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
ENST00000433642 [[45682002, 45682089], [45682545, 45685059]] [[45682554, 45683163]]
ENST00000587722 [[45682480, 45683212]] [[45682554, 45683163]]
ENST00000592910 [[45682926, 45683200], [45684529, 45684724]] [[45682926, 45683163]]
ENST00000588362 [[45683171, 45683200], [45683525, 45683671], [45684529, 45684827]] None
NM_212550 [[45682002, 45682089], [45682545, 45685059]] [[45682554, 45683163]]
Promoter
Chrom Start End Description
chr19 45681997 45682072 CAGE_peak_1_at_BLOC1S3_5end
chr19 45683516 45683521 CAGE_peak_2_at_BLOC1S3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I045211 45211782 45212892 0.38 [{'connected_gene': 'EXOC3L2', 'score': 13.3}, {'connected_gene': 'MARK4', 'score': 5.35}, {'connected_gene': 'GC19M045188', 'score': 0.34}, {'connected_gene': 'ENSG00000266958', 'score': 0.34}, {'connected_gene': 'LOC100420902', 'score': 0.34}, {'connected_gene': 'BLOC1S3', 'score': 0.29}, {'connected_gene': 'GC19M045193', 'score': 0.29}]
chr19 GH19I045078 45078441 45081178 2.26 [{'connected_gene': 'GEMIN7', 'score': 557.47}, {'connected_gene': 'MARK4', 'score': 550.77}, {'connected_gene': 'ZNF227', 'score': 26.16}, {'connected_gene': 'ZNF225', 'score': 22.03}, {'connected_gene': 'IRF2BP1', 'score': 21.24}, {'connected_gene': 'ZNF235', 'score': 12.58}, {'connected_gene': 'BLOC1S3', 'score': 12.23}, {'connected_gene': 'FBXO46', 'score': 12.15}, {'connected_gene': 'ZNF226', 'score': 12.1}, {'connected_gene': 'CLASRP', 'score': 11.89}, {'connected_gene': 'CCDC61', 'score': 11.37}, {'connected_gene': 'ZNF180', 'score': 10.76}, {'connected_gene': 'ENSG00000267114', 'score': 10.32}, {'connected_gene': 'PPP1R37', 'score': 10.09}, {'connected_gene': 'GEMIN7-AS1', 'score': 0.39}]
chr19 GH19I045184 45184601 45184800 0.2 [{'connected_gene': 'GEMIN7', 'score': 8.04}, {'connected_gene': 'ENSG00000266958', 'score': 0.77}, {'connected_gene': 'ENSG00000267545', 'score': 0.77}, {'connected_gene': 'BLOC1S3', 'score': 0.44}, {'connected_gene': 'MARK4', 'score': 0.14}]
chr19 GH19I044211 44211801 44213801 2.08 [{'connected_gene': 'ZNF227', 'score': 593.0}, {'connected_gene': 'ZNF180', 'score': 97.53}, {'connected_gene': 'ZNF45', 'score': 93.18}, {'connected_gene': 'ZNF112', 'score': 71.7}, {'connected_gene': 'ZNF225', 'score': 53.69}, {'connected_gene': 'ENSG00000267191', 'score': 50.91}, {'connected_gene': 'ZNF283', 'score': 50.72}, {'connected_gene': 'ZNF235', 'score': 49.46}, {'connected_gene': 'ZNF224', 'score': 46.53}, {'connected_gene': 'ZNF155', 'score': 46.13}, {'connected_gene': 'LOC101928063', 'score': 45.25}, {'connected_gene': 'ZNF576', 'score': 43.57}, {'connected_gene': 'MRPS15P2', 'score': 42.14}, {'connected_gene': 'ZNF284', 'score': 40.04}, {'connected_gene': 'ZNF223', 'score': 39.21}, {'connected_gene': 'ZNF234', 'score': 35.54}, {'connected_gene': 'LOC100505715', 'score': 32.75}, {'connected_gene': 'ZNF285', 'score': 29.55}, {'connected_gene': 'XRCC1', 'score': 29.05}, {'connected_gene': 'ENSG00000267114', 'score': 28.55}, {'connected_gene': 'ZNF233', 'score': 24.19}, {'connected_gene': 'CLASRP', 'score': 23.3}, {'connected_gene': 'CEACAM19', 'score': 22.68}, {'connected_gene': 'ZNF226', 'score': 21.8}, {'connected_gene': 'LOC100379224', 'score': 18.84}, {'connected_gene': 'ZNF428', 'score': 13.7}, {'connected_gene': 'BLOC1S3', 'score': 12.05}, {'connected_gene': 'SMG9', 'score': 11.77}, {'connected_gene': 'ZNF222', 'score': 10.62}, {'connected_gene': 'IRGQ', 'score': 10.32}, {'connected_gene': 'ZNF230', 'score': 10.11}, {'connected_gene': 'ZNF285B', 'score': 10.03}, {'connected_gene': 'PIR42464', 'score': 0.34}]
