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
ENST00000569649 [[79619739, 79619838], [79632681, 79633799]] [[79619804, 79619838], [79632681, 79633799]]
ENST00000326043 [[79627734, 79628450], [79632681, 79634611]] [[79628356, 79628450], [79632681, 79633799]]
ENST00000393350 [[79628227, 79634611]] [[79632677, 79633799]]
NM_001031804 [[79627744, 79634622]] [[79632677, 79633799]]
NM_005360 [[79627744, 79628450], [79632681, 79634622]] [[79628356, 79628450], [79632681, 79633799]]
Promoter
Chrom Start End Description
chr16 79633589 79633599 CAGE_peak_18_at_MAF_5end
chr16 79633664 79633681 CAGE_peak_9_at_MAF_5end
chr16 79633682 79633694 CAGE_peak_12_at_MAF_5end
chr16 79633867 79633872 CAGE_peak_16_at_MAF_5end
chr16 79633883 79633892 CAGE_peak_6_at_MAF_5end
chr16 79633894 79633954 CAGE_peak_3_at_MAF_5end
chr16 79634447 79634462 CAGE_peak_8_at_MAF_5end
chr16 79634464 79634493 CAGE_peak_5_at_MAF_5end
chr16 79634581 79634592 CAGE_peak_4_at_MAF_5end
chr16 79634595 79634620 CAGE_peak_2_at_MAF_5end
chr16 79634624 79634642 CAGE_peak_1_at_MAF_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I078942 78942801 78943000 0.2 [{'connected_gene': 'MAF', 'score': 9.56}, {'connected_gene': 'PIR57498', 'score': 0.31}, {'connected_gene': 'GC16P078915', 'score': 0.31}, {'connected_gene': 'GC16P078974', 'score': 0.29}, {'connected_gene': 'WWOX', 'score': 0.02}]
chr16 GH16I079651 79651218 79651992 0.38 [{'connected_gene': 'MAF', 'score': 11.31}, {'connected_gene': 'GC16P079645', 'score': 0.44}, {'connected_gene': 'LOC105371356', 'score': 0.34}]
chr16 GH16I079657 79657729 79659725 0.89 [{'connected_gene': 'MAF', 'score': 11.3}, {'connected_gene': 'GC16P079645', 'score': 0.39}, {'connected_gene': 'LOC105371356', 'score': 0.37}]
chr16 GH16I079653 79653295 79654230 0.62 [{'connected_gene': 'MAF', 'score': 11.31}, {'connected_gene': 'GC16P079645', 'score': 0.44}, {'connected_gene': 'LOC105371356', 'score': 0.34}]
chr16 GH16I079217 79217844 79217893 0.31 [{'connected_gene': 'MAF', 'score': 10.8}, {'connected_gene': 'LOC105371352', 'score': 0.44}, {'connected_gene': 'ENSG00000261722', 'score': 0.39}]
chr16 GH16I079170 79170424 79171403 0.85 [{'connected_gene': 'MAF', 'score': 1.14}, {'connected_gene': 'LOC105371352', 'score': 0.26}, {'connected_gene': 'ENSG00000260511', 'score': 0.21}]
chr16 GH16I079163 79163401 79164600 0.77 [{'connected_gene': 'MAF', 'score': 9.98}, {'connected_gene': 'LOC105371352', 'score': 0.25}, {'connected_gene': 'ENSG00000260511', 'score': 0.22}]
chr16 GH16I079867 79867124 79868102 0.6 [{'connected_gene': 'MAF', 'score': 9.8}, {'connected_gene': 'GC16P079888', 'score': 0.34}, {'connected_gene': 'LINC01228', 'score': 0.26}]
chr16 GH16I079863 79863609 79864921 1.07 [{'connected_gene': 'MAF', 'score': 9.94}, {'connected_gene': 'GC16P079888', 'score': 0.34}, {'connected_gene': 'LINC01228', 'score': 0.28}]
