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
ENST00000368567 [[153963234, 153963278], [153963590, 153963699], [153964041, 153964152], [153964540, 153964626]] [[153963272, 153963278], [153963590, 153963699], [153964041, 153964152], [153964540, 153964569]]
ENST00000392558 [[153963237, 153963278], [153963590, 153964174]] [[153963272, 153963278], [153963590, 153963785]]
ENST00000493224 [[153963238, 153963510], [153963590, 153963699], [153964041, 153964152], [153964540, 153964621]] None
ENST00000477151 [[153963238, 153963278], [153963389, 153963510], [153963590, 153963699], [153964041, 153964152], [153964540, 153964626]] None
NM_001030 [[153963238, 153963278], [153963590, 153963699], [153964041, 153964152], [153964540, 153964631]] [[153963272, 153963278], [153963590, 153963699], [153964041, 153964152], [153964540, 153964569]]
Promoter
Chrom Start End Description
chr1 153963227 153963249 CAGE_peak_1_at_RPS27_5end
chr1 153963265 153963267 CAGE_peak_2_at_RPS27_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I153816 153816017 153816953 0.31 [{'connected_gene': 'DENND4B', 'score': 14.94}, {'connected_gene': 'CREB3L4', 'score': 11.55}, {'connected_gene': 'SLC39A1', 'score': 11.55}, {'connected_gene': 'JTB', 'score': 11.54}, {'connected_gene': 'GATAD2B', 'score': 11.44}, {'connected_gene': 'RAB13', 'score': 10.94}, {'connected_gene': 'RPL34P5', 'score': 10.94}, {'connected_gene': 'RPS27', 'score': 10.94}, {'connected_gene': 'CRTC2', 'score': 10.83}, {'connected_gene': 'NPR1', 'score': 10.01}, {'connected_gene': 'ENSG00000233222', 'score': 9.9}, {'connected_gene': 'ENSG00000243613', 'score': 9.89}, {'connected_gene': 'LOC105371448', 'score': 0.37}, {'connected_gene': 'PIR50903', 'score': 0.31}]
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 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 GH01I154965 154965941 154978166 2.34 [{'connected_gene': 'SHC1', 'score': 583.74}, {'connected_gene': 'CKS1B', 'score': 550.77}, {'connected_gene': 'GON4L', 'score': 82.6}, {'connected_gene': 'UBAP2L', 'score': 81.13}, {'connected_gene': 'CLK2', 'score': 57.05}, {'connected_gene': 'KHDC4', 'score': 45.59}, {'connected_gene': 'THBS3', 'score': 42.82}, {'connected_gene': 'ENSG00000271267', 'score': 34.17}, {'connected_gene': 'KRTCAP2', 'score': 32.13}, {'connected_gene': 'FLAD1', 'score': 31.52}, {'connected_gene': 'YY1AP1', 'score': 31.41}, {'connected_gene': 'DCST1', 'score': 28.75}, {'connected_gene': 'RUSC1-AS1', 'score': 26.8}, {'connected_gene': 'MSTO1', 'score': 21.31}, {'connected_gene': 'MSTO2P', 'score': 20.79}, {'connected_gene': 'LOC101928120', 'score': 19.18}, {'connected_gene': 'RPS27', 'score': 19.05}, {'connected_gene': 'SLC50A1', 'score': 18.4}, {'connected_gene': 'DCST2', 'score': 12.67}, {'connected_gene': 'ASH1L', 'score': 10.89}, {'connected_gene': 'ENSG00000246203', 'score': 10.85}, {'connected_gene': 'ADAM15', 'score': 10.63}, {'connected_gene': 'DCST1-AS1', 'score': 10.61}, {'connected_gene': 'ASH1L-AS1', 'score': 10.44}, {'connected_gene': 'RIT1', 'score': 10.17}, {'connected_gene': 'EFNA4', 'score': 10.02}, {'connected_gene': 'DAP3', 'score': 5.42}, {'connected_gene': 'KCNN3', 'score': 5.06}, {'connected_gene': 'FDPS', 'score': 4.99}, {'connected_gene': 'ENSG00000231064', 'score': 4.57}, {'connected_gene': 'MIR4258', 'score': 0.77}, {'connected_gene': 'PYGO2', 'score': 0.44}]
chr1 GH01I153989 153989984 153993198 2.1 [{'connected_gene': 'RPS27', 'score': 580.05}, {'connected_gene': 'GC01P153990', 'score': 550.77}, {'connected_gene': 'GC01P153994', 'score': 550.77}, {'connected_gene': 'CREB3L4', 'score': 39.21}, {'connected_gene': 'CRTC2', 'score': 38.44}, {'connected_gene': 'UBAP2L', 'score': 33.22}, {'connected_gene': 'SLC27A3', 'score': 30.41}, {'connected_gene': 'CHTOP', 'score': 28.93}, {'connected_gene': 'SHC1', 'score': 24.49}, {'connected_gene': 'INTS3', 'score': 20.71}, {'connected_gene': 'ILF2', 'score': 10.37}, {'connected_gene': 'ENSG00000238279', 'score': 10.15}, {'connected_gene': 'SLC39A1', 'score': 10.03}, {'connected_gene': 'FLAD1', 'score': 9.76}, {'connected_gene': 'RPL34P5', 'score': 0.77}, {'connected_gene': 'NUP210L', 'score': 0.1}]
chr1 GH01I153821 153821445 153821554 0.64 [{'connected_gene': 'GATAD2B', 'score': 11.58}, {'connected_gene': 'DENND4B', 'score': 11.54}, {'connected_gene': 'CRTC2', 'score': 11.37}, {'connected_gene': 'RPS27', 'score': 11.28}, {'connected_gene': 'RAB13', 'score': 11.27}, {'connected_gene': 'RPL34P5', 'score': 11.27}, {'connected_gene': 'CREB3L4', 'score': 10.88}, {'connected_gene': 'SLC39A1', 'score': 10.88}, {'connected_gene': 'JTB', 'score': 10.88}, {'connected_gene': 'UBAP2L', 'score': 9.81}, {'connected_gene': 'SNORA58B', 'score': 9.81}, {'connected_gene': 'ENSG00000233222', 'score': 9.54}, {'connected_gene': 'ENSG00000243613', 'score': 9.53}, {'connected_gene': 'INTS3', 'score': 9.5}, {'connected_gene': 'TPM3', 'score': 9.21}, {'connected_gene': 'MIR190B', 'score': 9.21}, {'connected_gene': 'PIR50903', 'score': 0.34}, {'connected_gene': 'LOC105371448', 'score': 0.34}]
chr1 GH01I154384 154384918 154387432 1.67 [{'connected_gene': 'ATP8B2', 'score': 17.19}, {'connected_gene': 'IL6R-AS1', 'score': 12.49}, {'connected_gene': 'RNU7-57P', 'score': 11.16}, {'connected_gene': 'UBE2Q1-AS1', 'score': 10.5}, {'connected_gene': 'UBE2Q1', 'score': 10.5}, {'connected_gene': 'SHE', 'score': 10.34}, {'connected_gene': 'TDRD10', 'score': 10.34}, {'connected_gene': 'C1orf189', 'score': 10.08}, {'connected_gene': 'SNAPIN', 'score': 4.37}, {'connected_gene': 'UBAP2L', 'score': 4.01}, {'connected_gene': 'CRTC2', 'score': 3.23}, {'connected_gene': 'GATAD2B', 'score': 2.35}, {'connected_gene': 'RPS27', 'score': 2.32}, {'connected_gene': 'DENND4B', 'score': 1.92}, {'connected_gene': 'ENSG00000237920', 'score': 0.44}, {'connected_gene': 'IL6R', 'score': 0.37}]
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 GH01I153510 153510801 153511674 1.14 [{'connected_gene': 'CHTOP', 'score': 17.95}, {'connected_gene': 'CRTC2', 'score': 16.95}, {'connected_gene': 'CREB3L4', 'score': 14.05}, {'connected_gene': 'UBAP2L', 'score': 12.34}, {'connected_gene': 'INTS3', 'score': 12.32}, {'connected_gene': 'RPS27', 'score': 11.72}, {'connected_gene': 'SLC27A3', 'score': 11.54}, {'connected_gene': 'ENSG00000238279', 'score': 10.44}, {'connected_gene': 'RN7SL44P', 'score': 9.88}, {'connected_gene': 'S100A3', 'score': 5.49}, {'connected_gene': 'GC01M153500', 'score': 0.39}]
chr1 GH01I154199 154199002 154199600 0.98 [{'connected_gene': 'CHTOP', 'score': 17.85}, {'connected_gene': 'CRTC2', 'score': 16.98}, {'connected_gene': 'CREB3L4', 'score': 14.08}, {'connected_gene': 'SHC1', 'score': 12.9}, {'connected_gene': 'UBAP2L', 'score': 12.65}, {'connected_gene': 'INTS3', 'score': 12.28}, {'connected_gene': 'RPS27', 'score': 11.75}, {'connected_gene': 'SLC27A3', 'score': 11.52}, {'connected_gene': 'KRTCAP2', 'score': 10.51}, {'connected_gene': 'ENSG00000238279', 'score': 10.13}, {'connected_gene': 'FLAD1', 'score': 9.76}, {'connected_gene': 'S100A4', 'score': 5.09}, {'connected_gene': 'TPM3', 'score': 0.77}, {'connected_gene': 'C1orf189', 'score': 0.44}]
chr1 GH01I153965 153965602 153969060 2.1 [{'connected_gene': 'CREB3L4', 'score': 568.01}, {'connected_gene': 'SLC39A1', 'score': 550.77}, {'connected_gene': 'ENSG00000273026', 'score': 550.77}, {'connected_gene': 'UBAP2L', 'score': 33.28}, {'connected_gene': 'ILF2', 'score': 29.74}, {'connected_gene': 'CRTC2', 'score': 28.53}, {'connected_gene': 'SLC27A3', 'score': 21.36}, {'connected_gene': 'INTS3', 'score': 11.85}, {'connected_gene': 'CHTOP', 'score': 11.1}, {'connected_gene': 'ENSG00000238279', 'score': 11.04}, {'connected_gene': 'RPS27', 'score': 10.87}, {'connected_gene': 'LOC343052', 'score': 10.27}]
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 GH01I154960 154960405 154964874 2.26 [{'connected_gene': 'LOC101928120', 'score': 550.77}, {'connected_gene': 'PYGO2', 'score': 550.77}, {'connected_gene': 'SHC1', 'score': 23.06}, {'connected_gene': 'CLK2', 'score': 19.67}, {'connected_gene': 'KHDC4', 'score': 18.26}, {'connected_gene': 'GON4L', 'score': 17.9}, {'connected_gene': 'ENSG00000271267', 'score': 14.91}, {'connected_gene': 'UBAP2L', 'score': 13.01}, {'connected_gene': 'RUSC1-AS1', 'score': 12.89}, {'connected_gene': 'CREB3L4', 'score': 12.61}, {'connected_gene': 'THBS3', 'score': 11.86}, {'connected_gene': 'RPS27', 'score': 10.57}, {'connected_gene': 'SLC39A1', 'score': 9.71}]
