Visualization of regulatory element with DNMs in transcripts


Visualization of de novo variants in transcripts


Visualization of original de novo CNV set
   There is no corresponding data published yet, we will update it when such data available.
Transcripts
Transcript ID Transcript exon region Coding exon region
ENST00000376916 [[51014856, 51015030], [51015392, 51015547], [51015616, 51015837], [51016183, 51016268], [51017734, 51017947]] [[51014986, 51015030], [51015392, 51015547], [51015616, 51015837], [51016183, 51016268], [51017734, 51017766]]
ENST00000597232 [[51014860, 51015030], [51015392, 51015753]] None
ENST00000389208 [[51014860, 51015030], [51015392, 51015547], [51015616, 51015837], [51015917, 51016067], [51016183, 51016268], [51016528, 51016673], [51017028, 51017142]] [[51014986, 51015030], [51015392, 51015547], [51015616, 51015837], [51015917, 51016067], [51016183, 51016268], [51016528, 51016673], [51017028, 51017080]]
ENST00000601207 [[51014988, 51015030], [51015392, 51015547], [51015616, 51015837], [51016183, 51016268], [51017747, 51017881]] [[51014988, 51015030], [51015392, 51015547], [51015616, 51015822]]
ENST00000601287 [[51015082, 51015547], [51017747, 51017916]] None
ENST00000597030 [[51015417, 51015547], [51015616, 51015837], [51017734, 51017922]] None
ENST00000593569 [[51015900, 51016067], [51016183, 51016268], [51017734, 51017925]] None
ENST00000598657 [[51016029, 51016067], [51016183, 51016268], [51017734, 51017921]] [[51016029, 51016067], [51016183, 51016268], [51017734, 51017766]]
NM_001114598 [[51014856, 51015030], [51015392, 51015547], [51015616, 51015837], [51015917, 51016067], [51016183, 51016268], [51016528, 51016673], [51017028, 51017142]] [[51014986, 51015030], [51015392, 51015547], [51015616, 51015837], [51015917, 51016067], [51016183, 51016268], [51016528, 51016673], [51017028, 51017080]]
NM_001024656 [[51014856, 51015030], [51015392, 51015547], [51015616, 51015837], [51016183, 51016268], [51017734, 51017947]] [[51014986, 51015030], [51015392, 51015547], [51015616, 51015837], [51016183, 51016268], [51017734, 51017766]]
Promoter
Chrom Start End Description
chr19 51017127 51017175 CAGE_peak_2_at_ASPDH_5end
chr19 51017895 51017953 CAGE_peak_1_at_ASPDH_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I050551 50551806 50551865 1.1 [{'connected_gene': 'LRRC4B', 'score': 550.37}, {'connected_gene': 'ASPDH', 'score': 11.82}, {'connected_gene': 'JOSD2', 'score': 11.81}, {'connected_gene': 'LINC01869', 'score': 9.99}, {'connected_gene': 'C19orf48', 'score': 9.99}, {'connected_gene': 'SNORD88C', 'score': 9.99}, {'connected_gene': 'ENSG00000268231', 'score': 0.44}]
chr19 GH19I050459 50459697 50461953 1.12 [{'connected_gene': 'PRR12', 'score': 13.29}, {'connected_gene': 'ASPDH', 'score': 6.88}, {'connected_gene': 'ETFB', 'score': 4.67}, {'connected_gene': 'EMC10', 'score': 0.37}, {'connected_gene': 'MYBPC2', 'score': 0.31}]
