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
ENST00000589627 [[46009836, 46010145], [46010819, 46011034], [46020920, 46021092]] [[46011029, 46011034], [46020920, 46021092]]
ENST00000245932 [[46010673, 46011034], [46020920, 46021092], [46021186, 46021352], [46024579, 46024664], [46025425, 46025475], [46025597, 46025839], [46025975, 46026076], [46026901, 46026953], [46027098, 46027135], [46027354, 46027400], [46027827, 46027918], [46029203, 46029261], [46029397, 46030241]] [[46011029, 46011034], [46020920, 46021092], [46021186, 46021352], [46024579, 46024664], [46025425, 46025475], [46025597, 46025839], [46025975, 46026076], [46026901, 46026953], [46027098, 46027135], [46027354, 46027400], [46027827, 46027918], [46029203, 46029261], [46029397, 46029435]]
ENST00000592139 [[46010745, 46011034], [46020920, 46021008], [46025792, 46025839]] [[46011029, 46011034], [46020920, 46021008], [46025792, 46025839]]
ENST00000590603 [[46010748, 46011034], [46025425, 46025475], [46025597, 46025649]] [[46011029, 46011034], [46025425, 46025475], [46025597, 46025649]]
ENST00000586014 [[46010763, 46011034], [46020920, 46021092], [46021186, 46021221], [46025780, 46025839], [46025975, 46026076], [46026901, 46026953], [46027098, 46027135], [46027354, 46027400], [46027827, 46027918], [46029203, 46029261], [46029397, 46030200]] [[46011029, 46011034], [46020920, 46021092], [46021186, 46021221], [46025780, 46025839], [46025975, 46026016]]
ENST00000586619 [[46010767, 46011034], [46020920, 46021092], [46021186, 46021352], [46025425, 46025475]] None
ENST00000588482 [[46025813, 46025839], [46025975, 46026076], [46026901, 46026953], [46027098, 46027135], [46027354, 46027400], [46027827, 46027918], [46028135, 46028335], [46029203, 46029261], [46029397, 46029590]] [[46025813, 46025839], [46025975, 46026076], [46026901, 46026953], [46027098, 46027135], [46027354, 46027400], [46027827, 46027918], [46028135, 46028333]]
ENST00000590459 [[46025991, 46026076], [46026901, 46027221]] None
ENST00000588463 [[46026046, 46026076], [46026901, 46026953], [46027098, 46027671]] None
ENST00000588273 [[46027294, 46027400], [46027827, 46027918], [46029203, 46029261], [46029397, 46029460]] None
ENST00000587444 [[46029051, 46029261], [46029397, 46029427]] None
NM_003370 [[46010687, 46011034], [46020920, 46021092], [46021186, 46021352], [46024579, 46024664], [46025425, 46025475], [46025597, 46025839], [46025975, 46026076], [46026901, 46026953], [46027098, 46027135], [46027354, 46027400], [46027827, 46027918], [46029203, 46029261], [46029397, 46030241]] [[46011029, 46011034], [46020920, 46021092], [46021186, 46021352], [46024579, 46024664], [46025425, 46025475], [46025597, 46025839], [46025975, 46026076], [46026901, 46026953], [46027098, 46027135], [46027354, 46027400], [46027827, 46027918], [46029203, 46029261], [46029397, 46029435]]
Promoter
Chrom Start End Description
