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Fusion Protein:CAPN1-GTF2IRD1 |
Fusion Protein Summary |
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Fusion partner gene information | Fusion gene name: CAPN1-GTF2IRD1 | FusionPDB ID: 12861 | FusionGDB2.0 ID: 12861 | Hgene | Tgene | Gene symbol | CAPN1 | GTF2IRD1 | Gene ID | 823 | 9569 |
Gene name | calpain 1 | GTF2I repeat domain containing 1 | |
Synonyms | CANP|CANP1|CANPL1|SPG76|muCANP|muCL | BEN|CREAM1|GTF3|MUSTRD1|RBAP2|WBS|WBSCR11|WBSCR12|hMusTRD1alpha1 | |
Cytomap | 11q13.1 | 7q11.23 | |
Type of gene | protein-coding | protein-coding | |
Description | calpain-1 catalytic subunitCANP 1calcium-activated neutral proteinase 1calpain 1, (mu/I) large subunitcalpain mu-typecalpain, large polypeptide L1calpain-1 large subunitcell proliferation-inducing gene 30 proteincell proliferation-inducing protein | general transcription factor II-I repeat domain-containing protein 1USE B1-binding proteinWilliams-Beuren syndrome chromosome region 11binding factor for early enhancergeneral transcription factor 3general transcription factor IIImuscle TFII-I repea | |
Modification date | 20200322 | 20200313 | |
UniProtAcc | O75808 | Q9UHL9 | |
Ensembl transtripts involved in fusion gene | ENST ids | ENST00000279247, ENST00000524773, ENST00000527323, ENST00000533129, ENST00000533820, ENST00000527469, | ENST00000489094, ENST00000265755, ENST00000424337, ENST00000455841, ENST00000476977, |
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 13 X 11 X 8=1144 | 12 X 10 X 9=1080 |
# samples | 13 | 12 | |
** MAII score | log2(13/1144*10)=-3.13750352374993 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(12/1080*10)=-3.16992500144231 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context (manual curation of fusion genes in FusionPDB) | PubMed: CAPN1 [Title/Abstract] AND GTF2IRD1 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | CAPN1(64973192)-GTF2IRD1(73927160), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. | CAPN1-GTF2IRD1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. CAPN1-GTF2IRD1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. CAPN1-GTF2IRD1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. CAPN1-GTF2IRD1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. |
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | CAPN1 | GO:0006508 | proteolysis | 2400579|2407243|16411745|21531719 |
Hgene | CAPN1 | GO:0050790 | regulation of catalytic activity | 8954105|9271093 |
Hgene | CAPN1 | GO:0097264 | self proteolysis | 8769305|8954105 |
![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Fusion Gene Sample Information |
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![]() * All genome coordinats were lifted-over on hg19. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChimerDB4 | ESCA | TCGA-L5-A4OQ-01A | CAPN1 | chr11 | 64973192 | - | GTF2IRD1 | chr7 | 73927160 | + |
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Fusion ORF Analysis |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
ENST00000533820 | CAPN1 | chr11 | 64973192 | - | ENST00000265755 | GTF2IRD1 | chr7 | 73927160 | + | 4485 | 1571 | 167 | 4327 | 1386 |
ENST00000533820 | CAPN1 | chr11 | 64973192 | - | ENST00000455841 | GTF2IRD1 | chr7 | 73927160 | + | 4550 | 1571 | 167 | 4378 | 1403 |
ENST00000533820 | CAPN1 | chr11 | 64973192 | - | ENST00000424337 | GTF2IRD1 | chr7 | 73927160 | + | 4451 | 1571 | 167 | 4282 | 1371 |
ENST00000533820 | CAPN1 | chr11 | 64973192 | - | ENST00000476977 | GTF2IRD1 | chr7 | 73927160 | + | 5625 | 1571 | 167 | 4330 | 1387 |
ENST00000533129 | CAPN1 | chr11 | 64973192 | - | ENST00000265755 | GTF2IRD1 | chr7 | 73927160 | + | 4342 | 1428 | 75 | 4184 | 1369 |
ENST00000533129 | CAPN1 | chr11 | 64973192 | - | ENST00000455841 | GTF2IRD1 | chr7 | 73927160 | + | 4407 | 1428 | 75 | 4235 | 1386 |
ENST00000533129 | CAPN1 | chr11 | 64973192 | - | ENST00000424337 | GTF2IRD1 | chr7 | 73927160 | + | 4308 | 1428 | 75 | 4139 | 1354 |
ENST00000533129 | CAPN1 | chr11 | 64973192 | - | ENST00000476977 | GTF2IRD1 | chr7 | 73927160 | + | 5482 | 1428 | 75 | 4187 | 1370 |
ENST00000524773 | CAPN1 | chr11 | 64973192 | - | ENST00000265755 | GTF2IRD1 | chr7 | 73927160 | + | 4367 | 1453 | 100 | 4209 | 1369 |
ENST00000524773 | CAPN1 | chr11 | 64973192 | - | ENST00000455841 | GTF2IRD1 | chr7 | 73927160 | + | 4432 | 1453 | 100 | 4260 | 1386 |
ENST00000524773 | CAPN1 | chr11 | 64973192 | - | ENST00000424337 | GTF2IRD1 | chr7 | 73927160 | + | 4333 | 1453 | 100 | 4164 | 1354 |
ENST00000524773 | CAPN1 | chr11 | 64973192 | - | ENST00000476977 | GTF2IRD1 | chr7 | 73927160 | + | 5507 | 1453 | 100 | 4212 | 1370 |
ENST00000279247 | CAPN1 | chr11 | 64973192 | - | ENST00000265755 | GTF2IRD1 | chr7 | 73927160 | + | 4410 | 1496 | 143 | 4252 | 1369 |
ENST00000279247 | CAPN1 | chr11 | 64973192 | - | ENST00000455841 | GTF2IRD1 | chr7 | 73927160 | + | 4475 | 1496 | 143 | 4303 | 1386 |
ENST00000279247 | CAPN1 | chr11 | 64973192 | - | ENST00000424337 | GTF2IRD1 | chr7 | 73927160 | + | 4376 | 1496 | 143 | 4207 | 1354 |
ENST00000279247 | CAPN1 | chr11 | 64973192 | - | ENST00000476977 | GTF2IRD1 | chr7 | 73927160 | + | 5550 | 1496 | 143 | 4255 | 1370 |
ENST00000527323 | CAPN1 | chr11 | 64973192 | - | ENST00000265755 | GTF2IRD1 | chr7 | 73927160 | + | 4507 | 1593 | 207 | 4349 | 1380 |
ENST00000527323 | CAPN1 | chr11 | 64973192 | - | ENST00000455841 | GTF2IRD1 | chr7 | 73927160 | + | 4572 | 1593 | 207 | 4400 | 1397 |
ENST00000527323 | CAPN1 | chr11 | 64973192 | - | ENST00000424337 | GTF2IRD1 | chr7 | 73927160 | + | 4473 | 1593 | 207 | 4304 | 1365 |
ENST00000527323 | CAPN1 | chr11 | 64973192 | - | ENST00000476977 | GTF2IRD1 | chr7 | 73927160 | + | 5647 | 1593 | 207 | 4352 | 1381 |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
ENST00000533820 | ENST00000265755 | CAPN1 | chr11 | 64973192 | - | GTF2IRD1 | chr7 | 73927160 | + | 0.003750878 | 0.99624914 |
ENST00000533820 | ENST00000455841 | CAPN1 | chr11 | 64973192 | - | GTF2IRD1 | chr7 | 73927160 | + | 0.003321611 | 0.99667835 |
ENST00000533820 | ENST00000424337 | CAPN1 | chr11 | 64973192 | - | GTF2IRD1 | chr7 | 73927160 | + | 0.003215207 | 0.9967848 |
ENST00000533820 | ENST00000476977 | CAPN1 | chr11 | 64973192 | - | GTF2IRD1 | chr7 | 73927160 | + | 0.003625848 | 0.9963741 |
ENST00000533129 | ENST00000265755 | CAPN1 | chr11 | 64973192 | - | GTF2IRD1 | chr7 | 73927160 | + | 0.003159968 | 0.99684 |
ENST00000533129 | ENST00000455841 | CAPN1 | chr11 | 64973192 | - | GTF2IRD1 | chr7 | 73927160 | + | 0.002782608 | 0.9972174 |
