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
ENST00000440718 [[32390932, 32390972], [32399131, 32399216], [32400387, 32400430], [32409341, 32409407], [32417404, 32417485], [32417986, 32418022], [32418957, 32419052], [32422412, 32422461], [32422775, 32422853]] [[32390969, 32390972], [32399131, 32399216], [32400387, 32400430], [32409341, 32409407], [32417404, 32417485], [32417986, 32418022], [32418957, 32419052], [32422412, 32422461], [32422775, 32422853]]
ENST00000538303 [[32390932, 32390972], [32399131, 32399216], [32400387, 32400430], [32409341, 32409407], [32417404, 32417485], [32417986, 32418022], [32418957, 32419052], [32422412, 32422461], [32422775, 32422895], [32429658, 32429761], [32431954, 32432002], [32434561, 32434630], [32445281, 32446216]] [[32390969, 32390972], [32399131, 32399216], [32400387, 32400430], [32409341, 32409407], [32417404, 32417485], [32417986, 32418022], [32418957, 32419052], [32422412, 32422461], [32422775, 32422895], [32429658, 32429761], [32431954, 32432002], [32434561, 32434630], [32445281, 32445782]]
ENST00000379343 [[32390932, 32390972], [32396355, 32396442], [32399131, 32399216], [32400387, 32400430], [32402545, 32402665], [32409341, 32409407], [32417404, 32417485], [32417986, 32418022], [32418957, 32419052], [32422412, 32422461], [32422775, 32422895], [32429658, 32429761], [32431954, 32432002], [32434561, 32434630], [32445281, 32446593]] [[32390969, 32390972], [32396355, 32396442], [32399131, 32399216], [32400387, 32400430], [32402545, 32402665], [32409341, 32409407], [32417404, 32417485], [32417986, 32418022], [32418957, 32419052], [32422412, 32422461], [32422775, 32422895], [32429658, 32429761], [32431954, 32432002], [32434561, 32434630], [32445281, 32445782]]
ENST00000454324 [[32390932, 32390972], [32396355, 32396442], [32399131, 32399216], [32409341, 32409407], [32417404, 32417485], [32417986, 32418022], [32418957, 32419052], [32422386, 32422461], [32422775, 32422895], [32429658, 32429761], [32431954, 32432002], [32434561, 32434630], [32445281, 32446735]] [[32390969, 32390972], [32396355, 32396442], [32399131, 32399216], [32409341, 32409346]]
ENST00000357055 [[32390932, 32390972], [32396355, 32396442], [32399131, 32399216], [32409341, 32409407], [32417404, 32417485], [32417986, 32418022], [32418957, 32419052], [32422386, 32422461], [32422775, 32422895], [32429658, 32429761], [32431954, 32432002], [32434561, 32434630], [32445281, 32446735]] [[32422821, 32422895], [32429658, 32429761], [32431954, 32432002], [32434561, 32434630], [32445281, 32445782]]
ENST00000435660 [[32390932, 32390972], [32396355, 32396442], [32399131, 32399216], [32400387, 32400430], [32409341, 32409407], [32417404, 32417485], [32417986, 32418022], [32418957, 32419052], [32422412, 32422461], [32422775, 32422895], [32429658, 32429761], [32431954, 32432002], [32445281, 32446809]] [[32390969, 32390972], [32396355, 32396442], [32399131, 32399216], [32400387, 32400430], [32409341, 32409407], [32417404, 32417485], [32417986, 32418022], [32418957, 32419052], [32422412, 32422461], [32422775, 32422895], [32429658, 32429761], [32431954, 32432002], [32445281, 32445782]]
