOX1 | chr16 | 7568149 | + | 3824 | 762 | 204 | 2006 | 600 |
ENST00000566983 | PMM2 | chr16 | 8906963 | + | ENST00000422070 | RBFOX1 | chr16 | 7568149 | + | 2094 | 762 | 204 | 1883 | 559 |
ENST00000566983 | PMM2 | chr16 | 8906963 | + | ENST00000535565 | RBFOX1 | chr16 | 7568149 | + | 1905 | 762 | 204 | 1769 | 521 |
ENST00000268261 | PMM2 | chr16 | 8906963 | + | ENST00000550418 | RBFOX1 | chr16 | 7568149 | + | 1967 | 705 | 66 | 1871 | 601 |
ENST00000268261 | PMM2 | chr16 | 8906963 | + | ENST00000553186 | RBFOX1 | chr16 | 7568149 | + | 1886 | 705 | 66 | 1790 | 574 |
ENST00000268261 | PMM2 | chr16 | 8906963 | + | ENST00000547372 | RBFOX1 | chr16 | 7568149 | + | 3767 | 705 | 66 | 1949 | 627 |
ENST00000268261 | PMM2 | chr16 | 8906963 | + | ENST00000422070 | RBFOX1 | chr16 | 7568149 | + | 2037 | 705 | 66 | 1826 | 586 |
ENST00000268261 | PMM2 | chr16 | 8906963 | + | ENST00000535565 | RBFOX1 | chr16 | 7568149 | + | 1848 | 705 | 66 | 1712 | 548 |
ENST00000539622 | PMM2 | chr16 | 8906963 | + | ENST00000550418 | RBFOX1 | chr16 | 7568149 | + | 1865 | 603 | 186 | 1769 | 527 |
ENST00000539622 | PMM2 | chr16 | 8906963 | + | ENST00000553186 | RBFOX1 | chr16 | 7568149 | + | 1784 | 603 | 186 | 1688 | 500 |
ENST00000539622 | PMM2 | chr16 | 8906963 | + | ENST00000547372 | RBFOX1 | chr16 | 7568149 | + | 3665 | 603 | 186 | 1847 | 553 |
ENST00000539622 | PMM2 | chr16 | 8906963 | + | ENST00000422070 | RBFOX1 | chr16 | 7568149 | + | 1935 | 603 | 186 | 1724 | 512 |
ENST00000539622 | PMM2 | chr16 | 8906963 | + | ENST00000535565 | RBFOX1 | chr16 | 7568149 | + | 1746 | 603 | 186 | 1610 | 474 |
ENST00000537352 | PMM2 | chr16 | 8906963 | + | ENST00000550418 | RBFOX1 | chr16 | 7568149 | + | 1748 | 486 | 222 | 1652 | 476 |
ENST00000537352 | PMM2 | chr16 | 8906963 | + | ENST00000553186 | RBFOX1 | chr16 | 7568149 | + | 1667 | 486 | 222 | 1571 | 449 |
ENST00000537352 | PMM2 | chr16 | 8906963 | + | ENST00000547372 | RBFOX1 | chr16 | 7568149 | + | 3548 | 486 | 222 | 1730 | 502 |
ENST00000537352 | PMM2 | chr16 | 8906963 | + | ENST00000422070 | RBFOX1 | chr16 | 7568149 | + | 1818 | 486 | 222 | 1607 | 461 |
ENST00000537352 | PMM2 | chr16 | 8906963 | + | ENST00000535565 | RBFOX1 | chr16 | 7568149 | + | 1629 | 486 | 222 | 1493 | 423 |
ENST00000569958 | PMM2 | chr16 | 8906963 | + | ENST00000550418 | RBFOX1 | chr16 | 7568149 | + | 1644 | 382 | 16 | 1548 | 510 |
ENST00000569958 | PMM2 | chr16 | 8906963 | + | ENST00000553186 | RBFOX1 | chr16 | 7568149 | + | 1563 | 382 | 16 | 1467 | 483 |
ENST00000569958 | PMM2 | chr16 | 8906963 | + | ENST00000547372 | RBFOX1 | chr16 | 7568149 | + | 3444 | 382 | 16 | 1626 | 536 |
ENST00000569958 | PMM2 | chr16 | 8906963 | + | ENST00000422070 | RBFOX1 | chr16 | 7568149 | + | 1714 | 382 | 16 | 1503 | 495 |
ENST00000569958 | PMM2 | chr16 | 8906963 | + | ENST00000535565 | RBFOX1 | chr16 | 7568149 | + | 1525 | 382 | 16 | 1389 | 457 |
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 |
ENST00000566983 | ENST00000550418 | PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568149 | + | 0.001188939 | 0.9988111 |
ENST00000566983 | ENST00000553186 | PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568149 | + | 0.001346043 | 0.9986539 |
ENST00000566983 | ENST00000547372 | PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568149 | + | 0.000429008 | 0.999571 |
ENST00000566983 | ENST00000422070 | PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568149 | + | 0.000688342 | 0.9993117 |
ENST00000566983 | ENST00000535565 | PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568149 | + | 0.000709306 | 0.9992907 |
ENST00000268261 | ENST00000550418 | PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568149 | + | 0.000749409 | 0.9992506 |
ENST00000268261 | ENST00000553186 | PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568149 | + | 0.000854356 | 0.9991456 |
ENST00000268261 | ENST00000547372 | PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568149 | + | 0.00024404 | 0.9997559 |
ENST00000268261 | ENST00000422070 | PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568149 | + | 0.000435054 | 0.99956495 |
ENST00000268261 | ENST00000535565 | PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568149 | + | 0.000474599 | 0.9995254 |
ENST00000539622 | ENST00000550418 | PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568149 | + | 0.001407696 | 0.9985923 |
ENST00000539622 | ENST00000553186 | PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568149 | + | 0.00137754 | 0.9986224 |
ENST00000539622 | ENST00000547372 | PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568149 | + | 0.000404991 | 0.999595 |
ENST00000539622 | ENST00000422070 | PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568149 | + | 0.000794175 | 0.9992059 |
ENST00000539622 | ENST00000535565 | PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568149 | + | 0.000801957 | 0.999198 |
ENST00000537352 | ENST00000550418 | PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568149 | + | 0.001371612 | 0.9986284 |
ENST00000537352 | ENST00000553186 | PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568149 | + | 0.001641199 | 0.9983588 |
ENST00000537352 | ENST00000547372 | PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568149 | + | 0.000369659 | 0.99963033 |
ENST00000537352 | ENST00000422070 | PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568149 | + | 0.000946736 | 0.9990533 |
ENST00000537352 | ENST00000535565 | PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568149 | + | 0.001776314 | 0.9982237 |
ENST00000569958 | ENST00000550418 | PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568149 | + | 0.001436671 | 0.99856335 |
ENST00000569958 | ENST00000553186 | PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568149 | + | 0.00151603 | 0.99848396 |
ENST00000569958 | ENST00000547372 | PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568149 | + | 0.00044457 | 0.9995554 |
ENST00000569958 | ENST00000422070 | PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568149 | + | 0.000835736 | 0.9991642 |
ENST00000569958 | ENST00000535565 | PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568149 | + | 0.000929647 | 0.99907035 |
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Fusion Genomic Features for PMM2-RBFOX1 |
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) |
PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568148 | + | 7.03E-09 | 1 |
PMM2 | chr16 | 8906963 | + | RBFOX1 | chr16 | 7568148 | + | 7.03E-09 | 1 |
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 PMM2-RBFOX1 |
Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr16:8906963/chr16:7568149) - 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 |
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FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. | FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. |
Retention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at * Minus value of BPloci means that the break pointn is located before the CDS. |
- In-frame and retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
Tgene | RBFOX1 | chr16:8906963 | chr16:7568149 | ENST00000311745 | 0 | 13 | 117_193 | 29 | 419.0 | Domain | RRM | |
Tgene | RBFOX1 | chr16:8906963 | chr16:7568149 | ENST00000355637 | 0 | 14 | 117_193 | 29 | 396.0 | Domain | RRM | |
Tgene | RBFOX1 | chr16:8906963 | chr16:7568149 | ENST00000436368 | 0 | 13 | 117_193 | 29 | 393.0 | Domain | RRM | |
Tgene | RBFOX1 | chr16:8906963 | chr16:7568149 | ENST00000547338 | 1 | 14 | 117_193 | 9 | 398.0 | Domain | RRM | |
Tgene | RBFOX1 | chr16:8906963 | chr16:7568149 | ENST00000550418 | 3 | 16 | 117_193 | 9 | 398.0 | Domain | RRM | |
Tgene | RBFOX1 | chr16:8906963 | chr16:7568149 | ENST00000553186 | 3 | 15 | 117_193 | 9 | 371.0 | Domain | RRM |
- 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 |
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Fusion Gene Sequence for PMM2-RBFOX1 |
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. |
>66648_66648_1_PMM2-RBFOX1_PMM2_chr16_8906963_ENST00000268261_RBFOX1_chr16_7568149_ENST00000422070_length(transcript)=2037nt_BP=705nt CCGGAAGTTCCGGGCCGAGTTCCTCGTGCCAACGTGTCTTGTAAGGTGCGGCTAGAAACTGGGGACATGGCAGCGCCTGGCCCAGCGCTC TGCCTCTTCGACGTGGATGGGACCCTCACCGCCCCGCGGCAGAAAATTACCAAAGAAATGGATGACTTCCTACAAAAATTGAGGCAGAAG ATCAAAATCGGAGTGGTAGGCGGATCGGACTTTGAGAAAGTGCAGGAGCAACTGGGAAATGATGTGGTTGAAAAATACGATTATGTGTTT CCAGAAAATGGCTTGGTAGCATACAAAGATGGGAAACTCTTGTGTAGACAGAATATTCAAAGTCATCTGGGTGAGGCCCTAATCCAAGAT TTAATCAACTACTGTCTGAGCTACATTGCGAAAATTAAACTCCCGAAGAAGAGGGGTACTTTCATTGAATTCCGAAATGGGATGTTAAAC GTGTCCCCTATTGGAAGAAGCTGCAGCCAAGAAGAACGCATTGAGTTCTACGAACTCGATAAAAAAGAAAATATAAGACAAAAGTTTGTA GCAGATCTACGGAAAGAGTTTGCTGGAAAAGGCCTCACGTTTTCCATAGGAGGCCAGATCAGCTTTGATGTCTTTCCTGATGGATGGGAC AAGAGATACTGTCTGCGACATGTGGAAAATGACGGTTATAAGACCATTTATTTCTTTGGAGACAAAACTATGCCAGGTAATCAGGAAGCA GCCGCTGCCCCTGACACAATGGCTCAGCCTTACGCTTCGGCCCAGTTTGCTCCCCCGCAGAACGGTATCCCCGCGGAATACACGGCCCCT CATCCCCACCCCGCGCCAGAGTACACAGGCCAGACCACGGTTCCCGAGCACACATTAAACCTGTACCCTCCCGCCCAGACGCACTCCGAG CAGAGCCCGGCGGACACGAGCGCTCAGACCGTCTCTGGCACCGCCACACAGACAGATGACGCAGCACCGACGGATGGCCAGCCCCAGACA CAACCTTCTGAAAACACGGAAAACAAGTCTCAGCCCAAGCGGCTGCATGTCTCCAATATCCCCTTCAGGTTCCGGGATCCGGACCTCAGA CAAATGTTTGGTCAATTTGGTAAAATCTTAGATGTTGAAATTATTTTTAATGAGCGAGGCTCAAAGGGATTTGGTTTCGTAACTTTCGAA AATAGTGCCGATGCGGACAGGGCGAGGGAGAAATTACACGGCACCGTGGTAGAGGGCCGTAAAATCGAGGTAAATAATGCCACAGCACGT GTAATGACAAATAAAAAGACCGTCAACCCTTATACAAATGGCTGGAAATTGAATCCAGTTGTGGGTGCAGTCTACAGTCCCGAATTCTAT GCAGGCACGGTCCTGTTGTGCCAGGCCAACCAGGAGGGATCTTCCATGTACAGTGCCCCCAGTTCACTTGTATATACTTCTGCAATGCCA GGCTTCCCGTATCCAGCAGCCACCGCCGCGGCCGCCTACCGAGGGGCGCACCTGCGAGGCCGCGGTCGCACCGTGTACAACACCTTCAGG GCCGCGGCGCCCCCGCCCCCGATCCCGGCCTACGGCGGTGTTGTTTACCAGGATGGATTTTATGGTGCAGACATTTATGGTGGTTATGCT GCATACCGCTACGCCCAGCCTACCCCTGCCACTGCCGCTGCCTACAGTGACAGTTACGGACGAGTTTATGCTGCCGACCCCTACCACCAC GCACTTGCTCCAGCCCCCACCTACGGCGTTGGTGCCATGCCCCAAGGTTCCAGCCCCAGCACAGACTTCAGAGGAGCTAAGCTGCACACT TCCAGGCCTCTGCTGTCAGGCAGCTGAGAATCTGACTGCCTCTCCTCCCCTATTACAATTCATGTTTAAAGTCATAGTCGCCCAGGAAAG AAAATAGAGAGGGGCACACTTTGTGTGTGTACCTAGTACATAAGAAAGTAGAAGGAATCAGCTGGGTTTGGGGGTTGCCTTTTGTTTTGG >66648_66648_1_PMM2-RBFOX1_PMM2_chr16_8906963_ENST00000268261_RBFOX1_chr16_7568149_ENST00000422070_length(amino acids)=586AA_BP=213 MAAPGPALCLFDVDGTLTAPRQKITKEMDDFLQKLRQKIKIGVVGGSDFEKVQEQLGNDVVEKYDYVFPENGLVAYKDGKLLCRQNIQSH