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
ENST00000320152 [[25137535, 25138820], [25140316, 25140393], [25144246, 25144293], [25145841, 25145924], [25147320, 25147338], [25160926, 25160992], [25226112, 25226296], [25231258, 25231365], [25241456, 25241533]] [[25138772, 25138820], [25140316, 25140393], [25144246, 25144293], [25145841, 25145924], [25147320, 25147338], [25160926, 25160992], [25226112, 25226296], [25231258, 25231365], [25241456, 25241504]]
ENST00000376378 [[25138635, 25138820], [25144246, 25144293], [25145841, 25145924], [25147320, 25147338], [25160926, 25160992], [25226112, 25226296], [25231258, 25231365], [25241456, 25241513]] [[25138800, 25138820], [25144246, 25144293], [25145841, 25145924], [25147320, 25147338], [25160926, 25160992], [25226112, 25226296], [25231258, 25231365], [25241456, 25241504]]
ENST00000376376 [[25197229, 25197614], [25226112, 25226296], [25231258, 25231365], [25241456, 25241521]] [[25197431, 25197614], [25226112, 25226296], [25231258, 25231365], [25241456, 25241504]]
NM_020200 [[25137535, 25138820], [25140316, 25140393], [25144246, 25144293], [25145841, 25145924], [25147320, 25147338], [25160926, 25160992], [25226112, 25226296], [25231258, 25231365], [25241456, 25241573]] [[25138772, 25138820], [25140316, 25140393], [25144246, 25144293], [25145841, 25145924], [25147320, 25147338], [25160926, 25160992], [25226112, 25226296], [25231258, 25231365], [25241456, 25241504]]
NM_001282786 [[25137535, 25138820], [25144246, 25144293], [25145841, 25145924], [25147320, 25147338], [25160926, 25160992], [25226112, 25226296], [25231258, 25231365], [25241456, 25241573]] [[25138800, 25138820], [25144246, 25144293], [25145841, 25145924], [25147320, 25147338], [25160926, 25160992], [25226112, 25226296], [25231258, 25231365], [25241456, 25241504]]
Promoter
Chrom Start End Description
chr10 25241499 25241541 CAGE_peak_1_at_PRTFDC1_5end
chr10 25241660 25241696 CAGE_peak_3_at_PRTFDC1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I024974 24974570 24975801 0.89 [{'connected_gene': 'THNSL1', 'score': 16.38}, {'connected_gene': 'PRTFDC1', 'score': 12.12}, {'connected_gene': 'ENKUR', 'score': 10.29}]
chr10 GH10I024988 24988872 24989021 0.72 [{'connected_gene': 'THNSL1', 'score': 16.19}, {'connected_gene': 'ENKUR', 'score': 11.66}, {'connected_gene': 'ARHGAP21', 'score': 10.97}, {'connected_gene': 'PRTFDC1', 'score': 0.28}]
chr10 GH10I024985 24985032 24985181 0.4 [{'connected_gene': 'THNSL1', 'score': 16.26}, {'connected_gene': 'ENKUR', 'score': 11.65}, {'connected_gene': 'ARHGAP21', 'score': 10.98}, {'connected_gene': 'PRTFDC1', 'score': 0.29}]
chr10 GH10I024962 24962277 24964414 1 [{'connected_gene': 'THNSL1', 'score': 10.22}, {'connected_gene': 'ENKUR', 'score': 10.14}, {'connected_gene': 'PRTFDC1', 'score': 0.44}]
chr10 GH10I024857 24857304 24859740 0.52 [{'connected_gene': 'ARHGAP21', 'score': 11.42}, {'connected_gene': 'THNSL1', 'score': 5.83}, {'connected_gene': 'ENSG00000228667', 'score': 0.44}, {'connected_gene': 'LOC105376456', 'score': 0.18}, {'connected_gene': 'PRTFDC1', 'score': 0.15}]
