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
ENST00000397703 [[22941867, 22942058], [22947660, 22947801], [22958149, 22958197], [22960209, 22961071]] [[22960514, 22960982]]
ENST00000520607 [[22941915, 22942058], [22947660, 22947801], [22958149, 22958197], [22969232, 22969338], [22972169, 22972283], [22973020, 22973049]] None
ENST00000356864 [[22960102, 22960694], [22969232, 22969338], [22972169, 22972283], [22973020, 22973129], [22974153, 22974950]] [[22960634, 22960694], [22969232, 22969338], [22972169, 22972283], [22973020, 22973129], [22974153, 22974544]]
ENST00000517558 [[22960433, 22960694], [22972169, 22972283], [22973020, 22973129], [22974153, 22974563]] [[22960634, 22960694], [22972169, 22972283], [22973020, 22973050]]
ENST00000540813 [[22960433, 22960694], [22972169, 22972283], [22973020, 22973129], [22974153, 22974563]] [[22973046, 22973129], [22974153, 22974544]]
ENST00000518135 [[22972019, 22972283], [22973020, 22973129], [22974153, 22974187]] None
NM_003841 [[22960326, 22960694], [22969232, 22969338], [22972169, 22972283], [22973020, 22973129], [22974153, 22974950]] [[22960634, 22960694], [22969232, 22969338], [22972169, 22972283], [22973020, 22973129], [22974153, 22974544]]
Promoter
Chrom Start End Description
chr8 22941897 22941933 CAGE_peak_2_at_TNFRSF10C_5end
chr8 22960426 22960442 CAGE_peak_1_at_TNFRSF10C_5end
chr8 22972215 22972223 CAGE_peak_5_at_TNFRSF10C_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I023538 23538165 23543672 1.61 [{'connected_gene': 'ENTPD4', 'score': 28.37}, {'connected_gene': 'ENSG00000253200', 'score': 17.04}, {'connected_gene': 'C8orf58', 'score': 13.65}, {'connected_gene': 'BIN3', 'score': 13.55}, {'connected_gene': 'LOC107986927', 'score': 13.12}, {'connected_gene': 'CHMP7', 'score': 12.1}, {'connected_gene': 'ENSG00000253390', 'score': 10.83}, {'connected_gene': 'SLC25A37', 'score': 8.22}, {'connected_gene': 'STC1', 'score': 5.14}, {'connected_gene': 'TNFRSF10B', 'score': 3.56}, {'connected_gene': 'TNFRSF10C', 'score': 3.21}, {'connected_gene': 'GC08M023551', 'score': 0.39}]
chr8 GH08I023217 23217150 23222000 1.34 [{'connected_gene': 'CHMP7', 'score': 29.45}, {'connected_gene': 'ENSG00000253200', 'score': 20.65}, {'connected_gene': 'TNFRSF10A', 'score': 17.2}, {'connected_gene': 'LOC100507071', 'score': 12.56}, {'connected_gene': 'CCAR2', 'score': 12.52}, {'connected_gene': 'C8orf58', 'score': 12.29}, {'connected_gene': 'SORBS3', 'score': 12.01}, {'connected_gene': 'LOC107986927', 'score': 11.8}, {'connected_gene': 'TNFRSF10C', 'score': 11.05}, {'connected_gene': 'R3HCC1', 'score': 10.87}, {'connected_gene': 'ENTPD4', 'score': 10.47}, {'connected_gene': 'LOC100507156', 'score': 9.85}, {'connected_gene': 'LOC389641', 'score': 8.06}, {'connected_gene': 'TNFRSF10B', 'score': 1.55}, {'connected_gene': 'PIR52536', 'score': 0.39}]