chr19 GH19I050496 50496291 50502403 1.65 [{'connected_gene': 'PRR12', 'score': 64.96}, {'connected_gene': 'ENSG00000268047', 'score': 25.82}, {'connected_gene': 'NUP62', 'score': 23.81}, {'connected_gene': 'CTU1', 'score': 22.97}, {'connected_gene': 'POLD1', 'score': 13.26}, {'connected_gene': 'ADM5', 'score': 11.5}, {'connected_gene': 'PTOV1', 'score': 11.49}, {'connected_gene': 'PRMT1', 'score': 11.36}, {'connected_gene': 'AKT1S1', 'score': 11.24}, {'connected_gene': 'PTOV1-AS2', 'score': 11.19}, {'connected_gene': 'SCAF1', 'score': 10.89}, {'connected_gene': 'JOSD2', 'score': 9.84}, {'connected_gene': 'ZNF473', 'score': 9.77}, {'connected_gene': 'ASPDH', 'score': 8.04}, {'connected_gene': 'MYH14', 'score': 4.03}, {'connected_gene': 'MYBPC2', 'score': 2.02}, {'connected_gene': 'LOC100506114', 'score': 0.39}, {'connected_gene': 'EMC10', 'score': 0.34}]
chr19 GH19I050838 50838075 50839688 0.6 [{'connected_gene': 'KLK15', 'score': 555.49}, {'connected_gene': 'KLK2', 'score': 17.12}, {'connected_gene': 'LINC01869', 'score': 11.84}, {'connected_gene': 'C19orf48', 'score': 11.84}, {'connected_gene': 'SNORD88C', 'score': 11.82}, {'connected_gene': 'SNORD88A', 'score': 11.45}, {'connected_gene': 'SNORD88B', 'score': 11.45}, {'connected_gene': 'IL4I1', 'score': 5.6}, {'connected_gene': 'ASPDH', 'score': 4.42}, {'connected_gene': 'LOC105372441', 'score': 0.44}, {'connected_gene': 'KLK3', 'score': 0.37}]
chr19 GH19I050525 50525667 50526753 0.43 [{'connected_gene': 'ASPDH', 'score': 5.09}, {'connected_gene': 'ENSG00000268231', 'score': 0.29}, {'connected_gene': 'LRRC4B', 'score': 0.26}]
chr19 GH19I050524 50524542 50525610 0.31 [{'connected_gene': 'ASPDH', 'score': 8.52}, {'connected_gene': 'ENSG00000268231', 'score': 0.29}, {'connected_gene': 'LRRC4B', 'score': 0.26}]
chr19 GH19I050531 50531224 50531373 0.8 [{'connected_gene': 'ASPDH', 'score': 0.37}, {'connected_gene': 'ENSG00000268231', 'score': 0.31}, {'connected_gene': 'LRRC4B', 'score': 0.28}]
chr19 GH19I050695 50695166 50695581 0.76 [{'connected_gene': 'ASPDH', 'score': 19.0}, {'connected_gene': 'SYT3', 'score': 15.73}, {'connected_gene': 'KCNC3', 'score': 14.8}, {'connected_gene': 'LRRC4B', 'score': 13.31}, {'connected_gene': 'SPACA6P-AS', 'score': 11.36}, {'connected_gene': 'FUZ', 'score': 9.95}, {'connected_gene': 'SHANK1', 'score': 3.95}, {'connected_gene': 'KLK6', 'score': 2.92}, {'connected_gene': 'PIR41386', 'score': 0.44}]
chr19 GH19I050427 50427504 50429669 1.04 [{'connected_gene': 'ASPDH', 'score': 5.94}, {'connected_gene': 'GC19M050432', 'score': 0.77}, {'connected_gene': 'PIR48260', 'score': 0.77}, {'connected_gene': 'SPIB', 'score': 0.44}, {'connected_gene': 'ENSG00000142539', 'score': 0.39}]
chr19 GH19I050507 50507027 50507261 0.51 [{'connected_gene': 'ASPDH', 'score': 6.17}, {'connected_gene': 'KLKP1', 'score': 4.87}, {'connected_gene': 'C19orf81', 'score': 3.63}, {'connected_gene': 'KLK4', 'score': 3.47}, {'connected_gene': 'ACP4', 'score': 1.5}, {'connected_gene': 'SHANK1', 'score': 1.46}, {'connected_gene': 'SYT3', 'score': 1.27}, {'connected_gene': 'JOSD2', 'score': 0.77}, {'connected_gene': 'LOC100506114', 'score': 0.37}]
chr19 GH19I050532 50532041 50535072 0.52 [{'connected_gene': 'ASPDH', 'score': 6.51}, {'connected_gene': 'NOSIP', 'score': 4.74}, {'connected_gene': 'ENSG00000268231', 'score': 0.34}, {'connected_gene': 'LRRC4B', 'score': 0.29}]
chr19 GH19I050529 50529773 50530659 0.31 [{'connected_gene': 'ASPDH', 'score': 8.44}, {'connected_gene': 'KCNC3', 'score': 4.93}, {'connected_gene': 'ENSG00000268231', 'score': 0.31}, {'connected_gene': 'LRRC4B', 'score': 0.28}]
chr19 GH19I050445 50445020 50445350 0.22 [{'connected_gene': 'ASPDH', 'score': 6.4}, {'connected_gene': 'C19orf81', 'score': 2.82}, {'connected_gene': 'KLK4', 'score': 2.07}, {'connected_gene': 'MYBPC2', 'score': 0.39}, {'connected_gene': 'EMC10', 'score': 0.29}]
chr19 GH19I050537 50537824 50537933 1.1 [{'connected_gene': 'ASPDH', 'score': 12.26}, {'connected_gene': 'JOSD2', 'score': 12.23}, {'connected_gene': 'LRRC4B', 'score': 11.99}, {'connected_gene': 'GPR32', 'score': 11.64}, {'connected_gene': 'SNORD88A', 'score': 11.09}, {'connected_gene': 'SNORD88C', 'score': 11.09}, {'connected_gene': 'SNORD88B', 'score': 11.09}, {'connected_gene': 'NAPSA', 'score': 10.66}, {'connected_gene': 'NR1H2', 'score': 10.64}, {'connected_gene': 'C19orf48', 'score': 10.44}, {'connected_gene': 'LINC01869', 'score': 10.44}, {'connected_gene': 'KLK4', 'score': 10.24}, {'connected_gene': 'KLK1', 'score': 10.22}, {'connected_gene': 'KLK15', 'score': 10.21}, {'connected_gene': 'KLK2', 'score': 10.0}, {'connected_gene': 'KLK14', 'score': 9.54}, {'connected_gene': 'ENSG00000268231', 'score': 0.34}]
chr19 GH19I050538 50537079 50537797 0.85 [{'connected_gene': 'ASPDH', 'score': 12.26}, {'connected_gene': 'JOSD2', 'score': 12.23}, {'connected_gene': 'LRRC4B', 'score': 11.99}, {'connected_gene': 'GPR32', 'score': 11.64}, {'connected_gene': 'SNORD88A', 'score': 11.09}, {'connected_gene': 'SNORD88C', 'score': 11.09}, {'connected_gene': 'SNORD88B', 'score': 11.09}, {'connected_gene': 'NAPSA', 'score': 10.66}, {'connected_gene': 'NR1H2', 'score': 10.64}, {'connected_gene': 'C19orf48', 'score': 10.44}, {'connected_gene': 'LINC01869', 'score': 10.44}, {'connected_gene': 'KLK4', 'score': 10.24}, {'connected_gene': 'KLK1', 'score': 10.22}, {'connected_gene': 'KLK15', 'score': 10.21}, {'connected_gene': 'KLK2', 'score': 10.0}, {'connected_gene': 'KLK14', 'score': 9.54}, {'connected_gene': 'ENSG00000268231', 'score': 0.34}]
chr19 GH19I050552 50551884 50552033 0.84 [{'connected_gene': 'ASPDH', 'score': 11.82}, {'connected_gene': 'JOSD2', 'score': 11.81}, {'connected_gene': 'LINC01869', 'score': 9.99}, {'connected_gene': 'C19orf48', 'score': 9.99}, {'connected_gene': 'SNORD88C', 'score': 9.99}, {'connected_gene': 'ENSG00000268231', 'score': 0.44}, {'connected_gene': 'LRRC4B', 'score': 0.37}]
chr19 GH19I050513 50513903 50513962 1.19 [{'connected_gene': 'ASPDH', 'score': 550.77}, {'connected_gene': 'JOSD2', 'score': 0.77}]
chr19 GH19I050515 50513982 50514721 1.42 [{'connected_gene': 'ASPDH', 'score': 560.85}, {'connected_gene': 'JOSD2', 'score': 0.77}]
chr19 GH19I050465 50465312 50467670 0.89 [{'connected_gene': 'ASPDH', 'score': 8.52}, {'connected_gene': 'FAM71E1', 'score': 6.33}, {'connected_gene': 'EMC10', 'score': 0.44}, {'connected_gene': 'MYBPC2', 'score': 0.29}]
chr19 GH19I049941 49941168 49941931 0.63 [{'connected_gene': 'ASPDH', 'score': 5.19}, {'connected_gene': 'MIR4751', 'score': 0.44}, {'connected_gene': 'GC19M049951', 'score': 0.44}, {'connected_gene': 'ENSG00000221125', 'score': 0.44}, {'connected_gene': 'ENSG00000269179', 'score': 0.37}]
chr19 GH19I050494 50494508 50495756 0.64 [{'connected_gene': 'ASPDH', 'score': 7.54}, {'connected_gene': 'LOC100506114', 'score': 0.44}, {'connected_gene': 'EMC10', 'score': 0.37}, {'connected_gene': 'JOSD2', 'score': 0.37}]
chr19 GH19I050718 50718178 50719801 1.5 [{'connected_gene': 'SHANK1', 'score': 554.08}, {'connected_gene': 'CLEC11A', 'score': 15.65}, {'connected_gene': 'SPACA6P-AS', 'score': 11.36}, {'connected_gene': 'FUZ', 'score': 9.95}, {'connected_gene': 'SYT3', 'score': 7.13}, {'connected_gene': 'LRRC4B', 'score': 6.14}, {'connected_gene': 'ASPDH', 'score': 4.48}, {'connected_gene': 'KCNC3', 'score': 2.99}, {'connected_gene': 'PIR41386', 'score': 0.37}]
chr19 GH19I050328 50328644 50334561 2.6 [{'connected_gene': 'KCNC3', 'score': 569.55}, {'connected_gene': 'NR1H2', 'score': 552.63}, {'connected_gene': 'LOC105372437', 'score': 550.77}, {'connected_gene': 'NUP62', 'score': 55.03}, {'connected_gene': 'PRR12', 'score': 50.28}, {'connected_gene': 'POLD1', 'score': 38.82}, {'connected_gene': 'ENSG00000268047', 'score': 25.05}, {'connected_gene': 'PTOV1-AS2', 'score': 23.11}, {'connected_gene': 'SNORD35A', 'score': 19.83}, {'connected_gene': 'CTU1', 'score': 19.51}, {'connected_gene': 'PNKP', 'score': 18.9}, {'connected_gene': 'ZNF473', 'score': 18.27}, {'connected_gene': 'PIH1D1', 'score': 17.86}, {'connected_gene': 'CPT1C', 'score': 15.07}, {'connected_gene': 'NAPSB', 'score': 12.46}, {'connected_gene': 'AKT1S1', 'score': 11.26}, {'connected_gene': 'IRF3', 'score': 11.22}, {'connected_gene': 'SNORD35B', 'score': 10.82}, {'connected_gene': 'MED25', 'score': 10.09}, {'connected_gene': 'ALDH16A1', 'score': 10.06}, {'connected_gene': 'FUZ', 'score': 9.96}, {'connected_gene': 'ADM5', 'score': 9.88}, {'connected_gene': 'PRRG2', 'score': 5.14}, {'connected_gene': 'SYT3', 'score': 3.13}, {'connected_gene': 'LRRC4B', 'score': 2.1}, {'connected_gene': 'ASPDH', 'score': 1.51}, {'connected_gene': 'MYH14', 'score': 1.51}, {'connected_gene': 'IL4I1', 'score': 1.37}, {'connected_gene': 'GPR32', 'score': 1.31}, {'connected_gene': 'SHANK1', 'score': 1.21}]