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 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 GH19I045613 45613546 45617061 1.4 [{'connected_gene': 'CCDC61', 'score': 25.27}, {'connected_gene': 'FBXO46', 'score': 23.88}, {'connected_gene': 'CLASRP', 'score': 22.83}, {'connected_gene': 'ENSG00000269148', 'score': 14.13}, {'connected_gene': 'BLOC1S3', 'score': 12.12}, {'connected_gene': 'ENSG00000269124', 'score': 10.81}, {'connected_gene': 'EML2', 'score': 8.6}, {'connected_gene': 'PIR54112', 'score': 0.44}, {'connected_gene': 'GC19M045633', 'score': 0.37}]
chr19 GH19I044740 44740340 44759694 2.84 [{'connected_gene': 'BCL3', 'score': 577.97}, {'connected_gene': 'ZNF45', 'score': 75.12}, {'connected_gene': 'ZNF224', 'score': 69.6}, {'connected_gene': 'ZNF155', 'score': 65.17}, {'connected_gene': 'ZNF180', 'score': 63.19}, {'connected_gene': 'ZNF284', 'score': 57.57}, {'connected_gene': 'ZNF225', 'score': 50.99}, {'connected_gene': 'ZNF234', 'score': 48.43}, {'connected_gene': 'CLASRP', 'score': 47.89}, {'connected_gene': 'ZNF235', 'score': 43.64}, {'connected_gene': 'ZNF283', 'score': 38.74}, {'connected_gene': 'ZNF227', 'score': 37.51}, {'connected_gene': 'ZNF221', 'score': 34.5}, {'connected_gene': 'ZNF230', 'score': 32.11}, {'connected_gene': 'ZNF226', 'score': 30.44}, {'connected_gene': 'ZNF223', 'score': 29.89}, {'connected_gene': 'RELB', 'score': 29.78}, {'connected_gene': 'FBXO46', 'score': 24.67}, {'connected_gene': 'ZNF112', 'score': 24.27}, {'connected_gene': 'ENSG00000267114', 'score': 19.2}, {'connected_gene': 'MRPS15P2', 'score': 17.65}, {'connected_gene': 'LOC100505715', 'score': 12.53}, {'connected_gene': 'ZNF285', 'score': 10.89}, {'connected_gene': 'ZNF404', 'score': 10.6}, {'connected_gene': 'ZNF222', 'score': 10.54}, {'connected_gene': 'ENSG00000267191', 'score': 9.82}, {'connected_gene': 'ENSG00000266903', 'score': 7.69}, {'connected_gene': 'CBLC', 'score': 5.4}, {'connected_gene': 'NECTIN2', 'score': 4.91}, {'connected_gene': 'BLOC1S3', 'score': 1.74}, {'connected_gene': 'ZNF296', 'score': 1.09}, {'connected_gene': 'GC19M044758', 'score': 0.44}, {'connected_gene': 'MIR8085', 'score': 0.44}, {'connected_gene': 'GC19M044733', 'score': 0.18}]
chr19 GH19I044767 44767524 44768400 1.32 [{'connected_gene': 'RELB', 'score': 16.32}, {'connected_gene': 'BCL3', 'score': 13.32}, {'connected_gene': 'CLASRP', 'score': 6.74}, {'connected_gene': 'BLOC1S3', 'score': 1.13}, {'connected_gene': 'ENSG00000236807', 'score': 0.77}, {'connected_gene': 'CBLC', 'score': 0.44}, {'connected_gene': 'GC19M044733', 'score': 0.21}]
