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
ENST00000329697 [[20547547, 20548684], [20551975, 20552095], [20554235, 20554335], [20554456, 20554584], [20556478, 20556580], [20557715, 20557796], [20559383, 20559507], [20559715, 20559795], [20563465, 20563619], [20565098, 20565242], [20566590, 20566798], [20570558, 20570769], [20575990, 20576175], [20587528, 20587689]] [[20548579, 20548684], [20551975, 20552095], [20554235, 20554335], [20554456, 20554584], [20556478, 20556580], [20557715, 20557796], [20559383, 20559507], [20559715, 20559795], [20563465, 20563619], [20565098, 20565242], [20566590, 20566798], [20570558, 20570769], [20575990, 20576167]]
ENST00000565322 [[20548412, 20548684], [20551975, 20552095], [20554235, 20554335], [20554456, 20554584], [20556478, 20556580], [20557715, 20557796], [20559383, 20559507], [20559715, 20559795], [20563465, 20563619], [20565098, 20565242], [20566590, 20566798], [20570558, 20570769], [20587528, 20587638]] [[20548579, 20548684], [20551975, 20552095], [20554235, 20554335], [20554456, 20554584], [20556478, 20556580], [20557715, 20557796], [20559383, 20559507], [20559715, 20559795], [20563465, 20563619], [20565098, 20565242], [20566590, 20566798], [20570558, 20570709]]
ENST00000565232 [[20548461, 20548684], [20551975, 20552095], [20554235, 20554335], [20554456, 20554584], [20556478, 20556580], [20557715, 20557796], [20559383, 20559507], [20559715, 20559795], [20563465, 20563619], [20565098, 20565242], [20566590, 20566798], [20570558, 20570769], [20575990, 20576175], [20586743, 20587125], [20587528, 20587608]] [[20548579, 20548684], [20551975, 20552095], [20554235, 20554335], [20554456, 20554584], [20556478, 20556580], [20557715, 20557796], [20559383, 20559507], [20559715, 20559795], [20563465, 20563619], [20565098, 20565242], [20566590, 20566798], [20570558, 20570769], [20575990, 20576167]]
ENST00000567001 [[20548466, 20548684], [20551975, 20552095], [20554235, 20554335], [20554456, 20554584], [20556478, 20556580], [20557715, 20557796], [20559383, 20559507], [20559715, 20559795], [20563465, 20563619], [20565098, 20565242], [20566590, 20566798], [20570558, 20570769], [20575990, 20576175], [20586743, 20586778], [20587528, 20587626]] [[20548579, 20548684], [20551975, 20552095], [20554235, 20554335], [20554456, 20554584], [20556478, 20556580], [20557715, 20557796], [20559383, 20559507], [20559715, 20559795], [20563465, 20563619], [20565098, 20565242], [20566590, 20566798], [20570558, 20570769], [20575990, 20576167]]
ENST00000569364 [[20554009, 20554335], [20554456, 20554584], [20556478, 20556580], [20557715, 20557796], [20559383, 20559507], [20559715, 20559795], [20563465, 20563619], [20565098, 20565242], [20566590, 20566798], [20570558, 20570769], [20575990, 20576175], [20587528, 20587695]] None
ENST00000563943 [[20554146, 20554335], [20554456, 20554584], [20556478, 20556580], [20557715, 20557796], [20559383, 20559507], [20559715, 20559795], [20563465, 20563619], [20565098, 20565242], [20566590, 20566798], [20570558, 20570769], [20587528, 20587634]] None
ENST00000569327 [[20559701, 20559795], [20563465, 20563619], [20565098, 20565242], [20565356, 20565499], [20566590, 20566798], [20570558, 20570769], [20575990, 20576175], [20587528, 20587603]] [[20565468, 20565499], [20566590, 20566798], [20570558, 20570769], [20575990, 20576167]]
ENST00000414188 [[20565468, 20565499], [20566590, 20566798], [20570558, 20570769], [20575990, 20576175], [20587528, 20587695]] [[20565468, 20565499], [20566590, 20566798], [20570558, 20570769], [20575990, 20576167]]
