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
ENST00000304076 [[6772724, 6773022], [6820712, 6820829], [6821632, 6821691], [6821801, 6821870], [6822231, 6822340], [6822429, 6822525], [6825063, 6825132], [6825313, 6825417], [6826622, 6826722], [6828086, 6828182], [6828429, 6828498], [6828632, 6828719], [6828825, 6828911], [6829796, 6829929], [6832101, 6832211], [6833194, 6833296], [6833538, 6833636], [6833721, 6833744], [6833918, 6833964], [6836442, 6836579], [6843145, 6843177], [6848008, 6848125], [6850680, 6850768], [6852975, 6853090], [6853957, 6854109], [6857064, 6857377]] [[6772818, 6773022], [6820712, 6820829], [6821632, 6821691], [6821801, 6821870], [6822231, 6822340], [6822429, 6822525], [6825063, 6825132], [6825313, 6825417], [6826622, 6826722], [6828086, 6828182], [6828429, 6828498], [6828632, 6828719], [6828825, 6828911], [6829796, 6829929], [6832101, 6832211], [6833194, 6833296], [6833538, 6833636], [6833721, 6833744], [6833918, 6833964], [6836442, 6836579], [6843145, 6843177], [6848008, 6848125], [6850680, 6850768], [6852975, 6853090], [6853957, 6854109], [6857064, 6857118]]
ENST00000602142 [[6772736, 6773022], [6820712, 6820829], [6821632, 6821691], [6821801, 6821870], [6822231, 6822340], [6822429, 6822525], [6825063, 6825132], [6825313, 6825417], [6826622, 6826722], [6828086, 6828182], [6828429, 6828498], [6828632, 6828719], [6828825, 6828911], [6829796, 6829929], [6832101, 6832211], [6833194, 6833296], [6833538, 6833636], [6833721, 6833744], [6833918, 6833964], [6836442, 6836579], [6836995, 6837061], [6843145, 6843177], [6848008, 6848125], [6850680, 6850768], [6852975, 6853090], [6853957, 6854109], [6857064, 6857118]] [[6772818, 6773022], [6820712, 6820829], [6821632, 6821691], [6821801, 6821870], [6822231, 6822340], [6822429, 6822525], [6825063, 6825132], [6825313, 6825417], [6826622, 6826722], [6828086, 6828182], [6828429, 6828498], [6828632, 6828719], [6828825, 6828911], [6829796, 6829929], [6832101, 6832211], [6833194, 6833296], [6833538, 6833636], [6833721, 6833744], [6833918, 6833964], [6836442, 6836579], [6836995, 6837061], [6843145, 6843177], [6848008, 6848125], [6850680, 6850768], [6852975, 6853090], [6853957, 6854109], [6857064, 6857118]]
ENST00000596764 [[6772738, 6773022], [6820712, 6820829], [6821632, 6821691], [6821801, 6821870], [6822231, 6822340], [6825063, 6825132], [6825313, 6825417], [6826622, 6826722], [6828086, 6828182], [6828429, 6828498], [6828632, 6828719], [6828825, 6828911], [6829796, 6829929], [6832101, 6832211], [6833194, 6833296], [6833538, 6833636], [6833721, 6833744], [6833918, 6833964], [6836442, 6836579], [6836995, 6837061], [6843145, 6843177], [6848008, 6848125], [6850680, 6850768], [6852975, 6853090], [6853957, 6854109], [6857064, 6857371]] [[6772818, 6773022], [6820712, 6820829], [6821632, 6821691], [6821801, 6821870], [6822231, 6822340], [6825063, 6825132], [6825313, 6825417], [6826622, 6826722], [6828086, 6828182], [6828429, 6828498], [6828632, 6828719], [6828825, 6828911], [6829796, 6829929], [6832101, 6832211], [6833194, 6833296], [6833538, 6833636], [6833721, 6833744], [6833918, 6833964], [6836442, 6836579], [6836995, 6837061], [6843145, 6843177], [6848008, 6848125], [6850680, 6850768], [6852975, 6853090], [6853957, 6854109], [6857064, 6857118]]
