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
ENST00000559488 [[45331211, 45331306], [45351784, 45351870], [45360719, 45360915], [45361808, 45362061], [45363625, 45363788], [45364435, 45364597], [45367046, 45367142], [45367550, 45367640], [45368319, 45368454], [45369504, 45369934], [45376673, 45376896], [45377843, 45377944], [45380086, 45380206], [45384836, 45385003], [45387504, 45389182]] [[45331227, 45331306], [45351784, 45351870], [45360719, 45360915], [45361808, 45362061], [45363625, 45363788], [45364435, 45364597], [45367046, 45367142], [45367550, 45367640], [45368319, 45368454], [45369504, 45369934], [45376673, 45376896], [45377843, 45377944], [45380086, 45380206], [45384836, 45385003], [45387504, 45387570]]
ENST00000571680 [[45331218, 45331306], [45351784, 45351870], [45360719, 45360915], [45361808, 45362061], [45363625, 45363788], [45364435, 45364597], [45367046, 45367142], [45367550, 45367640], [45368319, 45368853]] [[45331227, 45331306], [45351784, 45351870], [45360719, 45360915], [45361808, 45362061], [45363625, 45363788], [45364435, 45364597], [45367046, 45367142], [45367550, 45367640], [45368319, 45368526]]
ENST00000435993 [[45331262, 45331306], [45351784, 45351870], [45360719, 45360915], [45361808, 45362061], [45363625, 45363788], [45364435, 45364597], [45367046, 45367142], [45367550, 45367640], [45368319, 45368454], [45369504, 45369934], [45376673, 45376896], [45377843, 45377944], [45380086, 45380206], [45384836, 45385003], [45405634, 45405749], [45412561, 45412722], [45419286, 45419398], [45421527, 45421658]] [[45351846, 45351870], [45360719, 45360915], [45361808, 45362061], [45363625, 45363788], [45364435, 45364597], [45367046, 45367142], [45367550, 45367640], [45368319, 45368454], [45369504, 45369934], [45376673, 45376896], [45377843, 45377944], [45380086, 45380206], [45384836, 45385003], [45405634, 45405730]]
ENST00000573377 [[45368418, 45368793], [45369504, 45369537]] [[45368418, 45368526]]
NM_000212 [[45331207, 45331306], [45351784, 45351870], [45360719, 45360915], [45361808, 45362061], [45363625, 45363788], [45364435, 45364597], [45367046, 45367142], [45367550, 45367640], [45368319, 45368454], [45369504, 45369934], [45376673, 45376896], [45377843, 45377944], [45380086, 45380206], [45384836, 45385003], [45387504, 45390077]] [[45331227, 45331306], [45351784, 45351870], [45360719, 45360915], [45361808, 45362061], [45363625, 45363788], [45364435, 45364597], [45367046, 45367142], [45367550, 45367640], [45368319, 45368454], [45369504, 45369934], [45376673, 45376896], [45377843, 45377944], [45380086, 45380206], [45384836, 45385003], [45387504, 45387570]]
Promoter
Chrom Start End Description
chr17 45331014 45331054 CAGE_peak_3_at_ITGB3_5end
chr17 45331166 45331178 CAGE_peak_2_at_ITGB3_5end
chr17 45331184 45331200 CAGE_peak_1_at_ITGB3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I047203 47203427 47207732 1.53 [{'connected_gene': 'CDC27', 'score': 21.91}, {'connected_gene': 'SCRN2', 'score': 15.24}, {'connected_gene': 'ARL17A', 'score': 14.16}, {'connected_gene': 'KANSL1', 'score': 13.74}, {'connected_gene': 'ARL17B', 'score': 13.18}, {'connected_gene': 'RNU7-186P', 'score': 11.97}, {'connected_gene': 'SP2', 'score': 11.91}, {'connected_gene': 'EFCAB13', 'score': 11.86}, {'connected_gene': 'RPS2P47', 'score': 10.39}, {'connected_gene': 'MRPL45P2', 'score': 10.22}, {'connected_gene': 'RPRML', 'score': 5.98}, {'connected_gene': 'LOC101927060', 'score': 5.67}, {'connected_gene': 'GOSR2', 'score': 4.24}, {'connected_gene': 'MYL4', 'score': 0.44}, {'connected_gene': 'ITGB3', 'score': 0.25}]
chr17 GH17I047222 47222848 47226981 1.45 [{'connected_gene': 'CDC27', 'score': 20.56}, {'connected_gene': 'MYL4', 'score': 12.78}, {'connected_gene': 'RNU7-186P', 'score': 11.88}, {'connected_gene': 'EFCAB13', 'score': 11.74}, {'connected_gene': 'LOC101927060', 'score': 7.62}, {'connected_gene': 'ITGB3', 'score': 0.31}]
chr17 GH17I047310 47310310 47311455 0.52 [{'connected_gene': 'TBKBP1', 'score': 21.0}, {'connected_gene': 'EFCAB13', 'score': 11.65}, {'connected_gene': 'RNU7-186P', 'score': 11.64}, {'connected_gene': 'THCAT158', 'score': 0.39}, {'connected_gene': 'ENSG00000276790', 'score': 0.29}, {'connected_gene': 'ITGB3', 'score': 0.22}, {'connected_gene': 'ENSG00000259753', 'score': 0.22}]
chr17 GH17I047264 47264058 47264836 0.2 [{'connected_gene': 'TBKBP1', 'score': 8.06}, {'connected_gene': 'RNU7-186P', 'score': 0.44}, {'connected_gene': 'ITGB3', 'score': 0.39}, {'connected_gene': 'ENSG00000259753', 'score': 0.39}, {'connected_gene': 'ENSG00000276790', 'score': 0.37}]
chr17 GH17I047270 47270348 47270926 0.38 [{'connected_gene': 'TBKBP1', 'score': 10.72}, {'connected_gene': 'ENSG00000276790', 'score': 0.44}, {'connected_gene': 'RNU7-186P', 'score': 0.39}, {'connected_gene': 'ITGB3', 'score': 0.37}, {'connected_gene': 'ENSG00000259753', 'score': 0.37}]
chr17 GH17I047700 47700323 47709648 1.72 [{'connected_gene': 'MRPL45P2', 'score': 50.52}, {'connected_gene': 'TBKBP1', 'score': 48.87}, {'connected_gene': 'SP2', 'score': 38.28}, {'connected_gene': 'EFCAB13', 'score': 36.54}, {'connected_gene': 'ENSG00000253347', 'score': 33.09}, {'connected_gene': 'ENSG00000266601', 'score': 24.56}, {'connected_gene': 'RPS7P11', 'score': 23.19}, {'connected_gene': 'ENSG00000264701', 'score': 22.64}, {'connected_gene': 'KPNB1', 'score': 20.87}, {'connected_gene': 'LRRC37A17P', 'score': 14.61}, {'connected_gene': 'CDK5RAP3', 'score': 14.16}, {'connected_gene': 'OSBPL7', 'score': 14.02}, {'connected_gene': 'RPS2P47', 'score': 13.17}, {'connected_gene': 'LRRC46', 'score': 12.9}, {'connected_gene': 'CBX1', 'score': 12.18}, {'connected_gene': 'ENSG00000263766', 'score': 11.94}, {'connected_gene': 'SCRN2', 'score': 11.43}, {'connected_gene': 'GOSR2', 'score': 10.87}, {'connected_gene': 'TBX21', 'score': 10.45}, {'connected_gene': 'LOC101927060', 'score': 10.43}, {'connected_gene': 'HOXB3', 'score': 10.35}, {'connected_gene': 'ENSG00000263412', 'score': 9.73}, {'connected_gene': 'HOXB2', 'score': 4.29}, {'connected_gene': 'ITGB3', 'score': 2.56}, {'connected_gene': 'SNX11', 'score': 1.97}, {'connected_gene': 'NPEPPS', 'score': 1.14}]
chr17 GH17I047265 47265270 47268963 1.61 [{'connected_gene': 'LRRC37A17P', 'score': 14.44}, {'connected_gene': 'TBKBP1', 'score': 11.29}, {'connected_gene': 'ENSG00000253347', 'score': 10.67}, {'connected_gene': 'ENSG00000266601', 'score': 10.38}, {'connected_gene': 'ARL17B', 'score': 10.37}, {'connected_gene': 'SCRN2', 'score': 4.39}, {'connected_gene': 'RNU7-186P', 'score': 0.44}, {'connected_gene': 'ENSG00000276790', 'score': 0.39}, {'connected_gene': 'ENSG00000259753', 'score': 0.39}, {'connected_gene': 'ITGB3', 'score': 0.39}]
chr17 GH17I047208 47208235 47211198 1.75 [{'connected_gene': 'MYL4', 'score': 561.04}, {'connected_gene': 'CDC27', 'score': 16.12}, {'connected_gene': 'KANSL1', 'score': 12.54}, {'connected_gene': 'SP2', 'score': 10.92}, {'connected_gene': 'MRPL45P2', 'score': 10.04}, {'connected_gene': 'ITGB3', 'score': 0.26}]
chr17 GH17I047217 47217435 47217584 0.31 [{'connected_gene': 'MYL4', 'score': 0.37}, {'connected_gene': 'ITGB3', 'score': 0.28}]
chr17 GH17I047209 47208082 47208095 0.4 [{'connected_gene': 'MYL4', 'score': 0.44}, {'connected_gene': 'ITGB3', 'score': 0.25}]
chr17 GH17I047214 47214031 47214507 0.49 [{'connected_gene': 'MYL4', 'score': 0.39}, {'connected_gene': 'ITGB3', 'score': 0.28}]
chr17 GH17I047287 47287695 47287844 0.74 [{'connected_gene': 'MYL4', 'score': 12.39}, {'connected_gene': 'RNU7-186P', 'score': 12.34}, {'connected_gene': 'EFCAB13', 'score': 9.38}, {'connected_gene': 'ENSG00000276790', 'score': 0.44}, {'connected_gene': 'ITGB3', 'score': 0.29}, {'connected_gene': 'ENSG00000259753', 'score': 0.29}]
chr17 GH17I047218 47218754 47221397 1.14 [{'connected_gene': 'MYL4', 'score': 23.47}, {'connected_gene': 'LOC101927060', 'score': 5.08}, {'connected_gene': 'ITGB3', 'score': 0.29}]
chr17 GH17I047199 47199635 47201773 1.2 [{'connected_gene': 'MYL4', 'score': 550.77}, {'connected_gene': 'LOC101927060', 'score': 16.64}, {'connected_gene': 'RNU7-186P', 'score': 11.36}, {'connected_gene': 'EFCAB13', 'score': 11.27}, {'connected_gene': 'ITGB3', 'score': 0.23}]
chr17 GH17I047244 47244915 47245044 0.2 [{'connected_gene': 'ITGB3', 'score': 0.44}, {'connected_gene': 'MYL4', 'score': 0.26}]
chr17 GH17I047251 47251634 47254956 1.99 [{'connected_gene': 'ITGB3', 'score': 560.62}, {'connected_gene': 'ENSG00000259753', 'score': 550.77}, {'connected_gene': 'EFCAB13', 'score': 10.9}, {'connected_gene': 'TBKBP1', 'score': 7.62}, {'connected_gene': 'MYL4', 'score': 0.23}]
chr17 GH17I047255 47255401 47258613 1.47 [{'connected_gene': 'ITGB3', 'score': 11.2}, {'connected_gene': 'EFCAB13', 'score': 9.39}, {'connected_gene': 'TBKBP1', 'score': 7.24}, {'connected_gene': 'THCAT158', 'score': 5.49}, {'connected_gene': 'ENSG00000259753', 'score': 0.77}, {'connected_gene': 'RNU7-186P', 'score': 0.77}]
chr17 GH17I047274 47274309 47281732 1.72 [{'connected_gene': 'EFCAB13', 'score': 25.11}, {'connected_gene': 'GOSR2', 'score': 19.72}, {'connected_gene': 'LRRC37A2', 'score': 19.27}, {'connected_gene': 'LRRC46', 'score': 12.81}, {'connected_gene': 'TBKBP1', 'score': 12.55}, {'connected_gene': 'CBX1', 'score': 12.16}, {'connected_gene': 'ENSG00000264701', 'score': 11.79}, {'connected_gene': 'ENSG00000263766', 'score': 11.77}, {'connected_gene': 'MYL4', 'score': 11.73}, {'connected_gene': 'CDK5RAP3', 'score': 9.82}, {'connected_gene': 'ITGB3', 'score': 7.72}, {'connected_gene': 'THCAT158', 'score': 6.25}, {'connected_gene': 'WNT9B', 'score': 2.33}, {'connected_gene': 'ENSG00000276790', 'score': 0.77}, {'connected_gene': 'RNU7-186P', 'score': 0.37}, {'connected_gene': 'ENSG00000259753', 'score': 0.34}]
chr17 GH17I047239 47239141 47241503 1.6 [{'connected_gene': 'EFCAB13', 'score': 19.09}, {'connected_gene': 'MRPL45P2', 'score': 14.55}, {'connected_gene': 'MYL4', 'score': 12.61}, {'connected_gene': 'ENSG00000253347', 'score': 12.17}, {'connected_gene': 'RPS7P11', 'score': 9.86}, {'connected_gene': 'ITGB3', 'score': 8.98}, {'connected_gene': 'TBKBP1', 'score': 7.34}]
chr17 GH17I047285 47285844 47287106 1.02 [{'connected_gene': 'EFCAB13', 'score': 22.4}, {'connected_gene': 'MYL4', 'score': 17.14}, {'connected_gene': 'RNU7-186P', 'score': 12.34}, {'connected_gene': 'SCRN2', 'score': 7.6}, {'connected_gene': 'ENSG00000276790', 'score': 0.44}, {'connected_gene': 'ITGB3', 'score': 0.29}, {'connected_gene': 'ENSG00000259753', 'score': 0.29}]
chr17 GH17I047290 47290794 47292301 1.52 [{'connected_gene': 'EFCAB13', 'score': 22.82}, {'connected_gene': 'RNU7-186P', 'score': 12.25}, {'connected_gene': 'TBKBP1', 'score': 8.36}, {'connected_gene': 'ENSG00000276790', 'score': 0.39}, {'connected_gene': 'ITGB3', 'score': 0.28}, {'connected_gene': 'ENSG00000259753', 'score': 0.28}]
chr17 GH17I047293 47293810 47295231 0.83 [{'connected_gene': 'EFCAB13', 'score': 19.41}, {'connected_gene': 'RNU7-186P', 'score': 12.24}, {'connected_gene': 'TBKBP1', 'score': 8.34}, {'connected_gene': 'THCAT158', 'score': 5.54}, {'connected_gene': 'ENSG00000276790', 'score': 0.39}, {'connected_gene': 'ITGB3', 'score': 0.26}, {'connected_gene': 'ENSG00000259753', 'score': 0.26}]
chr17 GH17I047298 47298124 47299999 0.56 [{'connected_gene': 'EFCAB13', 'score': 17.7}, {'connected_gene': 'RNU7-186P', 'score': 11.72}, {'connected_gene': 'MRPL45P2', 'score': 3.91}, {'connected_gene': 'ENSG00000276790', 'score': 0.37}, {'connected_gene': 'ITGB3', 'score': 0.25}, {'connected_gene': 'ENSG00000259753', 'score': 0.25}]
chr17 GH17I047288 47288621 47290035 1.15 [{'connected_gene': 'EFCAB13', 'score': 17.28}, {'connected_gene': 'RNU7-186P', 'score': 12.27}, {'connected_gene': 'MYL4', 'score': 11.99}, {'connected_gene': 'TBKBP1', 'score': 7.82}, {'connected_gene': 'CBX1', 'score': 5.54}, {'connected_gene': 'ENSG00000276790', 'score': 0.44}, {'connected_gene': 'ENSG00000259753', 'score': 0.28}, {'connected_gene': 'ITGB3', 'score': 0.28}]
chr17 GH17I047229 47229375 47231184 1.44 [{'connected_gene': 'EFCAB13', 'score': 17.07}, {'connected_gene': 'RNU7-186P', 'score': 11.9}, {'connected_gene': 'MYL4', 'score': 5.67}, {'connected_gene': 'LOC102724532', 'score': 4.94}, {'connected_gene': 'ITGB3', 'score': 0.34}]
chr17 GH17I047283 47283055 47285107 0.43 [{'connected_gene': 'EFCAB13', 'score': 22.79}, {'connected_gene': 'RNU7-186P', 'score': 12.0}, {'connected_gene': 'ITGB3', 'score': 7.47}, {'connected_gene': 'ENSG00000276790', 'score': 0.77}, {'connected_gene': 'ENSG00000259753', 'score': 0.29}]
chr17 GH17I047297 47295245 47295449 0.8 [{'connected_gene': 'EFCAB13', 'score': 16.94}, {'connected_gene': 'RNU7-186P', 'score': 11.72}, {'connected_gene': 'ENSG00000276790', 'score': 0.37}, {'connected_gene': 'ITGB3', 'score': 0.26}, {'connected_gene': 'ENSG00000259753', 'score': 0.26}]
chr17 GH17I047296 47295915 47295920 0.4 [{'connected_gene': 'EFCAB13', 'score': 11.75}, {'connected_gene': 'RNU7-186P', 'score': 11.72}, {'connected_gene': 'ENSG00000276790', 'score': 0.37}, {'connected_gene': 'ITGB3', 'score': 0.26}, {'connected_gene': 'ENSG00000259753', 'score': 0.26}]
chr17 GH17I047295 47295575 47295764 0.77 [{'connected_gene': 'EFCAB13', 'score': 11.75}, {'connected_gene': 'RNU7-186P', 'score': 11.72}, {'connected_gene': 'ENSG00000276790', 'score': 0.37}, {'connected_gene': 'ITGB3', 'score': 0.26}, {'connected_gene': 'ENSG00000259753', 'score': 0.26}]
chr17 GH17I047304 47304734 47306662 1.16 [{'connected_gene': 'EFCAB13', 'score': 12.14}, {'connected_gene': 'RNU7-186P', 'score': 11.7}, {'connected_gene': 'THCAT158', 'score': 5.06}, {'connected_gene': 'MRPL45P2', 'score': 3.95}, {'connected_gene': 'ENSG00000276790', 'score': 0.31}, {'connected_gene': 'ITGB3', 'score': 0.23}, {'connected_gene': 'ENSG00000259753', 'score': 0.23}]
chr17 GH17I047305 47304380 47304464 0.4 [{'connected_gene': 'EFCAB13', 'score': 12.08}, {'connected_gene': 'RNU7-186P', 'score': 11.7}, {'connected_gene': 'THCAT158', 'score': 5.06}, {'connected_gene': 'ENSG00000276790', 'score': 0.34}, {'connected_gene': 'ITGB3', 'score': 0.23}, {'connected_gene': 'ENSG00000259753', 'score': 0.23}]
chr17 GH17I047307 47307044 47307236 0.46 [{'connected_gene': 'EFCAB13', 'score': 12.18}, {'connected_gene': 'RNU7-186P', 'score': 11.7}, {'connected_gene': 'THCAT158', 'score': 0.37}, {'connected_gene': 'ENSG00000276790', 'score': 0.31}, {'connected_gene': 'ITGB3', 'score': 0.23}, {'connected_gene': 'ENSG00000259753', 'score': 0.23}]
chr17 GH17I047262 47262715 47262824 0.46 [{'connected_gene': 'RNU7-186P', 'score': 0.77}, {'connected_gene': 'ITGB3', 'score': 0.44}, {'connected_gene': 'ENSG00000259753', 'score': 0.44}, {'connected_gene': 'ENSG00000276790', 'score': 0.37}]
chr17 GH17I047227 47227066 47227596 0.2 [{'connected_gene': 'RNU7-186P', 'score': 11.88}, {'connected_gene': 'EFCAB13', 'score': 11.74}, {'connected_gene': 'ITGB3', 'score': 0.31}, {'connected_gene': 'MYL4', 'score': 0.31}]

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