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
ENST00000524325 [[143293440, 143293674], [143310833, 143310940], [143356141, 143356224], [143365773, 143365846], [143381846, 143382005], [143395744, 143395801], [143396363, 143396450], [143399904, 143399995], [143412261, 143412331], [143413114, 143413192], [143425326, 143425833], [143427103, 143427253], [143435997, 143436124], [143484464, 143484601]] [[143310844, 143310940], [143356141, 143356224], [143365773, 143365846], [143381846, 143382005], [143395744, 143395801], [143396363, 143396450], [143399904, 143399995], [143412261, 143412331], [143413114, 143413192], [143425326, 143425833], [143427103, 143427253], [143435997, 143436085]]
ENST00000307180 [[143293441, 143293674], [143310833, 143310940], [143356141, 143356224], [143365773, 143365846], [143381846, 143382005], [143395744, 143395801], [143396363, 143396453], [143399904, 143399995], [143412261, 143412331], [143413114, 143413192], [143425326, 143425833], [143427103, 143427253], [143435997, 143436124], [143484464, 143484543]] [[143310844, 143310940], [143356141, 143356224], [143365773, 143365846], [143381846, 143382005], [143395744, 143395801], [143396363, 143396453], [143399904, 143399995], [143412261, 143412331], [143413114, 143413192], [143425326, 143425833], [143427103, 143427253], [143435997, 143436085]]
ENST00000520166 [[143293527, 143293674], [143310833, 143310940], [143356141, 143356224], [143365773, 143365846], [143381846, 143382008], [143395744, 143395801], [143396363, 143396450], [143399904, 143399995], [143412261, 143412331], [143413114, 143413192], [143425326, 143425833], [143427103, 143427253], [143435997, 143436124]] [[143310844, 143310940], [143356141, 143356224], [143365773, 143365846], [143381846, 143382008], [143395744, 143395801], [143396363, 143396450], [143399904, 143399995], [143412261, 143412331], [143413114, 143413192], [143425326, 143425833], [143427103, 143427253], [143435997, 143436085]]
ENST00000519651 [[143351845, 143353052], [143356141, 143356224], [143365773, 143365846], [143381846, 143382008], [143395744, 143395801], [143396363, 143396450], [143399904, 143399995], [143412261, 143412331], [143413114, 143413192], [143435997, 143436124], [143484464, 143484529]] [[143353007, 143353052], [143356141, 143356224], [143365773, 143365846], [143381846, 143382008], [143395744, 143395801], [143396363, 143396450], [143399904, 143399995], [143412261, 143412331], [143413114, 143413192], [143435997, 143436085]]
ENST00000518928 [[143381476, 143382005], [143395744, 143395801], [143396363, 143396453], [143399904, 143399995], [143407413, 143407586]] None
ENST00000521825 [[143352927, 143353052], [143356141, 143356224], [143361220, 143361358]] None
ENST00000520462 [[143425620, 143425833], [143427103, 143427253], [143435997, 143436124], [143484150, 143484249]] [[143425620, 143425833], [143427103, 143427253], [143435997, 143436085]]
ENST00000518720 [[143425713, 143425833], [143427103, 143427253], [143435997, 143436124], [143447271, 143447378], [143484464, 143484543]] [[143425713, 143425833], [143427103, 143427253], [143435997, 143436124], [143447271, 143447280]]