ENST00000539284 [[6772968, 6773022], [6820712, 6820829], [6821632, 6821691], [6821801, 6821870], [6822231, 6822340], [6825063, 6825132], [6825313, 6825417], [6826622, 6826722], [6828086, 6828182], [6828429, 6828498], [6828632, 6828719], [6828825, 6828911], [6829796, 6829929], [6832101, 6832211], [6833194, 6833296], [6833538, 6833636], [6833721, 6833744], [6833918, 6833964], [6836442, 6836579], [6836995, 6837061], [6843145, 6843177], [6848008, 6848125], [6850680, 6850768], [6852975, 6853090], [6853957, 6854109], [6857064, 6857371]] [[6773013, 6773022], [6820712, 6820829], [6821632, 6821691], [6821801, 6821870], [6822231, 6822340], [6825063, 6825132], [6825313, 6825417], [6826622, 6826722], [6828086, 6828182], [6828429, 6828498], [6828632, 6828719], [6828825, 6828911], [6829796, 6829929], [6832101, 6832211], [6833194, 6833296], [6833538, 6833636], [6833721, 6833744], [6833918, 6833964], [6836442, 6836579], [6836995, 6837061], [6843145, 6843177], [6848008, 6848125], [6850680, 6850768], [6852975, 6853090], [6853957, 6854109], [6857064, 6857118]]
ENST00000599806 [[6784128, 6784252], [6820712, 6820829], [6821632, 6821691], [6821801, 6821870], [6822231, 6822340], [6822429, 6822525], [6825063, 6825132], [6825313, 6825417], [6826622, 6826722], [6828086, 6828182], [6828429, 6828498], [6828632, 6828719], [6828825, 6828911], [6829796, 6829929], [6832101, 6832211], [6833194, 6833296], [6833538, 6833636], [6833721, 6833744], [6833918, 6833964], [6836442, 6836579], [6836995, 6837061], [6843145, 6843177], [6848008, 6848125], [6850680, 6850768], [6852975, 6853090], [6853957, 6854109], [6857064, 6857377]] [[6784213, 6784252], [6820712, 6820829], [6821632, 6821691], [6821801, 6821870], [6822231, 6822340], [6822429, 6822525], [6825063, 6825132], [6825313, 6825417], [6826622, 6826722], [6828086, 6828182], [6828429, 6828498], [6828632, 6828719], [6828825, 6828911], [6829796, 6829929], [6832101, 6832211], [6833194, 6833296], [6833538, 6833636], [6833721, 6833744], [6833918, 6833964], [6836442, 6836579], [6836995, 6837061], [6843145, 6843177], [6848008, 6848125], [6850680, 6850768], [6852975, 6853090], [6853957, 6854109], [6857064, 6857118]]
ENST00000594082 [[6822447, 6822525], [6825063, 6825132], [6825313, 6825417], [6826622, 6827115]] None
ENST00000597967 [[6828325, 6828498], [6828632, 6828719], [6828825, 6828911], [6829796, 6829929], [6832101, 6832185]] None
ENST00000601452 [[6828456, 6828719], [6828825, 6828911], [6829796, 6829929], [6832101, 6832211], [6833194, 6833296], [6833538, 6833636], [6833721, 6833744]] None
ENST00000600396 [[6828472, 6828719], [6828825, 6828911], [6829883, 6829929], [6832101, 6832211], [6833194, 6833296], [6833538, 6833636]] None
ENST00000598270 [[6835819, 6836579], [6836995, 6837037]] None
NM_001258207 [[6772678, 6773022], [6820712, 6820829], [6821632, 6821691], [6821801, 6821870], [6822231, 6822340], [6825063, 6825132], [6825313, 6825417], [6826622, 6826722], [6828086, 6828182], [6828429, 6828498], [6828632, 6828719], [6828825, 6828911], [6829796, 6829929], [6832101, 6832211], [6833194, 6833296], [6833538, 6833636], [6833721, 6833744], [6833918, 6833964], [6836442, 6836579], [6836995, 6837061], [6843145, 6843177], [6848008, 6848125], [6850680, 6850768], [6852975, 6853090], [6853957, 6854109], [6857064, 6857377]] [[6772818, 