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
ENST00000447404 [[125883909, 125887952], [125890492, 125890537], [125895123, 125895247], [125898319, 125898460], [125898659, 125898794], [125901807, 125901966], [125909133, 125909333], [125910056, 125910149], [125920290, 125920402], [125920610, 125920708], [125921374, 125921486], [125922645, 125922741], [125923255, 125923347], [125932180, 125932325], [125935955, 125936121], [125941285, 125941506], [125946410, 125946577], [126030714, 126030855]] [[125887875, 125887952], [125890492, 125890537], [125895123, 125895247], [125898319, 125898460], [125898659, 125898794], [125901807, 125901966], [125909133, 125909333], [125910056, 125910149], [125920290, 125920402], [125920610, 125920708], [125921374, 125921486], [125922645, 125922741], [125923255, 125923347], [125932180, 125932325], [125935955, 125936121], [125941285, 125941506], [125946410, 125946413]]
ENST00000348403 [[125886989, 125887952], [125890492, 125890537], [125895123, 125895247], [125898319, 125898460], [125898659, 125898794], [125901807, 125901966], [125909133, 125909333], [125910056, 125910149], [125920290, 125920402], [125920610, 125920708], [125921374, 125921486], [125922645, 125922741], [125923255, 125923347], [125932180, 125932325], [125935955, 125936121], [125941285, 125941506], [125946410, 125946577], [125999108, 125999245], [126030714, 126030843]] [[125887875, 125887952], [125890492, 125890537], [125895123, 125895247], [125898319, 125898460], [125898659, 125898794], [125901807, 125901966], [125909133, 125909333], [125910056, 125910149], [125920290, 125920402], [125920610, 125920708], [125921374, 125921486], [125922645, 125922741], [125923255, 125923347], [125932180, 125932325], [125935955, 125936121], [125941285, 125941506], [125946410, 125946413]]
ENST00000360998 [[125887317, 125887952], [125890492, 125890537], [125895123, 125895247], [125898319, 125898460], [125898659, 125898794], [125901807, 125901966], [125909133, 125909333], [125910056, 125910149], [125920290, 125920402], [125920610, 125920708], [125921374, 125921486], [125922645, 125922741], [125923255, 125923347], [125932180, 125932325], [125935955, 125936121], [125941285, 125941506], [125943146, 125943254], [125946410, 125946577], [126030714, 126030855]] [[125887875, 125887952], [125890492, 125890537], [125895123, 125895247], [125898319, 125898460], [125898659, 125898794], [125901807, 125901966], [125909133, 125909333], [125910056, 125910149], [125920290, 125920402], [125920610, 125920708], [125921374, 125921486], [125922645, 125922741], [125923255, 125923347], [125932180, 125932325], [125935955, 125936121], [125941285, 125941467]]
ENST00000407982 [[125887498, 125887952], [125890492, 125890537], [125895123, 125895247], [125898319, 125898460], [125898659, 125898794], [125901807, 125901966], [125909133, 125909333], [125910056, 125910149], [125920290, 125920402], [125920610, 125920708], [125921374, 125921486], [125922645, 125922741], [125923255, 125923347], [125930467, 125930537], [125932180, 125932325], [125935955, 125936113], [125941285, 125941506], [125946410, 125946577], [126030714, 126030843]] [[125936052, 125936113], [125941285, 125941506], [125946410, 125946413]]
