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
ENST00000296449 [[49235860, 49235893], [49235974, 49236095], [49236322, 49236540], [49249198, 49249269], [49273980, 49274155], [49278658, 49278822], [49281836, 49281885], [49282078, 49282166], [49292822, 49292926], [49293566, 49295156]] [[49249213, 49249269], [49273980, 49274155], [49278658, 49278822], [49281836, 49281885], [49282078, 49282166], [49292822, 49292926], [49293566, 49294715]]
ENST00000438782 [[49236319, 49236540], [49249198, 49249269], [49273980, 49274155], [49278658, 49278822], [49281836, 49281885], [49282078, 49282166], [49292822, 49292926], [49293566, 49295537]] [[49249213, 49249269], [49273980, 49274155], [49278658, 49278822], [49281836, 49281885], [49282078, 49282166], [49292822, 49292926], [49293566, 49294715]]
ENST00000452691 [[49236932, 49237006], [49249198, 49249269], [49273980, 49274155], [49278658, 49278822], [49281836, 49281885], [49282078, 49282166], [49292822, 49292926], [49293566, 49295156]] [[49249213, 49249269], [49273980, 49274155], [49278658, 49278822], [49281836, 49281885], [49282078, 49282166], [49292822, 49292926], [49293566, 49294715]]
ENST00000366429 [[49236942, 49237006], [49249198, 49249269], [49273980, 49274155], [49278658, 49278822], [49282078, 49283172]] [[49249213, 49249269], [49273980, 49274155], [49278658, 49278822], [49282078, 49282295]]
ENST00000451634 [[49265750, 49265776], [49273980, 49274155], [49278658, 49278822], [49282078, 49283167]] [[49265750, 49265776], [49273980, 49274155], [49278658, 49278822], [49282078, 49282295]]
ENST00000493870 [[49237049, 49237302], [49273980, 49274007]] None
NM_178173 [[49235860, 49235893], [49235974, 49236095], [49236322, 49236540], [49249198, 49249269], [49273980, 49274155], [49278658, 49278822], [49281836, 49281885], [49282078, 49282166], [49292822, 49292926], [49293566, 49295537]] [[49249213, 49249269], [49273980, 49274155], [49278658, 49278822], [49281836, 49281885], [49282078, 49282166], [49292822, 49292926], [49293566, 49294715]]
NM_001135197 [[49236932, 49237006], [49249198, 49249269], [49273980, 49274155], [49278658, 49278822], [49281836, 49281885], [49282078, 49282166], [49292822, 49292926], [49293566, 49295537]] [[49249213, 49249269], [49273980, 49274155], [49278658, 49278822], [49281836, 49281885], [49282078, 49282166], [49292822, 49292926], [49293566, 49294715]]
Promoter
Chrom Start End Description
chr3 49236910 49236944 CAGE_peak_1_at_CCDC36_5end
chr3 49236949 49236974 CAGE_peak_2_at_CCDC36_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I049784 49784979 49788140 2.02 [{'connected_gene': 'IP6K1', 'score': 550.77}, {'connected_gene': 'CDHR4', 'score': 31.76}, {'connected_gene': 'QRICH1', 'score': 24.95}, {'connected_gene': 'USP19', 'score': 23.53}, {'connected_gene': 'FAM212A', 'score': 23.49}, {'connected_gene': 'CCDC36', 'score': 22.08}, {'connected_gene': 'ENSG00000225399', 'score': 21.22}, {'connected_gene': 'AMT', 'score': 20.38}, {'connected_gene': 'PRKAR2A', 'score': 12.95}, {'connected_gene': 'IMPDH2', 'score': 10.4}, {'connected_gene': 'ENSG00000235236', 'score': 10.3}, {'connected_gene': 'ARIH2', 'score': 9.99}, {'connected_gene': 'NAT6', 'score': 9.85}, {'connected_gene': 'C3orf18', 'score': 3.71}, {'connected_gene': 'GC03P049762', 'score': 0.34}, {'connected_gene': 'GC03P049763', 'score': 0.34}, {'connected_gene': 'GC03P049421', 'score': 0.05}]
