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
ENST00000369102 [[150240599, 150241220], [150244686, 150244816], [150245201, 150245266], [150246489, 150246573], [150248149, 150248208], [150248929, 150249040], [150252053, 150252152], [150253245, 150253327]] [[150245220, 150245266], [150246489, 150246573], [150248149, 150248208], [150248929, 150249040], [150252053, 150252149]]
ENST00000369099 [[150245101, 150245266], [150246489, 150246573], [150248149, 150248208], [150248929, 150249040], [150252053, 150252152], [150253245, 150253327]] [[150245220, 150245266], [150246489, 150246573], [150248149, 150248208], [150248929, 150249040], [150252053, 150252149]]
ENST00000369098 [[150245182, 150245266], [150246489, 150246573], [150248149, 150248208], [150248929, 150249040], [150253245, 150253325]] [[150245220, 150245266], [150246489, 150246573], [150248149, 150248208], [150248929, 150249040], [150253245, 150253311]]
NM_001301040 [[150244686, 150244816], [150245201, 150245266], [150246489, 150246573], [150248149, 150248208], [150248929, 150249040], [150252053, 150252152], [150253245, 150253335]] [[150245220, 150245266], [150246489, 150246573], [150248149, 150248208], [150248929, 150249040], [150252053, 150252149]]
NM_001301039 [[150244686, 150244816], [150245201, 150245266], [150246489, 150246573], [150248149, 150248208], [150248929, 150249040], [150252050, 150252152], [150253245, 150253335]] [[150245220, 150245266], [150246489, 150246573], [150248149, 150248208], [150248929, 150249040], [150252050, 150252149]]
NM_024579 [[150245182, 150245266], [150246489, 150246573], [150248149, 150248208], [150248929, 150249040], [150252053, 150252152], [150253245, 150253335]] [[150245220, 150245266], [150246489, 150246573], [150248149, 150248208], [150248929, 150249040], [150252053, 150252149]]
NM_001301041 [[150245201, 150245266], [150248149, 150248208], [150248929, 150249040], [150252050, 150252152], [150253245, 150253335]] [[150245220, 150245266], [150248149, 150248208], [150248929, 150249040], [150252050, 150252149]]
NM_001301042 [[150245201, 150245266], [150246489, 150246573], [150248149, 150248208], [150248929, 150249040], [150253245, 150253335]] [[150245220, 150245266], [150246489, 150246573], [150248149, 150248208], [150248929, 150249040], [150253245, 150253311]]
Promoter
Chrom Start End Description
chr1 150245099 150245136 CAGE_peak_2_at_C1orf54_5end
chr1 150245177 150245214 CAGE_peak_1_at_C1orf54_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I150262 150262009 150263737 0.46 [{'connected_gene': 'HORMAD1', 'score': 4.02}, {'connected_gene': 'C1orf54', 'score': 0.44}, {'connected_gene': 'ENSG00000276110', 'score': 0.44}, {'connected_gene': 'CA14', 'score': 0.44}]
