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
ENST00000406697 [[7096350, 7096461], [7105316, 7105434], [7150264, 7150432], [7163344, 7163501], [7169142, 7169221], [7169778, 7169986], [7170193, 7170371], [7171570, 7171696], [7172403, 7172603], [7173120, 7173274], [7173821, 7173937], [7174342, 7174421], [7174946, 7175075], [7175759, 7175834], [7177158, 7178336]] [[7169216, 7169221], [7169778, 7169986], [7170193, 7170371], [7171570, 7171696], [7172403, 7172603], [7173120, 7173274], [7173821, 7173937], [7174342, 7174421], [7174946, 7175075], [7175759, 7175834], [7177158, 7177955]]
ENST00000328916 [[7167818, 7168181], [7169055, 7169221], [7169778, 7169986], [7170193, 7170371], [7171570, 7171696], [7172403, 7172603], [7173120, 7173274], [7173821, 7173937], [7174342, 7174421], [7174946, 7175075], [7175759, 7175834], [7177158, 7178336]] [[7169216, 7169221], [7169778, 7169986], [7170193, 7170371], [7171570, 7171696], [7172403, 7172603], [7173120, 7173274], [7173821, 7173937], [7174342, 7174421], [7174946, 7175075], [7175759, 7175834], [7177158, 7177955]]
ENST00000360817 [[7167979, 7168181], [7169142, 7169221], [7169778, 7169986], [7170193, 7170371], [7171570, 7171696], [7172403, 7172603], [7173120, 7173274], [7173821, 7173937], [7174342, 7174421], [7174946, 7175075], [7175759, 7175834], [7177158, 7178247]] [[7169216, 7169221], [7169778, 7169986], [7170193, 7170371], [7171570, 7171696], [7172403, 7172603], [7173120, 7173274], [7173821, 7173937], [7174342, 7174421], [7174946, 7175075], [7175759, 7175834], [7177158, 7177955]]
ENST00000402681 [[7167988, 7168181], [7169055, 7169221], [7170193, 7170371], [7171570, 7171696], [7172403, 7172603], [7173120, 7173274], [7173821, 7173937], [7174342, 7174421], [7174946, 7175075], [7175759, 7175834], [7177158, 7178264]] [[7171680, 7171696], [7172403, 7172603], [7173120, 7173274], [7173821, 7173937], [7174342, 7174421], [7174946, 7175075], [7175759, 7175834], [7177158, 7177955]]
ENST00000489541 [[7168020, 7168181], [7169142, 7169532]] None
ENST00000541647 [[7168026, 7168181], [7169055, 7169095], [7170193, 7170371], [7171570, 7171696], [7172403, 7172482]] None
ENST00000543187 [[7168028, 7168181], [7169142, 7169221], [7169778, 7170112]] None
ENST00000488701 [[7168047, 7168181], [7169055, 7169221], [7169778, 7170112]] None
ENST00000423384 [[7168515, 7168712], [7169142, 7169221], [7169778, 7169986], [7170193, 7170282]] [[7169216, 7169221], [7169778, 7169986], [7170193, 7170282]]
ENST00000413211 [[7168515, 7168712], [7169055, 7169221], [7169778, 7169986], [7170193, 7170289]] [[7169216, 7169221], [7169778, 7169986], [7170193, 7170289]]
ENST00000403949 [[7168687, 7169221], [7169778, 7169986], [7170193, 7170371], [7171570, 7171684]] [[7169216, 7169221], [7169778, 7169986], [7170193, 7170371], [7171570, 7171684]]
ENST00000443875 [[7169142, 7169221], [7169778, 7169986], [7170193, 7170371], [7171570, 7171696], [7172403, 7172603], [7173120, 7173274], [7173821, 7173937], [7174312, 7174421], [7174946, 7175075], [7175759, 7175834], [7177158, 7178334]] [[7169142, 7169221], [7169778, 7169986], [7170193, 7170371], [7171570, 7171696], [7172403, 7172603], [7173120, 7173274], [7173821, 7173937], [7174312, 7174318]]
ENST00000542978 [[7169886, 7169966], [7171570, 7171696], [7172403, 7172603], [7173120, 7173274], [7173821, 7173922]] [[7171680, 7171696], [7172403, 7172603], [7173120, 7173274], [7173821, 7173922]]
ENST00000495053 [[7171212, 7171696], [7172403, 7172603], [7173120, 7173202]] None
ENST00000463798 [[7171481, 7171696], [7172403, 7172716]] None
ENST00000473545 [[7172543, 7172603], [7173120, 7173617]] None
ENST00000470326 [[7173495, 7173937], [7174342, 7174421], [7174946, 7174966]] None
ENST00000461983 [[7173934, 7174421], [7174946, 7175075], [7175759, 7175834], [7177158, 7177417]] None
ENST00000495061 [[7174394, 7174421], [7174946, 7175075], [7175759, 7175834], [7175922, 7176137], [7177158, 7177544]] None
ENST00000497061 [[7174698, 7175075], [7175759, 7175834]] None
NM_001734 [[7167964, 7168181], [7169142, 7169221], [7169778, 7169986], [7170193, 7170371], [7171570, 7171696], [7172403, 7172603], [7173120, 7173274], [7173821, 7173937], [7174342, 7174421], [7174946, 7175075], [7175759, 7175834], [7177158, 7178336]] [[7169216, 7169221], [7169778, 7169986], [7170193, 7170371], [7171570, 7171696], [7172403, 7172603], [7173120, 7173274], [7173821, 7173937], [7174342, 7174421], [7174946, 7175075], [7175759, 7175834], [7177158, 7177955]]
NM_001346850 [[7167964, 7168181], [7169055, 7169221], [7170193, 7170371], [7171570, 7171696], [7172403, 7172603], [7173120, 7173274], [7173821, 7173937], [7174342, 7174421], [7174946, 7175075], [7175759, 7175834], [7177158, 7178336]] [[7171680, 7171696], [7172403, 7172603], [7173120, 7173274], [7173821, 7173937], [7174342, 7174421], [7174946, 7175075], [7175759, 7175834], [7177158, 7177955]]
NM_201442 [[7167964, 7168181], [7169055, 7169221], [7169778, 7169986], [7170193, 7170371], [7171570, 7171696], [7172403, 7172603], [7173120, 7173274], [7173821, 7173937], [7174342, 7174421], [7174946, 7175075], [7175759, 7175834], [7177158, 7178336]] [[7169216, 7169221], [7169778, 7169986], [7170193, 7170371], [7171570, 7171696], [7172403, 7172603], [7173120, 7173274], [7173821, 7173937], [7174342, 7174421], [7174946, 7175075], [7175759, 7175834], [7177158, 7177955]]
Promoter
Chrom Start End Description
chr12 7167997 7168040 CAGE_peak_1_at_C1S_5end
chr12 7168041 7168058 CAGE_peak_2_at_C1S_5end
chr12 7169135 7169146 CAGE_peak_14_at_C1S_5end
chr12 7169150 7169183 CAGE_peak_3_at_C1S_5end
chr12 7169188 7169199 CAGE_peak_12_at_C1S_5end
chr12 7169832 7169844 CAGE_peak_8_at_C1S_5end
chr12 7169889 7169902 CAGE_peak_6_at_C1S_5end
chr12 7169907 7169929 CAGE_peak_5_at_C1S_5end
chr12 7170214 7170228 CAGE_peak_9_at_C1S_5end
chr12 7170229 7170249 CAGE_peak_10_at_C1S_5end
chr12 7171627 7171662 CAGE_peak_4_at_C1S_5end
chr12 7172552 7172564 CAGE_peak_26_at_C1S_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I006762 6762790 6770018 2.61 [{'connected_gene': 'MLF2', 'score': 557.43}, {'connected_gene': 'PTMS', 'score': 552.92}, {'connected_gene': 'ENSG00000219410', 'score': 31.26}, {'connected_gene': 'ZNF384', 'score': 30.44}, {'connected_gene': 'CHD4', 'score': 28.54}, {'connected_gene': 'NCAPD2', 'score': 25.5}, {'connected_gene': 'EMG1', 'score': 21.1}, {'connected_gene': 'ENSG00000247853', 'score': 16.43}, {'connected_gene': 'PTPN6', 'score': 15.97}, {'connected_gene': 'SPSB2', 'score': 14.0}, {'connected_gene': 'GDF3', 'score': 11.46}, {'connected_gene': 'TNFRSF1A', 'score': 11.03}, {'connected_gene': 'C12orf57', 'score': 10.83}, {'connected_gene': 'C1RL-AS1', 'score': 10.71}, {'connected_gene': 'ENSG00000256967', 'score': 10.49}, {'connected_gene': 'PHB2', 'score': 10.44}, {'connected_gene': 'SCARNA12', 'score': 10.2}, {'connected_gene': 'P3H3', 'score': 10.16}, {'connected_gene': 'NOP2', 'score': 10.13}, {'connected_gene': 'LTBR', 'score': 10.02}, {'connected_gene': 'C1S', 'score': 9.84}, {'connected_gene': 'ENSG00000269892', 'score': 6.4}, {'connected_gene': 'COPS7A', 'score': 5.73}, {'connected_gene': 'ATN1', 'score': 2.51}, {'connected_gene': 'ENO2', 'score': 2.4}, {'connected_gene': 'PIANP', 'score': 2.05}, {'connected_gene': 'GPR162', 'score': 1.91}, {'connected_gene': 'CLSTN3', 'score': 1.27}]
chr12 GH12I006987 6987180 6988965 0.43 [{'connected_gene': 'C1S', 'score': 550.77}, {'connected_gene': 'GC12P007502', 'score': 0.44}, {'connected_gene': 'LPCAT3', 'score': 0.29}]
chr12 GH12I006989 6989069 6989218 0.38 [{'connected_gene': 'C1S', 'score': 550.77}, {'connected_gene': 'PIR35791', 'score': 0.44}, {'connected_gene': 'GC12M007000', 'score': 0.44}, {'connected_gene': 'LPCAT3', 'score': 0.31}]
chr12 GH12I006923 6923732 6930569 2.54 [{'connected_gene': 'ATN1', 'score': 557.39}, {'connected_gene': 'ZNF384', 'score': 48.77}, {'connected_gene': 'LRRC23', 'score': 40.16}, {'connected_gene': 'CHD4', 'score': 38.87}, {'connected_gene': 'ENSG00000219410', 'score': 37.11}, {'connected_gene': 'ENSG00000247853', 'score': 34.12}, {'connected_gene': 'SCARNA12', 'score': 30.39}, {'connected_gene': 'EMG1', 'score': 25.25}, {'connected_gene': 'PHB2', 'score': 21.46}, {'connected_gene': 'RPL13P5', 'score': 20.8}, {'connected_gene': 'NCAPD2', 'score': 14.09}, {'connected_gene': 'USP5', 'score': 13.17}, {'connected_gene': 'SPSB2', 'score': 13.09}, {'connected_gene': 'NOP2', 'score': 12.74}, {'connected_gene': 'MIR200CHG', 'score': 11.79}, {'connected_gene': 'MIR200C', 'score': 11.79}, {'connected_gene': 'MIR141', 'score': 11.79}, {'connected_gene': 'TPI1', 'score': 11.13}, {'connected_gene': 'C1S', 'score': 10.95}, {'connected_gene': 'GDF3', 'score': 10.89}, {'connected_gene': 'C1R', 'score': 10.32}, {'connected_gene': 'LAG3', 'score': 10.12}, {'connected_gene': 'C1RL-AS1', 'score': 10.08}, {'connected_gene': 'RBP5', 'score': 5.41}, {'connected_gene': 'PTMS', 'score': 2.23}, {'connected_gene': 'ACSM4', 'score': 1.37}, {'connected_gene': 'C12orf57', 'score': 0.37}]
chr12 GH12I006459 6459004 6465283 1.28 [{'connected_gene': 'ZNF384', 'score': 101.83}, {'connected_gene': 'ENSG00000219410', 'score': 89.06}, {'connected_gene': 'CHD4', 'score': 81.9}, {'connected_gene': 'ENSG00000247853', 'score': 68.25}, {'connected_gene': 'TAPBPL', 'score': 49.98}, {'connected_gene': 'MRPL51', 'score': 41.68}, {'connected_gene': 'NOP2', 'score': 38.06}, {'connected_gene': 'SCARNA12', 'score': 37.23}, {'connected_gene': 'VAMP1', 'score': 32.25}, {'connected_gene': 'P3H3', 'score': 26.86}, {'connected_gene': 'EMG1', 'score': 22.14}, {'connected_gene': 'ENSG00000256967', 'score': 21.53}, {'connected_gene': 'SPSB2', 'score': 20.15}, {'connected_gene': 'C12orf57', 'score': 19.14}, {'connected_gene': 'LRRC23', 'score': 19.05}, {'connected_gene': 'GNB3', 'score': 14.55}, {'connected_gene': 'NCAPD2', 'score': 13.23}, {'connected_gene': 'LAG3', 'score': 12.3}, {'connected_gene': 'C1RL-AS1', 'score': 11.91}, {'connected_gene': 'ENO2', 'score': 11.76}, {'connected_gene': 'RPL13P5', 'score': 10.71}, {'connected_gene': 'ENSG00000255966', 'score': 10.7}, {'connected_gene': 'GAPDH', 'score': 10.7}, {'connected_gene': 'ING4', 'score': 10.52}, {'connected_gene': 'DSTNP2', 'score': 10.5}, {'connected_gene': 'PHB2', 'score': 10.39}, {'connected_gene': 'PLEKHG6', 'score': 10.06}, {'connected_gene': 'C1S', 'score': 9.79}, {'connected_gene': 'ATN1', 'score': 9.74}, {'connected_gene': 'ENSG00000276718', 'score': 0.77}]