ENST00000533129 | ENST00000424337 | CAPN1 | chr11 | 64973192 | - | GTF2IRD1 | chr7 | 73927160 | + | 0.002697363 | 0.99730265 |
ENST00000533129 | ENST00000476977 | CAPN1 | chr11 | 64973192 | - | GTF2IRD1 | chr7 | 73927160 | + | 0.003066238 | 0.9969337 |
ENST00000524773 | ENST00000265755 | CAPN1 | chr11 | 64973192 | - | GTF2IRD1 | chr7 | 73927160 | + | 0.003148379 | 0.9968516 |
ENST00000524773 | ENST00000455841 | CAPN1 | chr11 | 64973192 | - | GTF2IRD1 | chr7 | 73927160 | + | 0.002779543 | 0.9972205 |
ENST00000524773 | ENST00000424337 | CAPN1 | chr11 | 64973192 | - | GTF2IRD1 | chr7 | 73927160 | + | 0.002691326 | 0.99730873 |
ENST00000524773 | ENST00000476977 | CAPN1 | chr11 | 64973192 | - | GTF2IRD1 | chr7 | 73927160 | + | 0.003071165 | 0.9969289 |
ENST00000279247 | ENST00000265755 | CAPN1 | chr11 | 64973192 | - | GTF2IRD1 | chr7 | 73927160 | + | 0.003371251 | 0.9966287 |
ENST00000279247 | ENST00000455841 | CAPN1 | chr11 | 64973192 | - | GTF2IRD1 | chr7 | 73927160 | + | 0.002980744 | 0.9970193 |
ENST00000279247 | ENST00000424337 | CAPN1 | chr11 | 64973192 | - | GTF2IRD1 | chr7 | 73927160 | + | 0.002886299 | 0.9971137 |
ENST00000279247 | ENST00000476977 | CAPN1 | chr11 | 64973192 | - | GTF2IRD1 | chr7 | 73927160 | + | 0.003281548 | 0.99671847 |
ENST00000527323 | ENST00000265755 | CAPN1 | chr11 | 64973192 | - | GTF2IRD1 | chr7 | 73927160 | + | 0.004133316 | 0.99586666 |
ENST00000527323 | ENST00000455841 | CAPN1 | chr11 | 64973192 | - | GTF2IRD1 | chr7 | 73927160 | + | 0.003665232 | 0.9963348 |
ENST00000527323 | ENST00000424337 | CAPN1 | chr11 | 64973192 | - | GTF2IRD1 | chr7 | 73927160 | + | 0.003555914 | 0.99644405 |
ENST00000527323 | ENST00000476977 | CAPN1 | chr11 | 64973192 | - | GTF2IRD1 | chr7 | 73927160 | + | 0.003931656 | 0.99606836 |
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Fusion Amino Acid Sequences |
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>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP >12861_12861_1_CAPN1-GTF2IRD1_CAPN1_chr11_64973192_ENST00000279247_GTF2IRD1_chr7_73927160_ENST00000265755_length(amino acids)=1369AA_BP=449 MSEEIITPVYCTGVSAQVQKQRARELGLGRHENAIKYLGQDYEQLRVRCLQSGTLFRDEAFPPVPQSLGYKDLGPNSSKTYGIKWKRPTE LLSNPQFIVDGATRTDICQGALGDCWLLAAIASLTLNDTLLHRVVPHGQSFQNGYAGIFHFQLWQFGEWVDVVVDDLLPIKDGKLVFVHS AEGNEFWSALLEKAYAKVNGSYEALSGGSTSEGFEDFTGGVTEWYELRKAPSDLYQIILKALERGSLLGCSIDISSVLDMEAITFKKLVK GHAYSVTGAKQVNYRGQVVSLIRMRNPWGEVEWTGAWSDSSSEWNNVDPYERDQLRVKMEDGEFWMSFRDFMREFTRLEICNLTPDALKS RTIRKWNTTLYEGTWRRGSTAGGCRNYPATFWVNPQFKIRLDETDDPDDYGDRESGCSFVLALMQKHRRRERRFGRDMETIGFAVYEVPP ECSALSKLNAEVACVAVHDESAFVVGTEKGRMFLNARKELQSDFLRFCRGPPWKDPEAEHPKKVQRGEGGGRSLPRSSLEHGSDVYLLRK MVEEVFDVLYSEALGRASVVPLPYERLLREPGLLAVQGLPEGLAFRRPAEYDPKALMAILEHSHRIRFKLKRPLEDGGRDSKALVELNGV SLIPKGSRDCGLHGQAPKVPPQDLPPTATSSSMASFLYSTALPNHAIRELKQEAPSCPLAPSDLGLSRPMPEPKATGAQDFSDCCGQKPT GPGGPLIQNVHASKRILFSIVHDKSEKWDAFIKETEDINTLRECVQILFNSRYAEALGLDHMVPVPYRKIACDPEAVEIVGIPDKIPFKR PCTYGVPKLKRILEERHSIHFIIKRMFDERIFTGNKFTKDTTKLEPASPPEDTSAEVSRATVLDLAGNARSDKGSMSEDCGPGTSGELGG LRPIKIEPEDLDIIQVTVPDPSPTSEEMTDSMPGHLPSEDSGYGMEMLTDKGLSEDARPEERPVEDSHGDVIRPLRKQVELLFNTRYAKA IGISEPVKVPYSKFLMHPEELFVVGLPEGISLRRPNCFGIAKLRKILEASNSIQFVIKRPELLTEGVKEPIMDSQGTASSLGFSPPALPP ERDSGDPLVDESLKRQGFQENYDARLSRIDIANTLREQVQDLFNKKYGEALGIKYPVQVPYKRIKSNPGSVIIEGLPPGIPFRKPCTFGS QNLERILAVADKIKFTVTRPFQGLIPKPDEDDANRLGEKVILREQVKELFNEKYGEALGLNRPVLVPYKLIRDSPDAVEVTGLPDDIPFR NPNTYDIHRLEKILKAREHVRMVIINQLQPFAEICNDAKVPAKDSSIPKRKRKRVSEGNSVSSSSSSSSSSSSNPDSVASANQISLVQWP -------------------------------------------------------------- >12861_12861_2_CAPN1-GTF2IRD1_CAPN1_chr11_64973192_ENST00000279247_GTF2IRD1_chr7_73927160_ENST00000424337_length(amino acids)=1354AA_BP=449 MSEEIITPVYCTGVSAQVQKQRARELGLGRHENAIKYLGQDYEQLRVRCLQSGTLFRDEAFPPVPQSLGYKDLGPNSSKTYGIKWKRPTE LLSNPQFIVDGATRTDICQGALGDCWLLAAIASLTLNDTLLHRVVPHGQSFQNGYAGIFHFQLWQFGEWVDVVVDDLLPIKDGKLVFVHS AEGNEFWSALLEKAYAKVNGSYEALSGGSTSEGFEDFTGGVTEWYELRKAPSDLYQIILKALERGSLLGCSIDISSVLDMEAITFKKLVK GHAYSVTGAKQVNYRGQVVSLIRMRNPWGEVEWTGAWSDSSSEWNNVDPYERDQLRVKMEDGEFWMSFRDFMREFTRLEICNLTPDALKS RTIRKWNTTLYEGTWRRGSTAGGCRNYPATFWVNPQFKIRLDETDDPDDYGDRESGCSFVLALMQKHRRRERRFGRDMETIGFAVYEVPP ECSALSKLNAEVACVAVHDESAFVVGTEKGRMFLNARKELQSDFLRFCRGPPWKDPEAEHPKKVQRGEGGGRSLPRSSLEHGSDVYLLRK MVEEVFDVLYSEALGRASVVPLPYERLLREPGLLAVQGLPEGLAFRRPAEYDPKALMAILEHSHRIRFKLKRPLEDGGRDSKALVELNGV SLIPKGSRDCGLHGQAPKVPPQDLPPTATSSSMASFLYSTALPNHAIRELKQEAPSCPLAPSDLGLSRPMPEPKATGAQDFSDCCGQKPT GPGGPLIQNVHASKRILFSIVHDKSEKWDAFIKETEDINTLRECVQILFNSRYAEALGLDHMVPVPYRKIACDPEAVEIVGIPDKIPFKR PCTYGVPKLKRILEERHSIHFIIKRMFDERIFTGNKFTKDTTKLEPASPPEDTSAEVSRATVLDLAGNARSDKGSMSEDCGPGTSGELGG LRPIKIEPEDLDIIQVTVPDPSPTSEEMTDSMPGHLPSEDSGYGMEMLTDKGLSEDARPEERPVEDSHGDVIRPLRKQVELLFNTRYAKA IGISEPVKVPYSKFLMHPEELFVVGLPEGISLRRPNCFGIAKLRKILEASNSIQFVIKRPELLTEGVKEPIMDSQERDSGDPLVDESLKR QGFQENYDARLSRIDIANTLREQVQDLFNKKYGEALGIKYPVQVPYKRIKSNPGSVIIEGLPPGIPFRKPCTFGSQNLERILAVADKIKF TVTRPFQGLIPKPDEDDANRLGEKVILREQVKELFNEKYGEALGLNRPVLVPYKLIRDSPDAVEVTGLPDDIPFRNPNTYDIHRLEKILK AREHVRMVIINQLQPFAEICNDAKVPAKDSSIPKRKRKRVSEGNSVSSSSSSSSSSSSNPDSVASANQISLVQWPMYMVDYAGLNVQLPG -------------------------------------------------------------- >12861_12861_3_CAPN1-GTF2IRD1_CAPN1_chr11_64973192_ENST00000279247_GTF2IRD1_chr7_73927160_ENST00000455841_length(amino acids)=1386AA_BP=449 MSEEIITPVYCTGVSAQVQKQRARELGLGRHENAIKYLGQDYEQLRVRCLQSGTLFRDEAFPPVPQSLGYKDLGPNSSKTYGIKWKRPTE LLSNPQFIVDGATRTDICQGALGDCWLLAAIASLTLNDTLLHRVVPHGQSFQNGYAGIFHFQLWQFGEWVDVVVDDLLPIKDGKLVFVHS AEGNEFWSALLEKAYAKVNGSYEALSGGSTSEGFEDFTGGVTEWYELRKAPSDLYQIILKALERGSLLGCSIDISSVLDMEAITFKKLVK GHAYSVTGAKQVNYRGQVVSLIRMRNPWGEVEWTGAWSDSSSEWNNVDPYERDQLRVKMEDGEFWMSFRDFMREFTRLEICNLTPDALKS RTIRKWNTTLYEGTWRRGSTAGGCRNYPATFWVNPQFKIRLDETDDPDDYGDRESGCSFVLALMQKHRRRERRFGRDMETIGFAVYEVPP ECSALSKLNAEVACVAVHDESAFVVGTEKGRMFLNARKELQSDFLRFCLSAAQHRAATSQLEGRVVRRVLTVASRALCPTGGPPWKDPEA EHPKKVQRGEGGGRSLPRSSLEHGSDVYLLRKMVEEVFDVLYSEALGRASVVPLPYERLLREPGLLAVQGLPEGLAFRRPAEYDPKALMA ILEHSHRIRFKLKRPLEDGGRDSKALVELNGVSLIPKGSRDCGLHGQAPKVPPQDLPPTATSSSMASFLYSTALPNHAIRELKQEAPSCP LAPSDLGLSRPMPEPKATGAQDFSDCCGQKPTGPGGPLIQNVHASKRILFSIVHDKSEKWDAFIKETEDINTLRECVQILFNSRYAEALG LDHMVPVPYRKIACDPEAVEIVGIPDKIPFKRPCTYGVPKLKRILEERHSIHFIIKRMFDERIFTGNKFTKDTTKLEPASPPEDTSAEVS RATVLDLAGNARSDKGSMSEDCGPGTSGELGGLRPIKIEPEDLDIIQVTVPDPSPTSEEMTDSMPGHLPSEDSGYGMEMLTDKGLSEDAR PEERPVEDSHGDVIRPLRKQVELLFNTRYAKAIGISEPVKVPYSKFLMHPEELFVVGLPEGISLRRPNCFGIAKLRKILEASNSIQFVIK RPELLTEGVKEPIMDSQERDSGDPLVDESLKRQGFQENYDARLSRIDIANTLREQVQDLFNKKYGEALGIKYPVQVPYKRIKSNPGSVII EGLPPGIPFRKPCTFGSQNLERILAVADKIKFTVTRPFQGLIPKPDEDDANRLGEKVILREQVKELFNEKYGEALGLNRPVLVPYKLIRD