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
ENST00000424484 [[45140363, 45140545], [45155347, 45155546], [45158599, 45158692], [45169760, 45169845], [45189793, 45189916], [45189991, 45190146]] None
ENST00000418644 [[45140384, 45140545], [45150064, 45150328], [45153867, 45153991], [45155347, 45155575], [45162773, 45162842], [45163734, 45163805]] [[45155369, 45155575], [45162773, 45162842], [45163734, 45163805]]
ENST00000455805 [[45140384, 45140545], [45155347, 45155546], [45163734, 45163901], [45166594, 45166791], [45169760, 45169783]] [[45155369, 45155546], [45163734, 45163737]]
ENST00000458657 [[45140384, 45140545], [45153867, 45153991], [45155347, 45155575], [45162773, 45162842], [45163734, 45163901], [45166594, 45166791], [45169760, 45169845], [45189793, 45189916], [45189991, 45190064], [45190210, 45190340], [45190433, 45190511], [45190807, 45190889], [45190962, 45191263]] [[45155369, 45155575], [45162773, 45162842], [45163734, 45163901], [45166594, 45166791], [45169760, 45169845], [45189793, 45189916], [45189991, 45190064], [45190210, 45190340], [45190433, 45190511], [45190807, 45190889], [45190962, 45191075]]
ENST00000441519 [[45140393, 45140545], [45155347, 45155575], [45162773, 45162842], [45163734, 45163901], [45166594, 45166791], [45169760, 45169783]] [[45155369, 45155575], [45162773, 45162842], [45163734, 45163901], [45166594, 45166791], [45169760, 45169783]]
ENST00000357508 [[45140393, 45140545], [45155347, 45155575], [45162773, 45162842], [45163734, 45163901], [45166594, 45166791], [45169760, 45169845], [45189793, 45189916], [45189991, 45190340], [45190445, 45190889], [45190962, 45191261]] None
ENST00000535358 [[45140393, 45140545], [45155347, 45155575], [45162773, 45162842], [45163734, 45163901], [45166594, 45166791], [45169760, 45169845], [45189793, 45189916], [45189991, 45190064], [45190210, 45190340], [45190433, 45190511], [45190807, 45190889], [45190962, 45191263]] [[45155369, 45155575], [45162773, 45162842], [45163734, 45163901], [45166594, 45166791], [45169760, 45169845], [45189793, 45189916], [45189991, 45190064], [45190210, 45190340], [45190433, 45190511], [45190807, 45190889], [45190962, 45191075]]
ENST00000445071 [[45140397, 45140545], [45150064, 45150328], [45155347, 45155575], [45162773, 45162842], [45163734, 45163901], [45166594, 45166781]] [[45155369, 45155575], [45162773, 45162842], [45163734, 45163901], [45166594, 45166781]]
ENST00000453711 [[45140426, 45140545], [45154780, 45154896], [45155347, 45155575], [45162773, 45162812]] [[45155369, 45155575], [45162773, 45162812]]
ENST00000421398 [[45140429, 45140545], [45166594, 45166791], [45169760, 45169845], [45189793, 45189916], [45189991, 45190034]] None
ENST00000444751 [[45140451, 45140545], [45155413, 45155546], [45166594, 45166791], [45169760, 45169845], [45189793, 45189916], [45189991, 45190015]] None