chr16 GH16I079776 79776604 79776753 0.62 [{'connected_gene': 'MAF', 'score': 10.6}, {'connected_gene': 'MAFTRR', 'score': 0.44}, {'connected_gene': 'LINC01228', 'score': 0.23}, {'connected_gene': 'LINC01229', 'score': 0.15}]
chr16 GH16I079784 79784244 79784393 0.43 [{'connected_gene': 'MAF', 'score': 10.15}, {'connected_gene': 'MAFTRR', 'score': 0.39}, {'connected_gene': 'LINC01228', 'score': 0.26}, {'connected_gene': 'LINC01229', 'score': 0.14}]
chr16 GH16I079698 79698108 79698848 0.43 [{'connected_gene': 'MAF', 'score': 10.22}, {'connected_gene': 'LINC01229', 'score': 0.34}, {'connected_gene': 'ENSG00000279378', 'score': 0.34}, {'connected_gene': 'LOC105371356', 'score': 0.34}, {'connected_gene': 'MAFTRR', 'score': 0.19}]
chr16 GH16I079591 79591761 79604775 2.72 [{'connected_gene': 'MAF', 'score': 563.54}, {'connected_gene': 'LINC01229', 'score': 10.63}, {'connected_gene': 'LOC101928230', 'score': 0.77}, {'connected_gene': 'ENSG00000277214', 'score': 0.44}, {'connected_gene': 'ENSG00000261472', 'score': 0.16}]
chr16 GH16I079297 79297954 79298013 0.2 [{'connected_gene': 'MAF', 'score': 10.33}, {'connected_gene': 'RNA5SP431', 'score': 0.29}, {'connected_gene': 'ENSG00000261472', 'score': 0.08}]
chr16 GH16I079277 79277954 79279383 0.4 [{'connected_gene': 'MAF', 'score': 9.56}, {'connected_gene': 'RNA5SP431', 'score': 0.39}, {'connected_gene': 'ENSG00000261472', 'score': 0.07}]
chr16 GH16I079379 79379356 79379467 0.41 [{'connected_gene': 'MAF', 'score': 2.2}, {'connected_gene': 'RNA5SP431', 'score': 0.14}, {'connected_gene': 'ENSG00000261472', 'score': 0.13}]
chr16 GH16I079282 79282778 79284240 0.66 [{'connected_gene': 'MAF', 'score': 10.15}, {'connected_gene': 'RNA5SP431', 'score': 0.37}, {'connected_gene': 'ENSG00000261472', 'score': 0.07}]
chr16 GH16I079443 79443989 79445333 0.2 [{'connected_gene': 'MAF', 'score': 10.52}, {'connected_gene': 'ENSG00000261472', 'score': 0.21}, {'connected_gene': 'RNA5SP431', 'score': 0.09}]
chr16 GH16I079298 79298279 79300128 0.46 [{'connected_gene': 'MAF', 'score': 10.33}, {'connected_gene': 'RNA5SP431', 'score': 0.29}, {'connected_gene': 'ENSG00000261472', 'score': 0.08}]
chr16 GH16I079370 79370824 79370973 0.2 [{'connected_gene': 'MAF', 'score': 10.02}, {'connected_gene': 'RNA5SP431', 'score': 0.14}, {'connected_gene': 'ENSG00000261472', 'score': 0.12}]
chr16 GH16I079286 79286310 79288073 1.11 [{'connected_gene': 'MAF', 'score': 10.15}, {'connected_gene': 'RNA5SP431', 'score': 0.34}, {'connected_gene': 'ENSG00000261472', 'score': 0.08}]
chr16 GH16I079372 79372437 79372852 0.85 [{'connected_gene': 'MAF', 'score': 2.28}, {'connected_gene': 'RNA5SP431', 'score': 0.14}, {'connected_gene': 'ENSG00000261472', 'score': 0.12}]
chr16 GH16I079369 79369960 79370112 0.25 [{'connected_gene': 'MAF', 'score': 1.52}, {'connected_gene': 'RNA5SP431', 'score': 0.14}, {'connected_gene': 'ENSG00000261472', 'score': 0.12}]