ENST00000449777 [[32390932, 32390972], [32396355, 32396442], [32417404, 32417485], [32417986, 32418022], [32418957, 32419052], [32422775, 32422895], [32429658, 32429761], [32431954, 32432002], [32434561, 32434630], [32445281, 32446809]] [[32390969, 32390972], [32396355, 32396442], [32417404, 32417410]]
ENST00000282587 [[32390932, 32390972], [32396355, 32396442], [32399131, 32399216], [32400387, 32400430], [32409341, 32409407], [32417404, 32417485], [32417986, 32418022], [32418957, 32419052], [32422412, 32422461], [32422775, 32422895], [32429658, 32429761], [32431954, 32432002], [32434561, 32434630], [32445281, 32449448]] [[32390969, 32390972], [32396355, 32396442], [32399131, 32399216], [32400387, 32400430], [32409341, 32409407], [32417404, 32417485], [32417986, 32418022], [32418957, 32419052], [32422412, 32422461], [32422775, 32422895], [32429658, 32429761], [32431954, 32432002], [32434561, 32434630], [32445281, 32445782]]
ENST00000406369 [[32390937, 32390972], [32409341, 32409407], [32417404, 32417485], [32417986, 32418022], [32418957, 32419052], [32422412, 32422461], [32422775, 32422895], [32429658, 32429761], [32431954, 32432002], [32434561, 32434630], [32445281, 32449168]] [[32409345, 32409407], [32417404, 32417485], [32417986, 32418022], [32418957, 32419052], [32422412, 32422461], [32422775, 32422895], [32429658, 32429761], [32431954, 32432002], [32434561, 32434630], [32445281, 32445782]]
ENST00000457724 [[32390950, 32390972], [32396355, 32396442], [32399131, 32399216], [32400387, 32400430], [32409341, 32409407], [32412220, 32412372], [32417404, 32417485], [32417986, 32418020]] [[32390969, 32390972], [32396355, 32396442], [32399131, 32399216], [32400387, 32400430], [32409341, 32409407], [32412220, 32412305]]
NM_001330476 [[32390909, 32390972], [32409341, 32409407], [32417404, 32417485], [32417986, 32418022], [32418957, 32419052], [32422412, 32422461], [32422775, 32422895], [32429658, 32429761], [32431954, 32432002], [32434561, 32434630], [32445281, 32449448]] [[32409345, 32409407], [32417404, 32417485], [32417986, 32418022], [32418957, 32419052], [32422412, 32422461], [32422775, 32422895], [32429658, 32429761], [32431954, 32432002], [32434561, 32434630], [32445281, 32445782]]
NM_001193515 [[32390909, 32390972], [32399131, 32399216], [32400387, 32400430], [32409341, 32409407], [32417404, 32417485], [32417986, 32418022], [32418957, 32419052], [32422412, 32422461], [32422775, 32422895], [32429658, 32429761], [32431954, 32432002], [32434561, 32434630], [32445281, 32449448]] [[32390969, 32390972], [32399131, 32399216], [32400387, 32400430], [32409341, 32409407], [32417404, 32417485], [32417986, 32418022], [32418957, 32419052], [32422412, 32422461], [32422775, 32422895], [32429658, 32429761], [32431954, 32432002], [32434561, 32434630], [32445281, 32445782]]
