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
ENST00000368994 [[124030820, 124031029], [124034554, 124034614], [124036302, 124036454], [124043365, 124043439], [124045619, 124045763], [124049423, 124049513], [124050594, 124050709], [124057282, 124057352], [124058518, 124058649], [124066703, 124066823], [124088994, 124089086], [124090690, 124090773], [124091950, 124092028], [124094395, 124094494], [124096008, 124096197], [124097531, 124097676]] [[124034596, 124034614], [124036302, 124036454], [124043365, 124043439], [124045619, 124045763], [124049423, 124049513], [124050594, 124050709], [124057282, 124057352], [124058518, 124058649], [124066703, 124066823], [124088994, 124089086], [124090690, 124090773], [124091950, 124092028], [124094395, 124094494], [124096008, 124096197], [124097531, 124097600]]
ENST00000260723 [[124030820, 124031029], [124034554, 124034614], [124036305, 124036454], [124043365, 124043439], [124045619, 124045763], [124049423, 124049513], [124050594, 124050709], [124057282, 124057352], [124058518, 124058649], [124066703, 124066823], [124088994, 124089086], [124090690, 124090773], [124091950, 124092028], [124094395, 124094494], [124096008, 124096197], [124097531, 124097677]] [[124034596, 124034614], [124036305, 124036454], [124043365, 124043439], [124045619, 124045763], [124049423, 124049513], [124050594, 124050709], [124057282, 124057352], [124058518, 124058649], [124066703, 124066823], [124088994, 124089086], [124090690, 124090773], [124091950, 124092028], [124094395, 124094494], [124096008, 124096197], [124097531, 124097600]]
ENST00000507495 [[124050595, 124050709], [124050940, 124051205]] None
ENST00000495370 [[124091481, 124091773], [124091950, 124092028], [124094395, 124094494], [124096008, 124096137]] None
NM_144587 [[124030810, 124031029], [124034554, 124034614], [124036305, 124036454], [124043365, 124043439], [124045619, 124045763], [124049423, 124049513], [124050594, 124050709], [124057282, 124057352], [124058518, 124058649], [124066703, 124066823], [124088994, 124089086], [124090690, 124090773], [124091950, 124092028], [124094395, 124094494], [124096008, 124096197], [124097531, 124097695]] [[124034596, 124034614], [124036305, 124036454], [124043365, 124043439], [124045619, 124045763], [124049423, 124049513], [124050594, 124050709], [124057282, 124057352], [124058518, 124058649], [124066703, 124066823], [124088994, 124089086], [124090690, 124090773], [124091950, 124092028], [124094395, 124094494], [124096008, 124096197], [124097531, 124097600]]
NM_001318189 [[124030810, 124031029], [124034554, 124034614], [124036302, 124036454], [124043365, 124043439], [124045619, 124045763], [124049423, 124049513], [124050594, 124050709], [124057282, 124057352], [124058518, 124058649], [124066703, 124066823], [124088994, 124089086], [124090690, 124090773], [124091950, 124092028], [124094395, 124094494], [124096008, 124096197], [124097531, 124097695]] [[124034596, 124034614], [124036302, 124036454], [124043365, 124043439], [124045619, 124045763], [124049423, 124049513], [124050594, 124050709], [124057282, 124057352], [124058518, 124058649], [124066703, 124066823], [124088994, 124089086], [124090690, 124090773], [124091950, 124092028], [124094395, 124094494], [124096008, 124096197], [124097531, 124097600]]
Promoter
Chrom Start End Description
chr10 124030807 124030818 CAGE_peak_7_at_BTBD16_5end
chr10 124030819 124030827 CAGE_peak_11_at_BTBD16_5end
chr10 124050485 124050505 CAGE_peak_2_at_BTBD16_5end
chr10 124050511 124050520 CAGE_peak_9_at_BTBD16_5end
chr10 124050535 124050566 CAGE_peak_3_at_BTBD16_5end
chr10 124050568 124050578 CAGE_peak_6_at_BTBD16_5end
