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
ENST00000375453 [[17634689, 17634809], [17657463, 17657644], [17660437, 17660504], [17660818, 17661291]] [[17634717, 17634809], [17657463, 17657644], [17660437, 17660504], [17660818, 17660862]]
ENST00000375448 [[17634691, 17634809], [17657463, 17657644], [17660437, 17660504], [17662653, 17662721], [17664532, 17664650], [17666182, 17666308], [17668437, 17668616], [17668793, 17668897], [17672522, 17672634], [17674435, 17674543], [17681027, 17681182], [17682477, 17682622], [17682851, 17682954], [17685332, 17685403], [17685774, 17685903], [17690016, 17690499]] [[17634717, 17634809], [17657463, 17657644], [17660437, 17660504], [17662653, 17662721], [17664532, 17664650], [17666182, 17666308], [17668437, 17668616], [17668793, 17668897], [17672522, 17672634], [17674435, 17674543], [17681027, 17681182], [17682477, 17682622], [17682851, 17682954], [17685332, 17685403], [17685774, 17685903], [17690016, 17690250]]
ENST00000468945 [[17672528, 17672634], [17674435, 17674702]] None
ENST00000487048 [[17674421, 17674543], [17681027, 17681182], [17682477, 17682622], [17682851, 17682942]] None
ENST00000467001 [[17675224, 17675280], [17681027, 17681182], [17682477, 17682622], [17682851, 17682954], [17685332, 17685344]] None
NM_012387 [[17634689, 17634809], [17657463, 17657644], [17660437, 17660504], [17662653, 17662721], [17664532, 17664650], [17666182, 17666308], [17668437, 17668616], [17668793, 17668897], [17672522, 17672634], [17674435, 17674543], [17681027, 17681182], [17682477, 17682622], [17682851, 17682954], [17685332, 17685403], [17685774, 17685903], [17690016, 17690495]] [[17634717, 17634809], [17657463, 17657644], [17660437, 17660504], [17662653, 17662721], [17664532, 17664650], [17666182, 17666308], [17668437, 17668616], [17668793, 17668897], [17672522, 17672634], [17674435, 17674543], [17681027, 17681182], [17682477, 17682622], [17682851, 17682954], [17685332, 17685403], [17685774, 17685903], [17690016, 17690250]]
Promoter
Chrom Start End Description
chr1 17634689 17634696 CAGE_peak_1_at_PADI4_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I017635 17635557 17636320 1.11 [{'connected_gene': 'IGSF21', 'score': 11.02}, {'connected_gene': 'ARHGEF10L', 'score': 10.45}, {'connected_gene': 'PADI4', 'score': 1.14}, {'connected_gene': 'ACTL8', 'score': 0.18}, {'connected_gene': 'GC01P017551', 'score': 0.18}]
chr1 GH01I017629 17629305 17631506 1.36 [{'connected_gene': 'ARHGEF10L', 'score': 10.64}, {'connected_gene': 'PADI4', 'score': 1.22}, {'connected_gene': 'GC01P017551', 'score': 0.18}, {'connected_gene': 'ACTL8', 'score': 0.18}]
chr1 GH01I017210 17210533 17213827 1.28 [{'connected_gene': 'PADI3', 'score': 11.75}, {'connected_gene': 'PADI2', 'score': 11.34}, {'connected_gene': 'SDHB', 'score': 10.79}, {'connected_gene': 'PADI4', 'score': 10.34}, {'connected_gene': 'PADI1', 'score': 0.44}, {'connected_gene': 'GC01M017106', 'score': 0.22}, {'connected_gene': 'GC01M017107', 'score': 0.22}]