chr3 GH03I050154 50154448 50173170 2.73 [{'connected_gene': 'SEMA3F', 'score': 560.53}, {'connected_gene': 'RBM6', 'score': 30.9}, {'connected_gene': 'RBM5', 'score': 15.13}, {'connected_gene': 'MON1A', 'score': 14.05}, {'connected_gene': 'GNAI2', 'score': 13.23}, {'connected_gene': 'HYAL3', 'score': 12.49}, {'connected_gene': 'CYB561D2', 'score': 10.14}, {'connected_gene': 'CCDC36', 'score': 6.35}, {'connected_gene': 'MAPKAPK3', 'score': 6.18}, {'connected_gene': 'KLHDC8B', 'score': 5.35}, {'connected_gene': 'DOCK3', 'score': 4.3}, {'connected_gene': 'IFRD2', 'score': 4.12}, {'connected_gene': 'HYAL2', 'score': 3.99}, {'connected_gene': 'TUSC2', 'score': 2.74}, {'connected_gene': 'MST1R', 'score': 2.4}, {'connected_gene': 'FAM212A', 'score': 2.21}, {'connected_gene': 'GMPPB', 'score': 1.37}, {'connected_gene': 'SEMA3F-AS1', 'score': 0.44}, {'connected_gene': 'GC03P050173', 'score': 0.44}]
chr3 GH03I048551 48551579 48566961 2.74 [{'connected_gene': 'PFKFB4', 'score': 551.86}, {'connected_gene': 'UCN2', 'score': 550.77}, {'connected_gene': 'TMA7', 'score': 37.63}, {'connected_gene': 'NME6', 'score': 29.47}, {'connected_gene': 'QRICH1', 'score': 23.29}, {'connected_gene': 'ATRIP', 'score': 22.64}, {'connected_gene': 'USP19', 'score': 21.6}, {'connected_gene': 'ZNF589', 'score': 16.52}, {'connected_gene': 'WDR6', 'score': 16.25}, {'connected_gene': 'TMEM89', 'score': 14.89}, {'connected_gene': 'MRPS18AP1', 'score': 14.81}, {'connected_gene': 'RHOA-IT1', 'score': 13.56}, {'connected_gene': 'CCDC71', 'score': 12.26}, {'connected_gene': 'COL7A1', 'score': 12.09}, {'connected_gene': 'ENSG00000244380', 'score': 11.23}, {'connected_gene': 'CCDC51', 'score': 11.11}, {'connected_gene': 'QARS', 'score': 10.85}, {'connected_gene': 'FBXW12', 'score': 10.36}, {'connected_gene': 'CDC25A', 'score': 9.84}, {'connected_gene': 'RNU7-128P', 'score': 9.16}, {'connected_gene': 'NDUFB1P1', 'score': 9.16}, {'connected_gene': 'TREX1', 'score': 6.93}, {'connected_gene': 'AMT', 'score': 5.89}, {'connected_gene': 'SLC26A6', 'score': 4.86}, {'connected_gene': 'ENSG00000272434', 'score': 4.29}, {'connected_gene': 'DALRD3', 'score': 3.93}, {'connected_gene': 'CCDC36', 'score': 3.78}, {'connected_gene': 'ARIH2', 'score': 3.57}, {'connected_gene': 'MIR6823', 'score': 0.44}]
chr3 GH03I048439 48439156 48442342 2.03 [{'connected_gene': 'TMA7', 'score': 613.05}, {'connected_gene': 'CCDC51', 'score': 550.77}, {'connected_gene': 'ATRIP', 'score': 34.15}, {'connected_gene': 'QRICH1', 'score': 24.95}, {'connected_gene': 'USP19', 'score': 23.53}, {'connected_gene': 'CCDC36', 'score': 22.08}, {'connected_gene': 'ENSG00000225399', 'score': 21.21}, {'connected_gene': 'NME6', 'score': 19.96}, {'connected_gene': 'SHISA5', 'score': 16.04}, {'connected_gene': 'PRKAR2A', 'score': 12.97}, {'connected_gene': 'DHX30', 'score': 11.19}, {'connected_gene': 'IMPDH2', 'score': 10.4}, {'connected_gene': 'ENSG00000235236', 'score': 10.3}, {'connected_gene': 'CDC25A', 'score': 10.22}, {'connected_gene': 'ARIH2', 'score': 10.01}, {'connected_gene': 'TMEM89', 'score': 10.0}, {'connected_gene': 'ZNF589', 'score': 3.96}, {'connected_gene': 'ENSG00000244380', 'score': 0.44}]
