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
ENST00000328703 [[154244986, 154245252], [154245811, 154246074], [154246249, 154246437], [154247425, 154247477], [154247629, 154247736], [154247868, 154247959], [154248091, 154248351]] [[154245199, 154245252], [154245811, 154246074], [154246249, 154246437], [154247425, 154247477], [154247629, 154247736], [154247868, 154247959], [154248091, 154248177]]
ENST00000457918 [[154245064, 154245252], [154245955, 154246074], [154246249, 154246437], [154247425, 154247477], [154247629, 154247736], [154247868, 154247959], [154248091, 154248260]] [[154245199, 154245252], [154245955, 154246074], [154246249, 154246437], [154247425, 154247477], [154247629, 154247736], [154247868, 154247959], [154248091, 154248177]]
ENST00000483970 [[154245084, 154245252], [154245811, 154246074], [154246225, 154246437], [154247425, 154247477], [154247629, 154247736], [154247868, 154247959], [154248091, 154248349]] [[154245199, 154245252], [154245811, 154246074], [154246225, 154246437], [154247425, 154247477], [154247629, 154247736], [154247868, 154247959], [154248091, 154248177]]
ENST00000447768 [[154245095, 154245252], [154245811, 154246010], [154246249, 154246437], [154247425, 154247477], [154247629, 154247736], [154247868, 154247959], [154248091, 154248139]] [[154245199, 154245252], [154245811, 154246010], [154246249, 154246437], [154247425, 154247477], [154247629, 154247713]]
ENST00000531435 [[154245104, 154245252], [154245811, 154246437], [154247425, 154247477], [154247629, 154247736], [154247868, 154247959], [154248091, 154248351]] None
ENST00000477780 [[154245112, 154245252], [154245811, 154246437], [154247425, 154247748]] None
ENST00000435087 [[154245143, 154245252], [154245811, 154246010], [154246249, 154246437], [154247425, 154247477], [154247553, 154247736], [154247868, 154247959]] [[154245199, 154245252], [154245811, 154246010], [154246249, 154246437], [154247425, 154247477], [154247553, 154247736], [154247868, 154247959]]
ENST00000532105 [[154245143, 154245252], [154246249, 154246437], [154247425, 154247477], [154247629, 154247736], [154247868, 154247959], [154248091, 154248315]] [[154246317, 154246437], [154247425, 154247477], [154247629, 154247736], [154247868, 154247959], [154248091, 154248177]]
ENST00000471326 [[154245343, 154246074], [154246249, 154246437], [154247425, 154247477], [154247629, 154247736], [154247868, 154247960]] None
ENST00000492550 [[154246344, 154246437], [154247425, 154247477], [154247629, 154247959], [154248091, 154248349]] None
ENST00000459914 [[154246373, 154246437], [154247425, 154247736], [154247868, 154247959], [154248091, 154248351]] None
NM_001018837 [[154245038, 154245252], [154245955, 154246074], [154246249, 154246437], [154247425, 154247477], [154247629, 154247736], [154247868, 154247959], [154248091, 154248351]] [[154245199, 154245252], [154245955, 154246074], [154246249, 154246437], [154247425, 154247477], [154247629, 154247736], [154247868, 154247959], [154248091, 154248177]]
NM_006118 [[154245038, 154245252], [154245811, 154246074], [154246249, 154246437], [154247425, 154247477], [154247629, 154247736], [154247868, 154247959], [154248091, 154248351]] [[154245199, 154245252], [154245811, 154246074], [154246249, 154246437], [154247425, 154247477], [154247629, 154247736], [154247868, 154247959], [154248091, 154248177]]
Promoter
Chrom Start End Description
chr1 154245073 154245147 CAGE_peak_1_at_HAX1_5end
chr1 154245882 154245917 CAGE_peak_2_at_HAX1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I154218 154218236 154223194 2.3 [{'connected_gene': 'UBAP2L', 'score': 573.82}, {'connected_gene': 'C1orf43', 'score': 557.82}, {'connected_gene': 'CREB3L4', 'score': 27.26}, {'connected_gene': 'CHTOP', 'score': 27.15}, {'connected_gene': 'INTS3', 'score': 21.79}, {'connected_gene': 'THBS3', 'score': 20.97}, {'connected_gene': 'SLC27A3', 'score': 20.3}, {'connected_gene': 'KRTCAP2', 'score': 18.52}, {'connected_gene': 'CRTC2', 'score': 16.97}, {'connected_gene': 'SHC1', 'score': 12.9}, {'connected_gene': 'RPS27', 'score': 11.75}, {'connected_gene': 'HAX1', 'score': 10.89}, {'connected_gene': 'LOC101928120', 'score': 10.72}, {'connected_gene': 'ENSG00000238279', 'score': 10.13}, {'connected_gene': 'DPM3', 'score': 9.82}, {'connected_gene': 'FLAD1', 'score': 9.76}, {'connected_gene': 'S100A3', 'score': 4.52}]
chr1 GH01I153880 153880180 153882926 1.14 [{'connected_gene': 'UBAP2L', 'score': 29.28}, {'connected_gene': 'CREB3L4', 'score': 26.79}, {'connected_gene': 'ENSG00000272654', 'score': 24.14}, {'connected_gene': 'INTS3', 'score': 23.63}, {'connected_gene': 'ATP8B2', 'score': 21.66}, {'connected_gene': 'GATAD2B', 'score': 11.25}, {'connected_gene': 'CRTC2', 'score': 11.24}, {'connected_gene': 'SLC39A1', 'score': 10.88}, {'connected_gene': 'JTB', 'score': 10.87}, {'connected_gene': 'CHTOP', 'score': 9.99}, {'connected_gene': 'ENSG00000233222', 'score': 9.73}, {'connected_gene': 'ENSG00000243613', 'score': 9.72}, {'connected_gene': 'HAX1', 'score': 9.36}, {'connected_gene': 'SNORA58B', 'score': 9.31}, {'connected_gene': 'RAB13', 'score': 5.72}, {'connected_gene': 'ENSG00000236327', 'score': 0.44}, {'connected_gene': 'LOC645965', 'score': 0.31}]
chr1 GH01I154153 154153601 154159970 1.9 [{'connected_gene': 'NUP210L', 'score': 574.85}, {'connected_gene': 'CREB3L4', 'score': 19.06}, {'connected_gene': 'CHTOP', 'score': 17.86}, {'connected_gene': 'CRTC2', 'score': 16.99}, {'connected_gene': 'SHC1', 'score': 12.9}, {'connected_gene': 'UBAP2L', 'score': 12.52}, {'connected_gene': 'INTS3', 'score': 12.28}, {'connected_gene': 'RPS27', 'score': 11.77}, {'connected_gene': 'SLC27A3', 'score': 11.52}, {'connected_gene': 'ENSG00000238279', 'score': 10.13}, {'connected_gene': 'FLAD1', 'score': 9.76}, {'connected_gene': 'HAX1', 'score': 8.79}, {'connected_gene': 'GC01M154167', 'score': 0.44}, {'connected_gene': 'RN7SL431P', 'score': 0.44}, {'connected_gene': 'TPM3', 'score': 0.28}]
chr1 GH01I154177 154177501 154184259 2.63 [{'connected_gene': 'TPM3', 'score': 551.91}, {'connected_gene': 'UBAP2L', 'score': 36.89}, {'connected_gene': 'CRTC2', 'score': 31.49}, {'connected_gene': 'CHTOP', 'score': 24.89}, {'connected_gene': 'LOC101928120', 'score': 22.12}, {'connected_gene': 'SLC27A3', 'score': 21.88}, {'connected_gene': 'FLAD1', 'score': 20.92}, {'connected_gene': 'ILF2', 'score': 20.75}, {'connected_gene': 'INTS3', 'score': 19.81}, {'connected_gene': 'CREB3L4', 'score': 16.04}, {'connected_gene': 'PYGO2', 'score': 15.2}, {'connected_gene': 'ENSG00000272654', 'score': 13.59}, {'connected_gene': 'SHC1', 'score': 13.02}, {'connected_gene': 'NUP210L', 'score': 12.27}, {'connected_gene': 'C1orf189', 'score': 11.56}, {'connected_gene': 'ENSG00000238279', 'score': 11.02}, {'connected_gene': 'SNORA58B', 'score': 10.41}, {'connected_gene': 'LOC343052', 'score': 10.23}, {'connected_gene': 'KRTCAP2', 'score': 10.13}, {'connected_gene': 'HAX1', 'score': 10.12}, {'connected_gene': 'DCST2', 'score': 10.08}, {'connected_gene': 'ATP8B2', 'score': 9.9}, {'connected_gene': 'RNU7-57P', 'score': 9.9}, {'connected_gene': 'IL6R', 'score': 7.71}, {'connected_gene': 'ADAR', 'score': 4.73}, {'connected_gene': 'DENND4B', 'score': 1.34}, {'connected_gene': 'GC01M154167', 'score': 0.39}, {'connected_gene': 'MIR190B', 'score': 0.39}, {'connected_gene': 'RN7SL431P', 'score': 0.39}]
chr1 GH01I154190 154190145 154194471 1.75 [{'connected_gene': 'TPM3', 'score': 550.77}, {'connected_gene': 'MIR190B', 'score': 550.77}, {'connected_gene': 'HAX1', 'score': 8.27}, {'connected_gene': 'C1orf189', 'score': 2.15}, {'connected_gene': 'TDRD10', 'score': 2.11}, {'connected_gene': 'NUP210L', 'score': 1.93}, {'connected_gene': 'CHRNB2', 'score': 1.6}, {'connected_gene': 'GC01M154167', 'score': 0.31}, {'connected_gene': 'RN7SL431P', 'score': 0.31}]
chr1 GH01I153782 153782657 153784423 1.42 [{'connected_gene': 'S100A1', 'score': 7.75}, {'connected_gene': 'HAX1', 'score': 6.93}, {'connected_gene': 'CREB3L4', 'score': 6.14}, {'connected_gene': 'S100A9', 'score': 5.2}, {'connected_gene': 'ATP8B2', 'score': 4.22}, {'connected_gene': 'ENSG00000207039', 'score': 0.77}, {'connected_gene': 'GC01M153786', 'score': 0.77}, {'connected_gene': 'SLC27A3', 'score': 0.44}]
chr1 GH01I153984 153984482 153987861 2 [{'connected_gene': 'RAB13', 'score': 550.77}, {'connected_gene': 'S100A4', 'score': 12.02}, {'connected_gene': 'ILF2', 'score': 10.78}, {'connected_gene': 'CHTOP', 'score': 10.77}, {'connected_gene': 'S100A16', 'score': 10.75}, {'connected_gene': 'CREB3L4', 'score': 10.25}, {'connected_gene': 'CKS1B', 'score': 10.08}, {'connected_gene': 'S100A3', 'score': 9.78}, {'connected_gene': 'HAX1', 'score': 4.36}, {'connected_gene': 'GC01P153977', 'score': 0.44}]
chr1 GH01I153961 153961304 153965286 2.58 [{'connected_gene': 'SLC39A1', 'score': 550.77}, {'connected_gene': 'MIR6737', 'score': 550.77}, {'connected_gene': 'ENSG00000282386', 'score': 550.77}, {'connected_gene': 'ILF2', 'score': 21.53}, {'connected_gene': 'CREB3L4', 'score': 15.32}, {'connected_gene': 'UBAP2L', 'score': 12.02}, {'connected_gene': 'RAB13', 'score': 11.96}, {'connected_gene': 'RPS27', 'score': 11.93}, {'connected_gene': 'RPL34P5', 'score': 11.91}, {'connected_gene': 'GATAD2B', 'score': 11.21}, {'connected_gene': 'HAX1', 'score': 8.42}, {'connected_gene': 'C1orf189', 'score': 8.26}, {'connected_gene': 'JTB', 'score': 1.66}, {'connected_gene': 'S100A16', 'score': 1.59}, {'connected_gene': 'SNAPIN', 'score': 1.5}]