ENST00000434068 [[45155505, 45155546], [45166594, 45166791], [45169760, 45169845], [45189793, 45189916], [45190008, 45190052]] [[45155505, 45155546], [45166594, 45166791], [45169760, 45169845], [45189793, 45189916], [45190008, 45190052]]
ENST00000434520 [[45166644, 45166791], [45189793, 45189916], [45189991, 45190051]] None
ENST00000427321 [[45189456, 45189578], [45189793, 45189916], [45189991, 45190099]] None
ENST00000446792 [[45189463, 45189578], [45189656, 45189916], [45189991, 45190050]] None
ENST00000444525 [[45189466, 45189578], [45189793, 45189976]] None
ENST00000440383 [[45189502, 45189578], [45189656, 45190034]] None
ENST00000427336 [[45189515, 45189916], [45189991, 45190052]] None
ENST00000418779 [[45190044, 45190340], [45190433, 45190511], [45190807, 45190889], [45190962, 45191263]] None
ENST00000568406 [[45190178, 45190340], [45190433, 45190511], [45190704, 45190889], [45190962, 45191263]] None
Promoter
Chrom Start End Description
chr1 45140360 45140399 CAGE_peak_2_at_C1orf228_5end
chr1 45140400 45140424 CAGE_peak_3_at_C1orf228_5end
chr1 45189400 45189461 CAGE_peak_1_at_C1orf228_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I043867 43867650 43869398 1.24 [{'connected_gene': 'ARTN', 'score': 18.11}, {'connected_gene': 'IPO13', 'score': 16.54}, {'connected_gene': 'LOC101929609', 'score': 10.86}, {'connected_gene': 'ST3GAL3', 'score': 4.73}, {'connected_gene': 'C1orf228', 'score': 4.5}, {'connected_gene': 'ATP6V0B', 'score': 4.01}, {'connected_gene': 'SZT2', 'score': 1.51}, {'connected_gene': 'GC01M043857', 'score': 0.44}]
chr1 GH01I043823 43823887 43826164 0.2 [{'connected_gene': 'ARTN', 'score': 18.14}, {'connected_gene': 'ST3GAL3', 'score': 15.18}, {'connected_gene': 'LOC101929592', 'score': 10.8}, {'connected_gene': 'IPO13', 'score': 10.28}, {'connected_gene': 'LOC101929609', 'score': 10.28}, {'connected_gene': 'MED8', 'score': 6.47}, {'connected_gene': 'C1orf228', 'score': 4.51}, {'connected_gene': 'GC01P043830', 'score': 0.44}, {'connected_gene': 'ENSG00000233674', 'score': 0.18}]
chr1 GH01I044641 44641622 44647467 0.69 [{'connected_gene': 'ERI3', 'score': 9.84}, {'connected_gene': 'C1orf228', 'score': 7.18}, {'connected_gene': 'PIR47647', 'score': 0.39}, {'connected_gene': 'GC01P044661', 'score': 0.37}, {'connected_gene': 'TMEM53', 'score': 0.29}, {'connected_gene': 'RNF220', 'score': 0.07}]
chr1 GH01I044624 44624692 44626485 0.49 [{'connected_gene': 'ERI3', 'score': 10.78}, {'connected_gene': 'C1orf228', 'score': 5.38}, {'connected_gene': 'PIR47647', 'score': 0.44}, {'connected_gene': 'MIR5584', 'score': 0.18}, {'connected_gene': 'RNF220', 'score': 0.07}]
chr1 GH01I044718 44718921 44719603 0.46 [{'connected_gene': 'UROD', 'score': 8.75}, {'connected_gene': 'GC01M044722', 'score': 0.77}, {'connected_gene': 'LOC105378690', 'score': 0.77}, {'connected_gene': 'RNU5F-1', 'score': 0.77}, {'connected_gene': 'GC01P044699', 'score': 0.37}, {'connected_gene': 'C1orf228', 'score': 0.26}]