NM_001330478 [[32390909, 32390972], [32396355, 32396442], [32417404, 32417485], [32417986, 32418022], [32418957, 32419052], [32422775, 32422895], [32429658, 32429761], [32431954, 32432002], [32434561, 32434630], [32445281, 32449448]] [[32422821, 32422895], [32429658, 32429761], [32431954, 32432002], [32434561, 32434630], [32445281, 32445782]]
NM_001330477 [[32390909, 32390972], [32396355, 32396442], [32399131, 32399216], [32409341, 32409407], [32417404, 32417485], [32417986, 32418022], [32418957, 32419052], [32422386, 32422461], [32422775, 32422895], [32429658, 32429761], [32431954, 32432002], [32434561, 32434630], [32445281, 32449448]] [[32422821, 32422895], [32429658, 32429761], [32431954, 32432002], [32434561, 32434630], [32445281, 32445782]]
NM_001193514 [[32390909, 32390972], [32396355, 32396442], [32399131, 32399216], [32400387, 32400430], [32409341, 32409407], [32417404, 32417485], [32417986, 32418022], [32418957, 32419052], [32422412, 32422461], [32422775, 32422895], [32429658, 32429761], [32431954, 32432002], [32445281, 32449448]] [[32390969, 32390972], [32396355, 32396442], [32399131, 32399216], [32400387, 32400430], [32409341, 32409407], [32417404, 32417485], [32417986, 32418022], [32418957, 32419052], [32422412, 32422461], [32422775, 32422895], [32429658, 32429761], [32431954, 32432002], [32445281, 32445782]]
NM_017964 [[32390909, 32390972], [32396355, 32396442], [32399131, 32399216], [32400387, 32400430], [32409341, 32409407], [32417404, 32417485], [32417986, 32418022], [32418957, 32419052], [32422412, 32422461], [32422775, 32422895], [32429658, 32429761], [32431954, 32432002], [32434561, 32434630], [32445281, 32449448]] [[32390969, 32390972], [32396355, 32396442], [32399131, 32399216], [32400387, 32400430], [32409341, 32409407], [32417404, 32417485], [32417986, 32418022], [32418957, 32419052], [32422412, 32422461], [32422775, 32422895], [32429658, 32429761], [32431954, 32432002], [32434561, 32434630], [32445281, 32445782]]
NM_001193513 [[32390909, 32390972], [32396355, 32396442], [32399131, 32399216], [32400387, 32400430], [32402545, 32402665], [32409341, 32409407], [32417404, 32417485], [32417986, 32418022], [32418957, 32419052], [32422412, 32422461], [32422775, 32422895], [32429658, 32429761], [32431954, 32432002], [32434561, 32434630], [32445281, 32449448]] [[32390969, 32390972], [32396355, 32396442], [32399131, 32399216], [32400387, 32400430], [32402545, 32402665], [32409341, 32409407], [32417404, 32417485], [32417986, 32418022], [32418957, 32419052], [32422412, 32422461], [32422775, 32422895], [32429658, 32429761], [32431954, 32432002], [32434561, 32434630], [32445281, 32445782]]
NM_001330479 [[32390909, 32391258], [32396355, 32396442], [32399131, 32399216], [32400387, 32400430], [32409341, 32409407], [32417404, 32417485], [32417986, 32418022], [32418957, 32419052], [32422412, 32422461], [32422775, 32422895], [32429658, 32429761], [32431954, 32432002], [32434561, 32434630], [32445281, 32449448]] [[32399188, 32399216], [32400387, 32400430], [32409341, 32409407], [32417404, 32417485], [32417986, 32418022], [32418957, 32419052], [32422412, 32422461], [32422775, 32422895], [32429658, 32429761], [32431954, 32432002], [32434561, 32434630], [32445281, 32445782]]