NM_145003 [[143293440, 143293674], [143310833, 143310940], [143356141, 143356224], [143365773, 143365846], [143381846, 143382005], [143395744, 143395801], [143396363, 143396453], [143399904, 143399995], [143412261, 143412331], [143413114, 143413192], [143425326, 143425833], [143427103, 143427253], [143435997, 143436124], [143484464, 143484610]] [[143310844, 143310940], [143356141, 143356224], [143365773, 143365846], [143381846, 143382005], [143395744, 143395801], [143396363, 143396453], [143399904, 143399995], [143412261, 143412331], [143413114, 143413192], [143425326, 143425833], [143427103, 143427253], [143435997, 143436085]]
NM_001291931 [[143350822, 143353052], [143356141, 143356224], [143365773, 143365846], [143381846, 143382008], [143395744, 143395801], [143396363, 143396450], [143399904, 143399995], [143412261, 143412331], [143413114, 143413192], [143435997, 143436124], [143484464, 143484610]] [[143353007, 143353052], [143356141, 143356224], [143365773, 143365846], [143381846, 143382008], [143395744, 143395801], [143396363, 143396450], [143399904, 143399995], [143412261, 143412331], [143413114, 143413192], [143435997, 143436085]]
Promoter
Chrom Start End Description
chr8 143484483 143484555 CAGE_peak_1_at_TSNARE1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I142469 142469640 142472723 1.23 [{'connected_gene': 'JRK', 'score': 12.37}, {'connected_gene': 'ZNF696', 'score': 11.41}, {'connected_gene': 'TSNARE1', 'score': 9.84}, {'connected_gene': 'ADGRB1', 'score': 0.34}, {'connected_gene': 'MROH4P', 'score': 0.14}]
chr8 GH08I142599 142599440 142599589 0.52 [{'connected_gene': 'JRK', 'score': 12.47}, {'connected_gene': 'ZNF696', 'score': 11.41}, {'connected_gene': 'TSNARE1', 'score': 9.72}, {'connected_gene': 'ARC', 'score': 0.39}, {'connected_gene': 'MROH4P', 'score': 0.34}]
chr8 GH08I142395 142395520 142395649 0.46 [{'connected_gene': 'JRK', 'score': 12.36}, {'connected_gene': 'ZNF696', 'score': 11.41}, {'connected_gene': 'TSNARE1', 'score': 10.07}, {'connected_gene': 'GC08P142321', 'score': 0.19}]
chr8 GH08I142213 142213240 142213329 0.31 [{'connected_gene': 'LINC00051', 'score': 0.39}, {'connected_gene': 'RN7SL260P', 'score': 0.29}, {'connected_gene': 'GC08M142249', 'score': 0.29}, {'connected_gene': 'TSNARE1', 'score': 0.08}]
chr8 GH08I142216 142215640 142215789 0.2 [{'connected_gene': 'LINC00051', 'score': 0.37}, {'connected_gene': 'RN7SL260P', 'score': 0.29}, {'connected_gene': 'GC08M142249', 'score': 0.29}, {'connected_gene': 'TSNARE1', 'score': 0.09}]
chr8 GH08I142214 142213349 142213389 0.38 [{'connected_gene': 'LINC00051', 'score': 0.37}, {'connected_gene': 'RN7SL260P', 'score': 0.29}, {'connected_gene': 'GC08M142249', 'score': 0.29}, {'connected_gene': 'TSNARE1', 'score': 0.09}]
chr8 GH08I142451 142451037 142451361 0.83 [{'connected_gene': 'ADGRB1', 'score': 555.12}, {'connected_gene': 'LYNX1', 'score': 10.23}, {'connected_gene': 'TSNARE1', 'score': 1.76}, {'connected_gene': 'MROH4P', 'score': 0.13}]
chr8 GH08I142272 142272287 142272457 0.56 [{'connected_gene': 'ADGRB1', 'score': 1.7}, {'connected_gene': 'TSNARE1', 'score': 1.66}, {'connected_gene': 'PIR44902', 'score': 0.77}, {'connected_gene': 'RN7SL260P', 'score': 0.34}, {'connected_gene': 'GC08M142249', 'score': 0.34}]
chr8 GH08I142447 142447560 142447938 0.96 [{'connected_gene': 'ADGRB1', 'score': 550.77}, {'connected_gene': 'TSNARE1', 'score': 3.45}, {'connected_gene': 'ENSG00000261693', 'score': 0.26}]
