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
ENST00000486712 [[50648950, 50649168], [50649424, 50649560], [50650278, 50650373], [50651222, 50651331]] None
ENST00000446044 [[50649338, 50649560], [50650278, 50650373], [50651222, 50651449], [50654944, 50655215], [50677796, 50677936], [50679137, 50679202], [50679683, 50679763], [50681839, 50681963], [50683140, 50683216], [50683570, 50683695], [50684170, 50684256], [50684553, 50684634], [50685324, 50686720]] [[50654996, 50655215], [50677796, 50677936], [50679137, 50679202], [50679683, 50679763], [50681839, 50681963], [50683140, 50683216], [50683570, 50683695], [50684170, 50684256], [50684553, 50684634], [50685324, 50685477]]
ENST00000497283 [[50649758, 50650130], [50650278, 50650373], [50651222, 50651548]] None
ENST00000430409 [[50654561, 50654672], [50654944, 50655215], [50677796, 50677936], [50679137, 50679202], [50679683, 50679763], [50681839, 50681963], [50683140, 50683216], [50683570, 50683695], [50684170, 50684256], [50684553, 50684635]] [[50654996, 50655215], [50677796, 50677936], [50679137, 50679202], [50679683, 50679763], [50681839, 50681963], [50683140, 50683216], [50683570, 50683695], [50684170, 50684256], [50684553, 50684635]]
ENST00000357955 [[50654600, 50654657], [50654944, 50655215], [50677796, 50677936], [50679137, 50679202], [50679683, 50679763], [50681839, 50681963], [50683140, 50683216], [50683570, 50683695], [50684170, 50684256], [50684553, 50684634], [50685324, 50686719]] [[50654996, 50655215], [50677796, 50677936], [50679137, 50679202], [50679683, 50679763], [50681839, 50681963], [50683140, 50683216], [50683570, 50683695], [50684170, 50684256], [50684553, 50684634], [50685324, 50685477]]
ENST00000457064 [[50654820, 50655215], [50677796, 50677936]] [[50654996, 50655215], [50677796, 50677936]]
ENST00000451680 [[50683642, 50683695], [50684170, 50684256], [50685324, 50686058]] [[50683642, 50683695], [50684170, 50684256], [50685324, 50685477]]
NM_001243926 [[50649292, 50649560], [50650278, 50650373], [50651222, 50651449], [50654944, 50655215], [50677796, 50677936], [50679137, 50679202], [50679683, 50679763], [50681839, 50681963], [50683140, 50683216], [50683570, 50683695], [50684170, 50684256], [50684553, 50684634], [50685324, 50686728]] [[50654996, 50655215], [50677796, 50677936], [50679137, 50679202], [50679683, 50679763], [50681839, 50681963], [50683140, 50683216], [50683570, 50683695], [50684170, 50684256], [50684553, 50684634], [50685324, 50685477]]
NM_004635 [[50654561, 50654657], [50654944, 50655215], [50677796, 50677936], [50679137, 50679202], [50679683, 50679763], [50681839, 50681963], [50683140, 50683216], [50683570, 50683695], [50684170, 50684256], [50684553, 50684634], [50685324, 50686728]] [[50654996, 50655215], [50677796, 50677936], [50679137, 50679202], [50679683, 50679763], [50681839, 50681963], [50683140, 50683216], [50683570, 50683695], [50684170, 50684256], [50684553, 50684634], [50685324, 50685477]]