chr1 GH01I017215 17215138 17215656 0.63 [{'connected_gene': 'PADI3', 'score': 11.77}, {'connected_gene': 'PADI2', 'score': 10.89}, {'connected_gene': 'SDHB', 'score': 10.79}, {'connected_gene': 'PADI4', 'score': 10.35}, {'connected_gene': 'MST1L', 'score': 4.68}, {'connected_gene': 'PADI1', 'score': 0.39}, {'connected_gene': 'GC01M017107', 'score': 0.23}, {'connected_gene': 'GC01M017106', 'score': 0.23}]
chr1 GH01I017289 17289324 17290243 0.43 [{'connected_gene': 'PADI3', 'score': 11.45}, {'connected_gene': 'PADI2', 'score': 10.77}, {'connected_gene': 'SDHB', 'score': 10.15}, {'connected_gene': 'PADI4', 'score': 8.18}, {'connected_gene': 'MIR3972', 'score': 0.39}]
chr1 GH01I017003 17003626 17004592 0.62 [{'connected_gene': 'MFAP2', 'score': 37.48}, {'connected_gene': 'ENSG00000226526', 'score': 12.78}, {'connected_gene': 'PADI2', 'score': 11.0}, {'connected_gene': 'SDHB', 'score': 10.93}, {'connected_gene': 'PADI4', 'score': 9.28}, {'connected_gene': 'ATP13A2', 'score': 0.44}, {'connected_gene': 'PIR43090', 'score': 0.39}]
chr1 GH01I017009 17009826 17009975 0.43 [{'connected_gene': 'MFAP2', 'score': 12.78}, {'connected_gene': 'ENSG00000226526', 'score': 12.76}, {'connected_gene': 'PADI2', 'score': 11.01}, {'connected_gene': 'SDHB', 'score': 10.96}, {'connected_gene': 'PADI4', 'score': 9.28}, {'connected_gene': 'ATP13A2', 'score': 0.77}, {'connected_gene': 'PIR43090', 'score': 0.37}]
chr1 GH01I017393 17393378 17393495 0.24 [{'connected_gene': 'PADI6', 'score': 35.5}, {'connected_gene': 'RCC2', 'score': 11.42}, {'connected_gene': 'PADI4', 'score': 11.09}, {'connected_gene': 'SDHB', 'score': 11.0}, {'connected_gene': 'PADI2', 'score': 10.77}, {'connected_gene': 'GC01P017391', 'score': 0.77}, {'connected_gene': 'GC01P017405', 'score': 0.39}]
chr1 GH01I017364 17364969 17366000 0.63 [{'connected_gene': 'PADI6', 'score': 0.44}, {'connected_gene': 'PADI4', 'score': 0.22}]
chr1 GH01I017368 17368943 17370474 0.46 [{'connected_gene': 'PADI6', 'score': 8.45}, {'connected_gene': 'PADI4', 'score': 0.21}]
chr1 GH01I017126 17126979 17130718 1.55 [{'connected_gene': 'PADI1', 'score': 11.71}, {'connected_gene': 'PADI3', 'score': 11.55}, {'connected_gene': 'SDHB', 'score': 11.51}, {'connected_gene': 'CROCC', 'score': 7.7}, {'connected_gene': 'PADI2', 'score': 5.11}, {'connected_gene': 'PADI4', 'score': 1.7}, {'connected_gene': 'PIR46847', 'score': 0.77}, {'connected_gene': 'LOC105376808', 'score': 0.44}, {'connected_gene': 'GC01M017107', 'score': 0.12}, {'connected_gene': 'GC01M017106', 'score': 0.12}]
chr1 GH01I017176 17176085 17177353 0.46 [{'connected_gene': 'PADI1', 'score': 11.72}, {'connected_gene': 'PADI3', 'score': 11.23}, {'connected_gene': 'PADI4', 'score': 10.23}, {'connected_gene': 'LOC400743', 'score': 9.06}, {'connected_gene': 'LOC105376808', 'score': 0.26}, {'connected_gene': 'GC01M017106', 'score': 0.16}, {'connected_gene': 'GC01M017107', 'score': 0.16}]
