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
ENST00000555720 [[51098775, 51100892], [51101931, 51102102], [51107467, 51107611], [51111461, 51111732], [51131896, 51132227]] [[51100870, 51100892], [51101931, 51102102], [51107467, 51107611], [51111461, 51111732], [51131896, 51132227]]
ENST00000324679 [[51100353, 51102102], [51107467, 51107611], [51111461, 51111732], [51131896, 51132337], [51134591, 51135049]] [[51101900, 51102102], [51107467, 51107611], [51111461, 51111732], [51131896, 51132337], [51134591, 51134685]]
ENST00000553731 [[51101545, 51102102], [51131896, 51132083]] [[51102085, 51102102], [51131896, 51132083]]
ENST00000557458 [[51101830, 51102102], [51111461, 51111527]] [[51101900, 51102102], [51111461, 51111527]]
ENST00000602664 [[51130973, 51131843]] None
ENST00000556735 [[51132318, 51132337], [51134099, 51134218], [51134591, 51135015]] [[51132318, 51132337], [51134099, 51134218], [51134591, 51134685]]
NM_021818 [[51100297, 51102102], [51107467, 51107611], [51111461, 51111732], [51131896, 51132337], [51134591, 51135071]] [[51101900, 51102102], [51107467, 51107611], [51111461, 51111732], [51131896, 51132337], [51134591, 51134685]]
Promoter
Chrom Start End Description
chr14 51135005 51135032 CAGE_peak_1_at_SAV1_5end
chr14 51135036 51135063 CAGE_peak_2_at_SAV1_5end
chr14 51135073 51135082 CAGE_peak_4_at_SAV1_5end
chr14 51135220 51135270 CAGE_peak_3_at_SAV1_5end
chr14 51135533 51135544 CAGE_peak_10_at_SAV1_5end
chr14 51135553 51135570 CAGE_peak_5_at_SAV1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I050725 50725839 50727492 0.46 [{'connected_gene': 'CDKL1', 'score': 10.25}, {'connected_gene': 'NIN', 'score': 9.48}, {'connected_gene': 'SAV1', 'score': 4.54}, {'connected_gene': 'ENSG00000270062', 'score': 0.77}, {'connected_gene': 'GC14M050675', 'score': 0.77}]
chr14 GH14I050737 50737078 50737194 0.98 [{'connected_gene': 'ATL1', 'score': 11.76}, {'connected_gene': 'SAV1', 'score': 11.45}, {'connected_gene': 'CDKL1', 'score': 10.44}, {'connected_gene': 'MAP4K5', 'score': 10.31}, {'connected_gene': 'NIN', 'score': 9.81}, {'connected_gene': 'GC14M050675', 'score': 0.44}, {'connected_gene': 'LOC105370489', 'score': 0.18}]
chr14 GH14I050734 50734993 50735982 0.52 [{'connected_gene': 'SAV1', 'score': 11.45}, {'connected_gene': 'CDKL1', 'score': 10.45}, {'connected_gene': 'MAP4K5', 'score': 10.31}, {'connected_gene': 'ATL1', 'score': 10.3}, {'connected_gene': 'NIN', 'score': 9.8}, {'connected_gene': 'GC14M050675', 'score': 0.44}, {'connected_gene': 'LOC105370489', 'score': 0.17}]
chr14 GH14I050665 50665200 50671073 2.24 [{'connected_gene': 'SAV1', 'score': 566.29}, {'connected_gene': 'TMX1', 'score': 13.27}, {'connected_gene': 'POLE2', 'score': 10.48}, {'connected_gene': 'VCPKMT', 'score': 10.47}, {'connected_gene': 'MAP4K5', 'score': 7.36}, {'connected_gene': 'CDKL1', 'score': 5.58}, {'connected_gene': 'GC14M050664', 'score': 0.77}, {'connected_gene': 'GC14P050662', 'score': 0.44}]