chr10 124050589 124050596 CAGE_peak_15_at_BTBD16_5end
chr10 124091446 124091466 CAGE_peak_1_at_BTBD16_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I122331 122331219 122332040 1.03 [{'connected_gene': 'IKZF5', 'score': 12.52}, {'connected_gene': 'BUB3', 'score': 12.23}, {'connected_gene': 'FAM24B', 'score': 10.92}, {'connected_gene': 'C10orf88', 'score': 10.58}, {'connected_gene': 'ARMS2', 'score': 10.03}, {'connected_gene': 'GC10P122346', 'score': 0.39}, {'connected_gene': 'BTBD16', 'score': 0.21}]
chr10 GH10I122338 122338594 122339617 0.4 [{'connected_gene': 'HTRA1', 'score': 9.98}, {'connected_gene': 'PLEKHA1', 'score': 5.71}, {'connected_gene': 'GC10P122346', 'score': 0.44}, {'connected_gene': 'BTBD16', 'score': 0.2}]
chr10 GH10I122341 122341306 122341455 0.51 [{'connected_gene': 'HTRA1', 'score': 9.98}, {'connected_gene': 'PLEKHA1', 'score': 6.46}, {'connected_gene': 'GC10P122346', 'score': 0.77}, {'connected_gene': 'BTBD16', 'score': 0.19}]
chr10 GH10I122342 122342085 122343567 1.03 [{'connected_gene': 'HTRA1', 'score': 9.98}, {'connected_gene': 'ARMS2', 'score': 8.02}, {'connected_gene': 'GC10P122346', 'score': 0.77}, {'connected_gene': 'BTBD16', 'score': 0.19}]
chr10 GH10I122363 122363046 122364587 0.43 [{'connected_gene': 'HTRA1', 'score': 9.99}, {'connected_gene': 'BTBD16', 'score': 8.08}, {'connected_gene': 'PLEKHA1', 'score': 6.7}, {'connected_gene': 'ARMS2', 'score': 6.56}, {'connected_gene': 'RNU6-728P', 'score': 0.37}]
chr10 GH10I122348 122347452 122351432 0.57 [{'connected_gene': 'HTRA1', 'score': 16.74}, {'connected_gene': 'BTBD16', 'score': 8.47}, {'connected_gene': 'ARMS2', 'score': 8.36}, {'connected_gene': 'PLEKHA1', 'score': 6.6}, {'connected_gene': 'RNU6-728P', 'score': 0.77}]
chr10 GH10I122167 122167360 122169197 0.69 [{'connected_gene': 'HTRA1', 'score': 9.68}, {'connected_gene': 'GC10M122162', 'score': 0.77}, {'connected_gene': 'BTBD16', 'score': 0.15}, {'connected_gene': 'TACC2', 'score': 0.1}]
chr10 GH10I122323 122323517 122325205 0.52 [{'connected_gene': 'HTRA1', 'score': 10.25}, {'connected_gene': 'GC10P122346', 'score': 0.34}, {'connected_gene': 'BTBD16', 'score': 0.23}]
chr10 GH10I122324 122323346 122323495 0.38 [{'connected_gene': 'HTRA1', 'score': 10.25}, {'connected_gene': 'GC10P122346', 'score': 0.34}, {'connected_gene': 'BTBD16', 'score': 0.23}]
chr10 GH10I122473 122473664 122476776 0.89 [{'connected_gene': 'ARMS2', 'score': 16.95}, {'connected_gene': 'BTBD16', 'score': 6.07}, {'connected_gene': 'HTRA1', 'score': 0.39}, {'connected_gene': 'LOC105378526', 'score': 0.39}]
chr10 GH10I122450 122449786 122451404 0.58 [{'connected_gene': 'ARMS2', 'score': 24.0}, {'connected_gene': 'BTBD16', 'score': 10.36}, {'connected_gene': 'LOC105378525', 'score': 0.39}, {'connected_gene': 'PIR55685', 'score': 0.34}]
chr10 GH10I123007 123007163 123010000 2.06 [{'connected_gene': 'ACADSB', 'score': 586.7}, {'connected_gene': 'IKZF5', 'score': 550.77}, {'connected_gene': 'BTBD16', 'score': 5.69}, {'connected_gene': 'GC10M122775', 'score': 0.44}]
chr10 GH10I123017 123017345 123018709 0.38 [{'connected_gene': 'ACADSB', 'score': 35.79}, {'connected_gene': 'HMX3', 'score': 10.05}, {'connected_gene': 'BTBD16', 'score': 4.9}, {'connected_gene': 'GC10P123103', 'score': 0.17}]
chr10 GH10I123137 123135285 123135796 0.98 [{'connected_gene': 'HMX3', 'score': 550.77}, {'connected_gene': 'BTBD16', 'score': 4.72}, {'connected_gene': 'GC10P123103', 'score': 0.29}]
