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
ENST00000366835 [[226033236, 226034633], [226034734, 226034914], [226036192, 226036255], [226036597, 226036713], [226037612, 226037780], [226040364, 226040470], [226041329, 226041492], [226043578, 226043641], [226044352, 226044439], [226044610, 226044717], [226046895, 226047049], [226048559, 226048697], [226049917, 226050051], [226050154, 226050278], [226050470, 226050551], [226053596, 226053667], [226054273, 226054382], [226054811, 226054863], [226055587, 226055730], [226058775, 226058813], [226059686, 226059753], [226061987, 226062067], [226065094, 226065294], [226066919, 226067110], [226070003, 226070069]] [[226034740, 226034914], [226036192, 226036255], [226036597, 226036713], [226037612, 226037780], [226040364, 226040470], [226041329, 226041492], [226043578, 226043641], [226044352, 226044439], [226044610, 226044717], [226046895, 226047049], [226048559, 226048697], [226049917, 226050051], [226050154, 226050278], [226050470, 226050551], [226053596, 226053667], [226054273, 226054382], [226054811, 226054863], [226055587, 226055730], [226058775, 226058813], [226059686, 226059753], [226061987, 226062067], [226065094, 226065280]]
ENST00000496025 [[226034276, 226034633], [226034734, 226035166]] None
ENST00000482753 [[226034839, 226034914], [226035910, 226036085], [226036192, 226036255], [226036597, 226036689]] None
ENST00000487971 [[226044404, 226044439], [226044610, 226044717], [226046895, 226047241]] None
ENST00000474478 [[226047362, 226050051], [226050154, 226050278], [226050470, 226050799], [226051646, 226053911]] None
ENST00000537914 [[226048423, 226048697], [226049917, 226050051], [226050154, 226050278], [226050470, 226050551], [226053596, 226053750], [226053832, 226053908], [226054273, 226054448]] [[226048555, 226048697], [226049917, 226050024]]
ENST00000483779 [[226050239, 226050278], [226050470, 226050551], [226053596, 226054110]] None
ENST00000436966 [[226058791, 226058813], [226059686, 226059753], [226061987, 226062067], [226065094, 226065379]] [[226058791, 226058813], [226059686, 226059753], [226061987, 226062067], [226065094, 226065280]]
ENST00000487817 [[226059273, 226059753], [226061987, 226062067], [226065094, 226065194]] None
NM_014698 [[226033232, 226034633], [226034734, 226034914], [226036192, 226036255], [226036597, 226036713], [226037612, 226037780], [226040364, 226040470], [226041329, 226041492], [226043578, 226043641], [226044352, 226044439], [226044610, 226044717], [226046895, 226047049], [226048559, 226048697], [226049917, 226050051], [226050154, 226050278], [226050470, 226050551], [226053596, 226053667], [226054273, 226054382], [226054811, 226054863], [226055587, 226055730], [226058775, 226058813], [226059686, 226059753], [226061987, 226062067], [226065094, 226065294], [226066919, 226067110], [226070003, 226070420]] [[226034740, 226034914], [226036192, 226036255], [226036597, 226036713], [226037612, 226037780], [226040364, 226040470], [226041329, 226041492], [226043578, 226043641], [226044352, 226044439], [226044610, 226044717], [226046895, 226047049], [226048559, 226048697], [226049917, 226050051], [226050154, 226050278], [226050470, 226050551], [226053596, 226053667], [226054273, 226054382], [226054811, 226054863], [226055587, 226055730], [226058775, 226058813], [226059686, 226059753], [226061987, 226062067], [226065094, 226065280]]