chr1 GH01I044635 44635323 44636767 0.43 [{'connected_gene': 'DMAP1', 'score': 9.66}, {'connected_gene': 'C1orf228', 'score': 4.98}, {'connected_gene': 'PIR47647', 'score': 0.44}, {'connected_gene': 'GC01P044661', 'score': 0.31}, {'connected_gene': 'TMEM53', 'score': 0.28}, {'connected_gene': 'RNF220', 'score': 0.07}]
chr1 GH01I044519 44519079 44519348 0.53 [{'connected_gene': 'RNF220', 'score': 22.75}, {'connected_gene': 'ERI3', 'score': 10.29}, {'connected_gene': 'C1orf228', 'score': 1.59}, {'connected_gene': 'MIR5584', 'score': 0.31}]
chr1 GH01I044507 44507109 44508531 0.93 [{'connected_gene': 'RNF220', 'score': 23.52}, {'connected_gene': 'SLC6A9', 'score': 16.93}, {'connected_gene': 'C1orf228', 'score': 2.09}, {'connected_gene': 'PTCH2', 'score': 1.15}, {'connected_gene': 'MIR5584', 'score': 0.28}]
chr1 GH01I044475 44475996 44476215 0.26 [{'connected_gene': 'RNF220', 'score': 16.31}, {'connected_gene': 'SLC6A9', 'score': 12.58}, {'connected_gene': 'C1orf228', 'score': 1.2}, {'connected_gene': 'MIR5584', 'score': 0.2}]
chr1 GH01I044592 44592029 44592742 0.81 [{'connected_gene': 'RNF220', 'score': 18.34}, {'connected_gene': 'DMAP1', 'score': 15.41}, {'connected_gene': 'MUTYH', 'score': 13.39}, {'connected_gene': 'ARTN', 'score': 12.84}, {'connected_gene': 'TOE1', 'score': 11.33}, {'connected_gene': 'ERI3', 'score': 10.39}, {'connected_gene': 'ZSWIM5', 'score': 9.79}, {'connected_gene': 'C1orf228', 'score': 3.03}, {'connected_gene': 'PIR47647', 'score': 0.28}, {'connected_gene': 'MIR5584', 'score': 0.25}]
chr1 GH01I045319 45319465 45322923 0.82 [{'connected_gene': 'PRDX1', 'score': 10.12}, {'connected_gene': 'HMGB1P48', 'score': 10.12}, {'connected_gene': 'CCDC163', 'score': 8.58}, {'connected_gene': 'C1orf228', 'score': 7.54}, {'connected_gene': 'MMACHC', 'score': 4.35}, {'connected_gene': 'HPDL', 'score': 0.44}, {'connected_gene': 'ZSWIM5', 'score': 0.39}]
chr1 GH01I044616 44616581 44620805 1.54 [{'connected_gene': 'MUTYH', 'score': 12.49}, {'connected_gene': 'ARTN', 'score': 12.4}, {'connected_gene': 'KIF2C', 'score': 11.95}, {'connected_gene': 'RNU6-369P', 'score': 10.7}, {'connected_gene': 'DMAP1', 'score': 9.7}, {'connected_gene': 'C1orf228', 'score': 5.9}, {'connected_gene': 'PIR47647', 'score': 0.39}, {'connected_gene': 'MIR5584', 'score': 0.19}, {'connected_gene': 'RNF220', 'score': 0.08}]
chr1 GH01I044706 44706222 44708600 1.26 [{'connected_gene': 'C1orf228', 'score': 11.75}, {'connected_gene': 'TMEM53', 'score': 11.75}, {'connected_gene': 'RNU5D-1', 'score': 11.57}, {'connected_gene': 'KIF2C', 'score': 10.76}, {'connected_gene': 'RNF220', 'score': 8.72}, {'connected_gene': 'GC01P044699', 'score': 0.44}, {'connected_gene': 'GC01M044722', 'score': 0.39}, {'connected_gene': 'RNU5F-1', 'score': 0.39}, {'connected_gene': 'LOC105378690', 'score': 0.37}]