ENST00000479114 [[125941285, 125941506], [125946410, 125946577], [125974863, 125974987], [125975867, 125976187]] [[125941285, 125941506], [125946410, 125946413]]
ENST00000530364 [[125871778, 125872032], [125884471, 125884502]] None
ENST00000478973 [[125871792, 125872032], [125878042, 125878162], [125884471, 125884605], [125890492, 125890537], [125895123, 125895247]] [[125884600, 125884605], [125890492, 125890537], [125895123, 125895247]]
ENST00000471564 [[125871835, 125872032], [125878207, 125878377], [125890492, 125890537], [125895123, 125895246]] [[125878291, 125878377], [125890492, 125890537], [125895123, 125895246]]
ENST00000496533 [[125883569, 125883827], [125884471, 125884605], [125890492, 125890537], [125895123, 125895247], [125898319, 125898415]] [[125884600, 125884605], [125890492, 125890537], [125895123, 125895247], [125898319, 125898415]]
ENST00000492885 [[125898085, 125898460], [125898659, 125898782]] None
NM_018387 [[125883898, 125887952], [125890492, 125890537], [125895123, 125895247], [125898319, 125898460], [125898659, 125898794], [125901807, 125901966], [125909133, 125909333], [125910056, 125910149], [125920290, 125920402], [125920610, 125920708], [125921374, 125921486], [125922645, 125922741], [125923255, 125923347], [125932180, 125932325], [125935955, 125936121], [125941285, 125941506], [125946410, 125946577], [125999108, 125999245], [126030714, 126030843]] [[125887875, 125887952], [125890492, 125890537], [125895123, 125895247], [125898319, 125898460], [125898659, 125898794], [125901807, 125901966], [125909133, 125909333], [125910056, 125910149], [125920290, 125920402], [125920610, 125920708], [125921374, 125921486], [125922645, 125922741], [125923255, 125923347], [125932180, 125932325], [125935955, 125936121], [125941285, 125941506], [125946410, 125946413]]
NR_033234 [[125883898, 125887952], [125890492, 125890537], [125895123, 125895247], [125898319, 125898460], [125898659, 125898794], [125901807, 125901966], [125909133, 125909333], [125910056, 125910149], [125920290, 125920402], [125920610, 125920708], [125921374, 125921486], [125922645, 125922741], [125923255, 125923347], [125930467, 125930537], [125932180, 125932325], [125935955, 125936113], [125941285, 125941506], [125946410, 125946577], [126030714, 126030843]] None
NM_001171137 [[125883898, 125887952], [125890492, 125890537], [125895123, 125895247], [125898319, 125898460], [125898659, 125898794], [125901807, 125901966], [125909133, 125909333], [125910056, 125910149], [125920290, 125920402], [125920610, 125920708], [125921374, 125921486], [125922645, 125922741], [125923255, 125923347], [125932180, 125932325], [125935955, 125936121], [125941285, 125941506], [125943146, 125943254], [125946410, 125946577], [126030714, 126030855]] [[125887875, 125887952], [125890492, 125890537], [125895123, 125895247], [125898319, 125898460], [125898659, 125898794], [125901807, 125901966], [125909133, 125909333], [125910056, 125910149], [125920290, 125920402], [125920610, 125920708], [125921374, 125921486], [125922645, 125922741], [125923255, 125923347], [125932180, 125932325], [125935955, 125936121], [125941285, 125941467]]
