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
ENST00000380903 [[50639407, 50640019], [50644745, 50644949], [50646964, 50647145], [50648609, 50648740], [50649059, 50649340], [50654145, 50654296], [50655119, 50655305], [50655400, 50655557], [50655633, 50656045]] [[50639465, 50640019], [50644745, 50644949], [50646964, 50647145], [50648609, 50648740], [50649059, 50649340], [50654145, 50654296], [50655119, 50655305], [50655400, 50655557], [50655633, 50655798]]
ENST00000492092 [[50644870, 50644949], [50646916, 50647145], [50648609, 50648740], [50649059, 50649340], [50654145, 50654296], [50655119, 50655305], [50655400, 50655557], [50655633, 50656045]] None
NM_031454 [[50639407, 50640019], [50644745, 50644949], [50646964, 50647145], [50648609, 50648740], [50649059, 50649340], [50654145, 50654296], [50655119, 50655305], [50655400, 50655557], [50655633, 50656045]] [[50639465, 50640019], [50644745, 50644949], [50646964, 50647145], [50648609, 50648740], [50649059, 50649340], [50654145, 50654296], [50655119, 50655305], [50655400, 50655557], [50655633, 50655798]]
Promoter
Chrom Start End Description
chr22 50639422 50639479 CAGE_peak_1_at_SELO_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr22 GH22I049851 49851262 49856322 2.4 [{'connected_gene': 'ZBED4', 'score': 552.38}, {'connected_gene': 'LOC105377205', 'score': 19.61}, {'connected_gene': 'RABL2B', 'score': 15.29}, {'connected_gene': 'HDAC10', 'score': 7.4}, {'connected_gene': 'CRELD2', 'score': 6.69}, {'connected_gene': 'TUBGCP6', 'score': 3.74}, {'connected_gene': 'BRD1', 'score': 2.08}, {'connected_gene': 'PIM3', 'score': 1.37}, {'connected_gene': 'SELENOO', 'score': 1.31}, {'connected_gene': 'TRABD', 'score': 1.29}, {'connected_gene': 'MOV10L1', 'score': 1.21}, {'connected_gene': 'GC22P049850', 'score': 0.77}, {'connected_gene': 'ENSG00000279494', 'score': 0.77}]
chr22 GH22I050242 50242800 50247101 2.27 [{'connected_gene': 'TUBGCP6', 'score': 550.77}, {'connected_gene': 'MAPK12', 'score': 22.51}, {'connected_gene': 'SELENOO', 'score': 15.62}, {'connected_gene': 'RABL2B', 'score': 12.63}, {'connected_gene': 'LOC105377205', 'score': 10.54}, {'connected_gene': 'HDAC10', 'score': 5.83}, {'connected_gene': 'MLC1', 'score': 5.81}, {'connected_gene': 'LOC105373095', 'score': 0.29}]
chr22 GH22I050698 50698611 50701723 1.6 [{'connected_gene': 'SHANK3', 'score': 6.23}, {'connected_gene': 'RABL2B', 'score': 4.32}, {'connected_gene': 'SELENOO', 'score': 4.01}, {'connected_gene': 'RNU6-409P', 'score': 0.44}, {'connected_gene': 'GC22M050692', 'score': 0.44}, {'connected_gene': 'LOC105373100', 'score': 0.28}]
chr22 GH22I050241 50241684 50241821 0.87 [{'connected_gene': 'SELENOO', 'score': 2.48}, {'connected_gene': 'TUBGCP6', 'score': 0.77}, {'connected_gene': 'LOC105373095', 'score': 0.29}]
chr22 GH22I050182 50182852 50183001 0.4 [{'connected_gene': 'SELENOO', 'score': 11.19}, {'connected_gene': 'TRABD', 'score': 0.77}, {'connected_gene': 'PANX2', 'score': 0.39}]
chr22 GH22I050173 50173201 50173800 0.49 [{'connected_gene': 'SELENOO', 'score': 8.7}, {'connected_gene': 'PANX2', 'score': 0.77}, {'connected_gene': 'TRABD', 'score': 0.39}]
chr22 GH22I050275 50275752 50276915 0.94 [{'connected_gene': 'SELENOO', 'score': 6.44}, {'connected_gene': 'MAPK11', 'score': 5.7}, {'connected_gene': 'ENSG00000272821', 'score': 5.18}, {'connected_gene': 'PIR50517', 'score': 0.44}, {'connected_gene': 'PLXNB2', 'score': 0.29}]