SPDAVEVTGLPDDIPFRNPNTYDIHRLEKILKAREHVRMVIINQLQPFAEICNDAKVPAKDSSIPKRKRKRVSEGNSVSSSSSSSSSSSS -------------------------------------------------------------- >12861_12861_4_CAPN1-GTF2IRD1_CAPN1_chr11_64973192_ENST00000279247_GTF2IRD1_chr7_73927160_ENST00000476977_length(amino acids)=1370AA_BP=449 MSEEIITPVYCTGVSAQVQKQRARELGLGRHENAIKYLGQDYEQLRVRCLQSGTLFRDEAFPPVPQSLGYKDLGPNSSKTYGIKWKRPTE LLSNPQFIVDGATRTDICQGALGDCWLLAAIASLTLNDTLLHRVVPHGQSFQNGYAGIFHFQLWQFGEWVDVVVDDLLPIKDGKLVFVHS AEGNEFWSALLEKAYAKVNGSYEALSGGSTSEGFEDFTGGVTEWYELRKAPSDLYQIILKALERGSLLGCSIDISSVLDMEAITFKKLVK GHAYSVTGAKQVNYRGQVVSLIRMRNPWGEVEWTGAWSDSSSEWNNVDPYERDQLRVKMEDGEFWMSFRDFMREFTRLEICNLTPDALKS RTIRKWNTTLYEGTWRRGSTAGGCRNYPATFWVNPQFKIRLDETDDPDDYGDRESGCSFVLALMQKHRRRERRFGRDMETIGFAVYEVPP ECSALSKLNAEVACVAVHDESAFVVGTEKGRMFLNARKELQSDFLRFCRGPPWKDPEAEHPKKVQRGEGGGRSLPRSSLEHGSDVYLLRK MVEEVFDVLYSEALGRASVVPLPYERLLREPGLLAVQGLPEGLAFRRPAEYDPKALMAILEHSHRIRFKLKRPLEDGGRDSKALVELNGV SLIPKGSRDCGLHGQAPKVPPQDLPPTATSSSMASFLYSTALPNHAIRELKQEAPSCPLAPSDLGLSRPMPEPKATGAQDFSDCCGQKPT GPGGPLIQNVHASKRILFSIVHDKSEKWDAFIKETEDINTLRECVQILFNSRYAEALGLDHMVPVPYRKIACDPEAVEIVGIPDKIPFKR PCTYGVPKLKRILEERHSIHFIIKRMFDERIFTGNKFTKDTTKLEPASPPEDTSAEVSRATVLDLAGNARSDKGSMSEDCGPGTSGELGG LRPIKIEPEDLDIIQVTVPDPSPTSEEMTDSMPGHLPSEDSGYGMEMLTDKGLSEDARPEERPVEDSHGDVIRPLRKQVELLFNTRYAKA IGISEPVKVPYSKFLMHPEELFVVGLPEGISLRRPNCFGIAKLRKILEASNSIQFVIKRPELLTEGVKEPIMDSQERDSGDPLVDESLKR QGFQENYDARLSRIDIANTLREQVQDLFNKKYGEALGIKYPVQVPYKRIKSNPGSVIIEGLPPGIPFRKPCTFGSQNLERILAVADKIKF TVTRPFQGLIPKPDEDDANRLGEKVILREQVKELFNEKYGEALGLNRPVLVPYKLIRDSPDAVEVTGLPDDIPFRNPNTYDIHRLEKILK AREHVRMVIINQLQPFAEICNDAKVPAKDSSIPKRKRKRVSEGNSVSSSSSSSSSSSSNPDSVASANQISLVVKLHRFGLRHSSLWPSPL -------------------------------------------------------------- >12861_12861_5_CAPN1-GTF2IRD1_CAPN1_chr11_64973192_ENST00000524773_GTF2IRD1_chr7_73927160_ENST00000265755_length(amino acids)=1369AA_BP=449 MSEEIITPVYCTGVSAQVQKQRARELGLGRHENAIKYLGQDYEQLRVRCLQSGTLFRDEAFPPVPQSLGYKDLGPNSSKTYGIKWKRPTE LLSNPQFIVDGATRTDICQGALGDCWLLAAIASLTLNDTLLHRVVPHGQSFQNGYAGIFHFQLWQFGEWVDVVVDDLLPIKDGKLVFVHS AEGNEFWSALLEKAYAKVNGSYEALSGGSTSEGFEDFTGGVTEWYELRKAPSDLYQIILKALERGSLLGCSIDISSVLDMEAITFKKLVK GHAYSVTGAKQVNYRGQVVSLIRMRNPWGEVEWTGAWSDSSSEWNNVDPYERDQLRVKMEDGEFWMSFRDFMREFTRLEICNLTPDALKS RTIRKWNTTLYEGTWRRGSTAGGCRNYPATFWVNPQFKIRLDETDDPDDYGDRESGCSFVLALMQKHRRRERRFGRDMETIGFAVYEVPP ECSALSKLNAEVACVAVHDESAFVVGTEKGRMFLNARKELQSDFLRFCRGPPWKDPEAEHPKKVQRGEGGGRSLPRSSLEHGSDVYLLRK MVEEVFDVLYSEALGRASVVPLPYERLLREPGLLAVQGLPEGLAFRRPAEYDPKALMAILEHSHRIRFKLKRPLEDGGRDSKALVELNGV SLIPKGSRDCGLHGQAPKVPPQDLPPTATSSSMASFLYSTALPNHAIRELKQEAPSCPLAPSDLGLSRPMPEPKATGAQDFSDCCGQKPT GPGGPLIQNVHASKRILFSIVHDKSEKWDAFIKETEDINTLRECVQILFNSRYAEALGLDHMVPVPYRKIACDPEAVEIVGIPDKIPFKR PCTYGVPKLKRILEERHSIHFIIKRMFDERIFTGNKFTKDTTKLEPASPPEDTSAEVSRATVLDLAGNARSDKGSMSEDCGPGTSGELGG LRPIKIEPEDLDIIQVTVPDPSPTSEEMTDSMPGHLPSEDSGYGMEMLTDKGLSEDARPEERPVEDSHGDVIRPLRKQVELLFNTRYAKA IGISEPVKVPYSKFLMHPEELFVVGLPEGISLRRPNCFGIAKLRKILEASNSIQFVIKRPELLTEGVKEPIMDSQGTASSLGFSPPALPP ERDSGDPLVDESLKRQGFQENYDARLSRIDIANTLREQVQDLFNKKYGEALGIKYPVQVPYKRIKSNPGSVIIEGLPPGIPFRKPCTFGS QNLERILAVADKIKFTVTRPFQGLIPKPDEDDANRLGEKVILREQVKELFNEKYGEALGLNRPVLVPYKLIRDSPDAVEVTGLPDDIPFR NPNTYDIHRLEKILKAREHVRMVIINQLQPFAEICNDAKVPAKDSSIPKRKRKRVSEGNSVSSSSSSSSSSSSNPDSVASANQISLVQWP -------------------------------------------------------------- >12861_12861_6_CAPN1-GTF2IRD1_CAPN1_chr11_64973192_ENST00000524773_GTF2IRD1_chr7_73927160_ENST00000424337_length(amino acids)=1354AA_BP=449 MSEEIITPVYCTGVSAQVQKQRARELGLGRHENAIKYLGQDYEQLRVRCLQSGTLFRDEAFPPVPQSLGYKDLGPNSSKTYGIKWKRPTE LLSNPQFIVDGATRTDICQGALGDCWLLAAIASLTLNDTLLHRVVPHGQSFQNGYAGIFHFQLWQFGEWVDVVVDDLLPIKDGKLVFVHS AEGNEFWSALLEKAYAKVNGSYEALSGGSTSEGFEDFTGGVTEWYELRKAPSDLYQIILKALERGSLLGCSIDISSVLDMEAITFKKLVK GHAYSVTGAKQVNYRGQVVSLIRMRNPWGEVEWTGAWSDSSSEWNNVDPYERDQLRVKMEDGEFWMSFRDFMREFTRLEICNLTPDALKS RTIRKWNTTLYEGTWRRGSTAGGCRNYPATFWVNPQFKIRLDETDDPDDYGDRESGCSFVLALMQKHRRRERRFGRDMETIGFAVYEVPP ECSALSKLNAEVACVAVHDESAFVVGTEKGRMFLNARKELQSDFLRFCRGPPWKDPEAEHPKKVQRGEGGGRSLPRSSLEHGSDVYLLRK MVEEVFDVLYSEALGRASVVPLPYERLLREPGLLAVQGLPEGLAFRRPAEYDPKALMAILEHSHRIRFKLKRPLEDGGRDSKALVELNGV SLIPKGSRDCGLHGQAPKVPPQDLPPTATSSSMASFLYSTALPNHAIRELKQEAPSCPLAPSDLGLSRPMPEPKATGAQDFSDCCGQKPT GPGGPLIQNVHASKRILFSIVHDKSEKWDAFIKETEDINTLRECVQILFNSRYAEALGLDHMVPVPYRKIACDPEAVEIVGIPDKIPFKR PCTYGVPKLKRILEERHSIHFIIKRMFDERIFTGNKFTKDTTKLEPASPPEDTSAEVSRATVLDLAGNARSDKGSMSEDCGPGTSGELGG LRPIKIEPEDLDIIQVTVPDPSPTSEEMTDSMPGHLPSEDSGYGMEMLTDKGLSEDARPEERPVEDSHGDVIRPLRKQVELLFNTRYAKA IGISEPVKVPYSKFLMHPEELFVVGLPEGISLRRPNCFGIAKLRKILEASNSIQFVIKRPELLTEGVKEPIMDSQERDSGDPLVDESLKR QGFQENYDARLSRIDIANTLREQVQDLFNKKYGEALGIKYPVQVPYKRIKSNPGSVIIEGLPPGIPFRKPCTFGSQNLERILAVADKIKF TVTRPFQGLIPKPDEDDANRLGEKVILREQVKELFNEKYGEALGLNRPVLVPYKLIRDSPDAVEVTGLPDDIPFRNPNTYDIHRLEKILK AREHVRMVIINQLQPFAEICNDAKVPAKDSSIPKRKRKRVSEGNSVSSSSSSSSSSSSNPDSVASANQISLVQWPMYMVDYAGLNVQLPG -------------------------------------------------------------- >12861_12861_7_CAPN1-GTF2IRD1_CAPN1_chr11_64973192_ENST00000524773_GTF2IRD1_chr7_73927160_ENST00000455841_length(amino acids)=1386AA_BP=449 MSEEIITPVYCTGVSAQVQKQRARELGLGRHENAIKYLGQDYEQLRVRCLQSGTLFRDEAFPPVPQSLGYKDLGPNSSKTYGIKWKRPTE LLSNPQFIVDGATRTDICQGALGDCWLLAAIASLTLNDTLLHRVVPHGQSFQNGYAGIFHFQLWQFGEWVDVVVDDLLPIKDGKLVFVHS AEGNEFWSALLEKAYAKVNGSYEALSGGSTSEGFEDFTGGVTEWYELRKAPSDLYQIILKALERGSLLGCSIDISSVLDMEAITFKKLVK GHAYSVTGAKQVNYRGQVVSLIRMRNPWGEVEWTGAWSDSSSEWNNVDPYERDQLRVKMEDGEFWMSFRDFMREFTRLEICNLTPDALKS RTIRKWNTTLYEGTWRRGSTAGGCRNYPATFWVNPQFKIRLDETDDPDDYGDRESGCSFVLALMQKHRRRERRFGRDMETIGFAVYEVPP ECSALSKLNAEVACVAVHDESAFVVGTEKGRMFLNARKELQSDFLRFCLSAAQHRAATSQLEGRVVRRVLTVASRALCPTGGPPWKDPEA EHPKKVQRGEGGGRSLPRSSLEHGSDVYLLRKMVEEVFDVLYSEALGRASVVPLPYERLLREPGLLAVQGLPEGLAFRRPAEYDPKALMA ILEHSHRIRFKLKRPLEDGGRDSKALVELNGVSLIPKGSRDCGLHGQAPKVPPQDLPPTATSSSMASFLYSTALPNHAIRELKQEAPSCP LAPSDLGLSRPMPEPKATGAQDFSDCCGQKPTGPGGPLIQNVHASKRILFSIVHDKSEKWDAFIKETEDINTLRECVQILFNSRYAEALG LDHMVPVPYRKIACDPEAVEIVGIPDKIPFKRPCTYGVPKLKRILEERHSIHFIIKRMFDERIFTGNKFTKDTTKLEPASPPEDTSAEVS RATVLDLAGNARSDKGSMSEDCGPGTSGELGGLRPIKIEPEDLDIIQVTVPDPSPTSEEMTDSMPGHLPSEDSGYGMEMLTDKGLSEDAR PEERPVEDSHGDVIRPLRKQVELLFNTRYAKAIGISEPVKVPYSKFLMHPEELFVVGLPEGISLRRPNCFGIAKLRKILEASNSIQFVIK RPELLTEGVKEPIMDSQERDSGDPLVDESLKRQGFQENYDARLSRIDIANTLREQVQDLFNKKYGEALGIKYPVQVPYKRIKSNPGSVII EGLPPGIPFRKPCTFGSQNLERILAVADKIKFTVTRPFQGLIPKPDEDDANRLGEKVILREQVKELFNEKYGEALGLNRPVLVPYKLIRD SPDAVEVTGLPDDIPFRNPNTYDIHRLEKILKAREHVRMVIINQLQPFAEICNDAKVPAKDSSIPKRKRKRVSEGNSVSSSSSSSSSSSS -------------------------------------------------------------- >12861_12861_8_CAPN1-GTF2IRD1_CAPN1_chr11_64973192_ENST00000524773_GTF2IRD1_chr7_73927160_ENST00000476977_length(amino acids)=1370AA_BP=449 