chr1 GH01I044671 44671928 44678273 2.28 [{'connected_gene': 'C1orf228', 'score': 561.64}, {'connected_gene': 'TMEM53', 'score': 550.77}, {'connected_gene': 'TOE1', 'score': 24.56}, {'connected_gene': 'MUTYH', 'score': 20.51}, {'connected_gene': 'ARTN', 'score': 11.9}, {'connected_gene': 'RNU5F-1', 'score': 11.62}, {'connected_gene': 'NASP', 'score': 11.41}, {'connected_gene': 'KIF2C', 'score': 10.45}, {'connected_gene': 'BTBD19', 'score': 5.43}, {'connected_gene': 'RPS8', 'score': 4.11}, {'connected_gene': 'GC01P044699', 'score': 0.34}]
chr1 GH01I044654 44654342 44657739 0.67 [{'connected_gene': 'C1orf228', 'score': 5.96}, {'connected_gene': 'RNF220', 'score': 4.39}, {'connected_gene': 'GC01P044661', 'score': 0.44}, {'connected_gene': 'TMEM53', 'score': 0.37}, {'connected_gene': 'PIR47647', 'score': 0.31}]
chr1 GH01I044408 44408329 44409085 0.82 [{'connected_gene': 'C1orf228', 'score': 5.52}, {'connected_gene': 'RNF220', 'score': 0.77}, {'connected_gene': 'MIR5584', 'score': 0.12}]
chr1 GH01I044648 44648667 44648850 0.2 [{'connected_gene': 'C1orf228', 'score': 10.92}, {'connected_gene': 'RNU5F-1', 'score': 10.44}, {'connected_gene': 'GC01P044661', 'score': 0.39}, {'connected_gene': 'PIR47647', 'score': 0.37}, {'connected_gene': 'TMEM53', 'score': 0.31}, {'connected_gene': 'RNF220', 'score': 0.07}]
chr1 GH01I044649 44649637 44650928 0.69 [{'connected_gene': 'C1orf228', 'score': 10.95}, {'connected_gene': 'RNU5F-1', 'score': 10.44}, {'connected_gene': 'GC01P044661', 'score': 0.39}, {'connected_gene': 'PIR47647', 'score': 0.37}, {'connected_gene': 'TMEM53', 'score': 0.34}, {'connected_gene': 'RNF220', 'score': 0.07}]
chr1 GH01I044694 44694989 44695138 0.63 [{'connected_gene': 'C1orf228', 'score': 12.2}, {'connected_gene': 'RNU5F-1', 'score': 12.17}, {'connected_gene': 'TMEM53', 'score': 12.17}, {'connected_gene': 'GC01P044699', 'score': 0.77}, {'connected_gene': 'LOC105378690', 'score': 0.31}]
chr1 GH01I044696 44696318 44698333 0.82 [{'connected_gene': 'C1orf228', 'score': 12.76}, {'connected_gene': 'RNU5F-1', 'score': 12.76}, {'connected_gene': 'TMEM53', 'score': 12.23}, {'connected_gene': 'GC01P044699', 'score': 0.77}, {'connected_gene': 'LOC105378690', 'score': 0.31}]
chr1 GH01I044653 44652057 44652915 0.81 [{'connected_gene': 'C1orf228', 'score': 11.02}, {'connected_gene': 'RNU5F-1', 'score': 10.88}, {'connected_gene': 'GC01P044661', 'score': 0.44}, {'connected_gene': 'PIR47647', 'score': 0.34}, {'connected_gene': 'TMEM53', 'score': 0.34}]
chr1 GH01I044681 44681808 44682810 0.93 [{'connected_gene': 'C1orf228', 'score': 0.44}, {'connected_gene': 'GC01P044699', 'score': 0.37}]
chr1 GH01I044664 44664601 44665000 0.43 [{'connected_gene': 'RNU5F-1', 'score': 10.93}, {'connected_gene': 'ERI3', 'score': 9.88}, {'connected_gene': 'DMAP1', 'score': 9.3}, {'connected_gene': 'C1orf228', 'score': 5.19}, {'connected_gene': 'GC01P044661', 'score': 0.77}, {'connected_gene': 'TMEM53', 'score': 0.44}]
chr1 GH01I044670 44670121 44671689 0.2 [{'connected_gene': 'RNU5F-1', 'score': 10.52}, {'connected_gene': 'C1orf228', 'score': 8.65}, {'connected_gene': 'TMEM53', 'score': 0.77}, {'connected_gene': 'GC01P044661', 'score': 0.44}]
chr1 GH01I044693 44693349 44693418 0.49 [{'connected_gene': 'RNU5F-1', 'score': 12.17}, {'connected_gene': 'GC01P044699', 'score': 0.44}, {'connected_gene': 'C1orf228', 'score': 0.37}, {'connected_gene': 'LOC105378690', 'score': 0.29}]
chr1 GH01I044689 44689269 44689418 0.56 [{'connected_gene': 'RNU5F-1', 'score': 11.87}, {'connected_gene': 'GC01P044699', 'score': 0.39}, {'connected_gene': 'C1orf228', 'score': 0.39}, {'connected_gene': 'LOC105378690', 'score': 0.29}]
chr1 GH01I044683 44683860 44685429 0.71 [{'connected_gene': 'RNU5F-1', 'score': 11.85}, {'connected_gene': 'C1orf228', 'score': 9.31}, {'connected_gene': 'GC01P044699', 'score': 0.37}]
chr1 GH01I044712 44712653 44714139 0.76 [{'connected_gene': 'BEST4', 'score': 6.41}, {'connected_gene': 'GC01M044722', 'score': 0.44}, {'connected_gene': 'RNU5F-1', 'score': 0.44}, {'connected_gene': 'GC01P044699', 'score': 0.39}, {'connected_gene': 'LOC105378690', 'score': 0.39}, {'connected_gene': 'C1orf228', 'score': 0.28}]
chr1 GH01I044714 44714569 44715617 0.96 [{'connected_gene': 'BEST4', 'score': 6.24}, {'connected_gene': 'GC01M044722', 'score': 0.44}, {'connected_gene': 'LOC105378690', 'score': 0.44}, {'connected_gene': 'RNU5F-1', 'score': 0.44}, {'connected_gene': 'GC01P044699', 'score': 0.37}, {'connected_gene': 'C1orf228', 'score': 0.26}]
chr1 GH01I043884 43884165 43886129 0.74 [{'connected_gene': 'CCDC24', 'score': 16.58}, {'connected_gene': 'PTCH2', 'score': 10.61}, {'connected_gene': 'ARTN', 'score': 10.33}, {'connected_gene': 'DPH2', 'score': 9.54}, {'connected_gene': 'LOC101929592', 'score': 7.23}, {'connected_gene': 'C1orf228', 'score': 4.54}, {'connected_gene': 'GC01M043857', 'score': 0.31}, {'connected_gene': 'ST3GAL3', 'score': 0.1}]
chr1 GH01I044746 44746364 44746423 0.5 [{'connected_gene': 'KIF2C', 'score': 550.44}, {'connected_gene': 'ENSG00000225721', 'score': 11.98}, {'connected_gene': 'RPS8', 'score': 11.98}, {'connected_gene': 'SNORD46', 'score': 11.96}, {'connected_gene': 'SNORD38A', 'score': 11.96}, {'connected_gene': 'RNU5F-1', 'score': 11.38}, {'connected_gene': 'PLK3', 'score': 11.27}, {'connected_gene': 'TCTEX1D4', 'score': 11.25}, {'connected_gene': 'BTBD19', 'score': 11.25}, {'connected_gene': 'C1orf228', 'score': 11.24}, {'connected_gene': 'BEST4', 'score': 11.16}]
chr1 GH01I044621 44621330 44622857 0.63 [{'connected_gene': 'RNU6-369P', 'score': 10.69}, {'connected_gene': 'C1orf228', 'score': 4.93}, {'connected_gene': 'PIR47647', 'score': 0.44}, {'connected_gene': 'MIR5584', 'score': 0.18}, {'connected_gene': 'RNF220', 'score': 0.08}]
chr1 GH01I045302 45302843 45305532 1.61 [{'connected_gene': 'LOC105378691', 'score': 550.77}, {'connected_gene': 'LINC01144', 'score': 550.77}, {'connected_gene': 'MUTYH', 'score': 17.44}, {'connected_gene': 'ZSWIM5', 'score': 15.11}, {'connected_gene': 'CCDC163', 'score': 11.35}, {'connected_gene': 'LURAP1', 'score': 10.75}, {'connected_gene': 'C1orf228', 'score': 4.21}]
chr1 GH01I043799 43799517 43801406 0.93 [{'connected_gene': 'LOC101929592', 'score': 17.36}, {'connected_gene': 'ST3GAL3', 'score': 11.78}, {'connected_gene': 'KDM4A-AS1', 'score': 10.59}, {'connected_gene': 'ATP6V0B', 'score': 10.16}, {'connected_gene': 'ARTN', 'score': 7.2}, {'connected_gene': 'KDM4A', 'score': 6.53}, {'connected_gene': 'C1orf228', 'score': 4.51}, {'connected_gene': 'CDC20', 'score': 3.73}, {'connected_gene': 'MED8', 'score': 1.56}, {'connected_gene': 'SZT2', 'score': 1.48}, {'connected_gene': 'GC01P043830', 'score': 0.31}, {'connected_gene': 'ENSG00000233674', 'score': 0.22}]
chr1 GH01I044077 44077298 44078917 0.31 [{'connected_gene': 'ENSG00000230615', 'score': 8.18}, {'connected_gene': 'DPH2', 'score': 6.59}, {'connected_gene': 'C1orf228', 'score': 4.04}, {'connected_gene': 'ENSG00000227163', 'score': 0.39}, {'connected_gene': 'KLF17', 'score': 0.29}]
chr1 GH01I044628 44628174 44634784 1.78 [{'connected_gene': 'PIR47647', 'score': 550.77}, {'connected_gene': 'TOE1', 'score': 32.63}, {'connected_gene': 'DMAP1', 'score': 30.7}, {'connected_gene': 'KDM4A', 'score': 23.28}, {'connected_gene': 'C1orf228', 'score': 18.2}, {'connected_gene': 'HECTD3', 'score': 17.93}, {'connected_gene': 'RPS8', 'score': 12.76}, {'connected_gene': 'MUTYH', 'score': 12.38}, {'connected_gene': 'CCDC17', 'score': 11.51}, {'connected_gene': 'ARTN', 'score': 10.78}, {'connected_gene': 'RNU5F-1', 'score': 10.63}, {'connected_gene': 'ERI3', 'score': 10.25}, {'connected_gene': 'NASP', 'score': 9.96}, {'connected_gene': 'KDM4A-AS1', 'score': 9.88}, {'connected_gene': 'RNF220', 'score': 9.57}, {'connected_gene': 'GC01P044661', 'score': 0.29}]
chr1 GH01I044720 44720407 44725200 1.53 [{'connected_gene': 'GC01M044722', 'score': 550.77}, {'connected_gene': 'LOC105378690', 'score': 550.77}, {'connected_gene': 'RNU5F-1', 'score': 550.77}, {'connected_gene': 'TOE1', 'score': 73.4}, {'connected_gene': 'GPBP1L1', 'score': 67.94}, {'connected_gene': 'RPS8', 'score': 52.09}, {'connected_gene': 'RPL7AP16', 'score': 49.13}, {'connected_gene': 'MUTYH', 'score': 46.21}, {'connected_gene': 'HECTD3', 'score': 41.19}, {'connected_gene': 'DMAP1', 'score': 27.87}, {'connected_gene': 'RPS15AP10', 'score': 22.16}, {'connected_gene': 'SNORD38B', 'score': 11.59}, {'connected_gene': 'RPS15AP11', 'score': 11.59}, {'connected_gene': 'UROD', 'score': 10.66}, {'connected_gene': 'LOC101929609', 'score': 10.47}, {'connected_gene': 'RNF220', 'score': 10.2}, {'connected_gene': 'TMEM69', 'score': 10.06}, {'connected_gene': 'C1orf228', 'score': 8.88}, {'connected_gene': 'BEST4', 'score': 5.47}, {'connected_gene': 'CCDC163', 'score': 4.9}, {'connected_gene': 'BTBD19', 'score': 4.48}]

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