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
ENST00000442039 [[1469744, 1470613], [1470692, 1470801]] [[1470246, 1470613], [1470692, 1470724]]
ENST00000563974 [[1469752, 1470757]] [[1470246, 1470444]]
ENST00000310355 [[1469943, 1470222], [1470324, 1470613], [1476119, 1476384], [1478412, 1478506], [1479201, 1479345]] [[1469943, 1470222], [1470324, 1470613], [1476119, 1476384], [1478412, 1478506], [1479201, 1479345]]
NM_001272051 [[1469744, 1470613], [1470692, 1470801]] [[1470246, 1470613], [1470692, 1470724]]
Promoter
Chrom Start End Description
chr16 1470709 1470768 CAGE_peak_1_at_C16orf91_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I000635 635034 639110 2.3 [{'connected_gene': 'METTL26', 'score': 596.68}, {'connected_gene': 'GC16P000992', 'score': 550.77}, {'connected_gene': 'TRG-CCC2-2', 'score': 550.77}, {'connected_gene': 'LOC100287175', 'score': 550.77}, {'connected_gene': 'MCRIP2', 'score': 550.77}, {'connected_gene': 'WFIKKN1', 'score': 40.01}, {'connected_gene': 'CRAMP1', 'score': 25.06}, {'connected_gene': 'NARFL', 'score': 19.97}, {'connected_gene': 'ENSG00000269482', 'score': 19.37}, {'connected_gene': 'ENSG00000268836', 'score': 19.35}, {'connected_gene': 'WDR90', 'score': 15.99}, {'connected_gene': 'ENSG00000260646', 'score': 15.3}, {'connected_gene': 'WDR24', 'score': 14.88}, {'connected_gene': 'CCDC154', 'score': 14.36}, {'connected_gene': 'IFT140', 'score': 13.16}, {'connected_gene': 'LUC7L', 'score': 12.49}, {'connected_gene': 'UBE2I', 'score': 11.95}, {'connected_gene': 'TELO2', 'score': 11.94}, {'connected_gene': 'ENSG00000228779', 'score': 11.68}, {'connected_gene': 'C16orf91', 'score': 11.02}, {'connected_gene': 'JMJD8', 'score': 10.91}, {'connected_gene': 'UNKL', 'score': 10.36}, {'connected_gene': 'ENSG00000260425', 'score': 9.94}, {'connected_gene': 'RGS11', 'score': 9.89}, {'connected_gene': 'RPUSD1', 'score': 5.12}, {'connected_gene': 'RHBDL1', 'score': 4.91}, {'connected_gene': 'GC16M000639', 'score': 0.77}]
chr16 GH16I001308 1308166 1313342 2.35 [{'connected_gene': 'UBE2I', 'score': 706.17}, {'connected_gene': 'LOC102723815', 'score': 550.77}, {'connected_gene': 'WDR90', 'score': 218.39}, {'connected_gene': 'CRAMP1', 'score': 210.1}, {'connected_gene': 'TELO2', 'score': 191.7}, {'connected_gene': 'ENSG00000261505', 'score': 183.67}, {'connected_gene': 'E4F1', 'score': 149.71}, {'connected_gene': 'TSC2', 'score': 141.07}, {'connected_gene': 'ENSG00000260051', 'score': 141.04}, {'connected_gene': 'IFT140', 'score': 136.62}, {'connected_gene': 'RHOT2', 'score': 126.17}, {'connected_gene': 'JMJD8', 'score': 121.34}, {'connected_gene': 'UNKL', 'score': 114.72}, {'connected_gene': 'ENSG00000260646', 'score': 112.07}, {'connected_gene': 'NUBP2', 'score': 111.56}, {'connected_gene': 'ENSG00000260954', 'score': 107.41}, {'connected_gene': 'SNORA64', 'score': 105.81}, {'connected_gene': 'ENSG00000255513', 'score': 