chr1 GH01I017182 17182929 17184444 0.38 [{'connected_gene': 'PADI1', 'score': 12.26}, {'connected_gene': 'PADI2', 'score': 11.0}, {'connected_gene': 'LOC400743', 'score': 10.58}, {'connected_gene': 'PADI4', 'score': 10.19}, {'connected_gene': 'LOC105376808', 'score': 0.25}, {'connected_gene': 'GC01M017106', 'score': 0.18}, {'connected_gene': 'GC01M017107', 'score': 0.18}]
chr1 GH01I017181 17181492 17182584 0.66 [{'connected_gene': 'PADI1', 'score': 12.26}, {'connected_gene': 'PADI2', 'score': 11.05}, {'connected_gene': 'PADI4', 'score': 10.19}, {'connected_gene': 'LOC400743', 'score': 10.14}, {'connected_gene': 'LOC105376808', 'score': 0.25}, {'connected_gene': 'GC01M017106', 'score': 0.17}, {'connected_gene': 'GC01M017107', 'score': 0.17}]
chr1 GH01I017274 17274286 17274435 0.62 [{'connected_gene': 'PADI4', 'score': 11.99}, {'connected_gene': 'PADI3', 'score': 11.77}, {'connected_gene': 'SDHB', 'score': 11.11}, {'connected_gene': 'PADI2', 'score': 10.82}, {'connected_gene': 'MIR3972', 'score': 0.77}, {'connected_gene': 'GC01M017106', 'score': 0.44}, {'connected_gene': 'GC01M017107', 'score': 0.44}]
chr1 GH01I017347 17347682 17349135 0.9 [{'connected_gene': 'PADI4', 'score': 34.43}, {'connected_gene': 'PADI6', 'score': 0.34}]
chr1 GH01I017307 17307801 17312600 1.42 [{'connected_gene': 'PADI4', 'score': 559.53}, {'connected_gene': 'PADI1', 'score': 5.41}, {'connected_gene': 'MST1P2', 'score': 4.36}, {'connected_gene': 'PADI6', 'score': 0.21}]
chr1 GH01I017303 17303795 17305200 0.76 [{'connected_gene': 'PADI4', 'score': 9.78}, {'connected_gene': 'PADI1', 'score': 5.28}, {'connected_gene': 'MIR3972', 'score': 0.31}]
chr1 GH01I017250 17250255 17251974 1.21 [{'connected_gene': 'PADI4', 'score': 11.3}, {'connected_gene': 'PADI2', 'score': 11.16}, {'connected_gene': 'PADI1', 'score': 10.55}, {'connected_gene': 'PADI3', 'score': 5.89}, {'connected_gene': 'GC01M017106', 'score': 0.37}, {'connected_gene': 'GC01M017107', 'score': 0.37}]
chr1 GH01I017281 17281601 17282800 0.69 [{'connected_gene': 'PADI4', 'score': 7.0}, {'connected_gene': 'MIR3972', 'score': 0.77}, {'connected_gene': 'PADI3', 'score': 0.29}]
chr1 GH01I017286 17286941 17287968 0.89 [{'connected_gene': 'PADI4', 'score': 7.95}, {'connected_gene': 'MIR3972', 'score': 0.44}]
chr1 GH01I017206 17206802 17209863 1.62 [{'connected_gene': 'CROCCP3', 'score': 12.17}, {'connected_gene': 'PADI3', 'score': 11.48}, {'connected_gene': 'PADI2', 'score': 11.35}, {'connected_gene': 'CROCC', 'score': 10.95}, {'connected_gene': 'NBPF1', 'score': 10.74}, {'connected_gene': 'SDHB', 'score': 10.5}, {'connected_gene': 'LINC01772', 'score': 10.19}, {'connected_gene': 'PADI4', 'score': 10.05}, {'connected_gene': 'PADI1', 'score': 0.77}, {'connected_gene': 'GC01M017107', 'score': 0.22}, {'connected_gene': 'GC01M017106', 'score': 0.22}]
chr1 GH01I017224 17224262 17227371 0.73 [{'connected_gene': 'CROCCP3', 'score': 22.12}, {'connected_gene': 'LINC01772', 'score': 18.81}, {'connected_gene': 'CROCC', 'score': 13.71}, {'connected_gene': 'PADI3', 'score': 13.05}, {'connected_gene': 'PADI2', 'score': 11.52}, {'connected_gene': 'SDHB', 'score': 11.27}, {'connected_gene': 'PADI4', 'score': 10.93}, {'connected_gene': 'LOC105376805', 'score': 4.89}, {'connected_gene': 'PADI1', 'score': 0.34}, {'connected_gene': 'GC01M017107', 'score': 0.26}, {'connected_gene': 'GC01M017106', 'score': 0.26}]