chr19 46010676 46010772 CAGE_peak_1_at_VASP_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I045553 45553213 45554238 0.86 [{'connected_gene': 'OPA3', 'score': 13.42}, {'connected_gene': 'GC19P045560', 'score': 0.44}, {'connected_gene': 'VASP', 'score': 0.25}]
chr19 GH19I045543 45543590 45544569 0.72 [{'connected_gene': 'OPA3', 'score': 5.07}, {'connected_gene': 'GC19P045560', 'score': 0.37}, {'connected_gene': 'VASP', 'score': 0.28}]
chr19 GH19I045427 45427183 45430283 1.98 [{'connected_gene': 'ZNF180', 'score': 21.8}, {'connected_gene': 'CD3EAP', 'score': 19.93}, {'connected_gene': 'ENSG00000268810', 'score': 19.0}, {'connected_gene': 'CCDC61', 'score': 16.22}, {'connected_gene': 'CLASRP', 'score': 13.38}, {'connected_gene': 'SYMPK', 'score': 12.68}, {'connected_gene': 'QPCTL', 'score': 12.19}, {'connected_gene': 'ERCC1', 'score': 12.01}, {'connected_gene': 'DM1-AS', 'score': 9.98}, {'connected_gene': 'ENSG00000269148', 'score': 9.7}, {'connected_gene': 'FOSB', 'score': 6.56}, {'connected_gene': 'RELB', 'score': 5.3}, {'connected_gene': 'VASP', 'score': 2.83}, {'connected_gene': 'GIPR', 'score': 2.39}, {'connected_gene': 'MIR6088', 'score': 0.44}, {'connected_gene': 'PIR48099', 'score': 0.39}]
chr19 GH19I045526 45526109 45526912 0.94 [{'connected_gene': 'VASP', 'score': 0.37}, {'connected_gene': 'GC19P045560', 'score': 0.29}, {'connected_gene': 'OPA3', 'score': 0.18}]
chr19 GH19I045505 45505037 45510654 2.61 [{'connected_gene': 'VASP', 'score': 581.45}, {'connected_gene': 'CCDC61', 'score': 35.44}, {'connected_gene': 'CLASRP', 'score': 34.67}, {'connected_gene': 'PPM1N', 'score': 27.87}, {'connected_gene': 'ENSG00000269148', 'score': 26.32}, {'connected_gene': 'FBXO46', 'score': 23.69}, {'connected_gene': 'ENSG00000268810', 'score': 13.43}, {'connected_gene': 'SYMPK', 'score': 12.04}, {'connected_gene': 'BLOC1S3', 'score': 1.87}, {'connected_gene': 'ZNF296', 'score': 1.3}, {'connected_gene': 'GC19P045505', 'score': 0.77}, {'connected_gene': 'GC19P045560', 'score': 0.23}]
chr19 GH19I045571 45571215 45572080 0.31 [{'connected_gene': 'VASP', 'score': 12.04}, {'connected_gene': 'EML2', 'score': 11.99}, {'connected_gene': 'RN7SL836P', 'score': 11.98}, {'connected_gene': 'GIPR', 'score': 11.95}, {'connected_gene': 'RTN2', 'score': 11.74}, {'connected_gene': 'PPM1N', 'score': 11.72}, {'connected_gene': 'MIR330', 'score': 11.64}, {'connected_gene': 'MIR642A', 'score': 11.41}, {'connected_gene': 'ERCC1', 'score': 11.31}, {'connected_gene': 'CD3EAP', 'score': 10.07}, {'connected_gene': 'PPP1R13L', 'score': 10.07}, {'connected_gene': 'OPA3', 'score': 9.57}, {'connected_gene': 'GC19P045560', 'score': 0.39}, {'connected_gene': 'GPR4', 'score': 0.29}]
chr19 GH19I045465 45465091 45465350 0.51 [{'connected_gene': 'VASP', 'score': 14.33}, {'connected_gene': 'PPM1N', 'score': 11.67}, {'connected_gene': 'RTN2', 'score': 11.62}, {'connected_gene': 'RELB', 'score': 6.64}, {'connected_gene': 'FOSB', 'score': 4.52}, {'connected_gene': 'CLASRP', 'score': 2.67}, {'connected_gene': 'GIPR', 'score': 1.51}, {'connected_gene': 'ERCC1', 'score': 0.39}, {'connected_gene': 'MIR6088', 'score': 0.31}]