101.29}, {'connected_gene': 'TBL3', 'score': 101.27}, {'connected_gene': 'WDR24', 'score': 95.22}, {'connected_gene': 'ENSG00000262528', 'score': 84.5}, {'connected_gene': 'ENSG00000261207', 'score': 83.17}, {'connected_gene': 'NME3', 'score': 73.92}, {'connected_gene': 'SNHG19', 'score': 68.76}, {'connected_gene': 'ENSG00000261123', 'score': 67.36}, {'connected_gene': 'SNORD60', 'score': 64.07}, {'connected_gene': 'ENSG00000260447', 'score': 60.49}, {'connected_gene': 'LOC105371049', 'score': 54.3}, {'connected_gene': 'TRAF7', 'score': 47.91}, {'connected_gene': 'CLCN7', 'score': 46.77}, {'connected_gene': 'ZNF598', 'score': 46.5}, {'connected_gene': 'LOC105371184', 'score': 43.39}, {'connected_gene': 'ENSG00000260022', 'score': 39.25}, {'connected_gene': 'CHTF18', 'score': 36.46}, {'connected_gene': 'SPSB3', 'score': 35.17}, {'connected_gene': 'AXIN1', 'score': 32.37}, {'connected_gene': 'LMF1', 'score': 31.26}, {'connected_gene': 'ENSG00000259840', 'score': 20.8}, {'connected_gene': 'CAPN15', 'score': 20.68}, {'connected_gene': 'EME2', 'score': 20.48}, {'connected_gene': 'CCDC154', 'score': 19.89}, {'connected_gene': 'LOC106660606', 'score': 19.79}, {'connected_gene': 'LOC100134368', 'score': 19.24}, {'connected_gene': 'HAGHL', 'score': 19.05}, {'connected_gene': 'RAB11FIP3', 'score': 18.88}, {'connected_gene': 'METTL26', 'score': 18.75}, {'connected_gene': 'RPS2', 'score': 18.29}, {'connected_gene': 'ENSG00000260807', 'score': 11.81}, {'connected_gene': 'SOX8', 'score': 10.69}, {'connected_gene': 'C16orf91', 'score': 10.63}, {'connected_gene': 'TPSAB1', 'score': 10.63}, {'connected_gene': 'LOC105371038', 'score': 10.33}, {'connected_gene': 'BAIAP3', 'score': 7.13}, {'connected_gene': 'JPT2', 'score': 5.28}, {'connected_gene': 'GC16M001320', 'score': 0.39}]
chr16 GH16I002204 2204507 2206977 2.06 [{'connected_gene': 'MLST8', 'score': 571.82}, {'connected_gene': 'CRAMP1', 'score': 25.62}, {'connected_gene': 'E4F1', 'score': 24.1}, {'connected_gene': 'ZNF213-AS1', 'score': 23.93}, {'connected_gene': 'UNKL', 'score': 22.71}, {'connected_gene': 'TBL3', 'score': 20.86}, {'connected_gene': 'UBE2I', 'score': 19.88}, {'connected_gene': 'TSC2', 'score': 16.27}, {'connected_gene': 'TELO2', 'score': 15.72}, {'connected_gene': 'NME3', 'score': 13.62}, {'connected_gene': 'ERVK13-1', 'score': 12.64}, {'connected_gene': 'EME2', 'score': 12.58}, {'connected_gene': 'ENSG00000260051', 'score': 11.43}, {'connected_gene': 'NUBP2', 'score': 10.73}, {'connected_gene': 'CLCN7', 'score': 10.63}, {'connected_gene': 'C16orf91', 'score': 10.52}, {'connected_gene': 'IFT140', 'score': 10.51}, {'connected_gene': 'FLYWCH1', 'score': 10.38}, {'connected_gene': 'SRRM2', 'score': 9.8}, {'connected_gene': 'PIR40952', 'score': 0.77}]
chr16 GH16I001271 1271034 1272618 1.05 [{'connected_gene': 'CRAMP1', 'score': 254.72}, {'connected_gene': 'WDR90', 'score': 239.54}, {'connected_gene': 'IFT140', 'score': 189.23}, {'connected_gene': 'TELO2', 'score': 178.79}, {'connected_gene': 'ENSG00000260646', 'score': 162.52}, {'connected_gene': 'TSC2', 'score': 150.07}, {'connected_gene': 'ENSG00000261505', 'score': 150.02}, {'connected_gene': 'E4F1', 'score': 143.04}, {'connected_gene': 'WDR24', 'score': 140.14}, {'connected_gene': 'ENSG00000260051', 'score': 129.3}, {'connected_gene': 'ENSG00000261123', 'score': 121.88}, {'connected_gene': 'UBE2I', 'score': 121.68}, {'connected_gene': 'RHOT2', 'score': 120.46}, {'connected_gene': 'ENSG00000262528', 'score': 114.73}, {'connected_gene': 'NUBP2', 'score': 104.6}, {'connected_gene': 'TBL3', 'score': 102.7}, {'connected_gene': 'LOC105371184', 'score': 101.64}, {'connected_gene': 'UNKL', 'score': 100.12}, {'connected_gene': 'LOC105371049', 'score': 96.71}, {'connected_gene': 'JMJD8', 'score': 91.38}, {'connected_gene': 'ENSG00000260954', 'score': 83.08}, {'connected_gene': 'ENSG00000261207', 'score': 76.29}, {'connected_gene': 'SNORA64', 'score': 75.2}, {'connected_gene': 'ENSG00000255513', 'score': 69.35}, {'connected_gene': 'ENSG00000260447', 'score': 64.81}, {'connected_gene': 'SNHG19', 'score': 63.11}, {'connected_gene': 'NME3', 'score': 61.7}, {'connected_gene': 'CCDC154', 'score': 49.97}, {'connected_gene': 'CLCN7', 'score': 47.05}, {'connected_gene': 'LMF1', 'score': 46.51}, {'connected_gene': 'SNORD60', 'score': 45.85}, {'connected_gene': 'ZNF598', 'score': 44.01}, {'connected_gene': 'AXIN1', 'score': 43.97}, {'connected_gene': 'SPSB3', 'score': 35.16}, {'connected_gene': 'EME2', 'score': 33.38}, {'connected_gene': 'TRAF7', 'score': 31.33}, {'connected_gene': 'ENSG00000260022', 'score': 30.6}, {'connected_gene': 'CHTF18', 'score': 28.27}, {'connected_gene': 'RAB11FIP3', 'score': 27.02}, {'connected_gene': 'LOC106660606', 'score': 20.9}, {'connected_gene': 'METTL26', 'score': 19.92}, {'connected_gene': 'PKD1', 'score': 12.6}, {'connected_gene': 'ENSG00000260182', 'score': 12.12}, {'connected_gene': 'RPS20P2', 'score': 11.9}, {'connected_gene': 'BAIAP3', 'score': 11.89}, {'connected_gene': 'GNPTG', 'score': 11.86}, {'connected_gene': 'RNF151', 'score': 11.32}, {'connected_gene': 'CAPN15', 'score': 11.17}, {'connected_gene': 'PIGQ', 'score': 11.12}, {'connected_gene': 'TSR3', 'score': 10.95}, {'connected_gene': 'C16orf91', 'score': 10.61}, {'connected_gene': 'RNPS1', 'score': 10.47}, {'connected_gene': 'LOC105371038', 'score': 10.33}, {'connected_gene': 'TPSD1', 'score': 10.2}, {'connected_gene': 'NARFL', 'score': 9.99}, {'connected_gene': 'RGS11', 'score': 9.86}, {'connected_gene': 'LOC100134368', 'score': 9.81}, {'connected_gene': 'HAGHL', 'score': 9.68}, {'connected_gene': 'TPSP1', 'score': 0.77}, {'connected_gene': 'PRSS29P', 'score': 0.44}]
chr16 GH16I001419 1419116 1422647 2.08 [{'connected_gene': 'C16orf91', 'score': 550.77}, {'connected_gene': 'LOC647211', 'score': 550.77}, {'connected_gene': 'LOC102723841', 'score': 550.77}, {'connected_gene': 'CCDC154', 'score': 22.05}, {'connected_gene': 'TPSAB1', 'score': 10.52}, {'connected_gene': 'RPS2', 'score': 10.02}, {'connected_gene': 'FAHD1', 'score': 7.63}, {'connected_gene': 'LOC105371044', 'score': 0.44}]
chr16 GH16I001426 1426648 1429660 0.89 [{'connected_gene': 'LOC105371044', 'score': 550.77}, {'connected_gene': 'CCDC154', 'score': 23.9}, {'connected_gene': 'TSR3', 'score': 5.66}, {'connected_gene': 'CLCN7', 'score': 5.34}, {'connected_gene': 'C16orf91', 'score': 0.44}, {'connected_gene': 'LOC647211', 'score': 0.44}]
chr16 GH16I000981 980600 982201 2.14 [{'connected_gene': 'ENSG00000260807', 'score': 567.37}, {'connected_gene': 'LMF1', 'score': 565.01}, {'connected_gene': 'SOX8', 'score': 558.01}, {'connected_gene': 'GC16P001002', 'score': 550.77}, {'connected_gene': 'GC16M000980', 'score': 550.77}, {'connected_gene': 'GC16M000982', 'score': 550.77}, {'connected_gene': 'WDR90', 'score': 86.08}, {'connected_gene': 'CRAMP1', 'score': 83.03}, {'connected_gene': 'ENSG00000261505', 'score': 75.92}, {'connected_gene': 'UBE2I', 'score': 67.62}, {'connected_gene': 'JMJD8', 'score': 64.21}, {'connected_gene': 'TELO2', 'score': 57.29}, {'connected_gene': 'ENSG00000260954', 'score': 56.91}, {'connected_gene': 'ENSG00000260051', 'score': 49.31}, {'connected_gene': 'WDR24', 'score': 48.18}, {'connected_gene': 'ENSG00000255513', 'score': 46.54}, {'connected_gene': 'TBL3', 'score': 45.49}, {'connected_gene': 'SNORA64', 'score': 45.47}, {'connected_gene': 'UNKL', 'score': 44.65}, {'connected_gene': 'IFT140', 'score': 44.09}, {'connected_gene': 'RHOT2', 'score': 42.76}, {'connected_gene': 'LUC7L', 'score': 35.33}, {'connected_gene': 'NUBP2', 'score': 32.44}, {'connected_gene': 'ENSG00000260646', 'score': 29.3}, {'connected_gene': 'WASH4P', 'score': 25.31}, {'connected_gene': 'ENSG00000228779', 'score': 25.0}, {'connected_gene': 'ENSG00000262528', 'score': 23.8}, {'connected_gene': 'CCDC154', 'score': 23.76}, {'connected_gene': 'NME3', 'score': 23.06}, {'connected_gene': 'ENSG00000261207', 'score': 19.94}, {'connected_gene': 'CHTF18', 'score': 19.64}, {'connected_gene': 'CLCN7', 'score': 19.1}, {'connected_gene': 'ENSG00000260022', 'score': 18.1}, {'connected_gene': 'SPSB3', 'score': 15.26}, {'connected_gene': 'AXIN1', 'score': 14.97}, {'connected_gene': 'MPG', 'score': 12.93}, {'connected_gene': 'ENSG00000269482', 'score': 12.41}, {'connected_gene': 'RHBDF1', 'score': 11.45}, {'connected_gene': 'RNF151', 'score': 11.32}, {'connected_gene': 'CAPN15', 'score': 11.19}, {'connected_gene': 'PIGQ', 'score': 11.14}, {'connected_gene': 'LOC100134368', 'score': 11.06}, {'connected_gene': 'ENSG00000259840', 'score': 10.62}, {'connected_gene': 'C16orf91', 'score': 10.54}, {'connected_gene': 'ENSG00000268836', 'score': 10.42}, {'connected_gene': 'EME2', 'score': 9.94}]

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