Promoter
Chrom Start End Description
chr2 32390925 32390941 CAGE_peak_1_at_SLC30A6_5end
chr2 32390945 32390956 CAGE_peak_2_at_SLC30A6_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I032038 32038743 32040924 2.03 [{'connected_gene': 'DPY30', 'score': 550.77}, {'connected_gene': 'SLC30A6', 'score': 32.11}, {'connected_gene': 'BIRC6', 'score': 12.53}, {'connected_gene': 'TTC27', 'score': 10.0}, {'connected_gene': 'NLRC4', 'score': 5.46}, {'connected_gene': 'ENSG00000271228', 'score': 0.31}]
chr2 GH02I031992 31992804 31993944 0.31 [{'connected_gene': 'DPY30', 'score': 10.89}, {'connected_gene': 'SLC30A6', 'score': 6.11}, {'connected_gene': 'MEMO1', 'score': 0.37}, {'connected_gene': 'GC02P031938', 'score': 0.23}]
chr2 GH02I032004 32004799 32006703 0.75 [{'connected_gene': 'DPY30', 'score': 10.92}, {'connected_gene': 'SLC30A6', 'score': 9.01}, {'connected_gene': 'MEMO1', 'score': 0.44}, {'connected_gene': 'GC02P031938', 'score': 0.2}]
chr2 GH02I031996 31996447 31998515 0.49 [{'connected_gene': 'DPY30', 'score': 10.91}, {'connected_gene': 'SLC30A6', 'score': 6.19}, {'connected_gene': 'MEMO1', 'score': 0.39}, {'connected_gene': 'GC02P031938', 'score': 0.22}]
chr2 GH02I032072 32072795 32075214 0.54 [{'connected_gene': 'DPY30', 'score': 12.0}, {'connected_gene': 'MEMO1', 'score': 10.93}, {'connected_gene': 'SLC30A6', 'score': 10.09}, {'connected_gene': 'ENSG00000272716', 'score': 6.29}, {'connected_gene': 'XDH', 'score': 4.4}, {'connected_gene': 'SPAST', 'score': 0.39}, {'connected_gene': 'GC02M032061', 'score': 0.26}]
chr2 GH02I032277 32277072 32279201 2.03 [{'connected_gene': 'YIPF4', 'score': 550.77}, {'connected_gene': 'SLC30A6', 'score': 21.45}, {'connected_gene': 'BIRC6', 'score': 19.96}, {'connected_gene': 'TTC27', 'score': 15.14}, {'connected_gene': 'DDX50P1', 'score': 14.91}, {'connected_gene': 'RNU6-647P', 'score': 10.56}, {'connected_gene': 'NLRC4', 'score': 4.71}, {'connected_gene': 'ENSG00000272754', 'score': 0.26}]
chr2 GH02I032279 32279601 32279800 0.2 [{'connected_gene': 'YIPF4', 'score': 550.77}, {'connected_gene': 'SLC30A6', 'score': 9.69}, {'connected_gene': 'ENSG00000272754', 'score': 0.26}]
chr2 GH02I031502 31502782 31505738 0.31 [{'connected_gene': 'XDH', 'score': 7.35}, {'connected_gene': 'SLC30A6', 'score': 4.82}, {'connected_gene': 'ENSG00000228563', 'score': 0.34}, {'connected_gene': 'GC02P031438', 'score': 0.2}]
chr2 GH02I031429 31429287 31430998 0.49 [{'connected_gene': 'XDH', 'score': 9.44}, {'connected_gene': 'SLC30A6', 'score': 4.66}, {'connected_gene': 'GC02P031438', 'score': 0.44}]
chr2 GH02I031473 31473255 31477278 0.31 [{'connected_gene': 'XDH', 'score': 5.68}, {'connected_gene': 'EHD3', 'score': 4.53}, {'connected_gene': 'SLC30A6', 'score': 4.38}, {'connected_gene': 'GC02P031438', 'score': 0.28}, {'connected_gene': 'ENSG00000228563', 'score': 0.23}]