6773022], [6820712, 6820829], [6821632, 6821691], [6821801, 6821870], [6822231, 6822340], [6825063, 6825132], [6825313, 6825417], [6826622, 6826722], [6828086, 6828182], [6828429, 6828498], [6828632, 6828719], [6828825, 6828911], [6829796, 6829929], [6832101, 6832211], [6833194, 6833296], [6833538, 6833636], [6833721, 6833744], [6833918, 6833964], [6836442, 6836579], [6836995, 6837061], [6843145, 6843177], [6848008, 6848125], [6850680, 6850768], [6852975, 6853090], [6853957, 6854109], [6857064, 6857118]]
NM_001258206 [[6772678, 6773022], [6820712, 6820829], [6821632, 6821691], [6821801, 6821870], [6822231, 6822340], [6822429, 6822525], [6825063, 6825132], [6825313, 6825417], [6826622, 6826722], [6828086, 6828182], [6828429, 6828498], [6828632, 6828719], [6828825, 6828911], [6829796, 6829929], [6832101, 6832211], [6833194, 6833296], [6833538, 6833636], [6833721, 6833744], [6833918, 6833964], [6836442, 6836579], [6843145, 6843177], [6848008, 6848125], [6850680, 6850768], [6852975, 6853090], [6853957, 6854109], [6857064, 6857377]] [[6772818, 6773022], [6820712, 6820829], [6821632, 6821691], [6821801, 6821870], [6822231, 6822340], [6822429, 6822525], [6825063, 6825132], [6825313, 6825417], [6826622, 6826722], [6828086, 6828182], [6828429, 6828498], [6828632, 6828719], [6828825, 6828911], [6829796, 6829929], [6832101, 6832211], [6833194, 6833296], [6833538, 6833636], [6833721, 6833744], [6833918, 6833964], [6836442, 6836579], [6843145, 6843177], [6848008, 6848125], [6850680, 6850768], [6852975, 6853090], [6853957, 6854109], [6857064, 6857118]]
NM_005428 [[6772678, 6773022], [6820712, 6820829], [6821632, 6821691], [6821801, 6821870], [6822231, 6822340], [6822429, 6822525], [6825063, 6825132], [6825313, 6825417], [6826622, 6826722], [6828086, 6828182], [6828429, 6828498], [6828632, 6828719], [6828825, 6828911], [6829796, 6829929], [6832101, 6832211], [6833194, 6833296], [6833538, 6833636], [6833721, 6833744], [6833918, 6833964], [6836442, 6836579], [6836995, 6837061], [6843145, 6843177], [6848008, 6848125], [6850680, 6850768], [6852975, 6853090], [6853957, 6854109], [6857064, 6857377]] [[6772818, 6773022], [6820712, 6820829], [6821632, 6821691], [6821801, 6821870], [6822231, 6822340], [6822429, 6822525], [6825063, 6825132], [6825313, 6825417], [6826622, 6826722], [6828086, 6828182], [6828429, 6828498], [6828632, 6828719], [6828825, 6828911], [6829796, 6829929], [6832101, 6832211], [6833194, 6833296], [6833538, 6833636], [6833721, 6833744], [6833918, 6833964], [6836442, 6836579], [6836995, 6837061], [6843145, 6843177], [6848008, 6848125], [6850680, 6850768], [6852975, 6853090], [6853957, 6854109], [6857064, 6857118]]
Promoter
Chrom Start End Description
chr19 6772686 6772697 CAGE_peak_2_at_VAV1_5end
chr19 6772710 6772744 CAGE_peak_1_at_VAV1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I006556 6556464 6556733 0.78 [{'connected_gene': 'TRIP10', 'score': 14.56}, {'connected_gene': 'ENSG00000269680', 'score': 11.43}, {'connected_gene': 'SAFB2', 'score': 10.32}, {'connected_gene': 'ADGRE1', 'score': 3.44}, {'connected_gene': 'TNFSF14', 'score': 2.39}, {'connected_gene': 'TNFSF9', 'score': 2.22}, {'connected_gene': 'RFX2', 'score': 1.78}, {'connected_gene': 'VAV1', 'score': 1.55}, {'connected_gene': 'LOC100421483', 'score': 0.77}, {'connected_gene': 'CLIC4P2', 'score': 0.44}]
