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
ENST00000503326 [[139074441, 139074609], [139077041, 139077113], [139077585, 139077654], [139077839, 139077963]] [[139074519, 139074609], [139077041, 139077113], [139077585, 139077654], [139077839, 139077963]]
ENST00000333188 [[139076247, 139076800], [139077041, 139077113], [139077585, 139077654], [139077839, 139078020], [139078111, 139078204], [139079922, 139080137], [139081248, 139081359], [139085409, 139085617], [139085856, 139085987], [139086986, 139087130], [139088102, 139088209], [139088297, 139088386], [139090564, 139090675], [139092054, 139092254], [139092507, 139092650], [139093330, 139093430], [139094309, 139094456], [139096882, 139097031], [139097888, 139098015], [139098221, 139098308], [139102139, 139102277], [139108389, 139108574]] [[139076704, 139076800], [139077041, 139077113], [139077585, 139077654], [139077839, 139078020], [139078111, 139078204], [139079922, 139080137], [139081248, 139081359], [139085409, 139085617], [139085856, 139085987], [139086986, 139087130], [139088102, 139088209], [139088297, 139088386], [139090564, 139090675], [139092054, 139092254], [139092507, 139092650], [139093330, 139093430], [139094309, 139094456], [139096882, 139097031], [139097888, 139098015], [139098221, 139098308], [139102139, 139102277], [139108389, 139108392]]
ENST00000507777 [[139076434, 139076800], [139077041, 139077113], [139077585, 139077654], [139077839, 139078020], [139078111, 139078204], [139079922, 139080137], [139081248, 139081359], [139085409, 139085617], [139085856, 139085987], [139086986, 139087130], [139088102, 139088209], [139088297, 139088386], [139090564, 139090675], [139092054, 139092254], [139092507, 139092650], [139093330, 139093430], [139094309, 139094456], [139096882, 139097031], [139097888, 139098015], [139098221, 139098308], [139102139, 139102277], [139108472, 139108518]] [[139076704, 139076800], [139077041, 139077113], [139077585, 139077654], [139077839, 139078020], [139078111, 139078204], [139079922, 139080137], [139081248, 139081359], [139085409, 139085617], [139085856, 139085987], [139086986, 139087130], [139088102, 139088209], [139088297, 139088386], [139090564, 139090675], [139092054, 139092254], [139092507, 139092650], [139093330, 139093430], [139094309, 139094456], [139096882, 139097031], [139097888, 139098015], [139098221, 139098308], [139102139, 139102193]]
ENST00000502734 [[139076664, 139076800], [139077041, 139077585]] None
ENST00000512309 [[139076673, 139076778], [139085941, 139085987], [139086986, 139087130], [139088102, 139088209], [139088297, 139088386], [139090564, 139090638]] [[139076704, 139076778], [139085941, 139085987], [139086986, 139087130], [139088102, 139088209], [139088297, 139088386], [139090564, 139090638]]
ENST00000510181 [[139093081, 139093430], [139094309, 139094456], [139096882, 139097031], [139097888, 139098015], [139098221, 139098308], [139102139, 139102277], [139108389, 139108429]] None
ENST00000515006 [[139094439, 139094456], [139096882, 139096968], [139097888, 139098015], [139098221, 139098308], [139102139, 139102277], [139108389, 139108482]] [[139094439, 139094456], [139096882, 139096968], [139097888, 139098015], [139098221, 139098308], [139102139, 139102277], [139108389, 139108392]]
ENST00000512153 [[139096966, 139097031], [139097888, 139098015], [139098221, 139098308], [139102139, 139102277], [139108310, 139108522]] [[139096966, 139097031], [139097888, 139098015], [139098221, 139098308], [139102139, 139102193]]
ENST00000513274 [[139097888, 139098015], [139098221, 139098308], [139102139, 139102277], [139103845, 139104042], [139108310, 139108490]] [[139097888, 139098015], [139098221, 139098308], [139102139, 139102193]]