Promoter
Chrom Start End Description
chr9 125898916 125898941 CAGE_peak_14_at_STRBP_5end
chr9 125946512 125946529 CAGE_peak_4_at_STRBP_5end
chr9 126030793 126030806 CAGE_peak_2_at_STRBP_5end
chr9 126030817 126030906 CAGE_peak_1_at_STRBP_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I123173 123173192 123177391 0.96 [{'connected_gene': 'MIR600HG', 'score': 10.66}, {'connected_gene': 'MIR600', 'score': 10.65}, {'connected_gene': 'STRBP', 'score': 10.53}, {'connected_gene': 'RABGAP1', 'score': 8.53}, {'connected_gene': 'GC09M123183', 'score': 0.22}, {'connected_gene': 'PIR44660', 'score': 0.22}]
chr9 GH09I123217 123217262 123217371 0.65 [{'connected_gene': 'MIR600HG', 'score': 10.73}, {'connected_gene': 'MIR600', 'score': 10.73}, {'connected_gene': 'STRBP', 'score': 10.7}, {'connected_gene': 'GC09M123183', 'score': 0.15}, {'connected_gene': 'PIR44660', 'score': 0.15}]
chr9 GH09I123251 123251442 123251611 0.46 [{'connected_gene': 'MIR600HG', 'score': 10.57}, {'connected_gene': 'MIR600', 'score': 10.57}, {'connected_gene': 'STRBP', 'score': 0.37}, {'connected_gene': 'GC09M123183', 'score': 0.12}, {'connected_gene': 'PIR44660', 'score': 0.12}]
chr9 GH09I123364 123364189 123364888 1.05 [{'connected_gene': 'MIR601', 'score': 12.39}, {'connected_gene': 'DENND1A', 'score': 12.14}, {'connected_gene': 'MIR600', 'score': 10.82}, {'connected_gene': 'MIR600HG', 'score': 10.82}, {'connected_gene': 'STRBP', 'score': 10.57}, {'connected_gene': 'CRB2', 'score': 8.46}, {'connected_gene': 'GC09P123401', 'score': 0.28}]
chr9 GH09I123362 123362180 123362828 0.38 [{'connected_gene': 'MIR601', 'score': 12.38}, {'connected_gene': 'DENND1A', 'score': 12.14}, {'connected_gene': 'MIR600', 'score': 10.82}, {'connected_gene': 'MIR600HG', 'score': 10.82}, {'connected_gene': 'STRBP', 'score': 10.58}, {'connected_gene': 'CRB2', 'score': 0.44}, {'connected_gene': 'GC09P123401', 'score': 0.28}]
chr9 GH09I123367 123367003 123371370 0.56 [{'connected_gene': 'MIR601', 'score': 12.63}, {'connected_gene': 'DENND1A', 'score': 12.37}, {'connected_gene': 'MIR600', 'score': 10.82}, {'connected_gene': 'MIR600HG', 'score': 10.82}, {'connected_gene': 'STRBP', 'score': 10.56}, {'connected_gene': 'CRB2', 'score': 5.95}, {'connected_gene': 'GC09P123401', 'score': 0.29}]
chr9 GH09I123371 123371647 123373302 0.6 [{'connected_gene': 'MIR601', 'score': 12.63}, {'connected_gene': 'DENND1A', 'score': 12.37}, {'connected_gene': 'STRBP', 'score': 5.34}, {'connected_gene': 'CRB2', 'score': 4.42}, {'connected_gene': 'GC09P123401', 'score': 0.31}]
chr9 GH09I123391 123391759 123392075 0.31 [{'connected_gene': 'MIR600', 'score': 10.37}, {'connected_gene': 'MIR600HG', 'score': 10.37}, {'connected_gene': 'STRBP', 'score': 10.32}, {'connected_gene': 'GC09P123401', 'score': 0.44}, {'connected_gene': 'CRB2', 'score': 0.28}, {'connected_gene': 'DENND1A', 'score': 0.03}]