chr1 GH01I150787 150787601 150788800 0.8 [{'connected_gene': 'HORMAD1', 'score': 26.1}, {'connected_gene': 'C1orf54', 'score': 6.82}, {'connected_gene': 'GC01P150780', 'score': 0.44}, {'connected_gene': 'LOC100132571', 'score': 0.44}, {'connected_gene': 'UBE2D3P3', 'score': 0.39}]
chr1 GH01I150609 150609002 150616482 1.83 [{'connected_gene': 'HORMAD1', 'score': 49.09}, {'connected_gene': 'MCL1', 'score': 33.69}, {'connected_gene': 'PRPF3', 'score': 24.61}, {'connected_gene': 'ARNT', 'score': 23.3}, {'connected_gene': 'GOLPH3L', 'score': 22.43}, {'connected_gene': 'CTSS', 'score': 20.84}, {'connected_gene': 'GABPB2', 'score': 16.48}, {'connected_gene': 'PI4KB', 'score': 14.26}, {'connected_gene': 'PIP5K1A', 'score': 11.91}, {'connected_gene': 'UBE2D3P3', 'score': 11.72}, {'connected_gene': 'SETDB1', 'score': 11.71}, {'connected_gene': 'CDC42SE1', 'score': 11.64}, {'connected_gene': 'POGZ', 'score': 11.59}, {'connected_gene': 'RPRD2', 'score': 11.48}, {'connected_gene': 'CTSK', 'score': 10.48}, {'connected_gene': 'PLEKHO1', 'score': 7.03}, {'connected_gene': 'C1orf54', 'score': 5.78}, {'connected_gene': 'MINDY1', 'score': 3.36}, {'connected_gene': 'ANP32E', 'score': 2.27}, {'connected_gene': 'ENSG00000276103', 'score': 0.77}, {'connected_gene': 'ENSA', 'score': 0.37}]
chr1 GH01I150618 150618944 150626492 1.75 [{'connected_gene': 'HORMAD1', 'score': 25.54}, {'connected_gene': 'MCL1', 'score': 15.3}, {'connected_gene': 'GOLPH3L', 'score': 13.71}, {'connected_gene': 'ARNT', 'score': 13.06}, {'connected_gene': 'CTSS', 'score': 6.91}, {'connected_gene': 'C1orf54', 'score': 6.85}, {'connected_gene': 'PRPF3', 'score': 4.84}, {'connected_gene': 'PLEKHO1', 'score': 4.66}, {'connected_gene': 'CDC42SE1', 'score': 3.49}, {'connected_gene': 'MINDY1', 'score': 2.25}, {'connected_gene': 'ANP32E', 'score': 1.46}, {'connected_gene': 'ENSA', 'score': 0.44}, {'connected_gene': 'ENSG00000276103', 'score': 0.39}]
chr1 GH01I150266 150266847 150270182 2.06 [{'connected_gene': 'C1orf54', 'score': 550.77}, {'connected_gene': 'APH1A', 'score': 550.77}, {'connected_gene': 'MRPS21', 'score': 10.19}, {'connected_gene': 'SEMA6C', 'score': 6.92}]
chr1 GH01I150271 150271669 150274000 1.52 [{'connected_gene': 'C1orf54', 'score': 561.53}, {'connected_gene': 'SEMA6C', 'score': 6.86}, {'connected_gene': 'MRPS21', 'score': 5.1}, {'connected_gene': 'APH1A', 'score': 0.77}, {'connected_gene': 'CIART', 'score': 0.44}]
chr1 GH01I151004 151004823 151010066 2.31 [{'connected_gene': 'MINDY1', 'score': 550.77}, {'connected_gene': 'PRUNE1', 'score': 550.77}, {'connected_gene': 'PI4KB', 'score': 51.22}, {'connected_gene': 'SETDB1', 'score': 48.78}, {'connected_gene': 'PIP5K1A', 'score': 47.74}, {'connected_gene': 'PRPF3', 'score': 47.02}, {'connected_gene': 'GABPB2', 'score': 44.77}, {'connected_gene': 'GOLPH3L', 'score': 40.4}, {'connected_gene': 'CTSK', 'score': 38.79}, {'connected_gene': 'MRPL9', 'score': 37.02}, {'connected_gene': 'UBE2D3P3', 'score': 36.91}, {'connected_gene': 'ARNT', 'score': 32.93}, {'connected_gene': 'RPRD2', 'score': 27.87}, {'connected_gene': 'ZNF687', 'score': 26.14}, {'connected_gene': 'HORMAD1', 'score': 20.37}, {'connected_gene': 'LYSMD1', 'score': 20.22}, {'connected_gene': 'RN7SL444P', 'score': 19.13}, {'connected_gene': 'POGZ', 'score': 11.69}, {'connected_gene': 'CERS2', 'score': 11.02}, {'connected_gene': 'ENSG00000231073', 'score': 11.02}, {'connected_gene': 'BNIPL', 'score': 10.95}, {'connected_gene': 'C1orf56', 'score': 10.9}, {'connected_gene': 'ENSG00000229021', 'score': 10.4}, {'connected_gene': 'RPS10P6', 'score': 9.74}, {'connected_gene': 'TMOD4', 'score': 9.61}, {'connected_gene': 'C1orf54', 'score': 5.41}, {'connected_gene': 'CDC42SE1', 'score': 4.84}, {'connected_gene': 'ANXA9', 'score': 0.31}]
chr1 GH01I150472 150472823 150474434 0.86 [{'connected_gene': 'ADAMTSL4', 'score': 22.34}, {'connected_gene': 'ECM1', 'score': 12.32}, {'connected_gene': 'LOC100289061', 'score': 11.5}, {'connected_gene': 'ADAMTSL4-AS1', 'score': 11.47}, {'connected_gene': 'APH1A', 'score': 10.46}, {'connected_gene': 'C1orf54', 'score': 10.46}, {'connected_gene': 'HORMAD1', 'score': 9.62}, {'connected_gene': 'PRUNE1', 'score': 9.1}, {'connected_gene': 'RNU6-884P', 'score': 8.8}, {'connected_gene': 'TARS2', 'score': 0.39}, {'connected_gene': 'GC01P150425', 'score': 0.25}, {'connected_gene': 'RPRD2', 'score': 0.14}]
chr1 GH01I150301 150301637 150303672 0.31 [{'connected_gene': 'MRPS21', 'score': 17.76}, {'connected_gene': 'C1orf54', 'score': 11.7}, {'connected_gene': 'APH1A', 'score': 11.7}, {'connected_gene': 'CA14', 'score': 11.35}, {'connected_gene': 'ADAMTSL4', 'score': 10.89}, {'connected_gene': 'SEMA6C', 'score': 6.76}, {'connected_gene': 'LOC105371434', 'score': 0.44}, {'connected_gene': 'PRPF3', 'score': 0.37}]
chr1 GH01I150191 150191185 150193282 0.77 [{'connected_gene': 'PLEKHO1', 'score': 11.33}, {'connected_gene': 'VPS45', 'score': 10.97}, {'connected_gene': 'MTMR11', 'score': 10.79}, {'connected_gene': 'HIST2H2AC', 'score': 10.78}, {'connected_gene': 'HIST2H2BE', 'score': 10.78}, {'connected_gene': 'BOLA1', 'score': 10.78}, {'connected_gene': 'SF3B4', 'score': 10.59}, {'connected_gene': 'C1orf54', 'score': 10.42}, {'connected_gene': 'APH1A', 'score': 10.42}, {'connected_gene': 'CA14', 'score': 10.32}, {'connected_gene': 'CIART', 'score': 10.05}, {'connected_gene': 'TARS2', 'score': 8.66}, {'connected_gene': 'GC01P150213', 'score': 0.37}, {'connected_gene': 'LOC105371433', 'score': 0.29}]
chr1 GH01I149883 149883776 149889629 2.34 [{'connected_gene': 'HIST2H2AB', 'score': 593.89}, {'connected_gene': 'BOLA1', 'score': 550.77}, {'connected_gene': 'HIST2H2AC', 'score': 550.77}, {'connected_gene': 'HIST2H2BE', 'score': 550.77}, {'connected_gene': 'GC01M149896', 'score': 550.77}, {'connected_gene': 'PRPF3', 'score': 137.37}, {'connected_gene': 'SF3B4', 'score': 106.47}, {'connected_gene': 'UBE2D3P3', 'score': 78.45}, {'connected_gene': 'ARNT', 'score': 76.85}, {'connected_gene': 'GOLPH3L', 'score': 48.95}, {'connected_gene': 'HIST2H2BD', 'score': 45.6}, {'connected_gene': 'CTSK', 'score': 44.14}, {'connected_gene': 'HIST2H2BC', 'score': 35.25}, {'connected_gene': 'RPRD2', 'score': 30.8}, {'connected_gene': 'SV2A', 'score': 28.95}, {'connected_gene': 'APH1A', 'score': 18.71}, {'connected_gene': 'ADAMTSL4', 'score': 14.11}, {'connected_gene': 'VPS45', 'score': 13.48}, {'connected_gene': 'ENSG00000261716', 'score': 10.8}, {'connected_gene': 'MCL1', 'score': 9.68}, {'connected_gene': 'C1orf54', 'score': 4.46}, {'connected_gene': 'LOC102723955', 'score': 4.26}, {'connected_gene': 'MTMR11', 'score': 4.1}]
chr1 GH01I150254 150254987 150260761 2.66 [{'connected_gene': 'CA14', 'score': 554.1}, {'connected_gene': 'ENSG00000276110', 'score': 550.77}, {'connected_gene': 'MRPS21', 'score': 5.31}, {'connected_gene': 'ADAMTSL4', 'score': 4.65}, {'connected_gene': 'ECM1', 'score': 1.38}, {'connected_gene': 'C1orf54', 'score': 0.39}]
chr1 GH01I150362 150362216 150367397 2.31 [{'connected_gene': 'RPRD2', 'score': 560.46}, {'connected_gene': 'PRPF3', 'score': 49.8}, {'connected_gene': 'SETDB1', 'score': 46.98}, {'connected_gene': 'SF3B4', 'score': 40.95}, {'connected_gene': 'PI4KB', 'score': 40.62}, {'connected_gene': 'ZNF687', 'score': 34.13}, {'connected_gene': 'UBE2D3P3', 'score': 34.06}, {'connected_gene': 'PIP5K1A', 'score': 29.17}, {'connected_gene': 'ARNT', 'score': 24.0}, {'connected_gene': 'HIST2H2AB', 'score': 21.99}, {'connected_gene': 'MRPS21', 'score': 20.01}, {'connected_gene': 'RN7SL444P', 'score': 19.27}, {'connected_gene': 'GABPB2', 'score': 12.17}, {'connected_gene': 'GOLPH3L', 'score': 11.38}, {'connected_gene': 'C1orf54', 'score': 10.69}, {'connected_gene': 'APH1A', 'score': 10.65}, {'connected_gene': 'CTSK', 'score': 10.05}, {'connected_gene': 'ADAMTSL4', 'score': 9.97}, {'connected_gene': 'HIST2H2BC', 'score': 9.97}, {'connected_gene': 'ECM1', 'score': 9.17}, {'connected_gene': 'SEMA6C', 'score': 7.3}, {'connected_gene': 'TARS2', 'score': 6.97}, {'connected_gene': 'CTSS', 'score': 6.85}, {'connected_gene': 'GC01M150369', 'score': 0.44}]
chr1 GH01I150484 150484505 150485261 0.89 [{'connected_gene': 'ECM1', 'score': 12.19}, {'connected_gene': 'ADAMTSL4', 'score': 11.12}, {'connected_gene': 'LOC100289061', 'score': 11.1}, {'connected_gene': 'ADAMTSL4-AS1', 'score': 11.08}, {'connected_gene': 'PRPF3', 'score': 10.52}, {'connected_gene': 'C1orf54', 'score': 10.39}, {'connected_gene': 'APH1A', 'score': 10.39}, {'connected_gene': 'CA14', 'score': 9.89}, {'connected_gene': 'UBE2D3P3', 'score': 9.69}, {'connected_gene': 'CTSK', 'score': 9.69}, {'connected_gene': 'RNU6-884P', 'score': 9.62}, {'connected_gene': 'PRUNE1', 'score': 9.62}, {'connected_gene': 'MINDY1', 'score': 9.36}, {'connected_gene': 'RNU6-1309P', 'score': 9.1}, {'connected_gene': 'HORMAD1', 'score': 6.13}, {'connected_gene': 'TARS2', 'score': 0.77}, {'connected_gene': 'GC01P150425', 'score': 0.22}]
chr1 GH01I150476 150476585 150478786 0.93 [{'connected_gene': 'ECM1', 'score': 21.57}, {'connected_gene': 'MRPS21', 'score': 17.84}, {'connected_gene': 'ADAMTSL4', 'score': 11.52}, {'connected_gene': 'LOC100289061', 'score': 11.5}, {'connected_gene': 'ADAMTSL4-AS1', 'score': 11.48}, {'connected_gene': 'C1orf54', 'score': 10.46}, {'connected_gene': 'APH1A', 'score': 10.46}, {'connected_gene': 'HORMAD1', 'score': 9.62}, {'connected_gene': 'PRUNE1', 'score': 9.1}, {'connected_gene': 'RNU6-884P', 'score': 8.8}, {'connected_gene': 'SEMA6C', 'score': 7.3}, {'connected_gene': 'TARS2', 'score': 0.44}, {'connected_gene': 'GC01P150425', 'score': 0.23}]
chr1 GH01I150280 150280410 150283719 1.97 [{'connected_gene': 'CIART', 'score': 550.77}, {'connected_gene': 'PRPF3', 'score': 34.37}, {'connected_gene': 'SETDB1', 'score': 31.61}, {'connected_gene': 'ARNT', 'score': 28.99}, {'connected_gene': 'PIP5K1A', 'score': 24.55}, {'connected_gene': 'UBE2D3P3', 'score': 23.33}, {'connected_gene': 'GABPB2', 'score': 22.37}, {'connected_gene': 'SF3B4', 'score': 13.42}, {'connected_gene': 'GOLPH3L', 'score': 13.16}, {'connected_gene': 'ADAMTSL4', 'score': 12.18}, {'connected_gene': 'CTSK', 'score': 12.04}, {'connected_gene': 'ZNF687', 'score': 11.53}, {'connected_gene': 'RPRD2', 'score': 11.11}, {'connected_gene': 'HIST2H2AB', 'score': 10.79}, {'connected_gene': 'HIST2H2BD', 'score': 10.25}, {'connected_gene': 'PRUNE1', 'score': 10.09}, {'connected_gene': 'TARS2', 'score': 5.38}, {'connected_gene': 'ENSG00000261168', 'score': 4.38}, {'connected_gene': 'C1orf54', 'score': 0.39}, {'connected_gene': 'APH1A', 'score': 0.39}]
chr1 GH01I149961 149961637 149962591 0.79 [{'connected_gene': 'MTMR11', 'score': 12.07}, {'connected_gene': 'SF3B4', 'score': 11.13}, {'connected_gene': 'OTUD7B', 'score': 11.12}, {'connected_gene': 'SV2A', 'score': 11.1}, {'connected_gene': 'VPS45', 'score': 11.08}, {'connected_gene': 'BOLA1', 'score': 11.02}, {'connected_gene': 'HIST2H2AC', 'score': 11.01}, {'connected_gene': 'HIST2H2BE', 'score': 11.01}, {'connected_gene': 'HIST2H2AB', 'score': 10.94}, {'connected_gene': 'PLEKHO1', 'score': 10.9}, {'connected_gene': 'CA14', 'score': 9.16}, {'connected_gene': 'C1orf54', 'score': 3.83}, {'connected_gene': 'PIR49087', 'score': 0.34}]
