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
ENST00000199447 [[37888198, 37888330], [37888425, 37888658], [37889861, 37889901], [37889979, 37890037], [37890230, 37890337], [37896875, 37896947], [37901629, 37901746], [37902997, 37903064], [37903949, 37904023], [37905126, 37905219], [37907303, 37907500], [37916433, 37916609], [37923904, 37924049], [37924746, 37924854], [37927878, 37928030], [37934067, 37934212], [37936471, 37936709], [37939845, 37940003]] [[37889868, 37889901], [37889979, 37890037], [37890230, 37890337], [37896875, 37896947], [37901629, 37901746], [37902997, 37903064], [37903949, 37904023], [37905126, 37905219], [37907303, 37907500], [37916433, 37916609], [37923904, 37924049], [37924746, 37924854], [37927878, 37928030], [37934067, 37934212], [37936471, 37936694]]
ENST00000455500 [[37888211, 37888330], [37889861, 37889901], [37896875, 37896947], [37901629, 37901746], [37902997, 37903064], [37903949, 37904007]] [[37889868, 37889901], [37896875, 37896947], [37901629, 37901746], [37902997, 37903064], [37903949, 37904007]]
ENST00000444718 [[37888554, 37888658], [37889861, 37889901], [37896875, 37896947], [37901629, 37901746], [37902997, 37903064], [37903949, 37904023], [37905126, 37905213]] [[37889868, 37889901], [37896875, 37896947], [37901629, 37901746], [37902997, 37903064], [37903949, 37904023], [37905126, 37905213]]
ENST00000440017 [[37888620, 37888725], [37889861, 37889901], [37889979, 37890037], [37890230, 37890337], [37896875, 37896947], [37901629, 37901746], [37902997, 37903064], [37903949, 37904023], [37905126, 37905219], [37907303, 37907500], [37916433, 37916609], [37923904, 37924049], [37924746, 37924854], [37927878, 37928030], [37934067, 37934212], [37936471, 37936694]] [[37889868, 37889901], [37889979, 37890037], [37890230, 37890337], [37896875, 37896947], [37901629, 37901746], [37902997, 37903064], [37903949, 37904023], [37905126, 37905219], [37907303, 37907500], [37916433, 37916609], [37923904, 37924049], [37924746, 37924854], [37927878, 37928030], [37934067, 37934212], [37936471, 37936694]]
ENST00000426106 [[37889854, 37889901], [37896875, 37896947], [37923904, 37924049], [37924746, 37924854], [37927878, 37928001]] [[37889868, 37889901], [37896875, 37896947], [37923904, 37923964]]
ENST00000476435 [[37936418, 37936709], [37939845, 37939996]] None
NM_016616 [[37888198, 37888330], [37888425, 37888658], [37889861, 37889901], [37889979, 37890037], [37890230, 37890337], [37896875, 37896947], [37901629, 37901746], [37902997, 37903064], [37903949, 37904023], [37905126, 37905219], [37907303, 37907500], [37916433, 37916609], [37923904, 37924049], [37924746, 37924854], [37927878, 37928030], [37934067, 37934212], [37936471, 37936709], [37939845, 37940003]] [[37889868, 37889901], [37889979, 37890037], [37890230, 37890337], [37896875, 37896947], [37901629, 37901746], [37902997, 37903064], [37903949, 37904023], [37905126, 37905219], [37907303, 37907500], [37916433, 37916609], [37923904, 37924049], [37924746, 37924854], [37927878, 37928030], [37934067, 37934212], [37936471, 37936694]]