chr8 GH08I023067 23067088 23070722 2.3 [{'connected_gene': 'TNFRSF10B', 'score': 566.92}, {'connected_gene': 'LOC286059', 'score': 550.77}, {'connected_gene': 'ENSG00000253616', 'score': 22.75}, {'connected_gene': 'PHYHIP', 'score': 13.05}, {'connected_gene': 'FAM160B2', 'score': 12.63}, {'connected_gene': 'ENSG00000253200', 'score': 10.9}, {'connected_gene': 'BMP1', 'score': 10.25}, {'connected_gene': 'TNFRSF10C', 'score': 7.8}, {'connected_gene': 'PEBP4', 'score': 5.14}, {'connected_gene': 'PPP3CC', 'score': 4.42}]
chr8 GH08I023158 23158893 23159055 0.23 [{'connected_gene': 'TNFRSF10C', 'score': 16.12}, {'connected_gene': 'ENSG00000250714', 'score': 11.07}, {'connected_gene': 'ENTPD4', 'score': 5.15}, {'connected_gene': 'BIN3', 'score': 2.98}, {'connected_gene': 'TNFRSF10D', 'score': 0.44}, {'connected_gene': 'GC08P023143', 'score': 0.37}]
chr8 GH08I023525 23525196 23525800 1.29 [{'connected_gene': 'TNFRSF10C', 'score': 32.5}, {'connected_gene': 'ENTPD4', 'score': 15.56}, {'connected_gene': 'SLC25A37', 'score': 5.74}, {'connected_gene': 'BIN3', 'score': 4.95}, {'connected_gene': 'LOC101929315', 'score': 4.08}, {'connected_gene': 'LOC105379327', 'score': 0.29}]
chr8 GH08I023128 23128904 23129997 0.75 [{'connected_gene': 'TNFRSF10C', 'score': 11.84}, {'connected_gene': 'CHMP7', 'score': 10.8}, {'connected_gene': 'R3HCC1', 'score': 10.78}, {'connected_gene': 'GC08P023143', 'score': 0.39}, {'connected_gene': 'LOC254896', 'score': 0.25}]
chr8 GH08I023082 23082967 23085055 1.33 [{'connected_gene': 'TNFRSF10C', 'score': 564.84}, {'connected_gene': 'LOC254896', 'score': 550.77}, {'connected_gene': 'ENSG00000253616', 'score': 25.22}, {'connected_gene': 'LOXL2', 'score': 9.28}, {'connected_gene': 'LOC101929237', 'score': 8.93}, {'connected_gene': 'LOC286059', 'score': 0.37}]
chr8 GH08I023103 23102788 23103801 1.56 [{'connected_gene': 'TNFRSF10C', 'score': 572.86}, {'connected_gene': 'LOC254896', 'score': 0.37}, {'connected_gene': 'GC08P023143', 'score': 0.28}]
chr8 GH08I023102 23102569 23102628 0.61 [{'connected_gene': 'TNFRSF10C', 'score': 550.37}, {'connected_gene': 'LOC254896', 'score': 0.37}, {'connected_gene': 'GC08P023143', 'score': 0.26}]
chr8 GH08I023105 23105303 23106446 0.85 [{'connected_gene': 'TNFRSF10C', 'score': 20.27}, {'connected_gene': 'LOC254896', 'score': 0.34}, {'connected_gene': 'GC08P023143', 'score': 0.28}]
chr8 GH08I023094 23094094 23094754 0.54 [{'connected_gene': 'TNFRSF10C', 'score': 12.51}, {'connected_gene': 'LOC254896', 'score': 0.39}, {'connected_gene': 'GC08P023143', 'score': 0.25}]
chr8 GH08I023159 23159833 23164944 2.49 [{'connected_gene': 'TNFRSF10D', 'score': 557.76}, {'connected_gene': 'ENSG00000253200', 'score': 47.32}, {'connected_gene': 'ENTPD4', 'score': 31.4}, {'connected_gene': 'C8orf58', 'score': 28.97}, {'connected_gene': 'POLR3D', 'score': 24.37}, {'connected_gene': 'CCAR2', 'score': 22.78}, {'connected_gene': 'BIN3', 'score': 13.46}, {'connected_gene': 'CHMP7', 'score': 12.77}, {'connected_gene': 'TNFRSF10A', 'score': 11.98}, {'connected_gene': 'LOC389641', 'score': 11.98}, {'connected_gene': 'ENSG00000250714', 'score': 11.88}, {'connected_gene': 'TNFRSF10C', 'score': 11.59}, {'connected_gene': 'R3HCC1', 'score': 11.35}, {'connected_gene': 'SORBS3', 'score': 11.29}, {'connected_gene': 'LOC107986927', 'score': 10.64}, {'connected_gene': 'LOXL2', 'score': 10.36}, {'connected_gene': 'ENSG00000253390', 'score': 10.34}, {'connected_gene': 'TNFRSF10B', 'score': 6.08}, {'connected_gene': 'GC08P023143', 'score': 0.37}]