MSEEIITPVYCTGVSAQVQKQRARELGLGRHENAIKYLGQDYEQLRVRCLQSGTLFRDEAFPPVPQSLGYKDLGPNSSKTYGIKWKRPTE LLSNPQFIVDGATRTDICQGALGDCWLLAAIASLTLNDTLLHRVVPHGQSFQNGYAGIFHFQLWQFGEWVDVVVDDLLPIKDGKLVFVHS AEGNEFWSALLEKAYAKVNGSYEALSGGSTSEGFEDFTGGVTEWYELRKAPSDLYQIILKALERGSLLGCSIDISSVLDMEAITFKKLVK GHAYSVTGAKQVNYRGQVVSLIRMRNPWGEVEWTGAWSDSSSEWNNVDPYERDQLRVKMEDGEFWMSFRDFMREFTRLEICNLTPDALKS RTIRKWNTTLYEGTWRRGSTAGGCRNYPATFWVNPQFKIRLDETDDPDDYGDRESGCSFVLALMQKHRRRERRFGRDMETIGFAVYEVPP ECSALSKLNAEVACVAVHDESAFVVGTEKGRMFLNARKELQSDFLRFCRGPPWKDPEAEHPKKVQRGEGGGRSLPRSSLEHGSDVYLLRK MVEEVFDVLYSEALGRASVVPLPYERLLREPGLLAVQGLPEGLAFRRPAEYDPKALMAILEHSHRIRFKLKRPLEDGGRDSKALVELNGV SLIPKGSRDCGLHGQAPKVPPQDLPPTATSSSMASFLYSTALPNHAIRELKQEAPSCPLAPSDLGLSRPMPEPKATGAQDFSDCCGQKPT GPGGPLIQNVHASKRILFSIVHDKSEKWDAFIKETEDINTLRECVQILFNSRYAEALGLDHMVPVPYRKIACDPEAVEIVGIPDKIPFKR PCTYGVPKLKRILEERHSIHFIIKRMFDERIFTGNKFTKDTTKLEPASPPEDTSAEVSRATVLDLAGNARSDKGSMSEDCGPGTSGELGG LRPIKIEPEDLDIIQVTVPDPSPTSEEMTDSMPGHLPSEDSGYGMEMLTDKGLSEDARPEERPVEDSHGDVIRPLRKQVELLFNTRYAKA IGISEPVKVPYSKFLMHPEELFVVGLPEGISLRRPNCFGIAKLRKILEASNSIQFVIKRPELLTEGVKEPIMDSQERDSGDPLVDESLKR QGFQENYDARLSRIDIANTLREQVQDLFNKKYGEALGIKYPVQVPYKRIKSNPGSVIIEGLPPGIPFRKPCTFGSQNLERILAVADKIKF TVTRPFQGLIPKPDEDDANRLGEKVILREQVKELFNEKYGEALGLNRPVLVPYKLIRDSPDAVEVTGLPDDIPFRNPNTYDIHRLEKILK AREHVRMVIINQLQPFAEICNDAKVPAKDSSIPKRKRKRVSEGNSVSSSSSSSSSSSSNPDSVASANQISLVVKLHRFGLRHSSLWPSPL -------------------------------------------------------------- >12861_12861_9_CAPN1-GTF2IRD1_CAPN1_chr11_64973192_ENST00000527323_GTF2IRD1_chr7_73927160_ENST00000265755_length(amino acids)=1380AA_BP=460 MGSEQAHLSGRMSEEIITPVYCTGVSAQVQKQRARELGLGRHENAIKYLGQDYEQLRVRCLQSGTLFRDEAFPPVPQSLGYKDLGPNSSK TYGIKWKRPTELLSNPQFIVDGATRTDICQGALGDCWLLAAIASLTLNDTLLHRVVPHGQSFQNGYAGIFHFQLWQFGEWVDVVVDDLLP IKDGKLVFVHSAEGNEFWSALLEKAYAKVNGSYEALSGGSTSEGFEDFTGGVTEWYELRKAPSDLYQIILKALERGSLLGCSIDISSVLD MEAITFKKLVKGHAYSVTGAKQVNYRGQVVSLIRMRNPWGEVEWTGAWSDSSSEWNNVDPYERDQLRVKMEDGEFWMSFRDFMREFTRLE ICNLTPDALKSRTIRKWNTTLYEGTWRRGSTAGGCRNYPATFWVNPQFKIRLDETDDPDDYGDRESGCSFVLALMQKHRRRERRFGRDME TIGFAVYEVPPECSALSKLNAEVACVAVHDESAFVVGTEKGRMFLNARKELQSDFLRFCRGPPWKDPEAEHPKKVQRGEGGGRSLPRSSL EHGSDVYLLRKMVEEVFDVLYSEALGRASVVPLPYERLLREPGLLAVQGLPEGLAFRRPAEYDPKALMAILEHSHRIRFKLKRPLEDGGR DSKALVELNGVSLIPKGSRDCGLHGQAPKVPPQDLPPTATSSSMASFLYSTALPNHAIRELKQEAPSCPLAPSDLGLSRPMPEPKATGAQ DFSDCCGQKPTGPGGPLIQNVHASKRILFSIVHDKSEKWDAFIKETEDINTLRECVQILFNSRYAEALGLDHMVPVPYRKIACDPEAVEI VGIPDKIPFKRPCTYGVPKLKRILEERHSIHFIIKRMFDERIFTGNKFTKDTTKLEPASPPEDTSAEVSRATVLDLAGNARSDKGSMSED CGPGTSGELGGLRPIKIEPEDLDIIQVTVPDPSPTSEEMTDSMPGHLPSEDSGYGMEMLTDKGLSEDARPEERPVEDSHGDVIRPLRKQV ELLFNTRYAKAIGISEPVKVPYSKFLMHPEELFVVGLPEGISLRRPNCFGIAKLRKILEASNSIQFVIKRPELLTEGVKEPIMDSQGTAS SLGFSPPALPPERDSGDPLVDESLKRQGFQENYDARLSRIDIANTLREQVQDLFNKKYGEALGIKYPVQVPYKRIKSNPGSVIIEGLPPG IPFRKPCTFGSQNLERILAVADKIKFTVTRPFQGLIPKPDEDDANRLGEKVILREQVKELFNEKYGEALGLNRPVLVPYKLIRDSPDAVE VTGLPDDIPFRNPNTYDIHRLEKILKAREHVRMVIINQLQPFAEICNDAKVPAKDSSIPKRKRKRVSEGNSVSSSSSSSSSSSSNPDSVA -------------------------------------------------------------- >12861_12861_10_CAPN1-GTF2IRD1_CAPN1_chr11_64973192_ENST00000527323_GTF2IRD1_chr7_73927160_ENST00000424337_length(amino acids)=1365AA_BP=460 MGSEQAHLSGRMSEEIITPVYCTGVSAQVQKQRARELGLGRHENAIKYLGQDYEQLRVRCLQSGTLFRDEAFPPVPQSLGYKDLGPNSSK TYGIKWKRPTELLSNPQFIVDGATRTDICQGALGDCWLLAAIASLTLNDTLLHRVVPHGQSFQNGYAGIFHFQLWQFGEWVDVVVDDLLP IKDGKLVFVHSAEGNEFWSALLEKAYAKVNGSYEALSGGSTSEGFEDFTGGVTEWYELRKAPSDLYQIILKALERGSLLGCSIDISSVLD MEAITFKKLVKGHAYSVTGAKQVNYRGQVVSLIRMRNPWGEVEWTGAWSDSSSEWNNVDPYERDQLRVKMEDGEFWMSFRDFMREFTRLE ICNLTPDALKSRTIRKWNTTLYEGTWRRGSTAGGCRNYPATFWVNPQFKIRLDETDDPDDYGDRESGCSFVLALMQKHRRRERRFGRDME TIGFAVYEVPPECSALSKLNAEVACVAVHDESAFVVGTEKGRMFLNARKELQSDFLRFCRGPPWKDPEAEHPKKVQRGEGGGRSLPRSSL EHGSDVYLLRKMVEEVFDVLYSEALGRASVVPLPYERLLREPGLLAVQGLPEGLAFRRPAEYDPKALMAILEHSHRIRFKLKRPLEDGGR DSKALVELNGVSLIPKGSRDCGLHGQAPKVPPQDLPPTATSSSMASFLYSTALPNHAIRELKQEAPSCPLAPSDLGLSRPMPEPKATGAQ DFSDCCGQKPTGPGGPLIQNVHASKRILFSIVHDKSEKWDAFIKETEDINTLRECVQILFNSRYAEALGLDHMVPVPYRKIACDPEAVEI VGIPDKIPFKRPCTYGVPKLKRILEERHSIHFIIKRMFDERIFTGNKFTKDTTKLEPASPPEDTSAEVSRATVLDLAGNARSDKGSMSED CGPGTSGELGGLRPIKIEPEDLDIIQVTVPDPSPTSEEMTDSMPGHLPSEDSGYGMEMLTDKGLSEDARPEERPVEDSHGDVIRPLRKQV ELLFNTRYAKAIGISEPVKVPYSKFLMHPEELFVVGLPEGISLRRPNCFGIAKLRKILEASNSIQFVIKRPELLTEGVKEPIMDSQERDS GDPLVDESLKRQGFQENYDARLSRIDIANTLREQVQDLFNKKYGEALGIKYPVQVPYKRIKSNPGSVIIEGLPPGIPFRKPCTFGSQNLE RILAVADKIKFTVTRPFQGLIPKPDEDDANRLGEKVILREQVKELFNEKYGEALGLNRPVLVPYKLIRDSPDAVEVTGLPDDIPFRNPNT YDIHRLEKILKAREHVRMVIINQLQPFAEICNDAKVPAKDSSIPKRKRKRVSEGNSVSSSSSSSSSSSSNPDSVASANQISLVQWPMYMV -------------------------------------------------------------- >12861_12861_11_CAPN1-GTF2IRD1_CAPN1_chr11_64973192_ENST00000527323_GTF2IRD1_chr7_73927160_ENST00000455841_length(amino acids)=1397AA_BP=460 MGSEQAHLSGRMSEEIITPVYCTGVSAQVQKQRARELGLGRHENAIKYLGQDYEQLRVRCLQSGTLFRDEAFPPVPQSLGYKDLGPNSSK TYGIKWKRPTELLSNPQFIVDGATRTDICQGALGDCWLLAAIASLTLNDTLLHRVVPHGQSFQNGYAGIFHFQLWQFGEWVDVVVDDLLP IKDGKLVFVHSAEGNEFWSALLEKAYAKVNGSYEALSGGSTSEGFEDFTGGVTEWYELRKAPSDLYQIILKALERGSLLGCSIDISSVLD MEAITFKKLVKGHAYSVTGAKQVNYRGQVVSLIRMRNPWGEVEWTGAWSDSSSEWNNVDPYERDQLRVKMEDGEFWMSFRDFMREFTRLE ICNLTPDALKSRTIRKWNTTLYEGTWRRGSTAGGCRNYPATFWVNPQFKIRLDETDDPDDYGDRESGCSFVLALMQKHRRRERRFGRDME TIGFAVYEVPPECSALSKLNAEVACVAVHDESAFVVGTEKGRMFLNARKELQSDFLRFCLSAAQHRAATSQLEGRVVRRVLTVASRALCP TGGPPWKDPEAEHPKKVQRGEGGGRSLPRSSLEHGSDVYLLRKMVEEVFDVLYSEALGRASVVPLPYERLLREPGLLAVQGLPEGLAFRR PAEYDPKALMAILEHSHRIRFKLKRPLEDGGRDSKALVELNGVSLIPKGSRDCGLHGQAPKVPPQDLPPTATSSSMASFLYSTALPNHAI RELKQEAPSCPLAPSDLGLSRPMPEPKATGAQDFSDCCGQKPTGPGGPLIQNVHASKRILFSIVHDKSEKWDAFIKETEDINTLRECVQI LFNSRYAEALGLDHMVPVPYRKIACDPEAVEIVGIPDKIPFKRPCTYGVPKLKRILEERHSIHFIIKRMFDERIFTGNKFTKDTTKLEPA SPPEDTSAEVSRATVLDLAGNARSDKGSMSEDCGPGTSGELGGLRPIKIEPEDLDIIQVTVPDPSPTSEEMTDSMPGHLPSEDSGYGMEM LTDKGLSEDARPEERPVEDSHGDVIRPLRKQVELLFNTRYAKAIGISEPVKVPYSKFLMHPEELFVVGLPEGISLRRPNCFGIAKLRKIL EASNSIQFVIKRPELLTEGVKEPIMDSQERDSGDPLVDESLKRQGFQENYDARLSRIDIANTLREQVQDLFNKKYGEALGIKYPVQVPYK RIKSNPGSVIIEGLPPGIPFRKPCTFGSQNLERILAVADKIKFTVTRPFQGLIPKPDEDDANRLGEKVILREQVKELFNEKYGEALGLNR PVLVPYKLIRDSPDAVEVTGLPDDIPFRNPNTYDIHRLEKILKAREHVRMVIINQLQPFAEICNDAKVPAKDSSIPKRKRKRVSEGNSVS -------------------------------------------------------------- >12861_12861_12_CAPN1-GTF2IRD1_CAPN1_chr11_64973192_ENST00000527323_GTF2IRD1_chr7_73927160_ENST00000476977_length(amino acids)=1381AA_BP=460 MGSEQAHLSGRMSEEIITPVYCTGVSAQVQKQRARELGLGRHENAIKYLGQDYEQLRVRCLQSGTLFRDEAFPPVPQSLGYKDLGPNSSK TYGIKWKRPTELLSNPQFIVDGATRTDICQGALGDCWLLAAIASLTLNDTLLHRVVPHGQSFQNGYAGIFHFQLWQFGEWVDVVVDDLLP IKDGKLVFVHSAEGNEFWSALLEKAYAKVNGSYEALSGGSTSEGFEDFTGGVTEWYELRKAPSDLYQIILKALERGSLLGCSIDISSVLD