LGEALIQDLINYCLSYIAKIKLPKKRGTFIEFRNGMLNVSPIGRSCSQEERIEFYELDKKENIRQKFVADLRKEFAGKGLTFSIGGQISF DVFPDGWDKRYCLRHVENDGYKTIYFFGDKTMPGNQEAAAAPDTMAQPYASAQFAPPQNGIPAEYTAPHPHPAPEYTGQTTVPEHTLNLY PPAQTHSEQSPADTSAQTVSGTATQTDDAAPTDGQPQTQPSENTENKSQPKRLHVSNIPFRFRDPDLRQMFGQFGKILDVEIIFNERGSK GFGFVTFENSADADRAREKLHGTVVEGRKIEVNNATARVMTNKKTVNPYTNGWKLNPVVGAVYSPEFYAGTVLLCQANQEGSSMYSAPSS LVYTSAMPGFPYPAATAAAAYRGAHLRGRGRTVYNTFRAAAPPPPIPAYGGVVYQDGFYGADIYGGYAAYRYAQPTPATAAAYSDSYGRV -------------------------------------------------------------- >66648_66648_2_PMM2-RBFOX1_PMM2_chr16_8906963_ENST00000268261_RBFOX1_chr16_7568149_ENST00000535565_length(transcript)=1848nt_BP=705nt CCGGAAGTTCCGGGCCGAGTTCCTCGTGCCAACGTGTCTTGTAAGGTGCGGCTAGAAACTGGGGACATGGCAGCGCCTGGCCCAGCGCTC TGCCTCTTCGACGTGGATGGGACCCTCACCGCCCCGCGGCAGAAAATTACCAAAGAAATGGATGACTTCCTACAAAAATTGAGGCAGAAG ATCAAAATCGGAGTGGTAGGCGGATCGGACTTTGAGAAAGTGCAGGAGCAACTGGGAAATGATGTGGTTGAAAAATACGATTATGTGTTT CCAGAAAATGGCTTGGTAGCATACAAAGATGGGAAACTCTTGTGTAGACAGAATATTCAAAGTCATCTGGGTGAGGCCCTAATCCAAGAT TTAATCAACTACTGTCTGAGCTACATTGCGAAAATTAAACTCCCGAAGAAGAGGGGTACTTTCATTGAATTCCGAAATGGGATGTTAAAC GTGTCCCCTATTGGAAGAAGCTGCAGCCAAGAAGAACGCATTGAGTTCTACGAACTCGATAAAAAAGAAAATATAAGACAAAAGTTTGTA GCAGATCTACGGAAAGAGTTTGCTGGAAAAGGCCTCACGTTTTCCATAGGAGGCCAGATCAGCTTTGATGTCTTTCCTGATGGATGGGAC AAGAGATACTGTCTGCGACATGTGGAAAATGACGGTTATAAGACCATTTATTTCTTTGGAGACAAAACTATGCCAGGTAATCAGGAAGCA GCCGCTGCCCCTGACACAATGGCTCAGCCTTACGCTTCGGCCCAGTTTGCTCCCCCGCAGAACGGTATCCCCGCGGAATACACGGCCCCT CATCCCCACCCCGCGCCAGAGTACACAGGCCAGACCACGGTTCCCGAGCACACATTAAACCTGTACCCTCCCGCCCAGACGCACTCCGAG CAGAGCCCGGCGGACACGAGCGCTCAGACCGTCTCTGGCACCGCCACACAATTTGGTAAAATCTTAGATGTTGAAATTATTTTTAATGAG CGAGGCTCAAAGGTAAATAATGCCACAGCACGTGTAATGACAAATAAAAAGACCGTCAACCCTTATACAAATGGCTGGAAATTGAATCCA GTTGTGGGTGCAGTCTACAGTCCCGAATTCTATGCAGGCACGGTCCTGTTGTGCCAGGCCAACCAGGAGGGATCTTCCATGTACAGTGCC CCCAGTTCACTTGTATATACTTCTGCAATGCCAGGCTTCCCGTATCCAGCAGCCACCGCCGCGGCCGCCTACCGAGGGGCGCACCTGCGA GGCCGCGGTCGCACCGTGTACAACACCTTCAGGGCCGCGGCGCCCCCGCCCCCGATCCCGGCCTACGGCGGTGTTGTTTACCAGGATGGA TTTTATGGTGCAGACATTTATGGTGGTTATGCTGCATACCGCTACGCCCAGCCTACCCCTGCCACTGCCGCTGCCTACAGTGACAGAAAT CAGTTCGTCTTCGTTGCAGCAGATGAAATTTCTTGTAACACCTCTGCAGTTACGGACGAGTTTATGCTGCCGACCCCTACCACCACGCAC TTGCTCCAGCCCCCACCTACGGCGTTGGTGCCATGCCCCAAGGTTCCAGCCCCAGCACAGACTTCAGAGGAGCTAAGCTGCACACTTCCA GGCCTCTGCTGTCAGGCAGCTGAGAATCTGACTGCCTCTCCTCCCCTATTACAATTCATGTTTAAAGTCATAGTCGCCCAGGAAAGAAAA TAGAGAGGGGCACACTTTGTGTGTGTACCTAGTACATAAGAAAGTAGAAGGAATCAGCTGGGTTTGGGGGTTGCCTTTTGTTTTGGGGCA >66648_66648_2_PMM2-RBFOX1_PMM2_chr16_8906963_ENST00000268261_RBFOX1_chr16_7568149_ENST00000535565_length(amino acids)=548AA_BP=213 MAAPGPALCLFDVDGTLTAPRQKITKEMDDFLQKLRQKIKIGVVGGSDFEKVQEQLGNDVVEKYDYVFPENGLVAYKDGKLLCRQNIQSH LGEALIQDLINYCLSYIAKIKLPKKRGTFIEFRNGMLNVSPIGRSCSQEERIEFYELDKKENIRQKFVADLRKEFAGKGLTFSIGGQISF DVFPDGWDKRYCLRHVENDGYKTIYFFGDKTMPGNQEAAAAPDTMAQPYASAQFAPPQNGIPAEYTAPHPHPAPEYTGQTTVPEHTLNLY PPAQTHSEQSPADTSAQTVSGTATQFGKILDVEIIFNERGSKVNNATARVMTNKKTVNPYTNGWKLNPVVGAVYSPEFYAGTVLLCQANQ EGSSMYSAPSSLVYTSAMPGFPYPAATAAAAYRGAHLRGRGRTVYNTFRAAAPPPPIPAYGGVVYQDGFYGADIYGGYAAYRYAQPTPAT AAAYSDRNQFVFVAADEISCNTSAVTDEFMLPTPTTTHLLQPPPTALVPCPKVPAPAQTSEELSCTLPGLCCQAAENLTASPPLLQFMFK -------------------------------------------------------------- >66648_66648_3_PMM2-RBFOX1_PMM2_chr16_8906963_ENST00000268261_RBFOX1_chr16_7568149_ENST00000547372_length(transcript)=3767nt_BP=705nt CCGGAAGTTCCGGGCCGAGTTCCTCGTGCCAACGTGTCTTGTAAGGTGCGGCTAGAAACTGGGGACATGGCAGCGCCTGGCCCAGCGCTC TGCCTCTTCGACGTGGATGGGACCCTCACCGCCCCGCGGCAGAAAATTACCAAAGAAATGGATGACTTCCTACAAAAATTGAGGCAGAAG ATCAAAATCGGAGTGGTAGGCGGATCGGACTTTGAGAAAGTGCAGGAGCAACTGGGAAATGATGTGGTTGAAAAATACGATTATGTGTTT CCAGAAAATGGCTTGGTAGCATACAAAGATGGGAAACTCTTGTGTAGACAGAATATTCAAAGTCATCTGGGTGAGGCCCTAATCCAAGAT TTAATCAACTACTGTCTGAGCTACATTGCGAAAATTAAACTCCCGAAGAAGAGGGGTACTTTCATTGAATTCCGAAATGGGATGTTAAAC GTGTCCCCTATTGGAAGAAGCTGCAGCCAAGAAGAACGCATTGAGTTCTACGAACTCGATAAAAAAGAAAATATAAGACAAAAGTTTGTA GCAGATCTACGGAAAGAGTTTGCTGGAAAAGGCCTCACGTTTTCCATAGGAGGCCAGATCAGCTTTGATGTCTTTCCTGATGGATGGGAC AAGAGATACTGTCTGCGACATGTGGAAAATGACGGTTATAAGACCATTTATTTCTTTGGAGACAAAACTATGCCAGGTAATCAGGAAGCA GCCGCTGCCCCTGACACAATGGCTCAGCCTTACGCTTCGGCCCAGTTTGCTCCCCCGCAGAACGGTATCCCCGCGGAATACACGGCCCCT CATCCCCACCCCGCGCCAGAGTACACAGGCCAGACCACGGTTCCCGAGCACACATTAAACCTGTACCCTCCCGCCCAGACGCACTCCGAG CAGAGCCCGGCGGACACGAGCGCTCAGACCGTCTCTGGCACCGCCACACAGACAGATGACGCAGCACCGACGGATGGCCAGCCCCAGACA CAACCTTCTGAAAACACGGAAAACAAGTCTCAGCCCAAGCGGCTGCATGTCTCCAATATCCCCTTCAGGTTCCGGGATCCGGACCTCAGA CAAATGTTTGGTCAATTTGGTAAAATCTTAGATGTTGAAATTATTTTTAATGAGCGAGGCTCAAAGGGATTTGGTTTCGTAACTTTCGAA AATAGTGCCGATGCGGACAGGGCGAGGGAGAAATTACACGGCACCGTGGTAGAGGGCCGTAAAATCGAGGTAAATAATGCCACAGCACGT GTAATGACAAATAAAAAGACCGTCAACCCTTATACAAATGGCTGGAAATTGAATCCAGTTGTGGGTGCAGTCTACAGTCCCGAATTCTAT GCAGGCACGGTCCTGTTGTGCCAGGCCAACCAGGAGGGATCTTCCATGTACAGTGCCCCCAGTTCACTTGTATATACTTCTGCAATGCCA GGCTTCCCGTATCCAGCAGCCACCGCCGCGGCCGCCTACCGAGGGGCGCACCTGCGAGGCCGCGGTCGCACCGTGTACAACACCTTCAGG GCCGCGGCGCCCCCGCCCCCGATCCCGGCCTACGGCGGTGTTGTTTACCAGGATGGATTTTATGGTGCAGACATTTATGGTGGTTATGCT GCATACCGCTACGCCCAGCCTACCCCTGCCACTGCCGCTGCCTACAGTGACAGAAATCAGTTCGTCTTCGTTGCAGCAGATGAAATTTCT TGTAACACCTCTGCAGTTACGGACGAGTTTATGCTGCCGACCCCTACCACCACGCACTTGCTCCAGCCCCCACCTACGGCGTTGGTGCCA TGCCCCAAGGTTCCAGCCCCAGCACAGACTTCAGAGGAGCTAAGCTGCACACTTCCAGGCCTCTGCTGTCAGGCAGCTGAGAATCTGACT GCCTCTCCTCCCCTATTACAATTCATGTTTAAAGTCATAGTCGCCCAGGAAAGAAAATAGAGAGGGGCACACTTTGTGTGTGTACCTAGT ACATAAGAAAGTAGAAGGAATCAGCTGGGTTTGGGGGTTGCCTTTTGTTTTGGGGCAGGTCTGGGTTTTTGTTTTGGGAGGGGGTGGGGG GAGGGTAAAAAATGGGAGGTAAGGGTGGGGTGAACTTGCCTGTACTTGTTCAAACTTCTATGCACTGAAACTCTTGAGTACAGTAAGACG TGCCCATCACGTGAGAGCATATGCAATCATTACAAAGCTTTGGCATGCAGTTTTCTGCTTGGATCAAGAATATCAGTCCTTACCCTAAAA ATGAATCCCCATAGGCATTCATTTGAATTGCCAATACTTTTAGAAAAAGGAAATCGTTAAGTGCCACCTTGTAGCCATTAAAACCATGGC CGGACAGTTCACTGAAGCTCAGTCATAGAAATTCAGCCATGATTTGGAAGCATTGTTTTGCACAAGCTTAATTACATCAAGCAATTCATC TGTACAACTCCACAACTCCCTTCTCAAGATCAGATTCCATACAGCTTACAGAGCCAAGTTAAGTAAGAAGTAGGTTGAGATTTTCATCCC AATTCTGCATTCAACAACTCTGCTTCAACACCTAGTCCACATGAGGAATGTGTTGGAGAGTTGAATTACATTCAACAACTGGTCCAAATT CAACCTCAAGTGCAGATTATTCTGTTATAAAAAAATGAGACAGTGAAAATCCTTCCATTGTCCAGCTTATAATAGAGTCCTTTTAGCTAA GAGGACTGGCTGACAGAATTTGGTTTTGCAGGGAATTTCTTTAGGAGGAGCTATTGGGGAAGGTCAGGAATGGCCCTATCTTTAGTTCTC CAAGAATGACCTGGGATGGGTAGGGGGTGCCTCCATTTCGGTTGGTTTTGAGTGTCTATTTTTCACATTAGTCTTTTTGATGATCCACAT GTTGCAAAAGGAAAATGTAAAAAACACACCCCTCAAATTGCTTTGTTTCAGAATGCTTTTGCACCTTTGACTGATGCCAAGACTAGGAGC CATGCTGATGATGTGGGTCTCGTTCTTTCTTCATTGCAGGCTAGTATATACCGAGGGGGATACAACCGTTTTGCTCCATACTAAATGACA AAACCATAAAAACCTTCCAATGTGGGGAGAAAGGAAGCTTTCCGAGGCCTGAGTATTGCAATACATGCAGTAGTACATCATTTTAGCAAC TCTAAAAAAAAAAAAAATACAAATAAAAAGGAAAAAAAATTACATTTTTTATCTTATACCTCAGATATTTTGTTCTGTGTATTTTAATAT TGTGGGTCTTTAATTTCTGAAGGTTCCGTAGTTTGGTTGCTGGCTGTAGGAGTTTTTGTGGTTGATCTAGACAGATGCTAGATAATGAAT AAAAACTGGTTTAGGGCCATATCCAGAGTGCTATATTATGTAAATGAATTATATATGCTGAATATTAAGCTACTGGGGTTATCAGCTATT TGGGAAGAGTGTAAGTGACTACAGTAGTCATTTTTTTCTGCACCTGCATTATTTTATTTTGCGAAAGGGGAGGTTGGGAGGGGCTTAGGG GATTGGAACTGGGGTTTGGCTGAAAGAAAAAAAAAAAAATGTAACTGATGAATCTAAACGACCCACTGCACCAACAATCATTTATCAATG GTTCTAAGTTACTCATTGCCAGTTCAAGCCAAAGGTCATGTTGTTAAGGGGGTGCTTCTAGTAGCACTTGTGCATCTGAGTTGAATGAAG >66648_66648_3_PMM2-RBFOX1_PMM2_chr16_8906963_ENST00000268261_RBFOX1_chr16_7568149_ENST00000547372_length(amino acids)=627AA_BP=213 MAAPGPALCLFDVDGTLTAPRQKITKEMDDFLQKLRQKIKIGVVGGSDFEKVQEQLGNDVVEKYDYVFPENGLVAYKDGKLLCRQNIQSH LGEALIQDLINYCLSYIAKIKLPKKRGTFIEFRNGMLNVSPIGRSCSQEERIEFYELDKKENIRQKFVADLRKEFAGKGLTFSIGGQISF DVFPDGWDKRYCLRHVENDGYKTIYFFGDKTMPGNQEAAAAPDTMAQPYASAQFAPPQNGIPAEYTAPHPHPAPEYTGQTTVPEHTLNLY PPAQTHSEQSPADTSAQTVSGTATQTDDAAPTDGQPQTQPSENTENKSQPKRLHVSNIPFRFRDPDLRQMFGQFGKILDVEIIFNERGSK GFGFVTFENSADADRAREKLHGTVVEGRKIEVNNATARVMTNKKTVNPYTNGWKLNPVVGAVYSPEFYAGTVLLCQANQEGSSMYSAPSS LVYTSAMPGFPYPAATAAAAYRGAHLRGRGRTVYNTFRAAAPPPPIPAYGGVVYQDGFYGADIYGGYAAYRYAQPTPATAAAYSDRNQFV -------------------------------------------------------------- >66648_66648_4_PMM2-RBFOX1_PMM2_chr16_8906963_ENST00000268261_RBFOX1_chr16_7568149_ENST00000550418_length(transcript)=1967nt_BP=705nt CCGGAAGTTCCGGGCCGAGTTCCTCGTGCCAACGTGTCTTGTAAGGTGCGGCTAGAAACTGGGGACATGGCAGCGCCTGGCCCAGCGCTC TGCCTCTTCGACGTGGATGGGACCCTCACCGCCCCGCGGCAGAAAATTACCAAAGAAATGGATGACTTCCTACAAAAATTGAGGCAGAAG ATCAAAATCGGAGTGGTAGGCGGATCGGACTTTGAGAAAGTGCAGGAGCAACTGGGAAATGATGTGGTTGAAAAATACGATTATGTGTTT CCAGAAAATGGCTTGGTAGCATACAAAGATGGGAAACTCTTGTGTAGACAGAATATTCAAAGTCATCTGGGTGAGGCCCTAATCCAAGAT TTAATCAACTACTGTCTGAGCTACATTGCGAAAATTAAACTCCCGAAGAAGAGGGGTACTTTCATTGAATTCCGAAATGGGATGTTAAAC GTGTCCCCTATTGGAAGAAGCTGCAGCCAAGAAGAACGCATTGAGTTCTACGAACTCGATAAAAAAGAAAATATAAGACAAAAGTTTGTA GCAGATCTACGGAAAGAGTTTGCTGGAAAAGGCCTCACGTTTTCCATAGGAGGCCAGATCAGCTTTGATGTCTTTCCTGATGGATGGGAC AAGAGATACTGTCTGCGACATGTGGAAAATGACGGTTATAAGACCATTTATTTCTTTGGAGACAAAACTATGCCAGGTAATCAGGAAGCA GCCGCTGCCCCTGACACAATGGCTCAGCCTTACGCTTCGGCCCAGTTTGCTCCCCCGCAGAACGGTATCCCCGCGGAATACACGGCCCCT CATCCCCACCCCGCGCCAGAGTACACAGGCCAGACCACGGTTCCCGAGCACACATTAAACCTGTACCCTCCCGCCCAGACGCACTCCGAG CAGAGCCCGGCGGACACGAGCGCTCAGACCGTCTCTGGCACCGCCACACAGACAGATGACGCAGCACCGACGGATGGCCAGCCCCAGACA CAACCTTCTGAAAACACGGAAAACAAGTCTCAGCCCAAGCGGCTGCATGTCTCCAATATCCCCTTCAGGTTCCGGGATCCGGACCTCAGA CAAATGTTTGGTCAATTTGGTAAAATCTTAGATGTTGAAATTATTTTTAATGAGCGAGGCTCAAAGGGATTTGGTTTCGTAACTTTCGAA AATAGTGCCGATGCGGACAGGGCGAGGGAGAAATTACACGGCACCGTGGTAGAGGGCCGTAAAATCGAGGTAAATAATGCCACAGCACGT GTAATGACAAATAAAAAGACCGTCAACCCTTATACAAATGGCTGGAAATTGAATCCAGTTGTGGGTGCAGTCTACAGTCCCGAATTCTAT GCAGGCACGGTCCTGTTGTGCCAGGCCAACCAGGAGGGATCTTCCATGTACAGTGCCCCCAGTTCACTTGTATATACTTCTGCAATGCCA GGCTTCCCGTATCCAGCAGCCACCGCCGCGGCCGCCTACCGAGGGGCGCACCTGCGAGGCCGCGGTCGCACCGTGTACAACACCTTCAGG GCCGCGGCGCCCCCGCCCCCGATCCCGGCCTACGGCGGTGTTGTTTACCAGGATGGATTTTATGGTGCAGACATTTATGGTGGTTATGCT GCATACCGCTACGCCCAGCCTACCCCTGCCACTGCCGCTGCCTACAGTGACAGTTACGGACGAGTTTATGCTGCCGACCCCTACCACCAC GCACTTGCTCCAGCCCCCACCTACGGCGTTGGTGCCATGAATGCTTTTGCACCTTTGACTGATGCCAAGACTAGGAGCCATGCTGATGAT GTGGGTCTCGTTCTTTCTTCATTGCAGGCTAGTATATACCGAGGGGGATACAACCGTTTTGCTCCATACTAAATGACAAAACCATAAAAA >66648_66648_4_PMM2-RBFOX1_PMM2_chr16_8906963_ENST00000268261_RBFOX1_chr16_7568149_ENST00000550418_length(amino acids)=601AA_BP=213 MAAPGPALCLFDVDGTLTAPRQKITKEMDDFLQKLRQKIKIGVVGGSDFEKVQEQLGNDVVEKYDYVFPENGLVAYKDGKLLCRQNIQSH LGEALIQDLINYCLSYIAKIKLPKKRGTFIEFRNGMLNVSPIGRSCSQEERIEFYELDKKENIRQKFVADLRKEFAGKGLTFSIGGQISF DVFPDGWDKRYCLRHVENDGYKTIYFFGDKTMPGNQEAAAAPDTMAQPYASAQFAPPQNGIPAEYTAPHPHPAPEYTGQTTVPEHTLNLY PPAQTHSEQSPADTSAQTVSGTATQTDDAAPTDGQPQTQPSENTENKSQPKRLHVSNIPFRFRDPDLRQMFGQFGKILDVEIIFNERGSK