|
||||||
|
 | 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:LARGE-ATP6V1E1 (FusionGDB2 ID:44101) |
Fusion Gene Summary for LARGE-ATP6V1E1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: LARGE-ATP6V1E1 | Fusion gene ID: 44101 | Hgene | Tgene | Gene symbol | LARGE | ATP6V1E1 | Gene ID | 9215 | 529 |
| Gene name | LARGE xylosyl- and glucuronyltransferase 1 | ATPase H+ transporting V1 subunit E1 | |
| Synonyms | LARGE|MDC1D|MDDGA6|MDDGB6 | ARCL2C|ATP6E|ATP6E2|ATP6V1E|P31|Vma4 | |
| Cytomap | 22q12.3 | 22q11.21 | |
| Type of gene | protein-coding | protein-coding | |
| Description | LARGE xylosyl- and glucuronyltransferase 1acetylglucosaminyltransferase-like 1Aacetylglucosaminyltransferase-like proteinglycosyltransferase-like protein LARGE1 | V-type proton ATPase subunit E 1ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1H(+)-transporting two-sector ATPase, 31kDa subunitH+-transporting ATP synthase chain E, vacuolarV-ATPase 31 kDa subunitV-ATPase subunit E 1V-ATPase, subunit Evac | |
| Modification date | 20200328 | 20200313 | |
| UniProtAcc | GYLTL1B,LARGE2 | P36543 | |
| Ensembl transtripts involved in fusion gene | ENST00000337431, ENST00000354992, ENST00000397394, ENST00000402320, ENST00000437602, ENST00000452586, ENST00000421232, | ENST00000478963, ENST00000253413, ENST00000399796, ENST00000399798, | |
| Fusion gene scores | * DoF score | 10 X 9 X 6=540 | 7 X 8 X 4=224 |
| # samples | 13 | 10 | |
| ** MAII score | log2(13/540*10)=-2.05444778402238 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(10/224*10)=-1.16349873228288 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: LARGE [Title/Abstract] AND ATP6V1E1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | LARGE(33960834)-ATP6V1E1(18096086), # samples:1 | ||
| Anticipated loss of major functional domain due to fusion event. | LARGE-ATP6V1E1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF. LARGE-ATP6V1E1 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF. LARGE-ATP6V1E1 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF. | ||
| * DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
| 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 |
| Hgene | LARGE | GO:0035269 | protein O-linked mannosylation | 22223806|25138275|25279697|25279699 |
| Fusion gene breakpoints across LARGE (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 ATP6V1E1 (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
 |
| Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0) * All genome coordinats were lifted-over on hg19. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
| Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChimerDB4 | BRCA | TCGA-BH-A18U-01A | LARGE | chr22 | 33960834 | - | ATP6V1E1 | chr22 | 18096086 | - |
Top |
Fusion Gene ORF analysis for LARGE-ATP6V1E1 |
| 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-5UTR | ENST00000337431 | ENST00000478963 | LARGE | chr22 | 33960834 | - | ATP6V1E1 | chr22 | 18096086 | - |
| 5CDS-5UTR | ENST00000354992 | ENST00000478963 | LARGE | chr22 | 33960834 | - | ATP6V1E1 | chr22 | 18096086 | - |
| 5CDS-5UTR | ENST00000397394 | ENST00000478963 | LARGE | chr22 | 33960834 | - | ATP6V1E1 | chr22 | 18096086 | - |
| 5CDS-5UTR | ENST00000402320 | ENST00000478963 | LARGE | chr22 | 33960834 | - | ATP6V1E1 | chr22 | 18096086 | - |
| 5CDS-5UTR | ENST00000437602 | ENST00000478963 | LARGE | chr22 | 33960834 | - | ATP6V1E1 | chr22 | 18096086 | - |
| 5CDS-5UTR | ENST00000452586 | ENST00000478963 | LARGE | chr22 | 33960834 | - | ATP6V1E1 | chr22 | 18096086 | - |
| Frame-shift | ENST00000437602 | ENST00000253413 | LARGE | chr22 | 33960834 | - | ATP6V1E1 | chr22 | 18096086 | - |
| Frame-shift | ENST00000437602 | ENST00000399796 | LARGE | chr22 | 33960834 | - | ATP6V1E1 | chr22 | 18096086 | - |
| Frame-shift | ENST00000437602 | ENST00000399798 | LARGE | chr22 | 33960834 | - | ATP6V1E1 | chr22 | 18096086 | - |
| Frame-shift | ENST00000452586 | ENST00000253413 | LARGE | chr22 | 33960834 | - | ATP6V1E1 | chr22 | 18096086 | - |
| Frame-shift | ENST00000452586 | ENST00000399796 | LARGE | chr22 | 33960834 | - | ATP6V1E1 | chr22 | 18096086 | - |
| Frame-shift | ENST00000452586 | ENST00000399798 | LARGE | chr22 | 33960834 | - | ATP6V1E1 | chr22 | 18096086 | - |
| In-frame | ENST00000337431 | ENST00000253413 | LARGE | chr22 | 33960834 | - | ATP6V1E1 | chr22 | 18096086 | - |
| In-frame | ENST00000337431 | ENST00000399796 | LARGE | chr22 | 33960834 | - | ATP6V1E1 | chr22 | 18096086 | - |
| In-frame | ENST00000337431 | ENST00000399798 | LARGE | chr22 | 33960834 | - | ATP6V1E1 | chr22 | 18096086 | - |
| In-frame | ENST00000354992 | ENST00000253413 | LARGE | chr22 | 33960834 | - | ATP6V1E1 | chr22 | 18096086 | - |
| In-frame | ENST00000354992 | ENST00000399796 | LARGE | chr22 | 33960834 | - | ATP6V1E1 | chr22 | 18096086 | - |
| In-frame | ENST00000354992 | ENST00000399798 | LARGE | chr22 | 33960834 | - | ATP6V1E1 | chr22 | 18096086 | - |
| In-frame | ENST00000397394 | ENST00000253413 | LARGE | chr22 | 33960834 | - | ATP6V1E1 | chr22 | 18096086 | - |
| In-frame | ENST00000397394 | ENST00000399796 | LARGE | chr22 | 33960834 | - | ATP6V1E1 | chr22 | 18096086 | - |
| In-frame | ENST00000397394 | ENST00000399798 | LARGE | chr22 | 33960834 | - | ATP6V1E1 | chr22 | 18096086 | - |
| In-frame | ENST00000402320 | ENST00000253413 | LARGE | chr22 | 33960834 | - | ATP6V1E1 | chr22 | 18096086 | - |
| In-frame | ENST00000402320 | ENST00000399796 | LARGE | chr22 | 33960834 | - | ATP6V1E1 | chr22 | 18096086 | - |
| In-frame | ENST00000402320 | ENST00000399798 | LARGE | chr22 | 33960834 | - | ATP6V1E1 | chr22 | 18096086 | - |
| intron-3CDS | ENST00000421232 | ENST00000253413 | LARGE | chr22 | 33960834 | - | ATP6V1E1 | chr22 | 18096086 | - |
| intron-3CDS | ENST00000421232 | ENST00000399796 | LARGE | chr22 | 33960834 | - | ATP6V1E1 | chr22 | 18096086 | - |
| intron-3CDS | ENST00000421232 | ENST00000399798 | LARGE | chr22 | 33960834 | - | ATP6V1E1 | chr22 | 18096086 | - |
| intron-5UTR | ENST00000421232 | ENST00000478963 | LARGE | chr22 | 33960834 | - | ATP6V1E1 | chr22 | 18096086 | - |
| 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) |