NM_001243925 [[50654561, 50654672], [50654944, 50655215], [50677796, 50677936], [50679137, 50679202], [50679683, 50679763], [50681839, 50681963], [50683140, 50683216], [50683570, 50683695], [50684170, 50684256], [50684553, 50684634], [50685324, 50686728]] [[50654996, 50655215], [50677796, 50677936], [50679137, 50679202], [50679683, 50679763], [50681839, 50681963], [50683140, 50683216], [50683570, 50683695], [50684170, 50684256], [50684553, 50684634], [50685324, 50685477]]
Promoter
Chrom Start End Description
chr3 50648941 50648958 CAGE_peak_7_at_MAPKAPK3_5end
chr3 50649302 50649333 CAGE_peak_5_at_MAPKAPK3_5end
chr3 50649746 50649765 CAGE_peak_6_at_MAPKAPK3_5end
chr3 50654550 50654617 CAGE_peak_1_at_MAPKAPK3_5end
chr3 50654619 50654632 CAGE_peak_2_at_MAPKAPK3_5end
chr3 50654914 50654956 CAGE_peak_3_at_MAPKAPK3_5end
chr3 50655081 50655137 CAGE_peak_4_at_MAPKAPK3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I050616 50616000 50633999 2.7 [{'connected_gene': 'MAPKAPK3', 'score': 566.78}, {'connected_gene': 'DOCK3', 'score': 23.56}, {'connected_gene': 'HEMK1', 'score': 21.59}, {'connected_gene': 'C3orf18', 'score': 12.32}, {'connected_gene': 'MANF', 'score': 10.68}, {'connected_gene': 'GNAI2', 'score': 6.5}, {'connected_gene': 'LSMEM2', 'score': 5.74}, {'connected_gene': 'HYAL1', 'score': 3.89}, {'connected_gene': 'RASSF1', 'score': 3.77}, {'connected_gene': 'CYB561D2', 'score': 1.38}, {'connected_gene': 'CISH', 'score': 0.39}, {'connected_gene': 'LINC02019', 'score': 0.26}]
chr3 GH03I050577 50577114 50577965 0.77 [{'connected_gene': 'MAPKAPK3', 'score': 12.55}, {'connected_gene': 'CISH', 'score': 12.55}, {'connected_gene': 'HEMK1', 'score': 10.56}, {'connected_gene': 'C3orf18', 'score': 0.77}, {'connected_gene': 'PIR34243', 'score': 0.44}]
chr3 GH03I050652 50652601 50653200 0.83 [{'connected_gene': 'MAPKAPK3', 'score': 11.52}, {'connected_gene': 'CISH', 'score': 11.52}, {'connected_gene': 'C3orf18', 'score': 11.35}, {'connected_gene': 'HEMK1', 'score': 11.35}, {'connected_gene': 'LSMEM2', 'score': 5.74}, {'connected_gene': 'LINC02019', 'score': 0.37}]
chr3 GH03I050637 50636095 50636469 0.38 [{'connected_gene': 'MAPKAPK3', 'score': 0.34}, {'connected_gene': 'CISH', 'score': 0.34}, {'connected_gene': 'LINC02019', 'score': 0.29}]
chr3 GH03I050655 50655250 50655299 0.58 [{'connected_gene': 'MAPKAPK3', 'score': 10.59}, {'connected_gene': 'CISH', 'score': 10.59}, {'connected_gene': 'LINC02019', 'score': 0.39}]