GFGFVTFENSADADRAREKLHGTVVEGRKIEVNNATARVMTNKKTVNPYTNGWKLNPVVGAVYSPEFYAGTVLLCQANQEGSSMYSAPSS LVYTSAMPGFPYPAATAAAAYRGAHLRGRGRTVYNTFRAAAPPPPIPAYGGVVYQDGFYGADIYGGYAAYRYAQPTPATAAAYSDSYGRV -------------------------------------------------------------- >66648_66648_5_PMM2-RBFOX1_PMM2_chr16_8906963_ENST00000268261_RBFOX1_chr16_7568149_ENST00000553186_length(transcript)=1886nt_BP=705nt CCGGAAGTTCCGGGCCGAGTTCCTCGTGCCAACGTGTCTTGTAAGGTGCGGCTAGAAACTGGGGACATGGCAGCGCCTGGCCCAGCGCTC TGCCTCTTCGACGTGGATGGGACCCTCACCGCCCCGCGGCAGAAAATTACCAAAGAAATGGATGACTTCCTACAAAAATTGAGGCAGAAG ATCAAAATCGGAGTGGTAGGCGGATCGGACTTTGAGAAAGTGCAGGAGCAACTGGGAAATGATGTGGTTGAAAAATACGATTATGTGTTT CCAGAAAATGGCTTGGTAGCATACAAAGATGGGAAACTCTTGTGTAGACAGAATATTCAAAGTCATCTGGGTGAGGCCCTAATCCAAGAT TTAATCAACTACTGTCTGAGCTACATTGCGAAAATTAAACTCCCGAAGAAGAGGGGTACTTTCATTGAATTCCGAAATGGGATGTTAAAC GTGTCCCCTATTGGAAGAAGCTGCAGCCAAGAAGAACGCATTGAGTTCTACGAACTCGATAAAAAAGAAAATATAAGACAAAAGTTTGTA GCAGATCTACGGAAAGAGTTTGCTGGAAAAGGCCTCACGTTTTCCATAGGAGGCCAGATCAGCTTTGATGTCTTTCCTGATGGATGGGAC AAGAGATACTGTCTGCGACATGTGGAAAATGACGGTTATAAGACCATTTATTTCTTTGGAGACAAAACTATGCCAGGTAATCAGGAAGCA GCCGCTGCCCCTGACACAATGGCTCAGCCTTACGCTTCGGCCCAGTTTGCTCCCCCGCAGAACGGTATCCCCGCGGAATACACGGCCCCT CATCCCCACCCCGCGCCAGAGTACACAGGCCAGACCACGGTTCCCGAGCACACATTAAACCTGTACCCTCCCGCCCAGACGCACTCCGAG CAGAGCCCGGCGGACACGAGCGCTCAGACCGTCTCTGGCACCGCCACACAGACAGATGACGCAGCACCGACGGATGGCCAGCCCCAGACA CAACCTTCTGAAAACACGGAAAACAAGTCTCAGCCCAAGCGGCTGCATGTCTCCAATATCCCCTTCAGGTTCCGGGATCCGGACCTCAGA CAAATGTTTGGTCAATTTGGTAAAATCTTAGATGTTGAAATTATTTTTAATGAGCGAGGCTCAAAGGGATTTGGTTTCGTAACTTTCGAA AATAGTGCCGATGCGGACAGGGCGAGGGAGAAATTACACGGCACCGTGGTAGAGGGCCGTAAAATCGAGGTAAATAATGCCACAGCACGT GTAATGACAAATAAAAAGACCGTCAACCCTTATACAAATGGCTGGAAATTGAATCCAGTTGTGGGTGCAGTCTACAGTCCCGAATTCTAT GCAGTGCCAGGCTTCCCGTATCCAGCAGCCACCGCCGCGGCCGCCTACCGAGGGGCGCACCTGCGAGGCCGCGGTCGCACCGTGTACAAC ACCTTCAGGGCCGCGGCGCCCCCGCCCCCGATCCCGGCCTACGGCGGTGTTGTTTACCAGGATGGATTTTATGGTGCAGACATTTATGGT GGTTATGCTGCATACCGCTACGCCCAGCCTACCCCTGCCACTGCCGCTGCCTACAGTGACAGTTACGGACGAGTTTATGCTGCCGACCCC TACCACCACGCACTTGCTCCAGCCCCCACCTACGGCGTTGGTGCCATGAATGCTTTTGCACCTTTGACTGATGCCAAGACTAGGAGCCAT GCTGATGATGTGGGTCTCGTTCTTTCTTCATTGCAGGCTAGTATATACCGAGGGGGATACAACCGTTTTGCTCCATACTAAATGACAAAA >66648_66648_5_PMM2-RBFOX1_PMM2_chr16_8906963_ENST00000268261_RBFOX1_chr16_7568149_ENST00000553186_length(amino acids)=574AA_BP=213 MAAPGPALCLFDVDGTLTAPRQKITKEMDDFLQKLRQKIKIGVVGGSDFEKVQEQLGNDVVEKYDYVFPENGLVAYKDGKLLCRQNIQSH LGEALIQDLINYCLSYIAKIKLPKKRGTFIEFRNGMLNVSPIGRSCSQEERIEFYELDKKENIRQKFVADLRKEFAGKGLTFSIGGQISF DVFPDGWDKRYCLRHVENDGYKTIYFFGDKTMPGNQEAAAAPDTMAQPYASAQFAPPQNGIPAEYTAPHPHPAPEYTGQTTVPEHTLNLY PPAQTHSEQSPADTSAQTVSGTATQTDDAAPTDGQPQTQPSENTENKSQPKRLHVSNIPFRFRDPDLRQMFGQFGKILDVEIIFNERGSK GFGFVTFENSADADRAREKLHGTVVEGRKIEVNNATARVMTNKKTVNPYTNGWKLNPVVGAVYSPEFYAVPGFPYPAATAAAAYRGAHLR GRGRTVYNTFRAAAPPPPIPAYGGVVYQDGFYGADIYGGYAAYRYAQPTPATAAAYSDSYGRVYAADPYHHALAPAPTYGVGAMNAFAPL -------------------------------------------------------------- >66648_66648_6_PMM2-RBFOX1_PMM2_chr16_8906963_ENST00000537352_RBFOX1_chr16_7568149_ENST00000422070_length(transcript)=1818nt_BP=486nt GCTAGAAACTGGGGACATGGCAGCGCCTGGCCCAGCGCTCTGCCTCTTCGACGTGGATGGGACCCTCACCGCCCCGCGGCAGAAAATTAC CAAAGAAATGGATGACTTCCTACAAAAATTGAGGCAGAAGATCAAAATCGGAGTGGTAGGCGGATCGGACTTTGAGAAAGTGCAGGAGCA ACTGGGAAATGATGGGGTACTTTCATTGAATTCCGAAATGGGATGTTAAACGTGTCCCCTATTGGAAGAAGCTGCAGCCAAGAAGAACGC ATTGAGTTCTACGAACTCGATAAAAAAGAAAATATAAGACAAAAGTTTGTAGCAGATCTACGGAAAGAGTTTGCTGGAAAAGGCCTCACG TTTTCCATAGGAGGCCAGATCAGCTTTGATGTCTTTCCTGATGGATGGGACAAGAGATACTGTCTGCGACATGTGGAAAATGACGGTTAT AAGACCATTTATTTCTTTGGAGACAAAACTATGCCAGGTAATCAGGAAGCAGCCGCTGCCCCTGACACAATGGCTCAGCCTTACGCTTCG GCCCAGTTTGCTCCCCCGCAGAACGGTATCCCCGCGGAATACACGGCCCCTCATCCCCACCCCGCGCCAGAGTACACAGGCCAGACCACG GTTCCCGAGCACACATTAAACCTGTACCCTCCCGCCCAGACGCACTCCGAGCAGAGCCCGGCGGACACGAGCGCTCAGACCGTCTCTGGC ACCGCCACACAGACAGATGACGCAGCACCGACGGATGGCCAGCCCCAGACACAACCTTCTGAAAACACGGAAAACAAGTCTCAGCCCAAG CGGCTGCATGTCTCCAATATCCCCTTCAGGTTCCGGGATCCGGACCTCAGACAAATGTTTGGTCAATTTGGTAAAATCTTAGATGTTGAA ATTATTTTTAATGAGCGAGGCTCAAAGGGATTTGGTTTCGTAACTTTCGAAAATAGTGCCGATGCGGACAGGGCGAGGGAGAAATTACAC GGCACCGTGGTAGAGGGCCGTAAAATCGAGGTAAATAATGCCACAGCACGTGTAATGACAAATAAAAAGACCGTCAACCCTTATACAAAT GGCTGGAAATTGAATCCAGTTGTGGGTGCAGTCTACAGTCCCGAATTCTATGCAGGCACGGTCCTGTTGTGCCAGGCCAACCAGGAGGGA TCTTCCATGTACAGTGCCCCCAGTTCACTTGTATATACTTCTGCAATGCCAGGCTTCCCGTATCCAGCAGCCACCGCCGCGGCCGCCTAC CGAGGGGCGCACCTGCGAGGCCGCGGTCGCACCGTGTACAACACCTTCAGGGCCGCGGCGCCCCCGCCCCCGATCCCGGCCTACGGCGGT GTTGTTTACCAGGATGGATTTTATGGTGCAGACATTTATGGTGGTTATGCTGCATACCGCTACGCCCAGCCTACCCCTGCCACTGCCGCT GCCTACAGTGACAGTTACGGACGAGTTTATGCTGCCGACCCCTACCACCACGCACTTGCTCCAGCCCCCACCTACGGCGTTGGTGCCATG CCCCAAGGTTCCAGCCCCAGCACAGACTTCAGAGGAGCTAAGCTGCACACTTCCAGGCCTCTGCTGTCAGGCAGCTGAGAATCTGACTGC CTCTCCTCCCCTATTACAATTCATGTTTAAAGTCATAGTCGCCCAGGAAAGAAAATAGAGAGGGGCACACTTTGTGTGTGTACCTAGTAC ATAAGAAAGTAGAAGGAATCAGCTGGGTTTGGGGGTTGCCTTTTGTTTTGGGGCAGGTCTGGGTTTTTGTTTTGGGAGGGGGTGGGGGGA >66648_66648_6_PMM2-RBFOX1_PMM2_chr16_8906963_ENST00000537352_RBFOX1_chr16_7568149_ENST00000422070_length(amino acids)=461AA_BP=88 MLNVSPIGRSCSQEERIEFYELDKKENIRQKFVADLRKEFAGKGLTFSIGGQISFDVFPDGWDKRYCLRHVENDGYKTIYFFGDKTMPGN QEAAAAPDTMAQPYASAQFAPPQNGIPAEYTAPHPHPAPEYTGQTTVPEHTLNLYPPAQTHSEQSPADTSAQTVSGTATQTDDAAPTDGQ PQTQPSENTENKSQPKRLHVSNIPFRFRDPDLRQMFGQFGKILDVEIIFNERGSKGFGFVTFENSADADRAREKLHGTVVEGRKIEVNNA TARVMTNKKTVNPYTNGWKLNPVVGAVYSPEFYAGTVLLCQANQEGSSMYSAPSSLVYTSAMPGFPYPAATAAAAYRGAHLRGRGRTVYN TFRAAAPPPPIPAYGGVVYQDGFYGADIYGGYAAYRYAQPTPATAAAYSDSYGRVYAADPYHHALAPAPTYGVGAMPQGSSPSTDFRGAK -------------------------------------------------------------- >66648_66648_7_PMM2-RBFOX1_PMM2_chr16_8906963_ENST00000537352_RBFOX1_chr16_7568149_ENST00000535565_length(transcript)=1629nt_BP=486nt GCTAGAAACTGGGGACATGGCAGCGCCTGGCCCAGCGCTCTGCCTCTTCGACGTGGATGGGACCCTCACCGCCCCGCGGCAGAAAATTAC CAAAGAAATGGATGACTTCCTACAAAAATTGAGGCAGAAGATCAAAATCGGAGTGGTAGGCGGATCGGACTTTGAGAAAGTGCAGGAGCA ACTGGGAAATGATGGGGTACTTTCATTGAATTCCGAAATGGGATGTTAAACGTGTCCCCTATTGGAAGAAGCTGCAGCCAAGAAGAACGC ATTGAGTTCTACGAACTCGATAAAAAAGAAAATATAAGACAAAAGTTTGTAGCAGATCTACGGAAAGAGTTTGCTGGAAAAGGCCTCACG TTTTCCATAGGAGGCCAGATCAGCTTTGATGTCTTTCCTGATGGATGGGACAAGAGATACTGTCTGCGACATGTGGAAAATGACGGTTAT AAGACCATTTATTTCTTTGGAGACAAAACTATGCCAGGTAATCAGGAAGCAGCCGCTGCCCCTGACACAATGGCTCAGCCTTACGCTTCG GCCCAGTTTGCTCCCCCGCAGAACGGTATCCCCGCGGAATACACGGCCCCTCATCCCCACCCCGCGCCAGAGTACACAGGCCAGACCACG GTTCCCGAGCACACATTAAACCTGTACCCTCCCGCCCAGACGCACTCCGAGCAGAGCCCGGCGGACACGAGCGCTCAGACCGTCTCTGGC ACCGCCACACAATTTGGTAAAATCTTAGATGTTGAAATTATTTTTAATGAGCGAGGCTCAAAGGTAAATAATGCCACAGCACGTGTAATG ACAAATAAAAAGACCGTCAACCCTTATACAAATGGCTGGAAATTGAATCCAGTTGTGGGTGCAGTCTACAGTCCCGAATTCTATGCAGGC ACGGTCCTGTTGTGCCAGGCCAACCAGGAGGGATCTTCCATGTACAGTGCCCCCAGTTCACTTGTATATACTTCTGCAATGCCAGGCTTC CCGTATCCAGCAGCCACCGCCGCGGCCGCCTACCGAGGGGCGCACCTGCGAGGCCGCGGTCGCACCGTGTACAACACCTTCAGGGCCGCG GCGCCCCCGCCCCCGATCCCGGCCTACGGCGGTGTTGTTTACCAGGATGGATTTTATGGTGCAGACATTTATGGTGGTTATGCTGCATAC CGCTACGCCCAGCCTACCCCTGCCACTGCCGCTGCCTACAGTGACAGAAATCAGTTCGTCTTCGTTGCAGCAGATGAAATTTCTTGTAAC ACCTCTGCAGTTACGGACGAGTTTATGCTGCCGACCCCTACCACCACGCACTTGCTCCAGCCCCCACCTACGGCGTTGGTGCCATGCCCC AAGGTTCCAGCCCCAGCACAGACTTCAGAGGAGCTAAGCTGCACACTTCCAGGCCTCTGCTGTCAGGCAGCTGAGAATCTGACTGCCTCT CCTCCCCTATTACAATTCATGTTTAAAGTCATAGTCGCCCAGGAAAGAAAATAGAGAGGGGCACACTTTGTGTGTGTACCTAGTACATAA GAAAGTAGAAGGAATCAGCTGGGTTTGGGGGTTGCCTTTTGTTTTGGGGCAGGTCTGGGTTTTTGTTTTGGGAGGGGGTGGGGGGAGGGT >66648_66648_7_PMM2-RBFOX1_PMM2_chr16_8906963_ENST00000537352_RBFOX1_chr16_7568149_ENST00000535565_length(amino acids)=423AA_BP=88 MLNVSPIGRSCSQEERIEFYELDKKENIRQKFVADLRKEFAGKGLTFSIGGQISFDVFPDGWDKRYCLRHVENDGYKTIYFFGDKTMPGN QEAAAAPDTMAQPYASAQFAPPQNGIPAEYTAPHPHPAPEYTGQTTVPEHTLNLYPPAQTHSEQSPADTSAQTVSGTATQFGKILDVEII FNERGSKVNNATARVMTNKKTVNPYTNGWKLNPVVGAVYSPEFYAGTVLLCQANQEGSSMYSAPSSLVYTSAMPGFPYPAATAAAAYRGA HLRGRGRTVYNTFRAAAPPPPIPAYGGVVYQDGFYGADIYGGYAAYRYAQPTPATAAAYSDRNQFVFVAADEISCNTSAVTDEFMLPTPT -------------------------------------------------------------- >66648_66648_8_PMM2-RBFOX1_PMM2_chr16_8906963_ENST00000537352_RBFOX1_chr16_7568149_ENST00000547372_length(transcript)=3548nt_BP=486nt GCTAGAAACTGGGGACATGGCAGCGCCTGGCCCAGCGCTCTGCCTCTTCGACGTGGATGGGACCCTCACCGCCCCGCGGCAGAAAATTAC CAAAGAAATGGATGACTTCCTACAAAAATTGAGGCAGAAGATCAAAATCGGAGTGGTAGGCGGATCGGACTTTGAGAAAGTGCAGGAGCA ACTGGGAAATGATGGGGTACTTTCATTGAATTCCGAAATGGGATGTTAAACGTGTCCCCTATTGGAAGAAGCTGCAGCCAAGAAGAACGC ATTGAGTTCTACGAACTCGATAAAAAAGAAAATATAAGACAAAAGTTTGTAGCAGATCTACGGAAAGAGTTTGCTGGAAAAGGCCTCACG TTTTCCATAGGAGGCCAGATCAGCTTTGATGTCTTTCCTGATGGATGGGACAAGAGATACTGTCTGCGACATGTGGAAAATGACGGTTAT AAGACCATTTATTTCTTTGGAGACAAAACTATGCCAGGTAATCAGGAAGCAGCCGCTGCCCCTGACACAATGGCTCAGCCTTACGCTTCG GCCCAGTTTGCTCCCCCGCAGAACGGTATCCCCGCGGAATACACGGCCCCTCATCCCCACCCCGCGCCAGAGTACACAGGCCAGACCACG GTTCCCGAGCACACATTAAACCTGTACCCTCCCGCCCAGACGCACTCCGAGCAGAGCCCGGCGGACACGAGCGCTCAGACCGTCTCTGGC ACCGCCACACAGACAGATGACGCAGCACCGACGGATGGCCAGCCCCAGACACAACCTTCTGAAAACACGGAAAACAAGTCTCAGCCCAAG CGGCTGCATGTCTCCAATATCCCCTTCAGGTTCCGGGATCCGGACCTCAGACAAATGTTTGGTCAATTTGGTAAAATCTTAGATGTTGAA ATTATTTTTAATGAGCGAGGCTCAAAGGGATTTGGTTTCGTAACTTTCGAAAATAGTGCCGATGCGGACAGGGCGAGGGAGAAATTACAC GGCACCGTGGTAGAGGGCCGTAAAATCGAGGTAAATAATGCCACAGCACGTGTAATGACAAATAAAAAGACCGTCAACCCTTATACAAAT GGCTGGAAATTGAATCCAGTTGTGGGTGCAGTCTACAGTCCCGAATTCTATGCAGGCACGGTCCTGTTGTGCCAGGCCAACCAGGAGGGA TCTTCCATGTACAGTGCCCCCAGTTCACTTGTATATACTTCTGCAATGCCAGGCTTCCCGTATCCAGCAGCCACCGCCGCGGCCGCCTAC CGAGGGGCGCACCTGCGAGGCCGCGGTCGCACCGTGTACAACACCTTCAGGGCCGCGGCGCCCCCGCCCCCGATCCCGGCCTACGGCGGT GTTGTTTACCAGGATGGATTTTATGGTGCAGACATTTATGGTGGTTATGCTGCATACCGCTACGCCCAGCCTACCCCTGCCACTGCCGCT GCCTACAGTGACAGAAATCAGTTCGTCTTCGTTGCAGCAGATGAAATTTCTTGTAACACCTCTGCAGTTACGGACGAGTTTATGCTGCCG ACCCCTACCACCACGCACTTGCTCCAGCCCCCACCTACGGCGTTGGTGCCATGCCCCAAGGTTCCAGCCCCAGCACAGACTTCAGAGGAG CTAAGCTGCACACTTCCAGGCCTCTGCTGTCAGGCAGCTGAGAATCTGACTGCCTCTCCTCCCCTATTACAATTCATGTTTAAAGTCATA GTCGCCCAGGAAAGAAAATAGAGAGGGGCACACTTTGTGTGTGTACCTAGTACATAAGAAAGTAGAAGGAATCAGCTGGGTTTGGGGGTT GCCTTTTGTTTTGGGGCAGGTCTGGGTTTTTGTTTTGGGAGGGGGTGGGGGGAGGGTAAAAAATGGGAGGTAAGGGTGGGGTGAACTTGC CTGTACTTGTTCAAACTTCTATGCACTGAAACTCTTGAGTACAGTAAGACGTGCCCATCACGTGAGAGCATATGCAATCATTACAAAGCT TTGGCATGCAGTTTTCTGCTTGGATCAAGAATATCAGTCCTTACCCTAAAAATGAATCCCCATAGGCATTCATTTGAATTGCCAATACTT TTAGAAAAAGGAAATCGTTAAGTGCCACCTTGTAGCCATTAAAACCATGGCCGGACAGTTCACTGAAGCTCAGTCATAGAAATTCAGCCA TGATTTGGAAGCATTGTTTTGCACAAGCTTAATTACATCAAGCAATTCATCTGTACAACTCCACAACTCCCTTCTCAAGATCAGATTCCA