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
ENST00000401035 [[78354197, 78354444], [78381739, 78381818], [78383644, 78383723], [78383809, 78383958], [78390872, 78390914], [78392098, 78392296], [78392400, 78392577], [78395000, 78395189], [78398966, 78399069]] [[78381791, 78381818], [78383644, 78383723], [78383809, 78383958], [78390872, 78390914], [78392098, 78392296], [78392400, 78392577], [78395000, 78395189], [78398966, 78399069]]
ENST00000457030 [[78354199, 78354444], [78381739, 78381818], [78383250, 78383442], [78383644, 78383723], [78383809, 78383958], [78392098, 78392296], [78392400, 78392577], [78395000, 78395189], [78398966, 78399164], [78401507, 78401729], [78407707, 78407893], [78408145, 78408503], [78408584, 78408598]] [[78381791, 78381818], [78383250, 78383442], [78383644, 78383723], [78383809, 78383958], [78392098, 78392296], [78392400, 78392577], [78395000, 78395189], [78398966, 78399164], [78401507, 78401729], [78407707, 78407893], [78408145, 78408503], [78408584, 78408598]]
ENST00000330010 [[78354199, 78354444], [78381739, 78381818], [78383644, 78383723], [78383809, 78383958], [78390872, 78390914], [78392098, 78392296], [78392400, 78392577], [78395000, 78395189], [78398966, 78399164], [78401507, 78401729], [78407707, 78407893], [78408145, 78409576]] [[78381791, 78381818], [78383644, 78383723], [78383809, 78383958], [78390872, 78390914], [78392098, 78392296], [78392400, 78392577], [78395000, 78395189], [78398966, 78399164], [78401507, 78401729], [78407707, 78407893], [78408145, 78408514]]
ENST00000294624 [[78354289, 78354444], [78381739, 78381818], [78383250, 78383442], [78383644, 78383723], [78383809, 78383958], [78389894, 78390082]] [[78381791, 78381818], [78383250, 78383442], [78383644, 78383723], [78383809, 78383958], [78389894, 78389927]]
ENST00000334785 [[78354312, 78354444], [78381739, 78381818], [78383250, 78383442], [78383644, 78383723], [78383809, 78383958], [78390872, 78390914], [78392098, 78392296], [78392400, 78392577], [78395000, 78395189], [78398966, 78399164], [78401507, 78401729], [78407707, 78407893], [78408145, 78408909]] [[78381791, 78381818], [78383250, 78383442], [78383644, 78383723], [78383809, 78383958], [78390872, 78390914], [78392098, 78392296], [78392400, 78392577], [78395000, 78395189], [78398966, 78399164], [78401507, 78401729], [78407707, 78407893], [78408145, 78408514]]
ENST00000440324 [[78354346, 78354444], [78381739, 78381818], [78383250, 78383442], [78383644, 78383723], [78383809, 78383958], [78392098, 78392296], [78392400, 78392577], [78395000, 78395189], [78398966, 78399164], [78401507, 78401604]] [[78381791, 78381818], [78383250, 78383442], [78383644, 78383723], [78383809, 78383958], [78392098, 78392296], [78392400, 78392577], [78395000, 78395189], [78398966, 78399164], [78401507, 78401604]]
