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
NM_001290050 [[4903091, 4903657], [4910887, 4911050], [4929233, 4929488], [4930727, 4930888], [4932752, 4932968], [4941539, 4941640], [4941756, 4941943], [4944143, 4944267], [4944354, 4944462], [4945872, 4945977], [4947116, 4947223], [4950622, 4950785], [4950870, 4951008], [4954361, 4954500], [4954661, 4954678], [4954680, 4954833], [4956719, 4956824], [4960667, 4962165]] [[4910897, 4911050], [4929233, 4929488], [4930727, 4930888], [4932752, 4932968], [4941539, 4941640], [4941756, 4941943], [4944143, 4944267], [4944354, 4944462], [4945872, 4945977], [4947116, 4947223], [4950622, 4950785], [4950870, 4951008], [4954361, 4954500], [4954661, 4954678], [4954680, 4954833], [4956719, 4956824], [4960667, 4960814]]
NM_001048201 [[4909441, 4909667], [4910887, 4911050], [4929233, 4929488], [4930727, 4930888], [4932752, 4932968], [4941539, 4941640], [4941756, 4941943], [4944143, 4944267], [4944354, 4944462], [4945872, 4945977], [4947116, 4947223], [4950622, 4950785], [4950870, 4951008], [4954361, 4954500], [4954661, 4954678], [4954680, 4954833], [4956719, 4956824], [4960667, 4962165]] [[4910897, 4911050], [4929233, 4929488], [4930727, 4930888], [4932752, 4932968], [4941539, 4941640], [4941756, 4941943], [4944143, 4944267], [4944354, 4944462], [4945872, 4945977], [4947116, 4947223], [4950622, 4950785], [4950870, 4951008], [4954361, 4954500], [4954661, 4954678], [4954680, 4954833], [4956719, 4956824], [4960667, 4960814]]
NM_001290051 [[4910104, 4910258], [4910887, 4911050], [4929233, 4929488], [4930727, 4930888], [4932752, 4932968], [4941539, 4941640], [4941756, 4941943], [4944143, 4944267], [4944354, 4944462], [4945872, 4945977], [4947116, 4947223], [4950622, 4950785], [4950870, 4951008], [4954361, 4954500], [4954661, 4954678], [4954680, 4954833], [4956719, 4956824], [4960667, 4962165]] [[4910897, 4911050], [4929233, 4929488], [4930727, 4930888], [4932752, 4932968], [4941539, 4941640], [4941756, 4941943], [4944143, 4944267], [4944354, 4944462], [4945872, 4945977], [4947116, 4947223], [4950622, 4950785], [4950870, 4951008], [4954361, 4954500], [4954661, 4954678], [4954680, 4954833], [4956719, 4956824], [4960667, 4960814]]
NM_001290052 [[4910378, 4910506], [4910887, 4911050], [4929233, 4929488], [4930727, 4930888], [4932752, 4932968], [4941539, 4941640], [4941756, 4941943], [4944143, 4944267], [4944354, 4944462], [4945872, 4945977], [4947116, 4947223], [4950622, 4950785], [4950870, 4951008], [4954361, 4954500], [4954661, 4954678], [4954680, 4954833], [4956719, 4956824], [4960667, 4962165]] [[4910897, 4911050], [4929233, 4929488], [4930727, 4930888], [4932752, 4932968], [4941539, 4941640], [4941756, 4941943], [4944143, 4944267], [4944354, 4944462], [4945872, 4945977], [4947116, 4947223], [4950622, 4950785], [4950870, 4951008], [4954361, 4954500], [4954661, 4954678], [4954680, 4954833], [4956719, 4956824], [4960667, 4960814]]