chr8 GH08I022611 22611084 22611394 0.22 [{'connected_gene': 'PDLIM2', 'score': 13.57}, {'connected_gene': 'ENSG00000248235', 'score': 11.17}, {'connected_gene': 'LOC101929237', 'score': 9.88}, {'connected_gene': 'TNFRSF10C', 'score': 7.24}, {'connected_gene': 'BIN3', 'score': 3.93}, {'connected_gene': 'EGR3', 'score': 1.28}, {'connected_gene': 'ENSG00000253200', 'score': 0.44}, {'connected_gene': 'CCAR2', 'score': 0.44}]
chr8 GH08I022715 22715001 22716796 1.56 [{'connected_gene': 'BIN3', 'score': 19.83}, {'connected_gene': 'XPO7', 'score': 10.9}, {'connected_gene': 'CCAR2', 'score': 10.19}, {'connected_gene': 'PEBP4', 'score': 6.87}, {'connected_gene': 'TNFRSF10C', 'score': 2.55}, {'connected_gene': 'PDLIM2', 'score': 2.06}, {'connected_gene': 'EGR3', 'score': 1.72}, {'connected_gene': 'TNFRSF10B', 'score': 1.4}, {'connected_gene': 'PPP3CC', 'score': 1.3}, {'connected_gene': 'GC08P022700', 'score': 0.37}, {'connected_gene': 'ENSG00000253125', 'score': 0.31}, {'connected_gene': 'GC08M022705', 'score': 0.26}]
chr8 GH08I023120 23120208 23120357 0.65 [{'connected_gene': 'C8orf58', 'score': 15.23}, {'connected_gene': 'ENSG00000253200', 'score': 14.97}, {'connected_gene': 'LOXL2', 'score': 13.85}, {'connected_gene': 'BMP1', 'score': 13.58}, {'connected_gene': 'LOC107986927', 'score': 12.95}, {'connected_gene': 'SORBS3', 'score': 12.64}, {'connected_gene': 'POLR3D', 'score': 10.18}, {'connected_gene': 'GC08P023143', 'score': 0.34}, {'connected_gene': 'TNFRSF10C', 'score': 0.28}, {'connected_gene': 'LOC254896', 'score': 0.28}]
chr8 GH08I023527 23527435 23533888 2.72 [{'connected_gene': 'SLC25A37', 'score': 560.27}, {'connected_gene': 'ENSG00000253200', 'score': 19.0}, {'connected_gene': 'ENTPD4', 'score': 15.02}, {'connected_gene': 'TNFRSF10C', 'score': 13.23}, {'connected_gene': 'LOC107986927', 'score': 13.21}, {'connected_gene': 'C8orf58', 'score': 10.72}, {'connected_gene': 'LOXL2', 'score': 10.51}, {'connected_gene': 'BIN3', 'score': 4.95}, {'connected_gene': 'TNFRSF10B', 'score': 1.21}, {'connected_gene': 'GC08M023551', 'score': 0.34}]
chr8 GH08I023497 23496329 23496429 0.46 [{'connected_gene': 'SLC25A37', 'score': 18.74}, {'connected_gene': 'ENTPD4', 'score': 10.68}, {'connected_gene': 'ENSG00000253390', 'score': 10.68}, {'connected_gene': 'TNFRSF10C', 'score': 1.66}, {'connected_gene': 'LOC105379327', 'score': 0.77}]
chr8 GH08I023557 23557683 23562501 1.55 [{'connected_gene': 'SLC25A37', 'score': 19.15}, {'connected_gene': 'ENTPD4', 'score': 14.79}, {'connected_gene': 'ENSG00000253390', 'score': 10.67}, {'connected_gene': 'NKX3-1', 'score': 10.56}, {'connected_gene': 'RNU4-71P', 'score': 10.46}, {'connected_gene': 'ENSG00000253200', 'score': 5.06}, {'connected_gene': 'EGR3', 'score': 5.03}, {'connected_gene': 'TNFRSF10C', 'score': 1.6}, {'connected_gene': 'TNFRSF10B', 'score': 1.54}, {'connected_gene': 'GC08M023551', 'score': 0.44}]
chr8 GH08I023174 23174526 23178458 1.41 [{'connected_gene': 'LOC389641', 'score': 16.82}, {'connected_gene': 'CHMP7', 'score': 12.27}, {'connected_gene': 'TNFRSF10A', 'score': 11.98}, {'connected_gene': 'ENSG00000250714', 'score': 11.82}, {'connected_gene': 'R3HCC1', 'score': 11.27}, {'connected_gene': 'TNFRSF10C', 'score': 11.22}, {'connected_gene': 'TNFRSF10D', 'score': 2.76}, {'connected_gene': 'TNFRSF10B', 'score': 1.91}, {'connected_gene': 'TNFRSF10A-AS1', 'score': 0.39}]
chr8 GH08I023089 23089601 23090000 0.4 [{'connected_gene': 'LOC254896', 'score': 0.44}, {'connected_gene': 'TNFRSF10C', 'score': 0.44}, {'connected_gene': 'GC08P023143', 'score': 0.23}]
chr8 GH08I023090 23090201 23091000 0.66 [{'connected_gene': 'LOC254896', 'score': 0.44}, {'connected_gene': 'TNFRSF10C', 'score': 0.44}, {'connected_gene': 'GC08P023143', 'score': 0.23}]
chr8 GH08I023091 23091801 23093216 1 [{'connected_gene': 'LOC254896', 'score': 0.44}, {'connected_gene': 'TNFRSF10C', 'score': 0.44}, {'connected_gene': 'GC08P023143', 'score': 0.23}]
chr8 GH08I023063 23063262 23066178 1.01 [{'connected_gene': 'RHOBTB2', 'score': 11.43}, {'connected_gene': 'TNFRSF10B', 'score': 9.43}, {'connected_gene': 'TNFRSF10C', 'score': 6.03}, {'connected_gene': 'LOC286059', 'score': 0.77}, {'connected_gene': 'PIR57431', 'score': 0.28}]
chr8 GH08I022700 22700275 22706271 1.66 [{'connected_gene': 'XPO7', 'score': 15.37}, {'connected_gene': 'BIN3', 'score': 14.21}, {'connected_gene': 'CCAR2', 'score': 13.8}, {'connected_gene': 'ENSG00000253200', 'score': 10.43}, {'connected_gene': 'NPM2', 'score': 4.67}, {'connected_gene': 'TNFRSF10C', 'score': 3.88}, {'connected_gene': 'PDLIM2', 'score': 3.17}, {'connected_gene': 'TNFRSF10B', 'score': 2.66}, {'connected_gene': 'PPP3CC', 'score': 1.91}, {'connected_gene': 'EGR3', 'score': 1.87}, {'connected_gene': 'GC08P022700', 'score': 0.77}, {'connected_gene': 'ENSG00000253125', 'score': 0.39}, {'connected_gene': 'GC08M022705', 'score': 0.23}]
chr8 GH08I022692 22692788 22696377 2.6 [{'connected_gene': 'EGR3', 'score': 552.04}, {'connected_gene': 'LOC105379322', 'score': 550.77}, {'connected_gene': 'LOC105379321', 'score': 550.77}, {'connected_gene': 'FAM160B2', 'score': 55.73}, {'connected_gene': 'ENSG00000253200', 'score': 52.18}, {'connected_gene': 'BMP1', 'score': 36.09}, {'connected_gene': 'LOC107986927', 'score': 34.4}, {'connected_gene': 'LOXL2', 'score': 33.39}, {'connected_gene': 'XPO7', 'score': 30.34}, {'connected_gene': 'C8orf58', 'score': 24.27}, {'connected_gene': 'CCAR2', 'score': 22.83}, {'connected_gene': 'SORBS3', 'score': 22.01}, {'connected_gene': 'BIN3', 'score': 18.48}, {'connected_gene': 'ENTPD4', 'score': 10.75}, {'connected_gene': 'LOC100507071', 'score': 10.42}, {'connected_gene': 'POLR3D', 'score': 10.21}, {'connected_gene': 'ENSG00000251034', 'score': 10.12}, {'connected_gene': 'LOC101929237', 'score': 10.02}, {'connected_gene': 'TNFRSF10C', 'score': 5.87}, {'connected_gene': 'PDLIM2', 'score': 2.67}, {'connected_gene': 'PPP3CC', 'score': 1.46}, {'connected_gene': 'ENSG00000253125', 'score': 0.77}]