chr1 GH01I017080 17080102 17084905 0.68 [{'connected_gene': 'PADI2', 'score': 30.34}, {'connected_gene': 'CROCC', 'score': 27.67}, {'connected_gene': 'MFAP2', 'score': 15.19}, {'connected_gene': 'SDHB', 'score': 12.31}, {'connected_gene': 'PADI4', 'score': 11.32}, {'connected_gene': 'PADI1', 'score': 10.92}]
chr1 GH01I017074 17074715 17076443 0.69 [{'connected_gene': 'PADI2', 'score': 36.86}, {'connected_gene': 'SDHB', 'score': 12.34}, {'connected_gene': 'PADI1', 'score': 10.72}, {'connected_gene': 'PADI4', 'score': 10.6}]
chr1 GH01I017355 17355801 17356800 0.69 [{'connected_gene': 'PADI2', 'score': 11.03}, {'connected_gene': 'PADI3', 'score': 11.02}, {'connected_gene': 'PADI6', 'score': 0.37}, {'connected_gene': 'PADI4', 'score': 0.25}]
chr1 GH01I017063 17062001 17062200 0.63 [{'connected_gene': 'PADI2', 'score': 11.67}, {'connected_gene': 'PADI3', 'score': 11.18}, {'connected_gene': 'PADI4', 'score': 10.43}, {'connected_gene': 'SDHB', 'score': 0.44}]
chr1 GH01I017076 17076817 17077910 0.2 [{'connected_gene': 'PADI2', 'score': 37.56}, {'connected_gene': 'MFAP2', 'score': 14.81}, {'connected_gene': 'SDHB', 'score': 12.34}, {'connected_gene': 'PADI1', 'score': 10.72}, {'connected_gene': 'PADI4', 'score': 10.6}]
chr1 GH01I017066 17066201 17067600 0.69 [{'connected_gene': 'PADI2', 'score': 27.93}, {'connected_gene': 'MFAP2', 'score': 14.56}, {'connected_gene': 'PADI3', 'score': 10.89}, {'connected_gene': 'PADI4', 'score': 10.51}, {'connected_gene': 'CROCC', 'score': 6.36}, {'connected_gene': 'SDHB', 'score': 0.39}]
chr1 GH01I017059 17059346 17061800 1.39 [{'connected_gene': 'PADI2', 'score': 28.62}, {'connected_gene': 'MFAP2', 'score': 17.37}, {'connected_gene': 'PADI3', 'score': 11.18}, {'connected_gene': 'PADI4', 'score': 10.43}, {'connected_gene': 'SDHB', 'score': 0.44}]
chr1 GH01I017062 17062801 17064570 1.03 [{'connected_gene': 'PADI2', 'score': 27.5}, {'connected_gene': 'MFAP2', 'score': 14.4}, {'connected_gene': 'PADI3', 'score': 11.18}, {'connected_gene': 'PADI4', 'score': 10.43}, {'connected_gene': 'LOC100421279', 'score': 7.95}, {'connected_gene': 'CROCC', 'score': 5.01}, {'connected_gene': 'ENSG00000224174', 'score': 4.17}, {'connected_gene': 'SDHB', 'score': 0.44}]
chr1 GH01I017096 17096885 17100325 1.31 [{'connected_gene': 'PADI2', 'score': 104.87}, {'connected_gene': 'PADI4', 'score': 15.65}, {'connected_gene': 'CROCCP2', 'score': 4.6}, {'connected_gene': 'SDHB', 'score': 0.26}]
chr1 GH01I017087 17087661 17088644 0.56 [{'connected_gene': 'PADI2', 'score': 84.8}, {'connected_gene': 'PADI4', 'score': 11.32}, {'connected_gene': 'SDHB', 'score': 0.29}]
chr1 GH01I017088 17088844 17089719 0.43 [{'connected_gene': 'PADI2', 'score': 59.91}, {'connected_gene': 'PADI4', 'score': 11.33}, {'connected_gene': 'SDHB', 'score': 0.28}]