chr16 GH16I079437 79437358 79438800 0.58 [{'connected_gene': 'MAF', 'score': 10.57}, {'connected_gene': 'ENSG00000261472', 'score': 0.2}, {'connected_gene': 'RNA5SP431', 'score': 0.09}]
chr16 GH16I079327 79327909 79329800 0.82 [{'connected_gene': 'MAF', 'score': 12.33}, {'connected_gene': 'RNA5SP431', 'score': 0.21}, {'connected_gene': 'ENSG00000261472', 'score': 0.1}]
chr16 GH16I079300 79300906 79301432 0.2 [{'connected_gene': 'MAF', 'score': 10.33}, {'connected_gene': 'RNA5SP431', 'score': 0.28}, {'connected_gene': 'ENSG00000261472', 'score': 0.08}]
chr16 GH16I079449 79449974 79450162 0.42 [{'connected_gene': 'MAF', 'score': 10.72}, {'connected_gene': 'ENSG00000261472', 'score': 0.22}, {'connected_gene': 'RNA5SP431', 'score': 0.09}]
chr16 GH16I079380 79380632 79382345 1.1 [{'connected_gene': 'MAF', 'score': 13.07}, {'connected_gene': 'RNA5SP431', 'score': 0.13}, {'connected_gene': 'ENSG00000261472', 'score': 0.13}]
chr16 GH16I079419 79419081 79419729 0.81 [{'connected_gene': 'MAF', 'score': 2.57}, {'connected_gene': 'ENSG00000261472', 'score': 0.17}, {'connected_gene': 'RNA5SP431', 'score': 0.1}]
chr16 GH16I079304 79304110 79304173 0.2 [{'connected_gene': 'MAF', 'score': 10.57}, {'connected_gene': 'RNA5SP431', 'score': 0.28}, {'connected_gene': 'ENSG00000261472', 'score': 0.08}]
chr16 GH16I079451 79451364 79451513 0.54 [{'connected_gene': 'MAF', 'score': 10.73}, {'connected_gene': 'ENSG00000261472', 'score': 0.23}, {'connected_gene': 'RNA5SP431', 'score': 0.09}]
chr16 GH16I079276 79276640 79276805 0.45 [{'connected_gene': 'MAF', 'score': 11.51}, {'connected_gene': 'RNA5SP431', 'score': 0.39}, {'connected_gene': 'ENSG00000261472', 'score': 0.07}]
chr16 GH16I079928 79928477 79930330 0.56 [{'connected_gene': 'MAF', 'score': 9.27}, {'connected_gene': 'GC16P079888', 'score': 0.26}, {'connected_gene': 'PIR33593', 'score': 0.16}]
chr16 GH16I079628 79628160 79629168 0.75 [{'connected_gene': 'MAF', 'score': 11.41}, {'connected_gene': 'ENSG00000275040', 'score': 0.44}, {'connected_gene': 'GC16P079645', 'score': 0.37}]
chr16 GH16I079571 79571184 79571333 0.38 [{'connected_gene': 'MAF', 'score': 11.5}, {'connected_gene': 'ENSG00000261472', 'score': 0.2}]
chr16 GH16I079574 79574747 79575043 0.26 [{'connected_gene': 'MAF', 'score': 5.98}, {'connected_gene': 'ENSG00000261472', 'score': 0.2}]
chr16 GH16I079579 79579555 79579951 0.24 [{'connected_gene': 'MAF', 'score': 0.34}, {'connected_gene': 'ENSG00000261472', 'score': 0.19}]
chr16 GH16I079575 79575411 79575636 0.35 [{'connected_gene': 'MAF', 'score': 6.48}, {'connected_gene': 'ENSG00000261472', 'score': 0.2}]
chr16 GH16I079586 79586029 79586209 0.47 [{'connected_gene': 'MAF', 'score': 7.05}, {'connected_gene': 'ENSG00000261472', 'score': 0.18}]
chr16 GH16I079589 79589572 79591400 0.78 [{'connected_gene': 'MAF', 'score': 0.39}, {'connected_gene': 'ENSG00000261472', 'score': 0.18}]
