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
ENST00000337630 [[13236493, 13238177], [13240085, 13240197], [13240840, 13240993], [13241795, 13241843], [13243436, 13243752], [13248532, 13248609]] [[13237834, 13238177], [13240085, 13240197], [13240840, 13240993], [13241795, 13241843], [13243436, 13243752], [13248532, 13248541]]
ENST00000396310 [[13237041, 13238177], [13240085, 13240197], [13241795, 13241843], [13242141, 13242210], [13243436, 13243752], [13248532, 13248709]] [[13237834, 13238177], [13240085, 13240197], [13241795, 13241843], [13242141, 13242210], [13243436, 13243752]]
ENST00000324458 [[13237041, 13238177], [13240085, 13240197], [13240840, 13240993], [13241795, 13241843], [13242141, 13242210], [13243436, 13243752], [13256398, 13256619]] [[13237834, 13238177], [13240085, 13240197], [13240840, 13240993], [13241795, 13241843], [13242141, 13242210], [13243436, 13243752], [13256398, 13256446]]
ENST00000396302 [[13237510, 13238177], [13240085, 13240197], [13240840, 13240993], [13241671, 13241843], [13243436, 13243752], [13248532, 13248740]] [[13238081, 13238177], [13240085, 13240197], [13240840, 13240993], [13241671, 13241843], [13243436, 13243752], [13248532, 13248541]]
ENST00000457134 [[13237520, 13238177], [13240085, 13240197], [13241795, 13241843], [13243436, 13243752], [13248532, 13248582]] [[13237834, 13238177], [13240085, 13240197], [13241795, 13241843], [13243436, 13243752], [13248532, 13248541]]
ENST00000432710 [[13237756, 13238177], [13240085, 13240197], [13240840, 13240993], [13241795, 13241843], [13243436, 13243752], [13256398, 13256579]] [[13237834, 13238177], [13240085, 13240197], [13240840, 13240993], [13241795, 13241843], [13243436, 13243752], [13256398, 13256446]]
ENST00000537302 [[13237758, 13238177], [13240085, 13240197], [13241795, 13241843], [13242141, 13242210], [13243436, 13243752], [13248532, 13248596]] [[13237834, 13238177], [13240085, 13240197], [13241795, 13241843], [13242141, 13242210], [13243436, 13243752], [13248532, 13248541]]
ENST00000351606 [[13237758, 13238177], [13240085, 13240197], [13240840, 13240993], [13241671, 13241843], [13242141, 13242210], [13243436, 13243752], [13256398, 13256579]] [[13238081, 13238177], [13240085, 13240197], [13240840, 13240993], [13241671, 13241843], [13242141, 13242210], [13243436, 13243752], [13256398, 13256446]]
ENST00000545401 [[13240178, 13240197], [13240840, 13240993], [13241671, 13241843], [13243436, 13243752], [13256398, 13256576]] [[13240178, 13240197], [13240840, 13240993], [13241671, 13241843], [13243436, 13243752], [13256398, 13256446]]
ENST00000542415 [[13240885, 13240993], [13241795, 13241843], [13242141, 13242282], [13243436, 13243752], [13256398, 13256617]] [[13240885, 13240993], [13241795, 13241843], [13242141, 13242282], [13243436, 13243752], [13256398, 13256446]]
ENST00000545699 [[13241676, 13241843], [13242141, 13242282], [13243436, 13243752], [13248532, 13248610]] [[13241676, 13241843], [13242141, 13242282], [13243436, 13243752], [13248532, 13248541]]
NM_001206843 [[13236470, 13238177], [13240085, 13240197], [13241795, 13241843], [13242141, 13242210], [13243436, 13243752], [13248532, 13248740]] [[13237834, 13238177], [13240085, 13240197], [13241795, 13241843], [13242141, 13242210], [13243436, 13243752], [13248532, 13248541]]