chr1 GH01I017086 17086706 17087239 0.2 [{'connected_gene': 'PADI2', 'score': 48.91}, {'connected_gene': 'PADI4', 'score': 11.32}, {'connected_gene': 'SDHB', 'score': 0.29}]
chr1 GH01I017085 17085010 17085168 0.71 [{'connected_gene': 'PADI2', 'score': 13.92}, {'connected_gene': 'PADI4', 'score': 11.32}, {'connected_gene': 'NBPF1', 'score': 1.63}, {'connected_gene': 'SDHB', 'score': 0.29}]
chr1 GH01I017186 17186013 17187370 0.4 [{'connected_gene': 'PADI2', 'score': 11.33}, {'connected_gene': 'PADI4', 'score': 10.24}, {'connected_gene': 'LOC400743', 'score': 9.35}, {'connected_gene': 'LOC105376808', 'score': 0.23}, {'connected_gene': 'GC01M017106', 'score': 0.18}, {'connected_gene': 'GC01M017107', 'score': 0.18}]
chr1 GH01I017276 17276471 17277200 0.72 [{'connected_gene': 'MIR3972', 'score': 550.77}, {'connected_gene': 'PADI4', 'score': 12.09}, {'connected_gene': 'PADI3', 'score': 11.63}, {'connected_gene': 'PADI2', 'score': 11.5}, {'connected_gene': 'GC01M017106', 'score': 0.44}, {'connected_gene': 'GC01M017107', 'score': 0.44}]
chr1 GH01I016902 16902591 16907508 2.21 [{'connected_gene': 'ENSG00000272426', 'score': 550.77}, {'connected_gene': 'CROCC', 'score': 47.99}, {'connected_gene': 'ZBTB17', 'score': 47.69}, {'connected_gene': 'CROCCP3', 'score': 47.57}, {'connected_gene': 'LINC01772', 'score': 32.77}, {'connected_gene': 'RPL22P3', 'score': 29.75}, {'connected_gene': 'ARHGEF19', 'score': 29.11}, {'connected_gene': 'MFAP2', 'score': 28.49}, {'connected_gene': 'NBPF1', 'score': 27.17}, {'connected_gene': 'NECAP2', 'score': 23.67}, {'connected_gene': 'SZRD1', 'score': 20.77}, {'connected_gene': 'EIF1AXP1', 'score': 16.68}, {'connected_gene': 'ENSG00000226526', 'score': 11.59}, {'connected_gene': 'TRE-TTC3-1', 'score': 11.3}, {'connected_gene': 'FBXO42', 'score': 10.66}, {'connected_gene': 'RSG1', 'score': 10.51}, {'connected_gene': 'ENSG00000224621', 'score': 10.13}, {'connected_gene': 'RCC2', 'score': 9.98}, {'connected_gene': 'LOC105376805', 'score': 8.72}, {'connected_gene': 'ENSG00000235241', 'score': 7.77}, {'connected_gene': 'FAM131C', 'score': 4.28}, {'connected_gene': 'PADI2', 'score': 1.45}, {'connected_gene': 'PADI4', 'score': 1.16}, {'connected_gene': 'GC01M016886', 'score': 0.34}]
chr1 GH01I017007 17007266 17007415 0.38 [{'connected_gene': 'ENSG00000226526', 'score': 12.78}, {'connected_gene': 'MFAP2', 'score': 12.78}, {'connected_gene': 'PADI2', 'score': 11.01}, {'connected_gene': 'SDHB', 'score': 10.94}, {'connected_gene': 'PADI4', 'score': 9.28}, {'connected_gene': 'ATP13A2', 'score': 0.77}, {'connected_gene': 'PIR43090', 'score': 0.37}]
chr1 GH01I017376 17376969 17378018 0.67 [{'connected_gene': 'ENSG00000227751', 'score': 12.42}, {'connected_gene': 'PADI4', 'score': 11.58}, {'connected_gene': 'PADI3', 'score': 10.64}, {'connected_gene': 'PADI6', 'score': 0.44}, {'connected_gene': 'GC01P017391', 'score': 0.39}]

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