chr19 GH19I050546 50546544 50548877 0.38 [{'connected_gene': 'GPR32', 'score': 11.71}, {'connected_gene': 'CLEC11A', 'score': 10.85}, {'connected_gene': 'LRRC4B', 'score': 5.01}, {'connected_gene': 'ENSG00000268231', 'score': 0.39}, {'connected_gene': 'ASPDH', 'score': 0.29}]
chr19 GH19I050541 50541081 50543904 0.52 [{'connected_gene': 'GPR32', 'score': 11.71}, {'connected_gene': 'CLEC11A', 'score': 10.84}, {'connected_gene': 'ENSG00000268231', 'score': 0.37}, {'connected_gene': 'LRRC4B', 'score': 0.31}, {'connected_gene': 'ASPDH', 'score': 0.31}]
chr19 GH19I050488 50488201 50492824 1.45 [{'connected_gene': 'SNORD35A', 'score': 45.37}, {'connected_gene': 'POLD1', 'score': 43.54}, {'connected_gene': 'NUP62', 'score': 35.99}, {'connected_gene': 'PTOV1-AS2', 'score': 35.63}, {'connected_gene': 'SNORD35B', 'score': 31.91}, {'connected_gene': 'PRR12', 'score': 26.14}, {'connected_gene': 'IRF3', 'score': 25.47}, {'connected_gene': 'RPS11', 'score': 22.58}, {'connected_gene': 'ENSG00000268047', 'score': 14.29}, {'connected_gene': 'PNKP', 'score': 13.96}, {'connected_gene': 'CTU1', 'score': 13.66}, {'connected_gene': 'ADM5', 'score': 11.5}, {'connected_gene': 'SIGLEC17P', 'score': 10.5}, {'connected_gene': 'ZNF473', 'score': 9.77}, {'connected_gene': 'ASPDH', 'score': 8.85}, {'connected_gene': 'LOC100506114', 'score': 7.24}, {'connected_gene': 'MYBPC2', 'score': 5.12}, {'connected_gene': 'MYH14', 'score': 3.95}, {'connected_gene': 'EMC10', 'score': 0.39}, {'connected_gene': 'JOSD2', 'score': 0.34}]
chr19 GH19I050346 50346075 50349983 1.09 [{'connected_gene': 'NAPSB', 'score': 71.96}, {'connected_gene': 'KCNC3', 'score': 22.81}, {'connected_gene': 'NAPSA', 'score': 12.79}, {'connected_gene': 'POLD1', 'score': 11.81}, {'connected_gene': 'JOSD2', 'score': 11.29}, {'connected_gene': 'ASPDH', 'score': 11.19}, {'connected_gene': 'FAM71E1', 'score': 11.09}, {'connected_gene': 'EMC10', 'score': 11.09}, {'connected_gene': 'KLK2', 'score': 9.56}, {'connected_gene': 'NR1H2', 'score': 0.37}, {'connected_gene': 'LOC105372437', 'score': 0.37}, {'connected_gene': 'ENSG00000269392', 'score': 0.34}]
chr19 GH19I050535 50535864 50536013 0.58 [{'connected_gene': 'JOSD2', 'score': 12.26}, {'connected_gene': 'ASPDH', 'score': 12.26}, {'connected_gene': 'LRRC4B', 'score': 11.99}, {'connected_gene': 'GPR32', 'score': 11.64}, {'connected_gene': 'SNORD88A', 'score': 11.09}, {'connected_gene': 'SNORD88B', 'score': 11.09}, {'connected_gene': 'SNORD88C', 'score': 11.09}, {'connected_gene': 'NAPSA', 'score': 10.66}, {'connected_gene': 'NR1H2', 'score': 10.64}, {'connected_gene': 'C19orf48', 'score': 10.44}, {'connected_gene': 'LINC01869', 'score': 10.44}, {'connected_gene': 'KLK4', 'score': 10.24}, {'connected_gene': 'KLK1', 'score': 10.22}, {'connected_gene': 'KLK15', 'score': 10.21}, {'connected_gene': 'KLK2', 'score': 10.0}, {'connected_gene': 'KLK14', 'score': 9.54}, {'connected_gene': 'ENSG00000268231', 'score': 0.34}]