chr8 GH08I023598 23598685 23598842 0.25 [{'connected_gene': 'RNU4-71P', 'score': 550.77}, {'connected_gene': 'TNFRSF10C', 'score': 13.68}, {'connected_gene': 'ENTPD4', 'score': 6.37}, {'connected_gene': 'GC08M023551', 'score': 0.26}]
chr8 GH08I023121 23120588 23120737 0.57 [{'connected_gene': 'LOC100507071', 'score': 12.56}, {'connected_gene': 'CCAR2', 'score': 12.52}, {'connected_gene': 'GC08P023143', 'score': 0.34}, {'connected_gene': 'LOC254896', 'score': 0.28}, {'connected_gene': 'TNFRSF10C', 'score': 0.28}]
chr8 GH08I023448 23448736 23453397 1.29 [{'connected_gene': 'ENSG00000253200', 'score': 14.77}, {'connected_gene': 'C8orf58', 'score': 13.63}, {'connected_gene': 'ENTPD4', 'score': 12.6}, {'connected_gene': 'SLC25A37', 'score': 9.45}, {'connected_gene': 'ENSG00000253390', 'score': 5.73}, {'connected_gene': 'TNFRSF10C', 'score': 5.02}, {'connected_gene': 'GC08M023453', 'score': 0.44}, {'connected_gene': 'GC08P023434', 'score': 0.37}, {'connected_gene': 'PIR51990', 'score': 0.37}]
chr8 GH08I023073 23073601 23076200 1.48 [{'connected_gene': 'ENSG00000253616', 'score': 574.46}, {'connected_gene': 'ENSG00000253200', 'score': 43.22}, {'connected_gene': 'C8orf58', 'score': 34.34}, {'connected_gene': 'FAM160B2', 'score': 29.15}, {'connected_gene': 'LOC107986927', 'score': 22.99}, {'connected_gene': 'CHMP7', 'score': 22.71}, {'connected_gene': 'BMP1', 'score': 22.55}, {'connected_gene': 'LOXL2', 'score': 13.84}, {'connected_gene': 'PHYHIP', 'score': 13.05}, {'connected_gene': 'CCAR2', 'score': 12.74}, {'connected_gene': 'SORBS3', 'score': 12.64}, {'connected_gene': 'ENTPD4', 'score': 10.23}, {'connected_gene': 'POLR3D', 'score': 10.19}, {'connected_gene': 'TNFRSF10C', 'score': 9.52}, {'connected_gene': 'TNFRSF10B', 'score': 5.45}, {'connected_gene': 'LOC286059', 'score': 0.44}, {'connected_gene': 'LOC254896', 'score': 0.44}]
chr8 GH08I023546 23546675 23549197 1.68 [{'connected_gene': 'ENSG00000253200', 'score': 15.09}, {'connected_gene': 'LOXL2', 'score': 13.92}, {'connected_gene': 'C8orf58', 'score': 9.84}, {'connected_gene': 'SLC25A37', 'score': 8.86}, {'connected_gene': 'ENTPD4', 'score': 5.39}, {'connected_gene': 'TNFRSF10B', 'score': 2.51}, {'connected_gene': 'TNFRSF10C', 'score': 1.82}, {'connected_gene': 'GC08M023551', 'score': 0.44}]
chr8 GH08I023119 23119201 23119400 0.2 [{'connected_gene': 'GC08P023143', 'score': 0.34}, {'connected_gene': 'LOC254896', 'score': 0.29}, {'connected_gene': 'TNFRSF10C', 'score': 0.29}]
chr8 GH08I023118 23118888 23119037 0.31 [{'connected_gene': 'GC08P023143', 'score': 0.34}, {'connected_gene': 'LOC254896', 'score': 0.29}, {'connected_gene': 'TNFRSF10C', 'score': 0.29}]

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