chr3 GH03I048500 48500527 48505575 1.97 [{'connected_gene': 'SHISA5', 'score': 563.02}, {'connected_gene': 'PIR48300', 'score': 550.77}, {'connected_gene': 'CCDC36', 'score': 3.59}, {'connected_gene': 'GC03M048464', 'score': 0.28}]
chr3 GH03I049248 49248202 49249657 1.18 [{'connected_gene': 'AMT', 'score': 41.11}, {'connected_gene': 'WDR6', 'score': 37.21}, {'connected_gene': 'USP4', 'score': 19.83}, {'connected_gene': 'C3orf62', 'score': 11.71}, {'connected_gene': 'LAMB2', 'score': 11.1}, {'connected_gene': 'KLHDC8B', 'score': 10.71}, {'connected_gene': 'CCDC71', 'score': 10.7}, {'connected_gene': 'DALRD3', 'score': 6.61}, {'connected_gene': 'RHOA', 'score': 3.57}, {'connected_gene': 'ARIH2', 'score': 2.91}, {'connected_gene': 'NDUFAF3', 'score': 1.27}, {'connected_gene': 'ENSG00000270538', 'score': 0.77}, {'connected_gene': 'PIR41977', 'score': 0.25}, {'connected_gene': 'CCDC36', 'score': 0.23}]
chr3 GH03I049170 49170417 49175414 2.04 [{'connected_gene': 'KLHDC8B', 'score': 550.77}, {'connected_gene': 'WDR6', 'score': 38.06}, {'connected_gene': 'AMT', 'score': 28.78}, {'connected_gene': 'CCDC36', 'score': 12.3}, {'connected_gene': 'LAMB2', 'score': 11.5}, {'connected_gene': 'C3orf62', 'score': 11.32}, {'connected_gene': 'USP4', 'score': 11.27}, {'connected_gene': 'QARS', 'score': 10.68}, {'connected_gene': 'C3orf84', 'score': 0.37}]
chr3 GH03I049005 49005824 49008933 2.27 [{'connected_gene': 'WDR6', 'score': 612.92}, {'connected_gene': 'ATRIP', 'score': 43.97}, {'connected_gene': 'QRICH1', 'score': 33.88}, {'connected_gene': 'USP19', 'score': 23.64}, {'connected_gene': 'CCDC36', 'score': 22.13}, {'connected_gene': 'ENSG00000225399', 'score': 21.26}, {'connected_gene': 'PRKAR2A', 'score': 13.03}, {'connected_gene': 'IMPDH2', 'score': 10.71}, {'connected_gene': 'ENSG00000235236', 'score': 10.61}, {'connected_gene': 'ARIH2', 'score': 10.13}, {'connected_gene': 'TMEM89', 'score': 9.97}, {'connected_gene': 'NME6', 'score': 9.88}, {'connected_gene': 'ZNF589', 'score': 9.88}, {'connected_gene': 'PIR62097', 'score': 0.44}, {'connected_gene': 'GC03P049079', 'score': 0.44}, {'connected_gene': 'P4HTM', 'score': 0.37}]
chr3 GH03I049265 49265022 49267639 0.72 [{'connected_gene': 'WDR6', 'score': 39.83}, {'connected_gene': 'QRICH1', 'score': 30.92}, {'connected_gene': 'AMT', 'score': 20.71}, {'connected_gene': 'RBM5', 'score': 16.63}, {'connected_gene': 'RBM6', 'score': 16.12}, {'connected_gene': 'SEMA3F-AS1', 'score': 14.61}, {'connected_gene': 'NME6', 'score': 14.28}, {'connected_gene': 'IP6K2', 'score': 14.21}, {'connected_gene': 'USP19', 'score': 14.08}, {'connected_gene': 'ATRIP', 'score': 13.03}, {'connected_gene': 'NICN1', 'score': 