NM_031289 [[13236470, 13238177], [13240085, 13240197], [13240840, 13240993], [13241671, 13241843], [13243436, 13243752], [13248532, 13248740]] [[13238081, 13238177], [13240085, 13240197], [13240840, 13240993], [13241671, 13241843], [13243436, 13243752], [13248532, 13248541]]
NM_153823 [[13236470, 13238177], [13240085, 13240197], [13240840, 13240993], [13241795, 13241843], [13243436, 13243752], [13248532, 13248740]] [[13237834, 13238177], [13240085, 13240197], [13240840, 13240993], [13241795, 13241843], [13243436, 13243752], [13248532, 13248541]]
NM_001206845 [[13236470, 13238177], [13240085, 13240197], [13241795, 13241843], [13243436, 13243752], [13248532, 13248740]] [[13237834, 13238177], [13240085, 13240197], [13241795, 13241843], [13243436, 13243752], [13248532, 13248541]]
NM_001080554 [[13236470, 13238177], [13240085, 13240197], [13240840, 13240993], [13241671, 13241843], [13242141, 13242210], [13243436, 13243752], [13256398, 13256630]] [[13238081, 13238177], [13240085, 13240197], [13240840, 13240993], [13241671, 13241843], [13242141, 13242210], [13243436, 13243752], [13256398, 13256446]]
NM_001080555 [[13236470, 13238177], [13240085, 13240197], [13240840, 13240993], [13241795, 13241843], [13242141, 13242210], [13243436, 13243752], [13256398, 13256630]] [[13237834, 13238177], [13240085, 13240197], [13240840, 13240993], [13241795, 13241843], [13242141, 13242210], [13243436, 13243752], [13256398, 13256446]]
NM_001206842 [[13236470, 13238177], [13240085, 13240197], [13240840, 13240993], [13241795, 13241843], [13243436, 13243752], [13256398, 13256630]] [[13237834, 13238177], [13240085, 13240197], [13240840, 13240993], [13241795, 13241843], [13243436, 13243752], [13256398, 13256446]]
Promoter
Chrom Start End Description
chr12 13248562 13248595 CAGE_peak_4_at_GSG1_5end
chr12 13248598 13248630 CAGE_peak_3_at_GSG1_5end
chr12 13248705 13248710 CAGE_peak_6_at_GSG1_5end
chr12 13248732 13248744 CAGE_peak_7_at_GSG1_5end
chr12 13256511 13256522 CAGE_peak_5_at_GSG1_5end
chr12 13256571 13256592 CAGE_peak_1_at_GSG1_5end
chr12 13256593 13256617 CAGE_peak_2_at_GSG1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I013177 13177747 13180314 1.31 [{'connected_gene': 'GSG1', 'score': 11.79}, {'connected_gene': 'MIR614', 'score': 9.92}, {'connected_gene': 'EMP1', 'score': 5.62}, {'connected_gene': 'GC12M013185', 'score': 0.44}, {'connected_gene': 'GC12P013156', 'score': 0.31}]
chr12 GH12I013095 13095525 13096135 1.01 [{'connected_gene': 'GSG1', 'score': 550.44}, {'connected_gene': 'GC12P013100', 'score': 0.44}, {'connected_gene': 'PIR34161', 'score': 0.31}, {'connected_gene': 'FAM234B', 'score': 0.23}]
chr12 GH12I013093 13093202 13095199 1.46 [{'connected_gene': 'GSG1', 'score': 6.4}, {'connected_gene': 'EMP1', 'score': 5.94}, {'connected_gene': 'GC12P013100', 'score': 0.44}, {'connected_gene': 'PIR34161', 'score': 0.31}, {'connected_gene': 'FAM234B', 'score': 0.25}]