chr14 GH14I050647 50647325 50647946 0.52 [{'connected_gene': 'SAV1', 'score': 20.32}, {'connected_gene': 'NIN', 'score': 9.62}, {'connected_gene': 'GC14M050641', 'score': 0.44}, {'connected_gene': 'PIR58064', 'score': 0.44}, {'connected_gene': 'PIR38584', 'score': 0.44}]
chr14 GH14I050657 50657412 50659352 0.69 [{'connected_gene': 'SAV1', 'score': 13.87}, {'connected_gene': 'MAP4K5', 'score': 7.31}, {'connected_gene': 'GC14P050662', 'score': 0.77}, {'connected_gene': 'PIR38584', 'score': 0.44}]
chr14 GH14I050755 50755663 50757959 0.74 [{'connected_gene': 'SAV1', 'score': 9.99}, {'connected_gene': 'GC14M050675', 'score': 0.31}, {'connected_gene': 'LOC105370489', 'score': 0.2}, {'connected_gene': 'NIN', 'score': 0.19}]
chr14 GH14I050738 50738474 50742389 0.88 [{'connected_gene': 'NIN', 'score': 10.17}, {'connected_gene': 'SAV1', 'score': 9.82}, {'connected_gene': 'GC14M050675', 'score': 0.39}, {'connected_gene': 'LOC105370489', 'score': 0.18}]
chr14 GH14I050743 50743979 50746625 0.31 [{'connected_gene': 'NIN', 'score': 10.52}, {'connected_gene': 'SAV1', 'score': 10.1}, {'connected_gene': 'GC14M050675', 'score': 0.37}, {'connected_gene': 'LOC105370489', 'score': 0.18}]
chr14 GH14I050761 50761556 50764490 1.2 [{'connected_gene': 'NIN', 'score': 14.59}, {'connected_gene': 'SAV1', 'score': 10.24}, {'connected_gene': 'GC14M050675', 'score': 0.29}, {'connected_gene': 'LOC105370489', 'score': 0.22}]
chr14 GH14I050784 50784630 50793592 1.12 [{'connected_gene': 'NIN', 'score': 21.29}, {'connected_gene': 'ENSG00000252945', 'score': 10.75}, {'connected_gene': 'ABHD12B', 'score': 10.73}, {'connected_gene': 'SAV1', 'score': 10.63}, {'connected_gene': 'LOC105370489', 'score': 0.29}, {'connected_gene': 'GC14M050675', 'score': 0.22}]
chr14 GH14I050773 50773923 50776798 1.09 [{'connected_gene': 'NIN', 'score': 11.28}, {'connected_gene': 'MAP4K5', 'score': 10.72}, {'connected_gene': 'ATL1', 'score': 10.72}, {'connected_gene': 'ABHD12B', 'score': 10.16}, {'connected_gene': 'SAV1', 'score': 4.87}, {'connected_gene': 'LOC105370489', 'score': 0.25}, {'connected_gene': 'GC14M050675', 'score': 0.25}]
chr14 GH14I050319 50319040 50322539 1.7 [{'connected_gene': 'ATP5S', 'score': 33.59}, {'connected_gene': 'KLHDC2', 'score': 12.37}, {'connected_gene': 'NEMF', 'score': 10.62}, {'connected_gene': 'SAV1', 'score': 10.58}, {'connected_gene': 'MAP4K5', 'score': 10.15}, {'connected_gene': 'CDKL1', 'score': 4.5}, {'connected_gene': 'PIR33272', 'score': 0.77}, {'connected_gene': 'L2HGDH', 'score': 0.44}]
chr14 GH14I050770 50769742 50771110 0.51 [{'connected_gene': 'ABHD12B', 'score': 10.72}, {'connected_gene': 'NIN', 'score': 10.66}, {'connected_gene': 'MAP4K5', 'score': 10.08}, {'connected_gene': 'ATL1', 'score': 10.07}, {'connected_gene': 'SAV1', 'score': 9.32}, {'connected_gene': 'GC14M050675', 'score': 0.26}, {'connected_gene': 'LOC105370489', 'score': 0.23}]
