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
ENST00000596019 [[20107866, 20108072], [20133812, 20133908], [20135058, 20135185], [20150151, 20150274]] [[20108049, 20108072], [20133812, 20133908], [20135058, 20135185], [20150151, 20150154]]
ENST00000397162 [[20115226, 20118084], [20133812, 20133908], [20135058, 20135185], [20149981, 20150064]] [[20116813, 20118084], [20133812, 20133908], [20135058, 20135092]]
ENST00000397165 [[20115226, 20118084], [20133812, 20133908], [20135058, 20135185], [20150151, 20150315]] [[20116813, 20118084], [20133812, 20133908], [20135058, 20135185], [20150151, 20150154]]
ENST00000594127 [[20115228, 20115556], [20117949, 20118071]] [[20115545, 20115556], [20117949, 20118071]]
ENST00000601365 [[20115228, 20118997]] None
ENST00000602079 [[20115228, 20115556], [20133812, 20133908], [20135058, 20135108]] [[20115545, 20115556], [20133812, 20133908], [20135058, 20135108]]
ENST00000358523 [[20116475, 20118084], [20133812, 20133908], [20135058, 20135185], [20141516, 20141691], [20141801, 20141922], [20149981, 20150014]] [[20116813, 20118084], [20133812, 20133908], [20135058, 20135092]]
ENST00000595736 [[20116475, 20118084], [20150151, 20150252]] [[20116813, 20118082]]
ENST00000597972 [[20116812, 20118084], [20133812, 20133908], [20135058, 20135228]] [[20116813, 20118084], [20133812, 20133908], [20135058, 20135206]]
ENST00000601100 [[20117802, 20118084], [20133812, 20133908], [20135058, 20135185], [20149981, 20150085]] [[20117802, 20118084], [20133812, 20133908], [20135058, 20135092]]
ENST00000593468 [[20117910, 20118084], [20126582, 20126646], [20133812, 20133908], [20135058, 20135185], [20150151, 20150271]] [[20118062, 20118084], [20126582, 20126646], [20133812, 20133908], [20135058, 20135185], [20150151, 20150154]]
ENST00000595534 [[20117964, 20118084], [20125983, 20126075], [20126582, 20126651], [20133812, 20133908], [20135058, 20135185], [20150151, 20150250]] [[20126646, 20126651], [20133812, 20133908], [20135058, 20135185], [20150151, 20150154]]
ENST00000599240 [[20141525, 20141691], [20141801, 20141922], [20150151, 20150259]] None
NM_001077349 [[20115226, 20118084], [20133812, 20133908], [20135058, 20135185], [20149981, 20150064]] [[20116813, 20118084], [20133812, 20133908], [20135058, 20135092]]
NM_033196 [[20115226, 20118084], [20133812, 20133908], [20135058, 20135185], [20150151, 20150277]] [[20116813, 20118084], [20133812, 20133908], [20135058, 20135185], [20150151, 20150154]]
Promoter
Chrom Start End Description
chr19 20150029 20150078 CAGE_peak_3_at_ZNF682_5end
chr19 20150268 20150298 CAGE_peak_2_at_ZNF682_5end
chr19 20150301 20150321 CAGE_peak_1_at_ZNF682_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I020067 20067128 20069161 0.2 [{'connected_gene': 'ZNF682', 'score': 11.95}, {'connected_gene': 'GC19P020258', 'score': 0.77}, {'connected_gene': 'ZNF90', 'score': 0.44}]
chr19 GH19I020102 20102473 20103849 0.38 [{'connected_gene': 'ZNF682', 'score': 10.98}, {'connected_gene': 'ZNF506', 'score': 8.27}, {'connected_gene': 'ZNF253', 'score': 4.19}, {'connected_gene': 'PIR56356', 'score': 0.77}, {'connected_gene': 'PIR62950', 'score': 0.39}, {'connected_gene': 'ZNF90', 'score': 0.31}]
chr19 GH19I020038 20038244 20040161 1.85 [{'connected_gene': 'ZNF682', 'score': 580.75}, {'connected_gene': 'LINC00663', 'score': 11.64}, {'connected_gene': 'LOC101928960', 'score': 0.44}]
