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
ENST00000398178 [[123537482, 123539885], [123542631, 123542667], [123545237, 123545276], [123573556, 123573580], [123576225, 123576270], [123577011, 123577047], [123580768, 123580807], [123581756, 123581783], [123586462, 123586483], [123588851, 123588896], [123590993, 123591011], [123592283, 123592331], [123594108, 123594156], [123594481, 123594508], [123595785, 123595815], [123599462, 123599492], [123600200, 123600227], [123637601, 123637640], [123653023, 123653074], [123658763, 123658814], [123673683, 123673731], [123687279, 123687327], [123696749, 123696776], [123698860, 123698887], [123699010, 123699043], [123702514, 123702535], [123703262, 123703292], [123709666, 123709696], [123714768, 123714822], [123759207, 123759267], [123760088, 123760148], [123786050, 123786128], [123818337, 123818397], [123824863, 123825046], [123833447, 123833507], [123837285, 123837351], [123851650, 123851710], [123868484, 123868517], [123869598, 123869757], [123892067, 123892277], [123957898, 123957942]] [[123539745, 123539885], [123542631, 123542667], [123545237, 123545276], [123573556, 123573580], [123576225, 123576270], [123577011, 123577047], [123580768, 123580807], [123581756, 123581783], [123586462, 123586483], [123588851, 123588896], [123590993, 123591011], [123592283, 123592331], [123594108, 123594156], [123594481, 123594508], [123595785, 123595815], [123599462, 123599492], [123600200, 123600227], [123637601, 123637640], [123653023, 123653074], [123658763, 123658814], [123673683, 123673731], [123687279, 123687327], [123696749, 123696776], [123698860, 123698887], [123699010, 123699043], [123702514, 123702535], [123703262, 123703292], [123709666, 123709696], [123714768, 123714822], [123759207, 123759267], [123760088, 123760148], [123786050, 123786128], [123818337, 123818397], [123824863, 123825046], [123833447, 123833507], [123837285, 123837351], [123851650, 123851710], [123868484, 123868517], [123869598, 123869757], [123892067, 123892277], [123957898, 123957920]]
ENST00000334268 [[123537483, 123539885], [123542631, 123542667], [123545237, 123545276], [123576225, 123576270], [123577011, 123577047], [123580768, 123580807], [123581756, 123581783], [123586462, 123586483], [123588851, 123588896], [123590993, 123591011], [123592283, 123592331], [123594108, 123594156], [123594481, 123594508], [123595785, 123595815], [123599462, 123599492], [123600200, 123600227], [123637601, 123637640], [123653023, 123653074], [123658763, 123658814], [123673683, 123673731], [123687279, 123687327], [123696749, 123696776], [123698860, 123698887], [123699010, 123699043], [123702514, 123702535], [123703262, 123703292], [123709666, 123709696], [123714768, 123714822], [123759207, 123759267], [123760088, 123760148], [123786050, 123786128], [123818337, 123818397], [123824863, 123825046], [123833447, 123833507], [123837285, 123837351], [123851650, 123851710], [123868484, 123868517], [123869598, 123869757], [123892067, 123892277], [123957898, 123958238]] [[123539745, 123539885], [123542631, 123542667], [123545237, 123545276], [123576225, 123576270], [123577011, 123577047], [123580768, 123580807], [123581756, 123581783], [123586462, 123586483], [123588851, 123588896], [123590993, 123591011], [123592283, 123592331], [123594108, 123594156], [123594481, 123594508], [123595785, 123595815], [123599462, 123599492], [123600200, 123600227], [123637601, 123637640], [123653023, 123653074], [123658763, 123658814], [123673683, 123673731], [123687279, 123687327], [123696749, 123696776], [123698860, 123698887], [123699010, 123699043], [123702514, 123702535], [123703262, 123703292], [123709666, 123709696], [123714768, 123714822], [123759207, 123759267], [123760088, 123760148], [123786050, 123786128], [123818337, 123818397], [123824863, 123825046], [123833447, 123833507], [123837285, 123837351], [123851650, 123851710], [123868484, 123868517], [123869598, 123869757], [123892067, 123892277], [123957898, 123957920]]
ENST00000546248 [[123785397, 123786128], [123824863, 123825046], [123833447, 123833507], [123837285, 123837351], [123851650, 123851710], [123868484, 123868517], [123869598, 123869757], [123892067, 123892277], [123957898, 123958054]] [[123786027, 123786128], [123824863, 123825046], [123833447, 123833507], [123837285, 123837351], [123851650, 123851710], [123868484, 123868517], [123869598, 123869757], [123892067, 123892277], [123957898, 123957920]]