MEAITFKKLVKGHAYSVTGAKQVNYRGQVVSLIRMRNPWGEVEWTGAWSDSSSEWNNVDPYERDQLRVKMEDGEFWMSFRDFMREFTRLE ICNLTPDALKSRTIRKWNTTLYEGTWRRGSTAGGCRNYPATFWVNPQFKIRLDETDDPDDYGDRESGCSFVLALMQKHRRRERRFGRDME TIGFAVYEVPPECSALSKLNAEVACVAVHDESAFVVGTEKGRMFLNARKELQSDFLRFCRGPPWKDPEAEHPKKVQRGEGGGRSLPRSSL EHGSDVYLLRKMVEEVFDVLYSEALGRASVVPLPYERLLREPGLLAVQGLPEGLAFRRPAEYDPKALMAILEHSHRIRFKLKRPLEDGGR DSKALVELNGVSLIPKGSRDCGLHGQAPKVPPQDLPPTATSSSMASFLYSTALPNHAIRELKQEAPSCPLAPSDLGLSRPMPEPKATGAQ DFSDCCGQKPTGPGGPLIQNVHASKRILFSIVHDKSEKWDAFIKETEDINTLRECVQILFNSRYAEALGLDHMVPVPYRKIACDPEAVEI VGIPDKIPFKRPCTYGVPKLKRILEERHSIHFIIKRMFDERIFTGNKFTKDTTKLEPASPPEDTSAEVSRATVLDLAGNARSDKGSMSED CGPGTSGELGGLRPIKIEPEDLDIIQVTVPDPSPTSEEMTDSMPGHLPSEDSGYGMEMLTDKGLSEDARPEERPVEDSHGDVIRPLRKQV ELLFNTRYAKAIGISEPVKVPYSKFLMHPEELFVVGLPEGISLRRPNCFGIAKLRKILEASNSIQFVIKRPELLTEGVKEPIMDSQERDS GDPLVDESLKRQGFQENYDARLSRIDIANTLREQVQDLFNKKYGEALGIKYPVQVPYKRIKSNPGSVIIEGLPPGIPFRKPCTFGSQNLE RILAVADKIKFTVTRPFQGLIPKPDEDDANRLGEKVILREQVKELFNEKYGEALGLNRPVLVPYKLIRDSPDAVEVTGLPDDIPFRNPNT YDIHRLEKILKAREHVRMVIINQLQPFAEICNDAKVPAKDSSIPKRKRKRVSEGNSVSSSSSSSSSSSSNPDSVASANQISLVVKLHRFG -------------------------------------------------------------- >12861_12861_13_CAPN1-GTF2IRD1_CAPN1_chr11_64973192_ENST00000533129_GTF2IRD1_chr7_73927160_ENST00000265755_length(amino acids)=1369AA_BP=449 MSEEIITPVYCTGVSAQVQKQRARELGLGRHENAIKYLGQDYEQLRVRCLQSGTLFRDEAFPPVPQSLGYKDLGPNSSKTYGIKWKRPTE LLSNPQFIVDGATRTDICQGALGDCWLLAAIASLTLNDTLLHRVVPHGQSFQNGYAGIFHFQLWQFGEWVDVVVDDLLPIKDGKLVFVHS AEGNEFWSALLEKAYAKVNGSYEALSGGSTSEGFEDFTGGVTEWYELRKAPSDLYQIILKALERGSLLGCSIDISSVLDMEAITFKKLVK GHAYSVTGAKQVNYRGQVVSLIRMRNPWGEVEWTGAWSDSSSEWNNVDPYERDQLRVKMEDGEFWMSFRDFMREFTRLEICNLTPDALKS RTIRKWNTTLYEGTWRRGSTAGGCRNYPATFWVNPQFKIRLDETDDPDDYGDRESGCSFVLALMQKHRRRERRFGRDMETIGFAVYEVPP ECSALSKLNAEVACVAVHDESAFVVGTEKGRMFLNARKELQSDFLRFCRGPPWKDPEAEHPKKVQRGEGGGRSLPRSSLEHGSDVYLLRK MVEEVFDVLYSEALGRASVVPLPYERLLREPGLLAVQGLPEGLAFRRPAEYDPKALMAILEHSHRIRFKLKRPLEDGGRDSKALVELNGV SLIPKGSRDCGLHGQAPKVPPQDLPPTATSSSMASFLYSTALPNHAIRELKQEAPSCPLAPSDLGLSRPMPEPKATGAQDFSDCCGQKPT GPGGPLIQNVHASKRILFSIVHDKSEKWDAFIKETEDINTLRECVQILFNSRYAEALGLDHMVPVPYRKIACDPEAVEIVGIPDKIPFKR PCTYGVPKLKRILEERHSIHFIIKRMFDERIFTGNKFTKDTTKLEPASPPEDTSAEVSRATVLDLAGNARSDKGSMSEDCGPGTSGELGG LRPIKIEPEDLDIIQVTVPDPSPTSEEMTDSMPGHLPSEDSGYGMEMLTDKGLSEDARPEERPVEDSHGDVIRPLRKQVELLFNTRYAKA IGISEPVKVPYSKFLMHPEELFVVGLPEGISLRRPNCFGIAKLRKILEASNSIQFVIKRPELLTEGVKEPIMDSQGTASSLGFSPPALPP ERDSGDPLVDESLKRQGFQENYDARLSRIDIANTLREQVQDLFNKKYGEALGIKYPVQVPYKRIKSNPGSVIIEGLPPGIPFRKPCTFGS QNLERILAVADKIKFTVTRPFQGLIPKPDEDDANRLGEKVILREQVKELFNEKYGEALGLNRPVLVPYKLIRDSPDAVEVTGLPDDIPFR NPNTYDIHRLEKILKAREHVRMVIINQLQPFAEICNDAKVPAKDSSIPKRKRKRVSEGNSVSSSSSSSSSSSSNPDSVASANQISLVQWP -------------------------------------------------------------- >12861_12861_14_CAPN1-GTF2IRD1_CAPN1_chr11_64973192_ENST00000533129_GTF2IRD1_chr7_73927160_ENST00000424337_length(amino acids)=1354AA_BP=449 MSEEIITPVYCTGVSAQVQKQRARELGLGRHENAIKYLGQDYEQLRVRCLQSGTLFRDEAFPPVPQSLGYKDLGPNSSKTYGIKWKRPTE LLSNPQFIVDGATRTDICQGALGDCWLLAAIASLTLNDTLLHRVVPHGQSFQNGYAGIFHFQLWQFGEWVDVVVDDLLPIKDGKLVFVHS AEGNEFWSALLEKAYAKVNGSYEALSGGSTSEGFEDFTGGVTEWYELRKAPSDLYQIILKALERGSLLGCSIDISSVLDMEAITFKKLVK GHAYSVTGAKQVNYRGQVVSLIRMRNPWGEVEWTGAWSDSSSEWNNVDPYERDQLRVKMEDGEFWMSFRDFMREFTRLEICNLTPDALKS RTIRKWNTTLYEGTWRRGSTAGGCRNYPATFWVNPQFKIRLDETDDPDDYGDRESGCSFVLALMQKHRRRERRFGRDMETIGFAVYEVPP ECSALSKLNAEVACVAVHDESAFVVGTEKGRMFLNARKELQSDFLRFCRGPPWKDPEAEHPKKVQRGEGGGRSLPRSSLEHGSDVYLLRK MVEEVFDVLYSEALGRASVVPLPYERLLREPGLLAVQGLPEGLAFRRPAEYDPKALMAILEHSHRIRFKLKRPLEDGGRDSKALVELNGV SLIPKGSRDCGLHGQAPKVPPQDLPPTATSSSMASFLYSTALPNHAIRELKQEAPSCPLAPSDLGLSRPMPEPKATGAQDFSDCCGQKPT GPGGPLIQNVHASKRILFSIVHDKSEKWDAFIKETEDINTLRECVQILFNSRYAEALGLDHMVPVPYRKIACDPEAVEIVGIPDKIPFKR PCTYGVPKLKRILEERHSIHFIIKRMFDERIFTGNKFTKDTTKLEPASPPEDTSAEVSRATVLDLAGNARSDKGSMSEDCGPGTSGELGG LRPIKIEPEDLDIIQVTVPDPSPTSEEMTDSMPGHLPSEDSGYGMEMLTDKGLSEDARPEERPVEDSHGDVIRPLRKQVELLFNTRYAKA IGISEPVKVPYSKFLMHPEELFVVGLPEGISLRRPNCFGIAKLRKILEASNSIQFVIKRPELLTEGVKEPIMDSQERDSGDPLVDESLKR QGFQENYDARLSRIDIANTLREQVQDLFNKKYGEALGIKYPVQVPYKRIKSNPGSVIIEGLPPGIPFRKPCTFGSQNLERILAVADKIKF TVTRPFQGLIPKPDEDDANRLGEKVILREQVKELFNEKYGEALGLNRPVLVPYKLIRDSPDAVEVTGLPDDIPFRNPNTYDIHRLEKILK AREHVRMVIINQLQPFAEICNDAKVPAKDSSIPKRKRKRVSEGNSVSSSSSSSSSSSSNPDSVASANQISLVQWPMYMVDYAGLNVQLPG -------------------------------------------------------------- >12861_12861_15_CAPN1-GTF2IRD1_CAPN1_chr11_64973192_ENST00000533129_GTF2IRD1_chr7_73927160_ENST00000455841_length(amino acids)=1386AA_BP=449 MSEEIITPVYCTGVSAQVQKQRARELGLGRHENAIKYLGQDYEQLRVRCLQSGTLFRDEAFPPVPQSLGYKDLGPNSSKTYGIKWKRPTE LLSNPQFIVDGATRTDICQGALGDCWLLAAIASLTLNDTLLHRVVPHGQSFQNGYAGIFHFQLWQFGEWVDVVVDDLLPIKDGKLVFVHS AEGNEFWSALLEKAYAKVNGSYEALSGGSTSEGFEDFTGGVTEWYELRKAPSDLYQIILKALERGSLLGCSIDISSVLDMEAITFKKLVK GHAYSVTGAKQVNYRGQVVSLIRMRNPWGEVEWTGAWSDSSSEWNNVDPYERDQLRVKMEDGEFWMSFRDFMREFTRLEICNLTPDALKS RTIRKWNTTLYEGTWRRGSTAGGCRNYPATFWVNPQFKIRLDETDDPDDYGDRESGCSFVLALMQKHRRRERRFGRDMETIGFAVYEVPP ECSALSKLNAEVACVAVHDESAFVVGTEKGRMFLNARKELQSDFLRFCLSAAQHRAATSQLEGRVVRRVLTVASRALCPTGGPPWKDPEA EHPKKVQRGEGGGRSLPRSSLEHGSDVYLLRKMVEEVFDVLYSEALGRASVVPLPYERLLREPGLLAVQGLPEGLAFRRPAEYDPKALMA ILEHSHRIRFKLKRPLEDGGRDSKALVELNGVSLIPKGSRDCGLHGQAPKVPPQDLPPTATSSSMASFLYSTALPNHAIRELKQEAPSCP LAPSDLGLSRPMPEPKATGAQDFSDCCGQKPTGPGGPLIQNVHASKRILFSIVHDKSEKWDAFIKETEDINTLRECVQILFNSRYAEALG LDHMVPVPYRKIACDPEAVEIVGIPDKIPFKRPCTYGVPKLKRILEERHSIHFIIKRMFDERIFTGNKFTKDTTKLEPASPPEDTSAEVS RATVLDLAGNARSDKGSMSEDCGPGTSGELGGLRPIKIEPEDLDIIQVTVPDPSPTSEEMTDSMPGHLPSEDSGYGMEMLTDKGLSEDAR PEERPVEDSHGDVIRPLRKQVELLFNTRYAKAIGISEPVKVPYSKFLMHPEELFVVGLPEGISLRRPNCFGIAKLRKILEASNSIQFVIK RPELLTEGVKEPIMDSQERDSGDPLVDESLKRQGFQENYDARLSRIDIANTLREQVQDLFNKKYGEALGIKYPVQVPYKRIKSNPGSVII EGLPPGIPFRKPCTFGSQNLERILAVADKIKFTVTRPFQGLIPKPDEDDANRLGEKVILREQVKELFNEKYGEALGLNRPVLVPYKLIRD SPDAVEVTGLPDDIPFRNPNTYDIHRLEKILKAREHVRMVIINQLQPFAEICNDAKVPAKDSSIPKRKRKRVSEGNSVSSSSSSSSSSSS -------------------------------------------------------------- >12861_12861_16_CAPN1-GTF2IRD1_CAPN1_chr11_64973192_ENST00000533129_GTF2IRD1_chr7_73927160_ENST00000476977_length(amino acids)=1370AA_BP=449 MSEEIITPVYCTGVSAQVQKQRARELGLGRHENAIKYLGQDYEQLRVRCLQSGTLFRDEAFPPVPQSLGYKDLGPNSSKTYGIKWKRPTE LLSNPQFIVDGATRTDICQGALGDCWLLAAIASLTLNDTLLHRVVPHGQSFQNGYAGIFHFQLWQFGEWVDVVVDDLLPIKDGKLVFVHS AEGNEFWSALLEKAYAKVNGSYEALSGGSTSEGFEDFTGGVTEWYELRKAPSDLYQIILKALERGSLLGCSIDISSVLDMEAITFKKLVK GHAYSVTGAKQVNYRGQVVSLIRMRNPWGEVEWTGAWSDSSSEWNNVDPYERDQLRVKMEDGEFWMSFRDFMREFTRLEICNLTPDALKS RTIRKWNTTLYEGTWRRGSTAGGCRNYPATFWVNPQFKIRLDETDDPDDYGDRESGCSFVLALMQKHRRRERRFGRDMETIGFAVYEVPP