| ENST00000337431 | LARGE | chr22 | 33960834 | - | ENST00000253413 | ATP6V1E1 | chr22 | 18096086 | - | 2396 | 1276 | 459 | 1349 | 296 |
| ENST00000337431 | LARGE | chr22 | 33960834 | - | ENST00000399796 | ATP6V1E1 | chr22 | 18096086 | - | 2273 | 1276 | 459 | 1349 | 296 |
| ENST00000337431 | LARGE | chr22 | 33960834 | - | ENST00000399798 | ATP6V1E1 | chr22 | 18096086 | - | 2123 | 1276 | 459 | 1349 | 296 |
| ENST00000354992 | LARGE | chr22 | 33960834 | - | ENST00000253413 | ATP6V1E1 | chr22 | 18096086 | - | 2479 | 1359 | 542 | 1432 | 296 |
| ENST00000354992 | LARGE | chr22 | 33960834 | - | ENST00000399796 | ATP6V1E1 | chr22 | 18096086 | - | 2356 | 1359 | 542 | 1432 | 296 |
| ENST00000354992 | LARGE | chr22 | 33960834 | - | ENST00000399798 | ATP6V1E1 | chr22 | 18096086 | - | 2206 | 1359 | 542 | 1432 | 296 |
| ENST00000397394 | LARGE | chr22 | 33960834 | - | ENST00000253413 | ATP6V1E1 | chr22 | 18096086 | - | 2423 | 1303 | 354 | 1376 | 340 |
| ENST00000397394 | LARGE | chr22 | 33960834 | - | ENST00000399796 | ATP6V1E1 | chr22 | 18096086 | - | 2300 | 1303 | 354 | 1376 | 340 |
| ENST00000397394 | LARGE | chr22 | 33960834 | - | ENST00000399798 | ATP6V1E1 | chr22 | 18096086 | - | 2150 | 1303 | 354 | 1376 | 340 |
| ENST00000402320 | LARGE | chr22 | 33960834 | - | ENST00000253413 | ATP6V1E1 | chr22 | 18096086 | - | 2409 | 1289 | 340 | 1362 | 340 |
| ENST00000402320 | LARGE | chr22 | 33960834 | - | ENST00000399796 | ATP6V1E1 | chr22 | 18096086 | - | 2286 | 1289 | 340 | 1362 | 340 |
| ENST00000402320 | LARGE | chr22 | 33960834 | - | ENST00000399798 | ATP6V1E1 | chr22 | 18096086 | - | 2136 | 1289 | 340 | 1362 | 340 |
| 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 |
| ENST00000337431 | ENST00000253413 | LARGE | chr22 | 33960834 | - | ATP6V1E1 | chr22 | 18096086 | - | 0.007760462 | 0.9922395 |
| ENST00000337431 | ENST00000399796 | LARGE | chr22 | 33960834 | - | ATP6V1E1 | chr22 | 18096086 | - | 0.009447224 | 0.9905528 |
| ENST00000337431 | ENST00000399798 | LARGE | chr22 | 33960834 | - | ATP6V1E1 | chr22 | 18096086 | - | 0.011206517 | 0.98879343 |
| ENST00000354992 | ENST00000253413 | LARGE | chr22 | 33960834 | - | ATP6V1E1 | chr22 | 18096086 | - | 0.008759102 | 0.9912409 |
| ENST00000354992 | ENST00000399796 | LARGE | chr22 | 33960834 | - | ATP6V1E1 | chr22 | 18096086 | - | 0.00935459 | 0.9906454 |
| ENST00000354992 | ENST00000399798 | LARGE | chr22 | 33960834 | - | ATP6V1E1 | chr22 | 18096086 | - | 0.012313242 | 0.9876867 |
| ENST00000397394 | ENST00000253413 | LARGE | chr22 | 33960834 | - | ATP6V1E1 | chr22 | 18096086 | - | 0.008336827 | 0.9916632 |
| ENST00000397394 | ENST00000399796 | LARGE | chr22 | 33960834 | - | ATP6V1E1 | chr22 | 18096086 | - | 0.008822752 | 0.9911773 |
| ENST00000397394 | ENST00000399798 | LARGE | chr22 | 33960834 | - | ATP6V1E1 | chr22 | 18096086 | - | 0.01155444 | 0.9884455 |
| ENST00000402320 | ENST00000253413 | LARGE | chr22 | 33960834 | - | ATP6V1E1 | chr22 | 18096086 | - | 0.008965791 | 0.9910342 |
| ENST00000402320 | ENST00000399796 | LARGE | chr22 | 33960834 | - | ATP6V1E1 | chr22 | 18096086 | - | 0.009811476 | 0.99018854 |
| ENST00000402320 | ENST00000399798 | LARGE | chr22 | 33960834 | - | ATP6V1E1 | chr22 | 18096086 | - | 0.012378212 | 0.98762184 |
Top |
Fusion Genomic Features for LARGE-ATP6V1E1 |
| 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) |
| 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. |
Top |
Fusion Protein Features for LARGE-ATP6V1E1 |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr22:33960834/chr22:18096086) - 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 |
| LARGE | ATP6V1E1 |
| 721 | FUNCTION: Subunit of the peripheral V1 complex of vacuolar ATPase essential for assembly or catalytic function. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells. |
| Retention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at * Minus value of BPloci means that the break pointn is located before the CDS. |
| - In-frame and retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| Hgene | LARGE | chr22:33960834 | chr22:18096086 | ENST00000337431 | - | 7 | 15 | 53_95 | 262 | 705.0 | Coiled coil | Ontology_term=ECO:0000255 |
| Hgene | LARGE | chr22:33960834 | chr22:18096086 | ENST00000354992 | - | 7 | 16 | 53_95 | 262 | 757.0 | Coiled coil | Ontology_term=ECO:0000255 |
| Hgene | LARGE | chr22:33960834 | chr22:18096086 | ENST00000397394 | - | 6 | 15 | 53_95 | 262 | 757.0 | Coiled coil | Ontology_term=ECO:0000255 |
| Hgene | LARGE | chr22:33960834 | chr22:18096086 | ENST00000402320 | - | 6 | 14 | 53_95 | 262 | 705.0 | Coiled coil | Ontology_term=ECO:0000255 |
| Hgene | LARGE | chr22:33960834 | chr22:18096086 | ENST00000337431 | - | 7 | 15 | 1_10 | 262 | 705.0 | Topological domain | Cytoplasmic |
| Hgene | LARGE | chr22:33960834 | chr22:18096086 | ENST00000354992 | - | 7 | 16 | 1_10 | 262 | 757.0 | Topological domain | Cytoplasmic |
| Hgene | LARGE | chr22:33960834 | chr22:18096086 | ENST00000397394 | - | 6 | 15 | 1_10 | 262 | 757.0 | Topological domain | Cytoplasmic |
| Hgene | LARGE | chr22:33960834 | chr22:18096086 | ENST00000402320 | - | 6 | 14 | 1_10 | 262 | 705.0 | Topological domain | Cytoplasmic |
| Hgene | LARGE | chr22:33960834 | chr22:18096086 | ENST00000337431 | - | 7 | 15 | 11_31 | 262 | 705.0 | Transmembrane | Helical%3B Signal-anchor for type II membrane protein |
| Hgene | LARGE | chr22:33960834 | chr22:18096086 | ENST00000354992 | - | 7 | 16 | 11_31 | 262 | 757.0 | Transmembrane | Helical%3B Signal-anchor for type II membrane protein |
| Hgene | LARGE | chr22:33960834 | chr22:18096086 | ENST00000397394 | - | 6 | 15 | 11_31 | 262 | 757.0 | Transmembrane | Helical%3B Signal-anchor for type II membrane protein |
| Hgene | LARGE | chr22:33960834 | chr22:18096086 | ENST00000402320 | - | 6 | 14 | 11_31 | 262 | 705.0 | Transmembrane | Helical%3B Signal-anchor for type II membrane protein |
| - In-frame and not-retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| Hgene | LARGE | chr22:33960834 | chr22:18096086 | ENST00000337431 | - | 7 | 15 | 138_413 | 262 | 705.0 | Region | Xylosyltransferase activity |