chr14 GH14I050768 50768324 50769274 0.66 [{'connected_gene': 'ABHD12B', 'score': 10.72}, {'connected_gene': 'NIN', 'score': 10.66}, {'connected_gene': 'MAP4K5', 'score': 10.08}, {'connected_gene': 'ATL1', 'score': 10.07}, {'connected_gene': 'SAV1', 'score': 6.69}, {'connected_gene': 'GC14M050675', 'score': 0.28}, {'connected_gene': 'LOC105370489', 'score': 0.23}]
chr14 GH14I051419 51419446 51420510 0.62 [{'connected_gene': 'FRMD6', 'score': 12.21}, {'connected_gene': 'SAV1', 'score': 10.55}, {'connected_gene': 'MAP4K5', 'score': 10.1}, {'connected_gene': 'GC14P051436', 'score': 0.37}, {'connected_gene': 'SETP2', 'score': 0.37}, {'connected_gene': 'LINC02310', 'score': 0.34}]
chr14 GH14I050509 50509038 50517475 0.46 [{'connected_gene': 'MAP4K5', 'score': 18.31}, {'connected_gene': 'CDKL1', 'score': 11.52}, {'connected_gene': 'SAV1', 'score': 10.11}, {'connected_gene': 'NIN', 'score': 9.47}, {'connected_gene': 'ATL1', 'score': 0.37}, {'connected_gene': 'LOC100419913', 'score': 0.26}]
chr14 GH14I050528 50528191 50534112 2.23 [{'connected_gene': 'MAP4K5', 'score': 555.86}, {'connected_gene': 'ATL1', 'score': 550.77}, {'connected_gene': 'CDKL1', 'score': 15.43}, {'connected_gene': 'SAV1', 'score': 11.27}, {'connected_gene': 'ENSG00000259113', 'score': 4.82}, {'connected_gene': 'LOC100419913', 'score': 0.22}]
chr14 GH14I050496 50496759 50499364 0.2 [{'connected_gene': 'MAP4K5', 'score': 18.34}, {'connected_gene': 'ATL1', 'score': 11.32}, {'connected_gene': 'CDKL1', 'score': 11.27}, {'connected_gene': 'SAV1', 'score': 4.95}, {'connected_gene': 'LOC100419913', 'score': 0.31}]
chr14 GH14I050675 50675030 50678895 1.42 [{'connected_gene': 'MAP4K5', 'score': 18.01}, {'connected_gene': 'ATL1', 'score': 10.2}, {'connected_gene': 'NIN', 'score': 9.49}, {'connected_gene': 'CDKL1', 'score': 6.09}, {'connected_gene': 'SAV1', 'score': 0.44}, {'connected_gene': 'GC14P050697', 'score': 0.34}, {'connected_gene': 'GC14M050675', 'score': 0.23}]
chr14 GH14I050451 50451957 50454711 0.46 [{'connected_gene': 'MAP4K5', 'score': 5.13}, {'connected_gene': 'SAV1', 'score': 4.42}, {'connected_gene': 'ENSG00000259113', 'score': 0.77}, {'connected_gene': 'GC14M050470', 'score': 0.37}, {'connected_gene': 'ENSG00000201573', 'score': 0.37}]
chr14 GH14I050650 50650355 50651936 0.94 [{'connected_gene': 'PIR38584', 'score': 550.77}, {'connected_gene': 'SAV1', 'score': 8.48}, {'connected_gene': 'CDKL1', 'score': 6.34}, {'connected_gene': 'PYGL', 'score': 4.46}, {'connected_gene': 'GC14M050641', 'score': 0.39}, {'connected_gene': 'PIR58064', 'score': 0.39}]
chr14 GH14I050659 50659423 50659592 0.46 [{'connected_gene': 'GC14P050662', 'score': 0.77}, {'connected_gene': 'SAV1', 'score': 0.44}, {'connected_gene': 'PIR38584', 'score': 0.44}]