chr19 GH19I006667 6667055 6670924 2.41 [{'connected_gene': 'TNFSF14', 'score': 557.17}, {'connected_gene': 'ACSBG2', 'score': 16.25}, {'connected_gene': 'ZNF557', 'score': 10.91}, {'connected_gene': 'GTF2F1', 'score': 10.85}, {'connected_gene': 'VAV1', 'score': 8.42}, {'connected_gene': 'DENND1C', 'score': 6.77}, {'connected_gene': 'ADGRE1', 'score': 2.87}, {'connected_gene': 'GPR108', 'score': 1.66}, {'connected_gene': 'GC19M006661', 'score': 0.44}]
chr19 GH19I006674 6674538 6675675 1.7 [{'connected_gene': 'TNFSF14', 'score': 51.55}, {'connected_gene': 'DENND1C', 'score': 14.97}, {'connected_gene': 'C3', 'score': 12.09}, {'connected_gene': 'GPR108', 'score': 12.07}, {'connected_gene': 'TRIP10', 'score': 12.07}, {'connected_gene': 'XAB2', 'score': 11.99}, {'connected_gene': 'ZNF557', 'score': 11.44}, {'connected_gene': 'DUS3L', 'score': 10.27}, {'connected_gene': 'KHSRP', 'score': 9.76}, {'connected_gene': 'STXBP2', 'score': 9.72}, {'connected_gene': 'ADGRE1', 'score': 4.81}, {'connected_gene': 'VAV1', 'score': 2.93}, {'connected_gene': 'TNFSF9', 'score': 1.78}, {'connected_gene': 'GC19P006699', 'score': 0.34}]
chr19 GH19I006811 6811990 6812139 0.93 [{'connected_gene': 'KHSRP', 'score': 12.35}, {'connected_gene': 'ZNF557', 'score': 12.09}, {'connected_gene': 'XAB2', 'score': 11.91}, {'connected_gene': 'ENSG00000267571', 'score': 10.96}, {'connected_gene': 'VAV1', 'score': 7.66}, {'connected_gene': 'GC19P006821', 'score': 0.44}]
chr19 GH19I006799 6799588 6804356 1.65 [{'connected_gene': 'KHSRP', 'score': 12.35}, {'connected_gene': 'ZNF557', 'score': 12.08}, {'connected_gene': 'XAB2', 'score': 11.91}, {'connected_gene': 'ENSG00000267571', 'score': 10.96}, {'connected_gene': 'ADGRE1', 'score': 8.68}, {'connected_gene': 'TNFSF14', 'score': 8.52}, {'connected_gene': 'VAV1', 'score': 6.97}, {'connected_gene': 'DENND1C', 'score': 3.41}, {'connected_gene': 'SH2D3A', 'score': 2.9}, {'connected_gene': 'GPR108', 'score': 2.21}, {'connected_gene': 'TNFSF9', 'score': 1.33}, {'connected_gene': 'GC19P006821', 'score': 0.37}]
chr19 GH19I006808 6808168 6810298 0.52 [{'connected_gene': 'KHSRP', 'score': 12.65}, {'connected_gene': 'GC19P006821', 'score': 0.39}, {'connected_gene': 'VAV1', 'score': 0.28}]
chr19 GH19I006771 6771869 6774143 2.3 [{'connected_gene': 'VAV1', 'score': 558.7}, {'connected_gene': 'SH2D3A', 'score': 36.97}, {'connected_gene': 'XAB2', 'score': 28.32}, {'connected_gene': 'DUS3L', 'score': 24.62}, {'connected_gene': 'KHSRP', 'score': 23.01}, {'connected_gene': 'ZNF557', 'score': 16.83}, {'connected_gene': 'ENSG00000267571', 'score': 16.65}, {'connected_gene': 'VMAC', 'score': 13.23}, {'connected_gene': 'GPR108', 'score': 10.56}, {'connected_gene': 'DENND1C', 'score': 8.89}, {'connected_gene': 'ADGRE1', 'score': 3.23}, {'connected_gene': 'GC19P006821', 'score': 0.25}]
chr19 GH19I006795 6795190 6795299 0.52 [{'connected_gene': 'VAV1', 'score': 0.34}, {'connected_gene': 'GC19P006821', 'score': 0.31}]
chr19 GH19I006783 6783548 6784485 0.38 [{'connected_gene': 'VAV1', 'score': 0.39}, {'connected_gene': 'GC19P006821', 'score': 0.28}]
chr19 GH19I006780 6780984 6781854 0.38 [{'connected_gene': 'VAV1', 'score': 0.44}, {'connected_gene': 'GC19P006821', 'score': 0.28}]