chr10 GH10I122979 122979686 122981434 2.06 [{'connected_gene': 'PSTK', 'score': 550.31}, {'connected_gene': 'ACADSB', 'score': 23.45}, {'connected_gene': 'BUB3', 'score': 16.98}, {'connected_gene': 'IKZF5', 'score': 11.59}, {'connected_gene': 'BTBD16', 'score': 5.2}, {'connected_gene': 'GC10M122775', 'score': 0.34}, {'connected_gene': 'C10orf88', 'score': 0.31}]
chr10 GH10I122284 122284411 122288948 0.84 [{'connected_gene': 'BTBD16', 'score': 37.53}, {'connected_gene': 'C10orf88', 'score': 15.82}, {'connected_gene': 'HTRA1', 'score': 10.64}, {'connected_gene': 'GC10P122346', 'score': 0.22}]
chr10 GH10I122306 122306131 122312676 1.68 [{'connected_gene': 'BTBD16', 'score': 19.71}, {'connected_gene': 'IKZF5', 'score': 10.82}, {'connected_gene': 'BUB3', 'score': 10.44}, {'connected_gene': 'NSMCE4A', 'score': 10.39}, {'connected_gene': 'GC10P122346', 'score': 0.28}]
chr10 GH10I122419 122419369 122423372 0.69 [{'connected_gene': 'BTBD16', 'score': 16.23}, {'connected_gene': 'PLEKHA1', 'score': 16.17}, {'connected_gene': 'HTRA1', 'score': 11.1}, {'connected_gene': 'ARMS2', 'score': 10.72}, {'connected_gene': 'LOC105378524', 'score': 0.77}, {'connected_gene': 'PIR55685', 'score': 0.44}]
chr10 GH10I122362 122362785 122362934 0.38 [{'connected_gene': 'BTBD16', 'score': 10.04}, {'connected_gene': 'HTRA1', 'score': 9.99}, {'connected_gene': 'PLEKHA1', 'score': 0.39}, {'connected_gene': 'RNU6-728P', 'score': 0.37}]
chr10 GH10I122232 122232142 122235132 0.31 [{'connected_gene': 'BTBD16', 'score': 15.96}, {'connected_gene': 'HTRA1', 'score': 9.88}, {'connected_gene': 'GC10M122162', 'score': 0.2}, {'connected_gene': 'TACC2', 'score': 0.07}]
chr10 GH10I122236 122236807 122238449 0.43 [{'connected_gene': 'BTBD16', 'score': 15.96}, {'connected_gene': 'HTRA1', 'score': 9.88}, {'connected_gene': 'GC10M122162', 'score': 0.19}, {'connected_gene': 'TACC2', 'score': 0.07}]
chr10 GH10I122449 122449205 122449354 0.59 [{'connected_gene': 'BTBD16', 'score': 10.36}, {'connected_gene': 'ARMS2', 'score': 0.44}, {'connected_gene': 'LOC105378525', 'score': 0.39}, {'connected_gene': 'PIR55685', 'score': 0.37}]
chr10 GH10I122291 122291795 122295663 0.93 [{'connected_gene': 'BTBD16', 'score': 20.33}, {'connected_gene': 'ARMS2', 'score': 10.42}, {'connected_gene': 'GC10P122346', 'score': 0.23}]
chr10 GH10I122447 122447085 122447234 0.66 [{'connected_gene': 'BTBD16', 'score': 10.36}, {'connected_gene': 'ARMS2', 'score': 0.44}, {'connected_gene': 'PIR55685', 'score': 0.37}]
chr10 GH10I122298 122298386 122299529 1.23 [{'connected_gene': 'BTBD16', 'score': 11.98}, {'connected_gene': 'ARMS2', 'score': 10.43}, {'connected_gene': 'GC10P122346', 'score': 0.25}]
chr10 GH10I122239 122239547 122240615 0.2 [{'connected_gene': 'BTBD16', 'score': 16.48}, {'connected_gene': 'GC10M122162', 'score': 0.18}, {'connected_gene': 'TACC2', 'score': 0.07}]
chr10 GH10I122243 122243626 122243895 0.2 [{'connected_gene': 'BTBD16', 'score': 11.61}, {'connected_gene': 'GC10M122162', 'score': 0.18}, {'connected_gene': 'TACC2', 'score': 0.07}]
chr10 GH10I122180 122180902 122184621 1.27 [{'connected_gene': 'BTBD16', 'score': 6.09}, {'connected_gene': 'GC10M122162', 'score': 0.37}, {'connected_gene': 'TACC2', 'score': 0.08}]
chr10 GH10I122146 122146061 122155748 1.28 [{'connected_gene': 'BTBD16', 'score': 5.5}, {'connected_gene': 'GC10M122162', 'score': 0.39}, {'connected_gene': 'GC10P122094', 'score': 0.22}, {'connected_gene': 'TACC2', 'score': 0.1}]
chr10 GH10I122198 122198591 122200646 0.2 [{'connected_gene': 'BTBD16', 'score': 6.1}, {'connected_gene': 'GC10M122162', 'score': 0.28}, {'connected_gene': 'TACC2', 'score': 0.08}]
chr10 GH10I122222 122222046 122222195 0.2 [{'connected_gene': 'BTBD16', 'score': 0.25}, {'connected_gene': 'GC10M122162', 'score': 0.22}, {'connected_gene': 'TACC2', 'score': 0.07}]