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr7 GH07I037693 37693401 37695807 1.09 [{'connected_gene': 'ELMO1', 'score': 9.84}, {'connected_gene': 'NME8', 'score': 8.02}, {'connected_gene': 'GPR141', 'score': 0.39}, {'connected_gene': 'EPDR1', 'score': 0.39}, {'connected_gene': 'LOC100420413', 'score': 0.15}]
chr7 GH07I037690 37689001 37692109 1.02 [{'connected_gene': 'STARD3NL', 'score': 8.52}, {'connected_gene': 'NME8', 'score': 8.02}, {'connected_gene': 'GPR141', 'score': 4.94}, {'connected_gene': 'ELMO1', 'score': 2.14}, {'connected_gene': 'EPDR1', 'score': 0.44}, {'connected_gene': 'LOC100420413', 'score': 0.14}]
chr7 GH07I037974 37974099 37974248 0.83 [{'connected_gene': 'SFRP4', 'score': 10.8}, {'connected_gene': 'STARD3NL', 'score': 9.55}, {'connected_gene': 'EPDR1', 'score': 8.06}, {'connected_gene': 'LOC105375236', 'score': 0.31}, {'connected_gene': 'NME8', 'score': 0.13}]
chr7 GH07I037941 37941494 37945790 1.18 [{'connected_gene': 'SFRP4', 'score': 15.6}, {'connected_gene': 'EPDR1', 'score': 9.27}, {'connected_gene': 'TRGC1', 'score': 5.25}, {'connected_gene': 'LOC105375236', 'score': 0.22}, {'connected_gene': 'NME8', 'score': 0.15}]
chr7 GH07I037915 37915857 37917828 1.87 [{'connected_gene': 'SFRP4', 'score': 550.14}, {'connected_gene': 'EPDR1', 'score': 12.09}, {'connected_gene': 'NME8', 'score': 0.2}, {'connected_gene': 'LOC105375236', 'score': 0.17}]
chr7 GH07I037902 37901623 37902928 0.96 [{'connected_gene': 'SFRP4', 'score': 19.25}, {'connected_gene': 'EPDR1', 'score': 14.97}, {'connected_gene': 'NME8', 'score': 0.23}, {'connected_gene': 'LOC105375236', 'score': 0.15}]
chr7 GH07I037928 37928501 37931270 0.58 [{'connected_gene': 'SFRP4', 'score': 16.22}, {'connected_gene': 'EPDR1', 'score': 15.16}, {'connected_gene': 'LOC105375236', 'score': 0.19}, {'connected_gene': 'NME8', 'score': 0.18}]
chr7 GH07I037999 37999188 38001158 0.4 [{'connected_gene': 'SFRP4', 'score': 12.13}, {'connected_gene': 'EPDR1', 'score': 8.84}, {'connected_gene': 'LOC105375236', 'score': 0.77}, {'connected_gene': 'NME8', 'score': 0.1}]
chr7 GH07I037988 37988779 37988948 0.4 [{'connected_gene': 'SFRP4', 'score': 11.24}, {'connected_gene': 'EPDR1', 'score': 8.85}, {'connected_gene': 'LOC105375236', 'score': 0.39}, {'connected_gene': 'NME8', 'score': 0.11}]
chr7 GH07I037923 37923993 37925632 0.2 [{'connected_gene': 'SFRP4', 'score': 16.18}, {'connected_gene': 'EPDR1', 'score': 14.97}, {'connected_gene': 'LOC105375236', 'score': 0.18}, {'connected_gene': 'NME8', 'score': 0.18}]
chr7 GH07I037932 37932619 37933929 0.2 [{'connected_gene': 'SFRP4', 'score': 10.72}, {'connected_gene': 'EPDR1', 'score': 8.89}, {'connected_gene': 'LOC105375236', 'score': 0.2}, {'connected_gene': 'NME8', 'score': 0.18}]
chr7 GH07I037986 37986095 37988721 0.94 [{'connected_gene': 'SFRP4', 'score': 11.24}, {'connected_gene': 'EPDR1', 'score': 8.28}, {'connected_gene': 'LOC105375236', 'score': 0.37}, {'connected_gene': 'NME8', 'score': 0.12}]