chr9 GH09I123337 123337772 123341571 1.39 [{'connected_gene': 'ZBTB26', 'score': 11.53}, {'connected_gene': 'STRBP', 'score': 8.34}, {'connected_gene': 'CRB2', 'score': 0.39}, {'connected_gene': 'LOC105376265', 'score': 0.37}]
chr9 GH09I123304 123304262 123305553 1.38 [{'connected_gene': 'ZBTB26', 'score': 23.28}, {'connected_gene': 'RC3H2', 'score': 11.94}, {'connected_gene': 'STRBP', 'score': 11.27}, {'connected_gene': 'MIR600HG', 'score': 10.71}, {'connected_gene': 'MIR600', 'score': 10.71}, {'connected_gene': 'GC09M123300', 'score': 0.77}, {'connected_gene': 'LOC105376265', 'score': 0.37}]
chr9 GH09I123326 123326040 123328700 1.34 [{'connected_gene': 'ZBTB26', 'score': 15.17}, {'connected_gene': 'RC3H2', 'score': 12.29}, {'connected_gene': 'ZBTB6', 'score': 9.99}, {'connected_gene': 'STRBP', 'score': 8.06}, {'connected_gene': 'LOC105376265', 'score': 0.77}, {'connected_gene': 'CRB2', 'score': 0.31}]
chr9 GH09I123224 123224569 123226723 0.89 [{'connected_gene': 'STRBP', 'score': 11.58}, {'connected_gene': 'MIR600HG', 'score': 11.31}, {'connected_gene': 'MIR600', 'score': 11.31}, {'connected_gene': 'RABGAP1', 'score': 7.84}, {'connected_gene': 'GC09M123183', 'score': 0.14}, {'connected_gene': 'PIR44660', 'score': 0.14}]
chr9 GH09I123333 123333600 123334325 0.52 [{'connected_gene': 'STRBP', 'score': 11.91}, {'connected_gene': 'MIR600HG', 'score': 10.84}, {'connected_gene': 'MIR600', 'score': 10.84}, {'connected_gene': 'LOC105376265', 'score': 0.39}, {'connected_gene': 'CRB2', 'score': 0.34}]
chr9 GH09I123302 123302322 123303438 1.03 [{'connected_gene': 'STRBP', 'score': 11.42}, {'connected_gene': 'MIR600HG', 'score': 10.71}, {'connected_gene': 'MIR600', 'score': 10.71}, {'connected_gene': 'GC09M123300', 'score': 0.77}, {'connected_gene': 'LOC105376265', 'score': 0.37}]
chr9 GH09I123232 123232106 123232901 0.2 [{'connected_gene': 'STRBP', 'score': 11.73}, {'connected_gene': 'MIR600HG', 'score': 11.21}, {'connected_gene': 'MIR600', 'score': 11.21}, {'connected_gene': 'GC09M123183', 'score': 0.14}, {'connected_gene': 'PIR44660', 'score': 0.14}]
chr9 GH09I123342 123342104 123344986 1.5 [{'connected_gene': 'STRBP', 'score': 7.24}, {'connected_gene': 'MIR600HG', 'score': 4.23}, {'connected_gene': 'CRB2', 'score': 0.39}, {'connected_gene': 'LOC105376265', 'score': 0.34}]
chr9 GH09I123239 123239916 123240009 0.44 [{'connected_gene': 'STRBP', 'score': 14.44}, {'connected_gene': 'MIR600', 'score': 10.76}, {'connected_gene': 'MIR600HG', 'score': 10.76}, {'connected_gene': 'OR1L6', 'score': 4.22}, {'connected_gene': 'GPR21', 'score': 2.22}, {'connected_gene': 'RC3H2', 'score': 1.46}, {'connected_gene': 'ZBTB26', 'score': 1.42}, {'connected_gene': 'ZBTB6', 'score': 1.23}, {'connected_gene': 'GC09M123183', 'score': 0.13}, {'connected_gene': 'PIR44660', 'score': 0.13}]