Promoter
Chrom Start End Description
chr1 226053906 226053913 CAGE_peak_14_at_TMEM63A_5end
chr1 226065305 226065322 CAGE_peak_5_at_TMEM63A_5end
chr1 226065330 226065386 CAGE_peak_2_at_TMEM63A_5end
chr1 226065387 226065402 CAGE_peak_6_at_TMEM63A_5end
chr1 226065409 226065416 CAGE_peak_8_at_TMEM63A_5end
chr1 226065466 226065485 CAGE_peak_4_at_TMEM63A_5end
chr1 226070016 226070087 CAGE_peak_1_at_TMEM63A_5end
chr1 226070088 226070107 CAGE_peak_3_at_TMEM63A_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I225874 225874118 225884202 2.72 [{'connected_gene': 'TMEM63A', 'score': 566.63}, {'connected_gene': 'LEFTY2', 'score': 23.37}, {'connected_gene': 'ACBD3', 'score': 19.16}, {'connected_gene': 'PYCR2', 'score': 16.94}, {'connected_gene': 'LEFTY1', 'score': 12.6}, {'connected_gene': 'ENSG00000255835', 'score': 11.62}, {'connected_gene': 'ENSG00000248322', 'score': 11.59}, {'connected_gene': 'SDE2', 'score': 10.44}, {'connected_gene': 'H3F3A', 'score': 4.61}, {'connected_gene': 'ENSG00000242861', 'score': 0.29}]
chr1 GH01I225851 225851320 225853062 0.93 [{'connected_gene': 'TMEM63A', 'score': 27.2}, {'connected_gene': 'LEFTY2', 'score': 19.77}, {'connected_gene': 'PYCR2', 'score': 16.47}, {'connected_gene': 'ENSG00000255835', 'score': 11.45}, {'connected_gene': 'ENSG00000248322', 'score': 11.43}, {'connected_gene': 'LEFTY1', 'score': 10.96}, {'connected_gene': 'ENSG00000242861', 'score': 0.44}]
chr1 GH01I225821 225820387 225821032 0.66 [{'connected_gene': 'TMEM63A', 'score': 11.72}, {'connected_gene': 'ENSG00000255835', 'score': 11.17}, {'connected_gene': 'PYCR2', 'score': 11.17}, {'connected_gene': 'ENSG00000248322', 'score': 11.14}, {'connected_gene': 'LEFTY2', 'score': 11.14}, {'connected_gene': 'LEFTY1', 'score': 10.78}, {'connected_gene': 'ITPKB', 'score': 4.23}, {'connected_gene': 'GC01P225813', 'score': 0.44}, {'connected_gene': 'EPHX1', 'score': 0.39}, {'connected_gene': 'ENSG00000242861', 'score': 0.31}]
chr1 GH01I225815 225815801 225819000 1.33 [{'connected_gene': 'TMEM63A', 'score': 11.72}, {'connected_gene': 'ENSG00000255835', 'score': 11.68}, {'connected_gene': 'PYCR2', 'score': 11.68}, {'connected_gene': 'ENSG00000248322', 'score': 11.66}, {'connected_gene': 'LEFTY2', 'score': 11.66}, {'connected_gene': 'LEFTY1', 'score': 10.96}, {'connected_gene': 'EPHX1', 'score': 8.56}, {'connected_gene': 'ITPKB', 'score': 4.87}, {'connected_gene': 'GC01P225813', 'score': 0.44}, {'connected_gene': 'ENSG00000242861', 'score': 0.31}]
chr1 GH01I225820 225819635 225819683 0.43 [{'connected_gene': 'TMEM63A', 'score': 11.72}, {'connected_gene': 'ENSG00000255835', 'score': 11.17}, {'connected_gene': 'PYCR2', 'score': 11.17}, {'connected_gene': 'ENSG00000248322', 'score': 11.14}, {'connected_gene': 'LEFTY2', 'score': 11.14}, {'connected_gene': 'LEFTY1', 'score': 10.78}, {'connected_gene': 'EPHX1', 'score': 0.44}, {'connected_gene': 'GC01P225813', 'score': 0.44}, {'connected_gene': 'ENSG00000242861', 'score': 0.31}]