chr10 GH10I024790 24790788 24790963 0.77 [{'connected_gene': 'ARHGAP21', 'score': 4.51}, {'connected_gene': 'PRTFDC1', 'score': 1.53}, {'connected_gene': 'THNSL1', 'score': 1.39}, {'connected_gene': 'GPR158', 'score': 1.27}, {'connected_gene': 'LOC105376456', 'score': 0.39}, {'connected_gene': 'ENSG00000228667', 'score': 0.18}, {'connected_gene': 'GC10P024495', 'score': 0.06}]
chr10 GH10I024929 24929082 24929555 0.92 [{'connected_gene': 'ARHGAP21', 'score': 20.56}, {'connected_gene': 'PRTFDC1', 'score': 12.47}, {'connected_gene': 'GC10M024909', 'score': 0.34}, {'connected_gene': 'RN7SKP241', 'score': 0.34}, {'connected_gene': 'ENSG00000273107', 'score': 0.34}]
chr10 GH10I024828 24828592 24828616 0.22 [{'connected_gene': 'ARHGAP21', 'score': 12.85}, {'connected_gene': 'PRTFDC1', 'score': 11.45}, {'connected_gene': 'ENSG00000228667', 'score': 0.28}, {'connected_gene': 'LOC105376456', 'score': 0.23}]
chr10 GH10I024914 24914272 24914421 0.2 [{'connected_gene': 'ARHGAP21', 'score': 10.94}, {'connected_gene': 'GC10M024909', 'score': 0.44}, {'connected_gene': 'RN7SKP241', 'score': 0.44}, {'connected_gene': 'PRTFDC1', 'score': 0.28}, {'connected_gene': 'ENSG00000273107', 'score': 0.28}]
chr10 GH10I024915 24915532 24915681 0.54 [{'connected_gene': 'ARHGAP21', 'score': 10.94}, {'connected_gene': 'GC10M024909', 'score': 0.44}, {'connected_gene': 'RN7SKP241', 'score': 0.44}, {'connected_gene': 'PRTFDC1', 'score': 0.28}, {'connected_gene': 'ENSG00000273107', 'score': 0.28}]
chr10 GH10I024956 24956691 24959763 1.49 [{'connected_gene': 'PRTFDC1', 'score': 7.17}, {'connected_gene': 'THNSL1', 'score': 4.81}, {'connected_gene': 'ARHGAP21', 'score': 2.67}, {'connected_gene': 'GPR158', 'score': 1.23}]
chr10 GH10I024951 24951092 24954480 2.44 [{'connected_gene': 'PRTFDC1', 'score': 566.48}, {'connected_gene': 'ENSG00000273107', 'score': 550.77}, {'connected_gene': 'THNSL1', 'score': 2.08}, {'connected_gene': 'GPR158', 'score': 1.97}, {'connected_gene': 'ARHGAP21', 'score': 1.68}, {'connected_gene': 'GC10M024909', 'score': 0.26}, {'connected_gene': 'RN7SKP241', 'score': 0.26}]
chr10 GH10I024900 24900175 24903727 1.61 [{'connected_gene': 'PRTFDC1', 'score': 21.2}, {'connected_gene': 'ARHGAP21', 'score': 11.28}, {'connected_gene': 'GC10M024909', 'score': 0.44}, {'connected_gene': 'RN7SKP241', 'score': 0.44}, {'connected_gene': 'ENSG00000228667', 'score': 0.29}]
chr10 GH10I024920 24920482 24923253 1.39 [{'connected_gene': 'PRTFDC1', 'score': 10.42}, {'connected_gene': 'ARHGAP21', 'score': 9.44}, {'connected_gene': 'GC10M024909', 'score': 0.39}, {'connected_gene': 'RN7SKP241', 'score': 0.39}, {'connected_gene': 'ENSG00000273107', 'score': 0.29}]
chr10 GH10I024731 24731399 24732808 0.31 [{'connected_gene': 'PRTFDC1', 'score': 11.88}, {'connected_gene': 'ARHGAP21', 'score': 0.44}, {'connected_gene': 'LOC105376456', 'score': 0.25}, {'connected_gene': 'GC10P024495', 'score': 0.07}]