ECSALSKLNAEVACVAVHDESAFVVGTEKGRMFLNARKELQSDFLRFCRGPPWKDPEAEHPKKVQRGEGGGRSLPRSSLEHGSDVYLLRK MVEEVFDVLYSEALGRASVVPLPYERLLREPGLLAVQGLPEGLAFRRPAEYDPKALMAILEHSHRIRFKLKRPLEDGGRDSKALVELNGV SLIPKGSRDCGLHGQAPKVPPQDLPPTATSSSMASFLYSTALPNHAIRELKQEAPSCPLAPSDLGLSRPMPEPKATGAQDFSDCCGQKPT GPGGPLIQNVHASKRILFSIVHDKSEKWDAFIKETEDINTLRECVQILFNSRYAEALGLDHMVPVPYRKIACDPEAVEIVGIPDKIPFKR PCTYGVPKLKRILEERHSIHFIIKRMFDERIFTGNKFTKDTTKLEPASPPEDTSAEVSRATVLDLAGNARSDKGSMSEDCGPGTSGELGG LRPIKIEPEDLDIIQVTVPDPSPTSEEMTDSMPGHLPSEDSGYGMEMLTDKGLSEDARPEERPVEDSHGDVIRPLRKQVELLFNTRYAKA IGISEPVKVPYSKFLMHPEELFVVGLPEGISLRRPNCFGIAKLRKILEASNSIQFVIKRPELLTEGVKEPIMDSQERDSGDPLVDESLKR QGFQENYDARLSRIDIANTLREQVQDLFNKKYGEALGIKYPVQVPYKRIKSNPGSVIIEGLPPGIPFRKPCTFGSQNLERILAVADKIKF TVTRPFQGLIPKPDEDDANRLGEKVILREQVKELFNEKYGEALGLNRPVLVPYKLIRDSPDAVEVTGLPDDIPFRNPNTYDIHRLEKILK AREHVRMVIINQLQPFAEICNDAKVPAKDSSIPKRKRKRVSEGNSVSSSSSSSSSSSSNPDSVASANQISLVVKLHRFGLRHSSLWPSPL -------------------------------------------------------------- >12861_12861_17_CAPN1-GTF2IRD1_CAPN1_chr11_64973192_ENST00000533820_GTF2IRD1_chr7_73927160_ENST00000265755_length(amino acids)=1386AA_BP=466 MLAASPAPPQSSCRSPRMSEEIITPVYCTGVSAQVQKQRARELGLGRHENAIKYLGQDYEQLRVRCLQSGTLFRDEAFPPVPQSLGYKDL GPNSSKTYGIKWKRPTELLSNPQFIVDGATRTDICQGALGDCWLLAAIASLTLNDTLLHRVVPHGQSFQNGYAGIFHFQLWQFGEWVDVV VDDLLPIKDGKLVFVHSAEGNEFWSALLEKAYAKVNGSYEALSGGSTSEGFEDFTGGVTEWYELRKAPSDLYQIILKALERGSLLGCSID ISSVLDMEAITFKKLVKGHAYSVTGAKQVNYRGQVVSLIRMRNPWGEVEWTGAWSDSSSEWNNVDPYERDQLRVKMEDGEFWMSFRDFMR EFTRLEICNLTPDALKSRTIRKWNTTLYEGTWRRGSTAGGCRNYPATFWVNPQFKIRLDETDDPDDYGDRESGCSFVLALMQKHRRRERR FGRDMETIGFAVYEVPPECSALSKLNAEVACVAVHDESAFVVGTEKGRMFLNARKELQSDFLRFCRGPPWKDPEAEHPKKVQRGEGGGRS LPRSSLEHGSDVYLLRKMVEEVFDVLYSEALGRASVVPLPYERLLREPGLLAVQGLPEGLAFRRPAEYDPKALMAILEHSHRIRFKLKRP LEDGGRDSKALVELNGVSLIPKGSRDCGLHGQAPKVPPQDLPPTATSSSMASFLYSTALPNHAIRELKQEAPSCPLAPSDLGLSRPMPEP KATGAQDFSDCCGQKPTGPGGPLIQNVHASKRILFSIVHDKSEKWDAFIKETEDINTLRECVQILFNSRYAEALGLDHMVPVPYRKIACD PEAVEIVGIPDKIPFKRPCTYGVPKLKRILEERHSIHFIIKRMFDERIFTGNKFTKDTTKLEPASPPEDTSAEVSRATVLDLAGNARSDK GSMSEDCGPGTSGELGGLRPIKIEPEDLDIIQVTVPDPSPTSEEMTDSMPGHLPSEDSGYGMEMLTDKGLSEDARPEERPVEDSHGDVIR PLRKQVELLFNTRYAKAIGISEPVKVPYSKFLMHPEELFVVGLPEGISLRRPNCFGIAKLRKILEASNSIQFVIKRPELLTEGVKEPIMD SQGTASSLGFSPPALPPERDSGDPLVDESLKRQGFQENYDARLSRIDIANTLREQVQDLFNKKYGEALGIKYPVQVPYKRIKSNPGSVII EGLPPGIPFRKPCTFGSQNLERILAVADKIKFTVTRPFQGLIPKPDEDDANRLGEKVILREQVKELFNEKYGEALGLNRPVLVPYKLIRD SPDAVEVTGLPDDIPFRNPNTYDIHRLEKILKAREHVRMVIINQLQPFAEICNDAKVPAKDSSIPKRKRKRVSEGNSVSSSSSSSSSSSS -------------------------------------------------------------- >12861_12861_18_CAPN1-GTF2IRD1_CAPN1_chr11_64973192_ENST00000533820_GTF2IRD1_chr7_73927160_ENST00000424337_length(amino acids)=1371AA_BP=466 MLAASPAPPQSSCRSPRMSEEIITPVYCTGVSAQVQKQRARELGLGRHENAIKYLGQDYEQLRVRCLQSGTLFRDEAFPPVPQSLGYKDL GPNSSKTYGIKWKRPTELLSNPQFIVDGATRTDICQGALGDCWLLAAIASLTLNDTLLHRVVPHGQSFQNGYAGIFHFQLWQFGEWVDVV VDDLLPIKDGKLVFVHSAEGNEFWSALLEKAYAKVNGSYEALSGGSTSEGFEDFTGGVTEWYELRKAPSDLYQIILKALERGSLLGCSID ISSVLDMEAITFKKLVKGHAYSVTGAKQVNYRGQVVSLIRMRNPWGEVEWTGAWSDSSSEWNNVDPYERDQLRVKMEDGEFWMSFRDFMR EFTRLEICNLTPDALKSRTIRKWNTTLYEGTWRRGSTAGGCRNYPATFWVNPQFKIRLDETDDPDDYGDRESGCSFVLALMQKHRRRERR FGRDMETIGFAVYEVPPECSALSKLNAEVACVAVHDESAFVVGTEKGRMFLNARKELQSDFLRFCRGPPWKDPEAEHPKKVQRGEGGGRS LPRSSLEHGSDVYLLRKMVEEVFDVLYSEALGRASVVPLPYERLLREPGLLAVQGLPEGLAFRRPAEYDPKALMAILEHSHRIRFKLKRP LEDGGRDSKALVELNGVSLIPKGSRDCGLHGQAPKVPPQDLPPTATSSSMASFLYSTALPNHAIRELKQEAPSCPLAPSDLGLSRPMPEP KATGAQDFSDCCGQKPTGPGGPLIQNVHASKRILFSIVHDKSEKWDAFIKETEDINTLRECVQILFNSRYAEALGLDHMVPVPYRKIACD PEAVEIVGIPDKIPFKRPCTYGVPKLKRILEERHSIHFIIKRMFDERIFTGNKFTKDTTKLEPASPPEDTSAEVSRATVLDLAGNARSDK GSMSEDCGPGTSGELGGLRPIKIEPEDLDIIQVTVPDPSPTSEEMTDSMPGHLPSEDSGYGMEMLTDKGLSEDARPEERPVEDSHGDVIR PLRKQVELLFNTRYAKAIGISEPVKVPYSKFLMHPEELFVVGLPEGISLRRPNCFGIAKLRKILEASNSIQFVIKRPELLTEGVKEPIMD SQERDSGDPLVDESLKRQGFQENYDARLSRIDIANTLREQVQDLFNKKYGEALGIKYPVQVPYKRIKSNPGSVIIEGLPPGIPFRKPCTF GSQNLERILAVADKIKFTVTRPFQGLIPKPDEDDANRLGEKVILREQVKELFNEKYGEALGLNRPVLVPYKLIRDSPDAVEVTGLPDDIP FRNPNTYDIHRLEKILKAREHVRMVIINQLQPFAEICNDAKVPAKDSSIPKRKRKRVSEGNSVSSSSSSSSSSSSNPDSVASANQISLVQ -------------------------------------------------------------- >12861_12861_19_CAPN1-GTF2IRD1_CAPN1_chr11_64973192_ENST00000533820_GTF2IRD1_chr7_73927160_ENST00000455841_length(amino acids)=1403AA_BP=466 MLAASPAPPQSSCRSPRMSEEIITPVYCTGVSAQVQKQRARELGLGRHENAIKYLGQDYEQLRVRCLQSGTLFRDEAFPPVPQSLGYKDL GPNSSKTYGIKWKRPTELLSNPQFIVDGATRTDICQGALGDCWLLAAIASLTLNDTLLHRVVPHGQSFQNGYAGIFHFQLWQFGEWVDVV VDDLLPIKDGKLVFVHSAEGNEFWSALLEKAYAKVNGSYEALSGGSTSEGFEDFTGGVTEWYELRKAPSDLYQIILKALERGSLLGCSID ISSVLDMEAITFKKLVKGHAYSVTGAKQVNYRGQVVSLIRMRNPWGEVEWTGAWSDSSSEWNNVDPYERDQLRVKMEDGEFWMSFRDFMR EFTRLEICNLTPDALKSRTIRKWNTTLYEGTWRRGSTAGGCRNYPATFWVNPQFKIRLDETDDPDDYGDRESGCSFVLALMQKHRRRERR FGRDMETIGFAVYEVPPECSALSKLNAEVACVAVHDESAFVVGTEKGRMFLNARKELQSDFLRFCLSAAQHRAATSQLEGRVVRRVLTVA SRALCPTGGPPWKDPEAEHPKKVQRGEGGGRSLPRSSLEHGSDVYLLRKMVEEVFDVLYSEALGRASVVPLPYERLLREPGLLAVQGLPE GLAFRRPAEYDPKALMAILEHSHRIRFKLKRPLEDGGRDSKALVELNGVSLIPKGSRDCGLHGQAPKVPPQDLPPTATSSSMASFLYSTA LPNHAIRELKQEAPSCPLAPSDLGLSRPMPEPKATGAQDFSDCCGQKPTGPGGPLIQNVHASKRILFSIVHDKSEKWDAFIKETEDINTL RECVQILFNSRYAEALGLDHMVPVPYRKIACDPEAVEIVGIPDKIPFKRPCTYGVPKLKRILEERHSIHFIIKRMFDERIFTGNKFTKDT TKLEPASPPEDTSAEVSRATVLDLAGNARSDKGSMSEDCGPGTSGELGGLRPIKIEPEDLDIIQVTVPDPSPTSEEMTDSMPGHLPSEDS GYGMEMLTDKGLSEDARPEERPVEDSHGDVIRPLRKQVELLFNTRYAKAIGISEPVKVPYSKFLMHPEELFVVGLPEGISLRRPNCFGIA KLRKILEASNSIQFVIKRPELLTEGVKEPIMDSQERDSGDPLVDESLKRQGFQENYDARLSRIDIANTLREQVQDLFNKKYGEALGIKYP VQVPYKRIKSNPGSVIIEGLPPGIPFRKPCTFGSQNLERILAVADKIKFTVTRPFQGLIPKPDEDDANRLGEKVILREQVKELFNEKYGE ALGLNRPVLVPYKLIRDSPDAVEVTGLPDDIPFRNPNTYDIHRLEKILKAREHVRMVIINQLQPFAEICNDAKVPAKDSSIPKRKRKRVS -------------------------------------------------------------- >12861_12861_20_CAPN1-GTF2IRD1_CAPN1_chr11_64973192_ENST00000533820_GTF2IRD1_chr7_73927160_ENST00000476977_length(amino acids)=1387AA_BP=466 MLAASPAPPQSSCRSPRMSEEIITPVYCTGVSAQVQKQRARELGLGRHENAIKYLGQDYEQLRVRCLQSGTLFRDEAFPPVPQSLGYKDL GPNSSKTYGIKWKRPTELLSNPQFIVDGATRTDICQGALGDCWLLAAIASLTLNDTLLHRVVPHGQSFQNGYAGIFHFQLWQFGEWVDVV VDDLLPIKDGKLVFVHSAEGNEFWSALLEKAYAKVNGSYEALSGGSTSEGFEDFTGGVTEWYELRKAPSDLYQIILKALERGSLLGCSID ISSVLDMEAITFKKLVKGHAYSVTGAKQVNYRGQVVSLIRMRNPWGEVEWTGAWSDSSSEWNNVDPYERDQLRVKMEDGEFWMSFRDFMR EFTRLEICNLTPDALKSRTIRKWNTTLYEGTWRRGSTAGGCRNYPATFWVNPQFKIRLDETDDPDDYGDRESGCSFVLALMQKHRRRERR FGRDMETIGFAVYEVPPECSALSKLNAEVACVAVHDESAFVVGTEKGRMFLNARKELQSDFLRFCRGPPWKDPEAEHPKKVQRGEGGGRS LPRSSLEHGSDVYLLRKMVEEVFDVLYSEALGRASVVPLPYERLLREPGLLAVQGLPEGLAFRRPAEYDPKALMAILEHSHRIRFKLKRP LEDGGRDSKALVELNGVSLIPKGSRDCGLHGQAPKVPPQDLPPTATSSSMASFLYSTALPNHAIRELKQEAPSCPLAPSDLGLSRPMPEP KATGAQDFSDCCGQKPTGPGGPLIQNVHASKRILFSIVHDKSEKWDAFIKETEDINTLRECVQILFNSRYAEALGLDHMVPVPYRKIACD PEAVEIVGIPDKIPFKRPCTYGVPKLKRILEERHSIHFIIKRMFDERIFTGNKFTKDTTKLEPASPPEDTSAEVSRATVLDLAGNARSDK GSMSEDCGPGTSGELGGLRPIKIEPEDLDIIQVTVPDPSPTSEEMTDSMPGHLPSEDSGYGMEMLTDKGLSEDARPEERPVEDSHGDVIR PLRKQVELLFNTRYAKAIGISEPVKVPYSKFLMHPEELFVVGLPEGISLRRPNCFGIAKLRKILEASNSIQFVIKRPELLTEGVKEPIMD SQERDSGDPLVDESLKRQGFQENYDARLSRIDIANTLREQVQDLFNKKYGEALGIKYPVQVPYKRIKSNPGSVIIEGLPPGIPFRKPCTF GSQNLERILAVADKIKFTVTRPFQGLIPKPDEDDANRLGEKVILREQVKELFNEKYGEALGLNRPVLVPYKLIRDSPDAVEVTGLPDDIP FRNPNTYDIHRLEKILKAREHVRMVIINQLQPFAEICNDAKVPAKDSSIPKRKRKRVSEGNSVSSSSSSSSSSSSNPDSVASANQISLVV -------------------------------------------------------------- |