chr8 GH08I142234 142234388 142236407 0.71 [{'connected_gene': 'ADGRB1', 'score': 6.65}, {'connected_gene': 'RN7SL260P', 'score': 0.39}, {'connected_gene': 'GC08M142249', 'score': 0.39}, {'connected_gene': 'LINC00051', 'score': 0.28}, {'connected_gene': 'TSNARE1', 'score': 0.1}]
chr8 GH08I142725 142725628 142728829 2.54 [{'connected_gene': 'THEM6', 'score': 556.54}, {'connected_gene': 'ENSG00000253806', 'score': 550.77}, {'connected_gene': 'LOC100288181', 'score': 550.77}, {'connected_gene': 'LY6K', 'score': 44.33}, {'connected_gene': 'JRK', 'score': 32.96}, {'connected_gene': 'ZNF623', 'score': 22.96}, {'connected_gene': 'ZNF696', 'score': 20.92}, {'connected_gene': 'ENSG00000255050', 'score': 13.26}, {'connected_gene': 'ZC3H3', 'score': 12.47}, {'connected_gene': 'GLI4', 'score': 11.78}, {'connected_gene': 'ZNF707', 'score': 10.88}, {'connected_gene': 'AK3P2', 'score': 10.81}, {'connected_gene': 'EEF1D', 'score': 10.21}, {'connected_gene': 'TSNARE1', 'score': 9.69}, {'connected_gene': 'LYNX1', 'score': 5.66}, {'connected_gene': 'PSCA', 'score': 4.86}]
chr8 GH08I142990 142990820 142995179 0.96 [{'connected_gene': 'C8orf31', 'score': 18.37}, {'connected_gene': 'LY6E-DT', 'score': 13.9}, {'connected_gene': 'CYP11B2', 'score': 11.05}, {'connected_gene': 'LY6D', 'score': 10.67}, {'connected_gene': 'ENSG00000253715', 'score': 10.67}, {'connected_gene': 'TSNARE1', 'score': 4.95}, {'connected_gene': 'LYPD2', 'score': 3.03}, {'connected_gene': 'CDC42P3', 'score': 0.77}, {'connected_gene': 'LOC105375794', 'score': 0.2}]
chr8 GH08I142614 142614040 142615629 1.9 [{'connected_gene': 'ARC', 'score': 556.33}, {'connected_gene': 'JRK', 'score': 30.73}, {'connected_gene': 'ZNF696', 'score': 11.41}, {'connected_gene': 'TSNARE1', 'score': 9.71}, {'connected_gene': 'ENSG00000261044', 'score': 0.44}]
chr8 GH08I142452 142452580 142453260 1.73 [{'connected_gene': 'TSNARE1', 'score': 17.79}, {'connected_gene': 'JRK', 'score': 12.37}, {'connected_gene': 'ZNF696', 'score': 11.41}, {'connected_gene': 'LYNX1', 'score': 2.02}, {'connected_gene': 'ADGRB1', 'score': 1.9}, {'connected_gene': 'MROH4P', 'score': 0.13}]
chr8 GH08I142368 142368204 142369037 0.91 [{'connected_gene': 'TSNARE1', 'score': 14.62}, {'connected_gene': 'JRK', 'score': 12.36}, {'connected_gene': 'ENSG00000261693', 'score': 11.84}, {'connected_gene': 'ZNF696', 'score': 11.41}, {'connected_gene': 'GC08P142321', 'score': 0.25}]
chr8 GH08I142401 142401562 142404289 1.98 [{'connected_gene': 'TSNARE1', 'score': 573.36}, {'connected_gene': 'ENSG00000261693', 'score': 563.2}, {'connected_gene': 'JRK', 'score': 12.36}, {'connected_gene': 'ZNF696', 'score': 11.41}, {'connected_gene': 'GC08P142321', 'score': 0.18}]
chr8 GH08I142200 142200492 142201472 0.91 [{'connected_gene': 'TSNARE1', 'score': 3.56}, {'connected_gene': 'LINC00051', 'score': 0.77}, {'connected_gene': 'RN7SL260P', 'score': 0.25}, {'connected_gene': 'GC08M142249', 'score': 0.25}]
chr8 GH08I142325 142325086 142327574 0.65 [{'connected_gene': 'TSNARE1', 'score': 24.15}, {'connected_gene': 'ADGRB1', 'score': 10.32}, {'connected_gene': 'ENSG00000261693', 'score': 7.94}, {'connected_gene': 'GC08P142321', 'score': 0.77}]
chr8 GH08I142382 142382010 142384159 1.11 [{'connected_gene': 'TSNARE1', 'score': 17.23}, {'connected_gene': 'ADGRB1', 'score': 4.6}, {'connected_gene': 'GC08P142321', 'score': 0.21}]
