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
ENST00000520164 [[25699245, 25702156], [25708109, 25708277], [25715834, 25716020], [25718564, 25718742], [25718824, 25718890], [25720224, 25720313], [25744270, 25744397], [25745357, 25745488], [25747267, 25747385], [25765989, 25766071], [25890600, 25890669], [25897543, 25897617], [25898131, 25898187], [25898454, 25898518], [25899610, 25899767], [25902244, 25902913]] [[25702124, 25702156], [25708109, 25708277], [25715834, 25716020], [25718564, 25718742], [25718824, 25718890], [25720224, 25720313], [25744270, 25744397], [25745357, 25745488], [25747267, 25747385], [25765989, 25766071], [25890600, 25890669], [25897543, 25897617], [25898131, 25898187], [25898454, 25898518], [25899610, 25899767], [25902244, 25902375]]
ENST00000408929 [[25701877, 25702156], [25708109, 25708277], [25715834, 25716020], [25718564, 25718742], [25718824, 25718890], [25720224, 25720313], [25744270, 25744397], [25745357, 25745488], [25747267, 25747385], [25765989, 25766071], [25890600, 25890669], [25897543, 25897617], [25898131, 25898187], [25898454, 25898518], [25898803, 25899004]] [[25702124, 25702156], [25708109, 25708277], [25715834, 25716020], [25718564, 25718742], [25718824, 25718890], [25720224, 25720313], [25744270, 25744397], [25745357, 25745488], [25747267, 25747385], [25765989, 25766071], [25890600, 25890669], [25897543, 25897581]]
ENST00000535548 [[25702124, 25702156], [25708109, 25708277], [25715574, 25715670], [25715834, 25716020], [25718564, 25718742], [25718824, 25718890], [25720224, 25720313], [25744270, 25744397], [25745357, 25745432]] [[25715596, 25715670], [25715834, 25716020], [25718564, 25718742], [25718824, 25718890], [25720224, 25720313], [25744270, 25744397], [25745357, 25745432]]
ENST00000517825 [[25888965, 25890669], [25897543, 25897617], [25898131, 25898187], [25898454, 25898518], [25899610, 25899767], [25902244, 25902694]] None
NM_022659 [[25699245, 25702156], [25708109, 25708277], [25715834, 25716020], [25718564, 25718742], [25718824, 25718890], [25720224, 25720313], [25744270, 25744397], [25745357, 25745488], [25747267, 25747385], [25765989, 25766071], [25890600, 25890669], [25897543, 25897617], [25898131, 25898187], [25898454, 25898518], [25899610, 25899767], [25902244, 25902640]] [[25702124, 25702156], [25708109, 25708277], [25715834, 25716020], [25718564, 25718742], [25718824, 25718890], [25720224, 25720313], [25744270, 25744397], [25745357, 25745488], [25747267, 25747385], [25765989, 25766071], [25890600, 25890669], [25897543, 25897617], [25898131, 25898187], [25898454, 25898518], [25899610, 25899767], [25902244, 25902375]]
Promoter
Chrom Start End Description
chr8 25902668 25902680 CAGE_peak_3_at_EBF2_5end
chr8 25902876 25902936 CAGE_peak_1_at_EBF2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I025438 25438371 25438976 0.46 [{'connected_gene': 'DOCK5', 'score': 10.91}, {'connected_gene': 'EBF2', 'score': 4.95}, {'connected_gene': 'GC08M025389', 'score': 0.77}, {'connected_gene': 'GC08P025445', 'score': 0.44}, {'connected_gene': 'KCTD9', 'score': 0.37}]