chr16 GH16I079583 79580634 79580771 0.26 [{'connected_gene': 'MAF', 'score': 6.97}, {'connected_gene': 'ENSG00000261472', 'score': 0.18}]
chr16 GH16I079564 79564155 79565738 0.8 [{'connected_gene': 'MAF', 'score': 11.31}, {'connected_gene': 'ENSG00000261472', 'score': 0.22}]
chr16 GH16I079580 79580904 79581053 0.2 [{'connected_gene': 'MAF', 'score': 0.37}, {'connected_gene': 'ENSG00000261472', 'score': 0.18}]
chr16 GH16I079582 79582918 79583256 0.37 [{'connected_gene': 'MAF', 'score': 14.43}, {'connected_gene': 'ENSG00000261472', 'score': 0.18}]
chr16 GH16I079581 79581618 79581840 0.22 [{'connected_gene': 'MAF', 'score': 10.02}, {'connected_gene': 'ENSG00000261472', 'score': 0.18}]
chr16 GH16I079588 79588906 79589028 0.44 [{'connected_gene': 'MAF', 'score': 7.14}, {'connected_gene': 'ENSG00000261472', 'score': 0.18}]
chr16 GH16I079541 79541477 79542747 0.54 [{'connected_gene': 'MAF', 'score': 11.1}, {'connected_gene': 'ENSG00000261472', 'score': 0.28}]
chr16 GH16I079587 79587737 79588866 0.31 [{'connected_gene': 'MAF', 'score': 6.96}, {'connected_gene': 'ENSG00000261472', 'score': 0.18}]
chr16 GH16I079213 79212524 79212693 0.2 [{'connected_gene': 'LOC105371352', 'score': 550.77}, {'connected_gene': 'MAF', 'score': 10.8}, {'connected_gene': 'ENSG00000261722', 'score': 0.37}]
chr16 GH16I079212 79212966 79214114 0.74 [{'connected_gene': 'LOC105371352', 'score': 550.77}, {'connected_gene': 'MAF', 'score': 10.8}, {'connected_gene': 'ENSG00000261722', 'score': 0.37}]
chr16 GH16I079691 79691015 79691563 0.31 [{'connected_gene': 'MAFTRR', 'score': 24.21}, {'connected_gene': 'MAF', 'score': 10.2}, {'connected_gene': 'ENSG00000279378', 'score': 0.39}, {'connected_gene': 'LINC01229', 'score': 0.37}, {'connected_gene': 'LOC105371356', 'score': 0.37}]
chr16 GH16I079718 79718982 79726727 0.89 [{'connected_gene': 'MAFTRR', 'score': 35.66}, {'connected_gene': 'MAF', 'score': 10.6}, {'connected_gene': 'LINC01229', 'score': 0.25}, {'connected_gene': 'ENSG00000279378', 'score': 0.25}, {'connected_gene': 'LOC105371356', 'score': 0.25}]
chr16 GH16I079711 79711991 79713041 0.58 [{'connected_gene': 'MAFTRR', 'score': 25.56}, {'connected_gene': 'MAF', 'score': 10.52}, {'connected_gene': 'ENSG00000279378', 'score': 0.29}, {'connected_gene': 'LINC01229', 'score': 0.28}, {'connected_gene': 'LOC105371356', 'score': 0.28}]
chr16 GH16I079764 79764200 79773292 1.88 [{'connected_gene': 'MAFTRR', 'score': 550.77}, {'connected_gene': 'LINC01229', 'score': 73.81}, {'connected_gene': 'MAF', 'score': 10.77}, {'connected_gene': 'ENSG00000279378', 'score': 0.16}]
chr16 GH16I079758 79758416 79759614 0.85 [{'connected_gene': 'LINC01229', 'score': 63.64}, {'connected_gene': 'MAF', 'score': 10.68}, {'connected_gene': 'MAFTRR', 'score': 0.39}, {'connected_gene': 'ENSG00000279378', 'score': 0.18}]