chr2 GH02I032061 32061987 32065186 2.08 [{'connected_gene': 'SPAST', 'score': 550.77}, {'connected_gene': 'SLC30A6', 'score': 9.55}, {'connected_gene': 'ENSG00000272716', 'score': 6.31}, {'connected_gene': 'GC02M032061', 'score': 0.23}]
chr2 GH02I032261 32261601 32266210 1.59 [{'connected_gene': 'NLRC4', 'score': 550.77}, {'connected_gene': 'SLC30A6', 'score': 20.97}, {'connected_gene': 'BIRC6', 'score': 16.91}, {'connected_gene': 'DDX50P1', 'score': 12.8}, {'connected_gene': 'TTC27', 'score': 11.55}, {'connected_gene': 'GC02M032177', 'score': 0.26}]
chr2 GH02I032288 32288202 32290600 1.07 [{'connected_gene': 'BIRC6', 'score': 29.2}, {'connected_gene': 'NLRC4', 'score': 16.74}, {'connected_gene': 'DDX50P1', 'score': 16.55}, {'connected_gene': 'TTC27', 'score': 15.83}, {'connected_gene': 'SLC30A6', 'score': 11.91}, {'connected_gene': 'YIPF4', 'score': 11.18}, {'connected_gene': 'RNU6-647P', 'score': 10.87}, {'connected_gene': 'MIR558', 'score': 9.72}, {'connected_gene': 'ENSG00000272754', 'score': 0.29}]
chr2 GH02I031983 31983556 31984691 0.52 [{'connected_gene': 'BIRC6', 'score': 19.83}, {'connected_gene': 'DDX50P1', 'score': 14.8}, {'connected_gene': 'TTC27', 'score': 11.13}, {'connected_gene': 'SLC30A6', 'score': 10.99}, {'connected_gene': 'MEMO1', 'score': 0.31}, {'connected_gene': 'GC02P031938', 'score': 0.25}, {'connected_gene': 'DPY30', 'score': 0.22}]
chr2 GH02I032068 32068852 32070000 0.94 [{'connected_gene': 'SLC30A6', 'score': 9.64}, {'connected_gene': 'XDH', 'score': 4.45}, {'connected_gene': 'SPAST', 'score': 0.44}, {'connected_gene': 'GC02M032061', 'score': 0.25}]
chr2 GH02I031557 31557757 31559277 0.85 [{'connected_gene': 'SLC30A6', 'score': 6.45}, {'connected_gene': 'ENSG00000228563', 'score': 0.29}, {'connected_gene': 'GC02P031621', 'score': 0.21}, {'connected_gene': 'SRD5A2', 'score': 0.11}]
chr2 GH02I031812 31811375 31813415 1.16 [{'connected_gene': 'SLC30A6', 'score': 5.87}, {'connected_gene': 'NLRC4', 'score': 5.55}, {'connected_gene': 'XDH', 'score': 4.42}, {'connected_gene': 'LINC01946', 'score': 0.44}, {'connected_gene': 'KRT18P52', 'score': 0.39}]
chr2 GH02I032164 32164460 32168155 2.11 [{'connected_gene': 'SLC30A6', 'score': 607.83}, {'connected_gene': 'ENSG00000272716', 'score': 559.1}, {'connected_gene': 'GC02M032166', 'score': 550.77}, {'connected_gene': 'BIRC6', 'score': 47.0}, {'connected_gene': 'DDX50P1', 'score': 32.71}, {'connected_gene': 'TTC27', 'score': 31.23}, {'connected_gene': 'RNU6-647P', 'score': 10.51}, {'connected_gene': 'NLRC4', 'score': 5.52}, {'connected_gene': 'GC02P032156', 'score': 0.39}]
chr2 GH02I032135 32135012 32136694 0.88 [{'connected_gene': 'SLC30A6', 'score': 18.96}, {'connected_gene': 'RNU6-647P', 'score': 10.71}, {'connected_gene': 'DPY30', 'score': 10.66}, {'connected_gene': 'MEMO1', 'score': 9.99}, {'connected_gene': 'GC02P032156', 'score': 0.34}, {'connected_gene': 'GC02M032061', 'score': 0.34}, {'connected_gene': 'SPAST', 'score': 0.19}]