TACAGCTTACAGAGCCAAGTTAAGTAAGAAGTAGGTTGAGATTTTCATCCCAATTCTGCATTCAACAACTCTGCTTCAACACCTAGTCCA CATGAGGAATGTGTTGGAGAGTTGAATTACATTCAACAACTGGTCCAAATTCAACCTCAAGTGCAGATTATTCTGTTATAAAAAAATGAG ACAGTGAAAATCCTTCCATTGTCCAGCTTATAATAGAGTCCTTTTAGCTAAGAGGACTGGCTGACAGAATTTGGTTTTGCAGGGAATTTC TTTAGGAGGAGCTATTGGGGAAGGTCAGGAATGGCCCTATCTTTAGTTCTCCAAGAATGACCTGGGATGGGTAGGGGGTGCCTCCATTTC GGTTGGTTTTGAGTGTCTATTTTTCACATTAGTCTTTTTGATGATCCACATGTTGCAAAAGGAAAATGTAAAAAACACACCCCTCAAATT GCTTTGTTTCAGAATGCTTTTGCACCTTTGACTGATGCCAAGACTAGGAGCCATGCTGATGATGTGGGTCTCGTTCTTTCTTCATTGCAG GCTAGTATATACCGAGGGGGATACAACCGTTTTGCTCCATACTAAATGACAAAACCATAAAAACCTTCCAATGTGGGGAGAAAGGAAGCT TTCCGAGGCCTGAGTATTGCAATACATGCAGTAGTACATCATTTTAGCAACTCTAAAAAAAAAAAAAATACAAATAAAAAGGAAAAAAAA TTACATTTTTTATCTTATACCTCAGATATTTTGTTCTGTGTATTTTAATATTGTGGGTCTTTAATTTCTGAAGGTTCCGTAGTTTGGTTG CTGGCTGTAGGAGTTTTTGTGGTTGATCTAGACAGATGCTAGATAATGAATAAAAACTGGTTTAGGGCCATATCCAGAGTGCTATATTAT GTAAATGAATTATATATGCTGAATATTAAGCTACTGGGGTTATCAGCTATTTGGGAAGAGTGTAAGTGACTACAGTAGTCATTTTTTTCT GCACCTGCATTATTTTATTTTGCGAAAGGGGAGGTTGGGAGGGGCTTAGGGGATTGGAACTGGGGTTTGGCTGAAAGAAAAAAAAAAAAA TGTAACTGATGAATCTAAACGACCCACTGCACCAACAATCATTTATCAATGGTTCTAAGTTACTCATTGCCAGTTCAAGCCAAAGGTCAT GTTGTTAAGGGGGTGCTTCTAGTAGCACTTGTGCATCTGAGTTGAATGAAGCTGTGCAAACCCACCCTTTAAACCATTCCACCCGGCAGT >66648_66648_8_PMM2-RBFOX1_PMM2_chr16_8906963_ENST00000537352_RBFOX1_chr16_7568149_ENST00000547372_length(amino acids)=502AA_BP=88 MLNVSPIGRSCSQEERIEFYELDKKENIRQKFVADLRKEFAGKGLTFSIGGQISFDVFPDGWDKRYCLRHVENDGYKTIYFFGDKTMPGN QEAAAAPDTMAQPYASAQFAPPQNGIPAEYTAPHPHPAPEYTGQTTVPEHTLNLYPPAQTHSEQSPADTSAQTVSGTATQTDDAAPTDGQ PQTQPSENTENKSQPKRLHVSNIPFRFRDPDLRQMFGQFGKILDVEIIFNERGSKGFGFVTFENSADADRAREKLHGTVVEGRKIEVNNA TARVMTNKKTVNPYTNGWKLNPVVGAVYSPEFYAGTVLLCQANQEGSSMYSAPSSLVYTSAMPGFPYPAATAAAAYRGAHLRGRGRTVYN TFRAAAPPPPIPAYGGVVYQDGFYGADIYGGYAAYRYAQPTPATAAAYSDRNQFVFVAADEISCNTSAVTDEFMLPTPTTTHLLQPPPTA -------------------------------------------------------------- >66648_66648_9_PMM2-RBFOX1_PMM2_chr16_8906963_ENST00000537352_RBFOX1_chr16_7568149_ENST00000550418_length(transcript)=1748nt_BP=486nt GCTAGAAACTGGGGACATGGCAGCGCCTGGCCCAGCGCTCTGCCTCTTCGACGTGGATGGGACCCTCACCGCCCCGCGGCAGAAAATTAC CAAAGAAATGGATGACTTCCTACAAAAATTGAGGCAGAAGATCAAAATCGGAGTGGTAGGCGGATCGGACTTTGAGAAAGTGCAGGAGCA ACTGGGAAATGATGGGGTACTTTCATTGAATTCCGAAATGGGATGTTAAACGTGTCCCCTATTGGAAGAAGCTGCAGCCAAGAAGAACGC ATTGAGTTCTACGAACTCGATAAAAAAGAAAATATAAGACAAAAGTTTGTAGCAGATCTACGGAAAGAGTTTGCTGGAAAAGGCCTCACG TTTTCCATAGGAGGCCAGATCAGCTTTGATGTCTTTCCTGATGGATGGGACAAGAGATACTGTCTGCGACATGTGGAAAATGACGGTTAT AAGACCATTTATTTCTTTGGAGACAAAACTATGCCAGGTAATCAGGAAGCAGCCGCTGCCCCTGACACAATGGCTCAGCCTTACGCTTCG GCCCAGTTTGCTCCCCCGCAGAACGGTATCCCCGCGGAATACACGGCCCCTCATCCCCACCCCGCGCCAGAGTACACAGGCCAGACCACG GTTCCCGAGCACACATTAAACCTGTACCCTCCCGCCCAGACGCACTCCGAGCAGAGCCCGGCGGACACGAGCGCTCAGACCGTCTCTGGC ACCGCCACACAGACAGATGACGCAGCACCGACGGATGGCCAGCCCCAGACACAACCTTCTGAAAACACGGAAAACAAGTCTCAGCCCAAG CGGCTGCATGTCTCCAATATCCCCTTCAGGTTCCGGGATCCGGACCTCAGACAAATGTTTGGTCAATTTGGTAAAATCTTAGATGTTGAA ATTATTTTTAATGAGCGAGGCTCAAAGGGATTTGGTTTCGTAACTTTCGAAAATAGTGCCGATGCGGACAGGGCGAGGGAGAAATTACAC GGCACCGTGGTAGAGGGCCGTAAAATCGAGGTAAATAATGCCACAGCACGTGTAATGACAAATAAAAAGACCGTCAACCCTTATACAAAT GGCTGGAAATTGAATCCAGTTGTGGGTGCAGTCTACAGTCCCGAATTCTATGCAGGCACGGTCCTGTTGTGCCAGGCCAACCAGGAGGGA TCTTCCATGTACAGTGCCCCCAGTTCACTTGTATATACTTCTGCAATGCCAGGCTTCCCGTATCCAGCAGCCACCGCCGCGGCCGCCTAC CGAGGGGCGCACCTGCGAGGCCGCGGTCGCACCGTGTACAACACCTTCAGGGCCGCGGCGCCCCCGCCCCCGATCCCGGCCTACGGCGGT GTTGTTTACCAGGATGGATTTTATGGTGCAGACATTTATGGTGGTTATGCTGCATACCGCTACGCCCAGCCTACCCCTGCCACTGCCGCT GCCTACAGTGACAGTTACGGACGAGTTTATGCTGCCGACCCCTACCACCACGCACTTGCTCCAGCCCCCACCTACGGCGTTGGTGCCATG AATGCTTTTGCACCTTTGACTGATGCCAAGACTAGGAGCCATGCTGATGATGTGGGTCTCGTTCTTTCTTCATTGCAGGCTAGTATATAC CGAGGGGGATACAACCGTTTTGCTCCATACTAAATGACAAAACCATAAAAACCTTCCAATGTGGGGAGAAAGGAAGCTTTCCGAGGCCTG >66648_66648_9_PMM2-RBFOX1_PMM2_chr16_8906963_ENST00000537352_RBFOX1_chr16_7568149_ENST00000550418_length(amino acids)=476AA_BP=88 MLNVSPIGRSCSQEERIEFYELDKKENIRQKFVADLRKEFAGKGLTFSIGGQISFDVFPDGWDKRYCLRHVENDGYKTIYFFGDKTMPGN QEAAAAPDTMAQPYASAQFAPPQNGIPAEYTAPHPHPAPEYTGQTTVPEHTLNLYPPAQTHSEQSPADTSAQTVSGTATQTDDAAPTDGQ PQTQPSENTENKSQPKRLHVSNIPFRFRDPDLRQMFGQFGKILDVEIIFNERGSKGFGFVTFENSADADRAREKLHGTVVEGRKIEVNNA TARVMTNKKTVNPYTNGWKLNPVVGAVYSPEFYAGTVLLCQANQEGSSMYSAPSSLVYTSAMPGFPYPAATAAAAYRGAHLRGRGRTVYN TFRAAAPPPPIPAYGGVVYQDGFYGADIYGGYAAYRYAQPTPATAAAYSDSYGRVYAADPYHHALAPAPTYGVGAMNAFAPLTDAKTRSH -------------------------------------------------------------- >66648_66648_10_PMM2-RBFOX1_PMM2_chr16_8906963_ENST00000537352_RBFOX1_chr16_7568149_ENST00000553186_length(transcript)=1667nt_BP=486nt GCTAGAAACTGGGGACATGGCAGCGCCTGGCCCAGCGCTCTGCCTCTTCGACGTGGATGGGACCCTCACCGCCCCGCGGCAGAAAATTAC CAAAGAAATGGATGACTTCCTACAAAAATTGAGGCAGAAGATCAAAATCGGAGTGGTAGGCGGATCGGACTTTGAGAAAGTGCAGGAGCA ACTGGGAAATGATGGGGTACTTTCATTGAATTCCGAAATGGGATGTTAAACGTGTCCCCTATTGGAAGAAGCTGCAGCCAAGAAGAACGC ATTGAGTTCTACGAACTCGATAAAAAAGAAAATATAAGACAAAAGTTTGTAGCAGATCTACGGAAAGAGTTTGCTGGAAAAGGCCTCACG TTTTCCATAGGAGGCCAGATCAGCTTTGATGTCTTTCCTGATGGATGGGACAAGAGATACTGTCTGCGACATGTGGAAAATGACGGTTAT AAGACCATTTATTTCTTTGGAGACAAAACTATGCCAGGTAATCAGGAAGCAGCCGCTGCCCCTGACACAATGGCTCAGCCTTACGCTTCG GCCCAGTTTGCTCCCCCGCAGAACGGTATCCCCGCGGAATACACGGCCCCTCATCCCCACCCCGCGCCAGAGTACACAGGCCAGACCACG GTTCCCGAGCACACATTAAACCTGTACCCTCCCGCCCAGACGCACTCCGAGCAGAGCCCGGCGGACACGAGCGCTCAGACCGTCTCTGGC ACCGCCACACAGACAGATGACGCAGCACCGACGGATGGCCAGCCCCAGACACAACCTTCTGAAAACACGGAAAACAAGTCTCAGCCCAAG CGGCTGCATGTCTCCAATATCCCCTTCAGGTTCCGGGATCCGGACCTCAGACAAATGTTTGGTCAATTTGGTAAAATCTTAGATGTTGAA ATTATTTTTAATGAGCGAGGCTCAAAGGGATTTGGTTTCGTAACTTTCGAAAATAGTGCCGATGCGGACAGGGCGAGGGAGAAATTACAC GGCACCGTGGTAGAGGGCCGTAAAATCGAGGTAAATAATGCCACAGCACGTGTAATGACAAATAAAAAGACCGTCAACCCTTATACAAAT GGCTGGAAATTGAATCCAGTTGTGGGTGCAGTCTACAGTCCCGAATTCTATGCAGTGCCAGGCTTCCCGTATCCAGCAGCCACCGCCGCG GCCGCCTACCGAGGGGCGCACCTGCGAGGCCGCGGTCGCACCGTGTACAACACCTTCAGGGCCGCGGCGCCCCCGCCCCCGATCCCGGCC TACGGCGGTGTTGTTTACCAGGATGGATTTTATGGTGCAGACATTTATGGTGGTTATGCTGCATACCGCTACGCCCAGCCTACCCCTGCC ACTGCCGCTGCCTACAGTGACAGTTACGGACGAGTTTATGCTGCCGACCCCTACCACCACGCACTTGCTCCAGCCCCCACCTACGGCGTT GGTGCCATGAATGCTTTTGCACCTTTGACTGATGCCAAGACTAGGAGCCATGCTGATGATGTGGGTCTCGTTCTTTCTTCATTGCAGGCT AGTATATACCGAGGGGGATACAACCGTTTTGCTCCATACTAAATGACAAAACCATAAAAACCTTCCAATGTGGGGAGAAAGGAAGCTTTC >66648_66648_10_PMM2-RBFOX1_PMM2_chr16_8906963_ENST00000537352_RBFOX1_chr16_7568149_ENST00000553186_length(amino acids)=449AA_BP=88 MLNVSPIGRSCSQEERIEFYELDKKENIRQKFVADLRKEFAGKGLTFSIGGQISFDVFPDGWDKRYCLRHVENDGYKTIYFFGDKTMPGN QEAAAAPDTMAQPYASAQFAPPQNGIPAEYTAPHPHPAPEYTGQTTVPEHTLNLYPPAQTHSEQSPADTSAQTVSGTATQTDDAAPTDGQ PQTQPSENTENKSQPKRLHVSNIPFRFRDPDLRQMFGQFGKILDVEIIFNERGSKGFGFVTFENSADADRAREKLHGTVVEGRKIEVNNA TARVMTNKKTVNPYTNGWKLNPVVGAVYSPEFYAVPGFPYPAATAAAAYRGAHLRGRGRTVYNTFRAAAPPPPIPAYGGVVYQDGFYGAD -------------------------------------------------------------- >66648_66648_11_PMM2-RBFOX1_PMM2_chr16_8906963_ENST00000539622_RBFOX1_chr16_7568149_ENST00000422070_length(transcript)=1935nt_BP=603nt GTGCCAACGTGTCTTGTAAGGTGCGGCTAGAAACTGGGGACATGGCAGCGCCTGGCCCAGCGCTCTGCCTCTTCGACGTGGATGGGACCC TCACCGCCCCGCGGCAGAAAATTACCAAAGAAATGGATGACTTCCTACAAAAATTGAGGCAGAAGATCAAAATCGGAGTGGTAGGCGGAT CGGACTTTGAGAAAGTGCAGGAGCAACTGGGAAATGATGAATATTCAAAGTCATCTGGGTGAGGCCCTAATCCAAGATTTAATCAACTAC TGTCTGAGCTACATTGCGAAAATTAAACTCCCGAAGAAGAGGGGTACTTTCATTGAATTCCGAAATGGGATGTTAAACGTGTCCCCTATT GGAAGAAGCTGCAGCCAAGAAGAACGCATTGAGTTCTACGAACTCGATAAAAAAGAAAATATAAGACAAAAGTTTGTAGCAGATCTACGG AAAGAGTTTGCTGGAAAAGGCCTCACGTTTTCCATAGGAGGCCAGATCAGCTTTGATGTCTTTCCTGATGGATGGGACAAGAGATACTGT CTGCGACATGTGGAAAATGACGGTTATAAGACCATTTATTTCTTTGGAGACAAAACTATGCCAGGTAATCAGGAAGCAGCCGCTGCCCCT GACACAATGGCTCAGCCTTACGCTTCGGCCCAGTTTGCTCCCCCGCAGAACGGTATCCCCGCGGAATACACGGCCCCTCATCCCCACCCC GCGCCAGAGTACACAGGCCAGACCACGGTTCCCGAGCACACATTAAACCTGTACCCTCCCGCCCAGACGCACTCCGAGCAGAGCCCGGCG GACACGAGCGCTCAGACCGTCTCTGGCACCGCCACACAGACAGATGACGCAGCACCGACGGATGGCCAGCCCCAGACACAACCTTCTGAA AACACGGAAAACAAGTCTCAGCCCAAGCGGCTGCATGTCTCCAATATCCCCTTCAGGTTCCGGGATCCGGACCTCAGACAAATGTTTGGT CAATTTGGTAAAATCTTAGATGTTGAAATTATTTTTAATGAGCGAGGCTCAAAGGGATTTGGTTTCGTAACTTTCGAAAATAGTGCCGAT GCGGACAGGGCGAGGGAGAAATTACACGGCACCGTGGTAGAGGGCCGTAAAATCGAGGTAAATAATGCCACAGCACGTGTAATGACAAAT AAAAAGACCGTCAACCCTTATACAAATGGCTGGAAATTGAATCCAGTTGTGGGTGCAGTCTACAGTCCCGAATTCTATGCAGGCACGGTC CTGTTGTGCCAGGCCAACCAGGAGGGATCTTCCATGTACAGTGCCCCCAGTTCACTTGTATATACTTCTGCAATGCCAGGCTTCCCGTAT CCAGCAGCCACCGCCGCGGCCGCCTACCGAGGGGCGCACCTGCGAGGCCGCGGTCGCACCGTGTACAACACCTTCAGGGCCGCGGCGCCC CCGCCCCCGATCCCGGCCTACGGCGGTGTTGTTTACCAGGATGGATTTTATGGTGCAGACATTTATGGTGGTTATGCTGCATACCGCTAC GCCCAGCCTACCCCTGCCACTGCCGCTGCCTACAGTGACAGTTACGGACGAGTTTATGCTGCCGACCCCTACCACCACGCACTTGCTCCA GCCCCCACCTACGGCGTTGGTGCCATGCCCCAAGGTTCCAGCCCCAGCACAGACTTCAGAGGAGCTAAGCTGCACACTTCCAGGCCTCTG CTGTCAGGCAGCTGAGAATCTGACTGCCTCTCCTCCCCTATTACAATTCATGTTTAAAGTCATAGTCGCCCAGGAAAGAAAATAGAGAGG GGCACACTTTGTGTGTGTACCTAGTACATAAGAAAGTAGAAGGAATCAGCTGGGTTTGGGGGTTGCCTTTTGTTTTGGGGCAGGTCTGGG >66648_66648_11_PMM2-RBFOX1_PMM2_chr16_8906963_ENST00000539622_RBFOX1_chr16_7568149_ENST00000422070_length(amino acids)=512AA_BP=139 MRKCRSNWEMMNIQSHLGEALIQDLINYCLSYIAKIKLPKKRGTFIEFRNGMLNVSPIGRSCSQEERIEFYELDKKENIRQKFVADLRKE FAGKGLTFSIGGQISFDVFPDGWDKRYCLRHVENDGYKTIYFFGDKTMPGNQEAAAAPDTMAQPYASAQFAPPQNGIPAEYTAPHPHPAP EYTGQTTVPEHTLNLYPPAQTHSEQSPADTSAQTVSGTATQTDDAAPTDGQPQTQPSENTENKSQPKRLHVSNIPFRFRDPDLRQMFGQF GKILDVEIIFNERGSKGFGFVTFENSADADRAREKLHGTVVEGRKIEVNNATARVMTNKKTVNPYTNGWKLNPVVGAVYSPEFYAGTVLL CQANQEGSSMYSAPSSLVYTSAMPGFPYPAATAAAAYRGAHLRGRGRTVYNTFRAAAPPPPIPAYGGVVYQDGFYGADIYGGYAAYRYAQ -------------------------------------------------------------- >66648_66648_12_PMM2-RBFOX1_PMM2_chr16_8906963_ENST00000539622_RBFOX1_chr16_7568149_ENST00000535565_length(transcript)=1746nt_BP=603nt GTGCCAACGTGTCTTGTAAGGTGCGGCTAGAAACTGGGGACATGGCAGCGCCTGGCCCAGCGCTCTGCCTCTTCGACGTGGATGGGACCC TCACCGCCCCGCGGCAGAAAATTACCAAAGAAATGGATGACTTCCTACAAAAATTGAGGCAGAAGATCAAAATCGGAGTGGTAGGCGGAT CGGACTTTGAGAAAGTGCAGGAGCAACTGGGAAATGATGAATATTCAAAGTCATCTGGGTGAGGCCCTAATCCAAGATTTAATCAACTAC TGTCTGAGCTACATTGCGAAAATTAAACTCCCGAAGAAGAGGGGTACTTTCATTGAATTCCGAAATGGGATGTTAAACGTGTCCCCTATT GGAAGAAGCTGCAGCCAAGAAGAACGCATTGAGTTCTACGAACTCGATAAAAAAGAAAATATAAGACAAAAGTTTGTAGCAGATCTACGG AAAGAGTTTGCTGGAAAAGGCCTCACGTTTTCCATAGGAGGCCAGATCAGCTTTGATGTCTTTCCTGATGGATGGGACAAGAGATACTGT CTGCGACATGTGGAAAATGACGGTTATAAGACCATTTATTTCTTTGGAGACAAAACTATGCCAGGTAATCAGGAAGCAGCCGCTGCCCCT GACACAATGGCTCAGCCTTACGCTTCGGCCCAGTTTGCTCCCCCGCAGAACGGTATCCCCGCGGAATACACGGCCCCTCATCCCCACCCC GCGCCAGAGTACACAGGCCAGACCACGGTTCCCGAGCACACATTAAACCTGTACCCTCCCGCCCAGACGCACTCCGAGCAGAGCCCGGCG