chr19 GH19I045510 45510978 45511359 0.87 [{'connected_gene': 'VASP', 'score': 12.01}, {'connected_gene': 'CLASRP', 'score': 3.85}, {'connected_gene': 'FBXO46', 'score': 1.57}, {'connected_gene': 'ZNF296', 'score': 1.16}, {'connected_gene': 'GC19P045560', 'score': 0.25}]
chr19 GH19I045524 45524883 45525032 0.66 [{'connected_gene': 'VASP', 'score': 0.37}, {'connected_gene': 'GC19P045560', 'score': 0.28}]
chr19 GH19I045518 45518523 45518672 0.66 [{'connected_gene': 'VASP', 'score': 0.39}, {'connected_gene': 'GC19P045560', 'score': 0.26}]
chr19 GH19I045525 45524550 45524618 0.58 [{'connected_gene': 'VASP', 'score': 0.37}, {'connected_gene': 'GC19P045560', 'score': 0.28}]
chr19 GH19I045567 45567979 45570401 1.29 [{'connected_gene': 'CCDC61', 'score': 17.54}, {'connected_gene': 'SYMPK', 'score': 14.06}, {'connected_gene': 'OPA3', 'score': 13.02}, {'connected_gene': 'CLASRP', 'score': 12.14}, {'connected_gene': 'BLOC1S3', 'score': 12.08}, {'connected_gene': 'VASP', 'score': 12.05}, {'connected_gene': 'ENSG00000269148', 'score': 11.72}, {'connected_gene': 'FBXO46', 'score': 11.6}, {'connected_gene': 'RTN2', 'score': 11.58}, {'connected_gene': 'PPM1N', 'score': 11.57}, {'connected_gene': 'MIR330', 'score': 11.45}, {'connected_gene': 'EML2', 'score': 11.44}, {'connected_gene': 'MIR642A', 'score': 11.4}, {'connected_gene': 'ERCC1', 'score': 10.86}, {'connected_gene': 'QPCTL', 'score': 10.64}, {'connected_gene': 'CD3EAP', 'score': 10.07}, {'connected_gene': 'PPP1R13L', 'score': 10.07}, {'connected_gene': 'GC19P045560', 'score': 0.44}, {'connected_gene': 'GPR4', 'score': 0.29}]
chr19 GH19I045439 45439001 45441599 1.74 [{'connected_gene': 'RELB', 'score': 16.63}, {'connected_gene': 'FOSB', 'score': 7.2}, {'connected_gene': 'CD3EAP', 'score': 5.39}, {'connected_gene': 'VASP', 'score': 4.89}, {'connected_gene': 'GIPR', 'score': 2.95}, {'connected_gene': 'CLASRP', 'score': 2.32}, {'connected_gene': 'BLOC1S3', 'score': 1.62}, {'connected_gene': 'MIR6088', 'score': 0.77}, {'connected_gene': 'ERCC1', 'score': 0.28}]
chr19 GH19I045250 45250689 45253580 2.22 [{'connected_gene': 'MARK4', 'score': 570.57}, {'connected_gene': 'ZNF235', 'score': 30.24}, {'connected_gene': 'MRPS15P2', 'score': 17.63}, {'connected_gene': 'ZNF180', 'score': 17.32}, {'connected_gene': 'ZNF285', 'score': 14.85}, {'connected_gene': 'IRF2BP1', 'score': 12.94}, {'connected_gene': 'ZNF112', 'score': 12.57}, {'connected_gene': 'ERCC2', 'score': 10.69}, {'connected_gene': 'ENSG00000267114', 'score': 10.25}, {'connected_gene': 'RELB', 'score': 9.95}, {'connected_gene': 'NOVA2', 'score': 9.82}, {'connected_gene': 'VASP', 'score': 2.97}, {'connected_gene': 'CLASRP', 'score': 1.63}, {'connected_gene': 'EXOC3L2', 'score': 0.44}, {'connected_gene': 'GC19M045307', 'score': 0.22}]
