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
ENST00000327619 [[45523262, 45523626], [45618639, 45618758], [45630066, 45630112], [45633580, 45633723], [45644819, 45644936], [45700823, 45700891], [45702796, 45702974], [45717877, 45718020], [45725723, 45725807], [45771697, 45771787], [45797786, 45797845], [45801354, 45801515], [45808445, 45808560], [45809462, 45809584], [45811938, 45812039], [45816700, 45817492]] [[45618649, 45618758], [45630066, 45630112], [45633580, 45633723], [45644819, 45644936], [45700823, 45700891], [45702796, 45702974], [45717877, 45718020], [45725723, 45725807], [45771697, 45771787], [45797786, 45797845], [45801354, 45801515], [45808445, 45808560], [45809462, 45809584], [45811938, 45812039], [45816700, 45816781]]
ENST00000357410 [[45523262, 45523626], [45618639, 45618758], [45630066, 45630112], [45633580, 45633723], [45644819, 45644936], [45700823, 45700891], [45702796, 45702974], [45717877, 45718020], [45725723, 45725807], [45771697, 45771787], [45797786, 45797845], [45801354, 45801515], [45811938, 45812039], [45816700, 45817492]] [[45618649, 45618758], [45630066, 45630112], [45633580, 45633723], [45644819, 45644936], [45700823, 45700891], [45702796, 45702974], [45717877, 45718020], [45725723, 45725807], [45771697, 45771787], [45797786, 45797845], [45801354, 45801515], [45811938, 45812039], [45816700, 45816781]]
ENST00000497062 [[45523508, 45523626], [45618639, 45618758], [45630066, 45630112], [45633580, 45633718], [45644886, 45644936], [45700823, 45700891], [45702796, 45702974], [45717877, 45718020], [45725723, 45725807], [45771697, 45771787], [45797786, 45797845], [45801354, 45801515], [45808445, 45808560], [45809462, 45809584], [45811938, 45812039], [45816700, 45817492]] [[45618649, 45618758], [45630066, 45630112], [45633580, 45633718], [45644886, 45644936], [45700823, 45700891], [45702796, 45702974], [45717877, 45718020], [45725723, 45725757]]
ENST00000497428 [[45606873, 45607275], [45618639, 45618709]] None
ENST00000479843 [[45608121, 45608269], [45618639, 45618664]] None
ENST00000471081 [[45608330, 45608428], [45618639, 45618664]] None
ENST00000317304 [[45618639, 45618758], [45630066, 45630112], [45633580, 45633723], [45644819, 45644936], [45700823, 45700891], [45702796, 45702974], [45717877, 45718020], [45725723, 45725807], [45797786, 45797845], [45801354, 45801515], [45808445, 45808560], [45809462, 45809584], [45811938, 45812039], [45816700, 45816784]] [[45618649, 45618758], [45630066, 45630112], [45633580, 45633723], [45644819, 45644936], [45700823, 45700891], [45702796, 45702974], [45717877, 45718020], [45725723, 45725807], [45797786, 45797845], [45801354, 45801515], [45808445, 45808560], [45809462, 45809584], [45811938, 45812039], [45816700, 45816781]]
ENST00000458636 [[45630098, 45630112], [45633580, 45633723], [45644819, 45644936], [45717877, 45718020], [45725723, 45725807], [45771697, 45771788]] [[45630098, 45630112], [45633580, 45633723], [45644819, 45644936], [45717877, 45718020], [45725723, 45725807], [45771697, 45771788]]
ENST00000475856 [[45717877, 45718020], [45724452, 45724719]] None