chr1 GH01I150557 150557761 150580847 2.55 [{'connected_gene': 'RN7SL600P', 'score': 550.77}, {'connected_gene': 'MCL1', 'score': 550.39}, {'connected_gene': 'GOLPH3L', 'score': 56.07}, {'connected_gene': 'SETDB1', 'score': 54.87}, {'connected_gene': 'HORMAD1', 'score': 48.86}, {'connected_gene': 'PRPF3', 'score': 40.26}, {'connected_gene': 'PIP5K1A', 'score': 38.63}, {'connected_gene': 'PI4KB', 'score': 36.68}, {'connected_gene': 'SF3B4', 'score': 34.98}, {'connected_gene': 'ARNT', 'score': 33.02}, {'connected_gene': 'CTSK', 'score': 31.16}, {'connected_gene': 'ZNF687', 'score': 28.43}, {'connected_gene': 'GABPB2', 'score': 24.42}, {'connected_gene': 'UBE2D3P3', 'score': 24.14}, {'connected_gene': 'APH1A', 'score': 18.72}, {'connected_gene': 'C1orf56', 'score': 15.71}, {'connected_gene': 'RPRD2', 'score': 14.76}, {'connected_gene': 'VPS45', 'score': 13.42}, {'connected_gene': 'ENSA', 'score': 12.18}, {'connected_gene': 'CTSS', 'score': 11.31}, {'connected_gene': 'ADAMTSL4', 'score': 11.16}, {'connected_gene': 'HIST2H2AB', 'score': 10.76}, {'connected_gene': 'HIST2H2BD', 'score': 10.45}, {'connected_gene': 'RN7SL444P', 'score': 10.15}, {'connected_gene': 'PSMB4', 'score': 9.99}, {'connected_gene': 'SV2A', 'score': 9.8}, {'connected_gene': 'PRUNE1', 'score': 9.75}, {'connected_gene': 'C1orf54', 'score': 6.87}, {'connected_gene': 'ECM1', 'score': 6.49}, {'connected_gene': 'BNIPL', 'score': 6.19}, {'connected_gene': 'POGZ', 'score': 5.2}, {'connected_gene': 'LOC100289061', 'score': 5.13}, {'connected_gene': 'RFX5', 'score': 4.78}, {'connected_gene': 'TMOD4', 'score': 4.73}, {'connected_gene': 'GC01M150567', 'score': 0.77}, {'connected_gene': 'RN7SL473P', 'score': 0.77}, {'connected_gene': 'PIR41510', 'score': 0.44}, {'connected_gene': 'PIR48145', 'score': 0.44}, {'connected_gene': 'GC01M150578', 'score': 0.44}, {'connected_gene': 'GC01M150586', 'score': 0.44}, {'connected_gene': 'ADAMTSL4-AS1', 'score': 0.44}]
chr1 GH01I150213 150213082 150214600 1.42 [{'connected_gene': 'GC01P150215', 'score': 550.77}, {'connected_gene': 'GC01P150214', 'score': 550.77}, {'connected_gene': 'SETDB1', 'score': 19.24}, {'connected_gene': 'SF3B4', 'score': 17.92}, {'connected_gene': 'ANP32E', 'score': 16.41}, {'connected_gene': 'PIP5K1A', 'score': 15.81}, {'connected_gene': 'PRPF3', 'score': 15.57}, {'connected_gene': 'RNU2-17P', 'score': 13.78}, {'connected_gene': 'ARNT', 'score': 12.82}, {'connected_gene': 'HIST2H2AB', 'score': 12.77}, {'connected_gene': 'UBE2D3P3', 'score': 11.81}, {'connected_gene': 'CIART', 'score': 11.6}, {'connected_gene': 'CA14', 'score': 11.46}, {'connected_gene': 'C1orf54', 'score': 10.84}, {'connected_gene': 'APH1A', 'score': 10.83}, {'connected_gene': 'PLEKHO1', 'score': 10.8}, {'connected_gene': 'MTMR11', 'score': 10.46}, {'connected_gene': 'HIST2H2BC', 'score': 9.99}, {'connected_gene': 'TARS2', 'score': 8.01}, {'connected_gene': 'RPRD2', 'score': 6.4}, {'connected_gene': 'MRPS21', 'score': 5.42}, {'connected_gene': 'GOLPH3L', 'score': 4.36}, {'connected_gene': 'HIST2H2AC', 'score': 1.94}, {'connected_gene': 'VPS45', 'score': 1.24}, {'connected_gene': 'RN7SL480P', 'score': 0.77}]

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