chr12 GH12I013096 13096463 13103713 2.58 [{'connected_gene': 'GSG1', 'score': 558.17}, {'connected_gene': 'LOC105369666', 'score': 550.77}, {'connected_gene': 'GC12P013100', 'score': 550.77}, {'connected_gene': 'HTR7P1', 'score': 5.05}, {'connected_gene': 'EMP1', 'score': 4.84}, {'connected_gene': 'CDKN1B', 'score': 3.9}, {'connected_gene': 'LOC105369665', 'score': 0.77}, {'connected_gene': 'PIR34161', 'score': 0.29}, {'connected_gene': 'FAM234B', 'score': 0.22}]
chr12 GH12I013060 13060698 13063327 1.03 [{'connected_gene': 'FAM234B', 'score': 21.07}, {'connected_gene': 'GSG1', 'score': 11.03}, {'connected_gene': 'EMP1', 'score': 10.8}, {'connected_gene': 'MIR614', 'score': 10.07}, {'connected_gene': 'DUSP16', 'score': 2.41}, {'connected_gene': 'PIR34161', 'score': 0.77}, {'connected_gene': 'GC12P013052', 'score': 0.44}]
chr12 GH12I013086 13086941 13089661 0.74 [{'connected_gene': 'FAM234B', 'score': 15.39}, {'connected_gene': 'HEBP1', 'score': 15.22}, {'connected_gene': 'EMP1', 'score': 11.55}, {'connected_gene': 'ENSG00000256011', 'score': 10.28}, {'connected_gene': 'ENSG00000255621', 'score': 10.27}, {'connected_gene': 'HTR7P1', 'score': 10.27}, {'connected_gene': 'MIR614', 'score': 10.09}, {'connected_gene': 'GPRC5D', 'score': 9.94}, {'connected_gene': 'GC12P013100', 'score': 0.39}, {'connected_gene': 'GSG1', 'score': 0.37}, {'connected_gene': 'PIR34161', 'score': 0.34}]
chr12 GH12I013117 13117767 13119464 0.58 [{'connected_gene': 'EMP1', 'score': 16.77}, {'connected_gene': 'HTR7P1', 'score': 6.71}, {'connected_gene': 'GC12P013123', 'score': 0.44}, {'connected_gene': 'GSG1', 'score': 0.39}, {'connected_gene': 'FAM234B', 'score': 0.19}]
chr12 GH12I013193 13193348 13212836 2.53 [{'connected_gene': 'EMP1', 'score': 555.63}, {'connected_gene': 'HTR7P1', 'score': 15.78}, {'connected_gene': 'MIR614', 'score': 11.87}, {'connected_gene': 'GSG1', 'score': 11.86}, {'connected_gene': 'DDX47', 'score': 11.73}, {'connected_gene': 'GPRC5D-AS1', 'score': 11.25}, {'connected_gene': 'ENSG00000255621', 'score': 11.25}, {'connected_gene': 'HEBP1', 'score': 11.25}, {'connected_gene': 'ENSG00000221611', 'score': 10.54}, {'connected_gene': 'LOH12CR2', 'score': 10.46}, {'connected_gene': 'ENSG00000256011', 'score': 10.46}, {'connected_gene': 'GPRC5D', 'score': 10.43}, {'connected_gene': 'GC12M013198', 'score': 0.77}, {'connected_gene': 'GC12M013206', 'score': 0.77}]
chr12 GH12I013163 13163402 13168224 1.35 [{'connected_gene': 'EMP1', 'score': 17.84}, {'connected_gene': 'ENSG00000255621', 'score': 15.43}, {'connected_gene': 'GSG1', 'score': 11.92}, {'connected_gene': 'HTR7P1', 'score': 11.0}, {'connected_gene': 'HEBP1', 'score': 11.0}, {'connected_gene': 'FAM234B', 'score': 4.61}, {'connected_gene': 'GC12P013156', 'score': 0.39}, {'connected_gene': 'GC12M013185', 'score': 0.34}]
chr12 GH12I013114 13114107 13117380 1.13 [{'connected_gene': 'EMP1', 'score': 11.21}, {'connected_gene': 'ENSG00000256011', 'score': 9.32}, {'connected_gene': 'GSG1', 'score': 6.15}, {'connected_gene': 'GC12P013123', 'score': 0.44}, {'connected_gene': 'FAM234B', 'score': 0.19}]
chr12 GH12I013079 13079208 13079939 1.04 [{'connected_gene': 'EMP1', 'score': 10.99}, {'connected_gene': 'GSG1', 'score': 10.92}, {'connected_gene': 'GPRC5D', 'score': 9.41}, {'connected_gene': 'PIR34161', 'score': 0.39}, {'connected_gene': 'GC12P013100', 'score': 0.34}, {'connected_gene': 'FAM234B', 'score': 0.28}]