chr3 GH03I050154 50154448 50173170 2.73 [{'connected_gene': 'SEMA3F', 'score': 560.53}, {'connected_gene': 'RBM6', 'score': 30.9}, {'connected_gene': 'RBM5', 'score': 15.13}, {'connected_gene': 'MON1A', 'score': 14.05}, {'connected_gene': 'GNAI2', 'score': 13.23}, {'connected_gene': 'HYAL3', 'score': 12.49}, {'connected_gene': 'CYB561D2', 'score': 10.14}, {'connected_gene': 'CCDC36', 'score': 6.35}, {'connected_gene': 'MAPKAPK3', 'score': 6.18}, {'connected_gene': 'KLHDC8B', 'score': 5.35}, {'connected_gene': 'DOCK3', 'score': 4.3}, {'connected_gene': 'IFRD2', 'score': 4.12}, {'connected_gene': 'HYAL2', 'score': 3.99}, {'connected_gene': 'TUSC2', 'score': 2.74}, {'connected_gene': 'MST1R', 'score': 2.4}, {'connected_gene': 'FAM212A', 'score': 2.21}, {'connected_gene': 'GMPPB', 'score': 1.37}, {'connected_gene': 'SEMA3F-AS1', 'score': 0.44}, {'connected_gene': 'GC03P050173', 'score': 0.44}]
chr3 GH03I050648 50648183 50650695 0.54 [{'connected_gene': 'HEMK1', 'score': 20.55}, {'connected_gene': 'MAPKAPK3', 'score': 11.53}, {'connected_gene': 'CISH', 'score': 11.53}, {'connected_gene': 'C3orf18', 'score': 11.35}, {'connected_gene': 'LSMEM2', 'score': 5.74}, {'connected_gene': 'LINC02019', 'score': 0.34}]
chr3 GH03I050636 50636882 50637492 0.2 [{'connected_gene': 'HEMK1', 'score': 9.17}, {'connected_gene': 'MAPKAPK3', 'score': 0.31}, {'connected_gene': 'CISH', 'score': 0.31}, {'connected_gene': 'LINC02019', 'score': 0.29}]
chr3 GH03I050446 50446906 50448115 0.84 [{'connected_gene': 'HEMK1', 'score': 10.61}, {'connected_gene': 'MAPKAPK3', 'score': 4.09}, {'connected_gene': 'RASSF1', 'score': 2.43}, {'connected_gene': 'GNAI2', 'score': 1.74}, {'connected_gene': 'CYB561D2', 'score': 1.39}, {'connected_gene': 'LOC105377082', 'score': 0.44}, {'connected_gene': 'RNA5SP131', 'score': 0.31}, {'connected_gene': 'CACNA2D2', 'score': 0.22}]
chr3 GH03I050566 50566925 50576881 2.8 [{'connected_gene': 'HEMK1', 'score': 562.7}, {'connected_gene': 'C3orf18', 'score': 553.38}, {'connected_gene': 'CISH', 'score': 38.49}, {'connected_gene': 'RBM5', 'score': 31.53}, {'connected_gene': 'RBM6', 'score': 27.82}, {'connected_gene': 'RAD54L2', 'score': 25.2}, {'connected_gene': 'SEMA3F-AS1', 'score': 23.06}, {'connected_gene': 'MAPKAPK3', 'score': 14.17}, {'connected_gene': 'DOCK3', 'score': 11.02}, {'connected_gene': 'TMEM115', 'score': 10.62}, {'connected_gene': 'DCAF1', 'score': 9.94}, {'connected_gene': 'RASSF1', 'score': 4.27}, {'connected_gene': 'LINC02019', 'score': 3.84}, {'connected_gene': 'NPRL2', 'score': 2.53}, {'connected_gene': 'CYB561D2', 'score': 1.85}]
chr3 GH03I050638 50638074 50639860 0.83 [{'connected_gene': 'HEMK1', 'score': 9.39}, {'connected_gene': 'NAT6', 'score': 5.4}, {'connected_gene': 'MAPKAPK3', 'score': 0.31}, {'connected_gene': 'CISH', 'score': 0.31}, {'connected_gene': 'LINC02019', 'score': 0.29}]
chr3 GH03I050643 50643290 50644001 0.2 [{'connected_gene': 'HEMK1', 'score': 9.38}, {'connected_gene': 'LSMEM2', 'score': 5.74}, {'connected_gene': 'LINC02019', 'score': 0.31}, {'connected_gene': 'MAPKAPK3', 'score': 0.29}, {'connected_gene': 'CISH', 'score': 0.29}]