chr7 GH07I037981 37981593 37983418 0.38 [{'connected_gene': 'SFRP4', 'score': 11.08}, {'connected_gene': 'EPDR1', 'score': 8.03}, {'connected_gene': 'LOC105375236', 'score': 0.34}, {'connected_gene': 'NME8', 'score': 0.12}]
chr7 GH07I037907 37907539 37909002 0.2 [{'connected_gene': 'EPDR1', 'score': 25.06}, {'connected_gene': 'SFRP4', 'score': 9.02}, {'connected_gene': 'NME8', 'score': 0.22}, {'connected_gene': 'LOC105375236', 'score': 0.16}]
chr7 GH07I037901 37901401 37901600 0.84 [{'connected_gene': 'EPDR1', 'score': 14.46}, {'connected_gene': 'SFRP4', 'score': 10.51}, {'connected_gene': 'NME8', 'score': 0.23}, {'connected_gene': 'LOC105375236', 'score': 0.15}]
chr7 GH07I037663 37663193 37664400 0.86 [{'connected_gene': 'EPDR1', 'score': 11.97}, {'connected_gene': 'NME8', 'score': 6.13}, {'connected_gene': 'GPR141', 'score': 0.37}, {'connected_gene': 'NECAP1P1', 'score': 0.18}]
chr7 GH07I037920 37920039 37922785 1.95 [{'connected_gene': 'EPDR1', 'score': 564.01}, {'connected_gene': 'NME8', 'score': 0.19}, {'connected_gene': 'LOC105375236', 'score': 0.18}, {'connected_gene': 'SFRP4', 'score': 0.15}]
chr7 GH07I037701 37701601 37702200 0.58 [{'connected_gene': 'NME8', 'score': 7.51}, {'connected_gene': 'GPR141', 'score': 0.37}, {'connected_gene': 'EPDR1', 'score': 0.37}, {'connected_gene': 'LOC100420413', 'score': 0.16}]
chr7 GH07I037703 37703001 37703600 0.4 [{'connected_gene': 'NME8', 'score': 7.26}, {'connected_gene': 'GPR141', 'score': 0.37}, {'connected_gene': 'EPDR1', 'score': 0.37}, {'connected_gene': 'LOC100420413', 'score': 0.16}]
chr7 GH07I037659 37659054 37660898 0.52 [{'connected_gene': 'NME8', 'score': 6.89}, {'connected_gene': 'GPR141', 'score': 0.34}, {'connected_gene': 'NECAP1P1', 'score': 0.19}]
chr7 GH07I037661 37661463 37661987 0.38 [{'connected_gene': 'NME8', 'score': 7.01}, {'connected_gene': 'GPR141', 'score': 0.34}, {'connected_gene': 'NECAP1P1', 'score': 0.18}]
chr7 GH07I037671 37670988 37672756 0.2 [{'connected_gene': 'NME8', 'score': 6.94}, {'connected_gene': 'GPR141', 'score': 0.39}, {'connected_gene': 'NECAP1P1', 'score': 0.17}]
chr7 GH07I037664 37664602 37667674 1.29 [{'connected_gene': 'NME8', 'score': 12.83}, {'connected_gene': 'GPR141', 'score': 3.27}, {'connected_gene': 'NECAP1P1', 'score': 0.18}]
chr7 GH07I037916 37915459 37915608 0.65 [{'connected_gene': 'NME8', 'score': 0.2}, {'connected_gene': 'LOC105375236', 'score': 0.17}, {'connected_gene': 'SFRP4', 'score': 0.14}, {'connected_gene': 'EPDR1', 'score': 0.07}]
chr7 GH07I037786 37786449 37787848 0.97 [{'connected_gene': 'NME8', 'score': 8.09}, {'connected_gene': 'LOC100420413', 'score': 0.44}, {'connected_gene': 'GPR141', 'score': 0.15}, {'connected_gene': 'EPDR1', 'score': 0.15}]
chr7 GH07I037736 37736301 37736421 0.22 [{'connected_gene': 'GPR141', 'score': 14.72}, {'connected_gene': 'ELMO1', 'score': 13.25}, {'connected_gene': 'EPDR1', 'score': 10.85}, {'connected_gene': 'NME8', 'score': 1.32}, {'connected_gene': 'LOC100420413', 'score': 0.22}]