12.02}, {'connected_gene': 'ENSG00000235236', 'score': 11.66}, {'connected_gene': 'CCDC36', 'score': 11.53}, {'connected_gene': 'C3orf84', 'score': 11.52}, {'connected_gene': 'KLHDC8B', 'score': 11.17}, {'connected_gene': 'CCDC71', 'score': 11.17}, {'connected_gene': 'ENSG00000223343', 'score': 11.11}, {'connected_gene': 'RHOA-IT1', 'score': 10.87}, {'connected_gene': 'FCF1P2', 'score': 10.76}, {'connected_gene': 'LAMB2', 'score': 10.7}, {'connected_gene': 'RHOA', 'score': 10.48}, {'connected_gene': 'TCTA', 'score': 10.48}, {'connected_gene': 'P4HTM', 'score': 10.45}, {'connected_gene': 'QARS', 'score': 10.18}, {'connected_gene': 'BSN', 'score': 9.37}, {'connected_gene': 'BSN-AS2', 'score': 8.89}, {'connected_gene': 'ENSG00000199546', 'score': 0.77}, {'connected_gene': 'ENSG00000225399', 'score': 0.44}]
chr3 GH03I049256 49256013 49256877 0.2 [{'connected_gene': 'WDR6', 'score': 39.95}, {'connected_gene': 'ENSG00000225399', 'score': 0.77}, {'connected_gene': 'ENSG00000270538', 'score': 0.77}, {'connected_gene': 'CCDC36', 'score': 0.22}]
chr3 GH03I049237 49237729 49240672 1.53 [{'connected_gene': 'WDR6', 'score': 44.54}, {'connected_gene': 'AMT', 'score': 40.62}, {'connected_gene': 'IP6K2', 'score': 11.28}, {'connected_gene': 'TREX1', 'score': 10.46}, {'connected_gene': 'ZNF589', 'score': 9.98}, {'connected_gene': 'USP4', 'score': 7.75}, {'connected_gene': 'APEH', 'score': 6.58}, {'connected_gene': 'DALRD3', 'score': 6.2}, {'connected_gene': 'ENSG00000235236', 'score': 4.08}, {'connected_gene': 'RHOA', 'score': 3.35}, {'connected_gene': 'ARIH2', 'score': 2.49}, {'connected_gene': 'AMIGO3', 'score': 1.23}, {'connected_gene': 'ENSG00000270538', 'score': 0.39}, {'connected_gene': 'PIR41977', 'score': 0.28}, {'connected_gene': 'CCDC36', 'score': 0.26}]
chr3 GH03I049217 49217655 49219708 1.18 [{'connected_gene': 'WDR6', 'score': 48.15}, {'connected_gene': 'AMT', 'score': 40.31}, {'connected_gene': 'RBM5', 'score': 12.32}, {'connected_gene': 'CCDC36', 'score': 12.28}, {'connected_gene': 'C3orf84', 'score': 12.25}, {'connected_gene': 'P4HTM', 'score': 11.79}, {'connected_gene': 'C3orf62', 'score': 11.54}, {'connected_gene': 'USP4', 'score': 11.44}, {'connected_gene': 'KLHDC8B', 'score': 11.43}, {'connected_gene': 'CCDC71', 'score': 11.41}, {'connected_gene': 'RBM6', 'score': 11.4}, {'connected_gene': 'ENSG00000271973', 'score': 10.56}, {'connected_gene': 'ENSG00000223343', 'score': 10.53}, {'connected_gene': 'QARS', 'score': 10.32}, {'connected_gene': 'ZNF589', 'score': 10.31}, {'connected_gene': 'PIR41977', 'score': 0.37}, {'connected_gene': 'ENSG00000270538', 'score': 0.29}]
chr3 GH03I050149 50149900 50152223 1.23 [{'connected_gene': 'RBM6', 'score': 11.7}, {'connected_gene': 'CYB561D2', 'score': 10.07}, {'connected_gene': 'CCDC36', 'score': 6.22}, {'connected_gene': 'SEMA3F', 'score': 0.77}, {'connected_gene': 'SEMA3F-AS1', 'score': 0.44}, {'connected_gene': 'RBM5-AS1', 'score': 0.23}]