chr19 GH19I045453 45453112 45457277 1.78 [{'connected_gene': 'FOSB', 'score': 17.35}, {'connected_gene': 'RELB', 'score': 9.28}, {'connected_gene': 'ERCC1', 'score': 8.37}, {'connected_gene': 'CD3EAP', 'score': 7.58}, {'connected_gene': 'VASP', 'score': 3.64}, {'connected_gene': 'CLASRP', 'score': 2.62}, {'connected_gene': 'GIPR', 'score': 1.73}, {'connected_gene': 'BLOC1S3', 'score': 1.38}, {'connected_gene': 'MIR6088', 'score': 0.37}]
chr19 GH19I045477 45477087 45479512 2.07 [{'connected_gene': 'ERCC1', 'score': 557.05}, {'connected_gene': 'PIR58452', 'score': 550.77}, {'connected_gene': 'TRU-TCA1-1', 'score': 550.77}, {'connected_gene': 'ZNF180', 'score': 37.3}, {'connected_gene': 'CCDC61', 'score': 20.48}, {'connected_gene': 'CD3EAP', 'score': 19.25}, {'connected_gene': 'IRF2BP1', 'score': 14.26}, {'connected_gene': 'CLASRP', 'score': 13.84}, {'connected_gene': 'PPP1R37', 'score': 13.8}, {'connected_gene': 'ENSG00000268810', 'score': 12.93}, {'connected_gene': 'PPM1N', 'score': 12.68}, {'connected_gene': 'CEACAM19', 'score': 12.22}, {'connected_gene': 'VASP', 'score': 11.92}, {'connected_gene': 'PPP1R13L', 'score': 11.7}, {'connected_gene': 'EML2', 'score': 10.98}, {'connected_gene': 'SNRPD2', 'score': 10.84}, {'connected_gene': 'ERCC2', 'score': 10.51}, {'connected_gene': 'PPP5C', 'score': 10.14}, {'connected_gene': 'MIR330', 'score': 10.06}, {'connected_gene': 'FOSB', 'score': 3.47}, {'connected_gene': 'RELB', 'score': 2.62}, {'connected_gene': 'GIPR', 'score': 2.57}, {'connected_gene': 'TRAPPC6A', 'score': 1.33}, {'connected_gene': 'FBXO46', 'score': 1.24}, {'connected_gene': 'GC19P045474', 'score': 0.77}]
chr19 GH19I045520 45520193 45524412 1.12 [{'connected_gene': 'PPM1N', 'score': 22.69}, {'connected_gene': 'OPA3', 'score': 5.48}, {'connected_gene': 'MARK4', 'score': 4.91}, {'connected_gene': 'VASP', 'score': 0.37}, {'connected_gene': 'GC19P045560', 'score': 0.28}]
chr19 GH19I045512 45512849 45516742 1.5 [{'connected_gene': 'PPM1N', 'score': 21.57}, {'connected_gene': 'VASP', 'score': 21.39}, {'connected_gene': 'CLASRP', 'score': 5.38}, {'connected_gene': 'MARK4', 'score': 4.45}, {'connected_gene': 'FOSB', 'score': 2.1}, {'connected_gene': 'BLOC1S3', 'score': 1.86}, {'connected_gene': 'GIPR', 'score': 1.46}, {'connected_gene': 'GC19P045560', 'score': 0.25}]
chr19 GH19I045517 45517200 45518479 0.52 [{'connected_gene': 'PPM1N', 'score': 22.45}, {'connected_gene': 'VASP', 'score': 0.39}, {'connected_gene': 'GC19P045560', 'score': 0.26}]
chr19 GH19I045547 45547930 45548937 0.64 [{'connected_gene': 'CLASRP', 'score': 17.83}, {'connected_gene': 'CCDC61', 'score': 15.86}, {'connected_gene': 'ENSG00000269148', 'score': 14.8}, {'connected_gene': 'ENSG00000268810', 'score': 13.43}, {'connected_gene': 'FBXO46', 'score': 10.14}, {'connected_gene': 'ERCC1', 'score': 4.85}, {'connected_gene': 'GC19P045560', 'score': 0.39}, {'connected_gene': 'VASP', 'score': 0.26}, {'connected_gene': 'OPA3', 'score': 0.23}]