chr19 GH19I050553 50551264 50551413 0.58 [{'connected_gene': 'JOSD2', 'score': 11.82}, {'connected_gene': 'ASPDH', 'score': 11.82}, {'connected_gene': 'LINC01869', 'score': 9.99}, {'connected_gene': 'C19orf48', 'score': 9.99}, {'connected_gene': 'SNORD88C', 'score': 9.99}, {'connected_gene': 'ENSG00000268231', 'score': 0.44}, {'connected_gene': 'LRRC4B', 'score': 0.37}]
chr19 GH19I050493 50493057 50494129 0.31 [{'connected_gene': 'JOSD2', 'score': 9.87}, {'connected_gene': 'ASPDH', 'score': 7.64}, {'connected_gene': 'LOC100506114', 'score': 0.44}, {'connected_gene': 'EMC10', 'score': 0.37}]
chr19 GH19I050514 50513264 50513413 0.63 [{'connected_gene': 'JOSD2', 'score': 550.77}, {'connected_gene': 'ASPDH', 'score': 550.77}]
chr19 GH19I050510 50510066 50512520 2.28 [{'connected_gene': 'JOSD2', 'score': 557.16}, {'connected_gene': 'NAPSB', 'score': 12.37}, {'connected_gene': 'ASPDH', 'score': 10.42}, {'connected_gene': 'ETFB', 'score': 4.87}, {'connected_gene': 'LOC100506114', 'score': 0.34}]
chr19 GH19I050475 50475384 50477540 2.02 [{'connected_gene': 'FAM71E1', 'score': 550.77}, {'connected_gene': 'EMC10', 'score': 550.77}, {'connected_gene': 'ASPDH', 'score': 7.4}]
chr19 GH19I050482 50482375 50483992 0.2 [{'connected_gene': 'ENSG00000268854', 'score': 550.77}, {'connected_gene': 'GC19P050484', 'score': 550.77}, {'connected_gene': 'NAPSA', 'score': 11.79}, {'connected_gene': 'NR1H2', 'score': 11.75}, {'connected_gene': 'CLEC11A', 'score': 9.7}, {'connected_gene': 'ASPDH', 'score': 6.88}, {'connected_gene': 'GC19P050481', 'score': 0.77}, {'connected_gene': 'EMC10', 'score': 0.44}]
chr19 GH19I050555 50555557 50557526 1.61 [{'connected_gene': 'ENSG00000268231', 'score': 550.77}, {'connected_gene': 'ASPDH', 'score': 16.45}, {'connected_gene': 'JOSD2', 'score': 11.79}, {'connected_gene': 'PTOV1', 'score': 10.58}, {'connected_gene': 'LINC01869', 'score': 9.99}, {'connected_gene': 'C19orf48', 'score': 9.99}, {'connected_gene': 'SNORD88C', 'score': 9.99}, {'connected_gene': 'KLK4', 'score': 5.14}, {'connected_gene': 'C19orf81', 'score': 5.08}, {'connected_gene': 'SYT3', 'score': 2.81}, {'connected_gene': 'ACP4', 'score': 2.29}, {'connected_gene': 'LRRC4B', 'score': 1.67}, {'connected_gene': 'KLK6', 'score': 1.45}]
chr19 GH19I050430 50430080 50434574 2.15 [{'connected_gene': 'GC19M050432', 'score': 550.77}, {'connected_gene': 'MYBPC2', 'score': 550.77}, {'connected_gene': 'ASPDH', 'score': 6.01}, {'connected_gene': 'PIR48260', 'score': 0.44}, {'connected_gene': 'SPIB', 'score': 0.39}]

© 2018 bmi.sjtu.edu.cn. All rights reserved.
浙ICP备18030141号.