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
ENST00000423674 [[10443014, 10443303], [10536960, 10537046], [10546390, 10546487], [10559859, 10559973]] [[10559883, 10559973]]
ENST00000307845 [[10443032, 10443303], [10536960, 10537046], [10559859, 10560261], [10563108, 10563214], [10566849, 10567735]] [[10559883, 10560261], [10563108, 10563214], [10566849, 10566947]]
ENST00000381765 [[10443825, 10444068], [10536960, 10537046], [10548687, 10548860], [10559859, 10560261], [10563108, 10563214], [10566849, 10567743]] [[10559883, 10560261], [10563108, 10563214], [10566849, 10566947]]
ENST00000419810 [[10464472, 10464522], [10494341, 10494507], [10536960, 10537046], [10548687, 10548860], [10559859, 10560261], [10563108, 10566107], [10566345, 10566621], [10566849, 10567478]] [[10559883, 10560261], [10563108, 10563258]]
ENST00000422133 [[10560146, 10560261], [10563108, 10563214], [10564650, 10564739], [10566849, 10567126]] [[10560146, 10560261], [10563108, 10563214], [10564650, 10564739]]
NM_002149 [[10443029, 10443303], [10536960, 10537046], [10559859, 10560261], [10563108, 10563214], [10566849, 10567743]] [[10559883, 10560261], [10563108, 10563214], [10566849, 10566947]]
NM_134421 [[10443825, 10444068], [10536960, 10537046], [10548687, 10548860], [10559859, 10560261], [10563108, 10563214], [10566849, 10567743]] [[10559883, 10560261], [10563108, 10563214], [10566849, 10566947]]
NM_001258357 [[10470288, 10470336], [10536960, 10537046], [10559859, 10560261], [10563108, 10563214], [10566849, 10567743]] [[10559883, 10560261], [10563108, 10563214], [10566849, 10566947]]
NM_001258358 [[10508803, 10508863], [10536960, 10537046], [10559859, 10560261], [10563108, 10563214], [10566849, 10567743]] [[10559883, 10560261], [10563108, 10563214], [10566849, 10566947]]
NM_001258359 [[10508889, 10509343], [10536960, 10537046], [10559859, 10560261], [10563108, 10563214], [10566849, 10567743]] [[10559883, 10560261], [10563108, 10563214], [10566849, 10566947]]
Promoter
Chrom Start End Description
chr2 10442993 10443051 CAGE_peak_1_at_HPCAL1_5end
chr2 10443105 10443124 CAGE_peak_2_at_HPCAL1_5end
chr2 10508688 10508712 CAGE_peak_8_at_HPCAL1_5end
chr2 10508772 10508805 CAGE_peak_4_at_HPCAL1_5end
chr2 10559858 10559877 CAGE_peak_3_at_HPCAL1_5end
chr2 10560174 10560201 CAGE_peak_7_at_HPCAL1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I010119 10119383 10125485 2.63 [{'connected_gene': 'RRM2', 'score': 563.82}, {'connected_gene': 'ENSG00000284681', 'score': 550.77}, {'connected_gene': 'LOC101929882', 'score': 21.81}, {'connected_gene': 'ENSG00000233502', 'score': 11.78}, {'connected_gene': 'CYS1', 'score': 11.76}, {'connected_gene': 'TAF1B', 'score': 11.1}, {'connected_gene': 'SNORA80B', 'score': 10.78}, {'connected_gene': 'HPCAL1', 'score': 10.68}, {'connected_gene': 'LOC101929691', 'score': 10.09}, {'connected_gene': 'ODC1', 'score': 2.58}]
chr2 GH02I010392 10392597 10394344 1.33 [{'connected_gene': 'HPCAL1', 'score': 17.06}, {'connected_gene': 'TAF1B', 'score': 10.02}, {'connected_gene': 'PIR41580', 'score': 0.37}]
chr2 GH02I010379 10379802 10391280 1.46 [{'connected_gene': 'HPCAL1', 'score': 21.57}, {'connected_gene': 'NOL10', 'score': 15.36}, {'connected_gene': 'LOC101929691', 'score': 12.03}, {'connected_gene': 'LOC101929882', 'score': 11.27}, {'connected_gene': 'TAF1B', 'score': 10.52}, {'connected_gene': 'ENSG00000269973', 'score': 5.15}, {'connected_gene': 'PIR41580', 'score': 0.34}]
chr2 GH02I010277 10277265 10279532 1.7 [{'connected_gene': 'HPCAL1', 'score': 4.94}, {'connected_gene': 'RN7SL66P', 'score': 0.77}, {'connected_gene': 'LOC105373424', 'score': 0.18}]
chr2 GH02I010344 10344801 10345000 0.97 [{'connected_gene': 'HPCAL1', 'score': 15.87}, {'connected_gene': 'LOC101929882', 'score': 13.06}, {'connected_gene': 'KLF11', 'score': 11.04}, {'connected_gene': 'NOL10', 'score': 10.54}, {'connected_gene': 'SNORA80B', 'score': 10.26}, {'connected_gene': 'PIR41580', 'score': 0.2}]
chr2 GH02I010368 10368228 10372255 1.73 [{'connected_gene': 'HPCAL1', 'score': 566.09}, {'connected_gene': 'LOC101929882', 'score': 13.05}, {'connected_gene': 'KLF11', 'score': 11.03}, {'connected_gene': 'NOL10', 'score': 10.55}, {'connected_gene': 'PIR41580', 'score': 0.28}]
chr2 GH02I010403 10403887 10412162 1.77 [{'connected_gene': 'HPCAL1', 'score': 56.88}, {'connected_gene': 'LOC101929882', 'score': 12.75}, {'connected_gene': 'LOC101929691', 'score': 12.29}, {'connected_gene': 'SNORA80B', 'score': 11.52}, {'connected_gene': 'PIR41580', 'score': 0.77}]
chr2 GH02I010327 10327657 10333761 2.14 [{'connected_gene': 'HPCAL1', 'score': 596.14}, {'connected_gene': 'LOC101929691', 'score': 11.69}, {'connected_gene': 'SNORA80B', 'score': 10.35}, {'connected_gene': 'TAF1B', 'score': 4.51}, {'connected_gene': 'PIR41580', 'score': 0.18}]
chr2 GH02I010399 10399648 10403250 1.61 [{'connected_gene': 'HPCAL1', 'score': 25.15}, {'connected_gene': 'LOC101929691', 'score': 12.31}, {'connected_gene': 'SNORA80B', 'score': 11.49}, {'connected_gene': 'KLF11', 'score': 1.59}, {'connected_gene': 'PIR41580', 'score': 0.44}]
chr2 GH02I010350 10350714 10351277 0.66 [{'connected_gene': 'HPCAL1', 'score': 11.4}, {'connected_gene': 'LOC101929691', 'score': 11.25}, {'connected_gene': 'SNORA80B', 'score': 10.03}, {'connected_gene': 'PIR41580', 'score': 0.22}]
chr2 GH02I010339 10339829 10343222 1.02 [{'connected_gene': 'HPCAL1', 'score': 17.69}, {'connected_gene': 'LOC101929691', 'score': 11.22}, {'connected_gene': 'SNORA80B', 'score': 10.26}, {'connected_gene': 'PIR41580', 'score': 0.2}]
chr2 GH02I010363 10363437 10364395 0.65 [{'connected_gene': 'HPCAL1', 'score': 11.41}, {'connected_gene': 'LOC101929691', 'score': 11.09}, {'connected_gene': 'PIR41580', 'score': 0.25}]
chr2 GH02I010362 10362022 10362762 0.62 [{'connected_gene': 'HPCAL1', 'score': 11.42}, {'connected_gene': 'LOC101929691', 'score': 11.1}, {'connected_gene': 'PIR41580', 'score': 0.25}]
chr2 GH02I010349 10349766 10349871 0.22 [{'connected_gene': 'HPCAL1', 'score': 17.2}, {'connected_gene': 'LOC101929691', 'score': 11.25}, {'connected_gene': 'PIR41580', 'score': 0.21}]
chr2 GH02I010361 10361314 10361656 0.86 [{'connected_gene': 'HPCAL1', 'score': 12.05}, {'connected_gene': 'SNORA80B', 'score': 10.3}, {'connected_gene': 'C2orf48', 'score': 1.62}, {'connected_gene': 'PIR41580', 'score': 0.25}]
chr2 GH02I010412 10412400 10416307 1.23 [{'connected_gene': 'HPCAL1', 'score': 21.34}, {'connected_gene': 'SNORA80B', 'score': 12.04}, {'connected_gene': 'PIR41580', 'score': 0.77}, {'connected_gene': 'GC02M010446', 'score': 0.29}]
chr2 GH02I010417 10417935 10418084 0.51 [{'connected_gene': 'HPCAL1', 'score': 19.93}, {'connected_gene': 'SNORA80B', 'score': 12.06}, {'connected_gene': 'PIR41580', 'score': 0.44}, {'connected_gene': 'GC02M010446', 'score': 0.31}]
chr2 GH02I010336 10336185 10337881 0.54 [{'connected_gene': 'HPCAL1', 'score': 15.94}, {'connected_gene': 'SNORA80B', 'score': 9.97}, {'connected_gene': 'ENSG00000257135', 'score': 4.58}, {'connected_gene': 'PIR41580', 'score': 0.19}]
chr2 GH02I010424 10424155 10424304 0.51 [{'connected_gene': 'HPCAL1', 'score': 18.32}, {'connected_gene': 'SNORA80B', 'score': 12.08}, {'connected_gene': 'PIR41580', 'score': 0.39}, {'connected_gene': 'GC02M010446', 'score': 0.34}]
chr2 GH02I010421 10421515 10422888 0.2 [{'connected_gene': 'HPCAL1', 'score': 19.56}, {'connected_gene': 'SNORA80B', 'score': 12.08}, {'connected_gene': 'PIR41580', 'score': 0.39}, {'connected_gene': 'GC02M010446', 'score': 0.34}]
chr2 GH02I010355 10355597 10356753 0.69 [{'connected_gene': 'HPCAL1', 'score': 12.06}, {'connected_gene': 'SNORA80B', 'score': 10.29}, {'connected_gene': 'PIR41580', 'score': 0.23}]
chr2 GH02I010360 10360751 10361245 0.43 [{'connected_gene': 'HPCAL1', 'score': 12.05}, {'connected_gene': 'SNORA80B', 'score': 10.3}, {'connected_gene': 'PIR41580', 'score': 0.25}]
chr2 GH02I010343 10343315 10343464 0.98 [{'connected_gene': 'HPCAL1', 'score': 11.22}, {'connected_gene': 'SNORA80B', 'score': 10.26}, {'connected_gene': 'PIR41580', 'score': 0.2}]
chr2 GH02I010347 10347201 10347600 0.58 [{'connected_gene': 'HPCAL1', 'score': 11.22}, {'connected_gene': 'SNORA80B', 'score': 10.27}, {'connected_gene': 'PIR41580', 'score': 0.21}]
chr2 GH02I010359 10359989 10360348 0.2 [{'connected_gene': 'HPCAL1', 'score': 12.05}, {'connected_gene': 'SNORA80B', 'score': 10.3}, {'connected_gene': 'PIR41580', 'score': 0.25}]
chr2 GH02I010400 10399547 10399606 0.7 [{'connected_gene': 'HPCAL1', 'score': 561.9}, {'connected_gene': 'PIR41580', 'score': 0.39}]
chr2 GH02I010397 10397201 10399235 0.83 [{'connected_gene': 'HPCAL1', 'score': 22.01}, {'connected_gene': 'PIR41580', 'score': 0.39}]
chr2 GH02I010375 10375055 10376535 0.8 [{'connected_gene': 'HPCAL1', 'score': 11.15}, {'connected_gene': 'PIR41580', 'score': 0.29}]
chr2 GH02I010307 10307201 10308200 1.09 [{'connected_gene': 'HPCAL1', 'score': 0.77}, {'connected_gene': 'PIR41580', 'score': 0.15}]
chr2 GH02I010315 10315310 10317609 0.38 [{'connected_gene': 'HPCAL1', 'score': 0.39}, {'connected_gene': 'PIR41580', 'score': 0.16}]
chr2 GH02I010282 10282327 10287579 1.67 [{'connected_gene': 'RN7SL832P', 'score': 5.57}, {'connected_gene': 'HPCAL1', 'score': 2.55}, {'connected_gene': 'RN7SL66P', 'score': 0.77}, {'connected_gene': 'GC02M010296', 'score': 0.39}]
chr2 GH02I010269 10269334 10272878 1.32 [{'connected_gene': 'LOC101929882', 'score': 13.05}, {'connected_gene': 'LOC101929691', 'score': 12.79}, {'connected_gene': 'HPCAL1', 'score': 12.49}, {'connected_gene': 'KLF11', 'score': 11.05}, {'connected_gene': 'SNORA80B', 'score': 10.41}, {'connected_gene': 'RN7SL66P', 'score': 0.44}, {'connected_gene': 'LOC105373424', 'score': 0.2}]
chr2 GH02I010300 10300530 10306321 2.54 [{'connected_gene': 'LOC101929691', 'score': 550.77}, {'connected_gene': 'HPCAL1', 'score': 550.77}, {'connected_gene': 'KLF11', 'score': 13.46}, {'connected_gene': 'LOC101929882', 'score': 13.05}, {'connected_gene': 'PIR41580', 'score': 0.14}]
chr2 GH02I010444 10444557 10445032 0.6 [{'connected_gene': 'LOC101929691', 'score': 10.38}, {'connected_gene': 'HPCAL1', 'score': 10.23}, {'connected_gene': 'SNORA80B', 'score': 0.77}, {'connected_gene': 'ODC1', 'score': 0.77}, {'connected_gene': 'GC02M010446', 'score': 0.77}, {'connected_gene': 'PIR41580', 'score': 0.29}]
chr2 GH02I010266 10266601 10268659 0.54 [{'connected_gene': 'LOC101929691', 'score': 12.79}, {'connected_gene': 'HPCAL1', 'score': 12.47}, {'connected_gene': 'SNORA80B', 'score': 10.41}, {'connected_gene': 'RN7SL66P', 'score': 0.39}, {'connected_gene': 'LOC105373424', 'score': 0.2}]
chr2 GH02I010253 10253467 10255906 0.76 [{'connected_gene': 'LOC101929691', 'score': 11.5}, {'connected_gene': 'HPCAL1', 'score': 11.09}, {'connected_gene': 'SNORA80B', 'score': 10.51}, {'connected_gene': 'ENSG00000233502', 'score': 10.15}, {'connected_gene': 'RN7SL66P', 'score': 0.31}, {'connected_gene': 'LOC105373424', 'score': 0.23}]
chr2 GH02I010273 10273135 10273460 0.52 [{'connected_gene': 'LOC101929691', 'score': 12.81}, {'connected_gene': 'HPCAL1', 'score': 12.5}, {'connected_gene': 'SNORA80B', 'score': 10.41}, {'connected_gene': 'RN7SL66P', 'score': 0.44}, {'connected_gene': 'LOC105373424', 'score': 0.19}]