GACACGAGCGCTCAGACCGTCTCTGGCACCGCCACACAATTTGGTAAAATCTTAGATGTTGAAATTATTTTTAATGAGCGAGGCTCAAAG GTAAATAATGCCACAGCACGTGTAATGACAAATAAAAAGACCGTCAACCCTTATACAAATGGCTGGAAATTGAATCCAGTTGTGGGTGCA GTCTACAGTCCCGAATTCTATGCAGGCACGGTCCTGTTGTGCCAGGCCAACCAGGAGGGATCTTCCATGTACAGTGCCCCCAGTTCACTT GTATATACTTCTGCAATGCCAGGCTTCCCGTATCCAGCAGCCACCGCCGCGGCCGCCTACCGAGGGGCGCACCTGCGAGGCCGCGGTCGC ACCGTGTACAACACCTTCAGGGCCGCGGCGCCCCCGCCCCCGATCCCGGCCTACGGCGGTGTTGTTTACCAGGATGGATTTTATGGTGCA GACATTTATGGTGGTTATGCTGCATACCGCTACGCCCAGCCTACCCCTGCCACTGCCGCTGCCTACAGTGACAGAAATCAGTTCGTCTTC GTTGCAGCAGATGAAATTTCTTGTAACACCTCTGCAGTTACGGACGAGTTTATGCTGCCGACCCCTACCACCACGCACTTGCTCCAGCCC CCACCTACGGCGTTGGTGCCATGCCCCAAGGTTCCAGCCCCAGCACAGACTTCAGAGGAGCTAAGCTGCACACTTCCAGGCCTCTGCTGT CAGGCAGCTGAGAATCTGACTGCCTCTCCTCCCCTATTACAATTCATGTTTAAAGTCATAGTCGCCCAGGAAAGAAAATAGAGAGGGGCA CACTTTGTGTGTGTACCTAGTACATAAGAAAGTAGAAGGAATCAGCTGGGTTTGGGGGTTGCCTTTTGTTTTGGGGCAGGTCTGGGTTTT >66648_66648_12_PMM2-RBFOX1_PMM2_chr16_8906963_ENST00000539622_RBFOX1_chr16_7568149_ENST00000535565_length(amino acids)=474AA_BP=139 MRKCRSNWEMMNIQSHLGEALIQDLINYCLSYIAKIKLPKKRGTFIEFRNGMLNVSPIGRSCSQEERIEFYELDKKENIRQKFVADLRKE FAGKGLTFSIGGQISFDVFPDGWDKRYCLRHVENDGYKTIYFFGDKTMPGNQEAAAAPDTMAQPYASAQFAPPQNGIPAEYTAPHPHPAP EYTGQTTVPEHTLNLYPPAQTHSEQSPADTSAQTVSGTATQFGKILDVEIIFNERGSKVNNATARVMTNKKTVNPYTNGWKLNPVVGAVY SPEFYAGTVLLCQANQEGSSMYSAPSSLVYTSAMPGFPYPAATAAAAYRGAHLRGRGRTVYNTFRAAAPPPPIPAYGGVVYQDGFYGADI YGGYAAYRYAQPTPATAAAYSDRNQFVFVAADEISCNTSAVTDEFMLPTPTTTHLLQPPPTALVPCPKVPAPAQTSEELSCTLPGLCCQA -------------------------------------------------------------- >66648_66648_13_PMM2-RBFOX1_PMM2_chr16_8906963_ENST00000539622_RBFOX1_chr16_7568149_ENST00000547372_length(transcript)=3665nt_BP=603nt GTGCCAACGTGTCTTGTAAGGTGCGGCTAGAAACTGGGGACATGGCAGCGCCTGGCCCAGCGCTCTGCCTCTTCGACGTGGATGGGACCC TCACCGCCCCGCGGCAGAAAATTACCAAAGAAATGGATGACTTCCTACAAAAATTGAGGCAGAAGATCAAAATCGGAGTGGTAGGCGGAT CGGACTTTGAGAAAGTGCAGGAGCAACTGGGAAATGATGAATATTCAAAGTCATCTGGGTGAGGCCCTAATCCAAGATTTAATCAACTAC TGTCTGAGCTACATTGCGAAAATTAAACTCCCGAAGAAGAGGGGTACTTTCATTGAATTCCGAAATGGGATGTTAAACGTGTCCCCTATT GGAAGAAGCTGCAGCCAAGAAGAACGCATTGAGTTCTACGAACTCGATAAAAAAGAAAATATAAGACAAAAGTTTGTAGCAGATCTACGG AAAGAGTTTGCTGGAAAAGGCCTCACGTTTTCCATAGGAGGCCAGATCAGCTTTGATGTCTTTCCTGATGGATGGGACAAGAGATACTGT CTGCGACATGTGGAAAATGACGGTTATAAGACCATTTATTTCTTTGGAGACAAAACTATGCCAGGTAATCAGGAAGCAGCCGCTGCCCCT GACACAATGGCTCAGCCTTACGCTTCGGCCCAGTTTGCTCCCCCGCAGAACGGTATCCCCGCGGAATACACGGCCCCTCATCCCCACCCC GCGCCAGAGTACACAGGCCAGACCACGGTTCCCGAGCACACATTAAACCTGTACCCTCCCGCCCAGACGCACTCCGAGCAGAGCCCGGCG GACACGAGCGCTCAGACCGTCTCTGGCACCGCCACACAGACAGATGACGCAGCACCGACGGATGGCCAGCCCCAGACACAACCTTCTGAA AACACGGAAAACAAGTCTCAGCCCAAGCGGCTGCATGTCTCCAATATCCCCTTCAGGTTCCGGGATCCGGACCTCAGACAAATGTTTGGT CAATTTGGTAAAATCTTAGATGTTGAAATTATTTTTAATGAGCGAGGCTCAAAGGGATTTGGTTTCGTAACTTTCGAAAATAGTGCCGAT GCGGACAGGGCGAGGGAGAAATTACACGGCACCGTGGTAGAGGGCCGTAAAATCGAGGTAAATAATGCCACAGCACGTGTAATGACAAAT AAAAAGACCGTCAACCCTTATACAAATGGCTGGAAATTGAATCCAGTTGTGGGTGCAGTCTACAGTCCCGAATTCTATGCAGGCACGGTC CTGTTGTGCCAGGCCAACCAGGAGGGATCTTCCATGTACAGTGCCCCCAGTTCACTTGTATATACTTCTGCAATGCCAGGCTTCCCGTAT CCAGCAGCCACCGCCGCGGCCGCCTACCGAGGGGCGCACCTGCGAGGCCGCGGTCGCACCGTGTACAACACCTTCAGGGCCGCGGCGCCC CCGCCCCCGATCCCGGCCTACGGCGGTGTTGTTTACCAGGATGGATTTTATGGTGCAGACATTTATGGTGGTTATGCTGCATACCGCTAC GCCCAGCCTACCCCTGCCACTGCCGCTGCCTACAGTGACAGAAATCAGTTCGTCTTCGTTGCAGCAGATGAAATTTCTTGTAACACCTCT GCAGTTACGGACGAGTTTATGCTGCCGACCCCTACCACCACGCACTTGCTCCAGCCCCCACCTACGGCGTTGGTGCCATGCCCCAAGGTT CCAGCCCCAGCACAGACTTCAGAGGAGCTAAGCTGCACACTTCCAGGCCTCTGCTGTCAGGCAGCTGAGAATCTGACTGCCTCTCCTCCC CTATTACAATTCATGTTTAAAGTCATAGTCGCCCAGGAAAGAAAATAGAGAGGGGCACACTTTGTGTGTGTACCTAGTACATAAGAAAGT AGAAGGAATCAGCTGGGTTTGGGGGTTGCCTTTTGTTTTGGGGCAGGTCTGGGTTTTTGTTTTGGGAGGGGGTGGGGGGAGGGTAAAAAA TGGGAGGTAAGGGTGGGGTGAACTTGCCTGTACTTGTTCAAACTTCTATGCACTGAAACTCTTGAGTACAGTAAGACGTGCCCATCACGT GAGAGCATATGCAATCATTACAAAGCTTTGGCATGCAGTTTTCTGCTTGGATCAAGAATATCAGTCCTTACCCTAAAAATGAATCCCCAT AGGCATTCATTTGAATTGCCAATACTTTTAGAAAAAGGAAATCGTTAAGTGCCACCTTGTAGCCATTAAAACCATGGCCGGACAGTTCAC TGAAGCTCAGTCATAGAAATTCAGCCATGATTTGGAAGCATTGTTTTGCACAAGCTTAATTACATCAAGCAATTCATCTGTACAACTCCA CAACTCCCTTCTCAAGATCAGATTCCATACAGCTTACAGAGCCAAGTTAAGTAAGAAGTAGGTTGAGATTTTCATCCCAATTCTGCATTC AACAACTCTGCTTCAACACCTAGTCCACATGAGGAATGTGTTGGAGAGTTGAATTACATTCAACAACTGGTCCAAATTCAACCTCAAGTG CAGATTATTCTGTTATAAAAAAATGAGACAGTGAAAATCCTTCCATTGTCCAGCTTATAATAGAGTCCTTTTAGCTAAGAGGACTGGCTG ACAGAATTTGGTTTTGCAGGGAATTTCTTTAGGAGGAGCTATTGGGGAAGGTCAGGAATGGCCCTATCTTTAGTTCTCCAAGAATGACCT GGGATGGGTAGGGGGTGCCTCCATTTCGGTTGGTTTTGAGTGTCTATTTTTCACATTAGTCTTTTTGATGATCCACATGTTGCAAAAGGA AAATGTAAAAAACACACCCCTCAAATTGCTTTGTTTCAGAATGCTTTTGCACCTTTGACTGATGCCAAGACTAGGAGCCATGCTGATGAT GTGGGTCTCGTTCTTTCTTCATTGCAGGCTAGTATATACCGAGGGGGATACAACCGTTTTGCTCCATACTAAATGACAAAACCATAAAAA CCTTCCAATGTGGGGAGAAAGGAAGCTTTCCGAGGCCTGAGTATTGCAATACATGCAGTAGTACATCATTTTAGCAACTCTAAAAAAAAA AAAAATACAAATAAAAAGGAAAAAAAATTACATTTTTTATCTTATACCTCAGATATTTTGTTCTGTGTATTTTAATATTGTGGGTCTTTA ATTTCTGAAGGTTCCGTAGTTTGGTTGCTGGCTGTAGGAGTTTTTGTGGTTGATCTAGACAGATGCTAGATAATGAATAAAAACTGGTTT AGGGCCATATCCAGAGTGCTATATTATGTAAATGAATTATATATGCTGAATATTAAGCTACTGGGGTTATCAGCTATTTGGGAAGAGTGT AAGTGACTACAGTAGTCATTTTTTTCTGCACCTGCATTATTTTATTTTGCGAAAGGGGAGGTTGGGAGGGGCTTAGGGGATTGGAACTGG GGTTTGGCTGAAAGAAAAAAAAAAAAATGTAACTGATGAATCTAAACGACCCACTGCACCAACAATCATTTATCAATGGTTCTAAGTTAC TCATTGCCAGTTCAAGCCAAAGGTCATGTTGTTAAGGGGGTGCTTCTAGTAGCACTTGTGCATCTGAGTTGAATGAAGCTGTGCAAACCC >66648_66648_13_PMM2-RBFOX1_PMM2_chr16_8906963_ENST00000539622_RBFOX1_chr16_7568149_ENST00000547372_length(amino acids)=553AA_BP=139 MRKCRSNWEMMNIQSHLGEALIQDLINYCLSYIAKIKLPKKRGTFIEFRNGMLNVSPIGRSCSQEERIEFYELDKKENIRQKFVADLRKE FAGKGLTFSIGGQISFDVFPDGWDKRYCLRHVENDGYKTIYFFGDKTMPGNQEAAAAPDTMAQPYASAQFAPPQNGIPAEYTAPHPHPAP EYTGQTTVPEHTLNLYPPAQTHSEQSPADTSAQTVSGTATQTDDAAPTDGQPQTQPSENTENKSQPKRLHVSNIPFRFRDPDLRQMFGQF GKILDVEIIFNERGSKGFGFVTFENSADADRAREKLHGTVVEGRKIEVNNATARVMTNKKTVNPYTNGWKLNPVVGAVYSPEFYAGTVLL CQANQEGSSMYSAPSSLVYTSAMPGFPYPAATAAAAYRGAHLRGRGRTVYNTFRAAAPPPPIPAYGGVVYQDGFYGADIYGGYAAYRYAQ PTPATAAAYSDRNQFVFVAADEISCNTSAVTDEFMLPTPTTTHLLQPPPTALVPCPKVPAPAQTSEELSCTLPGLCCQAAENLTASPPLL -------------------------------------------------------------- >66648_66648_14_PMM2-RBFOX1_PMM2_chr16_8906963_ENST00000539622_RBFOX1_chr16_7568149_ENST00000550418_length(transcript)=1865nt_BP=603nt GTGCCAACGTGTCTTGTAAGGTGCGGCTAGAAACTGGGGACATGGCAGCGCCTGGCCCAGCGCTCTGCCTCTTCGACGTGGATGGGACCC TCACCGCCCCGCGGCAGAAAATTACCAAAGAAATGGATGACTTCCTACAAAAATTGAGGCAGAAGATCAAAATCGGAGTGGTAGGCGGAT CGGACTTTGAGAAAGTGCAGGAGCAACTGGGAAATGATGAATATTCAAAGTCATCTGGGTGAGGCCCTAATCCAAGATTTAATCAACTAC TGTCTGAGCTACATTGCGAAAATTAAACTCCCGAAGAAGAGGGGTACTTTCATTGAATTCCGAAATGGGATGTTAAACGTGTCCCCTATT GGAAGAAGCTGCAGCCAAGAAGAACGCATTGAGTTCTACGAACTCGATAAAAAAGAAAATATAAGACAAAAGTTTGTAGCAGATCTACGG AAAGAGTTTGCTGGAAAAGGCCTCACGTTTTCCATAGGAGGCCAGATCAGCTTTGATGTCTTTCCTGATGGATGGGACAAGAGATACTGT CTGCGACATGTGGAAAATGACGGTTATAAGACCATTTATTTCTTTGGAGACAAAACTATGCCAGGTAATCAGGAAGCAGCCGCTGCCCCT GACACAATGGCTCAGCCTTACGCTTCGGCCCAGTTTGCTCCCCCGCAGAACGGTATCCCCGCGGAATACACGGCCCCTCATCCCCACCCC GCGCCAGAGTACACAGGCCAGACCACGGTTCCCGAGCACACATTAAACCTGTACCCTCCCGCCCAGACGCACTCCGAGCAGAGCCCGGCG GACACGAGCGCTCAGACCGTCTCTGGCACCGCCACACAGACAGATGACGCAGCACCGACGGATGGCCAGCCCCAGACACAACCTTCTGAA AACACGGAAAACAAGTCTCAGCCCAAGCGGCTGCATGTCTCCAATATCCCCTTCAGGTTCCGGGATCCGGACCTCAGACAAATGTTTGGT CAATTTGGTAAAATCTTAGATGTTGAAATTATTTTTAATGAGCGAGGCTCAAAGGGATTTGGTTTCGTAACTTTCGAAAATAGTGCCGAT GCGGACAGGGCGAGGGAGAAATTACACGGCACCGTGGTAGAGGGCCGTAAAATCGAGGTAAATAATGCCACAGCACGTGTAATGACAAAT AAAAAGACCGTCAACCCTTATACAAATGGCTGGAAATTGAATCCAGTTGTGGGTGCAGTCTACAGTCCCGAATTCTATGCAGGCACGGTC CTGTTGTGCCAGGCCAACCAGGAGGGATCTTCCATGTACAGTGCCCCCAGTTCACTTGTATATACTTCTGCAATGCCAGGCTTCCCGTAT CCAGCAGCCACCGCCGCGGCCGCCTACCGAGGGGCGCACCTGCGAGGCCGCGGTCGCACCGTGTACAACACCTTCAGGGCCGCGGCGCCC CCGCCCCCGATCCCGGCCTACGGCGGTGTTGTTTACCAGGATGGATTTTATGGTGCAGACATTTATGGTGGTTATGCTGCATACCGCTAC GCCCAGCCTACCCCTGCCACTGCCGCTGCCTACAGTGACAGTTACGGACGAGTTTATGCTGCCGACCCCTACCACCACGCACTTGCTCCA GCCCCCACCTACGGCGTTGGTGCCATGAATGCTTTTGCACCTTTGACTGATGCCAAGACTAGGAGCCATGCTGATGATGTGGGTCTCGTT CTTTCTTCATTGCAGGCTAGTATATACCGAGGGGGATACAACCGTTTTGCTCCATACTAAATGACAAAACCATAAAAACCTTCCAATGTG >66648_66648_14_PMM2-RBFOX1_PMM2_chr16_8906963_ENST00000539622_RBFOX1_chr16_7568149_ENST00000550418_length(amino acids)=527AA_BP=139 MRKCRSNWEMMNIQSHLGEALIQDLINYCLSYIAKIKLPKKRGTFIEFRNGMLNVSPIGRSCSQEERIEFYELDKKENIRQKFVADLRKE FAGKGLTFSIGGQISFDVFPDGWDKRYCLRHVENDGYKTIYFFGDKTMPGNQEAAAAPDTMAQPYASAQFAPPQNGIPAEYTAPHPHPAP EYTGQTTVPEHTLNLYPPAQTHSEQSPADTSAQTVSGTATQTDDAAPTDGQPQTQPSENTENKSQPKRLHVSNIPFRFRDPDLRQMFGQF GKILDVEIIFNERGSKGFGFVTFENSADADRAREKLHGTVVEGRKIEVNNATARVMTNKKTVNPYTNGWKLNPVVGAVYSPEFYAGTVLL CQANQEGSSMYSAPSSLVYTSAMPGFPYPAATAAAAYRGAHLRGRGRTVYNTFRAAAPPPPIPAYGGVVYQDGFYGADIYGGYAAYRYAQ -------------------------------------------------------------- >66648_66648_15_PMM2-RBFOX1_PMM2_chr16_8906963_ENST00000539622_RBFOX1_chr16_7568149_ENST00000553186_length(transcript)=1784nt_BP=603nt GTGCCAACGTGTCTTGTAAGGTGCGGCTAGAAACTGGGGACATGGCAGCGCCTGGCCCAGCGCTCTGCCTCTTCGACGTGGATGGGACCC TCACCGCCCCGCGGCAGAAAATTACCAAAGAAATGGATGACTTCCTACAAAAATTGAGGCAGAAGATCAAAATCGGAGTGGTAGGCGGAT CGGACTTTGAGAAAGTGCAGGAGCAACTGGGAAATGATGAATATTCAAAGTCATCTGGGTGAGGCCCTAATCCAAGATTTAATCAACTAC TGTCTGAGCTACATTGCGAAAATTAAACTCCCGAAGAAGAGGGGTACTTTCATTGAATTCCGAAATGGGATGTTAAACGTGTCCCCTATT GGAAGAAGCTGCAGCCAAGAAGAACGCATTGAGTTCTACGAACTCGATAAAAAAGAAAATATAAGACAAAAGTTTGTAGCAGATCTACGG AAAGAGTTTGCTGGAAAAGGCCTCACGTTTTCCATAGGAGGCCAGATCAGCTTTGATGTCTTTCCTGATGGATGGGACAAGAGATACTGT CTGCGACATGTGGAAAATGACGGTTATAAGACCATTTATTTCTTTGGAGACAAAACTATGCCAGGTAATCAGGAAGCAGCCGCTGCCCCT GACACAATGGCTCAGCCTTACGCTTCGGCCCAGTTTGCTCCCCCGCAGAACGGTATCCCCGCGGAATACACGGCCCCTCATCCCCACCCC GCGCCAGAGTACACAGGCCAGACCACGGTTCCCGAGCACACATTAAACCTGTACCCTCCCGCCCAGACGCACTCCGAGCAGAGCCCGGCG GACACGAGCGCTCAGACCGTCTCTGGCACCGCCACACAGACAGATGACGCAGCACCGACGGATGGCCAGCCCCAGACACAACCTTCTGAA AACACGGAAAACAAGTCTCAGCCCAAGCGGCTGCATGTCTCCAATATCCCCTTCAGGTTCCGGGATCCGGACCTCAGACAAATGTTTGGT CAATTTGGTAAAATCTTAGATGTTGAAATTATTTTTAATGAGCGAGGCTCAAAGGGATTTGGTTTCGTAACTTTCGAAAATAGTGCCGAT GCGGACAGGGCGAGGGAGAAATTACACGGCACCGTGGTAGAGGGCCGTAAAATCGAGGTAAATAATGCCACAGCACGTGTAATGACAAAT AAAAAGACCGTCAACCCTTATACAAATGGCTGGAAATTGAATCCAGTTGTGGGTGCAGTCTACAGTCCCGAATTCTATGCAGTGCCAGGC TTCCCGTATCCAGCAGCCACCGCCGCGGCCGCCTACCGAGGGGCGCACCTGCGAGGCCGCGGTCGCACCGTGTACAACACCTTCAGGGCC GCGGCGCCCCCGCCCCCGATCCCGGCCTACGGCGGTGTTGTTTACCAGGATGGATTTTATGGTGCAGACATTTATGGTGGTTATGCTGCA