chr22 GH22I049927 49927956 49932120 1.31 [{'connected_gene': 'SELENOO', 'score': 11.51}, {'connected_gene': 'MLC1', 'score': 11.08}, {'connected_gene': 'ALG12', 'score': 11.01}, {'connected_gene': 'LOC105377205', 'score': 10.75}, {'connected_gene': 'CRELD2', 'score': 8.07}, {'connected_gene': 'TUBGCP6', 'score': 7.48}, {'connected_gene': 'SYCE3', 'score': 5.08}, {'connected_gene': 'GC22P049927', 'score': 0.77}, {'connected_gene': 'ENSG00000278869', 'score': 0.77}]
chr22 GH22I050188 50188255 50193903 2.48 [{'connected_gene': 'TRABD', 'score': 562.15}, {'connected_gene': 'ENSG00000273188', 'score': 550.77}, {'connected_gene': 'TUBGCP6', 'score': 34.13}, {'connected_gene': 'MAPK12', 'score': 22.5}, {'connected_gene': 'HDAC10', 'score': 18.76}, {'connected_gene': 'BRD1', 'score': 18.26}, {'connected_gene': 'ENSG00000273253', 'score': 15.04}, {'connected_gene': 'MAPK11', 'score': 13.13}, {'connected_gene': 'PLXNB2', 'score': 13.07}, {'connected_gene': 'MLC1', 'score': 10.67}, {'connected_gene': 'LOC105373095', 'score': 8.09}, {'connected_gene': 'CHKB', 'score': 7.88}, {'connected_gene': 'PANX2', 'score': 6.83}, {'connected_gene': 'SCO2', 'score': 4.76}, {'connected_gene': 'PIM3', 'score': 4.47}, {'connected_gene': 'ZBED4', 'score': 3.27}, {'connected_gene': 'ODF3B', 'score': 3.08}, {'connected_gene': 'SELENOO', 'score': 3.05}, {'connected_gene': 'NCAPH2', 'score': 2.88}, {'connected_gene': 'TYMP', 'score': 2.42}, {'connected_gene': 'PPP6R2', 'score': 2.22}, {'connected_gene': 'ARSA', 'score': 2.02}, {'connected_gene': 'SBF1', 'score': 1.23}]
chr22 GH22I050183 50183852 50187794 2.39 [{'connected_gene': 'TRABD', 'score': 560.75}, {'connected_gene': 'SELENOO', 'score': 16.68}, {'connected_gene': 'ENSG00000273253', 'score': 15.01}, {'connected_gene': 'PANX2', 'score': 9.27}, {'connected_gene': 'LOC105373095', 'score': 8.43}, {'connected_gene': 'MAPK12', 'score': 8.3}, {'connected_gene': 'BRD1', 'score': 6.48}, {'connected_gene': 'SCO2', 'score': 5.23}, {'connected_gene': 'TUBGCP6', 'score': 4.75}, {'connected_gene': 'PIM3', 'score': 3.44}, {'connected_gene': 'CHKB', 'score': 3.39}, {'connected_gene': 'HDAC10', 'score': 2.81}, {'connected_gene': 'ODF3B', 'score': 2.61}, {'connected_gene': 'ZBED4', 'score': 2.13}, {'connected_gene': 'PPP6R2', 'score': 1.88}, {'connected_gene': 'NCAPH2', 'score': 1.81}, {'connected_gene': 'ARSA', 'score': 1.7}, {'connected_gene': 'SBF1', 'score': 1.11}]
chr22 GH22I049942 49942511 49955971 1.74 [{'connected_gene': 'ALG12', 'score': 26.1}, {'connected_gene': 'ENSG00000272836', 'score': 19.94}, {'connected_gene': 'RABL2B', 'score': 19.59}, {'connected_gene': 'PLXNB2', 'score': 17.65}, {'connected_gene': 'TUBGCP6', 'score': 17.21}, {'connected_gene': 'ZBED4', 'score': 15.17}, {'connected_gene': 'LMF2', 'score': 15.13}, {'connected_gene': 'NCAPH2', 'score': 13.81}, {'connected_gene': 'CHKB', 'score': 13.35}, {'connected_gene': 'BRD1', 'score': 12.04}, {'connected_gene': 'LOC105373095', 'score': 12.02}, {'connected_gene': 'PIM3', 'score': 10.65}, {'connected_gene': 'PANX2', 'score': 10.58}, {'connected_gene': 'ENSG00000273192', 'score': 10.45}, {'connected_gene': 'MLC1', 'score': 10.29}, {'connected_gene': 'TRABD', 'score': 10.02}, {'connected_gene': 'CRELD2', 'score': 7.95}, {'connected_gene': 'LOC105377205', 'score': 6.28}, {'connected_gene': 'PPP6R2', 'score': 5.25}, {'connected_gene': 'CPT1B', 'score': 4.29}, {'connected_gene': 'SELENOO', 'score': 2.49}, {'connected_gene': 'HDAC10', 'score': 1.35}, {'connected_gene': 'ENSG00000278869', 'score': 0.37}]