chr1 GH01I225819 225819801 225820000 0.51 [{'connected_gene': 'TMEM63A', 'score': 11.72}, {'connected_gene': 'ENSG00000255835', 'score': 11.17}, {'connected_gene': 'PYCR2', 'score': 11.17}, {'connected_gene': 'ENSG00000248322', 'score': 11.14}, {'connected_gene': 'LEFTY2', 'score': 11.14}, {'connected_gene': 'LEFTY1', 'score': 10.78}, {'connected_gene': 'EPHX1', 'score': 0.44}, {'connected_gene': 'GC01P225813', 'score': 0.44}, {'connected_gene': 'ENSG00000242861', 'score': 0.31}]
chr1 GH01I225854 225854813 225858554 0.43 [{'connected_gene': 'TMEM63A', 'score': 26.49}, {'connected_gene': 'PYCR2', 'score': 26.37}, {'connected_gene': 'LEFTY1', 'score': 22.04}, {'connected_gene': 'LEFTY2', 'score': 20.0}, {'connected_gene': 'ENSG00000255835', 'score': 11.46}, {'connected_gene': 'ENSG00000248322', 'score': 11.44}, {'connected_gene': 'LEFTY3', 'score': 4.68}, {'connected_gene': 'ENSG00000242861', 'score': 0.39}]
chr1 GH01I225895 225895885 225900310 1.6 [{'connected_gene': 'TMEM63A', 'score': 20.11}, {'connected_gene': 'LEFTY1', 'score': 14.81}, {'connected_gene': 'LEFTY2', 'score': 9.04}, {'connected_gene': 'LBR', 'score': 7.36}, {'connected_gene': 'SDE2', 'score': 6.38}, {'connected_gene': 'H3F3A', 'score': 1.91}, {'connected_gene': 'ENSG00000255835', 'score': 0.31}]
chr1 GH01I225865 225865215 225867346 0.69 [{'connected_gene': 'LEFTY2', 'score': 16.19}, {'connected_gene': 'PYCR2', 'score': 16.12}, {'connected_gene': 'TMEM63A', 'score': 12.89}, {'connected_gene': 'LEFTY1', 'score': 11.94}, {'connected_gene': 'ENSG00000255835', 'score': 11.1}, {'connected_gene': 'ENSG00000248322', 'score': 11.07}, {'connected_gene': 'ENSG00000242861', 'score': 0.37}]
chr1 GH01I225868 225868487 225869815 0.38 [{'connected_gene': 'LEFTY2', 'score': 20.18}, {'connected_gene': 'PYCR2', 'score': 16.52}, {'connected_gene': 'TMEM63A', 'score': 12.13}, {'connected_gene': 'LEFTY1', 'score': 11.95}, {'connected_gene': 'ENSG00000255835', 'score': 11.52}, {'connected_gene': 'ENSG00000248322', 'score': 11.5}, {'connected_gene': 'ENSG00000242861', 'score': 0.34}]
chr1 GH01I225837 225837864 225845225 0.64 [{'connected_gene': 'LEFTY2', 'score': 19.37}, {'connected_gene': 'PYCR2', 'score': 16.25}, {'connected_gene': 'ENSG00000255835', 'score': 10.83}, {'connected_gene': 'ENSG00000248322', 'score': 10.81}, {'connected_gene': 'LEFTY1', 'score': 9.31}, {'connected_gene': 'TMEM63A', 'score': 6.03}, {'connected_gene': 'ENAH', 'score': 4.55}, {'connected_gene': 'ENSG00000242861', 'score': 0.77}, {'connected_gene': 'EPHX1', 'score': 0.29}, {'connected_gene': 'GC01P225813', 'score': 0.29}]
chr1 GH01I225861 225861289 225863857 0.62 [{'connected_gene': 'LEFTY2', 'score': 19.54}, {'connected_gene': 'LEFTY1', 'score': 16.6}, {'connected_gene': 'PYCR2', 'score': 16.44}, {'connected_gene': 'TMEM63A', 'score': 12.21}, {'connected_gene': 'ENSG00000255835', 'score': 11.09}, {'connected_gene': 'ENSG00000248322', 'score': 11.07}, {'connected_gene': 'ENSG00000242861', 'score': 0.37}]
chr1 GH01I225939 225939153 225942201 1.56 [{'connected_gene': 'LEFTY2', 'score': 572.24}, {'connected_gene': 'LEFTY1', 'score': 6.72}, {'connected_gene': 'PYCR2', 'score': 5.56}, {'connected_gene': 'TMEM63A', 'score': 4.28}, {'connected_gene': 'ENSG00000248322', 'score': 0.77}]
chr1 GH01I225926 225926378 225927432 0.78 [{'connected_gene': 'PYCR2', 'score': 6.28}, {'connected_gene': 'TMEM63A', 'score': 5.26}, {'connected_gene': 'ENSG00000248322', 'score': 0.39}]
chr1 GH01I225908 225908283 225908975 0.46 [{'connected_gene': 'PYCR2', 'score': 21.26}, {'connected_gene': 'LEFTY1', 'score': 0.77}, {'connected_gene': 'ENSG00000255835', 'score': 0.37}, {'connected_gene': 'TMEM63A', 'score': 0.31}]
chr1 GH01I225822 225822719 225828026 2.11 [{'connected_gene': 'EPHX1', 'score': 590.62}, {'connected_gene': 'TMEM63A', 'score': 11.74}, {'connected_gene': 'LEFTY1', 'score': 11.43}, {'connected_gene': 'ENSG00000255835', 'score': 11.17}, {'connected_gene': 'PYCR2', 'score': 11.17}, {'connected_gene': 'ENSG00000248322', 'score': 11.15}, {'connected_gene': 'LEFTY2', 'score': 11.14}, {'connected_gene': 'LEFTY3', 'score': 6.53}, {'connected_gene': 'SRP9', 'score': 5.67}, {'connected_gene': 'GC01P225813', 'score': 0.39}, {'connected_gene': 'ENSG00000242861', 'score': 0.34}]
chr1 GH01I225995 225995876 226004719 2.69 [{'connected_gene': 'SDE2', 'score': 571.01}, {'connected_gene': 'ACBD3', 'score': 77.83}, {'connected_gene': 'ACBD3-AS1', 'score': 48.05}, {'connected_gene': 'H3F3A', 'score': 26.35}, {'connected_gene': 'LINC01703', 'score': 15.99}, {'connected_gene': 'ENAH', 'score': 10.94}, {'connected_gene': 'LOC105373110', 'score': 10.86}, {'connected_gene': 'TMEM63A', 'score': 4.02}, {'connected_gene': 'GC01M225948', 'score': 0.26}]
chr1 GH01I225887 225887290 225892040 1.75 [{'connected_gene': 'LEFTY1', 'score': 578.17}, {'connected_gene': 'PYCR2', 'score': 30.11}, {'connected_gene': 'LEFTY2', 'score': 23.5}, {'connected_gene': 'TMEM63A', 'score': 13.46}, {'connected_gene': 'ENSG00000255835', 'score': 12.02}, {'connected_gene': 'ENSG00000248322', 'score': 11.97}, {'connected_gene': 'DNAH14', 'score': 5.98}]
chr1 GH01I225886 225886829 225887174 0.54 [{'connected_gene': 'LEFTY1', 'score': 28.35}, {'connected_gene': 'ENSG00000255835', 'score': 12.0}, {'connected_gene': 'PYCR2', 'score': 12.0}, {'connected_gene': 'LEFTY2', 'score': 11.96}, {'connected_gene': 'ENSG00000248322', 'score': 11.96}, {'connected_gene': 'TMEM63A', 'score': 0.77}]
chr1 GH01I225870 225870938 225871463 0.68 [{'connected_gene': 'LINC01703', 'score': 15.89}, {'connected_gene': 'ENSG00000255835', 'score': 11.53}, {'connected_gene': 'PYCR2', 'score': 11.53}, {'connected_gene': 'LEFTY1', 'score': 11.5}, {'connected_gene': 'ENSG00000248322', 'score': 11.5}, {'connected_gene': 'LEFTY2', 'score': 11.49}, {'connected_gene': 'ENAH', 'score': 10.97}, {'connected_gene': 'TMEM63A', 'score': 0.39}, {'connected_gene': 'ENSG00000242861', 'score': 0.34}]