TACCGCTACGCCCAGCCTACCCCTGCCACTGCCGCTGCCTACAGTGACAGTTACGGACGAGTTTATGCTGCCGACCCCTACCACCACGCA CTTGCTCCAGCCCCCACCTACGGCGTTGGTGCCATGAATGCTTTTGCACCTTTGACTGATGCCAAGACTAGGAGCCATGCTGATGATGTG GGTCTCGTTCTTTCTTCATTGCAGGCTAGTATATACCGAGGGGGATACAACCGTTTTGCTCCATACTAAATGACAAAACCATAAAAACCT >66648_66648_15_PMM2-RBFOX1_PMM2_chr16_8906963_ENST00000539622_RBFOX1_chr16_7568149_ENST00000553186_length(amino acids)=500AA_BP=139 MRKCRSNWEMMNIQSHLGEALIQDLINYCLSYIAKIKLPKKRGTFIEFRNGMLNVSPIGRSCSQEERIEFYELDKKENIRQKFVADLRKE FAGKGLTFSIGGQISFDVFPDGWDKRYCLRHVENDGYKTIYFFGDKTMPGNQEAAAAPDTMAQPYASAQFAPPQNGIPAEYTAPHPHPAP EYTGQTTVPEHTLNLYPPAQTHSEQSPADTSAQTVSGTATQTDDAAPTDGQPQTQPSENTENKSQPKRLHVSNIPFRFRDPDLRQMFGQF GKILDVEIIFNERGSKGFGFVTFENSADADRAREKLHGTVVEGRKIEVNNATARVMTNKKTVNPYTNGWKLNPVVGAVYSPEFYAVPGFP YPAATAAAAYRGAHLRGRGRTVYNTFRAAAPPPPIPAYGGVVYQDGFYGADIYGGYAAYRYAQPTPATAAAYSDSYGRVYAADPYHHALA -------------------------------------------------------------- >66648_66648_16_PMM2-RBFOX1_PMM2_chr16_8906963_ENST00000566983_RBFOX1_chr16_7568149_ENST00000422070_length(transcript)=2094nt_BP=762nt GAACTCACGAGTCTTGCAGTCATAAAGCAGCAACATAAAGCAAGCTCCCAACTCTAGTTCTCCAGGCAATTCATCCAGGCTGTCCCCTGC AAGCTGCTCAGCCCACCAGATCTGCTTTGGGGAGCGCATTAAACATGGTTATGCAATGATTGGGTGGCGGATGCCATAGACATCTGGCCC TATGACAAGAAAATTACCAAAGAAATGGATGACTTCCTACAAAAATTGAGGCAGAAGATCAAAATCGGAGTGGTAGGCGGATCGGACTTT GAGAAAGTGCAGGAGCAACTGGGAAATGATGTGGTTGAAAAATACGATTATGTGTTTCCAGAAAATGGCTTGGTAGCATACAAAGATGGG AAACTCTTGTGTAGACAGAATATTCAAAGTCATCTGGGTGAGGCCCTAATCCAAGATTTAATCAACTACTGTCTGAGCTACATTGCGAAA ATTAAACTCCCGAAGAAGAGGGGTACTTTCATTGAATTCCGAAATGGGATGTTAAACGTGTCCCCTATTGGAAGAAGCTGCAGCCAAGAA GAACGCATTGAGTTCTACGAACTCGATAAAAAAGAAAATATAAGACAAAAGTTTGTAGCAGATCTACGGAAAGAGTTTGCTGGAAAAGGC CTCACGTTTTCCATAGGAGGCCAGATCAGCTTTGATGTCTTTCCTGATGGATGGGACAAGAGATACTGTCTGCGACATGTGGAAAATGAC GGTTATAAGACCATTTATTTCTTTGGAGACAAAACTATGCCAGGTAATCAGGAAGCAGCCGCTGCCCCTGACACAATGGCTCAGCCTTAC GCTTCGGCCCAGTTTGCTCCCCCGCAGAACGGTATCCCCGCGGAATACACGGCCCCTCATCCCCACCCCGCGCCAGAGTACACAGGCCAG ACCACGGTTCCCGAGCACACATTAAACCTGTACCCTCCCGCCCAGACGCACTCCGAGCAGAGCCCGGCGGACACGAGCGCTCAGACCGTC TCTGGCACCGCCACACAGACAGATGACGCAGCACCGACGGATGGCCAGCCCCAGACACAACCTTCTGAAAACACGGAAAACAAGTCTCAG CCCAAGCGGCTGCATGTCTCCAATATCCCCTTCAGGTTCCGGGATCCGGACCTCAGACAAATGTTTGGTCAATTTGGTAAAATCTTAGAT GTTGAAATTATTTTTAATGAGCGAGGCTCAAAGGGATTTGGTTTCGTAACTTTCGAAAATAGTGCCGATGCGGACAGGGCGAGGGAGAAA TTACACGGCACCGTGGTAGAGGGCCGTAAAATCGAGGTAAATAATGCCACAGCACGTGTAATGACAAATAAAAAGACCGTCAACCCTTAT ACAAATGGCTGGAAATTGAATCCAGTTGTGGGTGCAGTCTACAGTCCCGAATTCTATGCAGGCACGGTCCTGTTGTGCCAGGCCAACCAG GAGGGATCTTCCATGTACAGTGCCCCCAGTTCACTTGTATATACTTCTGCAATGCCAGGCTTCCCGTATCCAGCAGCCACCGCCGCGGCC GCCTACCGAGGGGCGCACCTGCGAGGCCGCGGTCGCACCGTGTACAACACCTTCAGGGCCGCGGCGCCCCCGCCCCCGATCCCGGCCTAC GGCGGTGTTGTTTACCAGGATGGATTTTATGGTGCAGACATTTATGGTGGTTATGCTGCATACCGCTACGCCCAGCCTACCCCTGCCACT GCCGCTGCCTACAGTGACAGTTACGGACGAGTTTATGCTGCCGACCCCTACCACCACGCACTTGCTCCAGCCCCCACCTACGGCGTTGGT GCCATGCCCCAAGGTTCCAGCCCCAGCACAGACTTCAGAGGAGCTAAGCTGCACACTTCCAGGCCTCTGCTGTCAGGCAGCTGAGAATCT GACTGCCTCTCCTCCCCTATTACAATTCATGTTTAAAGTCATAGTCGCCCAGGAAAGAAAATAGAGAGGGGCACACTTTGTGTGTGTACC TAGTACATAAGAAAGTAGAAGGAATCAGCTGGGTTTGGGGGTTGCCTTTTGTTTTGGGGCAGGTCTGGGTTTTTGTTTTGGGAGGGGGTG >66648_66648_16_PMM2-RBFOX1_PMM2_chr16_8906963_ENST00000566983_RBFOX1_chr16_7568149_ENST00000422070_length(amino acids)=559AA_BP=186 MDDFLQKLRQKIKIGVVGGSDFEKVQEQLGNDVVEKYDYVFPENGLVAYKDGKLLCRQNIQSHLGEALIQDLINYCLSYIAKIKLPKKRG TFIEFRNGMLNVSPIGRSCSQEERIEFYELDKKENIRQKFVADLRKEFAGKGLTFSIGGQISFDVFPDGWDKRYCLRHVENDGYKTIYFF GDKTMPGNQEAAAAPDTMAQPYASAQFAPPQNGIPAEYTAPHPHPAPEYTGQTTVPEHTLNLYPPAQTHSEQSPADTSAQTVSGTATQTD DAAPTDGQPQTQPSENTENKSQPKRLHVSNIPFRFRDPDLRQMFGQFGKILDVEIIFNERGSKGFGFVTFENSADADRAREKLHGTVVEG RKIEVNNATARVMTNKKTVNPYTNGWKLNPVVGAVYSPEFYAGTVLLCQANQEGSSMYSAPSSLVYTSAMPGFPYPAATAAAAYRGAHLR GRGRTVYNTFRAAAPPPPIPAYGGVVYQDGFYGADIYGGYAAYRYAQPTPATAAAYSDSYGRVYAADPYHHALAPAPTYGVGAMPQGSSP -------------------------------------------------------------- >66648_66648_17_PMM2-RBFOX1_PMM2_chr16_8906963_ENST00000566983_RBFOX1_chr16_7568149_ENST00000535565_length(transcript)=1905nt_BP=762nt GAACTCACGAGTCTTGCAGTCATAAAGCAGCAACATAAAGCAAGCTCCCAACTCTAGTTCTCCAGGCAATTCATCCAGGCTGTCCCCTGC AAGCTGCTCAGCCCACCAGATCTGCTTTGGGGAGCGCATTAAACATGGTTATGCAATGATTGGGTGGCGGATGCCATAGACATCTGGCCC TATGACAAGAAAATTACCAAAGAAATGGATGACTTCCTACAAAAATTGAGGCAGAAGATCAAAATCGGAGTGGTAGGCGGATCGGACTTT GAGAAAGTGCAGGAGCAACTGGGAAATGATGTGGTTGAAAAATACGATTATGTGTTTCCAGAAAATGGCTTGGTAGCATACAAAGATGGG AAACTCTTGTGTAGACAGAATATTCAAAGTCATCTGGGTGAGGCCCTAATCCAAGATTTAATCAACTACTGTCTGAGCTACATTGCGAAA ATTAAACTCCCGAAGAAGAGGGGTACTTTCATTGAATTCCGAAATGGGATGTTAAACGTGTCCCCTATTGGAAGAAGCTGCAGCCAAGAA GAACGCATTGAGTTCTACGAACTCGATAAAAAAGAAAATATAAGACAAAAGTTTGTAGCAGATCTACGGAAAGAGTTTGCTGGAAAAGGC CTCACGTTTTCCATAGGAGGCCAGATCAGCTTTGATGTCTTTCCTGATGGATGGGACAAGAGATACTGTCTGCGACATGTGGAAAATGAC GGTTATAAGACCATTTATTTCTTTGGAGACAAAACTATGCCAGGTAATCAGGAAGCAGCCGCTGCCCCTGACACAATGGCTCAGCCTTAC GCTTCGGCCCAGTTTGCTCCCCCGCAGAACGGTATCCCCGCGGAATACACGGCCCCTCATCCCCACCCCGCGCCAGAGTACACAGGCCAG ACCACGGTTCCCGAGCACACATTAAACCTGTACCCTCCCGCCCAGACGCACTCCGAGCAGAGCCCGGCGGACACGAGCGCTCAGACCGTC TCTGGCACCGCCACACAATTTGGTAAAATCTTAGATGTTGAAATTATTTTTAATGAGCGAGGCTCAAAGGTAAATAATGCCACAGCACGT GTAATGACAAATAAAAAGACCGTCAACCCTTATACAAATGGCTGGAAATTGAATCCAGTTGTGGGTGCAGTCTACAGTCCCGAATTCTAT GCAGGCACGGTCCTGTTGTGCCAGGCCAACCAGGAGGGATCTTCCATGTACAGTGCCCCCAGTTCACTTGTATATACTTCTGCAATGCCA GGCTTCCCGTATCCAGCAGCCACCGCCGCGGCCGCCTACCGAGGGGCGCACCTGCGAGGCCGCGGTCGCACCGTGTACAACACCTTCAGG GCCGCGGCGCCCCCGCCCCCGATCCCGGCCTACGGCGGTGTTGTTTACCAGGATGGATTTTATGGTGCAGACATTTATGGTGGTTATGCT GCATACCGCTACGCCCAGCCTACCCCTGCCACTGCCGCTGCCTACAGTGACAGAAATCAGTTCGTCTTCGTTGCAGCAGATGAAATTTCT TGTAACACCTCTGCAGTTACGGACGAGTTTATGCTGCCGACCCCTACCACCACGCACTTGCTCCAGCCCCCACCTACGGCGTTGGTGCCA TGCCCCAAGGTTCCAGCCCCAGCACAGACTTCAGAGGAGCTAAGCTGCACACTTCCAGGCCTCTGCTGTCAGGCAGCTGAGAATCTGACT GCCTCTCCTCCCCTATTACAATTCATGTTTAAAGTCATAGTCGCCCAGGAAAGAAAATAGAGAGGGGCACACTTTGTGTGTGTACCTAGT ACATAAGAAAGTAGAAGGAATCAGCTGGGTTTGGGGGTTGCCTTTTGTTTTGGGGCAGGTCTGGGTTTTTGTTTTGGGAGGGGGTGGGGG >66648_66648_17_PMM2-RBFOX1_PMM2_chr16_8906963_ENST00000566983_RBFOX1_chr16_7568149_ENST00000535565_length(amino acids)=521AA_BP=186 MDDFLQKLRQKIKIGVVGGSDFEKVQEQLGNDVVEKYDYVFPENGLVAYKDGKLLCRQNIQSHLGEALIQDLINYCLSYIAKIKLPKKRG TFIEFRNGMLNVSPIGRSCSQEERIEFYELDKKENIRQKFVADLRKEFAGKGLTFSIGGQISFDVFPDGWDKRYCLRHVENDGYKTIYFF GDKTMPGNQEAAAAPDTMAQPYASAQFAPPQNGIPAEYTAPHPHPAPEYTGQTTVPEHTLNLYPPAQTHSEQSPADTSAQTVSGTATQFG KILDVEIIFNERGSKVNNATARVMTNKKTVNPYTNGWKLNPVVGAVYSPEFYAGTVLLCQANQEGSSMYSAPSSLVYTSAMPGFPYPAAT AAAAYRGAHLRGRGRTVYNTFRAAAPPPPIPAYGGVVYQDGFYGADIYGGYAAYRYAQPTPATAAAYSDRNQFVFVAADEISCNTSAVTD -------------------------------------------------------------- >66648_66648_18_PMM2-RBFOX1_PMM2_chr16_8906963_ENST00000566983_RBFOX1_chr16_7568149_ENST00000547372_length(transcript)=3824nt_BP=762nt GAACTCACGAGTCTTGCAGTCATAAAGCAGCAACATAAAGCAAGCTCCCAACTCTAGTTCTCCAGGCAATTCATCCAGGCTGTCCCCTGC AAGCTGCTCAGCCCACCAGATCTGCTTTGGGGAGCGCATTAAACATGGTTATGCAATGATTGGGTGGCGGATGCCATAGACATCTGGCCC TATGACAAGAAAATTACCAAAGAAATGGATGACTTCCTACAAAAATTGAGGCAGAAGATCAAAATCGGAGTGGTAGGCGGATCGGACTTT GAGAAAGTGCAGGAGCAACTGGGAAATGATGTGGTTGAAAAATACGATTATGTGTTTCCAGAAAATGGCTTGGTAGCATACAAAGATGGG AAACTCTTGTGTAGACAGAATATTCAAAGTCATCTGGGTGAGGCCCTAATCCAAGATTTAATCAACTACTGTCTGAGCTACATTGCGAAA ATTAAACTCCCGAAGAAGAGGGGTACTTTCATTGAATTCCGAAATGGGATGTTAAACGTGTCCCCTATTGGAAGAAGCTGCAGCCAAGAA GAACGCATTGAGTTCTACGAACTCGATAAAAAAGAAAATATAAGACAAAAGTTTGTAGCAGATCTACGGAAAGAGTTTGCTGGAAAAGGC CTCACGTTTTCCATAGGAGGCCAGATCAGCTTTGATGTCTTTCCTGATGGATGGGACAAGAGATACTGTCTGCGACATGTGGAAAATGAC GGTTATAAGACCATTTATTTCTTTGGAGACAAAACTATGCCAGGTAATCAGGAAGCAGCCGCTGCCCCTGACACAATGGCTCAGCCTTAC GCTTCGGCCCAGTTTGCTCCCCCGCAGAACGGTATCCCCGCGGAATACACGGCCCCTCATCCCCACCCCGCGCCAGAGTACACAGGCCAG ACCACGGTTCCCGAGCACACATTAAACCTGTACCCTCCCGCCCAGACGCACTCCGAGCAGAGCCCGGCGGACACGAGCGCTCAGACCGTC TCTGGCACCGCCACACAGACAGATGACGCAGCACCGACGGATGGCCAGCCCCAGACACAACCTTCTGAAAACACGGAAAACAAGTCTCAG CCCAAGCGGCTGCATGTCTCCAATATCCCCTTCAGGTTCCGGGATCCGGACCTCAGACAAATGTTTGGTCAATTTGGTAAAATCTTAGAT GTTGAAATTATTTTTAATGAGCGAGGCTCAAAGGGATTTGGTTTCGTAACTTTCGAAAATAGTGCCGATGCGGACAGGGCGAGGGAGAAA TTACACGGCACCGTGGTAGAGGGCCGTAAAATCGAGGTAAATAATGCCACAGCACGTGTAATGACAAATAAAAAGACCGTCAACCCTTAT ACAAATGGCTGGAAATTGAATCCAGTTGTGGGTGCAGTCTACAGTCCCGAATTCTATGCAGGCACGGTCCTGTTGTGCCAGGCCAACCAG GAGGGATCTTCCATGTACAGTGCCCCCAGTTCACTTGTATATACTTCTGCAATGCCAGGCTTCCCGTATCCAGCAGCCACCGCCGCGGCC GCCTACCGAGGGGCGCACCTGCGAGGCCGCGGTCGCACCGTGTACAACACCTTCAGGGCCGCGGCGCCCCCGCCCCCGATCCCGGCCTAC GGCGGTGTTGTTTACCAGGATGGATTTTATGGTGCAGACATTTATGGTGGTTATGCTGCATACCGCTACGCCCAGCCTACCCCTGCCACT GCCGCTGCCTACAGTGACAGAAATCAGTTCGTCTTCGTTGCAGCAGATGAAATTTCTTGTAACACCTCTGCAGTTACGGACGAGTTTATG CTGCCGACCCCTACCACCACGCACTTGCTCCAGCCCCCACCTACGGCGTTGGTGCCATGCCCCAAGGTTCCAGCCCCAGCACAGACTTCA GAGGAGCTAAGCTGCACACTTCCAGGCCTCTGCTGTCAGGCAGCTGAGAATCTGACTGCCTCTCCTCCCCTATTACAATTCATGTTTAAA GTCATAGTCGCCCAGGAAAGAAAATAGAGAGGGGCACACTTTGTGTGTGTACCTAGTACATAAGAAAGTAGAAGGAATCAGCTGGGTTTG GGGGTTGCCTTTTGTTTTGGGGCAGGTCTGGGTTTTTGTTTTGGGAGGGGGTGGGGGGAGGGTAAAAAATGGGAGGTAAGGGTGGGGTGA ACTTGCCTGTACTTGTTCAAACTTCTATGCACTGAAACTCTTGAGTACAGTAAGACGTGCCCATCACGTGAGAGCATATGCAATCATTAC AAAGCTTTGGCATGCAGTTTTCTGCTTGGATCAAGAATATCAGTCCTTACCCTAAAAATGAATCCCCATAGGCATTCATTTGAATTGCCA ATACTTTTAGAAAAAGGAAATCGTTAAGTGCCACCTTGTAGCCATTAAAACCATGGCCGGACAGTTCACTGAAGCTCAGTCATAGAAATT CAGCCATGATTTGGAAGCATTGTTTTGCACAAGCTTAATTACATCAAGCAATTCATCTGTACAACTCCACAACTCCCTTCTCAAGATCAG ATTCCATACAGCTTACAGAGCCAAGTTAAGTAAGAAGTAGGTTGAGATTTTCATCCCAATTCTGCATTCAACAACTCTGCTTCAACACCT AGTCCACATGAGGAATGTGTTGGAGAGTTGAATTACATTCAACAACTGGTCCAAATTCAACCTCAAGTGCAGATTATTCTGTTATAAAAA AATGAGACAGTGAAAATCCTTCCATTGTCCAGCTTATAATAGAGTCCTTTTAGCTAAGAGGACTGGCTGACAGAATTTGGTTTTGCAGGG AATTTCTTTAGGAGGAGCTATTGGGGAAGGTCAGGAATGGCCCTATCTTTAGTTCTCCAAGAATGACCTGGGATGGGTAGGGGGTGCCTC CATTTCGGTTGGTTTTGAGTGTCTATTTTTCACATTAGTCTTTTTGATGATCCACATGTTGCAAAAGGAAAATGTAAAAAACACACCCCT CAAATTGCTTTGTTTCAGAATGCTTTTGCACCTTTGACTGATGCCAAGACTAGGAGCCATGCTGATGATGTGGGTCTCGTTCTTTCTTCA TTGCAGGCTAGTATATACCGAGGGGGATACAACCGTTTTGCTCCATACTAAATGACAAAACCATAAAAACCTTCCAATGTGGGGAGAAAG GAAGCTTTCCGAGGCCTGAGTATTGCAATACATGCAGTAGTACATCATTTTAGCAACTCTAAAAAAAAAAAAAATACAAATAAAAAGGAA AAAAAATTACATTTTTTATCTTATACCTCAGATATTTTGTTCTGTGTATTTTAATATTGTGGGTCTTTAATTTCTGAAGGTTCCGTAGTT TGGTTGCTGGCTGTAGGAGTTTTTGTGGTTGATCTAGACAGATGCTAGATAATGAATAAAAACTGGTTTAGGGCCATATCCAGAGTGCTA TATTATGTAAATGAATTATATATGCTGAATATTAAGCTACTGGGGTTATCAGCTATTTGGGAAGAGTGTAAGTGACTACAGTAGTCATTT TTTTCTGCACCTGCATTATTTTATTTTGCGAAAGGGGAGGTTGGGAGGGGCTTAGGGGATTGGAACTGGGGTTTGGCTGAAAGAAAAAAA