chr19 GH19I045401 45401488 45407656 2.56 [{'connected_gene': 'CD3EAP', 'score': 580.45}, {'connected_gene': 'PPP1R13L', 'score': 554.58}, {'connected_gene': 'CCDC61', 'score': 79.13}, {'connected_gene': 'ZNF180', 'score': 71.0}, {'connected_gene': 'CLASRP', 'score': 61.45}, {'connected_gene': 'FBXO46', 'score': 58.33}, {'connected_gene': 'ENSG00000269148', 'score': 58.06}, {'connected_gene': 'IRF2BP1', 'score': 21.26}, {'connected_gene': 'ERCC1', 'score': 20.6}, {'connected_gene': 'ENSG00000268810', 'score': 20.45}, {'connected_gene': 'EML2', 'score': 12.8}, {'connected_gene': 'SYMPK', 'score': 12.03}, {'connected_gene': 'PPM1N', 'score': 11.98}, {'connected_gene': 'RTN2', 'score': 11.96}, {'connected_gene': 'VASP', 'score': 11.69}, {'connected_gene': 'ERCC2', 'score': 11.67}, {'connected_gene': 'DMWD', 'score': 11.34}, {'connected_gene': 'QPCTL', 'score': 11.32}, {'connected_gene': 'MIR330', 'score': 10.49}, {'connected_gene': 'ENSG00000259605', 'score': 10.33}, {'connected_gene': 'ENSG00000267114', 'score': 10.24}, {'connected_gene': 'APOE', 'score': 4.71}, {'connected_gene': 'KLC3', 'score': 4.5}]
chr19 GH19I045511 45511759 45512341 0.38 [{'connected_gene': 'EML2-AS1', 'score': 4.96}, {'connected_gene': 'PPM1N', 'score': 4.73}, {'connected_gene': 'VASP', 'score': 0.44}, {'connected_gene': 'GC19P045560', 'score': 0.25}]
chr19 GH19I045559 45559968 45561153 0.31 [{'connected_gene': 'GC19P045560', 'score': 550.77}, {'connected_gene': 'OPA3', 'score': 0.26}, {'connected_gene': 'VASP', 'score': 0.23}]
chr19 GH19I045466 45466964 45471228 2.27 [{'connected_gene': 'GC19P045469', 'score': 550.77}, {'connected_gene': 'FOSB', 'score': 550.77}, {'connected_gene': 'ZNF180', 'score': 28.95}, {'connected_gene': 'CLASRP', 'score': 27.63}, {'connected_gene': 'CCDC61', 'score': 25.38}, {'connected_gene': 'CD3EAP', 'score': 20.86}, {'connected_gene': 'FBXO46', 'score': 20.52}, {'connected_gene': 'ENSG00000269148', 'score': 14.79}, {'connected_gene': 'ENSG00000268810', 'score': 13.43}, {'connected_gene': 'BLOC1S3', 'score': 12.14}, {'connected_gene': 'PPP1R13L', 'score': 12.02}, {'connected_gene': 'RTN2', 'score': 11.91}, {'connected_gene': 'VASP', 'score': 11.87}, {'connected_gene': 'IGFL4', 'score': 10.6}, {'connected_gene': 'IRF2BP1', 'score': 10.09}, {'connected_gene': 'ERCC1', 'score': 7.97}, {'connected_gene': 'PPM1N', 'score': 5.78}]
chr19 GH19I045558 45558400 45558632 1.05 [{'connected_gene': 'ENSG00000268810', 'score': 10.99}, {'connected_gene': 'ERCC1', 'score': 10.04}, {'connected_gene': 'GC19P045560', 'score': 0.77}, {'connected_gene': 'OPA3', 'score': 0.26}, {'connected_gene': 'VASP', 'score': 0.23}]