chr10 GH10I024825 24825156 24826801 0.85 [{'connected_gene': 'PRTFDC1', 'score': 11.45}, {'connected_gene': 'ARHGAP21', 'score': 10.13}, {'connected_gene': 'ENSG00000228667', 'score': 0.26}, {'connected_gene': 'LOC105376456', 'score': 0.25}]
chr10 GH10I024762 24762172 24763579 0.88 [{'connected_gene': 'PRTFDC1', 'score': 11.83}, {'connected_gene': 'ARHGAP21', 'score': 11.56}, {'connected_gene': 'LOC105376456', 'score': 0.37}, {'connected_gene': 'GC10P024495', 'score': 0.06}]
chr10 GH10I024622 24622501 24623787 0.52 [{'connected_gene': 'PRTFDC1', 'score': 11.42}, {'connected_gene': 'GC10P024641', 'score': 0.37}, {'connected_gene': 'PIR59453', 'score': 0.29}, {'connected_gene': 'ARHGAP21', 'score': 0.15}, {'connected_gene': 'GC10P024495', 'score': 0.13}]
chr10 GH10I024944 24944151 24946342 1.26 [{'connected_gene': 'PRTFDC1', 'score': 0.44}, {'connected_gene': 'ENSG00000273107', 'score': 0.44}, {'connected_gene': 'GC10M024909', 'score': 0.28}, {'connected_gene': 'RN7SKP241', 'score': 0.28}]
chr10 GH10I024896 24896426 24898400 1.1 [{'connected_gene': 'PRTFDC1', 'score': 16.9}, {'connected_gene': 'GC10M024909', 'score': 0.39}, {'connected_gene': 'RN7SKP241', 'score': 0.39}, {'connected_gene': 'ENSG00000228667', 'score': 0.31}]
chr10 GH10I024930 24930552 24930641 0.89 [{'connected_gene': 'PRTFDC1', 'score': 10.85}, {'connected_gene': 'GC10M024909', 'score': 0.34}, {'connected_gene': 'RN7SKP241', 'score': 0.34}, {'connected_gene': 'ENSG00000273107', 'score': 0.34}]
chr10 GH10I024893 24893852 24895390 0.69 [{'connected_gene': 'PRTFDC1', 'score': 5.27}, {'connected_gene': 'GC10M024909', 'score': 0.39}, {'connected_gene': 'RN7SKP241', 'score': 0.39}, {'connected_gene': 'ENSG00000228667', 'score': 0.31}]
chr10 GH10I024947 24947296 24948053 1.1 [{'connected_gene': 'PRTFDC1', 'score': 7.21}, {'connected_gene': 'ENSG00000273107', 'score': 0.44}, {'connected_gene': 'GC10M024909', 'score': 0.28}, {'connected_gene': 'RN7SKP241', 'score': 0.28}]
chr10 GH10I024934 24934460 24936846 0.52 [{'connected_gene': 'PRTFDC1', 'score': 10.91}, {'connected_gene': 'ENSG00000273107', 'score': 0.37}, {'connected_gene': 'GC10M024909', 'score': 0.31}, {'connected_gene': 'RN7SKP241', 'score': 0.31}]
chr10 GH10I024888 24888960 24890712 0.46 [{'connected_gene': 'PRTFDC1', 'score': 6.42}, {'connected_gene': 'GC10M024909', 'score': 0.37}, {'connected_gene': 'RN7SKP241', 'score': 0.37}, {'connected_gene': 'ENSG00000228667', 'score': 0.34}]
chr10 GH10I024992 24992809 24994219 0.59 [{'connected_gene': 'ENKUR', 'score': 18.42}, {'connected_gene': 'THNSL1', 'score': 11.8}, {'connected_gene': 'ARHGAP21', 'score': 10.97}, {'connected_gene': 'PRTFDC1', 'score': 0.28}]
chr10 GH10I024968 24968871 24970713 0.58 [{'connected_gene': 'ENKUR', 'score': 17.11}, {'connected_gene': 'THNSL1', 'score': 15.09}, {'connected_gene': 'PRTFDC1', 'score': 4.89}]
chr10 GH10I024819 24819725 24823400 0.97 [{'connected_gene': 'LOC105376456', 'score': 0.26}, {'connected_gene': 'ENSG00000228667', 'score': 0.25}, {'connected_gene': 'PRTFDC1', 'score': 0.12}]