chr19 GH19I044736 44736270 44739619 1.63 [{'connected_gene': 'RELB', 'score': 14.64}, {'connected_gene': 'CEACAM16', 'score': 12.48}, {'connected_gene': 'ENSG00000266903', 'score': 12.26}, {'connected_gene': 'BCL3', 'score': 7.63}, {'connected_gene': 'CLASRP', 'score': 5.46}, {'connected_gene': 'BLOC1S3', 'score': 1.45}, {'connected_gene': 'ENSG00000252200', 'score': 0.39}, {'connected_gene': 'GC19M044726', 'score': 0.39}, {'connected_gene': 'GC19M044733', 'score': 0.16}]
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 GH19I045177 45177130 45180828 2.07 [{'connected_gene': 'BLOC1S3', 'score': 550.77}, {'connected_gene': 'TRAPPC6A', 'score': 550.77}, {'connected_gene': 'ENSG00000267545', 'score': 550.77}, {'connected_gene': 'ZNF180', 'score': 18.97}, {'connected_gene': 'CCDC61', 'score': 13.37}, {'connected_gene': 'SYMPK', 'score': 10.33}, {'connected_gene': 'RELB', 'score': 10.21}, {'connected_gene': 'PPP1R37', 'score': 9.12}, {'connected_gene': 'MARK4', 'score': 0.15}]
chr19 GH19I044734 44734724 44735280 0.84 [{'connected_gene': 'CEACAM16', 'score': 12.5}, {'connected_gene': 'FBXO46', 'score': 12.14}, {'connected_gene': 'BLOC1S3', 'score': 12.12}, {'connected_gene': 'CLASRP', 'score': 11.69}, {'connected_gene': 'ZNF180', 'score': 10.81}, {'connected_gene': 'ZNF230', 'score': 10.05}, {'connected_gene': 'ENSG00000252200', 'score': 0.44}, {'connected_gene': 'GC19M044726', 'score': 0.44}, {'connected_gene': 'BCL3', 'score': 0.39}, {'connected_gene': 'GC19M044733', 'score': 0.15}]
chr19 GH19I044259 44259308 44260756 2.04 [{'connected_gene': 'ZNF233', 'score': 584.07}, {'connected_gene': 'ZNF45', 'score': 179.13}, {'connected_gene': 'ZNF180', 'score': 177.11}, {'connected_gene': 'ZNF225', 'score': 140.22}, {'connected_gene': 'ZNF224', 'score': 136.66}, {'connected_gene': 'ZNF284', 'score': 112.72}, {'connected_gene': 'ZNF227', 'score': 98.5}, {'connected_gene': 'ZNF234', 'score': 94.29}, {'connected_gene': 'ZNF235', 'score': 94.11}, {'connected_gene': 'CLASRP', 'score': 93.16}, {'connected_gene': 'ZNF576', 'score': 87.21}, {'connected_gene': 'LOC100505715', 'score': 79.29}, {'connected_gene': 'ZNF283', 'score': 77.87}, {'connected_gene': 'XRCC1', 'score': 77.21}, {'connected_gene': 'ZNF221', 'score': 64.19}, {'connected_gene': 'ZNF285', 'score': 61.94}, {'connected_gene': 'ZNF230', 'score': 60.7}, {'connected_gene': 'ZNF112', 'score': 60.49}, {'connected_gene': 'ZNF226', 'score': 58.54}, {'connected_gene': 'ZNF223', 'score': 57.02}, {'connected_gene': 'ENSG00000267191', 'score': 55.28}, {'connected_gene': 'ENSG00000267114', 'score': 47.32}, {'connected_gene': 'IRGQ', 'score': 39.85}, {'connected_gene': 'PINLYP', 'score': 37.69}, {'connected_gene': 'MRPS15P2', 'score': 36.96}, {'connected_gene': 'ZNF428', 'score': 33.21}, {'connected_gene': 'LOC101928063', 'score': 31.7}, {'connected_gene': 'LOC100379224', 'score': 28.58}, {'connected_gene': 'ZNF222', 'score': 18.7}, {'connected_gene': 'BLOC1S3', 'score': 12.05}, {'connected_gene': 'SMG9', 'score': 11.76}, {'connected_gene': 'ZNF285B', 'score': 10.05}, {'connected_gene': 'GC19P044273', 'score': 0.44}]