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Fusion Protein Functional Features |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr11:64973192/chr7:73927160) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
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Hgene | Tgene |
CAPN1 | GTF2IRD1 |
FUNCTION: May be a transcription regulator involved in cell-cycle progression and skeletal muscle differentiation. May repress GTF2I transcriptional functions, by preventing its nuclear residency, or by inhibiting its transcriptional activation. May contribute to slow-twitch fiber type specificity during myogenesis and in regenerating muscles. Binds troponin I slow-muscle fiber enhancer (USE B1). Binds specifically and with high affinity to the EFG sequences derived from the early enhancer of HOXC8 (By similarity). {ECO:0000250, ECO:0000269|PubMed:11438732}. |
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- 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 | CAPN1 | chr11:64973192 | chr7:73927160 | ENST00000279247 | - | 12 | 22 | 302_333 | 451.0 | 715.0 | Calcium binding | Note=2 |
Hgene | CAPN1 | chr11:64973192 | chr7:73927160 | ENST00000279247 | - | 12 | 22 | 99_106 | 451.0 | 715.0 | Calcium binding | Note=1 |
Hgene | CAPN1 | chr11:64973192 | chr7:73927160 | ENST00000524773 | - | 12 | 22 | 302_333 | 451.0 | 715.0 | Calcium binding | Note=2 |
Hgene | CAPN1 | chr11:64973192 | chr7:73927160 | ENST00000524773 | - | 12 | 22 | 99_106 | 451.0 | 715.0 | Calcium binding | Note=1 |
Hgene | CAPN1 | chr11:64973192 | chr7:73927160 | ENST00000527323 | - | 11 | 21 | 302_333 | 451.0 | 715.0 | Calcium binding | Note=2 |
Hgene | CAPN1 | chr11:64973192 | chr7:73927160 | ENST00000527323 | - | 11 | 21 | 99_106 | 451.0 | 715.0 | Calcium binding | Note=1 |
Hgene | CAPN1 | chr11:64973192 | chr7:73927160 | ENST00000533129 | - | 12 | 22 | 302_333 | 451.0 | 715.0 | Calcium binding | Note=2 |
Hgene | CAPN1 | chr11:64973192 | chr7:73927160 | ENST00000533129 | - | 12 | 22 | 99_106 | 451.0 | 715.0 | Calcium binding | Note=1 |
Hgene | CAPN1 | chr11:64973192 | chr7:73927160 | ENST00000533820 | - | 12 | 22 | 302_333 | 451.0 | 715.0 | Calcium binding | Note=2 |
Hgene | CAPN1 | chr11:64973192 | chr7:73927160 | ENST00000533820 | - | 12 | 22 | 99_106 | 451.0 | 715.0 | Calcium binding | Note=1 |
Hgene | CAPN1 | chr11:64973192 | chr7:73927160 | ENST00000279247 | - | 12 | 22 | 55_354 | 451.0 | 715.0 | Domain | Calpain catalytic |
Hgene | CAPN1 | chr11:64973192 | chr7:73927160 | ENST00000524773 | - | 12 | 22 | 55_354 | 451.0 | 715.0 | Domain | Calpain catalytic |
Hgene | CAPN1 | chr11:64973192 | chr7:73927160 | ENST00000527323 | - | 11 | 21 | 55_354 | 451.0 | 715.0 | Domain | Calpain catalytic |
Hgene | CAPN1 | chr11:64973192 | chr7:73927160 | ENST00000533129 | - | 12 | 22 | 55_354 | 451.0 | 715.0 | Domain | Calpain catalytic |
Hgene | CAPN1 | chr11:64973192 | chr7:73927160 | ENST00000533820 | - | 12 | 22 | 55_354 | 451.0 | 715.0 | Domain | Calpain catalytic |
Tgene | GTF2IRD1 | chr11:64973192 | chr7:73927160 | ENST00000265755 | 1 | 27 | 906_930 | 41.0 | 960.0 | Compositional bias | Note=Ser-rich | |
Tgene | GTF2IRD1 | chr11:64973192 | chr7:73927160 | ENST00000424337 | 1 | 27 | 906_930 | 41.0 | 945.0 | Compositional bias | Note=Ser-rich | |
Tgene | GTF2IRD1 | chr11:64973192 | chr7:73927160 | ENST00000455841 | 1 | 27 | 906_930 | 41.0 | 977.0 | Compositional bias | Note=Ser-rich | |
Tgene | GTF2IRD1 | chr11:64973192 | chr7:73927160 | ENST00000265755 | 1 | 27 | 898_905 | 41.0 | 960.0 | Motif | Nuclear localization signal | |
Tgene | GTF2IRD1 | chr11:64973192 | chr7:73927160 | ENST00000424337 | 1 | 27 | 898_905 | 41.0 | 945.0 | Motif | Nuclear localization signal | |
Tgene | GTF2IRD1 | chr11:64973192 | chr7:73927160 | ENST00000455841 | 1 | 27 | 898_905 | 41.0 | 977.0 | Motif | Nuclear localization signal | |
Tgene | GTF2IRD1 | chr11:64973192 | chr7:73927160 | ENST00000265755 | 1 | 27 | 119_213 | 41.0 | 960.0 | Repeat | Note=GTF2I-like 1 | |
Tgene | GTF2IRD1 | chr11:64973192 | chr7:73927160 | ENST00000265755 | 1 | 27 | 342_436 | 41.0 | 960.0 | Repeat | Note=GTF2I-like 2 | |
Tgene | GTF2IRD1 | chr11:64973192 | chr7:73927160 | ENST00000265755 | 1 | 27 | 556_650 | 41.0 | 960.0 | Repeat | Note=GTF2I-like 3 | |
Tgene | GTF2IRD1 | chr11:64973192 | chr7:73927160 | ENST00000265755 | 1 | 27 | 696_790 | 41.0 | 960.0 | Repeat | Note=GTF2I-like 4 | |
Tgene | GTF2IRD1 | chr11:64973192 | chr7:73927160 | ENST00000265755 | 1 | 27 | 793_887 | 41.0 | 960.0 | Repeat | Note=GTF2I-like 5 | |
Tgene | GTF2IRD1 | chr11:64973192 | chr7:73927160 | ENST00000424337 | 1 | 27 | 119_213 | 41.0 | 945.0 | Repeat | Note=GTF2I-like 1 | |
Tgene | GTF2IRD1 | chr11:64973192 | chr7:73927160 | ENST00000424337 | 1 | 27 | 342_436 | 41.0 | 945.0 | Repeat | Note=GTF2I-like 2 | |
Tgene | GTF2IRD1 | chr11:64973192 | chr7:73927160 | ENST00000424337 | 1 | 27 | 556_650 | 41.0 | 945.0 | Repeat | Note=GTF2I-like 3 | |
Tgene | GTF2IRD1 | chr11:64973192 | chr7:73927160 | ENST00000424337 | 1 | 27 | 696_790 | 41.0 | 945.0 | Repeat | Note=GTF2I-like 4 | |
Tgene | GTF2IRD1 | chr11:64973192 | chr7:73927160 | ENST00000424337 | 1 | 27 | 793_887 | 41.0 | 945.0 | Repeat | Note=GTF2I-like 5 | |
Tgene | GTF2IRD1 | chr11:64973192 | chr7:73927160 | ENST00000455841 | 1 | 27 | 119_213 | 41.0 | 977.0 | Repeat | Note=GTF2I-like 1 | |
Tgene | GTF2IRD1 | chr11:64973192 | chr7:73927160 | ENST00000455841 | 1 | 27 | 342_436 | 41.0 | 977.0 | Repeat | Note=GTF2I-like 2 | |
Tgene | GTF2IRD1 | chr11:64973192 | chr7:73927160 | ENST00000455841 | 1 | 27 | 556_650 | 41.0 | 977.0 | Repeat | Note=GTF2I-like 3 | |
Tgene | GTF2IRD1 | chr11:64973192 | chr7:73927160 | ENST00000455841 | 1 | 27 | 696_790 | 41.0 | 977.0 | Repeat | Note=GTF2I-like 4 | |
Tgene | GTF2IRD1 | chr11:64973192 | chr7:73927160 | ENST00000455841 | 1 | 27 | 793_887 | 41.0 | 977.0 | Repeat | Note=GTF2I-like 5 |