chr22 GH22I050152 50152457 50152594 0.39 [{'connected_gene': 'SYCE3', 'score': 42.92}, {'connected_gene': 'MOV10L1', 'score': 28.26}, {'connected_gene': 'MLC1', 'score': 17.15}, {'connected_gene': 'SELENOO', 'score': 12.42}, {'connected_gene': 'CPT1B', 'score': 10.76}, {'connected_gene': 'MIOX', 'score': 1.79}, {'connected_gene': 'PANX2', 'score': 0.37}, {'connected_gene': 'ENSG00000280395', 'score': 0.22}]
chr22 GH22I050467 50467903 50475754 2.48 [{'connected_gene': 'SBF1', 'score': 553.17}, {'connected_gene': 'TUBGCP6', 'score': 9.09}, {'connected_gene': 'CPT1B', 'score': 6.09}, {'connected_gene': 'DENND6B', 'score': 5.49}, {'connected_gene': 'MIOX', 'score': 5.48}, {'connected_gene': 'RPL23AP82', 'score': 5.0}, {'connected_gene': 'PLXNB2', 'score': 4.65}, {'connected_gene': 'RABL2B', 'score': 4.15}, {'connected_gene': 'CHKB', 'score': 4.04}, {'connected_gene': 'HDAC10', 'score': 3.53}, {'connected_gene': 'NCAPH2', 'score': 2.36}, {'connected_gene': 'TRABD', 'score': 2.14}, {'connected_gene': 'PPP6R2', 'score': 1.77}, {'connected_gene': 'IL17REL', 'score': 1.35}, {'connected_gene': 'SELENOO', 'score': 1.17}, {'connected_gene': 'GC22P050437', 'score': 0.28}, {'connected_gene': 'PIR32267', 'score': 0.28}, {'connected_gene': 'GC22P050436', 'score': 0.28}]
chr22 GH22I050267 50267392 50268445 0.86 [{'connected_gene': 'MAPK12', 'score': 8.95}, {'connected_gene': 'SELENOO', 'score': 7.14}, {'connected_gene': 'ENSG00000273253', 'score': 4.93}, {'connected_gene': 'MAPK11', 'score': 0.77}]
chr22 GH22I050260 50260030 50263323 1.91 [{'connected_gene': 'MAPK12', 'score': 560.9}, {'connected_gene': 'SELENOO', 'score': 13.15}, {'connected_gene': 'RABL2B', 'score': 12.68}, {'connected_gene': 'LOC105377205', 'score': 9.77}, {'connected_gene': 'PPP6R2', 'score': 7.39}, {'connected_gene': 'ENSG00000235111', 'score': 5.85}, {'connected_gene': 'ENSG00000273253', 'score': 5.36}, {'connected_gene': 'HDAC10', 'score': 0.39}]
chr22 GH22I050149 50148001 50148200 0.2 [{'connected_gene': 'PANX2', 'score': 12.86}, {'connected_gene': 'TUBGCP6', 'score': 12.53}, {'connected_gene': 'HDAC10', 'score': 12.52}, {'connected_gene': 'SELENOO', 'score': 12.52}, {'connected_gene': 'MAPK12', 'score': 12.51}, {'connected_gene': 'MAPK11', 'score': 12.5}, {'connected_gene': 'PLXNB2', 'score': 12.48}, {'connected_gene': 'MLC1', 'score': 11.4}, {'connected_gene': 'ENSG00000280395', 'score': 0.22}, {'connected_gene': 'MOV10L1', 'score': 0.22}]
chr22 GH22I050169 50169581 50170801 1.78 [{'connected_gene': 'PANX2', 'score': 554.46}, {'connected_gene': 'MAPK8IP2', 'score': 7.55}, {'connected_gene': 'DENND6B', 'score': 5.34}, {'connected_gene': 'MOV10L1', 'score': 3.33}, {'connected_gene': 'MLC1', 'score': 3.01}, {'connected_gene': 'SELENOO', 'score': 1.92}, {'connected_gene': 'ENSG00000280395', 'score': 0.18}]
chr22 GH22I050269 50269672 50271541 2.13 [{'connected_gene': 'MAPK11', 'score': 550.77}, {'connected_gene': 'ENSG00000273253', 'score': 9.97}, {'connected_gene': 'MAPK12', 'score': 6.78}, {'connected_gene': 'PPP6R2', 'score': 5.27}, {'connected_gene': 'SELENOO', 'score': 4.94}]
chr22 GH22I050140 50140052 50140181 0.76 [{'connected_gene': 'MOV10L1', 'score': 17.1}, {'connected_gene': 'PANX2', 'score': 12.98}, {'connected_gene': 'SELENOO', 'score': 12.93}, {'connected_gene': 'PLXNB2', 'score': 12.36}, {'connected_gene': 'MLC1', 'score': 11.82}, {'connected_gene': 'ENSG00000280395', 'score': 0.25}]
chr22 GH22I050377 50377116 50377384 0.22 [{'connected_gene': 'MOV10L1', 'score': 2.41}, {'connected_gene': 'MAPK8IP2', 'score': 1.37}, {'connected_gene': 'SELENOO', 'score': 1.36}, {'connected_gene': 'DENND6B', 'score': 1.35}, {'connected_gene': 'GC22P050372', 'score': 0.44}, {'connected_gene': 'GC22P050399', 'score': 0.34}, {'connected_gene': 'PPP6R2', 'score': 0.29}]
chr22 GH22I049932 49932908 49939696 2.08 [{'connected_gene': 'PIM3', 'score': 16.71}, {'connected_gene': 'LOC105377205', 'score': 13.05}, {'connected_gene': 'SELENOO', 'score': 13.0}, {'connected_gene': 'MLC1', 'score': 10.74}, {'connected_gene': 'ALG12', 'score': 10.66}, {'connected_gene': 'CRELD2', 'score': 8.65}, {'connected_gene': 'PANX2', 'score': 3.55}, {'connected_gene': 'HDAC10', 'score': 3.37}, {'connected_gene': 'BRD1', 'score': 2.95}, {'connected_gene': 'TRABD', 'score': 2.77}, {'connected_gene': 'MAPK11', 'score': 1.38}, {'connected_gene': 'MAPK12', 'score': 1.28}, {'connected_gene': 'TUBGCP6', 'score': 1.19}, {'connected_gene': 'ENSG00000278869', 'score': 0.77}]
chr22 GH22I050619 50619993 50623719 1.59 [{'connected_gene': 'ARSA', 'score': 31.13}, {'connected_gene': 'CPT1B', 'score': 15.29}, {'connected_gene': 'CHKB', 'score': 13.7}, {'connected_gene': 'TUBGCP6', 'score': 12.88}, {'connected_gene': 'SYCE3', 'score': 11.93}, {'connected_gene': 'MAPK8IP2', 'score': 8.67}, {'connected_gene': 'HDAC10', 'score': 4.56}, {'connected_gene': 'NCAPH2', 'score': 3.3}, {'connected_gene': 'PPP6R2', 'score': 2.36}, {'connected_gene': 'SBF1', 'score': 1.9}, {'connected_gene': 'TRABD', 'score': 1.57}, {'connected_gene': 'SELENOO', 'score': 1.27}, {'connected_gene': 'PIR50047', 'score': 0.77}, {'connected_gene': 'GC22P050611', 'score': 0.39}]
chr22 GH22I050111 50111809 50116210 1.32 [{'connected_gene': 'MLC1', 'score': 33.3}, {'connected_gene': 'MOV10L1', 'score': 18.59}, {'connected_gene': 'SELENOO', 'score': 12.22}, {'connected_gene': 'ENSG00000280395', 'score': 0.34}, {'connected_gene': 'PANX2', 'score': 0.22}]
chr22 GH22I050084 50084401 50087760 1.36 [{'connected_gene': 'MLC1', 'score': 586.78}, {'connected_gene': 'MOV10L1', 'score': 23.2}, {'connected_gene': 'SELENOO', 'score': 10.8}, {'connected_gene': 'RABL2B', 'score': 4.08}]
chr22 GH22I050145 50145467 50147800 1.05 [{'connected_gene': 'MLC1', 'score': 21.67}, {'connected_gene': 'MOV10L1', 'score': 19.08}, {'connected_gene': 'MAPK12', 'score': 17.48}, {'connected_gene': 'PANX2', 'score': 12.86}, {'connected_gene': 'TUBGCP6', 'score': 12.53}, {'connected_gene': 'HDAC10', 'score': 12.52}, {'connected_gene': 'SELENOO', 'score': 12.52}, {'connected_gene': 'MAPK11', 'score': 12.5}, {'connected_gene': 'PLXNB2', 'score': 12.47}, {'connected_gene': 'ENSG00000280395', 'score': 0.23}]
chr22 GH22I050148 50148829 50149618 1.02 [{'connected_gene': 'MLC1', 'score': 36.73}, {'connected_gene': 'MOV10L1', 'score': 18.92}, {'connected_gene': 'PANX2', 'score': 12.86}, {'connected_gene': 'TUBGCP6', 'score': 12.53}, {'connected_gene': 'HDAC10', 'score': 12.52}, {'connected_gene': 'SELENOO', 'score': 12.52}, {'connected_gene': 'MAPK12', 'score': 12.51}, {'connected_gene': 'MAPK11', 'score': 12.5}, {'connected_gene': 'PLXNB2', 'score': 12.48}, {'connected_gene': 'TRABD', 'score': 7.09}, {'connected_gene': 'ENSG00000280395', 'score': 0.22}]
chr22 GH22I050117 50117181 50120277 1.38 [{'connected_gene': 'MLC1', 'score': 32.28}, {'connected_gene': 'MOV10L1', 'score': 25.16}, {'connected_gene': 'ENSG00000273253', 'score': 14.81}, {'connected_gene': 'PANX2', 'score': 11.9}, {'connected_gene': 'SELENOO', 'score': 10.4}, {'connected_gene': 'LMF2', 'score': 9.73}, {'connected_gene': 'ENSG00000280395', 'score': 0.31}]
chr22 GH22I050056 50056256 50062000 0.92 [{'connected_gene': 'TTLL8', 'score': 550.77}, {'connected_gene': 'ENSG00000273253', 'score': 16.3}, {'connected_gene': 'MOV10L1', 'score': 13.02}, {'connected_gene': 'SELENOO', 'score': 8.57}, {'connected_gene': 'ARSA', 'score': 4.5}, {'connected_gene': 'MLC1', 'score': 0.31}, {'connected_gene': 'IL17REL', 'score': 0.25}]
chr22 GH22I050215 50215103 50215910 0.54 [{'connected_gene': 'LOC105373095', 'score': 10.16}, {'connected_gene': 'SELENOO', 'score': 0.39}, {'connected_gene': 'TUBGCP6', 'score': 0.31}]
chr22 GH22I050209 50209262 50210601 0.88 [{'connected_gene': 'LOC105373095', 'score': 556.61}, {'connected_gene': 'MLC1', 'score': 10.69}, {'connected_gene': 'SELENOO', 'score': 10.38}, {'connected_gene': 'MOV10L1', 'score': 8.13}, {'connected_gene': 'PANX2', 'score': 4.86}, {'connected_gene': 'ENSG00000272836', 'score': 0.77}]
chr22 GH22I050199 50199596 50202463 2.1 [{'connected_gene': 'ENSG00000273253', 'score': 577.6}, {'connected_gene': 'SELENOO', 'score': 571.39}, {'connected_gene': 'PIR51711', 'score': 550.77}, {'connected_gene': 'TUBGCP6', 'score': 12.1}, {'connected_gene': 'HDAC10', 'score': 12.07}, {'connected_gene': 'MAPK12', 'score': 12.05}, {'connected_gene': 'MAPK11', 'score': 12.04}, {'connected_gene': 'PLXNB2', 'score': 11.98}, {'connected_gene': 'MLC1', 'score': 10.66}, {'connected_gene': 'TRABD', 'score': 10.54}, {'connected_gene': 'PANX2', 'score': 5.08}, {'connected_gene': 'CHKB', 'score': 4.48}, {'connected_gene': 'ENSG00000272836', 'score': 0.44}]
chr22 GH22I050204 50204401 50205757 1.06 [{'connected_gene': 'ENSG00000272836', 'score': 550.77}, {'connected_gene': 'SELENOO', 'score': 19.29}, {'connected_gene': 'ALG12', 'score': 12.37}, {'connected_gene': 'PLXNB2', 'score': 10.83}, {'connected_gene': 'HDAC10', 'score': 5.45}, {'connected_gene': 'PANX2', 'score': 4.99}]
chr22 GH22I050219 50219012 50220211 0.95 [{'connected_gene': 'ENSG00000273253', 'score': 18.44}, {'connected_gene': 'SELENOO', 'score': 17.43}, {'connected_gene': 'MLC1', 'score': 9.43}, {'connected_gene': 'LOC105373095', 'score': 0.44}, {'connected_gene': 'TUBGCP6', 'score': 0.31}]
chr22 GH22I050205 50205948 50206920 0.92 [{'connected_gene': 'ENSG00000272836', 'score': 550.77}, {'connected_gene': 'SELENOO', 'score': 19.18}, {'connected_gene': 'LOC105373095', 'score': 9.45}, {'connected_gene': 'HDAC10', 'score': 5.79}]

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