NM_172110 [[45523262, 45523626], [45618639, 45618758], [45630066, 45630112], [45633580, 45633723], [45644819, 45644936], [45700823, 45700891], [45702796, 45702974], [45717877, 45718020], [45725723, 45725807], [45771697, 45771787], [45797786, 45797845], [45801354, 45801515], [45811938, 45812039], [45816700, 45817492]] [[45618649, 45618758], [45630066, 45630112], [45633580, 45633723], [45644819, 45644936], [45700823, 45700891], [45702796, 45702974], [45717877, 45718020], [45725723, 45725807], [45771697, 45771787], [45797786, 45797845], [45801354, 45801515], [45811938, 45812039], [45816700, 45816781]]
NM_005244 [[45523262, 45523626], [45618639, 45618758], [45630066, 45630112], [45633580, 45633723], [45644819, 45644936], [45700823, 45700891], [45702796, 45702974], [45717877, 45718020], [45725723, 45725807], [45771697, 45771787], [45797786, 45797845], [45801354, 45801515], [45808445, 45808560], [45809462, 45809584], [45811938, 45812039], [45816700, 45817492]] [[45618649, 45618758], [45630066, 45630112], [45633580, 45633723], [45644819, 45644936], [45700823, 45700891], [45702796, 45702974], [45717877, 45718020], [45725723, 45725807], [45771697, 45771787], [45797786, 45797845], [45801354, 45801515], [45808445, 45808560], [45809462, 45809584], [45811938, 45812039], [45816700, 45816781]]
Promoter
Chrom Start End Description
chr20 45523140 45523148 CAGE_peak_8_at_EYA2_5end
chr20 45523227 45523293 CAGE_peak_2_at_EYA2_5end
chr20 45523309 45523323 CAGE_peak_4_at_EYA2_5end
chr20 45523452 45523459 CAGE_peak_5_at_EYA2_5end
chr20 45523463 45523535 CAGE_peak_1_at_EYA2_5end
chr20 45523539 45523563 CAGE_peak_3_at_EYA2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr20 GH20I047485 47485931 47490548 1.54 [{'connected_gene': 'NCOA3', 'score': 16.6}, {'connected_gene': 'EYA2', 'score': 5.37}, {'connected_gene': 'ZMYND8', 'score': 4.63}, {'connected_gene': 'GC20M047485', 'score': 0.77}, {'connected_gene': 'RNU6-497P', 'score': 0.77}, {'connected_gene': 'GC20M047490', 'score': 0.77}]
chr20 GH20I047143 47142982 47143131 0.79 [{'connected_gene': 'NCOA3', 'score': 11.75}, {'connected_gene': 'LOC100419565', 'score': 11.22}, {'connected_gene': 'SLC35C2', 'score': 10.41}, {'connected_gene': 'PIR60213', 'score': 0.39}, {'connected_gene': 'ENSG00000239783', 'score': 0.19}, {'connected_gene': 'EYA2', 'score': 0.07}]
chr20 GH20I046971 46971322 46971531 1.07 [{'connected_gene': 'NCOA5', 'score': 39.34}, {'connected_gene': 'ZNF335', 'score': 13.29}, {'connected_gene': 'CD40', 'score': 11.72}, {'connected_gene': 'TP53RK', 'score': 10.59}, {'connected_gene': 'SLC35C2', 'score': 10.42}, {'connected_gene': 'LOC100131496', 'score': 10.31}, {'connected_gene': 'GC20P046944', 'score': 0.31}, {'connected_gene': 'GAPDHP54', 'score': 0.31}, {'connected_gene': 'EYA2', 'score': 0.18}]
chr20 GH20I047564 47564801 47565935 1.07 [{'connected_gene': 'EYA2', 'score': 4.98}, {'connected_gene': 'GC20M047582', 'score': 0.34}, {'connected_gene': 'NCOA3', 'score': 0.21}]
chr20 GH20I046894 46894567 46896068 1.77 [{'connected_gene': 'EYA2', 'score': 556.24}, {'connected_gene': 'ZNF334', 'score': 9.8}, {'connected_gene': 'LOC101927355', 'score': 0.44}]
chr20 GH20I046837 46837951 46838713 0.2 [{'connected_gene': 'EYA2', 'score': 4.85}, {'connected_gene': 'RN7SKP33', 'score': 0.34}, {'connected_gene': 'GC20P046790', 'score': 0.25}]
chr20 GH20I046849 46849823 46851269 0.43 [{'connected_gene': 'EYA2', 'score': 5.27}, {'connected_gene': 'RN7SKP33', 'score': 0.44}, {'connected_gene': 'GC20P046790', 'score': 0.22}]
chr20 GH20I046822 46822572 46824422 0.63 [{'connected_gene': 'EYA2', 'score': 5.58}, {'connected_gene': 'GC20P046790', 'score': 0.29}, {'connected_gene': 'RN7SKP33', 'score': 0.28}]