chr19 GH19I020036 20036829 20036888 0.5 [{'connected_gene': 'ZNF682', 'score': 550.77}, {'connected_gene': 'LOC101928960', 'score': 0.77}]
chr19 GH19I020037 20037801 20038200 0.2 [{'connected_gene': 'ZNF682', 'score': 550.77}, {'connected_gene': 'LOC101928960', 'score': 0.77}]
chr19 GH19I020367 20367792 20368631 0.75 [{'connected_gene': 'ZNF682', 'score': 1.34}, {'connected_gene': 'ZNF737', 'score': 1.29}, {'connected_gene': 'PIR36651', 'score': 0.77}, {'connected_gene': 'LOC105372315', 'score': 0.39}, {'connected_gene': 'BNIP3P21', 'score': 0.39}, {'connected_gene': 'ZNF826P', 'score': 0.22}]
chr19 GH19I020226 20226824 20227036 0.38 [{'connected_gene': 'ZNF486', 'score': 8.25}, {'connected_gene': 'ZNF90', 'score': 4.82}, {'connected_gene': 'ZNF93', 'score': 2.92}, {'connected_gene': 'ZNF682', 'score': 2.89}, {'connected_gene': 'ENSG00000280079', 'score': 0.77}, {'connected_gene': 'LOC105372310', 'score': 0.39}, {'connected_gene': 'ENSG00000267383', 'score': 0.16}]
chr19 GH19I020000 20000154 20000283 0.22 [{'connected_gene': 'TSSK6', 'score': 18.23}, {'connected_gene': 'GC19M022318', 'score': 0.44}, {'connected_gene': 'VN1R77P', 'score': 0.34}, {'connected_gene': 'ZNF682', 'score': 0.28}, {'connected_gene': 'BNIP3P12', 'score': 0.22}]
chr19 GH19I019865 19865212 19868235 2.28 [{'connected_gene': 'ZNF253', 'score': 558.67}, {'connected_gene': 'ZNF93', 'score': 20.23}, {'connected_gene': 'ZNF506', 'score': 19.5}, {'connected_gene': 'ATP13A1', 'score': 15.16}, {'connected_gene': 'MEF2B', 'score': 13.41}, {'connected_gene': 'NR2C2AP', 'score': 13.06}, {'connected_gene': 'GATAD2A', 'score': 12.14}, {'connected_gene': 'ZNF14', 'score': 10.42}, {'connected_gene': 'PBX4', 'score': 9.42}, {'connected_gene': 'VN1R77P', 'score': 5.64}, {'connected_gene': 'ZNF101', 'score': 2.87}, {'connected_gene': 'ZNF682', 'score': 2.82}, {'connected_gene': 'LPAR2', 'score': 1.35}, {'connected_gene': 'BNIP3P10', 'score': 0.77}]
chr19 GH19I020237 20237042 20239408 1.13 [{'connected_gene': 'LOC105372310', 'score': 550.77}, {'connected_gene': 'LOC102724427', 'score': 16.06}, {'connected_gene': 'LOC284441', 'score': 5.99}, {'connected_gene': 'ZNF682', 'score': 5.08}, {'connected_gene': 'ENSG00000280079', 'score': 0.37}, {'connected_gene': 'ENSG00000267383', 'score': 0.18}]
chr19 GH19I020051 20051363 20053310 1.39 [{'connected_gene': 'LOC105372309', 'score': 550.77}, {'connected_gene': 'ZNF682', 'score': 30.5}, {'connected_gene': 'ZNF253', 'score': 1.34}, {'connected_gene': 'ZNF506', 'score': 1.33}, {'connected_gene': 'GC19M022339', 'score': 0.44}]
chr19 GH19I020077 20077335 20084093 1.89 [{'connected_gene': 'LOC100419301', 'score': 550.77}, {'connected_gene': 'ZNF90', 'score': 550.77}, {'connected_gene': 'ZNF682', 'score': 11.74}, {'connected_gene': 'BNIP3P15', 'score': 5.0}, {'connected_gene': 'CILP2', 'score': 4.69}, {'connected_gene': 'MEF2B', 'score': 4.35}, {'connected_gene': 'ZNF506', 'score': 4.34}, {'connected_gene': 'BNIP3P14', 'score': 0.44}]
chr19 GH19I019997 19997772 19997921 0.43 [{'connected_gene': 'GC19M022318', 'score': 0.39}, {'connected_gene': 'VN1R77P', 'score': 0.37}, {'connected_gene': 'ZNF682', 'score': 0.26}, {'connected_gene': 'BNIP3P12', 'score': 0.23}]