chr12 GH12I006686 6686974 6690652 2.07 [{'connected_gene': 'ZNF384', 'score': 589.01}, {'connected_gene': 'ENSG00000219410', 'score': 41.24}, {'connected_gene': 'CHD4', 'score': 35.76}, {'connected_gene': 'ENSG00000247853', 'score': 25.06}, {'connected_gene': 'EMG1', 'score': 20.64}, {'connected_gene': 'SPSB2', 'score': 13.02}, {'connected_gene': 'NCAPD2', 'score': 12.71}, {'connected_gene': 'C12orf57', 'score': 10.8}, {'connected_gene': 'PHB2', 'score': 10.42}, {'connected_gene': 'NOP2', 'score': 10.24}, {'connected_gene': 'P3H3', 'score': 10.07}, {'connected_gene': 'SCARNA12', 'score': 9.93}, {'connected_gene': 'C1S', 'score': 9.82}, {'connected_gene': 'GC12P006672', 'score': 0.37}]
chr12 GH12I006602 6602024 6609431 2.56 [{'connected_gene': 'CHD4', 'score': 588.83}, {'connected_gene': 'ZNF384', 'score': 65.49}, {'connected_gene': 'ENSG00000219410', 'score': 56.76}, {'connected_gene': 'ENSG00000247853', 'score': 53.11}, {'connected_gene': 'NOP2', 'score': 44.82}, {'connected_gene': 'NCAPD2', 'score': 33.14}, {'connected_gene': 'ING4', 'score': 26.37}, {'connected_gene': 'SPSB2', 'score': 22.88}, {'connected_gene': 'EMG1', 'score': 20.63}, {'connected_gene': 'SCARNA12', 'score': 19.69}, {'connected_gene': 'P3H3', 'score': 18.46}, {'connected_gene': 'ACRBP', 'score': 16.75}, {'connected_gene': 'LPAR5', 'score': 12.85}, {'connected_gene': 'SCARNA11', 'score': 12.24}, {'connected_gene': 'IFFO1', 'score': 12.17}, {'connected_gene': 'ATN1', 'score': 11.68}, {'connected_gene': 'C12orf57', 'score': 10.79}, {'connected_gene': 'LAG3', 'score': 10.77}, {'connected_gene': 'ENSG00000256967', 'score': 10.55}, {'connected_gene': 'PHB2', 'score': 10.41}, {'connected_gene': 'C1S', 'score': 9.81}, {'connected_gene': 'CD27-AS1', 'score': 4.6}, {'connected_gene': 'LRRC23', 'score': 2.58}, {'connected_gene': 'PTPN6', 'score': 2.0}, {'connected_gene': 'SCNN1A', 'score': 1.62}, {'connected_gene': 'PIR45256', 'score': 0.77}, {'connected_gene': 'GC12M006602', 'score': 0.77}]
chr12 GH12I006979 6979315 6982657 0.87 [{'connected_gene': 'EMG1', 'score': 9.89}, {'connected_gene': 'GC12P007502', 'score': 0.77}, {'connected_gene': 'C1S', 'score': 0.44}, {'connected_gene': 'LPCAT3', 'score': 0.28}]
chr12 GH12I007016 7016864 7019561 2.25 [{'connected_gene': 'LPCAT3', 'score': 550.77}, {'connected_gene': 'GC12M007017', 'score': 550.77}, {'connected_gene': 'PIR59434', 'score': 550.77}, {'connected_gene': 'ZNF384', 'score': 24.16}, {'connected_gene': 'NOP2', 'score': 16.14}, {'connected_gene': 'ENSG00000219410', 'score': 16.14}, {'connected_gene': 'ENSG00000247853', 'score': 15.1}, {'connected_gene': 'SCARNA12', 'score': 14.06}, {'connected_gene': 'ENSG00000256967', 'score': 13.28}, {'connected_gene': 'C1RL-AS1', 'score': 12.18}, {'connected_gene': 'LAG3', 'score': 12.14}, {'connected_gene': 'CHD4', 'score': 12.01}, {'connected_gene': 'NCAPD2', 'score': 11.97}, {'connected_gene': 'SPSB2', 'score': 11.89}, {'connected_gene': 'CLSTN3', 'score': 5.06}, {'connected_gene': 'C1S', 'score': 0.31}]
chr12 GH12I007059 7059534 7062000 1.58 [{'connected_gene': 'PIR53702', 'score': 550.77}, {'connected_gene': 'GC12P007522', 'score': 550.77}, {'connected_gene': 'GC12P007517', 'score': 550.77}, {'connected_gene': 'GC12P007532', 'score': 550.77}, {'connected_gene': 'PIR40185', 'score': 550.77}, {'connected_gene': 'PIR50287', 'score': 550.77}, {'connected_gene': 'GC12P007527', 'score': 550.77}, {'connected_gene': 'PIR45028', 'score': 550.77}, {'connected_gene': 'GC12P007530', 'score': 550.77}, {'connected_gene': 'PIR61112', 'score': 550.77}, {'connected_gene': 'C1S', 'score': 550.19}, {'connected_gene': 'C1R', 'score': 11.98}, {'connected_gene': 'C1RL', 'score': 11.93}, {'connected_gene': 'C1RL-AS1', 'score': 11.9}, {'connected_gene': 'LPCAT3', 'score': 11.45}, {'connected_gene': 'EMG1', 'score': 10.95}, {'connected_gene': 'PHB2', 'score': 10.95}, {'connected_gene': 'SCARNA12', 'score': 10.94}, {'connected_gene': 'RNU6-485P', 'score': 10.73}]
chr12 GH12I006995 6995429 6997277 0.75 [{'connected_gene': 'PIR35791', 'score': 0.77}, {'connected_gene': 'GC12M007000', 'score': 0.77}, {'connected_gene': 'C1S', 'score': 0.44}, {'connected_gene': 'LPCAT3', 'score': 0.34}]
chr12 GH12I006997 6997881 6999607 0.62 [{'connected_gene': 'PIR35791', 'score': 550.77}, {'connected_gene': 'GC12M007000', 'score': 550.77}, {'connected_gene': 'C1S', 'score': 0.39}, {'connected_gene': 'LPCAT3', 'score': 0.37}]
chr12 GH12I007068 7068126 7069778 0.66 [{'connected_gene': 'PIR62287', 'score': 550.77}, {'connected_gene': 'PIR34245', 'score': 550.77}, {'connected_gene': 'GC12P007529', 'score': 550.77}, {'connected_gene': 'PIR56993', 'score': 550.77}, {'connected_gene': 'PIR34897', 'score': 0.77}, {'connected_gene': 'GC12P007510', 'score': 0.77}, {'connected_gene': 'C1S', 'score': 0.18}]
chr12 GH12I006662 6662114 6664339 2.1 [{'connected_gene': 'ENSG00000219410', 'score': 602.28}, {'connected_gene': 'ING4', 'score': 565.88}, {'connected_gene': 'ZNF384', 'score': 56.45}, {'connected_gene': 'CHD4', 'score': 52.72}, {'connected_gene': 'ENSG00000247853', 'score': 35.33}, {'connected_gene': 'EMG1', 'score': 31.26}, {'connected_gene': 'NCAPD2', 'score': 26.91}, {'connected_gene': 'SPSB2', 'score': 23.91}, {'connected_gene': 'SCARNA12', 'score': 23.13}, {'connected_gene': 'NOP2', 'score': 22.27}, {'connected_gene': 'ENSG00000256967', 'score': 21.78}, {'connected_gene': 'C1RL-AS1', 'score': 20.85}, {'connected_gene': 'C12orf57', 'score': 19.16}, {'connected_gene': 'LAG3', 'score': 12.39}, {'connected_gene': 'ATN1', 'score': 11.12}, {'connected_gene': 'PHB2', 'score': 10.42}, {'connected_gene': 'ENSG00000272173', 'score': 10.41}, {'connected_gene': 'PEX5', 'score': 10.28}, {'connected_gene': 'P3H3', 'score': 10.05}, {'connected_gene': 'LRRC23', 'score': 10.01}, {'connected_gene': 'C1S', 'score': 9.82}, {'connected_gene': 'RPL13P5', 'score': 9.73}, {'connected_gene': 'ENSG00000202318', 'score': 4.6}]
chr12 GH12I006978 6978360 6979205 0.62 [{'connected_gene': 'GC12P007502', 'score': 550.77}, {'connected_gene': 'EMG1', 'score': 8.72}, {'connected_gene': 'C1S', 'score': 0.44}, {'connected_gene': 'LPCAT3', 'score': 0.28}]

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