chr19 GH19I006270 6270025 6280679 2.77 [{'connected_gene': 'MLLT1', 'score': 558.49}, {'connected_gene': 'DUS3L', 'score': 72.52}, {'connected_gene': 'ZNF557', 'score': 62.77}, {'connected_gene': 'KHSRP', 'score': 62.0}, {'connected_gene': 'SNRPEP4', 'score': 46.16}, {'connected_gene': 'SAFB', 'score': 31.58}, {'connected_gene': 'ENSG00000267571', 'score': 25.37}, {'connected_gene': 'VMAC', 'score': 17.23}, {'connected_gene': 'GPR108', 'score': 15.25}, {'connected_gene': 'RANBP3', 'score': 11.97}, {'connected_gene': 'ACSBG2', 'score': 11.56}, {'connected_gene': 'PTPRS', 'score': 11.37}, {'connected_gene': 'SAFB2', 'score': 11.12}, {'connected_gene': 'ALKBH7', 'score': 10.14}, {'connected_gene': 'GTF2F1', 'score': 10.07}, {'connected_gene': 'VAV1', 'score': 6.52}, {'connected_gene': 'SLC25A23', 'score': 5.36}, {'connected_gene': 'PSPN', 'score': 4.99}, {'connected_gene': 'RFX2', 'score': 2.58}, {'connected_gene': 'DENND1C', 'score': 1.52}, {'connected_gene': 'NDUFA11', 'score': 1.26}, {'connected_gene': 'ENSG00000280394', 'score': 0.39}]
chr19 GH19I006890 6890078 6893111 1.21 [{'connected_gene': 'ADGRE1', 'score': 20.05}, {'connected_gene': 'ENSG00000269680', 'score': 5.06}, {'connected_gene': 'VAV1', 'score': 4.39}, {'connected_gene': 'GPR108', 'score': 2.31}, {'connected_gene': 'TNFSF14', 'score': 1.55}, {'connected_gene': 'DENND1C', 'score': 1.29}, {'connected_gene': 'ENSG00000280091', 'score': 0.44}, {'connected_gene': 'GC19P006870', 'score': 0.34}]
chr19 GH19I006774 6774810 6775495 0.74 [{'connected_gene': 'SH2D3A', 'score': 7.28}, {'connected_gene': 'VAV1', 'score': 0.77}, {'connected_gene': 'GC19P006821', 'score': 0.25}]
chr19 GH19I006777 6777964 6779097 0.38 [{'connected_gene': 'SH2D3A', 'score': 6.88}, {'connected_gene': 'VAV1', 'score': 0.44}, {'connected_gene': 'GC19P006821', 'score': 0.26}]
chr19 GH19I006789 6789503 6795089 0.63 [{'connected_gene': 'SH2D3A', 'score': 9.27}, {'connected_gene': 'VAV1', 'score': 0.37}, {'connected_gene': 'GC19P006821', 'score': 0.31}]
chr19 GH19I006796 6795849 6797895 0.59 [{'connected_gene': 'SH2D3A', 'score': 4.91}, {'connected_gene': 'PNPLA6', 'score': 4.68}, {'connected_gene': 'VAV1', 'score': 0.34}, {'connected_gene': 'GC19P006821', 'score': 0.34}]
chr19 GH19I006814 6814290 6814439 0.83 [{'connected_gene': 'GC19P006821', 'score': 0.44}, {'connected_gene': 'VAV1', 'score': 0.26}]
chr19 GH19I006831 6831098 6831377 0.2 [{'connected_gene': 'GC19P006821', 'score': 0.39}, {'connected_gene': 'GC19M006869', 'score': 0.28}, {'connected_gene': 'VAV1', 'score': 0.22}]
chr19 GH19I006798 6798612 6799489 0.31 [{'connected_gene': 'GC19P006821', 'score': 0.34}, {'connected_gene': 'VAV1', 'score': 0.31}]
chr19 GH19I006848 6847570 6847719 0.2 [{'connected_gene': 'GC19M006869', 'score': 0.34}, {'connected_gene': 'GC19P006821', 'score': 0.31}, {'connected_gene': 'VAV1', 'score': 0.19}]
chr19 GH19I006847 6847310 6847459 0.2 [{'connected_gene': 'GC19M006869', 'score': 0.34}, {'connected_gene': 'GC19P006821', 'score': 0.31}, {'connected_gene': 'VAV1', 'score': 0.19}]
chr19 GH19I006828 6828276 6829599 0.86 [{'connected_gene': 'GC19P006821', 'score': 0.44}, {'connected_gene': 'GC19M006869', 'score': 0.26}, {'connected_gene': 'VAV1', 'score': 0.22}]

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