ENST00000342754 [[78383812, 78383958], [78390872, 78390914], [78392098, 78392296], [78392400, 78392577], [78395000, 78395189], [78398966, 78399164], [78401507, 78401729], [78407707, 78407893], [78408145, 78408503], [78408584, 78409580]] [[78383812, 78383958], [78390872, 78390914], [78392098, 78392296], [78392400, 78392577], [78395000, 78395189], [78398966, 78399164], [78401507, 78401729], [78407707, 78407893], [78408145, 78408503], [78408584, 78408598]]
ENST00000464998 [[78392253, 78392577], [78395000, 78395189], [78398966, 78399164], [78401507, 78401655]] None
ENST00000480732 [[78397346, 78397739], [78398732, 78399164], [78401507, 78401729], [78407707, 78407893], [78408145, 78408884]] None
ENST00000470735 [[78407395, 78407893], [78408145, 78408438]] None
NM_001172309 [[78354199, 78354444], [78381739, 78381818], [78383644, 78383723], [78383809, 78383958], [78390872, 78390914], [78392098, 78392296], [78392400, 78392577], [78395000, 78395189], [78398966, 78399164], [78401507, 78401729], [78407707, 78407893], [78408145, 78409580]] [[78381791, 78381818], [78383644, 78383723], [78383809, 78383958], [78390872, 78390914], [78392098, 78392296], [78392400, 78392577], [78395000, 78395189], [78398966, 78399164], [78401507, 78401729], [78407707, 78407893], [78408145, 78408514]]
NM_144573 [[78354199, 78354444], [78381739, 78381818], [78383250, 78383442], [78383644, 78383723], [78383809, 78383958], [78390872, 78390914], [78392098, 78392296], [78392400, 78392577], [78395000, 78395189], [78398966, 78399164], [78401507, 78401729], [78407707, 78407893], [78408145, 78409580]] [[78381791, 78381818], [78383250, 78383442], [78383644, 78383723], [78383809, 78383958], [78390872, 78390914], [78392098, 78392296], [78392400, 78392577], [78395000, 78395189], [78398966, 78399164], [78401507, 78401729], [78407707, 78407893], [78408145, 78408514]]
Promoter
Chrom Start End Description
chr1 78353898 78353908 CAGE_peak_24_at_NEXN_5end
chr1 78353949 78353981 CAGE_peak_8_at_NEXN_5end
chr1 78354175 78354234 CAGE_peak_4_at_NEXN_5end
chr1 78354243 78354293 CAGE_peak_2_at_NEXN_5end
chr1 78354297 78354320 CAGE_peak_1_at_NEXN_5end
chr1 78354330 78354366 CAGE_peak_3_at_NEXN_5end
chr1 78383264 78383274 CAGE_peak_31_at_NEXN_5end
chr1 78383304 78383326 CAGE_peak_13_at_NEXN_5end
chr1 78383815 78383829 CAGE_peak_12_at_NEXN_5end
chr1 78392094 78392114 CAGE_peak_5_at_NEXN_5end
chr1 78392475 78392503 CAGE_peak_9_at_NEXN_5end
chr1 78392508 78392544 CAGE_peak_7_at_NEXN_5end
chr1 78398956 78398980 CAGE_peak_6_at_NEXN_5end
chr1 78398986 78399002 CAGE_peak_10_at_NEXN_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I077916 77916007 77916066 0.5 [{'connected_gene': 'NEXN', 'score': 550.31}, {'connected_gene': 'NEXN-AS1', 'score': 0.31}, {'connected_gene': 'DNAJB4', 'score': 0.21}]
chr1 GH01I078238 78238002 78238158 0.34 [{'connected_gene': 'NEXN', 'score': 1.44}, {'connected_gene': 'PIR53489', 'score': 0.77}, {'connected_gene': 'MGC27382', 'score': 0.44}, {'connected_gene': 'GC01P078185', 'score': 0.23}, {'connected_gene': 'PTGFR', 'score': 0.2}]