- 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 | CAPN1 | chr11:64973192 | chr7:73927160 | ENST00000279247 | - | 12 | 22 | 598_609 | 451.0 | 715.0 | Calcium binding | Note=3 |
Hgene | CAPN1 | chr11:64973192 | chr7:73927160 | ENST00000279247 | - | 12 | 22 | 628_639 | 451.0 | 715.0 | Calcium binding | Note=4 |
Hgene | CAPN1 | chr11:64973192 | chr7:73927160 | ENST00000524773 | - | 12 | 22 | 598_609 | 451.0 | 715.0 | Calcium binding | Note=3 |
Hgene | CAPN1 | chr11:64973192 | chr7:73927160 | ENST00000524773 | - | 12 | 22 | 628_639 | 451.0 | 715.0 | Calcium binding | Note=4 |
Hgene | CAPN1 | chr11:64973192 | chr7:73927160 | ENST00000527323 | - | 11 | 21 | 598_609 | 451.0 | 715.0 | Calcium binding | Note=3 |
Hgene | CAPN1 | chr11:64973192 | chr7:73927160 | ENST00000527323 | - | 11 | 21 | 628_639 | 451.0 | 715.0 | Calcium binding | Note=4 |
Hgene | CAPN1 | chr11:64973192 | chr7:73927160 | ENST00000533129 | - | 12 | 22 | 598_609 | 451.0 | 715.0 | Calcium binding | Note=3 |
Hgene | CAPN1 | chr11:64973192 | chr7:73927160 | ENST00000533129 | - | 12 | 22 | 628_639 | 451.0 | 715.0 | Calcium binding | Note=4 |
Hgene | CAPN1 | chr11:64973192 | chr7:73927160 | ENST00000533820 | - | 12 | 22 | 598_609 | 451.0 | 715.0 | Calcium binding | Note=3 |
Hgene | CAPN1 | chr11:64973192 | chr7:73927160 | ENST00000533820 | - | 12 | 22 | 628_639 | 451.0 | 715.0 | Calcium binding | Note=4 |
Hgene | CAPN1 | chr11:64973192 | chr7:73927160 | ENST00000279247 | - | 12 | 22 | 541_576 | 451.0 | 715.0 | Domain | EF-hand 1 |
Hgene | CAPN1 | chr11:64973192 | chr7:73927160 | ENST00000279247 | - | 12 | 22 | 585_618 | 451.0 | 715.0 | Domain | EF-hand 2 |
Hgene | CAPN1 | chr11:64973192 | chr7:73927160 | ENST00000279247 | - | 12 | 22 | 615_650 | 451.0 | 715.0 | Domain | EF-hand 3 |
Hgene | CAPN1 | chr11:64973192 | chr7:73927160 | ENST00000279247 | - | 12 | 22 | 680_714 | 451.0 | 715.0 | Domain | EF-hand 4 |
Hgene | CAPN1 | chr11:64973192 | chr7:73927160 | ENST00000524773 | - | 12 | 22 | 541_576 | 451.0 | 715.0 | Domain | EF-hand 1 |
Hgene | CAPN1 | chr11:64973192 | chr7:73927160 | ENST00000524773 | - | 12 | 22 | 585_618 | 451.0 | 715.0 | Domain | EF-hand 2 |
Hgene | CAPN1 | chr11:64973192 | chr7:73927160 | ENST00000524773 | - | 12 | 22 | 615_650 | 451.0 | 715.0 | Domain | EF-hand 3 |
Hgene | CAPN1 | chr11:64973192 | chr7:73927160 | ENST00000524773 | - | 12 | 22 | 680_714 | 451.0 | 715.0 | Domain | EF-hand 4 |
Hgene | CAPN1 | chr11:64973192 | chr7:73927160 | ENST00000527323 | - | 11 | 21 | 541_576 | 451.0 | 715.0 | Domain | EF-hand 1 |
Hgene | CAPN1 | chr11:64973192 | chr7:73927160 | ENST00000527323 | - | 11 | 21 | 585_618 | 451.0 | 715.0 | Domain | EF-hand 2 |
Hgene | CAPN1 | chr11:64973192 | chr7:73927160 | ENST00000527323 | - | 11 | 21 | 615_650 | 451.0 | 715.0 | Domain | EF-hand 3 |
Hgene | CAPN1 | chr11:64973192 | chr7:73927160 | ENST00000527323 | - | 11 | 21 | 680_714 | 451.0 | 715.0 | Domain | EF-hand 4 |
Hgene | CAPN1 | chr11:64973192 | chr7:73927160 | ENST00000533129 | - | 12 | 22 | 541_576 | 451.0 | 715.0 | Domain | EF-hand 1 |
Hgene | CAPN1 | chr11:64973192 | chr7:73927160 | ENST00000533129 | - | 12 | 22 | 585_618 | 451.0 | 715.0 | Domain | EF-hand 2 |
Hgene | CAPN1 | chr11:64973192 | chr7:73927160 | ENST00000533129 | - | 12 | 22 | 615_650 | 451.0 | 715.0 | Domain | EF-hand 3 |
Hgene | CAPN1 | chr11:64973192 | chr7:73927160 | ENST00000533129 | - | 12 | 22 | 680_714 | 451.0 | 715.0 | Domain | EF-hand 4 |
Hgene | CAPN1 | chr11:64973192 | chr7:73927160 | ENST00000533820 | - | 12 | 22 | 541_576 | 451.0 | 715.0 | Domain | EF-hand 1 |
Hgene | CAPN1 | chr11:64973192 | chr7:73927160 | ENST00000533820 | - | 12 | 22 | 585_618 | 451.0 | 715.0 | Domain | EF-hand 2 |
Hgene | CAPN1 | chr11:64973192 | chr7:73927160 | ENST00000533820 | - | 12 | 22 | 615_650 | 451.0 | 715.0 | Domain | EF-hand 3 |
Hgene | CAPN1 | chr11:64973192 | chr7:73927160 | ENST00000533820 | - | 12 | 22 | 680_714 | 451.0 | 715.0 | Domain | EF-hand 4 |
Hgene | CAPN1 | chr11:64973192 | chr7:73927160 | ENST00000279247 | - | 12 | 22 | 355_526 | 451.0 | 715.0 | Region | Note=Domain III |
Hgene | CAPN1 | chr11:64973192 | chr7:73927160 | ENST00000279247 | - | 12 | 22 | 527_542 | 451.0 | 715.0 | Region | Note=Linker |
Hgene | CAPN1 | chr11:64973192 | chr7:73927160 | ENST00000279247 | - | 12 | 22 | 543_713 | 451.0 | 715.0 | Region | Note=Domain IV |
Hgene | CAPN1 | chr11:64973192 | chr7:73927160 | ENST00000524773 | - | 12 | 22 | 355_526 | 451.0 | 715.0 | Region | Note=Domain III |
Hgene | CAPN1 | chr11:64973192 | chr7:73927160 | ENST00000524773 | - | 12 | 22 | 527_542 | 451.0 | 715.0 | Region | Note=Linker |
Hgene | CAPN1 | chr11:64973192 | chr7:73927160 | ENST00000524773 | - | 12 | 22 | 543_713 | 451.0 | 715.0 | Region | Note=Domain IV |
Hgene | CAPN1 | chr11:64973192 | chr7:73927160 | ENST00000527323 | - | 11 | 21 | 355_526 | 451.0 | 715.0 | Region | Note=Domain III |
Hgene | CAPN1 | chr11:64973192 | chr7:73927160 | ENST00000527323 | - | 11 | 21 | 527_542 | 451.0 | 715.0 | Region | Note=Linker |
Hgene | CAPN1 | chr11:64973192 | chr7:73927160 | ENST00000527323 | - | 11 | 21 | 543_713 | 451.0 | 715.0 | Region | Note=Domain IV |
Hgene | CAPN1 | chr11:64973192 | chr7:73927160 | ENST00000533129 | - | 12 | 22 | 355_526 | 451.0 | 715.0 | Region | Note=Domain III |
Hgene | CAPN1 | chr11:64973192 | chr7:73927160 | ENST00000533129 | - | 12 | 22 | 527_542 | 451.0 | 715.0 | Region | Note=Linker |
Hgene | CAPN1 | chr11:64973192 | chr7:73927160 | ENST00000533129 | - | 12 | 22 | 543_713 | 451.0 | 715.0 | Region | Note=Domain IV |
Hgene | CAPN1 | chr11:64973192 | chr7:73927160 | ENST00000533820 | - | 12 | 22 | 355_526 | 451.0 | 715.0 | Region | Note=Domain III |
Hgene | CAPN1 | chr11:64973192 | chr7:73927160 | ENST00000533820 | - | 12 | 22 | 527_542 | 451.0 | 715.0 | Region | Note=Linker |
Hgene | CAPN1 | chr11:64973192 | chr7:73927160 | ENST00000533820 | - | 12 | 22 | 543_713 | 451.0 | 715.0 | Region | Note=Domain IV |
Top |
Fusion Protein-Protein Interaction |
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Gene | PPI interactors |
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Gene | STRING network |
CAPN1 | |
GTF2IRD1 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
Top |
Related Drugs to CAPN1-GTF2IRD1 |
![]() (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Drug | Source | PMID |
Top |
Related Diseases to CAPN1-GTF2IRD1 |
![]() (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Disease | Source | PMID |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |