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
ENST00000299192 [[50099851, 50100180], [50100277, 50100450], [50102690, 50102778], [50104088, 50104201], [50106515, 50106625], [50109481, 50109622], [50112651, 50112929], [50117847, 50117938], [50118044, 50118202], [50118479, 50118562], [50120125, 50120262], [50128615, 50128704], [50134140, 50134284], [50136169, 50136346], [50138849, 50140298]] [[50100042, 50100180], [50100277, 50100450], [50102690, 50102778], [50104088, 50104201], [50106515, 50106625], [50109481, 50109622], [50112651, 50112929], [50117847, 50117938], [50118044, 50118202], [50118479, 50118562], [50120125, 50120262], [50128615, 50128704], [50134140, 50134284], [50136169, 50136346], [50138849, 50138972]]
ENST00000285767 [[50099880, 50100180], [50102690, 50102778], [50104088, 50104201], [50106515, 50106625], [50109481, 50109622], [50112651, 50112929], [50117847, 50117938], [50118044, 50118202], [50118479, 50118562], [50120125, 50120262], [50128615, 50128704], [50134140, 50134284], [50136169, 50136346], [50138849, 50139373]] [[50100127, 50100180], [50102690, 50102778], [50104088, 50104201], [50106515, 50106625], [50109481, 50109622], [50112651, 50112929], [50117847, 50117938], [50118044, 50118202], [50118479, 50118562], [50120125, 50120262], [50128615, 50128704], [50134140, 50134284], [50136169, 50136346], [50138849, 50138972]]
ENST00000561819 [[50099906, 50100180], [50102690, 50102778], [50103155, 50103200], [50104088, 50104149]] None
ENST00000569324 [[50099916, 50100180], [50100277, 50100759]] None
ENST00000561525 [[50112854, 50112929], [50117847, 50117938], [50118018, 50118202], [50118479, 50118531]] None
ENST00000564942 [[50113942, 50114173], [50117847, 50117938], [50118044, 50118202], [50118479, 50118562], [50120125, 50120262], [50128615, 50128716]] None
NM_001329731 [[50099851, 50100180], [50100277, 50100450], [50102690, 50102778], [50104088, 50104201], [50109481, 50109622], [50112651, 50112929], [50117847, 50117938], [50118044, 50118202], [50118479, 50118562], [50120125, 50120262], [50128615, 50128704], [50134140, 50134284], [50136169, 50136346], [50138849, 50141183]] [[50109552, 50109622], [50112651, 50112929], [50117847, 50117938], [50118044, 50118202], [50118479, 50118562], [50120125, 50120262], [50128615, 50128704], [50134140, 50134284], [50136169, 50136346], [50138849, 50138972]]
NR_138093 [[50099851, 50100180], [50100277, 50100450], [50102690, 50102778], [50104088, 50104201], [50109481, 50109622], [50112651, 50112929], [50117847, 50117938], [50118018, 50118202], [50118479, 50118562], [50120125, 50120262], [50128615, 50128704], [50134140, 50134284], [50136169, 50136346], [50138849, 50141183]] None
NM_182922 [[50099851, 50100180], [50100277, 50100450], [50102690, 50102778], [50104088, 50104201], [50106515, 50106625], [50109481, 50109622], [50112651, 50112929], [50117847, 50117938], [50118044, 50118202], [50118479, 50118562], [50120125, 50120262], [50128615, 50128704], [50134140, 50134284], [50136169, 50136346], [50138849, 50141183]] [[50100042, 50100180], [50100277, 50100450], [50102690, 50102778], [50104088, 50104201], [50106515, 50106625], [50109481, 50109622], [50112651, 50112929], [50117847, 50117938], [50118044, 50118202], [50118479, 50118562], [50120125, 50120262], [50128615, 50128704], [50134140, 50134284], [50136169, 50136346], [50138849, 50138972]]
NR_138092 [[50099851, 50100180], [50100277, 50100450], [50102690, 50102778], [50104088, 50104201], [50106515, 50106625], [50109481, 50109622], [50111812, 50112066], [50112651, 50112929], [50117847, 50117938], [50118018, 50118202], [50118479, 50118562], [50120125, 50120262], [50128615, 50128704], [50134140, 50134284], [50136169, 50136346], [50138849, 50141183]] None
NM_001329730 [[50099851, 50100180], [50100277, 50100450], [50100578, 50100893], [50102690, 50102778], [50104088, 50104201], [50106515, 50106625], [50109481, 50109622], [50112651, 50112929], [50117847, 50117938], [50118044, 50118202], [50118479, 50118562], [50120125, 50120262], [50128615, 50128704], [50134140, 50134284], [50136169, 50136346], [50138849, 50141183]] [[50102730, 50102778], [50104088, 50104201], [50106515, 50106625], [50109481, 50109622], [50112651, 50112929], [50117847, 50117938], [50118044, 50118202], [50118479, 50118562], [50120125, 50120262], [50128615, 50128704], [50134140, 50134284], [50136169, 50136346], [50138849, 50138972]]
NM_001329729 [[50099851, 50100180], [50100277, 50100450], [50100552, 50100893], [50102690, 50102778], [50104088, 50104201], [50106515, 50106625], [50109481, 50109622], [50112651, 50112929], [50117847, 50117938], [50118044, 50118202], [50118479, 50118562], [50120125, 50120262], [50128615, 50128704], [50134140, 50134284], [50136169, 50136346], [50138849, 50141183]] [[50102730, 50102778], [50104088, 50104201], [50106515, 50106625], [50109481, 50109622], [50112651, 50112929], [50117847, 50117938], [50118044, 50118202], [50118479, 50118562], [50120125, 50120262], [50128615, 50128704], [50134140, 50134284], [50136169, 50136346], [50138849, 50138972]]
Promoter
Chrom Start End Description
chr16 50099870 50099956 CAGE_peak_1_at_HEATR3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I050258 50258950 50260456 1.01 [{'connected_gene': 'NKD1', 'score': 4.88}, {'connected_gene': 'HEATR3', 'score': 4.84}, {'connected_gene': 'GC16P050277', 'score': 0.44}, {'connected_gene': 'ADCY7', 'score': 0.39}]
chr16 GH16I050151 50151808 50156359 2.08 [{'connected_gene': 'PAPD5', 'score': 550.77}, {'connected_gene': 'LOC101927250', 'score': 550.77}, {'connected_gene': 'HEATR3', 'score': 22.86}, {'connected_gene': 'SNX20', 'score': 11.66}, {'connected_gene': 'CNEP1R1', 'score': 10.71}, {'connected_gene': 'BRD7', 'score': 9.48}, {'connected_gene': 'GC16M050159', 'score': 0.29}]
chr16 GH16I050102 50102190 50104539 0.54 [{'connected_gene': 'HEATR3', 'score': 59.74}, {'connected_gene': 'ENSG00000252526', 'score': 11.39}, {'connected_gene': 'PAPD5', 'score': 11.39}, {'connected_gene': 'CNEP1R1', 'score': 10.72}, {'connected_gene': 'GC16P050105', 'score': 0.77}, {'connected_gene': 'RNY4P3', 'score': 0.44}, {'connected_gene': 'LOC101927250', 'score': 0.25}]
chr16 GH16I050201 50201557 50205606 1.07 [{'connected_gene': 'HEATR3', 'score': 23.77}, {'connected_gene': 'ENSG00000252526', 'score': 11.91}, {'connected_gene': 'PAPD5', 'score': 11.91}, {'connected_gene': 'CNEP1R1', 'score': 11.32}, {'connected_gene': 'BRD7', 'score': 10.54}, {'connected_gene': 'GC16M050159', 'score': 0.37}, {'connected_gene': 'ADCY7', 'score': 0.26}]
chr16 GH16I050207 50207420 50211062 1.05 [{'connected_gene': 'HEATR3', 'score': 26.68}, {'connected_gene': 'ENSG00000252526', 'score': 12.08}, {'connected_gene': 'PAPD5', 'score': 12.08}, {'connected_gene': 'CNEP1R1', 'score': 11.27}, {'connected_gene': 'BRD7', 'score': 10.97}, {'connected_gene': 'GC16M050159', 'score': 0.34}, {'connected_gene': 'ADCY7', 'score': 0.28}]
chr16 GH16I050196 50194967 50197342 0.79 [{'connected_gene': 'HEATR3', 'score': 14.29}, {'connected_gene': 'GC16M050159', 'score': 0.39}, {'connected_gene': 'PAPD5', 'score': 0.26}, {'connected_gene': 'ADCY7', 'score': 0.25}]
chr16 GH16I050193 50193600 50194000 0.2 [{'connected_gene': 'HEATR3', 'score': 11.97}, {'connected_gene': 'GC16M050159', 'score': 0.44}, {'connected_gene': 'PAPD5', 'score': 0.26}, {'connected_gene': 'ADCY7', 'score': 0.23}]
chr16 GH16I050183 50183201 50184179 0.4 [{'connected_gene': 'HEATR3', 'score': 20.23}, {'connected_gene': 'GC16M050159', 'score': 0.77}, {'connected_gene': 'PAPD5', 'score': 0.29}, {'connected_gene': 'LOC101927250', 'score': 0.29}]
chr16 GH16I050037 50037401 50040399 1.16 [{'connected_gene': 'HEATR3', 'score': 26.67}, {'connected_gene': 'BRD7', 'score': 10.13}, {'connected_gene': 'CNEP1R1', 'score': 2.32}, {'connected_gene': 'ZNF423', 'score': 1.88}, {'connected_gene': 'GC16P050035', 'score': 0.77}, {'connected_gene': 'PIR40425', 'score': 0.77}, {'connected_gene': 'LOC100130602', 'score': 0.44}]
chr16 GH16I050156 50156650 50156799 0.43 [{'connected_gene': 'HEATR3', 'score': 11.02}, {'connected_gene': 'CNEP1R1', 'score': 10.27}, {'connected_gene': 'BRD7', 'score': 9.48}, {'connected_gene': 'PAPD5', 'score': 0.77}, {'connected_gene': 'LOC101927250', 'score': 0.77}, {'connected_gene': 'GC16M050159', 'score': 0.31}]
chr16 GH16I050160 50160241 50161555 0.65 [{'connected_gene': 'HEATR3', 'score': 11.02}, {'connected_gene': 'CNEP1R1', 'score': 10.27}, {'connected_gene': 'BRD7', 'score': 10.01}, {'connected_gene': 'PAPD5', 'score': 0.44}, {'connected_gene': 'LOC101927250', 'score': 0.44}, {'connected_gene': 'GC16M050159', 'score': 0.34}]
chr16 GH16I050093 50093146 50094639 1.05 [{'connected_gene': 'HEATR3', 'score': 55.81}, {'connected_gene': 'CNEP1R1', 'score': 1.79}, {'connected_gene': 'ADCY7', 'score': 1.72}, {'connected_gene': 'GC16P050098', 'score': 0.77}, {'connected_gene': 'ENSG00000279356', 'score': 0.34}]
chr16 GH16I050280 50280460 50285305 1.48 [{'connected_gene': 'HEATR3', 'score': 4.55}, {'connected_gene': 'ADCY7', 'score': 4.15}, {'connected_gene': 'CYLD', 'score': 1.87}, {'connected_gene': 'PAPD5', 'score': 1.62}, {'connected_gene': 'NOD2', 'score': 1.43}, {'connected_gene': 'CNEP1R1', 'score': 1.38}, {'connected_gene': 'SNX20', 'score': 1.29}, {'connected_gene': 'GC16M050269', 'score': 0.77}, {'connected_gene': 'MIR6771', 'score': 0.44}, {'connected_gene': 'GC16P050277', 'score': 0.39}]
chr16 GH16I049931 49931575 49933789 0.31 [{'connected_gene': 'HEATR3', 'score': 6.91}, {'connected_gene': 'RPL34P29', 'score': 0.77}, {'connected_gene': 'ENSG00000261751', 'score': 0.44}]
chr16 GH16I049986 49986231 49986799 0.46 [{'connected_gene': 'HEATR3', 'score': 15.22}, {'connected_gene': 'PIR45112', 'score': 0.44}, {'connected_gene': 'GC16M049981', 'score': 0.44}, {'connected_gene': 'GC16P050020', 'score': 0.29}]
chr16 GH16I050068 50068750 50068899 0.38 [{'connected_gene': 'HEATR3', 'score': 0.77}, {'connected_gene': 'ENSG00000279356', 'score': 0.77}, {'connected_gene': 'ENSG00000259843', 'score': 0.77}, {'connected_gene': 'GC16P050053', 'score': 0.37}]
chr16 GH16I050065 50065330 50068488 2.21 [{'connected_gene': 'HEATR3', 'score': 606.25}, {'connected_gene': 'ENSG00000259843', 'score': 550.77}, {'connected_gene': 'ENSG00000279356', 'score': 0.44}, {'connected_gene': 'GC16P050053', 'score': 0.39}]
chr16 GH16I050300 50300980 50302383 0.52 [{'connected_gene': 'BRD7', 'score': 11.89}, {'connected_gene': 'CNEP1R1', 'score': 10.37}, {'connected_gene': 'HEATR3', 'score': 4.58}, {'connected_gene': 'MIR6771', 'score': 0.44}, {'connected_gene': 'GC16P050338', 'score': 0.28}, {'connected_gene': 'ADCY7', 'score': 0.22}]
chr16 GH16I050228 50228167 50229207 0.71 [{'connected_gene': 'CNEP1R1', 'score': 11.07}, {'connected_gene': 'ENSG00000252526', 'score': 11.01}, {'connected_gene': 'PAPD5', 'score': 11.01}, {'connected_gene': 'HEATR3', 'score': 10.82}, {'connected_gene': 'BRD7', 'score': 10.79}, {'connected_gene': 'ADCY7', 'score': 0.37}, {'connected_gene': 'GC16M050159', 'score': 0.26}]
chr16 GH16I050024 50024478 50026557 2.06 [{'connected_gene': 'CNEP1R1', 'score': 550.77}, {'connected_gene': 'HEATR3', 'score': 21.04}, {'connected_gene': 'BRD7', 'score': 9.49}, {'connected_gene': 'GC16P050020', 'score': 0.77}, {'connected_gene': 'GC16P050035', 'score': 0.39}, {'connected_gene': 'PIR40425', 'score': 0.39}]
chr16 GH16I050250 50250711 50252723 0.63 [{'connected_gene': 'ADCY7', 'score': 13.68}, {'connected_gene': 'HEATR3', 'score': 12.19}, {'connected_gene': 'GC16P050277', 'score': 0.37}]
chr16 GH16I050214 50214050 50214199 0.69 [{'connected_gene': 'ENSG00000252526', 'score': 11.5}, {'connected_gene': 'PAPD5', 'score': 11.5}, {'connected_gene': 'HEATR3', 'score': 11.18}, {'connected_gene': 'BRD7', 'score': 11.02}, {'connected_gene': 'CNEP1R1', 'score': 10.78}, {'connected_gene': 'GC16M050159', 'score': 0.31}, {'connected_gene': 'ADCY7', 'score': 0.29}]
chr16 GH16I050206 50206601 50206800 0.2 [{'connected_gene': 'ENSG00000252526', 'score': 11.91}, {'connected_gene': 'PAPD5', 'score': 11.91}, {'connected_gene': 'HEATR3', 'score': 11.5}, {'connected_gene': 'CNEP1R1', 'score': 11.26}, {'connected_gene': 'BRD7', 'score': 10.54}, {'connected_gene': 'GC16M050159', 'score': 0.34}, {'connected_gene': 'ADCY7', 'score': 0.28}]
chr16 GH16I050099 50099576 50100425 0.2 [{'connected_gene': 'GC16P050098', 'score': 550.77}, {'connected_gene': 'RNY4P3', 'score': 550.77}, {'connected_gene': 'HEATR3', 'score': 28.65}, {'connected_gene': 'GC16P050105', 'score': 0.44}, {'connected_gene': 'LOC101927250', 'score': 0.23}]
chr16 GH16I050096 50096910 50097059 0.31 [{'connected_gene': 'GC16P050098', 'score': 550.77}, {'connected_gene': 'RNY4P3', 'score': 550.77}, {'connected_gene': 'ENSG00000279356', 'score': 0.34}, {'connected_gene': 'HEATR3', 'score': 0.29}]
chr16 GH16I050120 50120614 50122316 0.73 [{'connected_gene': 'GC16P050122', 'score': 550.77}, {'connected_gene': 'HEATR3', 'score': 44.65}, {'connected_gene': 'ENSG00000252526', 'score': 12.32}, {'connected_gene': 'PAPD5', 'score': 12.32}, {'connected_gene': 'BRD7', 'score': 10.74}, {'connected_gene': 'GC16P050105', 'score': 0.37}, {'connected_gene': 'LOC101927250', 'score': 0.29}]
chr16 GH16I050184 50184658 50186137 0.88 [{'connected_gene': 'GC16M050159', 'score': 550.77}, {'connected_gene': 'HEATR3', 'score': 22.6}, {'connected_gene': 'PAPD5', 'score': 0.29}, {'connected_gene': 'LOC101927250', 'score': 0.29}]
chr16 GH16I050034 50034763 50036676 0.86 [{'connected_gene': 'GC16P050035', 'score': 550.77}, {'connected_gene': 'PIR40425', 'score': 550.77}, {'connected_gene': 'HEATR3', 'score': 49.9}, {'connected_gene': 'CNEP1R1', 'score': 0.39}, {'connected_gene': 'LOC100130602', 'score': 0.39}]
chr16 GH16I050071 50071190 50071339 0.84 [{'connected_gene': 'ENSG00000279356', 'score': 550.77}, {'connected_gene': 'HEATR3', 'score': 9.51}, {'connected_gene': 'ENSG00000259843', 'score': 0.44}, {'connected_gene': 'GC16P050053', 'score': 0.37}]

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