chr20 GH20I046820 46820107 46822082 0.49 [{'connected_gene': 'EYA2', 'score': 19.14}, {'connected_gene': 'GC20P046790', 'score': 0.29}, {'connected_gene': 'RN7SKP33', 'score': 0.28}]
chr20 GH20I046931 46931516 46932324 0.31 [{'connected_gene': 'EYA2', 'score': 28.49}, {'connected_gene': 'GC20P046944', 'score': 0.39}, {'connected_gene': 'LOC101927355', 'score': 0.29}]
chr20 GH20I046914 46914756 46916061 0.2 [{'connected_gene': 'EYA2', 'score': 7.06}, {'connected_gene': 'LOC101927355', 'score': 0.39}, {'connected_gene': 'GC20P046944', 'score': 0.31}]
chr20 GH20I046928 46928702 46929001 0.74 [{'connected_gene': 'EYA2', 'score': 20.47}, {'connected_gene': 'GC20P046944', 'score': 0.37}, {'connected_gene': 'LOC101927355', 'score': 0.31}]
chr20 GH20I046899 46899148 46900575 0.31 [{'connected_gene': 'EYA2', 'score': 11.96}, {'connected_gene': 'LOC101927355', 'score': 0.77}]
chr20 GH20I046965 46965682 46965831 0.87 [{'connected_gene': 'EYA2', 'score': 12.86}, {'connected_gene': 'GC20P046944', 'score': 0.34}, {'connected_gene': 'GAPDHP54', 'score': 0.29}]
chr20 GH20I046992 46992372 46993127 0.76 [{'connected_gene': 'EYA2', 'score': 4.57}, {'connected_gene': 'GAPDHP54', 'score': 0.77}, {'connected_gene': 'GC20P046944', 'score': 0.25}]
chr20 GH20I046973 46973857 46976238 0.38 [{'connected_gene': 'EYA2', 'score': 7.58}, {'connected_gene': 'GAPDHP54', 'score': 0.34}, {'connected_gene': 'GC20P046944', 'score': 0.29}]
chr20 GH20I046986 46986530 46987763 0.38 [{'connected_gene': 'EYA2', 'score': 11.51}, {'connected_gene': 'GAPDHP54', 'score': 0.39}, {'connected_gene': 'GC20P046944', 'score': 0.26}]
chr20 GH20I046953 46953490 46955547 0.97 [{'connected_gene': 'EYA2', 'score': 7.23}, {'connected_gene': 'GC20P046944', 'score': 0.39}, {'connected_gene': 'GAPDHP54', 'score': 0.26}]
chr20 GH20I046958 46958622 46960254 0.9 [{'connected_gene': 'EYA2', 'score': 15.49}, {'connected_gene': 'GC20P046944', 'score': 0.37}, {'connected_gene': 'GAPDHP54', 'score': 0.28}]
chr20 GH20I046948 46948829 46951408 0.38 [{'connected_gene': 'EYA2', 'score': 25.31}, {'connected_gene': 'GC20P046944', 'score': 0.44}, {'connected_gene': 'GAPDHP54', 'score': 0.25}]
chr20 GH20I047158 47158572 47158679 0.61 [{'connected_gene': 'EYA2', 'score': 2.9}, {'connected_gene': 'RPS2P54', 'score': 0.77}, {'connected_gene': 'PIR60213', 'score': 0.77}]
chr20 GH20I047313 47313685 47341677 1.85 [{'connected_gene': 'TP53RK', 'score': 14.76}, {'connected_gene': 'SLC35C2', 'score': 14.16}, {'connected_gene': 'ZMYND8', 'score': 13.72}, {'connected_gene': 'NCOA3', 'score': 10.8}, {'connected_gene': 'RPL35AP', 'score': 10.4}, {'connected_gene': 'RNU6-497P', 'score': 10.4}, {'connected_gene': 'EYA2', 'score': 5.35}, {'connected_gene': 'LOC100131496', 'score': 0.44}, {'connected_gene': 'ENSG00000273451', 'score': 0.34}, {'connected_gene': 'GC20M047326', 'score': 0.29}]
chr20 GH20I046901 46901742 46901891 0.54 [{'connected_gene': 'LOC101927355', 'score': 550.77}, {'connected_gene': 'EYA2', 'score': 12.48}]
chr20 GH20I046900 46900865 46901735 0.57 [{'connected_gene': 'LOC101927355', 'score': 550.77}, {'connected_gene': 'EYA2', 'score': 7.88}]
chr20 GH20I046905 46905462 46905611 0.2 [{'connected_gene': 'LOC101927355', 'score': 0.77}, {'connected_gene': 'EYA2', 'score': 0.39}, {'connected_gene': 'GC20P046944', 'score': 0.28}]
chr20 GH20I047174 47174653 47174802 0.2 [{'connected_gene': 'MIR3616', 'score': 0.44}, {'connected_gene': 'GC20P047165', 'score': 0.44}, {'connected_gene': 'GC20M047253', 'score': 0.18}, {'connected_gene': 'EYA2', 'score': 0.06}]
chr20 GH20I047181 47181102 47182062 1.1 [{'connected_gene': 'MIR3616', 'score': 0.39}, {'connected_gene': 'GC20P047165', 'score': 0.37}, {'connected_gene': 'GC20M047253', 'score': 0.18}, {'connected_gene': 'EYA2', 'score': 0.06}]
chr20 GH20I046996 46996661 46999600 0.59 [{'connected_gene': 'GAPDHP54', 'score': 550.77}, {'connected_gene': 'EYA2', 'score': 10.49}, {'connected_gene': 'CDH22', 'score': 4.41}, {'connected_gene': 'ENSG00000239783', 'score': 0.19}]
chr20 GH20I047024 47024387 47025391 0.2 [{'connected_gene': 'GAPDHP54', 'score': 0.31}, {'connected_gene': 'ENSG00000239783', 'score': 0.25}, {'connected_gene': 'EYA2', 'score': 0.12}]
chr20 GH20I047020 47020294 47020843 0.38 [{'connected_gene': 'GAPDHP54', 'score': 0.34}, {'connected_gene': 'ENSG00000239783', 'score': 0.23}, {'connected_gene': 'EYA2', 'score': 0.13}]
chr20 GH20I047035 47035402 47035551 0.2 [{'connected_gene': 'GAPDHP54', 'score': 0.28}, {'connected_gene': 'ENSG00000239783', 'score': 0.28}, {'connected_gene': 'EYA2', 'score': 0.11}]
chr20 GH20I046989 46989993 46991567 1.03 [{'connected_gene': 'GAPDHP54', 'score': 0.44}, {'connected_gene': 'GC20P046944', 'score': 0.25}, {'connected_gene': 'EYA2', 'score': 0.15}]
chr20 GH20I046995 46995181 46996002 0.69 [{'connected_gene': 'GAPDHP54', 'score': 0.77}, {'connected_gene': 'GC20P046944', 'score': 0.23}, {'connected_gene': 'EYA2', 'score': 0.15}]
chr20 GH20I046993 46992067 46992191 0.51 [{'connected_gene': 'GAPDHP54', 'score': 0.44}, {'connected_gene': 'GC20P046944', 'score': 0.25}, {'connected_gene': 'EYA2', 'score': 0.15}]
chr20 GH20I047033 47033022 47033171 0.82 [{'connected_gene': 'GAPDHP54', 'score': 0.28}, {'connected_gene': 'ENSG00000239783', 'score': 0.28}, {'connected_gene': 'EYA2', 'score': 0.12}]
chr20 GH20I047018 47018925 47019987 0.49 [{'connected_gene': 'GAPDHP54', 'score': 0.34}, {'connected_gene': 'ENSG00000239783', 'score': 0.23}, {'connected_gene': 'EYA2', 'score': 0.13}]
chr20 GH20I047031 47031902 47032051 0.2 [{'connected_gene': 'GAPDHP54', 'score': 0.29}, {'connected_gene': 'ENSG00000239783', 'score': 0.28}, {'connected_gene': 'EYA2', 'score': 0.12}]
chr20 GH20I046982 46982001 46986281 0.52 [{'connected_gene': 'GAPDHP54', 'score': 0.39}, {'connected_gene': 'GC20P046944', 'score': 0.28}, {'connected_gene': 'EYA2', 'score': 0.17}]
chr20 GH20I047007 47007635 47009435 0.74 [{'connected_gene': 'GAPDHP54', 'score': 0.39}, {'connected_gene': 'ENSG00000239783', 'score': 0.21}, {'connected_gene': 'EYA2', 'score': 0.14}]
chr20 GH20I046994 46994601 46994800 0.86 [{'connected_gene': 'GAPDHP54', 'score': 0.77}, {'connected_gene': 'GC20P046944', 'score': 0.23}, {'connected_gene': 'EYA2', 'score': 0.15}]
chr20 GH20I046978 46978543 46980045 0.77 [{'connected_gene': 'GAPDHP54', 'score': 0.37}, {'connected_gene': 'GC20P046944', 'score': 0.28}, {'connected_gene': 'EYA2', 'score': 0.18}]
chr20 GH20I047466 47466247 47469959 1.28 [{'connected_gene': 'GC20M047463', 'score': 550.77}, {'connected_gene': 'NCOA3', 'score': 11.23}, {'connected_gene': 'EYA2', 'score': 5.81}, {'connected_gene': 'GC20P047451', 'score': 0.37}]