chr8 GH08I025854 25854307 25856078 0.2 [{'connected_gene': 'EBF2', 'score': 5.32}, {'connected_gene': 'LOC102723395', 'score': 0.37}, {'connected_gene': 'ENSG00000254178', 'score': 0.37}, {'connected_gene': 'GC08M025907', 'score': 0.21}]
chr8 GH08I025880 25880543 25880891 0.22 [{'connected_gene': 'EBF2', 'score': 1.67}, {'connected_gene': 'GC08M025907', 'score': 0.28}, {'connected_gene': 'ENSG00000254178', 'score': 0.26}]
chr8 GH08I026088 26088649 26089400 0.95 [{'connected_gene': 'EBF2', 'score': 11.65}, {'connected_gene': 'GC08M026059', 'score': 0.77}, {'connected_gene': 'GC08M026088', 'score': 0.37}, {'connected_gene': 'GC08M026090', 'score': 0.37}, {'connected_gene': 'GC08M026089', 'score': 0.37}]
chr8 GH08I025893 25893248 25897115 0.91 [{'connected_gene': 'EBF2', 'score': 4.78}, {'connected_gene': 'GC08M025907', 'score': 0.34}, {'connected_gene': 'ENSG00000254178', 'score': 0.22}]
chr8 GH08I025898 25898039 25900061 0.77 [{'connected_gene': 'EBF2', 'score': 5.19}, {'connected_gene': 'GC08M025907', 'score': 0.34}, {'connected_gene': 'ENSG00000254178', 'score': 0.22}]
chr8 GH08I025903 25903602 25906447 0.31 [{'connected_gene': 'EBF2', 'score': 5.17}, {'connected_gene': 'GC08M025907', 'score': 0.39}, {'connected_gene': 'ENSG00000254178', 'score': 0.21}]
chr8 GH08I026050 26049125 26049354 0.38 [{'connected_gene': 'EBF2', 'score': 0.77}, {'connected_gene': 'GC08M026059', 'score': 0.26}]
chr8 GH08I026017 26017023 26018128 0.51 [{'connected_gene': 'EBF2', 'score': 0.31}, {'connected_gene': 'GC08M025942', 'score': 0.19}]
chr8 GH08I026005 26005679 26011059 1.32 [{'connected_gene': 'EBF2', 'score': 1.85}, {'connected_gene': 'GC08M025942', 'score': 0.21}]
chr8 GH08I026040 26040177 26041865 0.43 [{'connected_gene': 'EBF2', 'score': 0.77}, {'connected_gene': 'GC08M025942', 'score': 0.15}]
chr8 GH08I026042 26042954 26048354 1.62 [{'connected_gene': 'EBF2', 'score': 550.77}, {'connected_gene': 'GC08M026059', 'score': 0.25}]
chr8 GH08I026019 26019105 26019274 0.52 [{'connected_gene': 'EBF2', 'score': 0.31}, {'connected_gene': 'GC08M025942', 'score': 0.18}]
chr8 GH08I026049 26049425 26049574 0.31 [{'connected_gene': 'EBF2', 'score': 0.77}, {'connected_gene': 'GC08M026059', 'score': 0.26}]
chr8 GH08I026037 26037148 26037697 0.66 [{'connected_gene': 'EBF2', 'score': 0.44}, {'connected_gene': 'GC08M025942', 'score': 0.16}]
chr8 GH08I026018 26018165 26018314 0.4 [{'connected_gene': 'EBF2', 'score': 0.31}, {'connected_gene': 'GC08M025942', 'score': 0.19}]
chr8 GH08I026014 26014765 26015072 0.4 [{'connected_gene': 'EBF2', 'score': 0.29}, {'connected_gene': 'GC08M025942', 'score': 0.19}]
chr8 GH08I026032 26032172 26032365 0.2 [{'connected_gene': 'EBF2', 'score': 0.39}, {'connected_gene': 'GC08M025942', 'score': 0.17}]
chr8 GH08I025997 25997399 26000414 0.97 [{'connected_gene': 'GNRH1', 'score': 30.45}, {'connected_gene': 'ENSG00000253476', 'score': 14.57}, {'connected_gene': 'EBF2', 'score': 11.82}, {'connected_gene': 'KCTD9', 'score': 10.17}, {'connected_gene': 'GC08M025942', 'score': 0.22}]