chr12 GH12I013147 13147647 13149801 0.92 [{'connected_gene': 'EMP1', 'score': 12.57}, {'connected_gene': 'GSG1', 'score': 11.75}, {'connected_gene': 'GPRC5D', 'score': 9.95}, {'connected_gene': 'GC12P013156', 'score': 0.77}, {'connected_gene': 'GC12P013142', 'score': 0.44}]
chr12 GH12I013146 13146647 13146796 0.84 [{'connected_gene': 'EMP1', 'score': 12.17}, {'connected_gene': 'GSG1', 'score': 11.77}, {'connected_gene': 'GPRC5D', 'score': 9.53}, {'connected_gene': 'GC12P013142', 'score': 0.77}, {'connected_gene': 'GC12P013156', 'score': 0.44}]
chr12 GH12I013170 13170306 13170875 0.2 [{'connected_gene': 'EMP1', 'score': 12.82}, {'connected_gene': 'GSG1', 'score': 11.51}, {'connected_gene': 'GC12P013156', 'score': 0.37}, {'connected_gene': 'GC12M013185', 'score': 0.37}]
chr12 GH12I013171 13171194 13176566 1.44 [{'connected_gene': 'EMP1', 'score': 18.69}, {'connected_gene': 'GSG1', 'score': 11.8}, {'connected_gene': 'GC12M013185', 'score': 0.39}, {'connected_gene': 'GC12P013156', 'score': 0.34}]
chr12 GH12I013168 13168805 13169733 0.49 [{'connected_gene': 'EMP1', 'score': 12.82}, {'connected_gene': 'GSG1', 'score': 11.51}, {'connected_gene': 'GC12P013156', 'score': 0.37}, {'connected_gene': 'GC12M013185', 'score': 0.37}]
chr12 GH12I013214 13214726 13219465 0.43 [{'connected_gene': 'EMP1', 'score': 11.37}, {'connected_gene': 'MIR614', 'score': 11.31}, {'connected_gene': 'ENSG00000256011', 'score': 10.61}, {'connected_gene': 'ENSG00000221611', 'score': 10.53}, {'connected_gene': 'GPRC5D-AS1', 'score': 10.48}, {'connected_gene': 'GPRC5D', 'score': 10.42}, {'connected_gene': 'GSG1', 'score': 10.3}, {'connected_gene': 'GC12P013222', 'score': 0.44}, {'connected_gene': 'GC12M013206', 'score': 0.39}]
chr12 GH12I013104 13104536 13104711 0.63 [{'connected_gene': 'LOC105369665', 'score': 550.77}, {'connected_gene': 'GSG1', 'score': 550.77}, {'connected_gene': 'EMP1', 'score': 3.58}, {'connected_gene': 'GC12P013100', 'score': 0.77}, {'connected_gene': 'GC12P013123', 'score': 0.37}, {'connected_gene': 'FAM234B', 'score': 0.21}]
chr12 GH12I013130 13130801 13131000 0.2 [{'connected_gene': 'GC12M013129', 'score': 550.77}, {'connected_gene': 'GSG1', 'score': 11.86}, {'connected_gene': 'EMP1', 'score': 11.27}, {'connected_gene': 'PIR54575', 'score': 0.77}, {'connected_gene': 'GC12P013128', 'score': 0.77}, {'connected_gene': 'FAM234B', 'score': 0.17}]
chr12 GH12I013220 13220887 13221036 0.4 [{'connected_gene': 'GC12P013222', 'score': 550.77}, {'connected_gene': 'MIR614', 'score': 11.31}, {'connected_gene': 'ENSG00000256011', 'score': 10.61}, {'connected_gene': 'GSG1', 'score': 10.11}, {'connected_gene': 'GC12M013206', 'score': 0.39}]
chr12 GH12I013221 13221158 13224895 1.46 [{'connected_gene': 'GC12P013222', 'score': 550.77}, {'connected_gene': 'DDX47', 'score': 13.7}, {'connected_gene': 'MIR614', 'score': 11.31}, {'connected_gene': 'ENSG00000256011', 'score': 10.61}, {'connected_gene': 'GSG1', 'score': 10.11}, {'connected_gene': 'HEBP1', 'score': 1.93}, {'connected_gene': 'GC12M013223', 'score': 0.77}]