| Hgene | LARGE | chr22:33960834 | chr22:18096086 | ENST00000337431 | - | 7 | 15 | 414_756 | 262 | 705.0 | Region | Glucuronyltransferase activity |
| Hgene | LARGE | chr22:33960834 | chr22:18096086 | ENST00000354992 | - | 7 | 16 | 138_413 | 262 | 757.0 | Region | Xylosyltransferase activity |
| Hgene | LARGE | chr22:33960834 | chr22:18096086 | ENST00000354992 | - | 7 | 16 | 414_756 | 262 | 757.0 | Region | Glucuronyltransferase activity |
| Hgene | LARGE | chr22:33960834 | chr22:18096086 | ENST00000397394 | - | 6 | 15 | 138_413 | 262 | 757.0 | Region | Xylosyltransferase activity |
| Hgene | LARGE | chr22:33960834 | chr22:18096086 | ENST00000397394 | - | 6 | 15 | 414_756 | 262 | 757.0 | Region | Glucuronyltransferase activity |
| Hgene | LARGE | chr22:33960834 | chr22:18096086 | ENST00000402320 | - | 6 | 14 | 138_413 | 262 | 705.0 | Region | Xylosyltransferase activity |
| Hgene | LARGE | chr22:33960834 | chr22:18096086 | ENST00000402320 | - | 6 | 14 | 414_756 | 262 | 705.0 | Region | Glucuronyltransferase activity |
| Hgene | LARGE | chr22:33960834 | chr22:18096086 | ENST00000337431 | - | 7 | 15 | 32_756 | 262 | 705.0 | Topological domain | Lumenal |
| Hgene | LARGE | chr22:33960834 | chr22:18096086 | ENST00000354992 | - | 7 | 16 | 32_756 | 262 | 757.0 | Topological domain | Lumenal |
| Hgene | LARGE | chr22:33960834 | chr22:18096086 | ENST00000397394 | - | 6 | 15 | 32_756 | 262 | 757.0 | Topological domain | Lumenal |
| Hgene | LARGE | chr22:33960834 | chr22:18096086 | ENST00000402320 | - | 6 | 14 | 32_756 | 262 | 705.0 | Topological domain | Lumenal |
Top |
Fusion Gene Sequence for LARGE-ATP6V1E1 |
| 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. |
| >44101_44101_1_LARGE-ATP6V1E1_LARGE_chr22_33960834_ENST00000337431_ATP6V1E1_chr22_18096086_ENST00000253413_length(transcript)=2396nt_BP=1276nt CGGCCCCGGCGGTCGCTCCCTGGACCCAACCCGAGGCTGACCCAGGCCCCTGCCCATGCGGGGCGCCCCTGGCTCGGAAGAGTCCCCCGG GCCGGGAGCAGCTCCAGGCAGCGGCCCCGGAGGAAGAGGAAGAAGGGACAGTGCTCAGCTTGGGGGACCCGGACCCTCGCCGCGGCATTT GGAGCCGGGGGCAGTCCCGAACTCTGTGCTTGGCACCGCCGCTCCGAGTAGGGCAGCGCCTGCCGGGACCCTGACCCGGACCCCCTGCGC CTCGTAGGCGGCGGCGCCGCCGCGCCACCCTGTTCTTCCGTGTCTCCCTCTGCCTGGCGGCAGTCACGGCCAAGAACCTACATTAAGAAA CGCATTCAGATGCATCAGCCGTTTGTAAAGCACCTGTCGTGAGCCAGAGAGTATTATGAGGGAGGCCGAGGACTTCATGCTCCGGACAGA GAAACGGCGCTGGGATTAGGGATTGCCACTTCTGAGAGGATGCTGGGAATCTGCAGGGGGAGACGGAAATTCTTGGCTGCCTCGTTGAGT CTTCTCTGCATCCCAGCCATCACCTGGATTTACCTGTTTTCTGGGAGCTTCGAAGATGGAAAGCCCGTGTCTCTGTCACCGCTGGAGTCC CAGGCACACAGCCCCAGGTACACGGCCTCCAGCCAGCGGGAGCGCGAGAGCCTGGAGGTGCGCATGCGCGAGGTGGAGGAGGAGAACCGC GCCCTCCGCAGGCAGCTCAGCCTGGCCCAGGGCCGAGCCCCATCCCATCGCCGAGGCAACCACTCCAAGACCTACTCCATGGAGGAGGGC ACTGGAGACAGCGAGAACCTTCGGGCTGGCATCGTGGCAGGCAACAGCTCCGAGTGTGGGCAGCAGCCGGTCGTGGAGAAATGCGAGACA ATCCACGTTGCTATTGTCTGCGCCGGATACAATGCCAGCCGGGATGTCGTCACCCTGGTCAAATCCGTCCTGTTCCATAGACGGAACCCT CTGCACTTCCACCTTATTGCTGACTCCATTGCGGAGCAGATCCTGGCCACGCTCTTCCAGACCTGGATGGTGCCCGCTGTGCGTGTGGAC TTCTACAATGCAGACGAGCTCAAGTCTGAAGTTTCCTGGATCCCCAATAAACATTACTCTGGGATTTATGGTCTGATGAAGCTTGTCCTG ACCAAGACTCTTCCTGCCAACCTGGAGAGAGTCATCGTCCTTGACACGGATATCACCTTTGCCACTGACATTGCAGAGCTGTGGGCTGTG TTCCACAAGTTCAAAGGCAGAAGAAGAGTTCAACATAGAGAAAGGTCGGCTTGTGCAAACCCAAAGACTAAAGATTATGGAATATTATGA GAAGAAAGAGAAACAGATTGAGCAGCAGAAGAAAATTCAGATGTCCAATTTGATGAATCAAGCGAGACTCAAAGTCCTCAGAGCAAGAGA TGACCTTATCACAGACCTACTAAATGAAGCAAAACAGAGACTCAGCAAGGTGGTAAAAGATACAACCAGGTACCAAGTGCTGCTGGATGG ACTGGTTCTCCAGGGTTTGTACCAGTTGCTGGAGCCCCGAATGATTGTTCGTTGCAGGAAACAAGATTTCCCTCTGGTAAAGGCTGCAGT GCAGAAGGCAATTCCTATGTACAAAATTGCCACCAAAAACGATGTTGATGTCCAAATTGACCAGGAGTCCTACCTGCCTGAAGACATAGC TGGTGGAGTTGAGATCTATAATGGAGATCGTAAAATAAAGGTTTCCAACACCCTGGAAAGCCGGCTGGATCTCATAGCCCAGCAGATGAT GCCAGAAGTCCGGGGAGCCTTGTTTGGTGCAAATGCCAACAGGAAGTTTTTGGACTAAGCCTTCAGGAGGTGGAGCTCGTCGTCAGCTCT CCTGCTGTGATGTGGAAGCTTCTGATATTTGAAGAAACACGAATGTCTCTGTAGCTTCCTCTTCACTGCCCCAGTATTGCTCTGTATTTA TCAGCGATGCCCCTCTGTCACTCATGCCTTGCCTAATTGTTCACAATGGTGGAAAGCTTCATGTAATATGATCAGGACCCACCTCCAGTT CTTCTGAAAGTGTGACAGTGTCCAGCCGGTTCTGCAGCACTAGGGGAGGGGGCAGATGGTGGTTGCATGGGCTTCCTGGGTCTCCACTCT CCGTCTGGCCTAAAGGTGATGTATTTGGTGTTTGGCCCTGCAGTCCCCACTCTTGAGGCTTAAGGCGCATGTGGCACACCACTCCTTCCA GCAGTAGTCGCTTTACTGTTACCTGTTTAGGCCTAGAAGTTTTCCCTCATCTGTAAATGTGATTTAAAATCTAAGCCATGAATATGCTTT >44101_44101_1_LARGE-ATP6V1E1_LARGE_chr22_33960834_ENST00000337431_ATP6V1E1_chr22_18096086_ENST00000253413_length(amino acids)=296AA_BP=272 MGLGIATSERMLGICRGRRKFLAASLSLLCIPAITWIYLFSGSFEDGKPVSLSPLESQAHSPRYTASSQRERESLEVRMREVEEENRALR RQLSLAQGRAPSHRRGNHSKTYSMEEGTGDSENLRAGIVAGNSSECGQQPVVEKCETIHVAIVCAGYNASRDVVTLVKSVLFHRRNPLHF HLIADSIAEQILATLFQTWMVPAVRVDFYNADELKSEVSWIPNKHYSGIYGLMKLVLTKTLPANLERVIVLDTDITFATDIAELWAVFHK -------------------------------------------------------------- >44101_44101_2_LARGE-ATP6V1E1_LARGE_chr22_33960834_ENST00000337431_ATP6V1E1_chr22_18096086_ENST00000399796_length(transcript)=2273nt_BP=1276nt CGGCCCCGGCGGTCGCTCCCTGGACCCAACCCGAGGCTGACCCAGGCCCCTGCCCATGCGGGGCGCCCCTGGCTCGGAAGAGTCCCCCGG GCCGGGAGCAGCTCCAGGCAGCGGCCCCGGAGGAAGAGGAAGAAGGGACAGTGCTCAGCTTGGGGGACCCGGACCCTCGCCGCGGCATTT GGAGCCGGGGGCAGTCCCGAACTCTGTGCTTGGCACCGCCGCTCCGAGTAGGGCAGCGCCTGCCGGGACCCTGACCCGGACCCCCTGCGC CTCGTAGGCGGCGGCGCCGCCGCGCCACCCTGTTCTTCCGTGTCTCCCTCTGCCTGGCGGCAGTCACGGCCAAGAACCTACATTAAGAAA CGCATTCAGATGCATCAGCCGTTTGTAAAGCACCTGTCGTGAGCCAGAGAGTATTATGAGGGAGGCCGAGGACTTCATGCTCCGGACAGA GAAACGGCGCTGGGATTAGGGATTGCCACTTCTGAGAGGATGCTGGGAATCTGCAGGGGGAGACGGAAATTCTTGGCTGCCTCGTTGAGT CTTCTCTGCATCCCAGCCATCACCTGGATTTACCTGTTTTCTGGGAGCTTCGAAGATGGAAAGCCCGTGTCTCTGTCACCGCTGGAGTCC CAGGCACACAGCCCCAGGTACACGGCCTCCAGCCAGCGGGAGCGCGAGAGCCTGGAGGTGCGCATGCGCGAGGTGGAGGAGGAGAACCGC GCCCTCCGCAGGCAGCTCAGCCTGGCCCAGGGCCGAGCCCCATCCCATCGCCGAGGCAACCACTCCAAGACCTACTCCATGGAGGAGGGC ACTGGAGACAGCGAGAACCTTCGGGCTGGCATCGTGGCAGGCAACAGCTCCGAGTGTGGGCAGCAGCCGGTCGTGGAGAAATGCGAGACA ATCCACGTTGCTATTGTCTGCGCCGGATACAATGCCAGCCGGGATGTCGTCACCCTGGTCAAATCCGTCCTGTTCCATAGACGGAACCCT CTGCACTTCCACCTTATTGCTGACTCCATTGCGGAGCAGATCCTGGCCACGCTCTTCCAGACCTGGATGGTGCCCGCTGTGCGTGTGGAC TTCTACAATGCAGACGAGCTCAAGTCTGAAGTTTCCTGGATCCCCAATAAACATTACTCTGGGATTTATGGTCTGATGAAGCTTGTCCTG ACCAAGACTCTTCCTGCCAACCTGGAGAGAGTCATCGTCCTTGACACGGATATCACCTTTGCCACTGACATTGCAGAGCTGTGGGCTGTG TTCCACAAGTTCAAAGGCAGAAGAAGAGTTCAACATAGAGAAAGGTCGGCTTGTGCAAACCCAAAGACTAAAGATTATGGAATATTATGA