chr8 GH08I025924 25924115 25926849 0.77 [{'connected_gene': 'GC08M025907', 'score': 0.44}, {'connected_gene': 'GC08P025935', 'score': 0.44}, {'connected_gene': 'EBF2', 'score': 0.13}]
chr8 GH08I025911 25911696 25911849 0.58 [{'connected_gene': 'GC08M025907', 'score': 0.44}, {'connected_gene': 'ENSG00000254178', 'score': 0.19}, {'connected_gene': 'EBF2', 'score': 0.12}]
chr8 GH08I025973 25973782 25978079 1.09 [{'connected_gene': 'GC08M025942', 'score': 0.29}, {'connected_gene': 'EBF2', 'score': 0.2}]
chr8 GH08I025908 25908412 25911590 0.63 [{'connected_gene': 'GC08M025907', 'score': 0.44}, {'connected_gene': 'ENSG00000254178', 'score': 0.2}, {'connected_gene': 'EBF2', 'score': 0.12}]
chr8 GH08I026078 26077845 26077994 0.38 [{'connected_gene': 'GC08M026059', 'score': 0.39}, {'connected_gene': 'EBF2', 'score': 0.29}]
chr8 GH08I025948 25948825 25948974 0.68 [{'connected_gene': 'GC08M025942', 'score': 0.44}, {'connected_gene': 'EBF2', 'score': 0.15}]
chr8 GH08I025958 25958145 25958294 0.38 [{'connected_gene': 'GC08M025942', 'score': 0.39}, {'connected_gene': 'EBF2', 'score': 0.17}]
chr8 GH08I025877 25877570 25877669 0.22 [{'connected_gene': 'ENSG00000254178', 'score': 0.28}, {'connected_gene': 'GC08M025907', 'score': 0.26}, {'connected_gene': 'EBF2', 'score': 0.1}]
chr8 GH08I025959 25958565 25959257 0.94 [{'connected_gene': 'GC08M025942', 'score': 0.37}, {'connected_gene': 'EBF2', 'score': 0.17}]
chr8 GH08I025917 25917644 25919153 0.91 [{'connected_gene': 'GC08M025907', 'score': 550.77}, {'connected_gene': 'ENSG00000254178', 'score': 0.18}, {'connected_gene': 'EBF2', 'score': 0.13}]
chr8 GH08I026077 26077605 26077734 0.31 [{'connected_gene': 'GC08M026059', 'score': 0.39}, {'connected_gene': 'EBF2', 'score': 0.29}]
chr8 GH08I025916 25916348 25917566 0.51 [{'connected_gene': 'GC08M025907', 'score': 0.77}, {'connected_gene': 'ENSG00000254178', 'score': 0.18}, {'connected_gene': 'EBF2', 'score': 0.13}]
chr8 GH08I025988 25988825 25991563 0.8 [{'connected_gene': 'GC08M025942', 'score': 0.25}, {'connected_gene': 'EBF2', 'score': 0.22}]
chr8 GH08I025981 25981893 25984564 0.69 [{'connected_gene': 'GC08M025942', 'score': 0.28}, {'connected_gene': 'EBF2', 'score': 0.21}]
chr8 GH08I026076 26076745 26076854 0.2 [{'connected_gene': 'GC08M026059', 'score': 0.39}, {'connected_gene': 'EBF2', 'score': 0.29}]
chr8 GH08I025934 25934266 25939853 1.06 [{'connected_gene': 'GC08P025935', 'score': 550.77}, {'connected_gene': 'GC08M025942', 'score': 0.44}, {'connected_gene': 'EBF2', 'score': 0.14}]
chr8 GH08I025962 25962016 25963276 0.51 [{'connected_gene': 'GC08M025942', 'score': 0.37}, {'connected_gene': 'EBF2', 'score': 0.18}]
chr8 GH08I025913 25913562 25915509 0.63 [{'connected_gene': 'GC08M025907', 'score': 0.77}, {'connected_gene': 'ENSG00000254178', 'score': 0.19}, {'connected_gene': 'EBF2', 'score': 0.12}]
chr8 GH08I025922 25922381 25923571 0.2 [{'connected_gene': 'GC08M025907', 'score': 0.77}, {'connected_gene': 'GC08P025935', 'score': 0.39}, {'connected_gene': 'EBF2', 'score': 0.13}]