chr2 GH02I032133 32133200 32133401 0.38 [{'connected_gene': 'SLC30A6', 'score': 11.72}, {'connected_gene': 'RNU6-647P', 'score': 10.7}, {'connected_gene': 'DPY30', 'score': 10.66}, {'connected_gene': 'MEMO1', 'score': 9.99}, {'connected_gene': 'GC02M032061', 'score': 0.37}, {'connected_gene': 'GC02P032156', 'score': 0.34}, {'connected_gene': 'SPAST', 'score': 0.2}]
chr2 GH02I032916 32916069 32916751 0.76 [{'connected_gene': 'SLC30A6', 'score': 12.07}, {'connected_gene': 'ENSG00000236854', 'score': 0.39}, {'connected_gene': 'LOC105374453', 'score': 0.39}, {'connected_gene': 'GC02P032845', 'score': 0.19}, {'connected_gene': 'LINC00486', 'score': 0.16}]
chr2 GH02I031837 31837401 31837600 0.52 [{'connected_gene': 'SLC30A6', 'score': 15.59}, {'connected_gene': 'LINC01946', 'score': 11.81}, {'connected_gene': 'AK2P2', 'score': 0.39}, {'connected_gene': 'ENSG00000273165', 'score': 0.37}]
chr2 GH02I031440 31440895 31441044 0.43 [{'connected_gene': 'SLC30A6', 'score': 4.66}, {'connected_gene': 'GC02P031438', 'score': 0.77}, {'connected_gene': 'ENSG00000228563', 'score': 0.17}]
chr2 GH02I032627 32627014 32629001 2.02 [{'connected_gene': 'TTC27', 'score': 560.89}, {'connected_gene': 'BIRC6', 'score': 22.1}, {'connected_gene': 'DDX50P1', 'score': 14.62}, {'connected_gene': 'SLC30A6', 'score': 14.04}, {'connected_gene': 'DPY30', 'score': 4.59}, {'connected_gene': 'GC02M032591', 'score': 0.28}]
chr2 GH02I032418 32418222 32419562 0.56 [{'connected_gene': 'TTC27', 'score': 5.3}, {'connected_gene': 'SLC30A6', 'score': 4.11}, {'connected_gene': 'BIRC6-AS1', 'score': 0.28}, {'connected_gene': 'BIRC6', 'score': 0.21}, {'connected_gene': 'ENSG00000276334', 'score': 0.15}]
chr2 GH02I031956 31956401 31959171 0.78 [{'connected_gene': 'MEMO1', 'score': 11.23}, {'connected_gene': 'DPY30', 'score': 10.62}, {'connected_gene': 'SLC30A6', 'score': 8.58}, {'connected_gene': 'GC02P031938', 'score': 0.37}]
chr2 GH02I031960 31960001 31960200 0.4 [{'connected_gene': 'MEMO1', 'score': 11.23}, {'connected_gene': 'DPY30', 'score': 10.62}, {'connected_gene': 'SLC30A6', 'score': 4.24}, {'connected_gene': 'GC02P031938', 'score': 0.34}]
chr2 GH02I031988 31987552 31987701 0.83 [{'connected_gene': 'MEMO1', 'score': 11.89}, {'connected_gene': 'DPY30', 'score': 10.5}, {'connected_gene': 'SLC30A6', 'score': 10.06}, {'connected_gene': 'GC02P031938', 'score': 0.25}]
chr2 GH02I031963 31963001 31963200 0.79 [{'connected_gene': 'MEMO1', 'score': 11.19}, {'connected_gene': 'DPY30', 'score': 11.12}, {'connected_gene': 'SLC30A6', 'score': 5.79}, {'connected_gene': 'GC02P031938', 'score': 0.34}]
chr2 GH02I032008 32008542 32012383 2.32 [{'connected_gene': 'MEMO1', 'score': 550.77}, {'connected_gene': 'SLC30A6', 'score': 16.46}, {'connected_gene': 'DPY30', 'score': 0.31}, {'connected_gene': 'GC02P031938', 'score': 0.19}]
chr2 GH02I032234 32234519 32236248 0.43 [{'connected_gene': 'RNU6-647P', 'score': 12.19}, {'connected_gene': 'NLRC4', 'score': 11.58}, {'connected_gene': 'SLC30A6', 'score': 9.55}, {'connected_gene': 'GC02M032177', 'score': 0.39}]