NM_013282 [[4910378, 4911050], [4929233, 4929488], [4930727, 4930888], [4932752, 4932968], [4941539, 4941640], [4941756, 4941943], [4944143, 4944267], [4944354, 4944462], [4945872, 4945977], [4947116, 4947223], [4950622, 4950785], [4950870, 4951008], [4954361, 4954500], [4954661, 4954678], [4954680, 4954833], [4956719, 4956824], [4960667, 4962165]] [[4910858, 4911050], [4929233, 4929488], [4930727, 4930888], [4932752, 4932968], [4941539, 4941640], [4941756, 4941943], [4944143, 4944267], [4944354, 4944462], [4945872, 4945977], [4947116, 4947223], [4950622, 4950785], [4950870, 4951008], [4954361, 4954500], [4954661, 4954678], [4954680, 4954833], [4956719, 4956824], [4960667, 4960814]]
Promoter
Chrom Start End Description
chr19 4909505 4909520 CAGE_peak_1_at_UHRF1_5end
chr19 4910094 4910138 CAGE_peak_3_at_UHRF1_5end
chr19 4910143 4910175 CAGE_peak_2_at_UHRF1_5end
chr19 4910177 4910205 CAGE_peak_4_at_UHRF1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I005112 5112159 5114447 0.63 [{'connected_gene': 'SAFB2', 'score': 19.59}, {'connected_gene': 'ENSG00000267030', 'score': 12.25}, {'connected_gene': 'HDGFL2', 'score': 11.48}, {'connected_gene': 'KDM4B', 'score': 11.04}, {'connected_gene': 'PLIN3', 'score': 10.5}, {'connected_gene': 'RANBP3', 'score': 10.36}, {'connected_gene': 'ZNRF4', 'score': 10.24}, {'connected_gene': 'UHRF1', 'score': 4.72}, {'connected_gene': 'GC19P005127', 'score': 0.39}, {'connected_gene': 'GC19P005074', 'score': 0.28}]
chr19 GH19I004902 4902880 4902939 0.79 [{'connected_gene': 'ARRDC5', 'score': 557.2}, {'connected_gene': 'UHRF1', 'score': 550.77}, {'connected_gene': 'GC19M004863', 'score': 0.39}]
chr19 GH19I005044 5044356 5045476 0.38 [{'connected_gene': 'PTPRS', 'score': 10.56}, {'connected_gene': 'UHRF1', 'score': 4.67}, {'connected_gene': 'GC19P005074', 'score': 0.31}, {'connected_gene': 'GC19M004987', 'score': 0.22}, {'connected_gene': 'KDM4B', 'score': 0.18}]
chr19 GH19I005041 5041296 5041943 0.56 [{'connected_gene': 'PTPRS', 'score': 10.56}, {'connected_gene': 'UHRF1', 'score': 5.73}, {'connected_gene': 'GC19P005074', 'score': 0.29}, {'connected_gene': 'GC19M004987', 'score': 0.23}, {'connected_gene': 'KDM4B', 'score': 0.19}]
chr19 GH19I005125 5125248 5133510 1.55 [{'connected_gene': 'UHRF1', 'score': 5.65}, {'connected_gene': 'SAFB2', 'score': 1.76}, {'connected_gene': 'GC19P005127', 'score': 0.77}, {'connected_gene': 'PIR36975', 'score': 0.37}, {'connected_gene': 'KDM4B', 'score': 0.1}]
chr19 GH19I004896 4896470 4896618 0.54 [{'connected_gene': 'UHRF1', 'score': 0.44}, {'connected_gene': 'GC19M004863', 'score': 0.44}, {'connected_gene': 'ARRDC5', 'score': 0.34}]
chr19 GH19I004897 4896949 4896987 0.2 [{'connected_gene': 'UHRF1', 'score': 0.44}, {'connected_gene': 'GC19M004863', 'score': 0.44}, {'connected_gene': 'ARRDC5', 'score': 0.37}]
chr19 GH19I004895 4895496 4896025 0.83 [{'connected_gene': 'UHRF1', 'score': 0.44}, {'connected_gene': 'GC19M004863', 'score': 0.44}, {'connected_gene': 'ARRDC5', 'score': 0.34}]
chr19 GH19I004900 4900801 4901400 0.31 [{'connected_gene': 'UHRF1', 'score': 550.77}, {'connected_gene': 'GC19M004863', 'score': 0.39}, {'connected_gene': 'ARRDC5', 'score': 0.37}]