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 GH01I154351 154351429 154354938 1.48 [{'connected_gene': 'PIR58101', 'score': 550.77}, {'connected_gene': 'CLK2', 'score': 31.09}, {'connected_gene': 'UBAP2L', 'score': 24.78}, {'connected_gene': 'CRTC2', 'score': 22.13}, {'connected_gene': 'CHTOP', 'score': 21.89}, {'connected_gene': 'INTS3', 'score': 20.66}, {'connected_gene': 'SLC27A3', 'score': 20.09}, {'connected_gene': 'RUSC1-AS1', 'score': 18.71}, {'connected_gene': 'KRTCAP2', 'score': 14.8}, {'connected_gene': 'THBS3', 'score': 13.5}, {'connected_gene': 'CREB3L4', 'score': 12.9}, {'connected_gene': 'ILF2', 'score': 12.23}, {'connected_gene': 'ENSG00000238279', 'score': 11.75}, {'connected_gene': 'SHC1', 'score': 11.45}, {'connected_gene': 'SLC39A1', 'score': 11.18}, {'connected_gene': 'ENSG00000272030', 'score': 10.94}, {'connected_gene': 'FLAD1', 'score': 10.85}, {'connected_gene': 'ATP8B2', 'score': 10.58}, {'connected_gene': 'RPS27', 'score': 10.23}, {'connected_gene': 'GBAP1', 'score': 10.11}, {'connected_gene': 'SLC50A1', 'score': 10.02}, {'connected_gene': 'EFNA4', 'score': 9.89}, {'connected_gene': 'ADAR', 'score': 9.7}, {'connected_gene': 'MRPS33P1', 'score': 0.31}]
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 GH01I154167 154167529 154168295 0.2 [{'connected_gene': 'GC01M154167', 'score': 550.77}, {'connected_gene': 'RN7SL431P', 'score': 550.77}, {'connected_gene': 'TPM3', 'score': 11.0}, {'connected_gene': 'MIR190B', 'score': 11.0}, {'connected_gene': 'C1orf189', 'score': 10.84}, {'connected_gene': 'UBAP2L', 'score': 10.83}, {'connected_gene': 'SNORA58B', 'score': 10.76}, {'connected_gene': 'RPS27', 'score': 10.72}, {'connected_gene': 'RPL34P5', 'score': 10.72}, {'connected_gene': 'RAB13', 'score': 10.71}, {'connected_gene': 'C1orf43', 'score': 10.47}]
chr1 GH01I154935 154935757 154939545 2.61 [{'connected_gene': 'ENSG00000270361', 'score': 550.77}, {'connected_gene': 'PMVK', 'score': 550.77}, {'connected_gene': 'GON4L', 'score': 49.33}, {'connected_gene': 'CLK2', 'score': 49.29}, {'connected_gene': 'KHDC4', 'score': 48.43}, {'connected_gene': 'ENSG00000271267', 'score': 38.28}, {'connected_gene': 'UBAP2L', 'score': 35.23}, {'connected_gene': 'THBS3', 'score': 31.03}, {'connected_gene': 'RUSC1-AS1', 'score': 30.29}, {'connected_gene': 'CRTC2', 'score': 29.35}, {'connected_gene': 'SHC1', 'score': 27.4}, {'connected_gene': 'CREB3L4', 'score': 21.71}, {'connected_gene': 'KRTCAP2', 'score': 18.19}, {'connected_gene': 'MSTO1', 'score': 13.38}, {'connected_gene': 'YY1AP1', 'score': 12.57}, {'connected_gene': 'MSTO2P', 'score': 11.75}, {'connected_gene': 'FLAD1', 'score': 11.56}, {'connected_gene': 'LOC101928120', 'score': 11.04}, {'connected_gene': 'RPS27', 'score': 10.57}, {'connected_gene': 'ASH1L', 'score': 9.89}, {'connected_gene': 'DPM3', 'score': 9.88}, {'connected_gene': 'SLC39A1', 'score': 9.71}, {'connected_gene': 'KCNN3', 'score': 9.44}, {'connected_gene': 'PBXIP1', 'score': 6.11}, {'connected_gene': 'MTX1', 'score': 1.51}, {'connected_gene': 'ADAR', 'score': 1.24}, {'connected_gene': 'GC01M154946', 'score': 0.44}]

© 2018 bmi.sjtu.edu.cn. All rights reserved.
浙ICP备18030141号.