GAAGAAAGAGAAACAGATTGAGCAGCAGAAGAAAATTCAGATGTCCAATTTGATGAATCAAGCGAGACTCAAAGTCCTCAGAGCAAGAGA TGACCTTATCACAGGTTTGTACCAGTTGCTGGAGCCCCGAATGATTGTTCGTTGCAGGAAACAAGATTTCCCTCTGGTAAAGGCTGCAGT GCAGAAGGCAATTCCTATGTACAAAATTGCCACCAAAAACGATGTTGATGTCCAAATTGACCAGGAGTCCTACCTGCCTGAAGACATAGC TGGTGGAGTTGAGATCTATAATGGAGATCGTAAAATAAAGGTTTCCAACACCCTGGAAAGCCGGCTGGATCTCATAGCCCAGCAGATGAT GCCAGAAGTCCGGGGAGCCTTGTTTGGTGCAAATGCCAACAGGAAGTTTTTGGACTAAGCCTTCAGGAGGTGGAGCTCGTCGTCAGCTCT CCTGCTGTGATGTGGAAGCTTCTGATATTTGAAGAAACACGAATGTCTCTGTAGCTTCCTCTTCACTGCCCCAGTATTGCTCTGTATTTA TCAGCGATGCCCCTCTGTCACTCATGCCTTGCCTAATTGTTCACAATGGTGGAAAGCTTCATGTAATATGATCAGGACCCACCTCCAGTT CTTCTGAAAGTGTGACAGTGTCCAGCCGGTTCTGCAGCACTAGGGGAGGGGGCAGATGGTGGTTGCATGGGCTTCCTGGGTCTCCACTCT CCGTCTGGCCTAAAGGTGATGTATTTGGTGTTTGGCCCTGCAGTCCCCACTCTTGAGGCTTAAGGCGCATGTGGCACACCACTCCTTCCA GCAGTAGTCGCTTTACTGTTACCTGTTTAGGCCTAGAAGTTTTCCCTCATCTGTAAATGTGATTTAAAATCTAAGCCATGAATATGCTTT >44101_44101_2_LARGE-ATP6V1E1_LARGE_chr22_33960834_ENST00000337431_ATP6V1E1_chr22_18096086_ENST00000399796_length(amino acids)=296AA_BP=272 MGLGIATSERMLGICRGRRKFLAASLSLLCIPAITWIYLFSGSFEDGKPVSLSPLESQAHSPRYTASSQRERESLEVRMREVEEENRALR RQLSLAQGRAPSHRRGNHSKTYSMEEGTGDSENLRAGIVAGNSSECGQQPVVEKCETIHVAIVCAGYNASRDVVTLVKSVLFHRRNPLHF HLIADSIAEQILATLFQTWMVPAVRVDFYNADELKSEVSWIPNKHYSGIYGLMKLVLTKTLPANLERVIVLDTDITFATDIAELWAVFHK -------------------------------------------------------------- >44101_44101_3_LARGE-ATP6V1E1_LARGE_chr22_33960834_ENST00000337431_ATP6V1E1_chr22_18096086_ENST00000399798_length(transcript)=2123nt_BP=1276nt CGGCCCCGGCGGTCGCTCCCTGGACCCAACCCGAGGCTGACCCAGGCCCCTGCCCATGCGGGGCGCCCCTGGCTCGGAAGAGTCCCCCGG GCCGGGAGCAGCTCCAGGCAGCGGCCCCGGAGGAAGAGGAAGAAGGGACAGTGCTCAGCTTGGGGGACCCGGACCCTCGCCGCGGCATTT GGAGCCGGGGGCAGTCCCGAACTCTGTGCTTGGCACCGCCGCTCCGAGTAGGGCAGCGCCTGCCGGGACCCTGACCCGGACCCCCTGCGC CTCGTAGGCGGCGGCGCCGCCGCGCCACCCTGTTCTTCCGTGTCTCCCTCTGCCTGGCGGCAGTCACGGCCAAGAACCTACATTAAGAAA CGCATTCAGATGCATCAGCCGTTTGTAAAGCACCTGTCGTGAGCCAGAGAGTATTATGAGGGAGGCCGAGGACTTCATGCTCCGGACAGA GAAACGGCGCTGGGATTAGGGATTGCCACTTCTGAGAGGATGCTGGGAATCTGCAGGGGGAGACGGAAATTCTTGGCTGCCTCGTTGAGT CTTCTCTGCATCCCAGCCATCACCTGGATTTACCTGTTTTCTGGGAGCTTCGAAGATGGAAAGCCCGTGTCTCTGTCACCGCTGGAGTCC CAGGCACACAGCCCCAGGTACACGGCCTCCAGCCAGCGGGAGCGCGAGAGCCTGGAGGTGCGCATGCGCGAGGTGGAGGAGGAGAACCGC GCCCTCCGCAGGCAGCTCAGCCTGGCCCAGGGCCGAGCCCCATCCCATCGCCGAGGCAACCACTCCAAGACCTACTCCATGGAGGAGGGC ACTGGAGACAGCGAGAACCTTCGGGCTGGCATCGTGGCAGGCAACAGCTCCGAGTGTGGGCAGCAGCCGGTCGTGGAGAAATGCGAGACA ATCCACGTTGCTATTGTCTGCGCCGGATACAATGCCAGCCGGGATGTCGTCACCCTGGTCAAATCCGTCCTGTTCCATAGACGGAACCCT CTGCACTTCCACCTTATTGCTGACTCCATTGCGGAGCAGATCCTGGCCACGCTCTTCCAGACCTGGATGGTGCCCGCTGTGCGTGTGGAC TTCTACAATGCAGACGAGCTCAAGTCTGAAGTTTCCTGGATCCCCAATAAACATTACTCTGGGATTTATGGTCTGATGAAGCTTGTCCTG ACCAAGACTCTTCCTGCCAACCTGGAGAGAGTCATCGTCCTTGACACGGATATCACCTTTGCCACTGACATTGCAGAGCTGTGGGCTGTG TTCCACAAGTTCAAAGGCAGAAGAAGAGTTCAACATAGAGAAAGGTCGGCTTGTGCAAACCCAAAGACTAAAGATTATGGAATATTATGA GAAGAAAGAGAAACAGATTGAGCAGCAGAAGAAAATTCAGATGTCCAATTTGATGAATCAAGCGAGACTCAAAGTCCTCAGAGCAAGAGA TGACCTTATCACAGACCTACTAAATGAAGCAAAACAGAGACTCAGCAAGGTGGTAAAAGATACAACCAGGTACCAAGTGCTGCTGGATGG ACTGGTTCTCCAGGGTTTGTACCAGTTGCTGGAGCCCCGAATGATTGTTCGTTGCAGGAAACAAGATTTCCCTCTGGTAAAGGCTGCAGT GCAGAAGGCAATTCCTATGTACAAAATTGCCACCAAAAACGATGTTGATGTCCAAATTGACCAGGAGTCCTACCTGCCTGAAGACATAGC TGGTGGAGTTGAGATCTATAATGGAGATCGTAAAATAAAGGTTTCCAACACCCTGGAAAGCCGGCTGGATCTCATAGCCCAGCAGATGAT GCCAGAAGTCCGGGGAGCCTTGTTTGGTGCAAATGCCAACAGGAAGTTTTTGGACTAAGCCTTCAGGAGGTGGAGCTCGTCGTCAGCTCT CCTGCTGTGATGTGGAAGCTTCTGATATTTGAAGAAACACGAATGTCTCTGTAGCTTCCTCTTCACTGCCCCAGTATTGCTCTGTATTTA TCAGCGATGCCCCTCTGTCACTCATGCCTTGCCTAATTGTTCACAATGGTGGAAAGCTTCATGTAATATGATCAGGACCCACCTCCAGTT >44101_44101_3_LARGE-ATP6V1E1_LARGE_chr22_33960834_ENST00000337431_ATP6V1E1_chr22_18096086_ENST00000399798_length(amino acids)=296AA_BP=272 MGLGIATSERMLGICRGRRKFLAASLSLLCIPAITWIYLFSGSFEDGKPVSLSPLESQAHSPRYTASSQRERESLEVRMREVEEENRALR RQLSLAQGRAPSHRRGNHSKTYSMEEGTGDSENLRAGIVAGNSSECGQQPVVEKCETIHVAIVCAGYNASRDVVTLVKSVLFHRRNPLHF HLIADSIAEQILATLFQTWMVPAVRVDFYNADELKSEVSWIPNKHYSGIYGLMKLVLTKTLPANLERVIVLDTDITFATDIAELWAVFHK -------------------------------------------------------------- >44101_44101_4_LARGE-ATP6V1E1_LARGE_chr22_33960834_ENST00000354992_ATP6V1E1_chr22_18096086_ENST00000253413_length(transcript)=2479nt_BP=1359nt CGGCCGCGCTCGTCTCGCCGGGCTGTTCGCGGGCAGGCCCTGCCCTGAAGGGACGAATCGGCTTGGAGCGCGGGAGGTGGAGTCGGCCCC GGCGGTCGCTCCCTGGACCCAACCCGAGGCTGACCCAGGCCCCTGCCCATGCGGGGCGCCCCTGGCTCGGAAGAGTCCCCCGGGCCGGGA GCAGCTCCAGGCAGCGGCCCCGGAGGAAGAGGAAGAAGGGACAGTGCTCAGCTTGGGGGACCCGGACCCTCGCCGCGGCATTTGGAGCCG GGGGCAGTCCCGAACTCTGTGCTTGGCACCGCCGCTCCGAGTAGGGCAGCGCCTGCCGGGACCCTGACCCGGACCCCCTGCGCCTCGTAG GCGGCGGCGCCGCCGCGCCACCCTGTTCTTCCGTGTCTCCCTCTGCCTGGCGGCAGTCACGGCCAAGAACCTACATTAAGAAACGCATTC AGATGCATCAGCCGTTTGTAAAGCACCTGTCGTGAGCCAGAGAGTATTATGAGGGAGGCCGAGGACTTCATGCTCCGGACAGAGAAACGG CGCTGGGATTAGGGATTGCCACTTCTGAGAGGATGCTGGGAATCTGCAGGGGGAGACGGAAATTCTTGGCTGCCTCGTTGAGTCTTCTCT GCATCCCAGCCATCACCTGGATTTACCTGTTTTCTGGGAGCTTCGAAGATGGAAAGCCCGTGTCTCTGTCACCGCTGGAGTCCCAGGCAC ACAGCCCCAGGTACACGGCCTCCAGCCAGCGGGAGCGCGAGAGCCTGGAGGTGCGCATGCGCGAGGTGGAGGAGGAGAACCGCGCCCTCC GCAGGCAGCTCAGCCTGGCCCAGGGCCGAGCCCCATCCCATCGCCGAGGCAACCACTCCAAGACCTACTCCATGGAGGAGGGCACTGGAG ACAGCGAGAACCTTCGGGCTGGCATCGTGGCAGGCAACAGCTCCGAGTGTGGGCAGCAGCCGGTCGTGGAGAAATGCGAGACAATCCACG TTGCTATTGTCTGCGCCGGATACAATGCCAGCCGGGATGTCGTCACCCTGGTCAAATCCGTCCTGTTCCATAGACGGAACCCTCTGCACT TCCACCTTATTGCTGACTCCATTGCGGAGCAGATCCTGGCCACGCTCTTCCAGACCTGGATGGTGCCCGCTGTGCGTGTGGACTTCTACA ATGCAGACGAGCTCAAGTCTGAAGTTTCCTGGATCCCCAATAAACATTACTCTGGGATTTATGGTCTGATGAAGCTTGTCCTGACCAAGA CTCTTCCTGCCAACCTGGAGAGAGTCATCGTCCTTGACACGGATATCACCTTTGCCACTGACATTGCAGAGCTGTGGGCTGTGTTCCACA AGTTCAAAGGCAGAAGAAGAGTTCAACATAGAGAAAGGTCGGCTTGTGCAAACCCAAAGACTAAAGATTATGGAATATTATGAGAAGAAA GAGAAACAGATTGAGCAGCAGAAGAAAATTCAGATGTCCAATTTGATGAATCAAGCGAGACTCAAAGTCCTCAGAGCAAGAGATGACCTT ATCACAGACCTACTAAATGAAGCAAAACAGAGACTCAGCAAGGTGGTAAAAGATACAACCAGGTACCAAGTGCTGCTGGATGGACTGGTT CTCCAGGGTTTGTACCAGTTGCTGGAGCCCCGAATGATTGTTCGTTGCAGGAAACAAGATTTCCCTCTGGTAAAGGCTGCAGTGCAGAAG GCAATTCCTATGTACAAAATTGCCACCAAAAACGATGTTGATGTCCAAATTGACCAGGAGTCCTACCTGCCTGAAGACATAGCTGGTGGA