chr19 GH19I004907 4907921 4917444 2.68 [{'connected_gene': 'UHRF1', 'score': 555.71}, {'connected_gene': 'ENSG00000267030', 'score': 20.23}, {'connected_gene': 'SAFB', 'score': 19.83}, {'connected_gene': 'SAFB2', 'score': 16.48}, {'connected_gene': 'KDM4B', 'score': 13.01}, {'connected_gene': 'DPP9-AS1', 'score': 12.71}, {'connected_gene': 'DUS3L', 'score': 12.41}, {'connected_gene': 'PLIN3', 'score': 12.21}, {'connected_gene': 'VMAC', 'score': 10.65}, {'connected_gene': 'ENSG00000267769', 'score': 10.52}, {'connected_gene': 'CCDC94', 'score': 9.93}, {'connected_gene': 'PTPRS', 'score': 9.87}, {'connected_gene': 'ARRDC5', 'score': 7.99}]
chr19 GH19I005063 5063608 5065769 0.2 [{'connected_gene': 'UHRF1', 'score': 4.96}, {'connected_gene': 'GC19P005074', 'score': 0.44}, {'connected_gene': 'GC19M004987', 'score': 0.18}, {'connected_gene': 'KDM4B', 'score': 0.15}]
chr19 GH19I005122 5122566 5124749 0.46 [{'connected_gene': 'UHRF1', 'score': 5.04}, {'connected_gene': 'GC19P005127', 'score': 0.77}, {'connected_gene': 'GC19P005074', 'score': 0.25}, {'connected_gene': 'KDM4B', 'score': 0.1}]
chr19 GH19I005026 5026334 5027501 0.38 [{'connected_gene': 'UHRF1', 'score': 5.22}, {'connected_gene': 'GC19M004987', 'score': 0.28}, {'connected_gene': 'GC19P005074', 'score': 0.25}, {'connected_gene': 'KDM4B', 'score': 0.22}]
chr19 GH19I005040 5040256 5041216 0.52 [{'connected_gene': 'UHRF1', 'score': 6.13}, {'connected_gene': 'GC19P005074', 'score': 0.29}, {'connected_gene': 'GC19M004987', 'score': 0.23}, {'connected_gene': 'KDM4B', 'score': 0.19}]
chr19 GH19I005117 5117862 5118874 0.31 [{'connected_gene': 'UHRF1', 'score': 5.39}, {'connected_gene': 'GC19P005127', 'score': 0.44}, {'connected_gene': 'GC19P005074', 'score': 0.26}, {'connected_gene': 'KDM4B', 'score': 0.11}]
chr19 GH19I005035 5035210 5038231 0.94 [{'connected_gene': 'UHRF1', 'score': 6.26}, {'connected_gene': 'GC19P005074', 'score': 0.28}, {'connected_gene': 'GC19M004987', 'score': 0.25}, {'connected_gene': 'KDM4B', 'score': 0.2}]
chr19 GH19I005090 5090669 5094103 1.35 [{'connected_gene': 'UHRF1', 'score': 5.16}, {'connected_gene': 'GC19P005074', 'score': 0.37}, {'connected_gene': 'GC19P005127', 'score': 0.29}, {'connected_gene': 'KDM4B', 'score': 0.13}]
chr19 GH19I005052 5052850 5055180 0.43 [{'connected_gene': 'UHRF1', 'score': 6.43}, {'connected_gene': 'GC19P005074', 'score': 0.34}, {'connected_gene': 'GC19M004987', 'score': 0.2}, {'connected_gene': 'KDM4B', 'score': 0.18}]
chr19 GH19I004987 4987261 4993179 1.72 [{'connected_gene': 'KDM4B', 'score': 567.14}, {'connected_gene': 'GC19M004987', 'score': 550.77}, {'connected_gene': 'ARRDC5', 'score': 11.96}, {'connected_gene': 'PLIN3', 'score': 11.24}, {'connected_gene': 'PTPRS', 'score': 10.4}, {'connected_gene': 'UHRF1', 'score': 5.8}, {'connected_gene': 'GC19P005074', 'score': 0.18}]
chr19 GH19I004974 4974401 4979819 1.55 [{'connected_gene': 'KDM4B', 'score': 17.92}, {'connected_gene': 'UHRF1', 'score': 6.25}, {'connected_gene': 'TICAM1', 'score': 2.34}, {'connected_gene': 'PIR49056', 'score': 0.44}, {'connected_gene': 'GC19M004987', 'score': 0.39}]