chr1 GH01I077965 77965998 77967380 0.31 [{'connected_gene': 'NEXN', 'score': 5.54}, {'connected_gene': 'DNAJB4', 'score': 0.39}, {'connected_gene': 'FUBP1', 'score': 0.39}, {'connected_gene': 'NEXN-AS1', 'score': 0.18}]
chr1 GH01I078080 78080802 78081199 0.51 [{'connected_gene': 'NEXN', 'score': 4.94}, {'connected_gene': 'RNU6-1102P', 'score': 0.44}, {'connected_gene': 'LOC100131495', 'score': 0.28}, {'connected_gene': 'GIPC2', 'score': 0.15}]
chr1 GH01I078831 78831108 78834646 0.96 [{'connected_gene': 'FUBP1', 'score': 12.87}, {'connected_gene': 'ENSG00000273338', 'score': 12.36}, {'connected_gene': 'NEXN', 'score': 3.98}, {'connected_gene': 'LOC652549', 'score': 0.18}, {'connected_gene': 'GC01M078965', 'score': 0.11}]
chr1 GH01I077975 77975531 77981032 2.3 [{'connected_gene': 'GIPC2', 'score': 558.59}, {'connected_gene': 'DNAJB4', 'score': 550.77}, {'connected_gene': 'FUBP1', 'score': 550.77}, {'connected_gene': 'NSRP1P1', 'score': 16.28}, {'connected_gene': 'ENSG00000273338', 'score': 12.57}, {'connected_gene': 'USP33', 'score': 10.11}, {'connected_gene': 'ZZZ3', 'score': 9.74}, {'connected_gene': 'NEXN', 'score': 6.34}, {'connected_gene': 'NEXN-AS1', 'score': 0.17}]
chr1 GH01I078044 78044499 78048167 2.05 [{'connected_gene': 'GIPC2', 'score': 558.27}, {'connected_gene': 'RNU6-1102P', 'score': 11.9}, {'connected_gene': 'LOC100422537', 'score': 11.88}, {'connected_gene': 'NEXN', 'score': 5.47}, {'connected_gene': 'LOC100131495', 'score': 0.77}]
chr1 GH01I078073 78073196 78077055 0.49 [{'connected_gene': 'GIPC2', 'score': 11.21}, {'connected_gene': 'RNA5SP21', 'score': 9.42}, {'connected_gene': 'MIGA1', 'score': 9.42}, {'connected_gene': 'ACTG1P21', 'score': 9.42}, {'connected_gene': 'NEXN', 'score': 5.24}, {'connected_gene': 'RNU6-1102P', 'score': 0.39}, {'connected_gene': 'LOC100131495', 'score': 0.29}]
chr1 GH01I077926 77926600 77927001 0.86 [{'connected_gene': 'GIPC2', 'score': 11.42}, {'connected_gene': 'RNA5SP21', 'score': 10.76}, {'connected_gene': 'MIGA1', 'score': 10.76}, {'connected_gene': 'ACTG1P21', 'score': 10.75}, {'connected_gene': 'NEXN-AS1', 'score': 0.28}, {'connected_gene': 'NEXN', 'score': 0.28}, {'connected_gene': 'DNAJB4', 'score': 0.23}]
chr1 GH01I077886 77886914 77891885 2.13 [{'connected_gene': 'NEXN-AS1', 'score': 555.96}, {'connected_gene': 'NEXN', 'score': 555.62}, {'connected_gene': 'USP33', 'score': 10.37}, {'connected_gene': 'GIPC2', 'score': 7.97}, {'connected_gene': 'FUBP1', 'score': 6.25}, {'connected_gene': 'IFI44', 'score': 5.11}]
chr1 GH01I077904 77904171 77905371 0.31 [{'connected_gene': 'MIGA1', 'score': 10.12}, {'connected_gene': 'ACTG1P21', 'score': 10.12}, {'connected_gene': 'RNA5SP21', 'score': 10.11}, {'connected_gene': 'ZZZ3', 'score': 9.75}, {'connected_gene': 'GIPC2', 'score': 7.95}, {'connected_gene': 'NEXN', 'score': 7.14}, {'connected_gene': 'NEXN-AS1', 'score': 0.37}, {'connected_gene': 'DNAJB4', 'score': 0.19}]