chr20 GH20I047495 47495751 47496658 0.43 [{'connected_gene': 'GC20P047497', 'score': 550.77}, {'connected_gene': 'GC20P047495', 'score': 550.77}, {'connected_gene': 'NCOA3', 'score': 16.07}, {'connected_gene': 'EYA2', 'score': 5.65}]
chr20 GH20I046945 46945066 46946600 0.65 [{'connected_gene': 'GC20P046944', 'score': 550.77}, {'connected_gene': 'EYA2', 'score': 22.63}, {'connected_gene': 'GAPDHP54', 'score': 0.23}]
chr20 GH20I047144 47143802 47143951 0.2 [{'connected_gene': 'PIR60213', 'score': 0.39}, {'connected_gene': 'ENSG00000239783', 'score': 0.19}, {'connected_gene': 'EYA2', 'score': 0.07}]
chr20 GH20I047139 47139860 47140757 0.74 [{'connected_gene': 'PIR60213', 'score': 0.39}, {'connected_gene': 'ENSG00000239783', 'score': 0.2}, {'connected_gene': 'EYA2', 'score': 0.07}]
chr20 GH20I047150 47150742 47150911 0.95 [{'connected_gene': 'PIR60213', 'score': 0.77}, {'connected_gene': 'ENSG00000239783', 'score': 0.18}, {'connected_gene': 'EYA2', 'score': 0.07}]
chr20 GH20I047141 47141822 47141971 0.83 [{'connected_gene': 'PIR60213', 'score': 0.39}, {'connected_gene': 'ENSG00000239783', 'score': 0.19}, {'connected_gene': 'EYA2', 'score': 0.07}]
chr20 GH20I047113 47113330 47114354 0.52 [{'connected_gene': 'PIR60213', 'score': 0.26}, {'connected_gene': 'ENSG00000239783', 'score': 0.26}, {'connected_gene': 'EYA2', 'score': 0.08}]
chr20 GH20I047146 47146615 47147469 0.77 [{'connected_gene': 'PIR60213', 'score': 0.44}, {'connected_gene': 'ENSG00000239783', 'score': 0.18}, {'connected_gene': 'EYA2', 'score': 0.07}]
chr20 GH20I047142 47142082 47142231 0.89 [{'connected_gene': 'PIR60213', 'score': 0.39}, {'connected_gene': 'ENSG00000239783', 'score': 0.19}, {'connected_gene': 'EYA2', 'score': 0.07}]
chr20 GH20I047123 47123802 47128475 1.34 [{'connected_gene': 'PIR60213', 'score': 0.31}, {'connected_gene': 'ENSG00000239783', 'score': 0.23}, {'connected_gene': 'EYA2', 'score': 0.07}]
chr20 GH20I047137 47137165 47137858 0.31 [{'connected_gene': 'PIR60213', 'score': 0.37}, {'connected_gene': 'ENSG00000239783', 'score': 0.2}, {'connected_gene': 'EYA2', 'score': 0.07}]
chr20 GH20I047133 47133942 47134091 0.63 [{'connected_gene': 'PIR60213', 'score': 0.34}, {'connected_gene': 'ENSG00000239783', 'score': 0.21}, {'connected_gene': 'EYA2', 'score': 0.07}]
chr20 GH20I047117 47117188 47119468 0.74 [{'connected_gene': 'PIR60213', 'score': 0.28}, {'connected_gene': 'ENSG00000239783', 'score': 0.25}, {'connected_gene': 'EYA2', 'score': 0.07}]
chr20 GH20I047138 47138702 47139537 0.2 [{'connected_gene': 'PIR60213', 'score': 0.37}, {'connected_gene': 'ENSG00000239783', 'score': 0.2}, {'connected_gene': 'EYA2', 'score': 0.07}]
chr20 GH20I047063 47063642 47063751 0.31 [{'connected_gene': 'ENSG00000239783', 'score': 0.44}, {'connected_gene': 'GAPDHP54', 'score': 0.2}, {'connected_gene': 'EYA2', 'score': 0.1}]
chr20 GH20I046964 46964422 46964571 0.58 [{'connected_gene': 'GC20P046944', 'score': 0.34}, {'connected_gene': 'GAPDHP54', 'score': 0.29}, {'connected_gene': 'EYA2', 'score': 0.2}]
chr20 GH20I046966 46964062 46964211 0.58 [{'connected_gene': 'GC20P046944', 'score': 0.37}, {'connected_gene': 'GAPDHP54', 'score': 0.29}, {'connected_gene': 'EYA2', 'score': 0.2}]
chr20 GH20I047066 47066673 47067630 0.49 [{'connected_gene': 'ENSG00000239783', 'score': 0.77}, {'connected_gene': 'GAPDHP54', 'score': 0.2}, {'connected_gene': 'EYA2', 'score': 0.09}]

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