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
ENST00000561030 [[77906011, 77908242], [77969430, 77969516], [77983061, 77983243], [77988312, 77988490]] [[77906385, 77908230]]
ENST00000561686 [[77907694, 77908242], [77983061, 77983243], [78027333, 78027395], [78079210, 78079356]] [[77907694, 77908230]]
ENST00000567726 [[77907854, 77908242], [77969430, 77969516], [77999735, 77999849]] [[77907854, 77908230]]
ENST00000566711 [[77908014, 77908242], [77969430, 77969516], [78088280, 78088395], [78111612, 78111794]] [[77908014, 77908230]]
ENST00000559893 [[77908063, 77908242], [77969430, 77969516], [77983061, 77983243], [77988732, 77988837]] [[77908063, 77908230]]
ENST00000564472 [[77908123, 77908242], [77969430, 77969516], [77983061, 77983243], [78012958, 78013093]] [[77908123, 77908230]]
ENST00000570216 [[77908174, 77908242], [77969430, 77969516], [77983061, 77983243], [78027333, 78027395], [78088280, 78088395], [78113184, 78113242]] [[77908174, 77908230]]
ENST00000562933 [[77908195, 77908242], [77969430, 77969516], [77983061, 77983243], [78027333, 78027395], [78088280, 78088395], [78112599, 78112674]] [[77908195, 77908230]]
ENST00000563316 [[77908218, 77908242], [77969430, 77969516], [77983061, 77983243], [78027333, 78027395], [78088280, 78088395], [78113128, 78113213]] [[77908218, 77908230]]
ENST00000567605 [[77969448, 77969516], [77983061, 77983243], [78027333, 78027395], [78088280, 78088395], [78111612, 78111870]] None
ENST00000568951 [[77969450, 77969516], [77983061, 77983243], [78027333, 78027395], [78088280, 78088395], [78113120, 78113196]] None
ENST00000564066 [[77969497, 77969516], [77983061, 77983243], [78027333, 78027395], [78088280, 78088395], [78112375, 78112566]] None
ENST00000355300 [[77905368, 77908242], [77924651, 77924832]] [[77906385, 77908242], [77924651, 77924657]]
ENST00000557798 [[77907285, 77908242], [77926617, 77926695]] [[77907285, 77908242], [77926617, 77926638]]
NM_001301200 [[77905365, 77908242], [77969430, 77969516], [77983061, 77983243], [77988312, 77988490]] [[77906385, 77908230]]
NM_001301199 [[77905365, 77908242], [77969430, 77969516], [77983061, 77983243], [77988732, 77988837]] [[77906385, 77908230]]
NM_001301198 [[77905365, 77908242], [77969430, 77969516], [77999735, 77999849]] [[77906385, 77908230]]
NM_001301197 [[77905365, 77908242], [77969430, 77969516], [77983061, 77983243], [78012958, 78013093]] [[77906385, 77908230]]
NM_001301195 [[77905365, 77908242], [77983061, 77983243], [78027333, 78027395], [78079210, 78079356]] [[77906385, 77908230]]
NM_001301191 [[77905365, 77908242], [77969430, 77969516], [77983061, 77983243], [78027333, 78027395], [78088280, 78088395], [78111612, 78111866]] [[77906385, 77908230]]
NM_001301192 [[77905365, 77908242], [77969430, 77969516], [77983061, 77983243], [78088280, 78088395], [78111612, 78111866]] [[77906385, 77908230]]
NM_001301194 [[77905365, 77908242], [77969430, 77969516], [78088280, 78088395], [78111612, 78111866]] [[77906385, 77908230]]
NM_001301189 [[77905365, 77908242], [77969430, 77969516], [77983061, 77983243], [78027333, 78027395], [78088280, 78088395], [78112375, 78112444]] [[77906385, 77908230]]
NM_001301187 [[77905365, 77908242], [77969430, 77969516], [77983061, 77983243], [78027333, 78027395], [78088280, 78088395], [78112599, 78112674]] [[77906385, 77908230]]
NM_001301186 [[77905365, 77908242], [77969430, 77969516], [77983061, 77983243], [78027333, 78027395], [78088280, 78088395], [78113184, 78113242]] [[77906385, 77908230]]
NM_032808 [[77905365, 77908242], [77924651, 77924869]] [[77906385, 77908242], [77924651, 77924657]]
Promoter
Chrom Start End Description
chr15 77906899 77906910 CAGE_peak_21_at_LINGO1_5end
chr15 77907249 77907288 CAGE_peak_9_at_LINGO1_5end
chr15 77907545 77907560 CAGE_peak_4_at_LINGO1_5end
chr15 77907614 77907624 CAGE_peak_17_at_LINGO1_5end
chr15 77907723 77907735 CAGE_peak_13_at_LINGO1_5end
chr15 77907829 77907849 CAGE_peak_11_at_LINGO1_5end
chr15 77907867 77907879 CAGE_peak_12_at_LINGO1_5end
chr15 77907974 77907985 CAGE_peak_8_at_LINGO1_5end
chr15 77908039 77908050 CAGE_peak_14_at_LINGO1_5end
chr15 77924689 77924711 CAGE_peak_3_at_LINGO1_5end
chr15 77925170 77925181 CAGE_peak_6_at_LINGO1_5end
chr15 77925182 77925210 CAGE_peak_2_at_LINGO1_5end
chr15 77925211 77925290 CAGE_peak_1_at_LINGO1_5end
chr15 77925296 77925307 CAGE_peak_5_at_LINGO1_5end
chr15 77988462 77988479 CAGE_peak_15_at_LINGO1_5end
chr15 77988485 77988494 CAGE_peak_27_at_LINGO1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr15 GH15I077817 77817620 77820756 1.36 [{'connected_gene': 'LINGO1', 'score': 581.74}, {'connected_gene': 'ENSG00000259213', 'score': 9.75}, {'connected_gene': 'LOC645752', 'score': 4.52}, {'connected_gene': 'ACSBG1', 'score': 4.14}, {'connected_gene': 'HMG20A', 'score': 1.96}, {'connected_gene': 'DNAJA4', 'score': 1.12}, {'connected_gene': 'GC15M077805', 'score': 0.39}]
chr15 GH15I077672 77672372 77675352 0.43 [{'connected_gene': 'LINGO1', 'score': 6.19}, {'connected_gene': 'LOC645752', 'score': 5.25}, {'connected_gene': 'HMG20A', 'score': 4.15}, {'connected_gene': 'LINGO1-AS2', 'score': 0.39}, {'connected_gene': 'ENSG00000280359', 'score': 0.14}]
chr15 GH15I077822 77822295 77822609 0.34 [{'connected_gene': 'LINGO1', 'score': 557.81}, {'connected_gene': 'ACSBG1', 'score': 3.74}, {'connected_gene': 'GC15P077854', 'score': 0.29}]
chr15 GH15I077630 77630734 77634668 2.25 [{'connected_gene': 'LINGO1', 'score': 550.09}, {'connected_gene': 'ENSG00000259562', 'score': 18.58}, {'connected_gene': 'ENSG00000259322', 'score': 11.71}, {'connected_gene': 'HMG20A', 'score': 10.84}, {'connected_gene': 'IREB2', 'score': 9.75}, {'connected_gene': 'LINGO1-AS1', 'score': 5.22}, {'connected_gene': 'PEAK1', 'score': 4.22}, {'connected_gene': 'GC15P077635', 'score': 0.77}, {'connected_gene': 'PIR57145', 'score': 0.21}]
chr15 GH15I077178 77178852 77183455 0.97 [{'connected_gene': 'LINGO1', 'score': 10.77}, {'connected_gene': 'HMG20A', 'score': 10.75}, {'connected_gene': 'TSPAN3', 'score': 10.47}, {'connected_gene': 'PEAK1', 'score': 8.24}, {'connected_gene': 'LOC101929457', 'score': 7.77}, {'connected_gene': 'HMGN1P27', 'score': 0.34}, {'connected_gene': 'GC15M077111', 'score': 0.19}, {'connected_gene': 'PIR35714', 'score': 0.19}]
chr15 GH15I077745 77745123 77745439 0.25 [{'connected_gene': 'LINGO1', 'score': 1.84}, {'connected_gene': 'ENSG00000280359', 'score': 0.28}, {'connected_gene': 'LINGO1-AS2', 'score': 0.17}]
chr15 GH15I077738 77738928 77739568 0.95 [{'connected_gene': 'LINGO1', 'score': 2.31}, {'connected_gene': 'ENSG00000280359', 'score': 0.25}, {'connected_gene': 'LINGO1-AS2', 'score': 0.18}]
chr15 GH15I077728 77728870 77730965 0.38 [{'connected_gene': 'LINGO1', 'score': 11.77}, {'connected_gene': 'ENSG00000280359', 'score': 0.22}, {'connected_gene': 'LINGO1-AS2', 'score': 0.2}]
chr15 GH15I077697 77696138 77696197 0.96 [{'connected_gene': 'LINGO1', 'score': 550.13}, {'connected_gene': 'LINGO1-AS2', 'score': 0.28}, {'connected_gene': 'ENSG00000280359', 'score': 0.17}]
chr15 GH15I077702 77702619 77702768 0.92 [{'connected_gene': 'LINGO1', 'score': 10.81}, {'connected_gene': 'LINGO1-AS2', 'score': 0.26}, {'connected_gene': 'ENSG00000280359', 'score': 0.18}]
chr15 GH15I077654 77654083 77659837 0.73 [{'connected_gene': 'LINGO1', 'score': 12.59}, {'connected_gene': 'LOC101929457', 'score': 6.8}, {'connected_gene': 'LINGO1-AS1', 'score': 4.9}, {'connected_gene': 'LINGO1-AS2', 'score': 0.77}]
chr15 GH15I077606 77606739 77608449 1.16 [{'connected_gene': 'LINGO1', 'score': 12.48}, {'connected_gene': 'LOC101929457', 'score': 9.23}, {'connected_gene': 'GC15P077635', 'score': 0.31}, {'connected_gene': 'LOC105370906', 'score': 0.28}, {'connected_gene': 'PIR57145', 'score': 0.28}]
chr15 GH15I077539 77539819 77539948 0.51 [{'connected_gene': 'LINGO1', 'score': 10.69}, {'connected_gene': 'TSPAN3', 'score': 10.53}, {'connected_gene': 'LOC101929457', 'score': 0.39}, {'connected_gene': 'LOC105370906', 'score': 0.31}]
chr15 GH15I077821 77821447 77821718 0.93 [{'connected_gene': 'LINGO1', 'score': 555.12}, {'connected_gene': 'ENSG00000259213', 'score': 5.97}, {'connected_gene': 'GC15P077854', 'score': 0.29}]
chr15 GH15I077829 77829854 77830743 0.68 [{'connected_gene': 'LOC645752', 'score': 6.79}, {'connected_gene': 'LINGO1', 'score': 0.44}, {'connected_gene': 'GC15P077854', 'score': 0.34}]
chr15 GH15I077671 77671757 77672076 0.73 [{'connected_gene': 'LOC645752', 'score': 5.25}, {'connected_gene': 'LINGO1-AS2', 'score': 0.39}, {'connected_gene': 'ENSG00000280359', 'score': 0.14}, {'connected_gene': 'LINGO1', 'score': 0.11}]
chr15 GH15I077696 77696218 77701626 0.56 [{'connected_gene': 'LOC645752', 'score': 9.79}, {'connected_gene': 'ENSG00000259213', 'score': 4.72}, {'connected_gene': 'LINGO1-AS2', 'score': 0.28}, {'connected_gene': 'ENSG00000280359', 'score': 0.17}, {'connected_gene': 'LINGO1', 'score': 0.13}]
chr15 GH15I077710 77710969 77713283 0.31 [{'connected_gene': 'LOC645752', 'score': 4.87}, {'connected_gene': 'ENSG00000259213', 'score': 4.64}, {'connected_gene': 'LINGO1-AS2', 'score': 0.23}, {'connected_gene': 'ENSG00000280359', 'score': 0.19}, {'connected_gene': 'LINGO1', 'score': 0.14}]
chr15 GH15I077619 77619647 77621221 0.73 [{'connected_gene': 'LOC645752', 'score': 8.18}, {'connected_gene': 'LOC101929457', 'score': 5.7}, {'connected_gene': 'ENSG00000269951', 'score': 4.75}, {'connected_gene': 'GC15P077635', 'score': 0.37}, {'connected_gene': 'PIR57145', 'score': 0.23}, {'connected_gene': 'LINGO1', 'score': 0.08}]
chr15 GH15I077642 77642180 77646451 0.73 [{'connected_gene': 'LINGO1-AS1', 'score': 7.07}, {'connected_gene': 'HMG20A', 'score': 5.48}, {'connected_gene': 'GC15P077635', 'score': 0.44}, {'connected_gene': 'LINGO1-AS2', 'score': 0.37}, {'connected_gene': 'LINGO1', 'score': 0.1}]
chr15 GH15I077650 77650439 77650588 0.57 [{'connected_gene': 'LINGO1-AS1', 'score': 4.74}, {'connected_gene': 'LINGO1-AS2', 'score': 0.44}, {'connected_gene': 'GC15P077635', 'score': 0.39}, {'connected_gene': 'LINGO1', 'score': 0.09}]
chr15 GH15I077664 77664099 77664228 0.66 [{'connected_gene': 'TBC1D2B', 'score': 14.9}, {'connected_gene': 'IREB2', 'score': 12.57}, {'connected_gene': 'ENSG00000259562', 'score': 10.71}, {'connected_gene': 'PSMA4', 'score': 10.68}, {'connected_gene': 'LINGO1-AS2', 'score': 0.77}, {'connected_gene': 'ENSG00000280359', 'score': 0.13}, {'connected_gene': 'LINGO1', 'score': 0.1}]
chr15 GH15I077714 77714526 77715741 0.52 [{'connected_gene': 'LINGO1-AS2', 'score': 0.22}, {'connected_gene': 'ENSG00000280359', 'score': 0.2}, {'connected_gene': 'LINGO1', 'score': 0.14}]
chr15 GH15I077722 77722868 77725649 0.52 [{'connected_gene': 'LINGO1-AS2', 'score': 0.21}, {'connected_gene': 'ENSG00000280359', 'score': 0.21}, {'connected_gene': 'LINGO1', 'score': 0.15}]
chr15 GH15I077705 77705916 77708829 0.38 [{'connected_gene': 'LINGO1-AS2', 'score': 0.25}, {'connected_gene': 'ENSG00000280359', 'score': 0.18}, {'connected_gene': 'LINGO1', 'score': 0.14}]
chr15 GH15I077708 77708922 77710440 0.43 [{'connected_gene': 'LINGO1-AS2', 'score': 0.25}, {'connected_gene': 'ENSG00000280359', 'score': 0.18}, {'connected_gene': 'LINGO1', 'score': 0.14}]
chr15 GH15I077713 77713542 77714480 0.46 [{'connected_gene': 'LINGO1-AS2', 'score': 0.23}, {'connected_gene': 'ENSG00000280359', 'score': 0.19}, {'connected_gene': 'LINGO1', 'score': 0.14}]
chr15 GH15I077719 77719216 77720860 0.54 [{'connected_gene': 'LINGO1-AS2', 'score': 0.22}, {'connected_gene': 'ENSG00000280359', 'score': 0.2}, {'connected_gene': 'LINGO1', 'score': 0.15}]
chr15 GH15I077668 77668661 77669822 0.52 [{'connected_gene': 'LINGO1-AS2', 'score': 0.44}, {'connected_gene': 'ENSG00000280359', 'score': 0.13}, {'connected_gene': 'LINGO1', 'score': 0.1}]
chr15 GH15I077588 77588297 77591152 0.67 [{'connected_gene': 'LOC101929457', 'score': 12.8}, {'connected_gene': 'LINGO1', 'score': 11.57}, {'connected_gene': 'LOC105370906', 'score': 0.34}, {'connected_gene': 'PIR57145', 'score': 0.34}, {'connected_gene': 'GC15P077635', 'score': 0.25}]
chr15 GH15I077617 77617200 77617734 0.59 [{'connected_gene': 'LOC101929457', 'score': 9.22}, {'connected_gene': 'GC15P077635', 'score': 0.37}, {'connected_gene': 'PIR57145', 'score': 0.25}, {'connected_gene': 'LINGO1', 'score': 0.08}]
chr15 GH15I077537 77537351 77539577 1.06 [{'connected_gene': 'LOC101929457', 'score': 21.98}, {'connected_gene': 'PEAK1', 'score': 11.24}, {'connected_gene': 'LINGO1', 'score': 10.69}, {'connected_gene': 'TSPAN3', 'score': 10.52}, {'connected_gene': 'LOC105370906', 'score': 0.29}]
chr15 GH15I077540 77540681 77544108 1.39 [{'connected_gene': 'LOC101929457', 'score': 19.65}, {'connected_gene': 'IREB2', 'score': 17.92}, {'connected_gene': 'PSMA4', 'score': 12.27}, {'connected_gene': 'LINGO1', 'score': 10.69}, {'connected_gene': 'PEAK1', 'score': 10.6}, {'connected_gene': 'TSPAN3', 'score': 10.53}, {'connected_gene': 'HMG20A', 'score': 8.41}, {'connected_gene': 'LOC105370906', 'score': 0.31}]
chr15 GH15I077009 77009652 77024283 1.25 [{'connected_gene': 'TSPAN3', 'score': 13.06}, {'connected_gene': 'SCAPER', 'score': 10.07}, {'connected_gene': 'ISL2', 'score': 7.79}, {'connected_gene': 'LINGO1', 'score': 4.22}, {'connected_gene': 'ENSG00000259514', 'score': 4.2}, {'connected_gene': 'PSTPIP1', 'score': 0.34}, {'connected_gene': 'LOC105370905', 'score': 0.34}]
chr15 GH15I077753 77753399 77753528 0.64 [{'connected_gene': 'ENSG00000280359', 'score': 0.29}, {'connected_gene': 'LINGO1', 'score': 0.2}, {'connected_gene': 'LINGO1-AS2', 'score': 0.16}]
chr15 GH15I077742 77742020 77743900 0.31 [{'connected_gene': 'ENSG00000280359', 'score': 0.26}, {'connected_gene': 'LINGO1', 'score': 0.18}, {'connected_gene': 'LINGO1-AS2', 'score': 0.18}]
chr15 GH15I077858 77858700 77860828 0.66 [{'connected_gene': 'ENSG00000259213', 'score': 12.04}, {'connected_gene': 'LINGO1', 'score': 11.39}, {'connected_gene': 'GC15P077854', 'score': 0.44}, {'connected_gene': 'CSPG4P13', 'score': 0.37}]
chr15 GH15I077850 77850985 77852882 0.56 [{'connected_gene': 'ENSG00000259213', 'score': 13.33}, {'connected_gene': 'GC15P077854', 'score': 0.77}, {'connected_gene': 'LINGO1', 'score': 0.29}]
chr15 GH15I077785 77785059 77785168 0.69 [{'connected_gene': 'ENSG00000280359', 'score': 550.77}, {'connected_gene': 'ENSG00000259213', 'score': 0.77}, {'connected_gene': 'LINGO1', 'score': 0.28}]
chr15 GH15I077629 77629565 77630040 0.56 [{'connected_gene': 'GC15P077635', 'score': 0.44}, {'connected_gene': 'PIR57145', 'score': 0.21}, {'connected_gene': 'LINGO1', 'score': 0.08}]
chr15 GH15I077836 77836519 77836668 0.54 [{'connected_gene': 'GC15P077854', 'score': 0.37}, {'connected_gene': 'LINGO1', 'score': 0.37}]
chr15 GH15I077627 77627044 77628270 0.69 [{'connected_gene': 'ENSG00000259562', 'score': 19.13}, {'connected_gene': 'WDR61', 'score': 13.98}, {'connected_gene': 'ENSG00000260988', 'score': 12.68}, {'connected_gene': 'IREB2', 'score': 10.84}, {'connected_gene': 'PEAK1', 'score': 6.64}, {'connected_gene': 'GC15P077635', 'score': 0.44}, {'connected_gene': 'PIR57145', 'score': 0.22}, {'connected_gene': 'LINGO1', 'score': 0.08}]
chr15 GH15I077840 77840403 77842769 0.54 [{'connected_gene': 'ENSG00000259213', 'score': 11.51}, {'connected_gene': 'LOC645752', 'score': 6.4}, {'connected_gene': 'GC15P077854', 'score': 0.39}, {'connected_gene': 'LINGO1', 'score': 0.34}]
chr15 GH15I077823 77823479 77826431 0.43 [{'connected_gene': 'ENSG00000259213', 'score': 14.18}, {'connected_gene': 'LOC645752', 'score': 5.26}, {'connected_gene': 'LINGO1', 'score': 0.77}, {'connected_gene': 'GC15P077854', 'score': 0.31}]
chr15 GH15I077604 77604137 77605200 1.12 [{'connected_gene': 'ENSG00000259562', 'score': 23.46}, {'connected_gene': 'IREB2', 'score': 23.02}, {'connected_gene': 'TBC1D2B', 'score': 14.9}, {'connected_gene': 'LINGO1', 'score': 12.49}, {'connected_gene': 'PSMA4', 'score': 10.68}, {'connected_gene': 'LOC101929457', 'score': 10.24}, {'connected_gene': 'WDR61', 'score': 10.1}, {'connected_gene': 'ENSG00000260988', 'score': 10.08}, {'connected_gene': 'ENSG00000259322', 'score': 9.8}, {'connected_gene': 'HYKK', 'score': 9.73}, {'connected_gene': 'PEAK1', 'score': 7.75}, {'connected_gene': 'GC15P077635', 'score': 0.29}, {'connected_gene': 'LOC105370906', 'score': 0.28}, {'connected_gene': 'PIR57145', 'score': 0.28}]
chr15 GH15I077621 77621539 77624270 1.14 [{'connected_gene': 'ENSG00000259562', 'score': 69.62}, {'connected_gene': 'IREB2', 'score': 49.98}, {'connected_gene': 'TBC1D2B', 'score': 40.45}, {'connected_gene': 'WDR61', 'score': 37.39}, {'connected_gene': 'HMG20A', 'score': 25.29}, {'connected_gene': 'ENSG00000259322', 'score': 22.52}, {'connected_gene': 'ENSG00000260988', 'score': 19.18}, {'connected_gene': 'PSMA4', 'score': 10.68}, {'connected_gene': 'HYKK', 'score': 10.58}, {'connected_gene': 'LOC645752', 'score': 7.59}, {'connected_gene': 'ENSG00000269951', 'score': 5.49}, {'connected_gene': 'GC15P077635', 'score': 0.39}, {'connected_gene': 'PIR57145', 'score': 0.23}, {'connected_gene': 'LINGO1', 'score': 0.08}]
chr15 GH15I077737 77737579 77737728 0.93 [{'connected_gene': 'ENSG00000280359', 'score': 0.25}, {'connected_gene': 'LINGO1-AS2', 'score': 0.18}, {'connected_gene': 'LINGO1', 'score': 0.18}]
chr15 GH15I077739 77739659 77739868 0.46 [{'connected_gene': 'ENSG00000280359', 'score': 0.25}, {'connected_gene': 'LINGO1-AS2', 'score': 0.18}, {'connected_gene': 'LINGO1', 'score': 0.18}]
chr15 GH15I077731 77731007 77734498 0.74 [{'connected_gene': 'ENSG00000280359', 'score': 0.23}, {'connected_gene': 'LINGO1-AS2', 'score': 0.19}, {'connected_gene': 'LINGO1', 'score': 0.17}]

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