ENST00000542443 [[123849827, 123850438], [123851650, 123851710], [123868484, 123868517], [123869598, 123869757], [123892067, 123892277], [123957898, 123958117]] [[123850418, 123850438], [123851650, 123851710], [123868484, 123868517], [123869598, 123869757], [123892067, 123892277], [123957898, 123957920]]
ENST00000361029 [[123819333, 123819790], [123824863, 123825046], [123833447, 123833507], [123837285, 123837351]] [[123819644, 123819790], [123824863, 123825046], [123833447, 123833507], [123837285, 123837351]]
ENST00000359698 [[123849732, 123850438], [123851650, 123851710]] [[123850418, 123850438], [123851650, 123851710]]
ENST00000422596 [[123849858, 123850574], [123851650, 123851710]] [[123850500, 123850574], [123851650, 123851710]]
NM_006073 [[123537483, 123539885], [123542631, 123542667], [123545237, 123545276], [123573556, 123573580], [123576225, 123576270], [123577011, 123577047], [123580768, 123580807], [123581756, 123581783], [123586462, 123586483], [123588851, 123588896], [123590993, 123591011], [123592283, 123592331], [123594108, 123594156], [123594481, 123594508], [123595785, 123595815], [123599462, 123599492], [123600200, 123600227], [123637601, 123637640], [123653023, 123653074], [123658763, 123658814], [123673683, 123673731], [123687279, 123687327], [123696749, 123696776], [123698860, 123698887], [123699010, 123699043], [123702514, 123702535], [123703262, 123703292], [123709666, 123709696], [123714768, 123714822], [123759207, 123759267], [123760088, 123760148], [123786050, 123786128], [123818337, 123818397], [123824863, 123825046], [123833447, 123833507], [123837285, 123837351], [123851650, 123851710], [123868484, 123868517], [123869598, 123869757], [123892067, 123892277], [123957898, 123958238]] [[123539745, 123539885], [123542631, 123542667], [123545237, 123545276], [123573556, 123573580], [123576225, 123576270], [123577011, 123577047], [123580768, 123580807], [123581756, 123581783], [123586462, 123586483], [123588851, 123588896], [123590993, 123591011], [123592283, 123592331], [123594108, 123594156], [123594481, 123594508], [123595785, 123595815], [123599462, 123599492], [123600200, 123600227], [123637601, 123637640], [123653023, 123653074], [123658763, 123658814], [123673683, 123673731], [123687279, 123687327], [123696749, 123696776], [123698860, 123698887], [123699010, 123699043], [123702514, 123702535], [123703262, 123703292], [123709666, 123709696], [123714768, 123714822], [123759207, 123759267], [123760088, 123760148], [123786050, 123786128], [123818337, 123818397], [123824863, 123825046], [123833447, 123833507], [123837285, 123837351], [123851650, 123851710], [123868484, 123868517], [123869598, 123869757], [123892067, 123892277], [123957898, 123957920]]
NM_001251987 [[123670619, 123673731], [123687279, 123687327], [123696749, 123696776], [123698860, 123698887], [123699010, 123699043], [123702514, 123702535], [123703262, 123703292], [123709666, 123709696], [123714768, 123714822], [123759207, 123759270], [123760088, 123760148], [123786050, 123786128], [123818337, 123818397], [123824863, 123825046], [123833447, 123833507], [123837285, 123837351], [123851650, 123851710], [123868484, 123868517], [123869598, 123869757], [123892067, 123892277], [123957898, 123958238]] [[123673669, 123673731], [123687279, 123687327], [123696749, 123696776], [123698860, 123698887], [123699010, 123699043], [123702514, 123702535], [123703262, 123703292], [123709666, 123709696], [123714768, 123714822], [123759207, 123759270], [123760088, 123760148], [123786050, 123786128], [123818337, 123818397], [123824863, 123825046], [123833447, 123833507], [123837285, 123837351], [123851650, 123851710], [123868484, 123868517], [123869598, 123869757], [123892067, 123892277], [123957898, 123957920]]
NM_001256020 [[123785394, 123786128], [123824863, 123825046], [123833447, 123833507], [123837285, 123837351], [123851650, 123851710], [123868484, 123868517], [123869598, 123869757], [123892067, 123892277], [123957898, 123958238]] [[123786027, 123786128], [123824863, 123825046], [123833447, 123833507], [123837285, 123837351], [123851650, 123851710], [123868484, 123868517], [123869598, 123869757], [123892067, 123892277], [123957898, 123957920]]