chr3 GH03I049198 49198350 49200310 1.31 [{'connected_gene': 'PIR41977', 'score': 550.77}, {'connected_gene': 'PIR48841', 'score': 550.77}, {'connected_gene': 'CCDC36', 'score': 550.77}, {'connected_gene': 'PIR33067', 'score': 550.77}, {'connected_gene': 'WDR6', 'score': 44.56}, {'connected_gene': 'AMT', 'score': 40.28}]
chr3 GH03I049255 49255210 49255437 0.46 [{'connected_gene': 'ENSG00000225399', 'score': 0.77}, {'connected_gene': 'ENSG00000270538', 'score': 0.77}, {'connected_gene': 'CCDC36', 'score': 0.22}]
chr3 GH03I049205 49205072 49205167 0.33 [{'connected_gene': 'PIR41977', 'score': 0.44}, {'connected_gene': 'CCDC36', 'score': 0.44}, {'connected_gene': 'ENSG00000270538', 'score': 0.25}]
chr3 GH03I048506 48506793 48508337 1.31 [{'connected_gene': 'GC03P048507', 'score': 550.77}, {'connected_gene': 'CCDC36', 'score': 3.63}, {'connected_gene': 'GC03P048510', 'score': 0.77}]
chr3 GH03I049244 49244601 49245442 0.86 [{'connected_gene': 'ENSG00000270538', 'score': 0.44}, {'connected_gene': 'PIR41977', 'score': 0.25}, {'connected_gene': 'CCDC36', 'score': 0.25}]
chr3 GH03I049269 49269028 49272284 0.38 [{'connected_gene': 'ENSG00000199546', 'score': 550.77}, {'connected_gene': 'AMT', 'score': 50.12}, {'connected_gene': 'WDR6', 'score': 39.95}, {'connected_gene': 'CCDC36', 'score': 11.25}, {'connected_gene': 'C3orf84', 'score': 11.24}, {'connected_gene': 'KLHDC8B', 'score': 11.21}, {'connected_gene': 'CCDC71', 'score': 11.21}, {'connected_gene': 'RNA5SP130', 'score': 10.96}, {'connected_gene': 'DAG1', 'score': 10.96}, {'connected_gene': 'LAMB2', 'score': 10.7}, {'connected_gene': 'RHOA', 'score': 10.48}, {'connected_gene': 'TCTA', 'score': 10.48}, {'connected_gene': 'QARS', 'score': 10.09}, {'connected_gene': 'QRICH1', 'score': 10.08}, {'connected_gene': 'BSN', 'score': 9.37}, {'connected_gene': 'BSN-AS2', 'score': 9.07}, {'connected_gene': 'MIR4271', 'score': 0.77}, {'connected_gene': 'C3orf62', 'score': 0.44}]
chr3 GH03I049855 49855713 49857275 1.95 [{'connected_gene': 'GC03M049859', 'score': 550.77}, {'connected_gene': 'GC03M049858', 'score': 550.77}, {'connected_gene': 'TRAIP', 'score': 550.77}, {'connected_gene': 'QRICH1', 'score': 43.47}, {'connected_gene': 'USP19', 'score': 38.41}, {'connected_gene': 'CDHR4', 'score': 27.83}, {'connected_gene': 'CCDC36', 'score': 22.08}, {'connected_gene': 'ENSG00000225399', 'score': 21.22}, {'connected_gene': 'SEMA3F-AS1', 'score': 14.73}, {'connected_gene': 'RBM6', 'score': 14.62}, {'connected_gene': 'RBM5', 'score': 13.81}, {'connected_gene': 'RHOA-IT1', 'score': 13.57}, {'connected_gene': 'TMEM115', 'score': 12.88}, {'connected_gene': 'RASSF1', 'score': 12.34}, {'connected_gene': 'CCDC71', 'score': 12.26}, {'connected_gene': 'QARS', 'score': 10.84}, {'connected_gene': 'IMPDH2', 'score': 10.4}, {'connected_gene': 'ENSG00000235236', 'score': 10.3}, {'connected_gene': 'ARIH2', 'score': 9.99}, {'connected_gene': 'NAT6', 'score': 9.86}, {'connected_gene': 'HEMK1', 'score': 9.68}, {'connected_gene': 'UBA7', 'score': 0.26}, {'connected_gene': 'GC03P049762', 'score': 0.16}, {'connected_gene': 'GC03P049763', 'score': 0.16}, {'connected_gene': 'GC03P049421', 'score': 0.05}]

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