GTTGAGATCTATAATGGAGATCGTAAAATAAAGGTTTCCAACACCCTGGAAAGCCGGCTGGATCTCATAGCCCAGCAGATGATGCCAGAA GTCCGGGGAGCCTTGTTTGGTGCAAATGCCAACAGGAAGTTTTTGGACTAAGCCTTCAGGAGGTGGAGCTCGTCGTCAGCTCTCCTGCTG TGATGTGGAAGCTTCTGATATTTGAAGAAACACGAATGTCTCTGTAGCTTCCTCTTCACTGCCCCAGTATTGCTCTGTATTTATCAGCGA TGCCCCTCTGTCACTCATGCCTTGCCTAATTGTTCACAATGGTGGAAAGCTTCATGTAATATGATCAGGACCCACCTCCAGTTCTTCTGA AAGTGTGACAGTGTCCAGCCGGTTCTGCAGCACTAGGGGAGGGGGCAGATGGTGGTTGCATGGGCTTCCTGGGTCTCCACTCTCCGTCTG GCCTAAAGGTGATGTATTTGGTGTTTGGCCCTGCAGTCCCCACTCTTGAGGCTTAAGGCGCATGTGGCACACCACTCCTTCCAGCAGTAG TCGCTTTACTGTTACCTGTTTAGGCCTAGAAGTTTTCCCTCATCTGTAAATGTGATTTAAAATCTAAGCCATGAATATGCTTTATTTATT >44101_44101_4_LARGE-ATP6V1E1_LARGE_chr22_33960834_ENST00000354992_ATP6V1E1_chr22_18096086_ENST00000253413_length(amino acids)=296AA_BP=272 MGLGIATSERMLGICRGRRKFLAASLSLLCIPAITWIYLFSGSFEDGKPVSLSPLESQAHSPRYTASSQRERESLEVRMREVEEENRALR RQLSLAQGRAPSHRRGNHSKTYSMEEGTGDSENLRAGIVAGNSSECGQQPVVEKCETIHVAIVCAGYNASRDVVTLVKSVLFHRRNPLHF HLIADSIAEQILATLFQTWMVPAVRVDFYNADELKSEVSWIPNKHYSGIYGLMKLVLTKTLPANLERVIVLDTDITFATDIAELWAVFHK -------------------------------------------------------------- >44101_44101_5_LARGE-ATP6V1E1_LARGE_chr22_33960834_ENST00000354992_ATP6V1E1_chr22_18096086_ENST00000399796_length(transcript)=2356nt_BP=1359nt CGGCCGCGCTCGTCTCGCCGGGCTGTTCGCGGGCAGGCCCTGCCCTGAAGGGACGAATCGGCTTGGAGCGCGGGAGGTGGAGTCGGCCCC GGCGGTCGCTCCCTGGACCCAACCCGAGGCTGACCCAGGCCCCTGCCCATGCGGGGCGCCCCTGGCTCGGAAGAGTCCCCCGGGCCGGGA GCAGCTCCAGGCAGCGGCCCCGGAGGAAGAGGAAGAAGGGACAGTGCTCAGCTTGGGGGACCCGGACCCTCGCCGCGGCATTTGGAGCCG GGGGCAGTCCCGAACTCTGTGCTTGGCACCGCCGCTCCGAGTAGGGCAGCGCCTGCCGGGACCCTGACCCGGACCCCCTGCGCCTCGTAG GCGGCGGCGCCGCCGCGCCACCCTGTTCTTCCGTGTCTCCCTCTGCCTGGCGGCAGTCACGGCCAAGAACCTACATTAAGAAACGCATTC AGATGCATCAGCCGTTTGTAAAGCACCTGTCGTGAGCCAGAGAGTATTATGAGGGAGGCCGAGGACTTCATGCTCCGGACAGAGAAACGG CGCTGGGATTAGGGATTGCCACTTCTGAGAGGATGCTGGGAATCTGCAGGGGGAGACGGAAATTCTTGGCTGCCTCGTTGAGTCTTCTCT GCATCCCAGCCATCACCTGGATTTACCTGTTTTCTGGGAGCTTCGAAGATGGAAAGCCCGTGTCTCTGTCACCGCTGGAGTCCCAGGCAC ACAGCCCCAGGTACACGGCCTCCAGCCAGCGGGAGCGCGAGAGCCTGGAGGTGCGCATGCGCGAGGTGGAGGAGGAGAACCGCGCCCTCC GCAGGCAGCTCAGCCTGGCCCAGGGCCGAGCCCCATCCCATCGCCGAGGCAACCACTCCAAGACCTACTCCATGGAGGAGGGCACTGGAG ACAGCGAGAACCTTCGGGCTGGCATCGTGGCAGGCAACAGCTCCGAGTGTGGGCAGCAGCCGGTCGTGGAGAAATGCGAGACAATCCACG TTGCTATTGTCTGCGCCGGATACAATGCCAGCCGGGATGTCGTCACCCTGGTCAAATCCGTCCTGTTCCATAGACGGAACCCTCTGCACT TCCACCTTATTGCTGACTCCATTGCGGAGCAGATCCTGGCCACGCTCTTCCAGACCTGGATGGTGCCCGCTGTGCGTGTGGACTTCTACA ATGCAGACGAGCTCAAGTCTGAAGTTTCCTGGATCCCCAATAAACATTACTCTGGGATTTATGGTCTGATGAAGCTTGTCCTGACCAAGA CTCTTCCTGCCAACCTGGAGAGAGTCATCGTCCTTGACACGGATATCACCTTTGCCACTGACATTGCAGAGCTGTGGGCTGTGTTCCACA AGTTCAAAGGCAGAAGAAGAGTTCAACATAGAGAAAGGTCGGCTTGTGCAAACCCAAAGACTAAAGATTATGGAATATTATGAGAAGAAA GAGAAACAGATTGAGCAGCAGAAGAAAATTCAGATGTCCAATTTGATGAATCAAGCGAGACTCAAAGTCCTCAGAGCAAGAGATGACCTT ATCACAGGTTTGTACCAGTTGCTGGAGCCCCGAATGATTGTTCGTTGCAGGAAACAAGATTTCCCTCTGGTAAAGGCTGCAGTGCAGAAG GCAATTCCTATGTACAAAATTGCCACCAAAAACGATGTTGATGTCCAAATTGACCAGGAGTCCTACCTGCCTGAAGACATAGCTGGTGGA GTTGAGATCTATAATGGAGATCGTAAAATAAAGGTTTCCAACACCCTGGAAAGCCGGCTGGATCTCATAGCCCAGCAGATGATGCCAGAA GTCCGGGGAGCCTTGTTTGGTGCAAATGCCAACAGGAAGTTTTTGGACTAAGCCTTCAGGAGGTGGAGCTCGTCGTCAGCTCTCCTGCTG TGATGTGGAAGCTTCTGATATTTGAAGAAACACGAATGTCTCTGTAGCTTCCTCTTCACTGCCCCAGTATTGCTCTGTATTTATCAGCGA TGCCCCTCTGTCACTCATGCCTTGCCTAATTGTTCACAATGGTGGAAAGCTTCATGTAATATGATCAGGACCCACCTCCAGTTCTTCTGA AAGTGTGACAGTGTCCAGCCGGTTCTGCAGCACTAGGGGAGGGGGCAGATGGTGGTTGCATGGGCTTCCTGGGTCTCCACTCTCCGTCTG GCCTAAAGGTGATGTATTTGGTGTTTGGCCCTGCAGTCCCCACTCTTGAGGCTTAAGGCGCATGTGGCACACCACTCCTTCCAGCAGTAG TCGCTTTACTGTTACCTGTTTAGGCCTAGAAGTTTTCCCTCATCTGTAAATGTGATTTAAAATCTAAGCCATGAATATGCTTTATTTATT >44101_44101_5_LARGE-ATP6V1E1_LARGE_chr22_33960834_ENST00000354992_ATP6V1E1_chr22_18096086_ENST00000399796_length(amino acids)=296AA_BP=272 MGLGIATSERMLGICRGRRKFLAASLSLLCIPAITWIYLFSGSFEDGKPVSLSPLESQAHSPRYTASSQRERESLEVRMREVEEENRALR RQLSLAQGRAPSHRRGNHSKTYSMEEGTGDSENLRAGIVAGNSSECGQQPVVEKCETIHVAIVCAGYNASRDVVTLVKSVLFHRRNPLHF HLIADSIAEQILATLFQTWMVPAVRVDFYNADELKSEVSWIPNKHYSGIYGLMKLVLTKTLPANLERVIVLDTDITFATDIAELWAVFHK -------------------------------------------------------------- >44101_44101_6_LARGE-ATP6V1E1_LARGE_chr22_33960834_ENST00000354992_ATP6V1E1_chr22_18096086_ENST00000399798_length(transcript)=2206nt_BP=1359nt CGGCCGCGCTCGTCTCGCCGGGCTGTTCGCGGGCAGGCCCTGCCCTGAAGGGACGAATCGGCTTGGAGCGCGGGAGGTGGAGTCGGCCCC GGCGGTCGCTCCCTGGACCCAACCCGAGGCTGACCCAGGCCCCTGCCCATGCGGGGCGCCCCTGGCTCGGAAGAGTCCCCCGGGCCGGGA GCAGCTCCAGGCAGCGGCCCCGGAGGAAGAGGAAGAAGGGACAGTGCTCAGCTTGGGGGACCCGGACCCTCGCCGCGGCATTTGGAGCCG GGGGCAGTCCCGAACTCTGTGCTTGGCACCGCCGCTCCGAGTAGGGCAGCGCCTGCCGGGACCCTGACCCGGACCCCCTGCGCCTCGTAG GCGGCGGCGCCGCCGCGCCACCCTGTTCTTCCGTGTCTCCCTCTGCCTGGCGGCAGTCACGGCCAAGAACCTACATTAAGAAACGCATTC AGATGCATCAGCCGTTTGTAAAGCACCTGTCGTGAGCCAGAGAGTATTATGAGGGAGGCCGAGGACTTCATGCTCCGGACAGAGAAACGG CGCTGGGATTAGGGATTGCCACTTCTGAGAGGATGCTGGGAATCTGCAGGGGGAGACGGAAATTCTTGGCTGCCTCGTTGAGTCTTCTCT GCATCCCAGCCATCACCTGGATTTACCTGTTTTCTGGGAGCTTCGAAGATGGAAAGCCCGTGTCTCTGTCACCGCTGGAGTCCCAGGCAC ACAGCCCCAGGTACACGGCCTCCAGCCAGCGGGAGCGCGAGAGCCTGGAGGTGCGCATGCGCGAGGTGGAGGAGGAGAACCGCGCCCTCC GCAGGCAGCTCAGCCTGGCCCAGGGCCGAGCCCCATCCCATCGCCGAGGCAACCACTCCAAGACCTACTCCATGGAGGAGGGCACTGGAG ACAGCGAGAACCTTCGGGCTGGCATCGTGGCAGGCAACAGCTCCGAGTGTGGGCAGCAGCCGGTCGTGGAGAAATGCGAGACAATCCACG TTGCTATTGTCTGCGCCGGATACAATGCCAGCCGGGATGTCGTCACCCTGGTCAAATCCGTCCTGTTCCATAGACGGAACCCTCTGCACT TCCACCTTATTGCTGACTCCATTGCGGAGCAGATCCTGGCCACGCTCTTCCAGACCTGGATGGTGCCCGCTGTGCGTGTGGACTTCTACA ATGCAGACGAGCTCAAGTCTGAAGTTTCCTGGATCCCCAATAAACATTACTCTGGGATTTATGGTCTGATGAAGCTTGTCCTGACCAAGA CTCTTCCTGCCAACCTGGAGAGAGTCATCGTCCTTGACACGGATATCACCTTTGCCACTGACATTGCAGAGCTGTGGGCTGTGTTCCACA AGTTCAAAGGCAGAAGAAGAGTTCAACATAGAGAAAGGTCGGCTTGTGCAAACCCAAAGACTAAAGATTATGGAATATTATGAGAAGAAA GAGAAACAGATTGAGCAGCAGAAGAAAATTCAGATGTCCAATTTGATGAATCAAGCGAGACTCAAAGTCCTCAGAGCAAGAGATGACCTT ATCACAGACCTACTAAATGAAGCAAAACAGAGACTCAGCAAGGTGGTAAAAGATACAACCAGGTACCAAGTGCTGCTGGATGGACTGGTT CTCCAGGGTTTGTACCAGTTGCTGGAGCCCCGAATGATTGTTCGTTGCAGGAAACAAGATTTCCCTCTGGTAAAGGCTGCAGTGCAGAAG GCAATTCCTATGTACAAAATTGCCACCAAAAACGATGTTGATGTCCAAATTGACCAGGAGTCCTACCTGCCTGAAGACATAGCTGGTGGA GTTGAGATCTATAATGGAGATCGTAAAATAAAGGTTTCCAACACCCTGGAAAGCCGGCTGGATCTCATAGCCCAGCAGATGATGCCAGAA