chr19 GH19I004926 4926593 4928292 1.12 [{'connected_gene': 'KDM4B', 'score': 12.32}, {'connected_gene': 'PLIN3', 'score': 11.99}, {'connected_gene': 'MIR4747', 'score': 0.44}, {'connected_gene': 'GC19M004917', 'score': 0.44}, {'connected_gene': 'UHRF1', 'score': 0.34}]
chr19 GH19I004928 4928491 4929817 0.52 [{'connected_gene': 'KDM4B', 'score': 12.39}, {'connected_gene': 'PLIN3', 'score': 11.98}, {'connected_gene': 'MIR4747', 'score': 0.77}, {'connected_gene': 'GC19M004917', 'score': 0.44}, {'connected_gene': 'UHRF1', 'score': 0.31}]
chr19 GH19I005045 5045751 5050224 1.34 [{'connected_gene': 'PLIN3', 'score': 11.22}, {'connected_gene': 'PTPRS', 'score': 10.64}, {'connected_gene': 'ZNRF4', 'score': 10.28}, {'connected_gene': 'UHRF1', 'score': 5.5}, {'connected_gene': 'GC19P005074', 'score': 0.31}, {'connected_gene': 'GC19M004987', 'score': 0.22}, {'connected_gene': 'KDM4B', 'score': 0.18}]
chr19 GH19I004876 4876727 4880119 0.86 [{'connected_gene': 'PLIN3', 'score': 6.57}, {'connected_gene': 'UHRF1', 'score': 6.28}, {'connected_gene': 'GC19M004869', 'score': 0.44}, {'connected_gene': 'GC19M004864', 'score': 0.39}, {'connected_gene': 'GC19M004863', 'score': 0.39}]
chr19 GH19I004936 4936801 4936828 0.23 [{'connected_gene': 'MIR4747', 'score': 0.77}, {'connected_gene': 'GC19P004953', 'score': 0.37}, {'connected_gene': 'UHRF1', 'score': 0.29}]
chr19 GH19I004933 4933669 4933818 0.46 [{'connected_gene': 'MIR4747', 'score': 550.77}, {'connected_gene': 'GC19P004953', 'score': 0.37}, {'connected_gene': 'UHRF1', 'score': 0.29}]
chr19 GH19I004930 4930129 4931407 0.46 [{'connected_gene': 'MIR4747', 'score': 550.77}, {'connected_gene': 'PLIN3', 'score': 11.97}, {'connected_gene': 'PTPRS', 'score': 6.5}, {'connected_gene': 'GC19M004917', 'score': 0.44}, {'connected_gene': 'UHRF1', 'score': 0.31}]
chr19 GH19I004889 4889549 4889698 0.31 [{'connected_gene': 'GC19M004864', 'score': 550.77}, {'connected_gene': 'GC19M004863', 'score': 550.77}, {'connected_gene': 'ARRDC5', 'score': 7.65}, {'connected_gene': 'UHRF1', 'score': 0.39}]
chr19 GH19I004951 4951749 4951898 0.2 [{'connected_gene': 'GC19P004953', 'score': 550.77}, {'connected_gene': 'GC19P004952', 'score': 550.77}, {'connected_gene': 'ARRDC5', 'score': 11.97}, {'connected_gene': 'PLIN3', 'score': 11.49}, {'connected_gene': 'MIR4747', 'score': 0.37}, {'connected_gene': 'UHRF1', 'score': 0.25}]
chr19 GH19I005074 5074510 5075122 0.51 [{'connected_gene': 'GC19P005074', 'score': 550.77}, {'connected_gene': 'UHRF1', 'score': 5.34}, {'connected_gene': 'GC19P005127', 'score': 0.23}, {'connected_gene': 'KDM4B', 'score': 0.14}]
chr19 GH19I004922 4922601 4923000 0.31 [{'connected_gene': 'GC19M004917', 'score': 550.77}, {'connected_gene': 'PLIN3', 'score': 12.35}, {'connected_gene': 'KDM4B', 'score': 12.3}, {'connected_gene': 'MIR4747', 'score': 0.44}, {'connected_gene': 'UHRF1', 'score': 0.37}]

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