chr1 GH01I225871 225871561 225871710 0.87 [{'connected_gene': 'LINC01703', 'score': 15.89}, {'connected_gene': 'ENSG00000255835', 'score': 11.53}, {'connected_gene': 'PYCR2', 'score': 11.53}, {'connected_gene': 'LEFTY1', 'score': 11.52}, {'connected_gene': 'LEFTY2', 'score': 11.5}, {'connected_gene': 'ENSG00000248322', 'score': 11.5}, {'connected_gene': 'ENAH', 'score': 10.97}, {'connected_gene': 'TMEM63A', 'score': 0.39}, {'connected_gene': 'ENSG00000242861', 'score': 0.31}]
chr1 GH01I225459 225459755 225469289 1.75 [{'connected_gene': 'LOC105373110', 'score': 562.61}, {'connected_gene': 'ENSG00000282418', 'score': 550.77}, {'connected_gene': 'LBR', 'score': 56.31}, {'connected_gene': 'ACBD3', 'score': 13.87}, {'connected_gene': 'ACBD3-AS1', 'score': 10.86}, {'connected_gene': 'ENSG00000255835', 'score': 10.81}, {'connected_gene': 'PYCR2', 'score': 10.81}, {'connected_gene': 'LEFTY2', 'score': 10.81}, {'connected_gene': 'ENSG00000248322', 'score': 10.81}, {'connected_gene': 'ENAH', 'score': 6.89}, {'connected_gene': 'TMEM63A', 'score': 3.18}, {'connected_gene': 'GC01M225252', 'score': 0.31}]
chr1 GH01I225905 225905712 225906210 0.2 [{'connected_gene': 'ENSG00000248322', 'score': 11.89}, {'connected_gene': 'LEFTY2', 'score': 11.87}, {'connected_gene': 'LEFTY1', 'score': 0.44}, {'connected_gene': 'ENSG00000255835', 'score': 0.37}, {'connected_gene': 'TMEM63A', 'score': 0.34}]
chr1 GH01I225845 225845420 225845569 0.63 [{'connected_gene': 'ENSG00000242861', 'score': 550.77}, {'connected_gene': 'ENSG00000255835', 'score': 10.84}, {'connected_gene': 'PYCR2', 'score': 10.84}, {'connected_gene': 'ENSG00000248322', 'score': 10.81}, {'connected_gene': 'LEFTY2', 'score': 10.81}, {'connected_gene': 'GC01P225813', 'score': 0.29}, {'connected_gene': 'TMEM63A', 'score': 0.28}, {'connected_gene': 'EPHX1', 'score': 0.28}]
chr1 GH01I225846 225845726 225850709 1.33 [{'connected_gene': 'ENSG00000242861', 'score': 550.77}, {'connected_gene': 'PYCR2', 'score': 27.06}, {'connected_gene': 'LEFTY1', 'score': 22.7}, {'connected_gene': 'LEFTY2', 'score': 20.45}, {'connected_gene': 'TMEM63A', 'score': 19.48}, {'connected_gene': 'ACBD3', 'score': 12.87}, {'connected_gene': 'ENSG00000255835', 'score': 11.44}, {'connected_gene': 'ENSG00000248322', 'score': 11.43}, {'connected_gene': 'ACBD3-AS1', 'score': 10.38}]
chr1 GH01I225873 225873031 225873920 0.38 [{'connected_gene': 'ENSG00000255835', 'score': 11.53}, {'connected_gene': 'PYCR2', 'score': 11.53}, {'connected_gene': 'LEFTY1', 'score': 11.52}, {'connected_gene': 'ENSG00000248322', 'score': 11.5}, {'connected_gene': 'LEFTY2', 'score': 11.5}, {'connected_gene': 'TMEM63A', 'score': 0.44}, {'connected_gene': 'ENSG00000242861', 'score': 0.31}]
chr1 GH01I225872 225871881 225872030 0.51 [{'connected_gene': 'ENSG00000255835', 'score': 11.53}, {'connected_gene': 'PYCR2', 'score': 11.53}, {'connected_gene': 'LEFTY1', 'score': 11.52}, {'connected_gene': 'LEFTY2', 'score': 11.5}, {'connected_gene': 'ENSG00000248322', 'score': 11.5}, {'connected_gene': 'TMEM63A', 'score': 0.39}, {'connected_gene': 'ENSG00000242861', 'score': 0.31}]

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