chr19 GH19I045527 45527665 45529600 1.25 [{'connected_gene': 'ENSG00000268810', 'score': 25.37}, {'connected_gene': 'PPM1N', 'score': 22.26}, {'connected_gene': 'ENSG00000267114', 'score': 12.47}, {'connected_gene': 'CLASRP', 'score': 12.47}, {'connected_gene': 'IRF2BP1', 'score': 12.21}, {'connected_gene': 'QPCTL', 'score': 10.48}, {'connected_gene': 'CCDC61', 'score': 10.0}, {'connected_gene': 'VASP', 'score': 0.34}, {'connected_gene': 'GC19P045560', 'score': 0.29}, {'connected_gene': 'OPA3', 'score': 0.19}]
chr19 GH19I045442 45442121 45445799 1.88 [{'connected_gene': 'ENSG00000268810', 'score': 24.01}, {'connected_gene': 'CD3EAP', 'score': 22.9}, {'connected_gene': 'RELB', 'score': 18.34}, {'connected_gene': 'ZNF180', 'score': 17.32}, {'connected_gene': 'PPP1R13L', 'score': 13.71}, {'connected_gene': 'ERCC1', 'score': 13.32}, {'connected_gene': 'PPM1N', 'score': 13.29}, {'connected_gene': 'RTN2', 'score': 13.26}, {'connected_gene': 'CLASRP', 'score': 12.57}, {'connected_gene': 'FOSB', 'score': 10.15}, {'connected_gene': 'VASP', 'score': 6.86}, {'connected_gene': 'GIPR', 'score': 2.29}, {'connected_gene': 'BLOC1S3', 'score': 2.15}, {'connected_gene': 'MIR6088', 'score': 0.44}]
chr19 GH19I045471 45471563 45471712 0.63 [{'connected_gene': 'GC19P045469', 'score': 550.77}, {'connected_gene': 'CD3EAP', 'score': 12.02}, {'connected_gene': 'PPP1R13L', 'score': 12.02}, {'connected_gene': 'RTN2', 'score': 11.91}, {'connected_gene': 'VASP', 'score': 11.89}, {'connected_gene': 'FOSB', 'score': 0.77}, {'connected_gene': 'GC19P045474', 'score': 0.77}, {'connected_gene': 'ERCC1', 'score': 0.44}]
chr19 GH19I045474 45471803 45471952 0.69 [{'connected_gene': 'GC19P045469', 'score': 550.77}, {'connected_gene': 'CD3EAP', 'score': 12.02}, {'connected_gene': 'PPP1R13L', 'score': 12.02}, {'connected_gene': 'RTN2', 'score': 11.91}, {'connected_gene': 'VASP', 'score': 11.89}, {'connected_gene': 'FOSB', 'score': 0.77}, {'connected_gene': 'GC19P045474', 'score': 0.77}, {'connected_gene': 'ERCC1', 'score': 0.44}]
chr19 GH19I045472 45472201 45476847 1.12 [{'connected_gene': 'GC19P045474', 'score': 550.77}, {'connected_gene': 'CD3EAP', 'score': 12.02}, {'connected_gene': 'PPP1R13L', 'score': 12.02}, {'connected_gene': 'RTN2', 'score': 11.95}, {'connected_gene': 'VASP', 'score': 11.9}, {'connected_gene': 'ERCC2', 'score': 11.05}, {'connected_gene': 'EML2', 'score': 10.97}, {'connected_gene': 'MIR330', 'score': 10.85}, {'connected_gene': 'ERCC1', 'score': 9.93}, {'connected_gene': 'PPM1N', 'score': 5.81}, {'connected_gene': 'OPA3', 'score': 4.96}, {'connected_gene': 'GC19P045469', 'score': 0.77}, {'connected_gene': 'FOSB', 'score': 0.44}]
chr19 GH19I045473 45471383 45471552 0.4 [{'connected_gene': 'GC19P045469', 'score': 550.77}, {'connected_gene': 'CD3EAP', 'score': 20.23}, {'connected_gene': 'PPP1R13L', 'score': 12.02}, {'connected_gene': 'RTN2', 'score': 11.91}, {'connected_gene': 'VASP', 'score': 11.87}, {'connected_gene': 'ERCC1', 'score': 7.12}, {'connected_gene': 'FOSB', 'score': 0.77}, {'connected_gene': 'GC19P045474', 'score': 0.77}]

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