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
ENST00000360957 [[45882891, 45883486], [45885784, 45885984], [45888819, 45888986], [45889081, 45889215], [45889306, 45889438], [45895137, 45895598], [45898693, 45899144], [45899425, 45899517], [45899595, 45899694], [45899802, 45900316], [45901262, 45901405], [45901521, 45901597], [45908256, 45908296]] [[45883447, 45883486], [45885784, 45885984], [45888819, 45888986], [45889081, 45889215], [45889306, 45889438], [45895137, 45895598], [45898693, 45899144], [45899425, 45899517], [45899595, 45899694], [45899802, 45900316], [45901262, 45901405], [45901521, 45901576]]
ENST00000589371 [[45882895, 45883184], [45885784, 45885850]] [[45882977, 45883184], [45885784, 45885850]]
ENST00000591986 [[45882895, 45883486], [45888819, 45888876]] [[45883454, 45883486], [45888819, 45888876]]
ENST00000587270 [[45882895, 45883486], [45885784, 45885984], [45888819, 45888986], [45889081, 45889215], [45889306, 45889438], [45895137, 45896425]] None
ENST00000418234 [[45882895, 45883486], [45885784, 45885984], [45888819, 45888986], [45889081, 45889215], [45889306, 45889438], [45895137, 45895598], [45898693, 45899144], [45899425, 45899517], [45899595, 45899694], [45899802, 45900316], [45901262, 45901405], [45901521, 45901597], [45909549, 45909607]] [[45883447, 45883486], [45885784, 45885984], [45888819, 45888986], [45889081, 45889215], [45889306, 45889438], [45895137, 45895598], [45898693, 45899144], [45899425, 45899517], [45899595, 45899694], [45899802, 45900316], [45901262, 45901405], [45901521, 45901576]]
ENST00000589858 [[45885821, 45885984], [45888819, 45888986], [45889081, 45889361]] None
ENST00000585905 [[45897910, 45899144], [45899425, 45899517], [45899595, 45899694], [45899802, 45900316], [45901262, 45901405], [45901521, 45901597], [45909549, 45909567]] None
ENST00000593226 [[45900129, 45900316], [45901262, 45901405], [45901521, 45901597], [45908256, 45908339], [45909549, 45909585]] [[45900129, 45900316], [45901262, 45901405], [45901521, 45901576]]
ENST00000592134 [[45901280, 45901405], [45901521, 45901597], [45905256, 45905382], [45908256, 45908321]] [[45901280, 45901405], [45901521, 45901576]]
NM_006663 [[45882891, 45883486], [45885784, 45885984], [45888819, 45888986], [45889081, 45889215], [45889306, 45889438], [45895137, 45895598], [45898693, 45899144], [45899425, 45899517], [45899595, 45899694], [45899802, 45900316], [45901262, 45901405], [45901521, 45901597], [45908256, 45908312]] [[45883447, 45883486], [45885784, 45885984], [45888819, 45888986], [45889081, 45889215], [45889306, 45889438], [45895137, 45895598], [45898693, 45899144], [45899425, 45899517], [45899595, 45899694], [45899802, 45900316], [45901262, 45901405], [45901521, 45901576]]
NM_001142502 [[45882891, 45883486], [45885784, 45885984], [45888819, 45888986], [45889081, 45889215], [45889306, 45889438], [45895137, 45895598], [45898693, 45899144], [45899425, 45899517], [45899595, 45899694], [45899802, 45900316], [45901262, 45901405], [45901521, 45901597], [45909549, 45909607]] [[45883447, 45883486], [45885784, 45885984], [45888819, 45888986], [45889081, 45889215], [45889306, 45889438], [45895137, 45895598], [45898693, 45899144], [45899425, 45899517], [45899595, 45899694], [45899802, 45900316], [45901262, 45901405], [45901521, 45901576]]
Promoter
Chrom Start End Description
chr19 45908278 45908282 CAGE_peak_5_at_PPP1R13L_5end
chr19 45908286 45908291 CAGE_peak_3_at_PPP1R13L_5end
chr19 45908292 45908374 CAGE_peak_1_at_PPP1R13L_5end