chr10 GH10I024813 24813983 24816367 0.79 [{'connected_gene': 'LOC105376456', 'score': 0.28}, {'connected_gene': 'ENSG00000228667', 'score': 0.23}, {'connected_gene': 'PRTFDC1', 'score': 0.12}]
chr10 GH10I024866 24866367 24867846 1.34 [{'connected_gene': 'ENSG00000228667', 'score': 550.77}, {'connected_gene': 'THNSL1', 'score': 4.46}, {'connected_gene': 'ARHGAP21', 'score': 1.63}, {'connected_gene': 'PRTFDC1', 'score': 0.17}, {'connected_gene': 'LOC105376456', 'score': 0.17}]
chr10 GH10I024865 24865412 24865561 0.46 [{'connected_gene': 'ENSG00000228667', 'score': 0.77}, {'connected_gene': 'PRTFDC1', 'score': 0.17}, {'connected_gene': 'LOC105376456', 'score': 0.17}]
chr10 GH10I024909 24908440 24909981 0.98 [{'connected_gene': 'GC10M024909', 'score': 550.77}, {'connected_gene': 'RN7SKP241', 'score': 550.77}, {'connected_gene': 'ARHGAP21', 'score': 9.06}, {'connected_gene': 'PRTFDC1', 'score': 7.04}, {'connected_gene': 'ENSG00000273107', 'score': 0.26}]
chr10 GH10I024886 24886226 24888815 1.14 [{'connected_gene': 'ENSG00000228667', 'score': 0.37}, {'connected_gene': 'GC10M024909', 'score': 0.34}, {'connected_gene': 'RN7SKP241', 'score': 0.34}, {'connected_gene': 'PRTFDC1', 'score': 0.2}]
chr10 GH10I024871 24871914 24874321 1.07 [{'connected_gene': 'ENSG00000228667', 'score': 0.44}, {'connected_gene': 'GC10M024909', 'score': 0.28}, {'connected_gene': 'RN7SKP241', 'score': 0.28}, {'connected_gene': 'PRTFDC1', 'score': 0.18}]
chr10 GH10I024912 24912200 24912601 1.05 [{'connected_gene': 'GC10M024909', 'score': 0.77}, {'connected_gene': 'RN7SKP241', 'score': 0.77}, {'connected_gene': 'PRTFDC1', 'score': 0.26}, {'connected_gene': 'ENSG00000273107', 'score': 0.26}]
chr10 GH10I024908 24908072 24908221 0.4 [{'connected_gene': 'GC10M024909', 'score': 550.77}, {'connected_gene': 'RN7SKP241', 'score': 550.77}, {'connected_gene': 'PRTFDC1', 'score': 4.87}, {'connected_gene': 'ENSG00000228667', 'score': 0.26}]
chr10 GH10I024882 24882201 24883101 0.72 [{'connected_gene': 'ENSG00000228667', 'score': 0.37}, {'connected_gene': 'GC10M024909', 'score': 0.31}, {'connected_gene': 'RN7SKP241', 'score': 0.31}, {'connected_gene': 'PRTFDC1', 'score': 0.19}]
chr10 GH10I024891 24891972 24892161 0.88 [{'connected_gene': 'GC10M024909', 'score': 0.37}, {'connected_gene': 'RN7SKP241', 'score': 0.37}, {'connected_gene': 'ENSG00000228667', 'score': 0.34}, {'connected_gene': 'PRTFDC1', 'score': 0.21}]
chr10 GH10I024847 24847381 24847946 0.31 [{'connected_gene': 'ENSG00000228667', 'score': 0.37}, {'connected_gene': 'LOC105376456', 'score': 0.2}, {'connected_gene': 'PRTFDC1', 'score': 0.14}]
chr10 GH10I024849 24848309 24848546 0.2 [{'connected_gene': 'ENSG00000228667', 'score': 0.37}, {'connected_gene': 'LOC105376456', 'score': 0.19}, {'connected_gene': 'PRTFDC1', 'score': 0.14}]
chr10 GH10I024848 24848794 24852604 0.92 [{'connected_gene': 'ENSG00000273107', 'score': 4.37}, {'connected_gene': 'ENSG00000228667', 'score': 0.37}, {'connected_gene': 'LOC105376456', 'score': 0.19}, {'connected_gene': 'PRTFDC1', 'score': 0.15}]