chr1 GH01I077680 77680898 77684896 2.1 [{'connected_gene': 'ZZZ3', 'score': 575.81}, {'connected_gene': 'FUBP1', 'score': 48.24}, {'connected_gene': 'RPL17P6', 'score': 33.4}, {'connected_gene': 'ENSG00000273338', 'score': 10.64}, {'connected_gene': 'NEXN', 'score': 10.3}, {'connected_gene': 'GIPC2', 'score': 7.92}, {'connected_gene': 'AK5', 'score': 7.31}, {'connected_gene': 'DNAJB4', 'score': 6.49}, {'connected_gene': 'RN7SL370P', 'score': 0.28}]
chr1 GH01I077945 77945486 77945689 0.51 [{'connected_gene': 'ZZZ3', 'score': 9.85}, {'connected_gene': 'DNAJB4', 'score': 0.29}, {'connected_gene': 'FUBP1', 'score': 0.29}, {'connected_gene': 'NEXN-AS1', 'score': 0.22}, {'connected_gene': 'NEXN', 'score': 0.22}]
chr1 GH01I077947 77947335 77947604 0.71 [{'connected_gene': 'ZZZ3', 'score': 9.85}, {'connected_gene': 'DNAJB4', 'score': 0.29}, {'connected_gene': 'FUBP1', 'score': 0.29}, {'connected_gene': 'NEXN-AS1', 'score': 0.22}, {'connected_gene': 'NEXN', 'score': 0.22}]
chr1 GH01I077946 77946449 77946668 0.51 [{'connected_gene': 'ZZZ3', 'score': 9.85}, {'connected_gene': 'DNAJB4', 'score': 0.29}, {'connected_gene': 'FUBP1', 'score': 0.29}, {'connected_gene': 'NEXN-AS1', 'score': 0.22}, {'connected_gene': 'NEXN', 'score': 0.22}]
chr1 GH01I077952 77952257 77953141 0.31 [{'connected_gene': 'ZZZ3', 'score': 10.41}, {'connected_gene': 'ACTG1P21', 'score': 9.62}, {'connected_gene': 'RNA5SP21', 'score': 9.62}, {'connected_gene': 'MIGA1', 'score': 9.62}, {'connected_gene': 'NEXN', 'score': 5.56}, {'connected_gene': 'DNAJB4', 'score': 0.31}, {'connected_gene': 'FUBP1', 'score': 0.31}, {'connected_gene': 'NEXN-AS1', 'score': 0.21}]
chr1 GH01I077959 77959534 77962825 0.38 [{'connected_gene': 'USP33', 'score': 10.6}, {'connected_gene': 'NEXN', 'score': 6.31}, {'connected_gene': 'DNAJB4', 'score': 0.37}, {'connected_gene': 'FUBP1', 'score': 0.37}, {'connected_gene': 'NEXN-AS1', 'score': 0.19}]
chr1 GH01I077958 77958167 77959481 0.49 [{'connected_gene': 'USP33', 'score': 10.6}, {'connected_gene': 'GIPC2', 'score': 7.45}, {'connected_gene': 'NEXN', 'score': 4.47}, {'connected_gene': 'DNAJB4', 'score': 0.34}, {'connected_gene': 'FUBP1', 'score': 0.34}, {'connected_gene': 'NEXN-AS1', 'score': 0.2}]
chr1 GH01I077937 77937885 77939457 0.31 [{'connected_gene': 'USP33', 'score': 11.25}, {'connected_gene': 'RNA5SP21', 'score': 10.9}, {'connected_gene': 'MIGA1', 'score': 10.9}, {'connected_gene': 'ACTG1P21', 'score': 10.89}, {'connected_gene': 'RNU6-1102P', 'score': 10.58}, {'connected_gene': 'LOC100422537', 'score': 10.58}, {'connected_gene': 'NEXN', 'score': 6.19}, {'connected_gene': 'DNAJB4', 'score': 0.26}, {'connected_gene': 'NEXN-AS1', 'score': 0.25}]
chr1 GH01I077948 77948365 77948632 0.6 [{'connected_gene': 'DNAJB4', 'score': 0.29}, {'connected_gene': 'FUBP1', 'score': 0.29}, {'connected_gene': 'NEXN-AS1', 'score': 0.22}, {'connected_gene': 'NEXN', 'score': 0.22}]