ENST00000568882 [[20566764, 20566798], [20570558, 20570769], [20586743, 20586822], [20587528, 20587749]] [[20566764, 20566798], [20570558, 20570709]]
ENST00000566384 [[20570592, 20570769], [20575990, 20576175], [20586743, 20586871], [20587528, 20587599]] [[20570592, 20570769], [20575990, 20576167]]
ENST00000569344 [[20570629, 20570769], [20575990, 20576175], [20586743, 20586829], [20587528, 20587673]] [[20570629, 20570769], [20575990, 20576167]]
ENST00000566998 [[20548045, 20548684], [20551975, 20552095], [20554235, 20554335], [20554456, 20554584], [20556478, 20556580], [20557715, 20557796], [20558497, 20559790]] None
ENST00000568098 [[20548506, 20548684], [20551975, 20552086], [20554482, 20554584], [20556478, 20556492]] [[20548579, 20548684], [20551975, 20552086], [20554482, 20554584], [20556478, 20556492]]
ENST00000564849 [[20548613, 20548684], [20551975, 20552638]] None
ENST00000569131 [[20553022, 20554335], [20554456, 20554584], [20556478, 20556580], [20557715, 20558638]] None
ENST00000567288 [[20555849, 20556144], [20556478, 20556580], [20557715, 20557796], [20559383, 20559507], [20559715, 20559795], [20563465, 20563619], [20565098, 20565145]] None
ENST00000569163 [[20560932, 20561200], [20563465, 20563619], [20565098, 20565242], [20566590, 20566616]] [[20561074, 20561200], [20563465, 20563619], [20565098, 20565242], [20566590, 20566616]]
ENST00000562026 [[20585446, 20585967], [20586743, 20586829], [20587528, 20587606]] None
ENST00000564855 [[20585630, 20585967], [20587528, 20587662]] None
NM_182617 [[20548079, 20548684], [20551975, 20552095], [20554235, 20554335], [20554456, 20554584], [20556478, 20556580], [20557715, 20557796], [20559383, 20559507], [20559715, 20559795], [20563465, 20563619], [20565098, 20565242], [20566590, 20566798], [20570558, 20570769], [20575990, 20576175], [20586743, 20586778], [20587528, 20587695]] [[20548579, 20548684], [20551975, 20552095], [20554235, 20554335], [20554456, 20554584], [20556478, 20556580], [20557715, 20557796], [20559383, 20559507], [20559715, 20559795], [20563465, 20563619], [20565098, 20565242], [20566590, 20566798], [20570558, 20570769], [20575990, 20576167]]
NM_001105069 [[20548079, 20548684], [20551975, 20552095], [20554235, 20554335], [20554456, 20554584], [20556478, 20556580], [20557715, 20557796], [20559383, 20559507], [20559715, 20559795], [20563465, 20563619], [20565098, 20565242], [20566590, 20566798], [20570558, 20570769], [20575990, 20576175], [20587528, 20587695]] [[20548579, 20548684], [20551975, 20552095], [20554235, 20554335], [20554456, 20554584], [20556478, 20556580], [20557715, 20557796], [20559383, 20559507], [20559715, 20559795], [20563465, 20563619], [20565098, 20565242], [20566590, 20566798], [20570558, 20570769], [20575990, 20576167]]
Promoter
Chrom Start End Description
chr16 20548330 20548341 CAGE_peak_4_at_ACSM2B_5end
chr16 20548438 20548449 CAGE_peak_2_at_ACSM2B_5end
chr16 20548467 20548468 CAGE_peak_7_at_ACSM2B_5end
chr16 20548514 20548523 CAGE_peak_3_at_ACSM2B_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I020515 20515091 20517258 0.78 [{'connected_gene': 'ACSM5', 'score': 8.31}, {'connected_gene': 'ERI2', 'score': 4.91}, {'connected_gene': 'ENSG00000280306', 'score': 0.31}, {'connected_gene': 'ACSM2B', 'score': 0.21}]
chr16 GH16I020576 20576302 20576361 0.7 [{'connected_gene': 'ACSM2B', 'score': 550.77}, {'connected_gene': 'ENSG00000280306', 'score': 0.17}]