AAAAAATGTAACTGATGAATCTAAACGACCCACTGCACCAACAATCATTTATCAATGGTTCTAAGTTACTCATTGCCAGTTCAAGCCAAA GGTCATGTTGTTAAGGGGGTGCTTCTAGTAGCACTTGTGCATCTGAGTTGAATGAAGCTGTGCAAACCCACCCTTTAAACCATTCCACCC >66648_66648_18_PMM2-RBFOX1_PMM2_chr16_8906963_ENST00000566983_RBFOX1_chr16_7568149_ENST00000547372_length(amino acids)=600AA_BP=186 MDDFLQKLRQKIKIGVVGGSDFEKVQEQLGNDVVEKYDYVFPENGLVAYKDGKLLCRQNIQSHLGEALIQDLINYCLSYIAKIKLPKKRG TFIEFRNGMLNVSPIGRSCSQEERIEFYELDKKENIRQKFVADLRKEFAGKGLTFSIGGQISFDVFPDGWDKRYCLRHVENDGYKTIYFF GDKTMPGNQEAAAAPDTMAQPYASAQFAPPQNGIPAEYTAPHPHPAPEYTGQTTVPEHTLNLYPPAQTHSEQSPADTSAQTVSGTATQTD DAAPTDGQPQTQPSENTENKSQPKRLHVSNIPFRFRDPDLRQMFGQFGKILDVEIIFNERGSKGFGFVTFENSADADRAREKLHGTVVEG RKIEVNNATARVMTNKKTVNPYTNGWKLNPVVGAVYSPEFYAGTVLLCQANQEGSSMYSAPSSLVYTSAMPGFPYPAATAAAAYRGAHLR GRGRTVYNTFRAAAPPPPIPAYGGVVYQDGFYGADIYGGYAAYRYAQPTPATAAAYSDRNQFVFVAADEISCNTSAVTDEFMLPTPTTTH -------------------------------------------------------------- >66648_66648_19_PMM2-RBFOX1_PMM2_chr16_8906963_ENST00000566983_RBFOX1_chr16_7568149_ENST00000550418_length(transcript)=2024nt_BP=762nt GAACTCACGAGTCTTGCAGTCATAAAGCAGCAACATAAAGCAAGCTCCCAACTCTAGTTCTCCAGGCAATTCATCCAGGCTGTCCCCTGC AAGCTGCTCAGCCCACCAGATCTGCTTTGGGGAGCGCATTAAACATGGTTATGCAATGATTGGGTGGCGGATGCCATAGACATCTGGCCC TATGACAAGAAAATTACCAAAGAAATGGATGACTTCCTACAAAAATTGAGGCAGAAGATCAAAATCGGAGTGGTAGGCGGATCGGACTTT GAGAAAGTGCAGGAGCAACTGGGAAATGATGTGGTTGAAAAATACGATTATGTGTTTCCAGAAAATGGCTTGGTAGCATACAAAGATGGG AAACTCTTGTGTAGACAGAATATTCAAAGTCATCTGGGTGAGGCCCTAATCCAAGATTTAATCAACTACTGTCTGAGCTACATTGCGAAA ATTAAACTCCCGAAGAAGAGGGGTACTTTCATTGAATTCCGAAATGGGATGTTAAACGTGTCCCCTATTGGAAGAAGCTGCAGCCAAGAA GAACGCATTGAGTTCTACGAACTCGATAAAAAAGAAAATATAAGACAAAAGTTTGTAGCAGATCTACGGAAAGAGTTTGCTGGAAAAGGC CTCACGTTTTCCATAGGAGGCCAGATCAGCTTTGATGTCTTTCCTGATGGATGGGACAAGAGATACTGTCTGCGACATGTGGAAAATGAC GGTTATAAGACCATTTATTTCTTTGGAGACAAAACTATGCCAGGTAATCAGGAAGCAGCCGCTGCCCCTGACACAATGGCTCAGCCTTAC GCTTCGGCCCAGTTTGCTCCCCCGCAGAACGGTATCCCCGCGGAATACACGGCCCCTCATCCCCACCCCGCGCCAGAGTACACAGGCCAG ACCACGGTTCCCGAGCACACATTAAACCTGTACCCTCCCGCCCAGACGCACTCCGAGCAGAGCCCGGCGGACACGAGCGCTCAGACCGTC TCTGGCACCGCCACACAGACAGATGACGCAGCACCGACGGATGGCCAGCCCCAGACACAACCTTCTGAAAACACGGAAAACAAGTCTCAG CCCAAGCGGCTGCATGTCTCCAATATCCCCTTCAGGTTCCGGGATCCGGACCTCAGACAAATGTTTGGTCAATTTGGTAAAATCTTAGAT GTTGAAATTATTTTTAATGAGCGAGGCTCAAAGGGATTTGGTTTCGTAACTTTCGAAAATAGTGCCGATGCGGACAGGGCGAGGGAGAAA TTACACGGCACCGTGGTAGAGGGCCGTAAAATCGAGGTAAATAATGCCACAGCACGTGTAATGACAAATAAAAAGACCGTCAACCCTTAT ACAAATGGCTGGAAATTGAATCCAGTTGTGGGTGCAGTCTACAGTCCCGAATTCTATGCAGGCACGGTCCTGTTGTGCCAGGCCAACCAG GAGGGATCTTCCATGTACAGTGCCCCCAGTTCACTTGTATATACTTCTGCAATGCCAGGCTTCCCGTATCCAGCAGCCACCGCCGCGGCC GCCTACCGAGGGGCGCACCTGCGAGGCCGCGGTCGCACCGTGTACAACACCTTCAGGGCCGCGGCGCCCCCGCCCCCGATCCCGGCCTAC GGCGGTGTTGTTTACCAGGATGGATTTTATGGTGCAGACATTTATGGTGGTTATGCTGCATACCGCTACGCCCAGCCTACCCCTGCCACT GCCGCTGCCTACAGTGACAGTTACGGACGAGTTTATGCTGCCGACCCCTACCACCACGCACTTGCTCCAGCCCCCACCTACGGCGTTGGT GCCATGAATGCTTTTGCACCTTTGACTGATGCCAAGACTAGGAGCCATGCTGATGATGTGGGTCTCGTTCTTTCTTCATTGCAGGCTAGT ATATACCGAGGGGGATACAACCGTTTTGCTCCATACTAAATGACAAAACCATAAAAACCTTCCAATGTGGGGAGAAAGGAAGCTTTCCGA >66648_66648_19_PMM2-RBFOX1_PMM2_chr16_8906963_ENST00000566983_RBFOX1_chr16_7568149_ENST00000550418_length(amino acids)=574AA_BP=186 MDDFLQKLRQKIKIGVVGGSDFEKVQEQLGNDVVEKYDYVFPENGLVAYKDGKLLCRQNIQSHLGEALIQDLINYCLSYIAKIKLPKKRG TFIEFRNGMLNVSPIGRSCSQEERIEFYELDKKENIRQKFVADLRKEFAGKGLTFSIGGQISFDVFPDGWDKRYCLRHVENDGYKTIYFF GDKTMPGNQEAAAAPDTMAQPYASAQFAPPQNGIPAEYTAPHPHPAPEYTGQTTVPEHTLNLYPPAQTHSEQSPADTSAQTVSGTATQTD DAAPTDGQPQTQPSENTENKSQPKRLHVSNIPFRFRDPDLRQMFGQFGKILDVEIIFNERGSKGFGFVTFENSADADRAREKLHGTVVEG RKIEVNNATARVMTNKKTVNPYTNGWKLNPVVGAVYSPEFYAGTVLLCQANQEGSSMYSAPSSLVYTSAMPGFPYPAATAAAAYRGAHLR GRGRTVYNTFRAAAPPPPIPAYGGVVYQDGFYGADIYGGYAAYRYAQPTPATAAAYSDSYGRVYAADPYHHALAPAPTYGVGAMNAFAPL -------------------------------------------------------------- >66648_66648_20_PMM2-RBFOX1_PMM2_chr16_8906963_ENST00000566983_RBFOX1_chr16_7568149_ENST00000553186_length(transcript)=1943nt_BP=762nt GAACTCACGAGTCTTGCAGTCATAAAGCAGCAACATAAAGCAAGCTCCCAACTCTAGTTCTCCAGGCAATTCATCCAGGCTGTCCCCTGC AAGCTGCTCAGCCCACCAGATCTGCTTTGGGGAGCGCATTAAACATGGTTATGCAATGATTGGGTGGCGGATGCCATAGACATCTGGCCC TATGACAAGAAAATTACCAAAGAAATGGATGACTTCCTACAAAAATTGAGGCAGAAGATCAAAATCGGAGTGGTAGGCGGATCGGACTTT GAGAAAGTGCAGGAGCAACTGGGAAATGATGTGGTTGAAAAATACGATTATGTGTTTCCAGAAAATGGCTTGGTAGCATACAAAGATGGG AAACTCTTGTGTAGACAGAATATTCAAAGTCATCTGGGTGAGGCCCTAATCCAAGATTTAATCAACTACTGTCTGAGCTACATTGCGAAA ATTAAACTCCCGAAGAAGAGGGGTACTTTCATTGAATTCCGAAATGGGATGTTAAACGTGTCCCCTATTGGAAGAAGCTGCAGCCAAGAA GAACGCATTGAGTTCTACGAACTCGATAAAAAAGAAAATATAAGACAAAAGTTTGTAGCAGATCTACGGAAAGAGTTTGCTGGAAAAGGC CTCACGTTTTCCATAGGAGGCCAGATCAGCTTTGATGTCTTTCCTGATGGATGGGACAAGAGATACTGTCTGCGACATGTGGAAAATGAC GGTTATAAGACCATTTATTTCTTTGGAGACAAAACTATGCCAGGTAATCAGGAAGCAGCCGCTGCCCCTGACACAATGGCTCAGCCTTAC GCTTCGGCCCAGTTTGCTCCCCCGCAGAACGGTATCCCCGCGGAATACACGGCCCCTCATCCCCACCCCGCGCCAGAGTACACAGGCCAG ACCACGGTTCCCGAGCACACATTAAACCTGTACCCTCCCGCCCAGACGCACTCCGAGCAGAGCCCGGCGGACACGAGCGCTCAGACCGTC TCTGGCACCGCCACACAGACAGATGACGCAGCACCGACGGATGGCCAGCCCCAGACACAACCTTCTGAAAACACGGAAAACAAGTCTCAG CCCAAGCGGCTGCATGTCTCCAATATCCCCTTCAGGTTCCGGGATCCGGACCTCAGACAAATGTTTGGTCAATTTGGTAAAATCTTAGAT GTTGAAATTATTTTTAATGAGCGAGGCTCAAAGGGATTTGGTTTCGTAACTTTCGAAAATAGTGCCGATGCGGACAGGGCGAGGGAGAAA TTACACGGCACCGTGGTAGAGGGCCGTAAAATCGAGGTAAATAATGCCACAGCACGTGTAATGACAAATAAAAAGACCGTCAACCCTTAT ACAAATGGCTGGAAATTGAATCCAGTTGTGGGTGCAGTCTACAGTCCCGAATTCTATGCAGTGCCAGGCTTCCCGTATCCAGCAGCCACC GCCGCGGCCGCCTACCGAGGGGCGCACCTGCGAGGCCGCGGTCGCACCGTGTACAACACCTTCAGGGCCGCGGCGCCCCCGCCCCCGATC CCGGCCTACGGCGGTGTTGTTTACCAGGATGGATTTTATGGTGCAGACATTTATGGTGGTTATGCTGCATACCGCTACGCCCAGCCTACC CCTGCCACTGCCGCTGCCTACAGTGACAGTTACGGACGAGTTTATGCTGCCGACCCCTACCACCACGCACTTGCTCCAGCCCCCACCTAC GGCGTTGGTGCCATGAATGCTTTTGCACCTTTGACTGATGCCAAGACTAGGAGCCATGCTGATGATGTGGGTCTCGTTCTTTCTTCATTG CAGGCTAGTATATACCGAGGGGGATACAACCGTTTTGCTCCATACTAAATGACAAAACCATAAAAACCTTCCAATGTGGGGAGAAAGGAA >66648_66648_20_PMM2-RBFOX1_PMM2_chr16_8906963_ENST00000566983_RBFOX1_chr16_7568149_ENST00000553186_length(amino acids)=547AA_BP=186 MDDFLQKLRQKIKIGVVGGSDFEKVQEQLGNDVVEKYDYVFPENGLVAYKDGKLLCRQNIQSHLGEALIQDLINYCLSYIAKIKLPKKRG TFIEFRNGMLNVSPIGRSCSQEERIEFYELDKKENIRQKFVADLRKEFAGKGLTFSIGGQISFDVFPDGWDKRYCLRHVENDGYKTIYFF GDKTMPGNQEAAAAPDTMAQPYASAQFAPPQNGIPAEYTAPHPHPAPEYTGQTTVPEHTLNLYPPAQTHSEQSPADTSAQTVSGTATQTD DAAPTDGQPQTQPSENTENKSQPKRLHVSNIPFRFRDPDLRQMFGQFGKILDVEIIFNERGSKGFGFVTFENSADADRAREKLHGTVVEG RKIEVNNATARVMTNKKTVNPYTNGWKLNPVVGAVYSPEFYAVPGFPYPAATAAAAYRGAHLRGRGRTVYNTFRAAAPPPPIPAYGGVVY QDGFYGADIYGGYAAYRYAQPTPATAAAYSDSYGRVYAADPYHHALAPAPTYGVGAMNAFAPLTDAKTRSHADDVGLVLSSLQASIYRGG -------------------------------------------------------------- >66648_66648_21_PMM2-RBFOX1_PMM2_chr16_8906963_ENST00000569958_RBFOX1_chr16_7568149_ENST00000422070_length(transcript)=1714nt_BP=382nt GCTAGAAACTGGGGACATGGCAGCGCCTGGCCCAGCGCTCTGCCTCTTCGACGTGGATGGGACCCTCACCGCCCCGCGGCAGAAAATTAC CAAAGAAATGGATGACTTCCTACAAAAATTGAGGCAGAAGATCAAAATCGGAGTGGTAGGCGGATCGGACTTTGAGAAAGTGCAGGAGCA ACTGGGAAATGATGAAAATATAAGACAAAAGTTTGTAGCAGATCTACGGAAAGAGTTTGCTGGAAAAGGCCTCACGTTTTCCATAGGAGG CCAGATCAGCTTTGATGTCTTTCCTGATGGATGGGACAAGAGATACTGTCTGCGACATGTGGAAAATGACGGTTATAAGACCATTTATTT CTTTGGAGACAAAACTATGCCAGGTAATCAGGAAGCAGCCGCTGCCCCTGACACAATGGCTCAGCCTTACGCTTCGGCCCAGTTTGCTCC CCCGCAGAACGGTATCCCCGCGGAATACACGGCCCCTCATCCCCACCCCGCGCCAGAGTACACAGGCCAGACCACGGTTCCCGAGCACAC ATTAAACCTGTACCCTCCCGCCCAGACGCACTCCGAGCAGAGCCCGGCGGACACGAGCGCTCAGACCGTCTCTGGCACCGCCACACAGAC AGATGACGCAGCACCGACGGATGGCCAGCCCCAGACACAACCTTCTGAAAACACGGAAAACAAGTCTCAGCCCAAGCGGCTGCATGTCTC CAATATCCCCTTCAGGTTCCGGGATCCGGACCTCAGACAAATGTTTGGTCAATTTGGTAAAATCTTAGATGTTGAAATTATTTTTAATGA GCGAGGCTCAAAGGGATTTGGTTTCGTAACTTTCGAAAATAGTGCCGATGCGGACAGGGCGAGGGAGAAATTACACGGCACCGTGGTAGA GGGCCGTAAAATCGAGGTAAATAATGCCACAGCACGTGTAATGACAAATAAAAAGACCGTCAACCCTTATACAAATGGCTGGAAATTGAA TCCAGTTGTGGGTGCAGTCTACAGTCCCGAATTCTATGCAGGCACGGTCCTGTTGTGCCAGGCCAACCAGGAGGGATCTTCCATGTACAG TGCCCCCAGTTCACTTGTATATACTTCTGCAATGCCAGGCTTCCCGTATCCAGCAGCCACCGCCGCGGCCGCCTACCGAGGGGCGCACCT GCGAGGCCGCGGTCGCACCGTGTACAACACCTTCAGGGCCGCGGCGCCCCCGCCCCCGATCCCGGCCTACGGCGGTGTTGTTTACCAGGA TGGATTTTATGGTGCAGACATTTATGGTGGTTATGCTGCATACCGCTACGCCCAGCCTACCCCTGCCACTGCCGCTGCCTACAGTGACAG TTACGGACGAGTTTATGCTGCCGACCCCTACCACCACGCACTTGCTCCAGCCCCCACCTACGGCGTTGGTGCCATGCCCCAAGGTTCCAG CCCCAGCACAGACTTCAGAGGAGCTAAGCTGCACACTTCCAGGCCTCTGCTGTCAGGCAGCTGAGAATCTGACTGCCTCTCCTCCCCTAT TACAATTCATGTTTAAAGTCATAGTCGCCCAGGAAAGAAAATAGAGAGGGGCACACTTTGTGTGTGTACCTAGTACATAAGAAAGTAGAA GGAATCAGCTGGGTTTGGGGGTTGCCTTTTGTTTTGGGGCAGGTCTGGGTTTTTGTTTTGGGAGGGGGTGGGGGGAGGGTAAAAAATGGG >66648_66648_21_PMM2-RBFOX1_PMM2_chr16_8906963_ENST00000569958_RBFOX1_chr16_7568149_ENST00000422070_length(amino acids)=495AA_BP=122 MAAPGPALCLFDVDGTLTAPRQKITKEMDDFLQKLRQKIKIGVVGGSDFEKVQEQLGNDENIRQKFVADLRKEFAGKGLTFSIGGQISFD VFPDGWDKRYCLRHVENDGYKTIYFFGDKTMPGNQEAAAAPDTMAQPYASAQFAPPQNGIPAEYTAPHPHPAPEYTGQTTVPEHTLNLYP PAQTHSEQSPADTSAQTVSGTATQTDDAAPTDGQPQTQPSENTENKSQPKRLHVSNIPFRFRDPDLRQMFGQFGKILDVEIIFNERGSKG FGFVTFENSADADRAREKLHGTVVEGRKIEVNNATARVMTNKKTVNPYTNGWKLNPVVGAVYSPEFYAGTVLLCQANQEGSSMYSAPSSL VYTSAMPGFPYPAATAAAAYRGAHLRGRGRTVYNTFRAAAPPPPIPAYGGVVYQDGFYGADIYGGYAAYRYAQPTPATAAAYSDSYGRVY -------------------------------------------------------------- >66648_66648_22_PMM2-RBFOX1_PMM2_chr16_8906963_ENST00000569958_RBFOX1_chr16_7568149_ENST00000535565_length(transcript)=1525nt_BP=382nt GCTAGAAACTGGGGACATGGCAGCGCCTGGCCCAGCGCTCTGCCTCTTCGACGTGGATGGGACCCTCACCGCCCCGCGGCAGAAAATTAC CAAAGAAATGGATGACTTCCTACAAAAATTGAGGCAGAAGATCAAAATCGGAGTGGTAGGCGGATCGGACTTTGAGAAAGTGCAGGAGCA ACTGGGAAATGATGAAAATATAAGACAAAAGTTTGTAGCAGATCTACGGAAAGAGTTTGCTGGAAAAGGCCTCACGTTTTCCATAGGAGG CCAGATCAGCTTTGATGTCTTTCCTGATGGATGGGACAAGAGATACTGTCTGCGACATGTGGAAAATGACGGTTATAAGACCATTTATTT CTTTGGAGACAAAACTATGCCAGGTAATCAGGAAGCAGCCGCTGCCCCTGACACAATGGCTCAGCCTTACGCTTCGGCCCAGTTTGCTCC CCCGCAGAACGGTATCCCCGCGGAATACACGGCCCCTCATCCCCACCCCGCGCCAGAGTACACAGGCCAGACCACGGTTCCCGAGCACAC ATTAAACCTGTACCCTCCCGCCCAGACGCACTCCGAGCAGAGCCCGGCGGACACGAGCGCTCAGACCGTCTCTGGCACCGCCACACAATT TGGTAAAATCTTAGATGTTGAAATTATTTTTAATGAGCGAGGCTCAAAGGTAAATAATGCCACAGCACGTGTAATGACAAATAAAAAGAC CGTCAACCCTTATACAAATGGCTGGAAATTGAATCCAGTTGTGGGTGCAGTCTACAGTCCCGAATTCTATGCAGGCACGGTCCTGTTGTG CCAGGCCAACCAGGAGGGATCTTCCATGTACAGTGCCCCCAGTTCACTTGTATATACTTCTGCAATGCCAGGCTTCCCGTATCCAGCAGC CACCGCCGCGGCCGCCTACCGAGGGGCGCACCTGCGAGGCCGCGGTCGCACCGTGTACAACACCTTCAGGGCCGCGGCGCCCCCGCCCCC GATCCCGGCCTACGGCGGTGTTGTTTACCAGGATGGATTTTATGGTGCAGACATTTATGGTGGTTATGCTGCATACCGCTACGCCCAGCC