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
ENST00000261497 [[20902909, 20906386], [20907514, 20907664], [20908240, 20908303], [20910208, 20910300], [20911182, 20911309], [20914463, 20914622], [20916142, 20916248], [20919064, 20919212], [20921254, 20921424], [20922396, 20922498], [20924425, 20924539], [20931854, 20931987], [20945977, 20946352]] [[20906343, 20906386], [20907514, 20907664], [20908240, 20908303], [20910208, 20910300], [20911182, 20911309], [20914463, 20914622], [20916142, 20916248], [20919064, 20919212], [20921254, 20921424], [20922396, 20922498], [20924425, 20924539], [20931854, 20931987], [20945977, 20946148]]
ENST00000537526 [[20902909, 20906386], [20907514, 20907664], [20908240, 20908303], [20910208, 20910300], [20911182, 20911309], [20914463, 20914622], [20916142, 20916248], [20919064, 20919212], [20921254, 20921424], [20922396, 20922498], [20924425, 20924539], [20931854, 20931987], [20946938, 20947073]] [[20906343, 20906386], [20907514, 20907664], [20908240, 20908303], [20910208, 20910300], [20911182, 20911309], [20914463, 20914622], [20916142, 20916248], [20919064, 20919212], [20921254, 20921424], [20922396, 20922498], [20924425, 20924539], [20931854, 20931987], [20946938, 20947073]]
ENST00000455117 [[20905687, 20906155], [20924518, 20924539], [20931854, 20931987], [20946633, 20946688]] None
ENST00000579645 [[20906284, 20906386], [20907514, 20907664], [20908240, 20908303], [20910208, 20910300], [20911182, 20911309], [20914463, 20914622], [20916142, 20916248], [20919064, 20919212], [20921254, 20921424], [20922396, 20922498], [20924425, 20924539], [20931854, 20931987], [20946633, 20947073]] [[20924527, 20924539], [20931854, 20931987], [20946633, 20947073]]
ENST00000463692 [[20907532, 20907664], [20908240, 20908463]] None
ENST00000478443 [[20909820, 20910300], [20911182, 20911309], [20914463, 20914927]] None
ENST00000582335 [[20914542, 20914622], [20921254, 20921424], [20922396, 20922452]] [[20914542, 20914622], [20921254, 20921424], [20922396, 20922452]]
ENST00000577610 [[20916142, 20916248], [20919064, 20919212], [20921254, 20921424], [20921514, 20921654]] None
ENST00000578446 [[20918963, 20919212], [20921254, 20921424], [20922396, 20922498], [20924425, 20924509]] None
ENST00000476111 [[20921254, 20921424], [20922396, 20922498], [20924425, 20924539], [20931854, 20931987], [20945532, 20945586]] [[20921254, 20921424], [20922396, 20922498], [20924425, 20924528]]
ENST00000584538 [[20921308, 20921424], [20922396, 20922498], [20924425, 20924539], [20931854, 20931987], [20946633, 20946722]] [[20921308, 20921424], [20922396, 20922498], [20924425, 20924528]]
NM_015276 [[20902905, 20906386], [20907514, 20907664], [20908240, 20908303], [20910208, 20910300], [20911182, 20911309], [20914463, 20914622], [20916142, 20916248], [20919064, 20919212], [20921254, 20921424], [20922396, 20922498], [20924425, 20924539], [20931854, 20931987], [20945977, 20946352]] [[20906343, 20906386], [20907514, 20907664], [20908240, 20908303], [20910208, 20910300], [20911182, 20911309], [20914463, 20914622], [20916142, 20916248], [20919064, 20919212], [20921254, 20921424], [20922396, 20922498], [20924425, 20924539], [20931854, 20931987], [20945977, 20946148]]
Promoter
Chrom Start End Description
chr17 20904353 20904356 CAGE_peak_5_at_USP22_5end
chr17 20904385 20904440 CAGE_peak_6_at_USP22_5end
chr17 20904647 20904680 CAGE_peak_7_at_USP22_5end
chr17 20946229 20946255 CAGE_peak_4_at_USP22_5end
chr17 20946258 20946337 CAGE_peak_1_at_USP22_5end
chr17 20946338 20946369 CAGE_peak_2_at_USP22_5end
chr17 20946371 20946389 CAGE_peak_3_at_USP22_5end
chr17 20946710 20946737 CAGE_peak_8_at_USP22_5end