chr1 GH01I153887 153887531 153888090 0.43 [{'connected_gene': 'CREB3L4', 'score': 26.79}, {'connected_gene': 'GATAD2B', 'score': 11.61}, {'connected_gene': 'SLC39A1', 'score': 11.02}, {'connected_gene': 'DENND4B', 'score': 10.95}, {'connected_gene': 'JTB', 'score': 10.79}, {'connected_gene': 'CRTC2', 'score': 10.5}, {'connected_gene': 'SLC27A3', 'score': 10.32}, {'connected_gene': 'ILF2', 'score': 9.65}, {'connected_gene': 'ENSG00000233222', 'score': 9.46}, {'connected_gene': 'ENSG00000243613', 'score': 9.46}, {'connected_gene': 'INTS3', 'score': 9.22}, {'connected_gene': 'UBAP2L', 'score': 9.08}, {'connected_gene': 'SNORA58B', 'score': 9.07}, {'connected_gene': 'C1orf189', 'score': 8.43}, {'connected_gene': 'HAX1', 'score': 8.19}, {'connected_gene': 'ENSG00000236327', 'score': 0.77}, {'connected_gene': 'LOC645965', 'score': 0.29}]
chr1 GH01I153803 153803402 153807440 1.23 [{'connected_gene': 'CREB3L4', 'score': 16.34}, {'connected_gene': 'GATAD2B', 'score': 11.15}, {'connected_gene': 'CRTC2', 'score': 11.06}, {'connected_gene': 'ENSG00000233222', 'score': 10.76}, {'connected_gene': 'ENSG00000243613', 'score': 10.76}, {'connected_gene': 'INTS3', 'score': 10.71}, {'connected_gene': 'NPR1', 'score': 9.83}, {'connected_gene': 'HAX1', 'score': 8.35}, {'connected_gene': 'S100A1', 'score': 7.17}, {'connected_gene': 'LOC105371448', 'score': 0.77}, {'connected_gene': 'PIR50903', 'score': 0.28}]
chr1 GH01I153942 153942393 153943546 0.46 [{'connected_gene': 'HAX1', 'score': 9.23}, {'connected_gene': 'DENND4B', 'score': 0.77}, {'connected_gene': 'GATAD2B', 'score': 0.37}]
chr1 GH01I153914 153914680 153915307 0.49 [{'connected_gene': 'HAX1', 'score': 8.87}, {'connected_gene': 'GATAD2B', 'score': 0.44}, {'connected_gene': 'LOC101928059', 'score': 0.44}, {'connected_gene': 'ENSG00000236327', 'score': 0.34}]
chr1 GH01I154270 154270778 154274041 2.08 [{'connected_gene': 'HAX1', 'score': 563.47}, {'connected_gene': 'CHTOP', 'score': 17.86}, {'connected_gene': 'CRTC2', 'score': 16.97}, {'connected_gene': 'CREB3L4', 'score': 14.06}, {'connected_gene': 'SHC1', 'score': 12.9}, {'connected_gene': 'UBAP2L', 'score': 12.54}, {'connected_gene': 'THBS3', 'score': 12.34}, {'connected_gene': 'INTS3', 'score': 12.27}, {'connected_gene': 'S100A4', 'score': 12.0}, {'connected_gene': 'RPS27', 'score': 11.73}, {'connected_gene': 'SLC27A3', 'score': 11.51}, {'connected_gene': 'KRTCAP2', 'score': 10.51}, {'connected_gene': 'ENSG00000238279', 'score': 10.13}, {'connected_gene': 'FLAD1', 'score': 9.76}, {'connected_gene': 'C1orf43', 'score': 5.74}, {'connected_gene': 'GC01P154263', 'score': 0.44}]
chr1 GH01I154129 154129269 154130000 0.49 [{'connected_gene': 'HAX1', 'score': 10.78}, {'connected_gene': 'MIR5698', 'score': 0.31}, {'connected_gene': 'NUP210L', 'score': 0.31}]
chr1 GH01I153919 153919070 153924514 2.09 [{'connected_gene': 'LOC101928059', 'score': 550.77}, {'connected_gene': 'GATAD2B', 'score': 550.77}, {'connected_gene': 'UBAP2L', 'score': 48.74}, {'connected_gene': 'CRTC2', 'score': 39.29}, {'connected_gene': 'ILF2', 'score': 33.51}, {'connected_gene': 'INTS3', 'score': 30.58}, {'connected_gene': 'CHTOP', 'score': 25.95}, {'connected_gene': 'CREB3L4', 'score': 24.94}, {'connected_gene': 'SLC27A3', 'score': 22.6}, {'connected_gene': 'ENSG00000272654', 'score': 13.73}, {'connected_gene': 'DENND4B', 'score': 12.17}, {'connected_gene': 'RPS27', 'score': 11.88}, {'connected_gene': 'ENSG00000238279', 'score': 10.15}, {'connected_gene': 'ENSG00000233222', 'score': 9.62}, {'connected_gene': 'ENSG00000243613', 'score': 9.61}, {'connected_gene': 'HAX1', 'score': 9.08}, {'connected_gene': 'ENSG00000236327', 'score': 0.29}]
chr1 GH01I153779 153779273 153781350 0.65 [{'connected_gene': 'ENSG00000233222', 'score': 11.22}, {'connected_gene': 'ENSG00000243613', 'score': 11.22}, {'connected_gene': 'INTS3', 'score': 11.14}, {'connected_gene': 'NPR1', 'score': 11.07}, {'connected_gene': 'ILF2', 'score': 10.76}, {'connected_gene': 'RAB13', 'score': 10.53}, {'connected_gene': 'RPL34P5', 'score': 10.53}, {'connected_gene': 'GATAD2B', 'score': 10.53}, {'connected_gene': 'RPS27', 'score': 10.53}, {'connected_gene': 'HAX1', 'score': 6.63}, {'connected_gene': 'S100A16', 'score': 6.13}, {'connected_gene': 'ENSG00000273026', 'score': 6.0}, {'connected_gene': 'ENSG00000272030', 'score': 5.08}, {'connected_gene': 'GC01M153786', 'score': 0.44}, {'connected_gene': 'ENSG00000207039', 'score': 0.44}, {'connected_gene': 'SLC27A3', 'score': 0.44}]
chr1 GH01I153888 153888093 153889186 0.74 [{'connected_gene': 'ENSG00000236327', 'score': 550.77}, {'connected_gene': 'GATAD2B', 'score': 11.63}, {'connected_gene': 'CREB3L4', 'score': 11.03}, {'connected_gene': 'SLC39A1', 'score': 11.03}, {'connected_gene': 'DENND4B', 'score': 10.97}, {'connected_gene': 'CRTC2', 'score': 10.88}, {'connected_gene': 'JTB', 'score': 10.8}, {'connected_gene': 'RAB13', 'score': 10.57}, {'connected_gene': 'RPS27', 'score': 10.56}, {'connected_gene': 'RPL34P5', 'score': 10.56}, {'connected_gene': 'SLC27A3', 'score': 10.32}, {'connected_gene': 'NPR1', 'score': 9.82}, {'connected_gene': 'ILF2', 'score': 9.65}, {'connected_gene': 'ENSG00000233222', 'score': 9.46}, {'connected_gene': 'ENSG00000243613', 'score': 9.46}, {'connected_gene': 'INTS3', 'score': 9.21}, {'connected_gene': 'UBAP2L', 'score': 9.08}, {'connected_gene': 'SNORA58B', 'score': 9.07}, {'connected_gene': 'C1orf189', 'score': 8.43}, {'connected_gene': 'HAX1', 'score': 8.25}, {'connected_gene': 'LOC645965', 'score': 0.28}]
chr1 GH01I153586 153586565 153587949 0.49 [{'connected_gene': 'PIR44602', 'score': 550.77}, {'connected_gene': 'CRTC2', 'score': 19.33}, {'connected_gene': 'SLC27A3', 'score': 14.99}, {'connected_gene': 'UBAP2L', 'score': 14.86}, {'connected_gene': 'CHTOP', 'score': 14.76}, {'connected_gene': 'CREB3L4', 'score': 13.38}, {'connected_gene': 'INTS3', 'score': 12.05}, {'connected_gene': 'ENSG00000238279', 'score': 10.86}, {'connected_gene': 'S100A13', 'score': 10.83}, {'connected_gene': 'ILF2', 'score': 10.45}, {'connected_gene': 'SPRR3', 'score': 4.59}, {'connected_gene': 'HAX1', 'score': 4.11}, {'connected_gene': 'GC01P153610', 'score': 0.37}]

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