chr7 GH07I037682 37682565 37687800 1.39 [{'connected_gene': 'GPR141', 'score': 555.04}, {'connected_gene': 'EPDR1', 'score': 550.77}, {'connected_gene': 'ENSG00000201566', 'score': 9.52}, {'connected_gene': 'ENSG00000200113', 'score': 9.51}, {'connected_gene': 'NME8', 'score': 7.23}, {'connected_gene': 'STARD3NL', 'score': 6.84}, {'connected_gene': 'ELMO1', 'score': 6.84}, {'connected_gene': 'LOC100420413', 'score': 0.14}]
chr7 GH07I037643 37643458 37644368 0.51 [{'connected_gene': 'GPR141', 'score': 11.78}, {'connected_gene': 'EPDR1', 'score': 11.78}, {'connected_gene': 'NME8', 'score': 6.06}, {'connected_gene': 'NECAP1P1', 'score': 0.22}]
chr7 GH07I037645 37645201 37646056 0.4 [{'connected_gene': 'GPR141', 'score': 11.78}, {'connected_gene': 'EPDR1', 'score': 11.78}, {'connected_gene': 'NME8', 'score': 7.77}, {'connected_gene': 'NECAP1P1', 'score': 0.22}]
chr7 GH07I037706 37706001 37706200 0.69 [{'connected_gene': 'GPR141', 'score': 12.08}, {'connected_gene': 'EPDR1', 'score': 12.08}, {'connected_gene': 'NME8', 'score': 6.31}, {'connected_gene': 'LOC100420413', 'score': 0.17}]
chr7 GH07I037709 37709296 37716171 0.74 [{'connected_gene': 'GPR141', 'score': 12.06}, {'connected_gene': 'EPDR1', 'score': 12.06}, {'connected_gene': 'ENSG00000201566', 'score': 10.53}, {'connected_gene': 'ENSG00000200113', 'score': 10.53}, {'connected_gene': 'NME8', 'score': 7.2}, {'connected_gene': 'LOC100420413', 'score': 0.18}]
chr7 GH07I037728 37728514 37729748 1.07 [{'connected_gene': 'GPR141', 'score': 11.13}, {'connected_gene': 'EPDR1', 'score': 11.13}, {'connected_gene': 'NME8', 'score': 5.39}, {'connected_gene': 'LOC100420413', 'score': 0.2}]
chr7 GH07I037723 37723053 37726591 0.38 [{'connected_gene': 'GPR141', 'score': 11.38}, {'connected_gene': 'EPDR1', 'score': 11.38}, {'connected_gene': 'ENSG00000201566', 'score': 10.09}, {'connected_gene': 'ENSG00000200113', 'score': 10.09}, {'connected_gene': 'NME8', 'score': 5.32}, {'connected_gene': 'LOC100420413', 'score': 0.19}]
chr7 GH07I037732 37732001 37732800 1.11 [{'connected_gene': 'GPR141', 'score': 11.19}, {'connected_gene': 'EPDR1', 'score': 11.19}, {'connected_gene': 'NME8', 'score': 5.03}, {'connected_gene': 'LOC100420413', 'score': 0.21}]
chr7 GH07I038002 38002546 38003422 0.4 [{'connected_gene': 'LOC105375236', 'score': 550.77}, {'connected_gene': 'SFRP4', 'score': 0.34}, {'connected_gene': 'NME8', 'score': 0.1}]
chr7 GH07I037832 37832279 37832600 0.84 [{'connected_gene': 'GC07M037823', 'score': 550.77}, {'connected_gene': 'ENSG00000201566', 'score': 10.27}, {'connected_gene': 'ENSG00000200113', 'score': 10.27}, {'connected_gene': 'ELMO1', 'score': 10.2}, {'connected_gene': 'NME8', 'score': 0.37}, {'connected_gene': 'GPR141', 'score': 0.11}, {'connected_gene': 'EPDR1', 'score': 0.11}]
chr7 GH07I037833 37833201 37833808 0.87 [{'connected_gene': 'ENSG00000201566', 'score': 10.27}, {'connected_gene': 'ENSG00000200113', 'score': 10.27}, {'connected_gene': 'ELMO1', 'score': 10.2}, {'connected_gene': 'NME8', 'score': 8.73}, {'connected_gene': 'GC07M037823', 'score': 0.77}, {'connected_gene': 'GPR141', 'score': 0.11}, {'connected_gene': 'EPDR1', 'score': 0.11}]

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