chr8 GH08I142453 142453546 142453695 0.74 [{'connected_gene': 'TSNARE1', 'score': 3.19}, {'connected_gene': 'CYP11B2', 'score': 1.49}, {'connected_gene': 'ADGRB1', 'score': 0.77}, {'connected_gene': 'MROH4P', 'score': 0.13}]
chr8 GH08I141430 141430881 141431153 0.66 [{'connected_gene': 'TSNARE1', 'score': 9.66}, {'connected_gene': 'FP248', 'score': 0.77}, {'connected_gene': 'PIR43419', 'score': 0.37}, {'connected_gene': 'PTP4A3', 'score': 0.28}]
chr8 GH08I141625 141625121 141625270 0.8 [{'connected_gene': 'TSNARE1', 'score': 9.66}, {'connected_gene': 'GC08P141529', 'score': 0.15}, {'connected_gene': 'MIR1302-7', 'score': 0.1}]
chr8 GH08I142030 142030140 142031373 0.93 [{'connected_gene': 'TSNARE1', 'score': 1.55}, {'connected_gene': 'GC08M142020', 'score': 0.77}, {'connected_gene': 'ENSG00000261710', 'score': 0.22}]
chr8 GH08I142340 142339810 142341000 1 [{'connected_gene': 'TSNARE1', 'score': 20.9}, {'connected_gene': 'ENSG00000261693', 'score': 12.14}, {'connected_gene': 'GC08P142321', 'score': 0.37}]
chr8 GH08I142393 142393840 142394122 0.91 [{'connected_gene': 'TSNARE1', 'score': 0.44}, {'connected_gene': 'GC08P142321', 'score': 0.19}]
chr8 GH08I142230 142230572 142230751 0.39 [{'connected_gene': 'RN7SL260P', 'score': 0.37}, {'connected_gene': 'GC08M142249', 'score': 0.37}, {'connected_gene': 'LINC00051', 'score': 0.29}, {'connected_gene': 'TSNARE1', 'score': 0.09}]
chr8 GH08I141433 141433707 141434497 0.77 [{'connected_gene': 'FP248', 'score': 555.86}, {'connected_gene': 'TSNARE1', 'score': 9.66}, {'connected_gene': 'PTK2', 'score': 4.96}, {'connected_gene': 'PIR43419', 'score': 0.34}, {'connected_gene': 'MROH5', 'score': 0.19}]
chr8 GH08I142215 142213972 142215312 0.31 [{'connected_gene': 'ENSG00000261693', 'score': 4.88}, {'connected_gene': 'LINC00051', 'score': 0.37}, {'connected_gene': 'RN7SL260P', 'score': 0.29}, {'connected_gene': 'GC08M142249', 'score': 0.29}, {'connected_gene': 'TSNARE1', 'score': 0.09}]
chr8 GH08I142322 142322710 142323145 0.27 [{'connected_gene': 'GC08P142321', 'score': 550.77}, {'connected_gene': 'ADGRB1', 'score': 13.45}, {'connected_gene': 'TSNARE1', 'score': 12.65}]
chr8 GH08I142298 142298180 142298329 0.43 [{'connected_gene': 'PIR44902', 'score': 0.34}, {'connected_gene': 'GC08P142321', 'score': 0.34}, {'connected_gene': 'TSNARE1', 'score': 0.14}]
chr8 GH08I142398 142398834 142400355 0.8 [{'connected_gene': 'ENSG00000261693', 'score': 12.71}, {'connected_gene': 'TSNARE1', 'score': 0.77}, {'connected_gene': 'GC08P142321', 'score': 0.18}]
chr8 GH08I142339 142339600 142339801 0.31 [{'connected_gene': 'GC08P142321', 'score': 0.37}, {'connected_gene': 'TSNARE1', 'score': 0.21}]
chr8 GH08I142324 142323689 142323898 0.55 [{'connected_gene': 'GC08P142321', 'score': 550.77}, {'connected_gene': 'TSNARE1', 'score': 3.68}]
chr8 GH08I142323 142322105 142322229 0.27 [{'connected_gene': 'GC08P142321', 'score': 550.77}, {'connected_gene': 'TSNARE1', 'score': 2.63}]
chr8 GH08I142277 142277359 142278209 0.31 [{'connected_gene': 'PIR44902', 'score': 550.77}, {'connected_gene': 'GC08P142321', 'score': 0.26}, {'connected_gene': 'TSNARE1', 'score': 0.13}]
chr8 GH08I141410 141410013 141419430 2.01 [{'connected_gene': 'PIR43419', 'score': 550.77}, {'connected_gene': 'FP248', 'score': 11.89}, {'connected_gene': 'TSNARE1', 'score': 9.66}, {'connected_gene': 'LINC01300', 'score': 5.78}, {'connected_gene': 'ENSG00000244998', 'score': 4.72}, {'connected_gene': 'PTP4A3', 'score': 3.08}]