chr12 GH12I012683 12683987 12686148 1.7 [{'connected_gene': 'GC12P012687', 'score': 550.77}, {'connected_gene': 'GPR19', 'score': 550.29}, {'connected_gene': 'CDKN1B', 'score': 11.38}, {'connected_gene': 'ENSG00000240424', 'score': 11.29}, {'connected_gene': 'DUSP16', 'score': 11.29}, {'connected_gene': 'MANSC1', 'score': 10.12}, {'connected_gene': 'APOLD1', 'score': 5.52}, {'connected_gene': 'FAM234B', 'score': 4.28}, {'connected_gene': 'GSG1', 'score': 3.04}, {'connected_gene': 'ENSG00000257004', 'score': 0.37}]
chr12 GH12I013133 13133873 13137185 1.15 [{'connected_gene': 'GC12P013134', 'score': 550.77}, {'connected_gene': 'EMP1', 'score': 23.79}, {'connected_gene': 'GSG1', 'score': 12.99}, {'connected_gene': 'MIR614', 'score': 10.39}, {'connected_gene': 'ENSG00000255621', 'score': 9.7}, {'connected_gene': 'HTR7P1', 'score': 9.7}, {'connected_gene': 'HEBP1', 'score': 9.7}, {'connected_gene': 'GC12P013138', 'score': 0.77}, {'connected_gene': 'FAM234B', 'score': 0.16}]
chr12 GH12I013127 13127732 13129503 0.52 [{'connected_gene': 'GC12P013128', 'score': 550.77}, {'connected_gene': 'PIR54575', 'score': 550.77}, {'connected_gene': 'EMP1', 'score': 12.15}, {'connected_gene': 'GSG1', 'score': 11.89}, {'connected_gene': 'MIR614', 'score': 10.18}, {'connected_gene': 'ENSG00000255621', 'score': 9.88}, {'connected_gene': 'HTR7P1', 'score': 9.88}, {'connected_gene': 'HEBP1', 'score': 9.88}, {'connected_gene': 'GC12M013129', 'score': 0.77}, {'connected_gene': 'FAM234B', 'score': 0.18}]
chr12 GH12I013131 13131861 13132965 0.2 [{'connected_gene': 'GC12M013129', 'score': 550.77}, {'connected_gene': 'EMP1', 'score': 25.28}, {'connected_gene': 'GSG1', 'score': 11.86}, {'connected_gene': 'GC12P013134', 'score': 0.77}, {'connected_gene': 'FAM234B', 'score': 0.17}]
chr12 GH12I013008 13008333 13009831 0.2 [{'connected_gene': 'ENSG00000221611', 'score': 10.6}, {'connected_gene': 'EMP1', 'score': 10.54}, {'connected_gene': 'GSG1', 'score': 10.44}, {'connected_gene': 'GPRC5D', 'score': 10.43}, {'connected_gene': 'GPRC5D-AS1', 'score': 10.35}, {'connected_gene': 'MIR614', 'score': 10.21}, {'connected_gene': 'ENSG00000255621', 'score': 8.4}, {'connected_gene': 'GC12P013002', 'score': 0.44}, {'connected_gene': 'RPS26P46', 'score': 0.39}]
chr12 GH12I013153 13153946 13154800 0.58 [{'connected_gene': 'GC12P013156', 'score': 550.77}, {'connected_gene': 'EMP1', 'score': 12.08}, {'connected_gene': 'GSG1', 'score': 11.92}, {'connected_gene': 'GC12M013185', 'score': 0.29}]
chr12 GH12I013152 13152387 13152536 0.4 [{'connected_gene': 'GC12P013156', 'score': 550.77}, {'connected_gene': 'EMP1', 'score': 12.59}, {'connected_gene': 'GSG1', 'score': 11.46}, {'connected_gene': 'GC12M013185', 'score': 0.29}]
chr12 GH12I013005 13005767 13005956 0.52 [{'connected_gene': 'ENSG00000221611', 'score': 10.62}, {'connected_gene': 'EMP1', 'score': 10.54}, {'connected_gene': 'GPRC5D', 'score': 10.43}, {'connected_gene': 'MIR614', 'score': 10.21}, {'connected_gene': 'GSG1', 'score': 10.14}, {'connected_gene': 'GC12P013002', 'score': 0.77}, {'connected_gene': 'ENSG00000255621', 'score': 0.44}, {'connected_gene': 'RPS26P46', 'score': 0.37}]

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