ENST00000512242 [[139097897, 139098015], [139098221, 139098308], [139102139, 139102277], [139103845, 139104271], [139108389, 139108468]] [[139097897, 139098015], [139098221, 139098308], [139102139, 139102193]]
ENST00000510491 [[139097917, 139098015], [139098221, 139098308], [139098613, 139098749], [139102139, 139102277], [139103845, 139104042], [139108389, 139108402]] None
ENST00000514508 [[139097925, 139098015], [139098221, 139098308], [139102139, 139102277], [139103845, 139104042], [139108389, 139108512]] [[139097925, 139098015], [139098221, 139098308], [139102139, 139102193]]
ENST00000504295 [[139098852, 139102277], [139108389, 139108488]] None
NR_023350 [[139076432, 139076800], [139077041, 139077113], [139077585, 139077654], [139077839, 139078020], [139078111, 139078204], [139079922, 139080137], [139081248, 139081359], [139085409, 139085617], [139085856, 139085987], [139086986, 139087130], [139088102, 139088209], [139088297, 139088386], [139090564, 139090675], [139092054, 139092254], [139092507, 139092650], [139093330, 139093430], [139094309, 139094456], [139096882, 139097031], [139097888, 139098015], [139098221, 139098308], [139102139, 139102277], [139108310, 139108522]] None
NM_004766 [[139076432, 139076800], [139077041, 139077113], [139077585, 139077654], [139077839, 139078020], [139078111, 139078204], [139079922, 139080137], [139081248, 139081359], [139085409, 139085617], [139085856, 139085987], [139086986, 139087130], [139088102, 139088209], [139088297, 139088386], [139090564, 139090675], [139092054, 139092254], [139092507, 139092650], [139093330, 139093430], [139094309, 139094456], [139096882, 139097031], [139097888, 139098015], [139098221, 139098308], [139102139, 139102277], [139108389, 139108522]] [[139076704, 139076800], [139077041, 139077113], [139077585, 139077654], [139077839, 139078020], [139078111, 139078204], [139079922, 139080137], [139081248, 139081359], [139085409, 139085617], [139085856, 139085987], [139086986, 139087130], [139088102, 139088209], [139088297, 139088386], [139090564, 139090675], [139092054, 139092254], [139092507, 139092650], [139093330, 139093430], [139094309, 139094456], [139096882, 139097031], [139097888, 139098015], [139098221, 139098308], [139102139, 139102277], [139108389, 139108392]]
Promoter
Chrom Start End Description
chr3 139108446 139108457 CAGE_peak_3_at_COPB2_5end
chr3 139108463 139108474 CAGE_peak_2_at_COPB2_5end
chr3 139108475 139108518 CAGE_peak_1_at_COPB2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I140245 140245079 140245208 0.2 [{'connected_gene': 'COPB2', 'score': 4.02}, {'connected_gene': 'GC03P140312', 'score': 0.2}, {'connected_gene': 'GC03P140133', 'score': 0.14}, {'connected_gene': 'GC03P140132', 'score': 0.14}, {'connected_gene': 'CLSTN2', 'score': 0.06}]
chr3 GH03I139531 139531274 139541929 2.34 [{'connected_gene': 'RBP1', 'score': 563.55}, {'connected_gene': 'COPB2', 'score': 19.45}, {'connected_gene': 'ENSG00000272656', 'score': 10.64}, {'connected_gene': 'LOC100507291', 'score': 9.75}, {'connected_gene': 'MRPS22', 'score': 4.1}, {'connected_gene': 'GC03M139507', 'score': 0.34}]
chr3 GH03I139343 139343379 139345436 2.01 [{'connected_gene': 'MRPS22', 'score': 555.87}, {'connected_gene': 'ENSG00000214280', 'score': 19.04}, {'connected_gene': 'CEP70', 'score': 18.46}, {'connected_gene': 'LOC100507291', 'score': 11.09}, {'connected_gene': 'COPB2', 'score': 11.09}, {'connected_gene': 'ENSG00000272656', 'score': 0.77}, {'connected_gene': 'PIR46128', 'score': 0.18}]