chr17 20946738 20946751 CAGE_peak_11_at_USP22_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I021192 21192328 21193448 0.63 [{'connected_gene': 'TMEM11', 'score': 13.25}, {'connected_gene': 'ENSG00000235530', 'score': 13.25}, {'connected_gene': 'DHRS7B', 'score': 6.59}, {'connected_gene': 'FAM106B', 'score': 5.42}, {'connected_gene': 'USP22', 'score': 3.96}, {'connected_gene': 'GC17M021160', 'score': 0.29}]
chr17 GH17I021131 21131227 21131500 0.77 [{'connected_gene': 'TMEM11', 'score': 11.81}, {'connected_gene': 'ENSG00000235530', 'score': 11.81}, {'connected_gene': 'USP22', 'score': 11.1}, {'connected_gene': 'NATD1', 'score': 4.38}, {'connected_gene': 'MAP2K3', 'score': 3.6}, {'connected_gene': 'DHRS7B', 'score': 0.44}, {'connected_gene': 'GC17M021160', 'score': 0.29}]
chr17 GH17I021051 21051401 21052988 1.05 [{'connected_gene': 'CCDC144NL-AS1', 'score': 29.94}, {'connected_gene': 'USP22', 'score': 16.09}, {'connected_gene': 'DHRS7B', 'score': 11.56}, {'connected_gene': 'LINC01563', 'score': 0.34}]
chr17 GH17I021010 21010179 21017607 0.38 [{'connected_gene': 'CCDC144NL-AS1', 'score': 31.25}, {'connected_gene': 'USP22', 'score': 29.95}, {'connected_gene': 'DHRS7B', 'score': 10.66}, {'connected_gene': 'PIR42715', 'score': 0.44}, {'connected_gene': 'PIR42920', 'score': 0.44}]
chr17 GH17I021031 21031876 21036400 1.18 [{'connected_gene': 'CCDC144NL-AS1', 'score': 30.21}, {'connected_gene': 'USP22', 'score': 14.96}, {'connected_gene': 'DHRS7B', 'score': 11.46}, {'connected_gene': 'PIR42715', 'score': 0.39}]
chr17 GH17I021006 21006644 21008904 0.38 [{'connected_gene': 'CCDC144NL-AS1', 'score': 31.82}, {'connected_gene': 'USP22', 'score': 27.72}, {'connected_gene': 'PIR42920', 'score': 0.77}, {'connected_gene': 'PIR42715', 'score': 0.39}]
chr17 GH17I021023 21023623 21024772 0.2 [{'connected_gene': 'CCDC144NL-AS1', 'score': 30.07}, {'connected_gene': 'USP22', 'score': 16.18}, {'connected_gene': 'PIR42715', 'score': 0.77}]
chr17 GH17I021053 21053768 21053777 0.46 [{'connected_gene': 'DHRS7B', 'score': 11.57}, {'connected_gene': 'USP22', 'score': 0.39}, {'connected_gene': 'LINC01563', 'score': 0.34}]
chr17 GH17I021028 21028442 21030225 0.63 [{'connected_gene': 'DHRS7B', 'score': 11.25}, {'connected_gene': 'PIR42715', 'score': 0.44}, {'connected_gene': 'USP22', 'score': 0.39}]
chr17 GH17I021037 21037401 21037600 0.74 [{'connected_gene': 'DHRS7B', 'score': 10.99}, {'connected_gene': 'USP22', 'score': 0.44}, {'connected_gene': 'PIR42715', 'score': 0.37}]
chr17 GH17I021114 21113261 21114246 0.31 [{'connected_gene': 'USP22', 'score': 11.89}, {'connected_gene': 'DHRS7B', 'score': 0.44}, {'connected_gene': 'LINC01563', 'score': 0.28}]
chr17 GH17I021113 21113001 21113200 0.31 [{'connected_gene': 'USP22', 'score': 11.89}, {'connected_gene': 'DHRS7B', 'score': 0.39}, {'connected_gene': 'LINC01563', 'score': 0.28}]
chr17 GH17I021039 21039525 21045015 2.59 [{'connected_gene': 'USP22', 'score': 583.63}, {'connected_gene': 'MEIS3P2', 'score': 61.44}, {'connected_gene': 'UPF3AP2', 'score': 50.32}, {'connected_gene': 'ENSG00000266050', 'score': 34.95}, {'connected_gene': 'CCDC144NL-AS1', 'score': 30.09}, {'connected_gene': 'DHRS7B', 'score': 11.0}, {'connected_gene': 'RPL21P120', 'score': 10.87}, {'connected_gene': 'C17orf51', 'score': 9.89}, {'connected_gene': 'USP32P3', 'score': 3.9}, {'connected_gene': 'PIR42715', 'score': 0.34}]
chr17 GH17I021072 21072591 21073356 0.38 [{'connected_gene': 'USP22', 'score': 20.55}, {'connected_gene': 'MEIS3P2', 'score': 4.85}, {'connected_gene': 'LINC01563', 'score': 0.77}]
chr17 GH17I020934 20934208 20937600 1.12 [{'connected_gene': 'USP22', 'score': 11.66}, {'connected_gene': 'AKAP10', 'score': 9.65}, {'connected_gene': 'ENSG00000266369', 'score': 7.52}, {'connected_gene': 'CCDC144NL-AS1', 'score': 6.35}, {'connected_gene': 'DHRS7B', 'score': 4.33}, {'connected_gene': 'ENSG00000265099', 'score': 0.77}, {'connected_gene': 'LOC105369205', 'score': 0.39}]