chr9 GH09I123097 123097035 123097069 0.2 [{'connected_gene': 'STRBP', 'score': 10.59}, {'connected_gene': 'MIR600', 'score': 0.39}, {'connected_gene': 'LOC100422501', 'score': 0.29}, {'connected_gene': 'RABGAP1', 'score': 0.1}]
chr9 GH09I123098 123097351 123098583 0.2 [{'connected_gene': 'STRBP', 'score': 10.77}, {'connected_gene': 'MIR600', 'score': 0.39}, {'connected_gene': 'LOC100422501', 'score': 0.29}, {'connected_gene': 'RABGAP1', 'score': 0.1}]
chr9 GH09I123120 123120956 123121949 0.59 [{'connected_gene': 'STRBP', 'score': 9.88}, {'connected_gene': 'SNORD90', 'score': 9.42}, {'connected_gene': 'RABGAP1', 'score': 6.39}, {'connected_gene': 'GC09M123183', 'score': 0.77}, {'connected_gene': 'PIR44660', 'score': 0.77}]
chr9 GH09I123296 123296232 123298386 0.78 [{'connected_gene': 'STRBP', 'score': 11.96}, {'connected_gene': 'ZBTB26', 'score': 11.53}, {'connected_gene': 'MIR600HG', 'score': 10.33}, {'connected_gene': 'MIR600', 'score': 10.33}, {'connected_gene': 'RABGAP1', 'score': 6.66}, {'connected_gene': 'GC09M123300', 'score': 0.77}]
chr9 GH09I123233 123233648 123236184 0.65 [{'connected_gene': 'STRBP', 'score': 12.13}, {'connected_gene': 'CRB2', 'score': 11.52}, {'connected_gene': 'MIR600HG', 'score': 11.21}, {'connected_gene': 'MIR600', 'score': 11.21}, {'connected_gene': 'RABGAP1', 'score': 5.04}, {'connected_gene': 'GC09M123183', 'score': 0.13}, {'connected_gene': 'PIR44660', 'score': 0.13}]
chr9 GH09I123345 123345429 123346422 0.85 [{'connected_gene': 'STRBP', 'score': 6.67}, {'connected_gene': 'CRB2', 'score': 0.44}, {'connected_gene': 'LOC105376265', 'score': 0.34}]
chr9 GH09I123095 123095001 123096485 0.75 [{'connected_gene': 'STRBP', 'score': 10.59}, {'connected_gene': 'RABGAP1', 'score': 8.0}, {'connected_gene': 'MIR600', 'score': 0.37}, {'connected_gene': 'LOC100422501', 'score': 0.29}]
chr9 GH09I123706 123706007 123706099 0.24 [{'connected_gene': 'STRBP', 'score': 1.69}, {'connected_gene': 'ENSG00000230826', 'score': 0.29}, {'connected_gene': 'LOC105376266', 'score': 0.12}, {'connected_gene': 'DENND1A', 'score': 0.07}]
chr9 GH09I123335 123335071 123337114 1.17 [{'connected_gene': 'STRBP', 'score': 5.86}, {'connected_gene': 'LOC105376265', 'score': 0.39}, {'connected_gene': 'CRB2', 'score': 0.37}]
chr9 GH09I123267 123267600 123269438 1.97 [{'connected_gene': 'STRBP', 'score': 550.77}, {'connected_gene': 'GC09M123183', 'score': 0.11}, {'connected_gene': 'PIR44660', 'score': 0.11}]
chr9 GH09I123131 123131362 123131491 0.49 [{'connected_gene': 'STRBP', 'score': 10.44}, {'connected_gene': 'GC09M123183', 'score': 0.39}, {'connected_gene': 'PIR44660', 'score': 0.39}]
chr9 GH09I122826 122826067 122829236 2.26 [{'connected_gene': 'PDCL', 'score': 550.77}, {'connected_gene': 'MORN5', 'score': 5.03}, {'connected_gene': 'STRBP', 'score': 4.21}, {'connected_gene': 'GC09M122816', 'score': 0.39}]
chr9 GH09I123379 123379007 123384885 0.46 [{'connected_gene': 'CRB2', 'score': 20.94}, {'connected_gene': 'MIR601', 'score': 12.68}, {'connected_gene': 'DENND1A', 'score': 12.37}, {'connected_gene': 'MIR600HG', 'score': 10.71}, {'connected_gene': 'MIR600', 'score': 10.71}, {'connected_gene': 'STRBP', 'score': 10.25}, {'connected_gene': 'GC09P123401', 'score': 0.37}]