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 GH19I045422 45422798 45426124 2.31 [{'connected_gene': 'ERCC1', 'score': 565.62}, {'connected_gene': 'ZNF180', 'score': 50.33}, {'connected_gene': 'CCDC61', 'score': 42.48}, {'connected_gene': 'FBXO46', 'score': 25.84}, {'connected_gene': 'CLASRP', 'score': 25.68}, {'connected_gene': 'SYMPK', 'score': 20.61}, {'connected_gene': 'ENSG00000268810', 'score': 15.44}, {'connected_gene': 'ENSG00000269148', 'score': 13.39}, {'connected_gene': 'BLOC1S3', 'score': 12.15}, {'connected_gene': 'ENSG00000267114', 'score': 9.93}, {'connected_gene': 'CD3EAP', 'score': 9.37}, {'connected_gene': 'PIR48099', 'score': 0.44}, {'connected_gene': 'MIR6088', 'score': 0.39}]
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 GH19I045446 45446081 45452954 2.29 [{'connected_gene': 'CD3EAP', 'score': 13.41}, {'connected_gene': 'ENSG00000268810', 'score': 10.94}, {'connected_gene': 'ERCC1', 'score': 10.66}, {'connected_gene': 'GIPR', 'score': 6.62}, {'connected_gene': 'RTN2', 'score': 5.49}, {'connected_gene': 'RELB', 'score': 5.08}, {'connected_gene': 'FOSB', 'score': 4.11}, {'connected_gene': 'CLASRP', 'score': 2.63}, {'connected_gene': 'PPM1N', 'score': 2.61}, {'connected_gene': 'TRAPPC6A', 'score': 1.57}, {'connected_gene': 'BLOC1S3', 'score': 1.32}, {'connected_gene': 'MIR6088', 'score': 0.39}]
chr19 GH19I045215 45215557 45216200 0.63 [{'connected_gene': 'LOC100420902', 'score': 0.37}, {'connected_gene': 'EXOC3L2', 'score': 0.31}, {'connected_gene': 'GC19M045188', 'score': 0.31}, {'connected_gene': 'GC19M045193', 'score': 0.31}, {'connected_gene': 'ENSG00000266958', 'score': 0.31}, {'connected_gene': 'BLOC1S3', 'score': 0.28}, {'connected_gene': 'MARK4', 'score': 0.12}]
chr19 GH19I044683 44683710 44687200 1.31 [{'connected_gene': 'GC19P044686', 'score': 550.77}, {'connected_gene': 'CEACAM19', 'score': 18.01}, {'connected_gene': 'PVR', 'score': 14.27}, {'connected_gene': 'ZNF180', 'score': 14.25}, {'connected_gene': 'ENSG00000252200', 'score': 11.92}, {'connected_gene': 'ZNF45', 'score': 11.41}, {'connected_gene': 'RELB', 'score': 8.85}, {'connected_gene': 'ENSG00000266903', 'score': 7.75}, {'connected_gene': 'BCL3', 'score': 5.98}, {'connected_gene': 'CLASRP', 'score': 3.61}, {'connected_gene': 'BLOC1S3', 'score': 1.86}, {'connected_gene': 'ENSG00000279095', 'score': 0.34}]
chr19 GH19I045191 45191423 45191572 0.31 [{'connected_gene': 'GC19M045188', 'score': 0.77}, {'connected_gene': 'ENSG00000266958', 'score': 0.77}, {'connected_gene': 'BLOC1S3', 'score': 0.39}, {'connected_gene': 'ENSG00000267545', 'score': 0.39}, {'connected_gene': 'LOC100420902', 'score': 0.26}, {'connected_gene': 'MARK4', 'score': 0.14}]
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 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 GH19I045187 45187400 45187601 0.57 [{'connected_gene': 'GC19M045188', 'score': 550.77}, {'connected_gene': 'ENSG00000266958', 'score': 550.77}, {'connected_gene': 'CD3EAP', 'score': 4.46}, {'connected_gene': 'BLOC1S3', 'score': 0.44}, {'connected_gene': 'ENSG00000267545', 'score': 0.44}, {'connected_gene': 'MARK4', 'score': 0.14}]
chr19 GH19I045208 45208801 45209000 0.54 [{'connected_gene': 'GC19M045188', 'score': 0.34}, {'connected_gene': 'ENSG00000266958', 'score': 0.34}, {'connected_gene': 'LOC100420902', 'score': 0.31}, {'connected_gene': 'BLOC1S3', 'score': 0.29}, {'connected_gene': 'GC19M045193', 'score': 0.28}, {'connected_gene': 'MARK4', 'score': 0.13}]

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