GTCCGGGGAGCCTTGTTTGGTGCAAATGCCAACAGGAAGTTTTTGGACTAAGCCTTCAGGAGGTGGAGCTCGTCGTCAGCTCTCCTGCTG TGATGTGGAAGCTTCTGATATTTGAAGAAACACGAATGTCTCTGTAGCTTCCTCTTCACTGCCCCAGTATTGCTCTGTATTTATCAGCGA TGCCCCTCTGTCACTCATGCCTTGCCTAATTGTTCACAATGGTGGAAAGCTTCATGTAATATGATCAGGACCCACCTCCAGTTCTTCTGA >44101_44101_6_LARGE-ATP6V1E1_LARGE_chr22_33960834_ENST00000354992_ATP6V1E1_chr22_18096086_ENST00000399798_length(amino acids)=296AA_BP=272 MGLGIATSERMLGICRGRRKFLAASLSLLCIPAITWIYLFSGSFEDGKPVSLSPLESQAHSPRYTASSQRERESLEVRMREVEEENRALR RQLSLAQGRAPSHRRGNHSKTYSMEEGTGDSENLRAGIVAGNSSECGQQPVVEKCETIHVAIVCAGYNASRDVVTLVKSVLFHRRNPLHF HLIADSIAEQILATLFQTWMVPAVRVDFYNADELKSEVSWIPNKHYSGIYGLMKLVLTKTLPANLERVIVLDTDITFATDIAELWAVFHK -------------------------------------------------------------- >44101_44101_7_LARGE-ATP6V1E1_LARGE_chr22_33960834_ENST00000397394_ATP6V1E1_chr22_18096086_ENST00000253413_length(transcript)=2423nt_BP=1303nt GGGGGCGCGGCCGCGCTCGTCTCGCCGGGCTGTTCGCGGGCAGGCCCTGCCCTGAAGGGACGAATCGGCTTGGAGCGCGGGAGGTGGAGT CGGCCCCGGCGGTCGCTCCCTGGACCCAACCCGAGGCTGACCCAGGCCCCTGCCCATGCGGGGCGCCCCTGGCTCGGAAGAGTCCCCCGG GCCGGGAGCAGCTCCAGGCAGCGGCCCCGGAGGAAGAGGAAGAAGGGACAGTGCTCAGCTTGGGGGACCCGGACCCTCGCCGCGGCATTT GGAGCCGGGGGCAGTCCCGAACTCTGTGCTTGGCACCGCCGCTCCGAGTAGGGCAGCGCCTGCCGGGACCCTGACCCGGACCCCCTGCGC CTCGTAGGCGGCGGCGCCGCCGCGCCACCCTGTTCTTCCGTGTCTCCCTCTGCCTGGCGGCAGTCACGGCCAAGAGAGTATTATGAGGGA GGCCGAGGACTTCATGCTCCGGACAGAGAAACGGCGCTGGGATTAGGGATTGCCACTTCTGAGAGGATGCTGGGAATCTGCAGGGGGAGA CGGAAATTCTTGGCTGCCTCGTTGAGTCTTCTCTGCATCCCAGCCATCACCTGGATTTACCTGTTTTCTGGGAGCTTCGAAGATGGAAAG CCCGTGTCTCTGTCACCGCTGGAGTCCCAGGCACACAGCCCCAGGTACACGGCCTCCAGCCAGCGGGAGCGCGAGAGCCTGGAGGTGCGC ATGCGCGAGGTGGAGGAGGAGAACCGCGCCCTCCGCAGGCAGCTCAGCCTGGCCCAGGGCCGAGCCCCATCCCATCGCCGAGGCAACCAC TCCAAGACCTACTCCATGGAGGAGGGCACTGGAGACAGCGAGAACCTTCGGGCTGGCATCGTGGCAGGCAACAGCTCCGAGTGTGGGCAG CAGCCGGTCGTGGAGAAATGCGAGACAATCCACGTTGCTATTGTCTGCGCCGGATACAATGCCAGCCGGGATGTCGTCACCCTGGTCAAA TCCGTCCTGTTCCATAGACGGAACCCTCTGCACTTCCACCTTATTGCTGACTCCATTGCGGAGCAGATCCTGGCCACGCTCTTCCAGACC TGGATGGTGCCCGCTGTGCGTGTGGACTTCTACAATGCAGACGAGCTCAAGTCTGAAGTTTCCTGGATCCCCAATAAACATTACTCTGGG ATTTATGGTCTGATGAAGCTTGTCCTGACCAAGACTCTTCCTGCCAACCTGGAGAGAGTCATCGTCCTTGACACGGATATCACCTTTGCC ACTGACATTGCAGAGCTGTGGGCTGTGTTCCACAAGTTCAAAGGCAGAAGAAGAGTTCAACATAGAGAAAGGTCGGCTTGTGCAAACCCA AAGACTAAAGATTATGGAATATTATGAGAAGAAAGAGAAACAGATTGAGCAGCAGAAGAAAATTCAGATGTCCAATTTGATGAATCAAGC GAGACTCAAAGTCCTCAGAGCAAGAGATGACCTTATCACAGACCTACTAAATGAAGCAAAACAGAGACTCAGCAAGGTGGTAAAAGATAC AACCAGGTACCAAGTGCTGCTGGATGGACTGGTTCTCCAGGGTTTGTACCAGTTGCTGGAGCCCCGAATGATTGTTCGTTGCAGGAAACA AGATTTCCCTCTGGTAAAGGCTGCAGTGCAGAAGGCAATTCCTATGTACAAAATTGCCACCAAAAACGATGTTGATGTCCAAATTGACCA GGAGTCCTACCTGCCTGAAGACATAGCTGGTGGAGTTGAGATCTATAATGGAGATCGTAAAATAAAGGTTTCCAACACCCTGGAAAGCCG GCTGGATCTCATAGCCCAGCAGATGATGCCAGAAGTCCGGGGAGCCTTGTTTGGTGCAAATGCCAACAGGAAGTTTTTGGACTAAGCCTT CAGGAGGTGGAGCTCGTCGTCAGCTCTCCTGCTGTGATGTGGAAGCTTCTGATATTTGAAGAAACACGAATGTCTCTGTAGCTTCCTCTT CACTGCCCCAGTATTGCTCTGTATTTATCAGCGATGCCCCTCTGTCACTCATGCCTTGCCTAATTGTTCACAATGGTGGAAAGCTTCATG TAATATGATCAGGACCCACCTCCAGTTCTTCTGAAAGTGTGACAGTGTCCAGCCGGTTCTGCAGCACTAGGGGAGGGGGCAGATGGTGGT TGCATGGGCTTCCTGGGTCTCCACTCTCCGTCTGGCCTAAAGGTGATGTATTTGGTGTTTGGCCCTGCAGTCCCCACTCTTGAGGCTTAA GGCGCATGTGGCACACCACTCCTTCCAGCAGTAGTCGCTTTACTGTTACCTGTTTAGGCCTAGAAGTTTTCCCTCATCTGTAAATGTGAT >44101_44101_7_LARGE-ATP6V1E1_LARGE_chr22_33960834_ENST00000397394_ATP6V1E1_chr22_18096086_ENST00000253413_length(amino acids)=340AA_BP=316 MRLVGGGAAAPPCSSVSPSAWRQSRPREYYEGGRGLHAPDRETALGLGIATSERMLGICRGRRKFLAASLSLLCIPAITWIYLFSGSFED GKPVSLSPLESQAHSPRYTASSQRERESLEVRMREVEEENRALRRQLSLAQGRAPSHRRGNHSKTYSMEEGTGDSENLRAGIVAGNSSEC GQQPVVEKCETIHVAIVCAGYNASRDVVTLVKSVLFHRRNPLHFHLIADSIAEQILATLFQTWMVPAVRVDFYNADELKSEVSWIPNKHY -------------------------------------------------------------- >44101_44101_8_LARGE-ATP6V1E1_LARGE_chr22_33960834_ENST00000397394_ATP6V1E1_chr22_18096086_ENST00000399796_length(transcript)=2300nt_BP=1303nt GGGGGCGCGGCCGCGCTCGTCTCGCCGGGCTGTTCGCGGGCAGGCCCTGCCCTGAAGGGACGAATCGGCTTGGAGCGCGGGAGGTGGAGT CGGCCCCGGCGGTCGCTCCCTGGACCCAACCCGAGGCTGACCCAGGCCCCTGCCCATGCGGGGCGCCCCTGGCTCGGAAGAGTCCCCCGG GCCGGGAGCAGCTCCAGGCAGCGGCCCCGGAGGAAGAGGAAGAAGGGACAGTGCTCAGCTTGGGGGACCCGGACCCTCGCCGCGGCATTT GGAGCCGGGGGCAGTCCCGAACTCTGTGCTTGGCACCGCCGCTCCGAGTAGGGCAGCGCCTGCCGGGACCCTGACCCGGACCCCCTGCGC CTCGTAGGCGGCGGCGCCGCCGCGCCACCCTGTTCTTCCGTGTCTCCCTCTGCCTGGCGGCAGTCACGGCCAAGAGAGTATTATGAGGGA GGCCGAGGACTTCATGCTCCGGACAGAGAAACGGCGCTGGGATTAGGGATTGCCACTTCTGAGAGGATGCTGGGAATCTGCAGGGGGAGA CGGAAATTCTTGGCTGCCTCGTTGAGTCTTCTCTGCATCCCAGCCATCACCTGGATTTACCTGTTTTCTGGGAGCTTCGAAGATGGAAAG CCCGTGTCTCTGTCACCGCTGGAGTCCCAGGCACACAGCCCCAGGTACACGGCCTCCAGCCAGCGGGAGCGCGAGAGCCTGGAGGTGCGC ATGCGCGAGGTGGAGGAGGAGAACCGCGCCCTCCGCAGGCAGCTCAGCCTGGCCCAGGGCCGAGCCCCATCCCATCGCCGAGGCAACCAC TCCAAGACCTACTCCATGGAGGAGGGCACTGGAGACAGCGAGAACCTTCGGGCTGGCATCGTGGCAGGCAACAGCTCCGAGTGTGGGCAG CAGCCGGTCGTGGAGAAATGCGAGACAATCCACGTTGCTATTGTCTGCGCCGGATACAATGCCAGCCGGGATGTCGTCACCCTGGTCAAA TCCGTCCTGTTCCATAGACGGAACCCTCTGCACTTCCACCTTATTGCTGACTCCATTGCGGAGCAGATCCTGGCCACGCTCTTCCAGACC TGGATGGTGCCCGCTGTGCGTGTGGACTTCTACAATGCAGACGAGCTCAAGTCTGAAGTTTCCTGGATCCCCAATAAACATTACTCTGGG ATTTATGGTCTGATGAAGCTTGTCCTGACCAAGACTCTTCCTGCCAACCTGGAGAGAGTCATCGTCCTTGACACGGATATCACCTTTGCC ACTGACATTGCAGAGCTGTGGGCTGTGTTCCACAAGTTCAAAGGCAGAAGAAGAGTTCAACATAGAGAAAGGTCGGCTTGTGCAAACCCA AAGACTAAAGATTATGGAATATTATGAGAAGAAAGAGAAACAGATTGAGCAGCAGAAGAAAATTCAGATGTCCAATTTGATGAATCAAGC GAGACTCAAAGTCCTCAGAGCAAGAGATGACCTTATCACAGGTTTGTACCAGTTGCTGGAGCCCCGAATGATTGTTCGTTGCAGGAAACA AGATTTCCCTCTGGTAAAGGCTGCAGTGCAGAAGGCAATTCCTATGTACAAAATTGCCACCAAAAACGATGTTGATGTCCAAATTGACCA GGAGTCCTACCTGCCTGAAGACATAGCTGGTGGAGTTGAGATCTATAATGGAGATCGTAAAATAAAGGTTTCCAACACCCTGGAAAGCCG GCTGGATCTCATAGCCCAGCAGATGATGCCAGAAGTCCGGGGAGCCTTGTTTGGTGCAAATGCCAACAGGAAGTTTTTGGACTAAGCCTT CAGGAGGTGGAGCTCGTCGTCAGCTCTCCTGCTGTGATGTGGAAGCTTCTGATATTTGAAGAAACACGAATGTCTCTGTAGCTTCCTCTT CACTGCCCCAGTATTGCTCTGTATTTATCAGCGATGCCCCTCTGTCACTCATGCCTTGCCTAATTGTTCACAATGGTGGAAAGCTTCATG TAATATGATCAGGACCCACCTCCAGTTCTTCTGAAAGTGTGACAGTGTCCAGCCGGTTCTGCAGCACTAGGGGAGGGGGCAGATGGTGGT TGCATGGGCTTCCTGGGTCTCCACTCTCCGTCTGGCCTAAAGGTGATGTATTTGGTGTTTGGCCCTGCAGTCCCCACTCTTGAGGCTTAA GGCGCATGTGGCACACCACTCCTTCCAGCAGTAGTCGCTTTACTGTTACCTGTTTAGGCCTAGAAGTTTTCCCTCATCTGTAAATGTGAT >44101_44101_8_LARGE-ATP6V1E1_LARGE_chr22_33960834_ENST00000397394_ATP6V1E1_chr22_18096086_ENST00000399796_length(amino acids)=340AA_BP=316 MRLVGGGAAAPPCSSVSPSAWRQSRPREYYEGGRGLHAPDRETALGLGIATSERMLGICRGRRKFLAASLSLLCIPAITWIYLFSGSFED GKPVSLSPLESQAHSPRYTASSQRERESLEVRMREVEEENRALRRQLSLAQGRAPSHRRGNHSKTYSMEEGTGDSENLRAGIVAGNSSEC GQQPVVEKCETIHVAIVCAGYNASRDVVTLVKSVLFHRRNPLHFHLIADSIAEQILATLFQTWMVPAVRVDFYNADELKSEVSWIPNKHY -------------------------------------------------------------- >44101_44101_9_LARGE-ATP6V1E1_LARGE_chr22_33960834_ENST00000397394_ATP6V1E1_chr22_18096086_ENST00000399798_length(transcript)=2150nt_BP=1303nt GGGGGCGCGGCCGCGCTCGTCTCGCCGGGCTGTTCGCGGGCAGGCCCTGCCCTGAAGGGACGAATCGGCTTGGAGCGCGGGAGGTGGAGT CGGCCCCGGCGGTCGCTCCCTGGACCCAACCCGAGGCTGACCCAGGCCCCTGCCCATGCGGGGCGCCCCTGGCTCGGAAGAGTCCCCCGG GCCGGGAGCAGCTCCAGGCAGCGGCCCCGGAGGAAGAGGAAGAAGGGACAGTGCTCAGCTTGGGGGACCCGGACCCTCGCCGCGGCATTT GGAGCCGGGGGCAGTCCCGAACTCTGTGCTTGGCACCGCCGCTCCGAGTAGGGCAGCGCCTGCCGGGACCCTGACCCGGACCCCCTGCGC CTCGTAGGCGGCGGCGCCGCCGCGCCACCCTGTTCTTCCGTGTCTCCCTCTGCCTGGCGGCAGTCACGGCCAAGAGAGTATTATGAGGGA GGCCGAGGACTTCATGCTCCGGACAGAGAAACGGCGCTGGGATTAGGGATTGCCACTTCTGAGAGGATGCTGGGAATCTGCAGGGGGAGA CGGAAATTCTTGGCTGCCTCGTTGAGTCTTCTCTGCATCCCAGCCATCACCTGGATTTACCTGTTTTCTGGGAGCTTCGAAGATGGAAAG CCCGTGTCTCTGTCACCGCTGGAGTCCCAGGCACACAGCCCCAGGTACACGGCCTCCAGCCAGCGGGAGCGCGAGAGCCTGGAGGTGCGC ATGCGCGAGGTGGAGGAGGAGAACCGCGCCCTCCGCAGGCAGCTCAGCCTGGCCCAGGGCCGAGCCCCATCCCATCGCCGAGGCAACCAC TCCAAGACCTACTCCATGGAGGAGGGCACTGGAGACAGCGAGAACCTTCGGGCTGGCATCGTGGCAGGCAACAGCTCCGAGTGTGGGCAG CAGCCGGTCGTGGAGAAATGCGAGACAATCCACGTTGCTATTGTCTGCGCCGGATACAATGCCAGCCGGGATGTCGTCACCCTGGTCAAA TCCGTCCTGTTCCATAGACGGAACCCTCTGCACTTCCACCTTATTGCTGACTCCATTGCGGAGCAGATCCTGGCCACGCTCTTCCAGACC TGGATGGTGCCCGCTGTGCGTGTGGACTTCTACAATGCAGACGAGCTCAAGTCTGAAGTTTCCTGGATCCCCAATAAACATTACTCTGGG ATTTATGGTCTGATGAAGCTTGTCCTGACCAAGACTCTTCCTGCCAACCTGGAGAGAGTCATCGTCCTTGACACGGATATCACCTTTGCC ACTGACATTGCAGAGCTGTGGGCTGTGTTCCACAAGTTCAAAGGCAGAAGAAGAGTTCAACATAGAGAAAGGTCGGCTTGTGCAAACCCA AAGACTAAAGATTATGGAATATTATGAGAAGAAAGAGAAACAGATTGAGCAGCAGAAGAAAATTCAGATGTCCAATTTGATGAATCAAGC GAGACTCAAAGTCCTCAGAGCAAGAGATGACCTTATCACAGACCTACTAAATGAAGCAAAACAGAGACTCAGCAAGGTGGTAAAAGATAC AACCAGGTACCAAGTGCTGCTGGATGGACTGGTTCTCCAGGGTTTGTACCAGTTGCTGGAGCCCCGAATGATTGTTCGTTGCAGGAAACA AGATTTCCCTCTGGTAAAGGCTGCAGTGCAGAAGGCAATTCCTATGTACAAAATTGCCACCAAAAACGATGTTGATGTCCAAATTGACCA GGAGTCCTACCTGCCTGAAGACATAGCTGGTGGAGTTGAGATCTATAATGGAGATCGTAAAATAAAGGTTTCCAACACCCTGGAAAGCCG GCTGGATCTCATAGCCCAGCAGATGATGCCAGAAGTCCGGGGAGCCTTGTTTGGTGCAAATGCCAACAGGAAGTTTTTGGACTAAGCCTT CAGGAGGTGGAGCTCGTCGTCAGCTCTCCTGCTGTGATGTGGAAGCTTCTGATATTTGAAGAAACACGAATGTCTCTGTAGCTTCCTCTT CACTGCCCCAGTATTGCTCTGTATTTATCAGCGATGCCCCTCTGTCACTCATGCCTTGCCTAATTGTTCACAATGGTGGAAAGCTTCATG >44101_44101_9_LARGE-ATP6V1E1_LARGE_chr22_33960834_ENST00000397394_ATP6V1E1_chr22_18096086_ENST00000399798_length(amino acids)=340AA_BP=316 MRLVGGGAAAPPCSSVSPSAWRQSRPREYYEGGRGLHAPDRETALGLGIATSERMLGICRGRRKFLAASLSLLCIPAITWIYLFSGSFED GKPVSLSPLESQAHSPRYTASSQRERESLEVRMREVEEENRALRRQLSLAQGRAPSHRRGNHSKTYSMEEGTGDSENLRAGIVAGNSSEC GQQPVVEKCETIHVAIVCAGYNASRDVVTLVKSVLFHRRNPLHFHLIADSIAEQILATLFQTWMVPAVRVDFYNADELKSEVSWIPNKHY -------------------------------------------------------------- >44101_44101_10_LARGE-ATP6V1E1_LARGE_chr22_33960834_ENST00000402320_ATP6V1E1_chr22_18096086_ENST00000253413_length(transcript)=2409nt_BP=1289nt GCTCGTCTCGCCGGGCTGTTCGCGGGCAGGCCCTGCCCTGAAGGGACGAATCGGCTTGGAGCGCGGGAGGTGGAGTCGGCCCCGGCGGTC GCTCCCTGGACCCAACCCGAGGCTGACCCAGGCCCCTGCCCATGCGGGGCGCCCCTGGCTCGGAAGAGTCCCCCGGGCCGGGAGCAGCTC CAGGCAGCGGCCCCGGAGGAAGAGGAAGAAGGGACAGTGCTCAGCTTGGGGGACCCGGACCCTCGCCGCGGCATTTGGAGCCGGGGGCAG TCCCGAACTCTGTGCTTGGCACCGCCGCTCCGAGTAGGGCAGCGCCTGCCGGGACCCTGACCCGGACCCCCTGCGCCTCGTAGGCGGCGG CGCCGCCGCGCCACCCTGTTCTTCCGTGTCTCCCTCTGCCTGGCGGCAGTCACGGCCAAGAGAGTATTATGAGGGAGGCCGAGGACTTCA TGCTCCGGACAGAGAAACGGCGCTGGGATTAGGGATTGCCACTTCTGAGAGGATGCTGGGAATCTGCAGGGGGAGACGGAAATTCTTGGC TGCCTCGTTGAGTCTTCTCTGCATCCCAGCCATCACCTGGATTTACCTGTTTTCTGGGAGCTTCGAAGATGGAAAGCCCGTGTCTCTGTC ACCGCTGGAGTCCCAGGCACACAGCCCCAGGTACACGGCCTCCAGCCAGCGGGAGCGCGAGAGCCTGGAGGTGCGCATGCGCGAGGTGGA GGAGGAGAACCGCGCCCTCCGCAGGCAGCTCAGCCTGGCCCAGGGCCGAGCCCCATCCCATCGCCGAGGCAACCACTCCAAGACCTACTC CATGGAGGAGGGCACTGGAGACAGCGAGAACCTTCGGGCTGGCATCGTGGCAGGCAACAGCTCCGAGTGTGGGCAGCAGCCGGTCGTGGA GAAATGCGAGACAATCCACGTTGCTATTGTCTGCGCCGGATACAATGCCAGCCGGGATGTCGTCACCCTGGTCAAATCCGTCCTGTTCCA TAGACGGAACCCTCTGCACTTCCACCTTATTGCTGACTCCATTGCGGAGCAGATCCTGGCCACGCTCTTCCAGACCTGGATGGTGCCCGC TGTGCGTGTGGACTTCTACAATGCAGACGAGCTCAAGTCTGAAGTTTCCTGGATCCCCAATAAACATTACTCTGGGATTTATGGTCTGAT GAAGCTTGTCCTGACCAAGACTCTTCCTGCCAACCTGGAGAGAGTCATCGTCCTTGACACGGATATCACCTTTGCCACTGACATTGCAGA GCTGTGGGCTGTGTTCCACAAGTTCAAAGGCAGAAGAAGAGTTCAACATAGAGAAAGGTCGGCTTGTGCAAACCCAAAGACTAAAGATTA TGGAATATTATGAGAAGAAAGAGAAACAGATTGAGCAGCAGAAGAAAATTCAGATGTCCAATTTGATGAATCAAGCGAGACTCAAAGTCC TCAGAGCAAGAGATGACCTTATCACAGACCTACTAAATGAAGCAAAACAGAGACTCAGCAAGGTGGTAAAAGATACAACCAGGTACCAAG TGCTGCTGGATGGACTGGTTCTCCAGGGTTTGTACCAGTTGCTGGAGCCCCGAATGATTGTTCGTTGCAGGAAACAAGATTTCCCTCTGG TAAAGGCTGCAGTGCAGAAGGCAATTCCTATGTACAAAATTGCCACCAAAAACGATGTTGATGTCCAAATTGACCAGGAGTCCTACCTGC CTGAAGACATAGCTGGTGGAGTTGAGATCTATAATGGAGATCGTAAAATAAAGGTTTCCAACACCCTGGAAAGCCGGCTGGATCTCATAG CCCAGCAGATGATGCCAGAAGTCCGGGGAGCCTTGTTTGGTGCAAATGCCAACAGGAAGTTTTTGGACTAAGCCTTCAGGAGGTGGAGCT CGTCGTCAGCTCTCCTGCTGTGATGTGGAAGCTTCTGATATTTGAAGAAACACGAATGTCTCTGTAGCTTCCTCTTCACTGCCCCAGTAT TGCTCTGTATTTATCAGCGATGCCCCTCTGTCACTCATGCCTTGCCTAATTGTTCACAATGGTGGAAAGCTTCATGTAATATGATCAGGA CCCACCTCCAGTTCTTCTGAAAGTGTGACAGTGTCCAGCCGGTTCTGCAGCACTAGGGGAGGGGGCAGATGGTGGTTGCATGGGCTTCCT GGGTCTCCACTCTCCGTCTGGCCTAAAGGTGATGTATTTGGTGTTTGGCCCTGCAGTCCCCACTCTTGAGGCTTAAGGCGCATGTGGCAC ACCACTCCTTCCAGCAGTAGTCGCTTTACTGTTACCTGTTTAGGCCTAGAAGTTTTCCCTCATCTGTAAATGTGATTTAAAATCTAAGCC >44101_44101_10_LARGE-ATP6V1E1_LARGE_chr22_33960834_ENST00000402320_ATP6V1E1_chr22_18096086_ENST00000253413_length(amino acids)=340AA_BP=316 MRLVGGGAAAPPCSSVSPSAWRQSRPREYYEGGRGLHAPDRETALGLGIATSERMLGICRGRRKFLAASLSLLCIPAITWIYLFSGSFED GKPVSLSPLESQAHSPRYTASSQRERESLEVRMREVEEENRALRRQLSLAQGRAPSHRRGNHSKTYSMEEGTGDSENLRAGIVAGNSSEC GQQPVVEKCETIHVAIVCAGYNASRDVVTLVKSVLFHRRNPLHFHLIADSIAEQILATLFQTWMVPAVRVDFYNADELKSEVSWIPNKHY -------------------------------------------------------------- >44101_44101_11_LARGE-ATP6V1E1_LARGE_chr22_33960834_ENST00000402320_ATP6V1E1_chr22_18096086_ENST00000399796_length(transcript)=2286nt_BP=1289nt GCTCGTCTCGCCGGGCTGTTCGCGGGCAGGCCCTGCCCTGAAGGGACGAATCGGCTTGGAGCGCGGGAGGTGGAGTCGGCCCCGGCGGTC GCTCCCTGGACCCAACCCGAGGCTGACCCAGGCCCCTGCCCATGCGGGGCGCCCCTGGCTCGGAAGAGTCCCCCGGGCCGGGAGCAGCTC CAGGCAGCGGCCCCGGAGGAAGAGGAAGAAGGGACAGTGCTCAGCTTGGGGGACCCGGACCCTCGCCGCGGCATTTGGAGCCGGGGGCAG TCCCGAACTCTGTGCTTGGCACCGCCGCTCCGAGTAGGGCAGCGCCTGCCGGGACCCTGACCCGGACCCCCTGCGCCTCGTAGGCGGCGG CGCCGCCGCGCCACCCTGTTCTTCCGTGTCTCCCTCTGCCTGGCGGCAGTCACGGCCAAGAGAGTATTATGAGGGAGGCCGAGGACTTCA TGCTCCGGACAGAGAAACGGCGCTGGGATTAGGGATTGCCACTTCTGAGAGGATGCTGGGAATCTGCAGGGGGAGACGGAAATTCTTGGC TGCCTCGTTGAGTCTTCTCTGCATCCCAGCCATCACCTGGATTTACCTGTTTTCTGGGAGCTTCGAAGATGGAAAGCCCGTGTCTCTGTC ACCGCTGGAGTCCCAGGCACACAGCCCCAGGTACACGGCCTCCAGCCAGCGGGAGCGCGAGAGCCTGGAGGTGCGCATGCGCGAGGTGGA GGAGGAGAACCGCGCCCTCCGCAGGCAGCTCAGCCTGGCCCAGGGCCGAGCCCCATCCCATCGCCGAGGCAACCACTCCAAGACCTACTC CATGGAGGAGGGCACTGGAGACAGCGAGAACCTTCGGGCTGGCATCGTGGCAGGCAACAGCTCCGAGTGTGGGCAGCAGCCGGTCGTGGA GAAATGCGAGACAATCCACGTTGCTATTGTCTGCGCCGGATACAATGCCAGCCGGGATGTCGTCACCCTGGTCAAATCCGTCCTGTTCCA TAGACGGAACCCTCTGCACTTCCACCTTATTGCTGACTCCATTGCGGAGCAGATCCTGGCCACGCTCTTCCAGACCTGGATGGTGCCCGC TGTGCGTGTGGACTTCTACAATGCAGACGAGCTCAAGTCTGAAGTTTCCTGGATCCCCAATAAACATTACTCTGGGATTTATGGTCTGAT GAAGCTTGTCCTGACCAAGACTCTTCCTGCCAACCTGGAGAGAGTCATCGTCCTTGACACGGATATCACCTTTGCCACTGACATTGCAGA GCTGTGGGCTGTGTTCCACAAGTTCAAAGGCAGAAGAAGAGTTCAACATAGAGAAAGGTCGGCTTGTGCAAACCCAAAGACTAAAGATTA TGGAATATTATGAGAAGAAAGAGAAACAGATTGAGCAGCAGAAGAAAATTCAGATGTCCAATTTGATGAATCAAGCGAGACTCAAAGTCC TCAGAGCAAGAGATGACCTTATCACAGGTTTGTACCAGTTGCTGGAGCCCCGAATGATTGTTCGTTGCAGGAAACAAGATTTCCCTCTGG TAAAGGCTGCAGTGCAGAAGGCAATTCCTATGTACAAAATTGCCACCAAAAACGATGTTGATGTCCAAATTGACCAGGAGTCCTACCTGC CTGAAGACATAGCTGGTGGAGTTGAGATCTATAATGGAGATCGTAAAATAAAGGTTTCCAACACCCTGGAAAGCCGGCTGGATCTCATAG CCCAGCAGATGATGCCAGAAGTCCGGGGAGCCTTGTTTGGTGCAAATGCCAACAGGAAGTTTTTGGACTAAGCCTTCAGGAGGTGGAGCT CGTCGTCAGCTCTCCTGCTGTGATGTGGAAGCTTCTGATATTTGAAGAAACACGAATGTCTCTGTAGCTTCCTCTTCACTGCCCCAGTAT TGCTCTGTATTTATCAGCGATGCCCCTCTGTCACTCATGCCTTGCCTAATTGTTCACAATGGTGGAAAGCTTCATGTAATATGATCAGGA CCCACCTCCAGTTCTTCTGAAAGTGTGACAGTGTCCAGCCGGTTCTGCAGCACTAGGGGAGGGGGCAGATGGTGGTTGCATGGGCTTCCT GGGTCTCCACTCTCCGTCTGGCCTAAAGGTGATGTATTTGGTGTTTGGCCCTGCAGTCCCCACTCTTGAGGCTTAAGGCGCATGTGGCAC ACCACTCCTTCCAGCAGTAGTCGCTTTACTGTTACCTGTTTAGGCCTAGAAGTTTTCCCTCATCTGTAAATGTGATTTAAAATCTAAGCC >44101_44101_11_LARGE-ATP6V1E1_LARGE_chr22_33960834_ENST00000402320_ATP6V1E1_chr22_18096086_ENST00000399796_length(amino acids)=340AA_BP=316 MRLVGGGAAAPPCSSVSPSAWRQSRPREYYEGGRGLHAPDRETALGLGIATSERMLGICRGRRKFLAASLSLLCIPAITWIYLFSGSFED GKPVSLSPLESQAHSPRYTASSQRERESLEVRMREVEEENRALRRQLSLAQGRAPSHRRGNHSKTYSMEEGTGDSENLRAGIVAGNSSEC GQQPVVEKCETIHVAIVCAGYNASRDVVTLVKSVLFHRRNPLHFHLIADSIAEQILATLFQTWMVPAVRVDFYNADELKSEVSWIPNKHY -------------------------------------------------------------- >44101_44101_12_LARGE-ATP6V1E1_LARGE_chr22_33960834_ENST00000402320_ATP6V1E1_chr22_18096086_ENST00000399798_length(transcript)=2136nt_BP=1289nt GCTCGTCTCGCCGGGCTGTTCGCGGGCAGGCCCTGCCCTGAAGGGACGAATCGGCTTGGAGCGCGGGAGGTGGAGTCGGCCCCGGCGGTC GCTCCCTGGACCCAACCCGAGGCTGACCCAGGCCCCTGCCCATGCGGGGCGCCCCTGGCTCGGAAGAGTCCCCCGGGCCGGGAGCAGCTC CAGGCAGCGGCCCCGGAGGAAGAGGAAGAAGGGACAGTGCTCAGCTTGGGGGACCCGGACCCTCGCCGCGGCATTTGGAGCCGGGGGCAG TCCCGAACTCTGTGCTTGGCACCGCCGCTCCGAGTAGGGCAGCGCCTGCCGGGACCCTGACCCGGACCCCCTGCGCCTCGTAGGCGGCGG CGCCGCCGCGCCACCCTGTTCTTCCGTGTCTCCCTCTGCCTGGCGGCAGTCACGGCCAAGAGAGTATTATGAGGGAGGCCGAGGACTTCA TGCTCCGGACAGAGAAACGGCGCTGGGATTAGGGATTGCCACTTCTGAGAGGATGCTGGGAATCTGCAGGGGGAGACGGAAATTCTTGGC TGCCTCGTTGAGTCTTCTCTGCATCCCAGCCATCACCTGGATTTACCTGTTTTCTGGGAGCTTCGAAGATGGAAAGCCCGTGTCTCTGTC ACCGCTGGAGTCCCAGGCACACAGCCCCAGGTACACGGCCTCCAGCCAGCGGGAGCGCGAGAGCCTGGAGGTGCGCATGCGCGAGGTGGA GGAGGAGAACCGCGCCCTCCGCAGGCAGCTCAGCCTGGCCCAGGGCCGAGCCCCATCCCATCGCCGAGGCAACCACTCCAAGACCTACTC CATGGAGGAGGGCACTGGAGACAGCGAGAACCTTCGGGCTGGCATCGTGGCAGGCAACAGCTCCGAGTGTGGGCAGCAGCCGGTCGTGGA GAAATGCGAGACAATCCACGTTGCTATTGTCTGCGCCGGATACAATGCCAGCCGGGATGTCGTCACCCTGGTCAAATCCGTCCTGTTCCA TAGACGGAACCCTCTGCACTTCCACCTTATTGCTGACTCCATTGCGGAGCAGATCCTGGCCACGCTCTTCCAGACCTGGATGGTGCCCGC TGTGCGTGTGGACTTCTACAATGCAGACGAGCTCAAGTCTGAAGTTTCCTGGATCCCCAATAAACATTACTCTGGGATTTATGGTCTGAT GAAGCTTGTCCTGACCAAGACTCTTCCTGCCAACCTGGAGAGAGTCATCGTCCTTGACACGGATATCACCTTTGCCACTGACATTGCAGA GCTGTGGGCTGTGTTCCACAAGTTCAAAGGCAGAAGAAGAGTTCAACATAGAGAAAGGTCGGCTTGTGCAAACCCAAAGACTAAAGATTA TGGAATATTATGAGAAGAAAGAGAAACAGATTGAGCAGCAGAAGAAAATTCAGATGTCCAATTTGATGAATCAAGCGAGACTCAAAGTCC TCAGAGCAAGAGATGACCTTATCACAGACCTACTAAATGAAGCAAAACAGAGACTCAGCAAGGTGGTAAAAGATACAACCAGGTACCAAG TGCTGCTGGATGGACTGGTTCTCCAGGGTTTGTACCAGTTGCTGGAGCCCCGAATGATTGTTCGTTGCAGGAAACAAGATTTCCCTCTGG TAAAGGCTGCAGTGCAGAAGGCAATTCCTATGTACAAAATTGCCACCAAAAACGATGTTGATGTCCAAATTGACCAGGAGTCCTACCTGC CTGAAGACATAGCTGGTGGAGTTGAGATCTATAATGGAGATCGTAAAATAAAGGTTTCCAACACCCTGGAAAGCCGGCTGGATCTCATAG CCCAGCAGATGATGCCAGAAGTCCGGGGAGCCTTGTTTGGTGCAAATGCCAACAGGAAGTTTTTGGACTAAGCCTTCAGGAGGTGGAGCT CGTCGTCAGCTCTCCTGCTGTGATGTGGAAGCTTCTGATATTTGAAGAAACACGAATGTCTCTGTAGCTTCCTCTTCACTGCCCCAGTAT TGCTCTGTATTTATCAGCGATGCCCCTCTGTCACTCATGCCTTGCCTAATTGTTCACAATGGTGGAAAGCTTCATGTAATATGATCAGGA >44101_44101_12_LARGE-ATP6V1E1_LARGE_chr22_33960834_ENST00000402320_ATP6V1E1_chr22_18096086_ENST00000399798_length(amino acids)=340AA_BP=316 MRLVGGGAAAPPCSSVSPSAWRQSRPREYYEGGRGLHAPDRETALGLGIATSERMLGICRGRRKFLAASLSLLCIPAITWIYLFSGSFED GKPVSLSPLESQAHSPRYTASSQRERESLEVRMREVEEENRALRRQLSLAQGRAPSHRRGNHSKTYSMEEGTGDSENLRAGIVAGNSSEC GQQPVVEKCETIHVAIVCAGYNASRDVVTLVKSVLFHRRNPLHFHLIADSIAEQILATLFQTWMVPAVRVDFYNADELKSEVSWIPNKHY -------------------------------------------------------------- |
Top |
Fusion Gene PPI Analysis for LARGE-ATP6V1E1 |
| 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 |
Top |
Related Drugs for LARGE-ATP6V1E1 |
| 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 |
Top |
Related Diseases for LARGE-ATP6V1E1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2021-Present -The University of Texas Health Science Center at Houston (UTHealth)
Web File Viewing | Emergency Information |Campus Carry|Site Policies