chr3 GH03I138767 138767150 138768613 0.76 [{'connected_gene': 'PIK3CB', 'score': 12.47}, {'connected_gene': 'DBR1', 'score': 11.47}, {'connected_gene': 'FAIM', 'score': 10.81}, {'connected_gene': 'CEP70', 'score': 10.68}, {'connected_gene': 'DZIP1L', 'score': 10.21}, {'connected_gene': 'ACTG1P1', 'score': 9.79}, {'connected_gene': 'COPB2', 'score': 9.65}, {'connected_gene': 'GAPDHP39', 'score': 0.44}, {'connected_gene': 'GC03P138644', 'score': 0.13}]
chr3 GH03I138860 138860777 138864579 1.73 [{'connected_gene': 'DBR1', 'score': 10.5}, {'connected_gene': 'COPB2', 'score': 10.28}, {'connected_gene': 'PIK3CB', 'score': 8.62}, {'connected_gene': 'FAIM', 'score': 8.15}, {'connected_gene': 'A4GNT', 'score': 4.47}, {'connected_gene': 'MRPS22', 'score': 2.34}, {'connected_gene': 'ATP5MC1P3', 'score': 0.31}]
chr3 GH03I138942 138942217 138948361 1.83 [{'connected_gene': 'FOXL2NB', 'score': 550.77}, {'connected_gene': 'LINC01391', 'score': 550.77}, {'connected_gene': 'FOXL2', 'score': 550.77}, {'connected_gene': 'DBR1', 'score': 28.08}, {'connected_gene': 'DZIP1L', 'score': 25.48}, {'connected_gene': 'ENSG00000272656', 'score': 11.16}, {'connected_gene': 'CEP70', 'score': 10.28}, {'connected_gene': 'ACTG1P1', 'score': 9.79}, {'connected_gene': 'COPB2', 'score': 9.67}, {'connected_gene': 'MRAS', 'score': 6.41}]
chr3 GH03I139354 139354059 139354208 0.63 [{'connected_gene': 'LOC100507291', 'score': 11.21}, {'connected_gene': 'COPB2', 'score': 11.21}, {'connected_gene': 'ACTG1P1', 'score': 5.0}, {'connected_gene': 'ENSG00000272656', 'score': 0.77}, {'connected_gene': 'ENSG00000283418', 'score': 0.29}, {'connected_gene': 'MRPS22', 'score': 0.05}]
chr3 GH03I139363 139363303 139363679 0.24 [{'connected_gene': 'LOC100507291', 'score': 11.91}, {'connected_gene': 'COPB2', 'score': 11.91}, {'connected_gene': 'PRR23A', 'score': 11.11}, {'connected_gene': 'PRR23B', 'score': 7.82}, {'connected_gene': 'PRR23C', 'score': 7.47}, {'connected_gene': 'ENSG00000272656', 'score': 5.59}, {'connected_gene': 'ENSG00000283418', 'score': 0.34}]
chr3 GH03I139388 139388036 139391197 2.04 [{'connected_gene': 'LOC100507291', 'score': 550.77}, {'connected_gene': 'COPB2', 'score': 550.77}, {'connected_gene': 'ENSG00000283418', 'score': 550.77}, {'connected_gene': 'ENSG00000272656', 'score': 17.69}, {'connected_gene': 'MRPS22', 'score': 5.87}, {'connected_gene': 'RBP1', 'score': 4.66}]
chr3 GH03I139427 139427679 139427808 0.69 [{'connected_gene': 'LOC100507291', 'score': 10.73}, {'connected_gene': 'COPB2', 'score': 10.09}, {'connected_gene': 'PIR39853', 'score': 0.39}]
chr3 GH03I139338 139338422 139341057 0.92 [{'connected_gene': 'ENSG00000272656', 'score': 16.85}, {'connected_gene': 'COPB2', 'score': 11.02}, {'connected_gene': 'LOC100507291', 'score': 11.0}, {'connected_gene': 'MRPS22', 'score': 5.54}, {'connected_gene': 'RBP1', 'score': 4.64}, {'connected_gene': 'PIR46128', 'score': 0.19}]
chr3 GH03I139345 139345443 139345710 0.45 [{'connected_gene': 'ENSG00000272656', 'score': 17.73}, {'connected_gene': 'LOC100507291', 'score': 11.07}, {'connected_gene': 'COPB2', 'score': 11.07}, {'connected_gene': 'MRPS22', 'score': 5.87}, {'connected_gene': 'PIR46128', 'score': 0.18}]
chr3 GH03I139448 139448974 139452026 0.77 [{'connected_gene': 'ENSG00000272656', 'score': 16.62}, {'connected_gene': 'LOC100507291', 'score': 9.82}, {'connected_gene': 'COPB2', 'score': 9.82}, {'connected_gene': 'PIR38286', 'score': 0.77}, {'connected_gene': 'ENSG00000248790', 'score': 0.37}]
chr3 GH03I139447 139447771 139448883 0.58 [{'connected_gene': 'PIR38286', 'score': 550.77}, {'connected_gene': 'LOC100507291', 'score': 9.64}, {'connected_gene': 'COPB2', 'score': 9.64}, {'connected_gene': 'ENSG00000248790', 'score': 0.37}]

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