chr19 45909594 45909625 CAGE_peak_2_at_PPP1R13L_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I045341 45341392 45341578 0.84 [{'connected_gene': 'ZNF180', 'score': 60.8}, {'connected_gene': 'CCDC61', 'score': 28.54}, {'connected_gene': 'CLASRP', 'score': 27.35}, {'connected_gene': 'ENSG00000269148', 'score': 25.8}, {'connected_gene': 'FBXO46', 'score': 22.86}, {'connected_gene': 'ZNF112', 'score': 21.87}, {'connected_gene': 'ERCC2', 'score': 10.87}, {'connected_gene': 'ERCC1', 'score': 9.97}, {'connected_gene': 'ENSG00000267114', 'score': 9.94}, {'connected_gene': 'KLC3', 'score': 6.31}, {'connected_gene': 'PPP1R13L', 'score': 1.28}, {'connected_gene': 'GC19P045339', 'score': 0.77}, {'connected_gene': 'GC19M045351', 'score': 0.39}]
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 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 GH19I045310 45310033 45310975 0.43 [{'connected_gene': 'MARK4', 'score': 30.65}, {'connected_gene': 'KLC3', 'score': 12.75}, {'connected_gene': 'RPS16P9', 'score': 12.75}, {'connected_gene': 'EXOC3L2', 'score': 11.49}, {'connected_gene': 'CD3EAP', 'score': 10.49}, {'connected_gene': 'PPP1R13L', 'score': 10.49}, {'connected_gene': 'GC19M045307', 'score': 0.77}, {'connected_gene': 'CKM', 'score': 0.39}]
chr19 GH19I045667 45667358 45669779 2.07 [{'connected_gene': 'GIPR', 'score': 555.51}, {'connected_gene': 'SNRPD2', 'score': 34.91}, {'connected_gene': 'CCDC61', 'score': 29.35}, {'connected_gene': 'DM1-AS', 'score': 24.01}, {'connected_gene': 'ENSG00000259605', 'score': 24.0}, {'connected_gene': 'ENSG00000268810', 'score': 23.94}, {'connected_gene': 'CLASRP', 'score': 15.84}, {'connected_gene': 'FBXO46', 'score': 15.68}, {'connected_gene': 'PPP1R13L', 'score': 14.33}, {'connected_gene': 'ENSG00000269148', 'score': 13.43}, {'connected_gene': 'IRF2BP1', 'score': 12.98}, {'connected_gene': 'SYMPK', 'score': 12.07}, {'connected_gene': 'SIX5', 'score': 11.74}, {'connected_gene': 'BCAM', 'score': 10.96}, {'connected_gene': 'ENSG00000267114', 'score': 10.22}, {'connected_gene': 'RELB', 'score': 10.14}, {'connected_gene': 'ERCC1', 'score': 9.94}, {'connected_gene': 'GC19P045675', 'score': 0.44}, {'connected_gene': 'GC19P045665', 'score': 0.44}]
chr19 GH19I045313 45313082 45314419 0.66 [{'connected_gene': 'FBXO46', 'score': 13.65}, {'connected_gene': 'ZNF180', 'score': 13.24}, {'connected_gene': 'CCDC61', 'score': 12.15}, {'connected_gene': 'EXOC3L2', 'score': 11.49}, {'connected_gene': 'CD3EAP', 'score': 10.5}, {'connected_gene': 'PPP1R13L', 'score': 10.5}, {'connected_gene': 'SIX5', 'score': 9.77}, {'connected_gene': 'DMWD', 'score': 5.86}, {'connected_gene': 'CKM', 'score': 0.44}, {'connected_gene': 'GC19M045307', 'score': 0.44}]
chr19 GH19I045385 45385523 45385672 0.43 [{'connected_gene': 'ERCC2', 'score': 0.39}, {'connected_gene': 'CD3EAP', 'score': 0.34}, {'connected_gene': 'PPP1R13L', 'score': 0.34}]
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 GH19I045311 45311783 45312001 0.99 [{'connected_gene': 'KLC3', 'score': 12.75}, {'connected_gene': 'RPS16P9', 'score': 12.75}, {'connected_gene': 'EXOC3L2', 'score': 11.49}, {'connected_gene': 'MARK4', 'score': 10.74}, {'connected_gene': 'CD3EAP', 'score': 10.5}, {'connected_gene': 'PPP1R13L', 'score': 10.5}, {'connected_gene': 'GC19M045307', 'score': 0.77}, {'connected_gene': 'CKM', 'score': 0.39}]