chr9 GH09I123375 123375438 123376786 0.96 [{'connected_gene': 'CRB2', 'score': 19.55}, {'connected_gene': 'MIR601', 'score': 12.65}, {'connected_gene': 'DENND1A', 'score': 12.37}, {'connected_gene': 'STRBP', 'score': 4.63}, {'connected_gene': 'GC09P123401', 'score': 0.31}]
chr9 GH09I123355 123355425 123361615 1.88 [{'connected_gene': 'CRB2', 'score': 555.91}, {'connected_gene': 'STRBP', 'score': 15.93}, {'connected_gene': 'MIR601', 'score': 12.38}, {'connected_gene': 'DENND1A', 'score': 12.14}, {'connected_gene': 'MIR600HG', 'score': 10.82}, {'connected_gene': 'MIR600', 'score': 10.82}, {'connected_gene': 'GC09P123401', 'score': 0.26}]
chr9 GH09I123352 123352350 123353649 0.31 [{'connected_gene': 'CRB2', 'score': 555.99}, {'connected_gene': 'STRBP', 'score': 6.27}, {'connected_gene': 'LOC105376265', 'score': 0.29}]
chr9 GH09I123353 123353831 123354633 1.46 [{'connected_gene': 'CRB2', 'score': 550.77}, {'connected_gene': 'STRBP', 'score': 4.48}, {'connected_gene': 'LOC105376265', 'score': 0.29}]
chr9 GH09I123171 123171921 123171934 0.22 [{'connected_gene': 'OR1L4', 'score': 9.03}, {'connected_gene': 'OR1L6', 'score': 4.08}, {'connected_gene': 'GPR21', 'score': 2.77}, {'connected_gene': 'GC09M123183', 'score': 0.23}, {'connected_gene': 'PIR44660', 'score': 0.23}, {'connected_gene': 'STRBP', 'score': 0.15}]
chr9 GH09I123108 123108492 123112901 0.85 [{'connected_gene': 'PIR57287', 'score': 550.77}, {'connected_gene': 'PIR45965', 'score': 550.77}, {'connected_gene': 'MIR600', 'score': 550.77}, {'connected_gene': 'GC09M123179', 'score': 550.77}, {'connected_gene': 'RABGAP1', 'score': 7.84}, {'connected_gene': 'GC09M123184', 'score': 0.77}, {'connected_gene': 'PIR33429', 'score': 0.77}, {'connected_gene': 'MIR600HG', 'score': 0.77}, {'connected_gene': 'LOC100422501', 'score': 0.25}, {'connected_gene': 'STRBP', 'score': 0.1}]
chr9 GH09I123366 123366262 123366391 0.63 [{'connected_gene': 'ENSG00000261094', 'score': 18.28}, {'connected_gene': 'ZBTB26', 'score': 13.3}, {'connected_gene': 'MIR601', 'score': 12.39}, {'connected_gene': 'DENND1A', 'score': 12.14}, {'connected_gene': 'MIR600', 'score': 10.82}, {'connected_gene': 'MIR600HG', 'score': 10.82}, {'connected_gene': 'STRBP', 'score': 10.57}, {'connected_gene': 'CRB2', 'score': 0.39}, {'connected_gene': 'GC09P123401', 'score': 0.29}]
chr9 GH09I123299 123299310 123301300 0.83 [{'connected_gene': 'GC09M123300', 'score': 550.77}, {'connected_gene': 'ZBTB26', 'score': 11.65}, {'connected_gene': 'STRBP', 'score': 11.57}, {'connected_gene': 'ENSG00000261094', 'score': 11.51}, {'connected_gene': 'MIR600HG', 'score': 10.33}, {'connected_gene': 'MIR600', 'score': 10.33}]
chr9 GH09I123121 123120727 123120931 0.31 [{'connected_gene': 'GC09M123183', 'score': 550.77}, {'connected_gene': 'PIR44660', 'score': 550.77}, {'connected_gene': 'STRBP', 'score': 9.88}, {'connected_gene': 'SNORD90', 'score': 9.42}]