NM_001256021 [[123822972, 123825046], [123833447, 123833507], [123837285, 123837351], [123851650, 123851710], [123868484, 123868517], [123869598, 123869757], [123892067, 123892277], [123957898, 123958238]] [[123824795, 123825046], [123833447, 123833507], [123837285, 123837351], [123851650, 123851710], [123868484, 123868517], [123869598, 123869757], [123892067, 123892277], [123957898, 123957920]]
NM_001256022 [[123849827, 123850438], [123851650, 123851710], [123868484, 123868517], [123869598, 123869757], [123892067, 123892277], [123957898, 123958238]] [[123850418, 123850438], [123851650, 123851710], [123868484, 123868517], [123869598, 123869757], [123892067, 123892277], [123957898, 123957920]]
Promoter
Chrom Start End Description
chr6 123714804 123714818 CAGE_peak_8_at_TRDN_5end
chr6 123957986 123957997 CAGE_peak_5_at_TRDN_5end
chr6 123958051 123958058 CAGE_peak_4_at_TRDN_5end
chr6 123958068 123958110 CAGE_peak_1_at_TRDN_5end
chr6 123958111 123958139 CAGE_peak_2_at_TRDN_5end
chr6 123958141 123958179 CAGE_peak_3_at_TRDN_5end
chr6 123958371 123958380 CAGE_peak_12_at_TRDN_5end
chr6 123958389 123958400 CAGE_peak_9_at_TRDN_5end
chr6 123958410 123958421 CAGE_peak_6_at_TRDN_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I123802 123802156 123803213 1.4 [{'connected_gene': 'NKAIN2', 'score': 550.77}, {'connected_gene': 'TRDN', 'score': 0.1}]
chr6 GH06I123803 123803396 123804001 1.3 [{'connected_gene': 'NKAIN2', 'score': 550.77}, {'connected_gene': 'TRDN', 'score': 0.1}]
chr6 GH06I123769 123769076 123770060 0.38 [{'connected_gene': 'NKAIN2', 'score': 0.29}, {'connected_gene': 'TRDN', 'score': 0.12}]
chr6 GH06I123770 123770396 123770545 0.57 [{'connected_gene': 'NKAIN2', 'score': 0.29}, {'connected_gene': 'TRDN', 'score': 0.12}]
chr6 GH06I122712 122710200 122710401 0.99 [{'connected_gene': 'SMPDL3A', 'score': 10.32}, {'connected_gene': 'PKIB', 'score': 8.72}, {'connected_gene': 'TRDN', 'score': 4.28}, {'connected_gene': 'RN7SL564P', 'score': 0.29}, {'connected_gene': 'ENSG00000272472', 'score': 0.2}]
chr6 GH06I123529 123529801 123530144 0.74 [{'connected_gene': 'LOC105377982', 'score': 0.39}, {'connected_gene': 'LOC105377981', 'score': 0.18}, {'connected_gene': 'TRDN', 'score': 0.14}]
chr6 GH06I123518 123518362 123519490 0.2 [{'connected_gene': 'LOC105377982', 'score': 550.77}, {'connected_gene': 'TRDN-AS1', 'score': 0.13}, {'connected_gene': 'TRDN', 'score': 0.13}]
chr6 GH06I123588 123587456 123587717 0.2 [{'connected_gene': 'LOC105377981', 'score': 0.34}, {'connected_gene': 'TRDN', 'score': 0.25}, {'connected_gene': 'LOC105377982', 'score': 0.2}]
chr6 GH06I123614 123614988 123625409 0.38 [{'connected_gene': 'LOC105377981', 'score': 0.44}, {'connected_gene': 'TRDN', 'score': 0.37}]
chr6 GH06I123660 123660465 123663968 0.38 [{'connected_gene': 'TRDN', 'score': 11.41}, {'connected_gene': 'LOC105377981', 'score': 0.23}, {'connected_gene': 'NKAIN2', 'score': 0.11}]
chr6 GH06I123655 123655402 123656199 0.63 [{'connected_gene': 'TRDN', 'score': 0.37}, {'connected_gene': 'LOC105377981', 'score': 0.25}, {'connected_gene': 'NKAIN2', 'score': 0.11}]
chr6 GH06I123587 123587913 123590417 0.49 [{'connected_gene': 'TRDN', 'score': 11.15}, {'connected_gene': 'LOC105377981', 'score': 0.34}, {'connected_gene': 'LOC105377982', 'score': 0.2}]
chr6 GH06I123603 123603617 123605048 0.31 [{'connected_gene': 'TRDN', 'score': 11.26}, {'connected_gene': 'LOC105377981', 'score': 0.44}, {'connected_gene': 'LOC105377982', 'score': 0.18}]
chr6 GH06I123635 123635333 123635425 0.4 [{'connected_gene': 'TRDN', 'score': 550.77}, {'connected_gene': 'LOC105377981', 'score': 0.34}]
chr6 GH06I123636 123635876 123637087 0.9 [{'connected_gene': 'TRDN', 'score': 550.77}, {'connected_gene': 'LOC105377981', 'score': 0.31}]
chr6 GH06I123628 123628886 123630238 0.38 [{'connected_gene': 'TRDN', 'score': 4.75}, {'connected_gene': 'LOC105377981', 'score': 0.37}]
chr6 GH06I123637 123637135 123637194 0.7 [{'connected_gene': 'TRDN', 'score': 550.77}, {'connected_gene': 'LOC105377981', 'score': 0.31}]