chr19 GH19I045231 45231493 45232674 0.2 [{'connected_gene': 'CKM', 'score': 11.12}, {'connected_gene': 'ERCC2', 'score': 10.69}, {'connected_gene': 'CD3EAP', 'score': 10.31}, {'connected_gene': 'PPP1R13L', 'score': 10.31}, {'connected_gene': 'RELB', 'score': 10.23}, {'connected_gene': 'CLASRP', 'score': 10.07}, {'connected_gene': 'LOC100420902', 'score': 0.77}, {'connected_gene': 'GC19M045193', 'score': 0.39}, {'connected_gene': 'EXOC3L2', 'score': 0.39}, {'connected_gene': 'GC19M045188', 'score': 0.26}, {'connected_gene': 'MARK4', 'score': 0.1}]
chr19 GH19I045763 45763752 45773931 2.52 [{'connected_gene': 'DM1-AS', 'score': 558.07}, {'connected_gene': 'SIX5', 'score': 550.77}, {'connected_gene': 'CCDC61', 'score': 45.41}, {'connected_gene': 'SYMPK', 'score': 37.8}, {'connected_gene': 'FBXO46', 'score': 33.33}, {'connected_gene': 'ENSG00000268810', 'score': 32.89}, {'connected_gene': 'CLASRP', 'score': 30.2}, {'connected_gene': 'ENSG00000267114', 'score': 29.25}, {'connected_gene': 'ENSG00000269148', 'score': 23.4}, {'connected_gene': 'DMWD', 'score': 16.86}, {'connected_gene': 'PPP1R13L', 'score': 14.32}, {'connected_gene': 'DMPK', 'score': 13.17}, {'connected_gene': 'IRF2BP1', 'score': 11.66}, {'connected_gene': 'BHMG1', 'score': 11.22}, {'connected_gene': 'FOXA3', 'score': 11.06}, {'connected_gene': 'BCAM', 'score': 10.96}, {'connected_gene': 'QPCTL', 'score': 10.57}, {'connected_gene': 'SNRPD2', 'score': 10.35}, {'connected_gene': 'PRKD2', 'score': 10.03}, {'connected_gene': 'FKRP', 'score': 5.55}, {'connected_gene': 'GC19M045770', 'score': 0.77}, {'connected_gene': 'ENSG00000259605', 'score': 0.77}]
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 GH19I045400 45400363 45400512 0.58 [{'connected_gene': 'CD3EAP', 'score': 14.89}, {'connected_gene': 'PPP1R13L', 'score': 0.44}, {'connected_gene': 'ERCC2', 'score': 0.31}]
chr19 GH19I045395 45395803 45395972 0.59 [{'connected_gene': 'CD3EAP', 'score': 0.39}, {'connected_gene': 'PPP1R13L', 'score': 0.39}, {'connected_gene': 'ERCC2', 'score': 0.34}]
chr19 GH19I045397 45397783 45399200 0.97 [{'connected_gene': 'CD3EAP', 'score': 0.44}, {'connected_gene': 'PPP1R13L', 'score': 0.44}, {'connected_gene': 'ERCC2', 'score': 0.31}]
chr19 GH19I045391 45391443 45391612 0.67 [{'connected_gene': 'CD3EAP', 'score': 0.39}, {'connected_gene': 'PPP1R13L', 'score': 0.39}, {'connected_gene': 'ERCC2', 'score': 0.34}]
chr19 GH19I045307 45307843 45308312 0.92 [{'connected_gene': 'GC19M045307', 'score': 550.77}, {'connected_gene': 'MARK4', 'score': 16.5}, {'connected_gene': 'EXOC3L2', 'score': 10.98}, {'connected_gene': 'CD3EAP', 'score': 10.82}, {'connected_gene': 'PPP1R13L', 'score': 10.82}, {'connected_gene': 'CLASRP', 'score': 9.99}, {'connected_gene': 'RELB', 'score': 9.99}, {'connected_gene': 'CKM', 'score': 0.39}]
chr19 GH19I045306 45306026 45307727 0.83 [{'connected_gene': 'GC19M045307', 'score': 550.77}, {'connected_gene': 'MARK4', 'score': 51.57}, {'connected_gene': 'ZNF180', 'score': 14.19}, {'connected_gene': 'CEACAM19', 'score': 12.22}, {'connected_gene': 'EXOC3L2', 'score': 10.98}, {'connected_gene': 'CD3EAP', 'score': 10.82}, {'connected_gene': 'PPP1R13L', 'score': 10.82}, {'connected_gene': 'SNRPD2', 'score': 10.82}, {'connected_gene': 'CLASRP', 'score': 9.99}, {'connected_gene': 'RELB', 'score': 9.99}, {'connected_gene': 'CCDC61', 'score': 9.66}, {'connected_gene': 'CKM', 'score': 0.37}]
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 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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