chr3 GH03I050390 50390212 50391761 0.77 [{'connected_gene': 'HEMK1', 'score': 7.65}, {'connected_gene': 'CYB561D2', 'score': 5.74}, {'connected_gene': 'MAPKAPK3', 'score': 4.07}, {'connected_gene': 'GC03P050405', 'score': 0.39}, {'connected_gene': 'ENSG00000271858', 'score': 0.31}, {'connected_gene': 'CACNA2D2', 'score': 0.14}]
chr3 GH03I050234 50234631 50255880 2.78 [{'connected_gene': 'GNAI2', 'score': 569.2}, {'connected_gene': 'HYAL3', 'score': 35.42}, {'connected_gene': 'RBM5', 'score': 27.81}, {'connected_gene': 'SEMA3F-AS1', 'score': 26.99}, {'connected_gene': 'RBM6', 'score': 23.84}, {'connected_gene': 'HYAL1', 'score': 17.03}, {'connected_gene': 'CYB561D2', 'score': 15.14}, {'connected_gene': 'RHOA-IT1', 'score': 14.23}, {'connected_gene': 'AMT', 'score': 14.19}, {'connected_gene': 'HEMK1', 'score': 14.15}, {'connected_gene': 'TMEM115', 'score': 13.49}, {'connected_gene': 'SEMA3B-AS1', 'score': 13.32}, {'connected_gene': 'SEMA3B', 'score': 13.32}, {'connected_gene': 'LSMEM2', 'score': 13.27}, {'connected_gene': 'NAT6', 'score': 12.99}, {'connected_gene': 'RASSF1', 'score': 12.62}, {'connected_gene': 'IFRD2', 'score': 12.32}, {'connected_gene': 'SEMA3F', 'score': 11.68}, {'connected_gene': 'UBA7', 'score': 10.27}, {'connected_gene': 'IP6K1', 'score': 8.84}, {'connected_gene': 'DOCK3', 'score': 5.02}, {'connected_gene': 'ENSG00000230454', 'score': 4.17}, {'connected_gene': 'MAPKAPK3', 'score': 4.06}, {'connected_gene': 'ENSG00000213600', 'score': 0.44}]
chr3 GH03I050587 50587521 50593625 1.7 [{'connected_gene': 'RAD54L2', 'score': 13.59}, {'connected_gene': 'DCAF1', 'score': 13.43}, {'connected_gene': 'HEMK1', 'score': 10.94}, {'connected_gene': 'TMEM115', 'score': 10.25}, {'connected_gene': 'RBM6', 'score': 9.77}, {'connected_gene': 'RASSF1', 'score': 7.74}, {'connected_gene': 'MAPKAPK3', 'score': 4.56}, {'connected_gene': 'HYAL1', 'score': 4.33}, {'connected_gene': 'DOCK3', 'score': 3.86}, {'connected_gene': 'CISH', 'score': 3.47}, {'connected_gene': 'RBM5', 'score': 2.13}, {'connected_gene': 'CACNA2D2', 'score': 1.62}, {'connected_gene': 'GC03P050587', 'score': 0.77}, {'connected_gene': 'PIR50420', 'score': 0.77}, {'connected_gene': 'ENSG00000280382', 'score': 0.39}]
chr3 GH03I050614 50614150 50614339 1 [{'connected_gene': 'DOCK3', 'score': 19.57}, {'connected_gene': 'C3orf18', 'score': 12.35}, {'connected_gene': 'HEMK1', 'score': 12.34}, {'connected_gene': 'MANF', 'score': 10.68}, {'connected_gene': 'MAPKAPK3', 'score': 0.77}, {'connected_gene': 'CISH', 'score': 0.77}, {'connected_gene': 'LINC02019', 'score': 0.22}]