TACCCCTGCCACTGCCGCTGCCTACAGTGACAGAAATCAGTTCGTCTTCGTTGCAGCAGATGAAATTTCTTGTAACACCTCTGCAGTTAC GGACGAGTTTATGCTGCCGACCCCTACCACCACGCACTTGCTCCAGCCCCCACCTACGGCGTTGGTGCCATGCCCCAAGGTTCCAGCCCC AGCACAGACTTCAGAGGAGCTAAGCTGCACACTTCCAGGCCTCTGCTGTCAGGCAGCTGAGAATCTGACTGCCTCTCCTCCCCTATTACA ATTCATGTTTAAAGTCATAGTCGCCCAGGAAAGAAAATAGAGAGGGGCACACTTTGTGTGTGTACCTAGTACATAAGAAAGTAGAAGGAA >66648_66648_22_PMM2-RBFOX1_PMM2_chr16_8906963_ENST00000569958_RBFOX1_chr16_7568149_ENST00000535565_length(amino acids)=457AA_BP=122 MAAPGPALCLFDVDGTLTAPRQKITKEMDDFLQKLRQKIKIGVVGGSDFEKVQEQLGNDENIRQKFVADLRKEFAGKGLTFSIGGQISFD VFPDGWDKRYCLRHVENDGYKTIYFFGDKTMPGNQEAAAAPDTMAQPYASAQFAPPQNGIPAEYTAPHPHPAPEYTGQTTVPEHTLNLYP PAQTHSEQSPADTSAQTVSGTATQFGKILDVEIIFNERGSKVNNATARVMTNKKTVNPYTNGWKLNPVVGAVYSPEFYAGTVLLCQANQE GSSMYSAPSSLVYTSAMPGFPYPAATAAAAYRGAHLRGRGRTVYNTFRAAAPPPPIPAYGGVVYQDGFYGADIYGGYAAYRYAQPTPATA AAYSDRNQFVFVAADEISCNTSAVTDEFMLPTPTTTHLLQPPPTALVPCPKVPAPAQTSEELSCTLPGLCCQAAENLTASPPLLQFMFKV -------------------------------------------------------------- >66648_66648_23_PMM2-RBFOX1_PMM2_chr16_8906963_ENST00000569958_RBFOX1_chr16_7568149_ENST00000547372_length(transcript)=3444nt_BP=382nt GCTAGAAACTGGGGACATGGCAGCGCCTGGCCCAGCGCTCTGCCTCTTCGACGTGGATGGGACCCTCACCGCCCCGCGGCAGAAAATTAC CAAAGAAATGGATGACTTCCTACAAAAATTGAGGCAGAAGATCAAAATCGGAGTGGTAGGCGGATCGGACTTTGAGAAAGTGCAGGAGCA ACTGGGAAATGATGAAAATATAAGACAAAAGTTTGTAGCAGATCTACGGAAAGAGTTTGCTGGAAAAGGCCTCACGTTTTCCATAGGAGG CCAGATCAGCTTTGATGTCTTTCCTGATGGATGGGACAAGAGATACTGTCTGCGACATGTGGAAAATGACGGTTATAAGACCATTTATTT CTTTGGAGACAAAACTATGCCAGGTAATCAGGAAGCAGCCGCTGCCCCTGACACAATGGCTCAGCCTTACGCTTCGGCCCAGTTTGCTCC CCCGCAGAACGGTATCCCCGCGGAATACACGGCCCCTCATCCCCACCCCGCGCCAGAGTACACAGGCCAGACCACGGTTCCCGAGCACAC ATTAAACCTGTACCCTCCCGCCCAGACGCACTCCGAGCAGAGCCCGGCGGACACGAGCGCTCAGACCGTCTCTGGCACCGCCACACAGAC AGATGACGCAGCACCGACGGATGGCCAGCCCCAGACACAACCTTCTGAAAACACGGAAAACAAGTCTCAGCCCAAGCGGCTGCATGTCTC CAATATCCCCTTCAGGTTCCGGGATCCGGACCTCAGACAAATGTTTGGTCAATTTGGTAAAATCTTAGATGTTGAAATTATTTTTAATGA GCGAGGCTCAAAGGGATTTGGTTTCGTAACTTTCGAAAATAGTGCCGATGCGGACAGGGCGAGGGAGAAATTACACGGCACCGTGGTAGA GGGCCGTAAAATCGAGGTAAATAATGCCACAGCACGTGTAATGACAAATAAAAAGACCGTCAACCCTTATACAAATGGCTGGAAATTGAA TCCAGTTGTGGGTGCAGTCTACAGTCCCGAATTCTATGCAGGCACGGTCCTGTTGTGCCAGGCCAACCAGGAGGGATCTTCCATGTACAG TGCCCCCAGTTCACTTGTATATACTTCTGCAATGCCAGGCTTCCCGTATCCAGCAGCCACCGCCGCGGCCGCCTACCGAGGGGCGCACCT GCGAGGCCGCGGTCGCACCGTGTACAACACCTTCAGGGCCGCGGCGCCCCCGCCCCCGATCCCGGCCTACGGCGGTGTTGTTTACCAGGA TGGATTTTATGGTGCAGACATTTATGGTGGTTATGCTGCATACCGCTACGCCCAGCCTACCCCTGCCACTGCCGCTGCCTACAGTGACAG AAATCAGTTCGTCTTCGTTGCAGCAGATGAAATTTCTTGTAACACCTCTGCAGTTACGGACGAGTTTATGCTGCCGACCCCTACCACCAC GCACTTGCTCCAGCCCCCACCTACGGCGTTGGTGCCATGCCCCAAGGTTCCAGCCCCAGCACAGACTTCAGAGGAGCTAAGCTGCACACT TCCAGGCCTCTGCTGTCAGGCAGCTGAGAATCTGACTGCCTCTCCTCCCCTATTACAATTCATGTTTAAAGTCATAGTCGCCCAGGAAAG AAAATAGAGAGGGGCACACTTTGTGTGTGTACCTAGTACATAAGAAAGTAGAAGGAATCAGCTGGGTTTGGGGGTTGCCTTTTGTTTTGG GGCAGGTCTGGGTTTTTGTTTTGGGAGGGGGTGGGGGGAGGGTAAAAAATGGGAGGTAAGGGTGGGGTGAACTTGCCTGTACTTGTTCAA ACTTCTATGCACTGAAACTCTTGAGTACAGTAAGACGTGCCCATCACGTGAGAGCATATGCAATCATTACAAAGCTTTGGCATGCAGTTT TCTGCTTGGATCAAGAATATCAGTCCTTACCCTAAAAATGAATCCCCATAGGCATTCATTTGAATTGCCAATACTTTTAGAAAAAGGAAA TCGTTAAGTGCCACCTTGTAGCCATTAAAACCATGGCCGGACAGTTCACTGAAGCTCAGTCATAGAAATTCAGCCATGATTTGGAAGCAT TGTTTTGCACAAGCTTAATTACATCAAGCAATTCATCTGTACAACTCCACAACTCCCTTCTCAAGATCAGATTCCATACAGCTTACAGAG CCAAGTTAAGTAAGAAGTAGGTTGAGATTTTCATCCCAATTCTGCATTCAACAACTCTGCTTCAACACCTAGTCCACATGAGGAATGTGT TGGAGAGTTGAATTACATTCAACAACTGGTCCAAATTCAACCTCAAGTGCAGATTATTCTGTTATAAAAAAATGAGACAGTGAAAATCCT TCCATTGTCCAGCTTATAATAGAGTCCTTTTAGCTAAGAGGACTGGCTGACAGAATTTGGTTTTGCAGGGAATTTCTTTAGGAGGAGCTA TTGGGGAAGGTCAGGAATGGCCCTATCTTTAGTTCTCCAAGAATGACCTGGGATGGGTAGGGGGTGCCTCCATTTCGGTTGGTTTTGAGT GTCTATTTTTCACATTAGTCTTTTTGATGATCCACATGTTGCAAAAGGAAAATGTAAAAAACACACCCCTCAAATTGCTTTGTTTCAGAA TGCTTTTGCACCTTTGACTGATGCCAAGACTAGGAGCCATGCTGATGATGTGGGTCTCGTTCTTTCTTCATTGCAGGCTAGTATATACCG AGGGGGATACAACCGTTTTGCTCCATACTAAATGACAAAACCATAAAAACCTTCCAATGTGGGGAGAAAGGAAGCTTTCCGAGGCCTGAG TATTGCAATACATGCAGTAGTACATCATTTTAGCAACTCTAAAAAAAAAAAAAATACAAATAAAAAGGAAAAAAAATTACATTTTTTATC TTATACCTCAGATATTTTGTTCTGTGTATTTTAATATTGTGGGTCTTTAATTTCTGAAGGTTCCGTAGTTTGGTTGCTGGCTGTAGGAGT TTTTGTGGTTGATCTAGACAGATGCTAGATAATGAATAAAAACTGGTTTAGGGCCATATCCAGAGTGCTATATTATGTAAATGAATTATA TATGCTGAATATTAAGCTACTGGGGTTATCAGCTATTTGGGAAGAGTGTAAGTGACTACAGTAGTCATTTTTTTCTGCACCTGCATTATT TTATTTTGCGAAAGGGGAGGTTGGGAGGGGCTTAGGGGATTGGAACTGGGGTTTGGCTGAAAGAAAAAAAAAAAAATGTAACTGATGAAT CTAAACGACCCACTGCACCAACAATCATTTATCAATGGTTCTAAGTTACTCATTGCCAGTTCAAGCCAAAGGTCATGTTGTTAAGGGGGT GCTTCTAGTAGCACTTGTGCATCTGAGTTGAATGAAGCTGTGCAAACCCACCCTTTAAACCATTCCACCCGGCAGTATTCAGCTTCTTAA >66648_66648_23_PMM2-RBFOX1_PMM2_chr16_8906963_ENST00000569958_RBFOX1_chr16_7568149_ENST00000547372_length(amino acids)=536AA_BP=122 MAAPGPALCLFDVDGTLTAPRQKITKEMDDFLQKLRQKIKIGVVGGSDFEKVQEQLGNDENIRQKFVADLRKEFAGKGLTFSIGGQISFD VFPDGWDKRYCLRHVENDGYKTIYFFGDKTMPGNQEAAAAPDTMAQPYASAQFAPPQNGIPAEYTAPHPHPAPEYTGQTTVPEHTLNLYP PAQTHSEQSPADTSAQTVSGTATQTDDAAPTDGQPQTQPSENTENKSQPKRLHVSNIPFRFRDPDLRQMFGQFGKILDVEIIFNERGSKG FGFVTFENSADADRAREKLHGTVVEGRKIEVNNATARVMTNKKTVNPYTNGWKLNPVVGAVYSPEFYAGTVLLCQANQEGSSMYSAPSSL VYTSAMPGFPYPAATAAAAYRGAHLRGRGRTVYNTFRAAAPPPPIPAYGGVVYQDGFYGADIYGGYAAYRYAQPTPATAAAYSDRNQFVF -------------------------------------------------------------- >66648_66648_24_PMM2-RBFOX1_PMM2_chr16_8906963_ENST00000569958_RBFOX1_chr16_7568149_ENST00000550418_length(transcript)=1644nt_BP=382nt GCTAGAAACTGGGGACATGGCAGCGCCTGGCCCAGCGCTCTGCCTCTTCGACGTGGATGGGACCCTCACCGCCCCGCGGCAGAAAATTAC CAAAGAAATGGATGACTTCCTACAAAAATTGAGGCAGAAGATCAAAATCGGAGTGGTAGGCGGATCGGACTTTGAGAAAGTGCAGGAGCA ACTGGGAAATGATGAAAATATAAGACAAAAGTTTGTAGCAGATCTACGGAAAGAGTTTGCTGGAAAAGGCCTCACGTTTTCCATAGGAGG CCAGATCAGCTTTGATGTCTTTCCTGATGGATGGGACAAGAGATACTGTCTGCGACATGTGGAAAATGACGGTTATAAGACCATTTATTT CTTTGGAGACAAAACTATGCCAGGTAATCAGGAAGCAGCCGCTGCCCCTGACACAATGGCTCAGCCTTACGCTTCGGCCCAGTTTGCTCC CCCGCAGAACGGTATCCCCGCGGAATACACGGCCCCTCATCCCCACCCCGCGCCAGAGTACACAGGCCAGACCACGGTTCCCGAGCACAC ATTAAACCTGTACCCTCCCGCCCAGACGCACTCCGAGCAGAGCCCGGCGGACACGAGCGCTCAGACCGTCTCTGGCACCGCCACACAGAC AGATGACGCAGCACCGACGGATGGCCAGCCCCAGACACAACCTTCTGAAAACACGGAAAACAAGTCTCAGCCCAAGCGGCTGCATGTCTC CAATATCCCCTTCAGGTTCCGGGATCCGGACCTCAGACAAATGTTTGGTCAATTTGGTAAAATCTTAGATGTTGAAATTATTTTTAATGA GCGAGGCTCAAAGGGATTTGGTTTCGTAACTTTCGAAAATAGTGCCGATGCGGACAGGGCGAGGGAGAAATTACACGGCACCGTGGTAGA GGGCCGTAAAATCGAGGTAAATAATGCCACAGCACGTGTAATGACAAATAAAAAGACCGTCAACCCTTATACAAATGGCTGGAAATTGAA TCCAGTTGTGGGTGCAGTCTACAGTCCCGAATTCTATGCAGGCACGGTCCTGTTGTGCCAGGCCAACCAGGAGGGATCTTCCATGTACAG TGCCCCCAGTTCACTTGTATATACTTCTGCAATGCCAGGCTTCCCGTATCCAGCAGCCACCGCCGCGGCCGCCTACCGAGGGGCGCACCT GCGAGGCCGCGGTCGCACCGTGTACAACACCTTCAGGGCCGCGGCGCCCCCGCCCCCGATCCCGGCCTACGGCGGTGTTGTTTACCAGGA TGGATTTTATGGTGCAGACATTTATGGTGGTTATGCTGCATACCGCTACGCCCAGCCTACCCCTGCCACTGCCGCTGCCTACAGTGACAG TTACGGACGAGTTTATGCTGCCGACCCCTACCACCACGCACTTGCTCCAGCCCCCACCTACGGCGTTGGTGCCATGAATGCTTTTGCACC TTTGACTGATGCCAAGACTAGGAGCCATGCTGATGATGTGGGTCTCGTTCTTTCTTCATTGCAGGCTAGTATATACCGAGGGGGATACAA CCGTTTTGCTCCATACTAAATGACAAAACCATAAAAACCTTCCAATGTGGGGAGAAAGGAAGCTTTCCGAGGCCTGAGTATTGCAATACA >66648_66648_24_PMM2-RBFOX1_PMM2_chr16_8906963_ENST00000569958_RBFOX1_chr16_7568149_ENST00000550418_length(amino acids)=510AA_BP=122 MAAPGPALCLFDVDGTLTAPRQKITKEMDDFLQKLRQKIKIGVVGGSDFEKVQEQLGNDENIRQKFVADLRKEFAGKGLTFSIGGQISFD VFPDGWDKRYCLRHVENDGYKTIYFFGDKTMPGNQEAAAAPDTMAQPYASAQFAPPQNGIPAEYTAPHPHPAPEYTGQTTVPEHTLNLYP PAQTHSEQSPADTSAQTVSGTATQTDDAAPTDGQPQTQPSENTENKSQPKRLHVSNIPFRFRDPDLRQMFGQFGKILDVEIIFNERGSKG FGFVTFENSADADRAREKLHGTVVEGRKIEVNNATARVMTNKKTVNPYTNGWKLNPVVGAVYSPEFYAGTVLLCQANQEGSSMYSAPSSL VYTSAMPGFPYPAATAAAAYRGAHLRGRGRTVYNTFRAAAPPPPIPAYGGVVYQDGFYGADIYGGYAAYRYAQPTPATAAAYSDSYGRVY -------------------------------------------------------------- >66648_66648_25_PMM2-RBFOX1_PMM2_chr16_8906963_ENST00000569958_RBFOX1_chr16_7568149_ENST00000553186_length(transcript)=1563nt_BP=382nt GCTAGAAACTGGGGACATGGCAGCGCCTGGCCCAGCGCTCTGCCTCTTCGACGTGGATGGGACCCTCACCGCCCCGCGGCAGAAAATTAC CAAAGAAATGGATGACTTCCTACAAAAATTGAGGCAGAAGATCAAAATCGGAGTGGTAGGCGGATCGGACTTTGAGAAAGTGCAGGAGCA ACTGGGAAATGATGAAAATATAAGACAAAAGTTTGTAGCAGATCTACGGAAAGAGTTTGCTGGAAAAGGCCTCACGTTTTCCATAGGAGG CCAGATCAGCTTTGATGTCTTTCCTGATGGATGGGACAAGAGATACTGTCTGCGACATGTGGAAAATGACGGTTATAAGACCATTTATTT CTTTGGAGACAAAACTATGCCAGGTAATCAGGAAGCAGCCGCTGCCCCTGACACAATGGCTCAGCCTTACGCTTCGGCCCAGTTTGCTCC CCCGCAGAACGGTATCCCCGCGGAATACACGGCCCCTCATCCCCACCCCGCGCCAGAGTACACAGGCCAGACCACGGTTCCCGAGCACAC ATTAAACCTGTACCCTCCCGCCCAGACGCACTCCGAGCAGAGCCCGGCGGACACGAGCGCTCAGACCGTCTCTGGCACCGCCACACAGAC AGATGACGCAGCACCGACGGATGGCCAGCCCCAGACACAACCTTCTGAAAACACGGAAAACAAGTCTCAGCCCAAGCGGCTGCATGTCTC CAATATCCCCTTCAGGTTCCGGGATCCGGACCTCAGACAAATGTTTGGTCAATTTGGTAAAATCTTAGATGTTGAAATTATTTTTAATGA GCGAGGCTCAAAGGGATTTGGTTTCGTAACTTTCGAAAATAGTGCCGATGCGGACAGGGCGAGGGAGAAATTACACGGCACCGTGGTAGA GGGCCGTAAAATCGAGGTAAATAATGCCACAGCACGTGTAATGACAAATAAAAAGACCGTCAACCCTTATACAAATGGCTGGAAATTGAA TCCAGTTGTGGGTGCAGTCTACAGTCCCGAATTCTATGCAGTGCCAGGCTTCCCGTATCCAGCAGCCACCGCCGCGGCCGCCTACCGAGG GGCGCACCTGCGAGGCCGCGGTCGCACCGTGTACAACACCTTCAGGGCCGCGGCGCCCCCGCCCCCGATCCCGGCCTACGGCGGTGTTGT TTACCAGGATGGATTTTATGGTGCAGACATTTATGGTGGTTATGCTGCATACCGCTACGCCCAGCCTACCCCTGCCACTGCCGCTGCCTA CAGTGACAGTTACGGACGAGTTTATGCTGCCGACCCCTACCACCACGCACTTGCTCCAGCCCCCACCTACGGCGTTGGTGCCATGAATGC TTTTGCACCTTTGACTGATGCCAAGACTAGGAGCCATGCTGATGATGTGGGTCTCGTTCTTTCTTCATTGCAGGCTAGTATATACCGAGG GGGATACAACCGTTTTGCTCCATACTAAATGACAAAACCATAAAAACCTTCCAATGTGGGGAGAAAGGAAGCTTTCCGAGGCCTGAGTAT >66648_66648_25_PMM2-RBFOX1_PMM2_chr16_8906963_ENST00000569958_RBFOX1_chr16_7568149_ENST00000553186_length(amino acids)=483AA_BP=122 MAAPGPALCLFDVDGTLTAPRQKITKEMDDFLQKLRQKIKIGVVGGSDFEKVQEQLGNDENIRQKFVADLRKEFAGKGLTFSIGGQISFD VFPDGWDKRYCLRHVENDGYKTIYFFGDKTMPGNQEAAAAPDTMAQPYASAQFAPPQNGIPAEYTAPHPHPAPEYTGQTTVPEHTLNLYP PAQTHSEQSPADTSAQTVSGTATQTDDAAPTDGQPQTQPSENTENKSQPKRLHVSNIPFRFRDPDLRQMFGQFGKILDVEIIFNERGSKG FGFVTFENSADADRAREKLHGTVVEGRKIEVNNATARVMTNKKTVNPYTNGWKLNPVVGAVYSPEFYAVPGFPYPAATAAAAYRGAHLRG RGRTVYNTFRAAAPPPPIPAYGGVVYQDGFYGADIYGGYAAYRYAQPTPATAAAYSDSYGRVYAADPYHHALAPAPTYGVGAMNAFAPLT -------------------------------------------------------------- |
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Fusion Gene PPI Analysis for PMM2-RBFOX1 |
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 PMM2-RBFOX1 |
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 PMM2-RBFOX1 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |