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
ENST00000288828 [[5229818, 5230124], [5232748, 5232802], [5239206, 5239289], [5254165, 5254335], [5256193, 5256290], [5256720, 5256818], [5257552, 5257645], [5262232, 5262303], [5265453, 5265561], [5266810, 5266975], [5267734, 5267842], [5269238, 5269369], [5270465, 5273457]] [[5230050, 5230124], [5232748, 5232802], [5239206, 5239289], [5254165, 5254335], [5256193, 5256290], [5256720, 5256818], [5257552, 5257645], [5262232, 5262303], [5265453, 5265561], [5266810, 5266975], [5267734, 5267842], [5269238, 5269369], [5270465, 5270578]]
ENST00000401525 [[5229826, 5230124], [5239206, 5239289], [5254165, 5254335], [5256193, 5256290], [5256720, 5256818], [5257552, 5257645], [5262232, 5262303], [5265453, 5265561], [5266810, 5266975], [5267734, 5267842], [5269238, 5269369], [5270465, 5271155]] [[5230050, 5230124], [5239206, 5239289], [5254165, 5254335], [5256193, 5256290], [5256720, 5256818], [5257552, 5257645], [5262232, 5262303], [5265453, 5265561], [5266810, 5266975], [5267734, 5267842], [5269238, 5269369], [5270465, 5270578]]
ENST00000404704 [[5229876, 5230124], [5232748, 5232802], [5239206, 5239289], [5254165, 5254335], [5256193, 5256290], [5256720, 5256818], [5257552, 5257645], [5262232, 5262303], [5265453, 5265561], [5266810, 5266975], [5267734, 5267842], [5269238, 5269336], [5270465, 5270735]] [[5230050, 5230124], [5232748, 5232802], [5239206, 5239289], [5254165, 5254335], [5256193, 5256290], [5256720, 5256818], [5257552, 5257645], [5262232, 5262303], [5265453, 5265561], [5266810, 5266975], [5267734, 5267842], [5269238, 5269336], [5270465, 5270578]]
ENST00000466014 [[5229889, 5230124], [5232748, 5232976], [5239206, 5239289], [5254165, 5254335], [5256193, 5256290], [5256720, 5256818], [5257552, 5257645], [5262232, 5262303], [5265453, 5265561], [5266810, 5266975], [5267734, 5267842], [5269238, 5269369], [5270465, 5270578]] None
ENST00000485854 [[5229895, 5230124], [5239206, 5239289], [5252740, 5253033], [5254165, 5254333]] None
ENST00000382384 [[5229903, 5230124], [5239206, 5239289], [5254165, 5254335], [5256193, 5256290], [5256720, 5256818], [5257552, 5257645], [5262232, 5262303], [5265453, 5265561], [5266810, 5266975], [5267734, 5267842], [5269238, 5269336], [5270465, 5271101]] [[5230050, 5230124], [5239206, 5239289], [5254165, 5254335], [5256193, 5256290], [5256720, 5256818], [5257552, 5257645], [5262232, 5262303], [5265453, 5265561], [5266810, 5266975], [5267734, 5267842], [5269238, 5269336], [5270465, 5270578]]
ENST00000496867 [[5230323, 5230474], [5232748, 5232802], [5239206, 5239289], [5254165, 5254335], [5256193, 5256290], [5256720, 5256818], [5257552, 5257644]] None
ENST00000475309 [[5253816, 5254335], [5256193, 5256290], [5256720, 5258662]] None
ENST00000484262 [[5253899, 5254335], [5256193, 5256290], [5256720, 5256818], [5257552, 5257645], [5262232, 5262303], [5265453, 5265561], [5266810, 5266975], [5267734, 5267842], [5269238, 5269336], [5270465, 5270695]] [[5254131, 5254335], [5256193, 5256290], [5256720, 5256818], [5257552, 5257645], [5262232, 5262303], [5265453, 5265561], [5266810, 5266975], [5267734, 5267842], [5269238, 5269336], [5270465, 5270578]]
ENST00000465102 [[5254191, 5254335], [5256193, 5256290], [5256720, 5256818], [5257552, 5257645], [5262232, 5262443]] None
ENST00000480238 [[5255802, 5255881], [5256193, 5256290], [5256720, 5256818], [5257552, 5257645], [5262232, 5262303], [5265453, 5265485]] None
ENST00000488359 [[5256221, 5256290], [5256379, 5256494], [5256720, 5256818], [5257552, 5257645], [5262232, 5262303], [5265453, 5265609]] None
ENST00000471851 [[5265580, 5266975], [5267734, 5267842], [5269238, 5269369], [5270465, 5271354]] None
ENST00000479690 [[5269038, 5269369], [5270465, 5270958]] None
NM_001033519 [[5229834, 5230124], [5239206, 5239289], [5254165, 5254335], [5256193, 5256290], [5256720, 5256818], [5257552, 5257645], [5262232, 5262303], [5265453, 5265561], [5266810, 5266975], [5267734, 5267842], [5269238, 5269336], [5270465, 5273486]] [[5230050, 5230124], [5239206, 5239289], [5254165, 5254335], [5256193, 5256290], [5256720, 5256818], [5257552, 5257645], [5262232, 5262303], [5265453, 5265561], [5266810, 5266975], [5267734, 5267842], [5269238, 5269336], [5270465, 5270578]]
NM_016003 [[5229834, 5230124], [5239206, 5239289], [5254165, 5254335], [5256193, 5256290], [5256720, 5256818], [5257552, 5257645], [5262232, 5262303], [5265453, 5265561], [5266810, 5266975], [5267734, 5267842], [5269238, 5269369], [5270465, 5273486]] [[5230050, 5230124], [5239206, 5239289], [5254165, 5254335], [5256193, 5256290], [5256720, 5256818], [5257552, 5257645], [5262232, 5262303], [5265453, 5265561], [5266810, 5266975], [5267734, 5267842], [5269238, 5269369], [5270465, 5270578]]
NM_001033518 [[5229834, 5230124], [5232748, 5232802], [5239206, 5239289], [5254165, 5254335], [5256193, 5256290], [5256720, 5256818], [5257552, 5257645], [5262232, 5262303], [5265453, 5265561], [5266810, 5266975], [5267734, 5267842], [5269238, 5269336], [5270465, 5273486]] [[5230050, 5230124], [5232748, 5232802], [5239206, 5239289], [5254165, 5254335], [5256193, 5256290], [5256720, 5256818], [5257552, 5257645], [5262232, 5262303], [5265453, 5265561], [5266810, 5266975], [5267734, 5267842], [5269238, 5269336], [5270465, 5270578]]
NM_015610 [[5229834, 5230124], [5232748, 5232802], [5239206, 5239289], [5254165, 5254335], [5256193, 5256290], [5256720, 5256818], [5257552, 5257645], [5262232, 5262303], [5265453, 5265561], [5266810, 5266975], [5267734, 5267842], [5269238, 5269369], [5270465, 5273486]] [[5230050, 5230124], [5232748, 5232802], [5239206, 5239289], [5254165, 5254335], [5256193, 5256290], [5256720, 5256818], [5257552, 5257645], [5262232, 5262303], [5265453, 5265561], [5266810, 5266975], [5267734, 5267842], [5269238, 5269369], [5270465, 5270578]]
NM_001278299 [[5229834, 5230124], [5232748, 5232976], [5239206, 5239289], [5254165, 5254335], [5256193, 5256290], [5256720, 5256818], [5257552, 5257645], [5262232, 5262303], [5265453, 5265561], [5266810, 5266975], [5267734, 5267842], [5269238, 5269369], [5270465, 5273486]] [[5256244, 5256290], [5256720, 5256818], [5257552, 5257645], [5262232, 5262303], [5265453, 5265561], [5266810, 5266975], [5267734, 5267842], [5269238, 5269369], [5270465, 5270578]]
NM_001033520 [[5253899, 5254335], [5256193, 5256290], [5256720, 5256818], [5257552, 5257645], [5262232, 5262303], [5265453, 5265561], [5266810, 5266975], [5267734, 5267842], [5269238, 5269336], [5270465, 5273486]] [[5254131, 5254335], [5256193, 5256290], [5256720, 5256818], [5257552, 5257645], [5262232, 5262303], [5265453, 5265561], [5266810, 5266975], [5267734, 5267842], [5269238, 5269336], [5270465, 5270578]]
Promoter
Chrom Start End Description
chr7 5229848 5229900 CAGE_peak_1_at_WIPI2_5end
chr7 5229906 5229917 CAGE_peak_2_at_WIPI2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr7 GH07I005360 5360381 5361554 0.59 [{'connected_gene': 'TNRC18', 'score': 27.55}, {'connected_gene': 'USP42', 'score': 23.23}, {'connected_gene': 'AP5Z1', 'score': 16.75}, {'connected_gene': 'ENSG00000241269', 'score': 13.28}, {'connected_gene': 'ENSG00000188365', 'score': 13.28}, {'connected_gene': 'RNF216P1', 'score': 13.1}, {'connected_gene': 'WIPI2', 'score': 10.7}, {'connected_gene': 'ANKRD61', 'score': 9.76}, {'connected_gene': 'GC07P005366', 'score': 0.77}, {'connected_gene': 'PIR36601', 'score': 0.77}, {'connected_gene': 'GC07M005356', 'score': 0.44}, {'connected_gene': 'PIR50038', 'score': 0.44}]
chr7 GH07I005687 5687202 5702250 1.65 [{'connected_gene': 'USP42', 'score': 22.7}, {'connected_gene': 'RNF216P1', 'score': 19.36}, {'connected_gene': 'C7orf26', 'score': 14.82}, {'connected_gene': 'ACTB', 'score': 13.7}, {'connected_gene': 'ZNF316', 'score': 12.72}, {'connected_gene': 'RBAK', 'score': 12.71}, {'connected_gene': 'FBXL18', 'score': 12.41}, {'connected_gene': 'MIR589', 'score': 12.4}, {'connected_gene': 'FSCN1', 'score': 12.22}, {'connected_gene': 'ENSG00000188365', 'score': 12.2}, {'connected_gene': 'RNF216', 'score': 11.91}, {'connected_gene': 'AP5Z1', 'score': 11.1}, {'connected_gene': 'TNRC18', 'score': 10.77}, {'connected_gene': 'ENSG00000241269', 'score': 10.18}, {'connected_gene': 'WIPI2', 'score': 5.51}, {'connected_gene': 'CCZ1', 'score': 2.17}, {'connected_gene': 'RNF216-IT1', 'score': 0.39}, {'connected_gene': 'MIR6874', 'score': 0.37}]
chr7 GH07I005523 5523930 5535065 2.6 [{'connected_gene': 'ACTB', 'score': 551.9}, {'connected_gene': 'PIR61399', 'score': 550.77}, {'connected_gene': 'GC07M005528', 'score': 550.77}, {'connected_gene': 'GC07M005529', 'score': 550.77}, {'connected_gene': 'GC07M005530', 'score': 550.77}, {'connected_gene': 'ANKRD61', 'score': 39.53}, {'connected_gene': 'USP42', 'score': 38.67}, {'connected_gene': 'AP5Z1', 'score': 38.25}, {'connected_gene': 'CCZ1', 'score': 26.59}, {'connected_gene': 'TNRC18', 'score': 25.31}, {'connected_gene': 'RBAK', 'score': 20.4}, {'connected_gene': 'RNF216', 'score': 20.33}, {'connected_gene': 'FBXL18', 'score': 6.35}, {'connected_gene': 'WIPI2', 'score': 1.99}, {'connected_gene': 'LOC221946', 'score': 0.37}]
chr7 GH07I005142 5142610 5144679 1.21 [{'connected_gene': 'ZNF890P', 'score': 550.77}, {'connected_gene': 'OR10AH1P', 'score': 8.42}, {'connected_gene': 'WIPI2', 'score': 6.58}]
chr7 GH07I005088 5088570 5088719 0.56 [{'connected_gene': 'RADIL', 'score': 10.99}, {'connected_gene': 'WIPI2', 'score': 10.64}, {'connected_gene': 'AP5Z1', 'score': 10.39}, {'connected_gene': 'OR10AH1P', 'score': 0.37}, {'connected_gene': 'RBAKDN', 'score': 0.37}]
chr7 GH07I005085 5085386 5085818 0.91 [{'connected_gene': 'RADIL', 'score': 10.99}, {'connected_gene': 'WIPI2', 'score': 10.64}, {'connected_gene': 'AP5Z1', 'score': 10.4}, {'connected_gene': 'RBAKDN', 'score': 0.39}, {'connected_gene': 'OR10AH1P', 'score': 0.37}]
chr7 GH07I005669 5669401 5673569 1.27 [{'connected_gene': 'RNF216', 'score': 5.96}, {'connected_gene': 'ZNF890P', 'score': 5.11}, {'connected_gene': 'USP42', 'score': 3.94}, {'connected_gene': 'TNRC18', 'score': 1.96}, {'connected_gene': 'FBXL18', 'score': 1.25}, {'connected_gene': 'EIF2AK1', 'score': 1.13}, {'connected_gene': 'WIPI2', 'score': 1.11}, {'connected_gene': 'RNF216-IT1', 'score': 0.44}, {'connected_gene': 'FSCN1', 'score': 0.18}]
chr7 GH07I005772 5772401 5775343 1.06 [{'connected_gene': 'RNF216P1', 'score': 19.3}, {'connected_gene': 'ZNF12', 'score': 13.47}, {'connected_gene': 'RBAK', 'score': 12.71}, {'connected_gene': 'USP42', 'score': 10.35}, {'connected_gene': 'FSCN1', 'score': 9.79}, {'connected_gene': 'WIPI2', 'score': 9.72}, {'connected_gene': 'RNF216', 'score': 7.84}, {'connected_gene': 'PIR40049', 'score': 0.34}]
chr7 GH07I005412 5411601 5411800 0.66 [{'connected_gene': 'RNF216P1', 'score': 10.59}, {'connected_gene': 'FSCN1', 'score': 9.79}, {'connected_gene': 'WIPI2', 'score': 9.76}, {'connected_gene': 'ENSG00000241269', 'score': 0.44}, {'connected_gene': 'TNRC18', 'score': 0.39}, {'connected_gene': 'GC07P005375', 'score': 0.28}]
chr7 GH07I004973 4973450 4975454 1.54 [{'connected_gene': 'RNF216P1', 'score': 601.43}, {'connected_gene': 'RNF216', 'score': 22.22}, {'connected_gene': 'TNRC18', 'score': 19.34}, {'connected_gene': 'AP5Z1', 'score': 14.01}, {'connected_gene': 'FOXK1', 'score': 11.51}, {'connected_gene': 'WIPI2', 'score': 11.03}, {'connected_gene': 'RBAK-RBAKDN', 'score': 0.44}]
chr7 GH07I005149 5149266 5149999 0.2 [{'connected_gene': 'WIPI2', 'score': 8.0}, {'connected_gene': 'OR10AH1P', 'score': 5.12}, {'connected_gene': 'RNF216P1', 'score': 4.99}, {'connected_gene': 'EIF2AK1', 'score': 4.94}, {'connected_gene': 'PMS2', 'score': 4.41}, {'connected_gene': 'ZNF890P', 'score': 0.44}, {'connected_gene': 'GC07P005180', 'score': 0.29}]
chr7 GH07I005247 5247899 5249105 0.66 [{'connected_gene': 'WIPI2', 'score': 11.44}, {'connected_gene': 'GC07P005235', 'score': 0.39}, {'connected_gene': 'GC07M005264', 'score': 0.34}]
chr7 GH07I005229 5229498 5233279 1.05 [{'connected_gene': 'WIPI2', 'score': 38.24}, {'connected_gene': 'GC07P005235', 'score': 0.77}]
chr7 GH07I005217 5217642 5220101 1.05 [{'connected_gene': 'WIPI2', 'score': 12.97}, {'connected_gene': 'GC07P005235', 'score': 0.37}]
chr7 GH07I005189 5189590 5192239 2.22 [{'connected_gene': 'WIPI2', 'score': 565.04}, {'connected_gene': 'GC07P005235', 'score': 0.26}]
chr7 GH07I004681 4681383 4685761 2.24 [{'connected_gene': 'FOXK1', 'score': 561.27}, {'connected_gene': 'TNRC18', 'score': 44.82}, {'connected_gene': 'RBAK', 'score': 43.77}, {'connected_gene': 'RNF216P1', 'score': 32.08}, {'connected_gene': 'AP5Z1', 'score': 12.69}, {'connected_gene': 'ENSG00000188365', 'score': 12.25}, {'connected_gene': 'FSCN1', 'score': 9.72}, {'connected_gene': 'WIPI2', 'score': 9.72}, {'connected_gene': 'SNORD13P2', 'score': 0.44}, {'connected_gene': 'GC07M004681', 'score': 0.29}]
chr7 GH07I005551 5551954 5559599 2.32 [{'connected_gene': 'ENSG00000272719', 'score': 550.77}, {'connected_gene': 'AP5Z1', 'score': 11.04}, {'connected_gene': 'ZNF890P', 'score': 5.23}, {'connected_gene': 'EIF2AK1', 'score': 4.81}, {'connected_gene': 'CCZ1', 'score': 2.81}, {'connected_gene': 'ACTB', 'score': 2.55}, {'connected_gene': 'WIPI2', 'score': 1.95}, {'connected_gene': 'GC07M005529', 'score': 0.31}, {'connected_gene': 'GC07M005530', 'score': 0.31}]
chr7 GH07I005354 5354090 5355864 0.94 [{'connected_gene': 'GC07M005356', 'score': 550.77}, {'connected_gene': 'PIR50038', 'score': 550.77}, {'connected_gene': 'ENSG00000241269', 'score': 12.3}, {'connected_gene': 'ENSG00000188365', 'score': 12.3}, {'connected_gene': 'TNRC18', 'score': 12.28}, {'connected_gene': 'WIPI2', 'score': 10.7}, {'connected_gene': 'EIF2AK1', 'score': 4.96}, {'connected_gene': 'GC07P005335', 'score': 0.37}]
chr7 GH07I005356 5356414 5357665 0.43 [{'connected_gene': 'GC07M005356', 'score': 550.77}, {'connected_gene': 'PIR50038', 'score': 550.77}, {'connected_gene': 'ENSG00000241269', 'score': 12.3}, {'connected_gene': 'ENSG00000188365', 'score': 12.3}, {'connected_gene': 'TNRC18', 'score': 12.3}, {'connected_gene': 'WIPI2', 'score': 10.71}, {'connected_gene': 'GC07P005366', 'score': 0.44}, {'connected_gene': 'PIR36601', 'score': 0.44}]
chr7 GH07I005358 5358975 5359980 0.2 [{'connected_gene': 'ENSG00000241269', 'score': 12.3}, {'connected_gene': 'ENSG00000188365', 'score': 12.3}, {'connected_gene': 'TNRC18', 'score': 12.3}, {'connected_gene': 'WIPI2', 'score': 10.71}, {'connected_gene': 'GC07M005356', 'score': 0.77}, {'connected_gene': 'GC07P005366', 'score': 0.77}, {'connected_gene': 'PIR36601', 'score': 0.77}, {'connected_gene': 'PIR50038', 'score': 0.77}]
chr7 GH07I005359 5358110 5358239 0.82 [{'connected_gene': 'ENSG00000241269', 'score': 12.3}, {'connected_gene': 'ENSG00000188365', 'score': 12.3}, {'connected_gene': 'TNRC18', 'score': 12.3}, {'connected_gene': 'WIPI2', 'score': 10.71}, {'connected_gene': 'GC07M005356', 'score': 0.77}, {'connected_gene': 'PIR50038', 'score': 0.77}, {'connected_gene': 'GC07P005366', 'score': 0.44}, {'connected_gene': 'PIR36601', 'score': 0.44}]
chr7 GH07I005353 5353644 5353963 0.58 [{'connected_gene': 'ENSG00000241269', 'score': 12.3}, {'connected_gene': 'ENSG00000188365', 'score': 12.3}, {'connected_gene': 'TNRC18', 'score': 12.28}, {'connected_gene': 'WIPI2', 'score': 10.7}, {'connected_gene': 'PIR50038', 'score': 0.77}, {'connected_gene': 'GC07M005356', 'score': 0.77}, {'connected_gene': 'GC07P005335', 'score': 0.37}]
chr7 GH07I005237 5235310 5235459 0.69 [{'connected_gene': 'GC07P005235', 'score': 550.77}, {'connected_gene': 'PMS2', 'score': 9.99}, {'connected_gene': 'WIPI2', 'score': 0.25}]
chr7 GH07I005235 5235530 5235679 0.54 [{'connected_gene': 'GC07P005235', 'score': 550.77}, {'connected_gene': 'PMS2', 'score': 9.99}, {'connected_gene': 'WIPI2', 'score': 0.25}]
chr7 GH07I005234 5234430 5234579 0.63 [{'connected_gene': 'GC07P005235', 'score': 550.77}, {'connected_gene': 'WIPI2', 'score': 5.39}]
chr7 GH07I005222 5222850 5222999 0.46 [{'connected_gene': 'GC07P005235', 'score': 0.39}, {'connected_gene': 'WIPI2', 'score': 0.29}]

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