chr2 GH02I010426 10426825 10429120 0.2 [{'connected_gene': 'LOC101929691', 'score': 11.06}, {'connected_gene': 'HPCAL1', 'score': 6.71}, {'connected_gene': 'SNORA80B', 'score': 0.37}, {'connected_gene': 'PIR41580', 'score': 0.37}, {'connected_gene': 'GC02M010446', 'score': 0.37}]
chr2 GH02I010365 10365625 10366704 1.09 [{'connected_gene': 'LOC101929691', 'score': 11.99}, {'connected_gene': 'HPCAL1', 'score': 11.83}, {'connected_gene': 'PIR41580', 'score': 0.26}]
chr2 GH02I010348 10348537 10349241 0.2 [{'connected_gene': 'LOC101929691', 'score': 11.25}, {'connected_gene': 'HPCAL1', 'score': 0.25}, {'connected_gene': 'PIR41580', 'score': 0.21}]
chr2 GH02I010418 10417655 10417804 0.58 [{'connected_gene': 'SNORA80B', 'score': 12.06}, {'connected_gene': 'HPCAL1', 'score': 11.08}, {'connected_gene': 'PIR41580', 'score': 0.44}, {'connected_gene': 'GC02M010446', 'score': 0.31}]
chr2 GH02I010325 10325264 10327378 1.28 [{'connected_gene': 'SNORA80B', 'score': 9.88}, {'connected_gene': 'HPCAL1', 'score': 0.34}, {'connected_gene': 'PIR41580', 'score': 0.18}]
chr2 GH02I010323 10323607 10324766 0.8 [{'connected_gene': 'SNORA80B', 'score': 9.88}, {'connected_gene': 'HPCAL1', 'score': 0.34}, {'connected_gene': 'PIR41580', 'score': 0.17}]
chr2 GH02I010445 10445104 10446087 0.67 [{'connected_gene': 'SNORA80B', 'score': 550.77}, {'connected_gene': 'GC02M010446', 'score': 550.77}, {'connected_gene': 'LOC101929691', 'score': 10.38}, {'connected_gene': 'HPCAL1', 'score': 10.23}, {'connected_gene': 'ODC1', 'score': 0.77}, {'connected_gene': 'PIR41580', 'score': 0.28}]
chr2 GH02I010378 10378255 10378484 0.69 [{'connected_gene': 'PIR41580', 'score': 0.29}, {'connected_gene': 'HPCAL1', 'score': 0.18}]
chr2 GH02I010116 10116200 10116401 0.6 [{'connected_gene': 'ENSG00000233502', 'score': 11.8}, {'connected_gene': 'CYS1', 'score': 11.78}, {'connected_gene': 'C2orf48', 'score': 11.4}, {'connected_gene': 'HPCAL1', 'score': 10.67}, {'connected_gene': 'RRM2', 'score': 0.77}, {'connected_gene': 'ENSG00000212558', 'score': 0.31}, {'connected_gene': 'GC02M010090', 'score': 0.31}]
chr2 GH02I010118 10118217 10118423 0.77 [{'connected_gene': 'ENSG00000233502', 'score': 11.8}, {'connected_gene': 'CYS1', 'score': 11.78}, {'connected_gene': 'C2orf48', 'score': 11.42}, {'connected_gene': 'HPCAL1', 'score': 10.68}, {'connected_gene': 'RRM2', 'score': 0.77}, {'connected_gene': 'ENSG00000212558', 'score': 0.31}, {'connected_gene': 'GC02M010090', 'score': 0.31}]
chr2 GH02I010117 10117353 10117858 0.43 [{'connected_gene': 'ENSG00000233502', 'score': 11.8}, {'connected_gene': 'CYS1', 'score': 11.78}, {'connected_gene': 'C2orf48', 'score': 11.42}, {'connected_gene': 'HPCAL1', 'score': 10.67}, {'connected_gene': 'RRM2', 'score': 0.77}, {'connected_gene': 'ENSG00000212558', 'score': 0.31}, {'connected_gene': 'GC02M010090', 'score': 0.31}]

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