chr3 GH03I050449 50449319 50451603 1 [{'connected_gene': 'DOCK3', 'score': 11.21}, {'connected_gene': 'RASSF1', 'score': 7.98}, {'connected_gene': 'HEMK1', 'score': 7.19}, {'connected_gene': 'GNAI2', 'score': 4.85}, {'connected_gene': 'CYB561D2', 'score': 4.77}, {'connected_gene': 'RBM5', 'score': 4.72}, {'connected_gene': 'MAPKAPK3', 'score': 4.4}, {'connected_gene': 'CACNA2D2', 'score': 1.92}, {'connected_gene': 'LOC105377082', 'score': 0.77}, {'connected_gene': 'RNA5SP131', 'score': 0.29}]
chr3 GH03I050645 50645192 50646487 0.2 [{'connected_gene': 'LSMEM2', 'score': 5.74}, {'connected_gene': 'LINC02019', 'score': 0.34}, {'connected_gene': 'MAPKAPK3', 'score': 0.29}, {'connected_gene': 'CISH', 'score': 0.29}]
chr3 GH03I050598 50598964 50614009 3.21 [{'connected_gene': 'CISH', 'score': 557.82}, {'connected_gene': 'MAPKAPK3', 'score': 554.96}, {'connected_gene': 'HEMK1', 'score': 34.01}, {'connected_gene': 'RBM5', 'score': 31.64}, {'connected_gene': 'RBM6', 'score': 31.48}, {'connected_gene': 'TMEM115', 'score': 23.58}, {'connected_gene': 'RAD54L2', 'score': 22.02}, {'connected_gene': 'SEMA3F-AS1', 'score': 15.35}, {'connected_gene': 'C3orf18', 'score': 14.08}, {'connected_gene': 'DOCK3', 'score': 11.29}, {'connected_gene': 'RASSF1', 'score': 10.86}, {'connected_gene': 'MANF', 'score': 10.68}, {'connected_gene': 'UBA7', 'score': 10.65}, {'connected_gene': 'NAT6', 'score': 10.24}, {'connected_gene': 'TRAIP', 'score': 9.95}, {'connected_gene': 'HYAL1', 'score': 3.89}, {'connected_gene': 'ENSG00000230454', 'score': 3.87}, {'connected_gene': 'ENSG00000280382', 'score': 0.44}]
chr3 GH03I050201 50201679 50206501 2.06 [{'connected_gene': 'SLC38A3', 'score': 557.57}, {'connected_gene': 'RBM6', 'score': 15.59}, {'connected_gene': 'GNAI2', 'score': 13.11}, {'connected_gene': 'SEMA3B-AS1', 'score': 12.15}, {'connected_gene': 'SEMA3B', 'score': 12.15}, {'connected_gene': 'LSMEM2', 'score': 12.13}, {'connected_gene': 'CYB561D2', 'score': 11.97}, {'connected_gene': 'HYAL3', 'score': 11.95}, {'connected_gene': 'SEMA3F', 'score': 11.71}, {'connected_gene': 'SEMA3F-AS1', 'score': 11.4}, {'connected_gene': 'RBM5', 'score': 10.47}, {'connected_gene': 'HYAL1', 'score': 5.96}, {'connected_gene': 'MST1', 'score': 4.75}, {'connected_gene': 'MAPKAPK3', 'score': 4.08}, {'connected_gene': 'GNAT1', 'score': 0.39}]
chr3 GH03I051582 51582185 51582334 0.43 [{'connected_gene': 'RNU6ATAC29P', 'score': 12.98}, {'connected_gene': 'DCAF1', 'score': 10.79}, {'connected_gene': 'MAPKAPK3', 'score': 4.72}, {'connected_gene': 'GC03M051578', 'score': 0.39}, {'connected_gene': 'RAD54L2', 'score': 0.26}, {'connected_gene': 'GC03P051541', 'score': 0.26}]
chr3 GH03I050581 50581278 50587030 0.95 [{'connected_gene': 'PIR34243', 'score': 550.77}, {'connected_gene': 'MAPKAPK3', 'score': 12.8}, {'connected_gene': 'CISH', 'score': 12.8}, {'connected_gene': 'C3orf18', 'score': 0.39}, {'connected_gene': 'HEMK1', 'score': 0.37}]

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