chr16 GH16I079750 79750320 79755402 0.89 [{'connected_gene': 'LINC01229', 'score': 58.31}, {'connected_gene': 'MAF', 'score': 10.2}, {'connected_gene': 'MAFTRR', 'score': 0.37}, {'connected_gene': 'ENSG00000279378', 'score': 0.18}]
chr16 GH16I079252 79252495 79253994 0.69 [{'connected_gene': 'RNA5SP431', 'score': 0.39}, {'connected_gene': 'ENSG00000261722', 'score': 0.34}, {'connected_gene': 'MAF', 'score': 0.05}]
chr16 GH16I079347 79347629 79348839 0.6 [{'connected_gene': 'RNA5SP431', 'score': 0.18}, {'connected_gene': 'ENSG00000261472', 'score': 0.1}, {'connected_gene': 'MAF', 'score': 0.07}]
chr16 GH16I079269 79269136 79270213 0.97 [{'connected_gene': 'RNA5SP431', 'score': 0.44}, {'connected_gene': 'ENSG00000261472', 'score': 0.07}, {'connected_gene': 'MAF', 'score': 0.06}]
chr16 GH16I079274 79274344 79274493 0.38 [{'connected_gene': 'RNA5SP431', 'score': 0.44}, {'connected_gene': 'ENSG00000261472', 'score': 0.07}, {'connected_gene': 'MAF', 'score': 0.05}]
chr16 GH16I079271 79271747 79272985 0.97 [{'connected_gene': 'RNA5SP431', 'score': 0.44}, {'connected_gene': 'ENSG00000261472', 'score': 0.07}, {'connected_gene': 'MAF', 'score': 0.05}]
chr16 GH16I079318 79318244 79318393 0.43 [{'connected_gene': 'RNA5SP431', 'score': 0.23}, {'connected_gene': 'ENSG00000261472', 'score': 0.09}, {'connected_gene': 'MAF', 'score': 0.06}]
chr16 GH16I079292 79292488 79296179 0.6 [{'connected_gene': 'RNA5SP431', 'score': 0.31}, {'connected_gene': 'ENSG00000261472', 'score': 0.08}, {'connected_gene': 'MAF', 'score': 0.06}]
chr16 GH16I078917 78916853 78917518 0.31 [{'connected_gene': 'PIR57498', 'score': 550.77}, {'connected_gene': 'GC16P078915', 'score': 550.77}, {'connected_gene': 'MAF', 'score': 9.69}, {'connected_gene': 'GC16P078974', 'score': 0.22}, {'connected_gene': 'WWOX', 'score': 0.03}]
chr16 GH16I079463 79463801 79464200 0.38 [{'connected_gene': 'ENSG00000261472', 'score': 0.26}, {'connected_gene': 'MAF', 'score': 0.12}, {'connected_gene': 'RNA5SP431', 'score': 0.08}]
chr16 GH16I079481 79481801 79482000 0.38 [{'connected_gene': 'ENSG00000261472', 'score': 0.34}, {'connected_gene': 'MAF', 'score': 0.13}, {'connected_gene': 'RNA5SP431', 'score': 0.08}]
chr16 GH16I079415 79415861 79416756 0.4 [{'connected_gene': 'ENSG00000261472', 'score': 0.17}, {'connected_gene': 'RNA5SP431', 'score': 0.1}, {'connected_gene': 'MAF', 'score': 0.09}]
chr16 GH16I079417 79417571 79418458 0.69 [{'connected_gene': 'ENSG00000261472', 'score': 0.17}, {'connected_gene': 'RNA5SP431', 'score': 0.1}, {'connected_gene': 'MAF', 'score': 0.09}]
chr16 GH16I079399 79399937 79403729 0.93 [{'connected_gene': 'ENSG00000261472', 'score': 0.15}, {'connected_gene': 'RNA5SP431', 'score': 0.12}, {'connected_gene': 'MAF', 'score': 0.08}]
chr16 GH16I079412 79412269 79413513 0.78 [{'connected_gene': 'ENSG00000261472', 'score': 0.16}, {'connected_gene': 'RNA5SP431', 'score': 0.11}, {'connected_gene': 'MAF', 'score': 0.09}]

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