chr1 GH01I078002 78002645 78011212 2.76 [{'connected_gene': 'DNAJB4', 'score': 561.9}, {'connected_gene': 'NSRP1P1', 'score': 25.46}, {'connected_gene': 'FUBP1', 'score': 23.06}, {'connected_gene': 'ENSG00000273338', 'score': 13.03}, {'connected_gene': 'USP33', 'score': 11.91}, {'connected_gene': 'ZZZ3', 'score': 9.73}, {'connected_gene': 'GIPC2', 'score': 7.43}, {'connected_gene': 'NEXN', 'score': 6.05}, {'connected_gene': 'LOC100131495', 'score': 0.28}]
chr1 GH01I078061 78061025 78062856 1 [{'connected_gene': 'RNU6-1102P', 'score': 12.06}, {'connected_gene': 'LOC100422537', 'score': 12.06}, {'connected_gene': 'NEXN', 'score': 5.23}, {'connected_gene': 'FUBP1', 'score': 4.21}, {'connected_gene': 'LOC100131495', 'score': 0.37}, {'connected_gene': 'GIPC2', 'score': 0.18}]
chr1 GH01I078052 78052877 78053026 0.38 [{'connected_gene': 'RNU6-1102P', 'score': 11.63}, {'connected_gene': 'LOC100422537', 'score': 11.63}, {'connected_gene': 'NEXN', 'score': 6.58}, {'connected_gene': 'LOC100131495', 'score': 0.44}, {'connected_gene': 'GIPC2', 'score': 0.19}]
chr1 GH01I078055 78055174 78056340 0.82 [{'connected_gene': 'RNU6-1102P', 'score': 11.64}, {'connected_gene': 'LOC100422537', 'score': 11.63}, {'connected_gene': 'GIPC2', 'score': 11.57}, {'connected_gene': 'NEXN', 'score': 4.93}, {'connected_gene': 'LOC100131495', 'score': 0.39}]
chr1 GH01I077920 77920617 77920662 0.27 [{'connected_gene': 'RNU6-1102P', 'score': 11.05}, {'connected_gene': 'LOC100422537', 'score': 11.05}, {'connected_gene': 'ACTG1P21', 'score': 10.69}, {'connected_gene': 'RNA5SP21', 'score': 10.69}, {'connected_gene': 'MIGA1', 'score': 10.69}, {'connected_gene': 'NEXN', 'score': 8.23}, {'connected_gene': 'NEXN-AS1', 'score': 0.29}, {'connected_gene': 'DNAJB4', 'score': 0.22}]
chr1 GH01I077829 77829281 77835800 1.09 [{'connected_gene': 'RNA5SP21', 'score': 10.83}, {'connected_gene': 'MIGA1', 'score': 10.83}, {'connected_gene': 'ACTG1P21', 'score': 10.82}, {'connected_gene': 'USP33', 'score': 10.56}, {'connected_gene': 'IFI44', 'score': 5.16}, {'connected_gene': 'NEXN', 'score': 4.51}, {'connected_gene': 'FUBP1', 'score': 4.19}, {'connected_gene': 'NSRP1P1', 'score': 0.39}, {'connected_gene': 'LOC653631', 'score': 0.34}]
chr1 GH01I077900 77900796 77900945 0.74 [{'connected_gene': 'ACTG1P21', 'score': 10.52}, {'connected_gene': 'RNA5SP21', 'score': 10.52}, {'connected_gene': 'MIGA1', 'score': 10.52}, {'connected_gene': 'ZZZ3', 'score': 9.65}, {'connected_gene': 'NEXN-AS1', 'score': 0.39}, {'connected_gene': 'NEXN', 'score': 0.39}, {'connected_gene': 'DNAJB4', 'score': 0.18}]
chr1 GH01I077884 77884821 77885150 0.22 [{'connected_gene': 'GC01P077888', 'score': 550.77}, {'connected_gene': 'GC01P077899', 'score': 550.77}, {'connected_gene': 'PIR49289', 'score': 550.77}, {'connected_gene': 'GC01P077889', 'score': 550.77}, {'connected_gene': 'GC01P077900', 'score': 550.77}, {'connected_gene': 'MIGA1', 'score': 1.58}, {'connected_gene': 'NEXN-AS1', 'score': 0.77}, {'connected_gene': 'NEXN', 'score': 0.77}]

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