chr17 GH17I020197 20197340 20198733 0.38 [{'connected_gene': 'AKAP10', 'score': 26.42}, {'connected_gene': 'LGALS9B', 'score': 15.85}, {'connected_gene': 'NOS2P3', 'score': 13.39}, {'connected_gene': 'USP22', 'score': 11.54}, {'connected_gene': 'PIR41266', 'score': 0.44}, {'connected_gene': 'ENSG00000263494', 'score': 0.39}, {'connected_gene': 'SPECC1', 'score': 0.09}]
chr17 GH17I021075 21075101 21076348 0.2 [{'connected_gene': 'LINC01563', 'score': 561.16}, {'connected_gene': 'USP22', 'score': 12.18}, {'connected_gene': 'CCDC144NL-AS1', 'score': 8.07}, {'connected_gene': 'DHRS7B', 'score': 0.25}]
chr17 GH17I020978 20978625 20979778 0.69 [{'connected_gene': 'PIR46518', 'score': 550.77}, {'connected_gene': 'CCDC144NL-AS1', 'score': 18.3}, {'connected_gene': 'USP22', 'score': 10.37}, {'connected_gene': 'ENSG00000266009', 'score': 0.77}, {'connected_gene': 'ENSG00000264660', 'score': 0.37}, {'connected_gene': 'LOC339260', 'score': 0.26}, {'connected_gene': 'LOC105369205', 'score': 0.22}]
chr17 GH17I020997 20997908 20998297 0.88 [{'connected_gene': 'PIR46768', 'score': 550.77}, {'connected_gene': 'PIR39072', 'score': 550.77}, {'connected_gene': 'PIR63018', 'score': 550.77}, {'connected_gene': 'PIR61707', 'score': 550.77}, {'connected_gene': 'USP22', 'score': 13.12}, {'connected_gene': 'CCDC144NL-AS1', 'score': 8.09}, {'connected_gene': 'LOC105369205', 'score': 0.18}]
chr17 GH17I020992 20992588 20993662 1.03 [{'connected_gene': 'PIR33993', 'score': 550.77}, {'connected_gene': 'PIR44063', 'score': 550.77}, {'connected_gene': 'USP22', 'score': 10.66}, {'connected_gene': 'CCDC144NL-AS1', 'score': 10.42}, {'connected_gene': 'LOC105369205', 'score': 0.19}]
chr17 GH17I021002 21001528 21001677 0.51 [{'connected_gene': 'PIR46768', 'score': 550.77}, {'connected_gene': 'PIR47414', 'score': 550.77}, {'connected_gene': 'PIR40109', 'score': 550.77}, {'connected_gene': 'PIR34817', 'score': 550.77}, {'connected_gene': 'PIR40657', 'score': 550.77}, {'connected_gene': 'GC17M021058', 'score': 550.77}, {'connected_gene': 'PIR52999', 'score': 550.77}, {'connected_gene': 'PIR37561', 'score': 550.77}, {'connected_gene': 'PIR43745', 'score': 550.77}, {'connected_gene': 'PIR46192', 'score': 550.77}, {'connected_gene': 'USP22', 'score': 0.26}, {'connected_gene': 'CCDC144NL-AS1', 'score': 0.12}]
chr17 GH17I021001 21001188 21001337 0.4 [{'connected_gene': 'PIR46768', 'score': 550.77}, {'connected_gene': 'PIR47414', 'score': 550.77}, {'connected_gene': 'PIR40109', 'score': 550.77}, {'connected_gene': 'PIR34817', 'score': 550.77}, {'connected_gene': 'PIR40657', 'score': 550.77}, {'connected_gene': 'GC17M021058', 'score': 550.77}, {'connected_gene': 'PIR52999', 'score': 550.77}, {'connected_gene': 'PIR37561', 'score': 550.77}, {'connected_gene': 'PIR43745', 'score': 550.77}, {'connected_gene': 'PIR46192', 'score': 550.77}, {'connected_gene': 'USP22', 'score': 0.26}, {'connected_gene': 'CCDC144NL-AS1', 'score': 0.12}]
chr17 GH17I020998 20998868 20998957 0.51 [{'connected_gene': 'PIR46768', 'score': 550.77}, {'connected_gene': 'PIR39072', 'score': 550.77}, {'connected_gene': 'PIR63018', 'score': 550.77}, {'connected_gene': 'PIR61707', 'score': 550.77}, {'connected_gene': 'USP22', 'score': 6.17}, {'connected_gene': 'LOC105369205', 'score': 0.18}, {'connected_gene': 'CCDC144NL-AS1', 'score': 0.12}]
chr17 GH17I021003 21003929 21006397 0.56 [{'connected_gene': 'PIR42920', 'score': 550.77}, {'connected_gene': 'USP22', 'score': 17.13}, {'connected_gene': 'PIR42715', 'score': 0.37}]
chr17 GH17I021020 21020308 21020457 0.66 [{'connected_gene': 'PIR42715', 'score': 550.77}, {'connected_gene': 'USP22', 'score': 27.69}, {'connected_gene': 'PIR42920', 'score': 0.37}]