chr10 GH10I122304 122304916 122305647 0.51 [{'connected_gene': 'BTBD16', 'score': 23.33}, {'connected_gene': 'GC10P122346', 'score': 0.26}]
chr10 GH10I122279 122279601 122279995 1.03 [{'connected_gene': 'BTBD16', 'score': 11.19}, {'connected_gene': 'GC10P122346', 'score': 0.2}]
chr10 GH10I122265 122265637 122266207 0.4 [{'connected_gene': 'BTBD16', 'score': 0.77}, {'connected_gene': 'GC10M122162', 'score': 0.15}]
chr10 GH10I122281 122281881 122283335 0.71 [{'connected_gene': 'BTBD16', 'score': 37.05}, {'connected_gene': 'GC10P122346', 'score': 0.21}]
chr10 GH10I122277 122277142 122277339 0.69 [{'connected_gene': 'BTBD16', 'score': 8.67}, {'connected_gene': 'GC10P122346', 'score': 0.2}]
chr10 GH10I122267 122267707 122268413 0.76 [{'connected_gene': 'BTBD16', 'score': 22.1}, {'connected_gene': 'GC10M122162', 'score': 0.15}]
chr10 GH10I122271 122271249 122271308 0.5 [{'connected_gene': 'BTBD16', 'score': 550.77}, {'connected_gene': 'GC10P122346', 'score': 0.19}]
chr10 GH10I122301 122301226 122301415 0.95 [{'connected_gene': 'BTBD16', 'score': 35.04}, {'connected_gene': 'GC10P122346', 'score': 0.26}]
chr10 GH10I122263 122263712 122265352 0.66 [{'connected_gene': 'BTBD16', 'score': 41.29}, {'connected_gene': 'GC10M122162', 'score': 0.15}]
chr10 GH10I122258 122258302 122259475 0.69 [{'connected_gene': 'BTBD16', 'score': 42.09}, {'connected_gene': 'GC10M122162', 'score': 0.16}]
chr10 GH10I122344 122344066 122345596 1.04 [{'connected_gene': 'RNU6-728P', 'score': 550.77}, {'connected_gene': 'GC10P122346', 'score': 550.77}, {'connected_gene': 'ARMS2', 'score': 8.36}, {'connected_gene': 'PLEKHA1', 'score': 6.49}, {'connected_gene': 'BTBD16', 'score': 0.19}]
chr10 GH10I122197 122197938 122198147 0.54 [{'connected_gene': 'TACC2', 'score': 2.32}, {'connected_gene': 'GC10M122162', 'score': 0.29}, {'connected_gene': 'BTBD16', 'score': 0.19}]
chr10 GH10I122170 122170658 122173065 0.66 [{'connected_gene': 'GC10M122162', 'score': 0.44}, {'connected_gene': 'BTBD16', 'score': 0.15}, {'connected_gene': 'TACC2', 'score': 0.09}]
chr10 GH10I122177 122177859 122180148 0.43 [{'connected_gene': 'GC10M122162', 'score': 0.39}, {'connected_gene': 'BTBD16', 'score': 0.16}, {'connected_gene': 'TACC2', 'score': 0.09}]
chr10 GH10I122189 122189366 122189515 0.4 [{'connected_gene': 'GC10M122162', 'score': 0.31}, {'connected_gene': 'BTBD16', 'score': 0.18}, {'connected_gene': 'TACC2', 'score': 0.08}]
chr10 GH10I122191 122191897 122193510 0.4 [{'connected_gene': 'GC10M122162', 'score': 0.31}, {'connected_gene': 'BTBD16', 'score': 0.18}, {'connected_gene': 'TACC2', 'score': 0.08}]
chr10 GH10I122186 122186426 122188145 0.58 [{'connected_gene': 'GC10M122162', 'score': 0.34}, {'connected_gene': 'BTBD16', 'score': 0.18}, {'connected_gene': 'TACC2', 'score': 0.08}]
chr10 GH10I122176 122176306 122177332 0.8 [{'connected_gene': 'GC10M122162', 'score': 0.39}, {'connected_gene': 'BTBD16', 'score': 0.16}, {'connected_gene': 'TACC2', 'score': 0.09}]
chr10 GH10I122190 122190250 122191286 0.66 [{'connected_gene': 'GC10M122162', 'score': 0.31}, {'connected_gene': 'BTBD16', 'score': 0.18}, {'connected_gene': 'TACC2', 'score': 0.08}]
chr10 GH10I121947 121947758 121947917 0.22 [{'connected_gene': 'GC10M121947', 'score': 550.77}, {'connected_gene': 'ENSG00000273767', 'score': 550.77}, {'connected_gene': 'GC10M121946', 'score': 550.77}, {'connected_gene': 'ATE1-AS1', 'score': 28.84}, {'connected_gene': 'BTBD16', 'score': 17.27}, {'connected_gene': 'NSMCE4A', 'score': 12.59}, {'connected_gene': 'PLEKHA1', 'score': 5.92}]

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