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
ENST00000537625 [[13214648, 13214697], [13215778, 13215909], [13219573, 13219721], [13220088, 13220230], [13221237, 13221381], [13221563, 13221645], [13224174, 13224330], [13228959, 13229077], [13294414, 13295455]] [[13214648, 13214697], [13215778, 13215909], [13219573, 13219721], [13220088, 13220230], [13221237, 13221381], [13221563, 13221645], [13224174, 13224330], [13228959, 13229077], [13294414, 13294419]]
ENST00000197268 [[13197217, 13197374], [13208484, 13208880], [13211384, 13211483], [13214508, 13214697], [13215778, 13215909], [13219573, 13219721], [13220088, 13220230], [13221237, 13221381], [13221563, 13221645], [13224174, 13224330], [13228959, 13229077], [13232722, 13232943], [13233558, 13236383]] [[13197337, 13197374], [13208484, 13208880], [13211384, 13211483], [13214508, 13214697], [13215778, 13215909], [13219573, 13219721], [13220088, 13220230], [13221237, 13221381], [13221563, 13221645], [13224174, 13224330], [13228959, 13229077], [13232722, 13232943], [13233558, 13233564]]
ENST00000416494 [[13197314, 13197374], [13208484, 13208880], [13211384, 13211483], [13214508, 13214697], [13215778, 13215909], [13219573, 13219721], [13220088, 13220230], [13221237, 13221381], [13221563, 13221645], [13224174, 13224330], [13228959, 13229077], [13232722, 13232943], [13233558, 13233848], [13235936, 13236383]] [[13197337, 13197374], [13208484, 13208880], [13211384, 13211483], [13214508, 13214697], [13215778, 13215909], [13219573, 13219721], [13220088, 13220230], [13221237, 13221381], [13221563, 13221645], [13224174, 13224330], [13228959, 13229077], [13232722, 13232943], [13233558, 13233564]]
ENST00000535974 [[13215113, 13215656], [13215778, 13215813]] None
ENST00000541950 [[13215689, 13215909], [13221237, 13221381], [13221563, 13221645], [13224174, 13224330], [13228959, 13229077], [13232765, 13232943], [13233558, 13234246]] None
ENST00000540455 [[13219762, 13220230], [13221237, 13221308]] None
NM_020853 [[13197314, 13197374], [13208484, 13208880], [13211384, 13211483], [13214508, 13214697], [13215778, 13215909], [13219573, 13219721], [13220088, 13220230], [13221237, 13221381], [13221563, 13221645], [13224174, 13224330], [13228959, 13229077], [13232722, 13232943], [13233558, 13236383]] [[13197337, 13197374], [13208484, 13208880], [13211384, 13211483], [13214508, 13214697], [13215778, 13215909], [13219573, 13219721], [13220088, 13220230], [13221237, 13221381], [13221563, 13221645], [13224174, 13224330], [13228959, 13229077], [13232722, 13232943], [13233558, 13233564]]
Promoter
Chrom Start End Description
chr12 13197282 13197293 CAGE_peak_2_at_KIAA1467_5end
chr12 13197307 13197339 CAGE_peak_1_at_KIAA1467_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I012990 12990438 12994399 1.44 [{'connected_gene': 'HTR7P1', 'score': 28.03}, {'connected_gene': 'ENSG00000255621', 'score': 14.37}, {'connected_gene': 'HEBP1', 'score': 7.71}, {'connected_gene': 'DUSP16', 'score': 6.5}, {'connected_gene': 'FAM234B', 'score': 5.42}, {'connected_gene': 'EMP1', 'score': 3.89}, {'connected_gene': 'GC12M012990', 'score': 0.44}, {'connected_gene': 'GC12P012980', 'score': 0.39}]
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 GH12I013043 13043807 13045201 1.93 [{'connected_gene': 'FAM234B', 'score': 571.23}, {'connected_gene': 'GC12P013050', 'score': 550.77}, {'connected_gene': 'ENSG00000255621', 'score': 11.43}, {'connected_gene': 'HTR7P1', 'score': 11.43}, {'connected_gene': 'HEBP1', 'score': 11.43}, {'connected_gene': 'EMP1', 'score': 10.43}, {'connected_gene': 'MIR614', 'score': 10.17}]
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 GH12I013806 13806792 13807080 0.22 [{'connected_gene': 'FAM234B', 'score': 4.84}, {'connected_gene': 'GRIN2B', 'score': 1.89}, {'connected_gene': 'GC12P013804', 'score': 0.77}, {'connected_gene': 'GC12P013812', 'score': 0.44}]
chr12 GH12I013046 13046001 13046399 0.31 [{'connected_gene': 'FAM234B', 'score': 571.48}, {'connected_gene': 'GC12P013050', 'score': 550.77}, {'connected_gene': 'GC12M013049', 'score': 0.44}]
chr12 GH12I012983 12983547 12983756 0.74 [{'connected_gene': 'DDX47', 'score': 13.25}, {'connected_gene': 'HEBP1', 'score': 11.61}, {'connected_gene': 'HTR7P1', 'score': 11.57}, {'connected_gene': 'MIR614', 'score': 10.87}, {'connected_gene': 'LOC100506248', 'score': 10.4}, {'connected_gene': 'EMP1', 'score': 9.5}, {'connected_gene': 'FAM234B', 'score': 5.83}, {'connected_gene': 'GC12P012980', 'score': 0.77}, {'connected_gene': 'GC12M012990', 'score': 0.39}, {'connected_gene': 'GPRC5D-AS1', 'score': 0.22}]
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 GH12I013029 13029327 13029456 0.31 [{'connected_gene': 'EMP1', 'score': 11.67}, {'connected_gene': 'ENSG00000255621', 'score': 11.35}, {'connected_gene': 'HTR7P1', 'score': 11.35}, {'connected_gene': 'HEBP1', 'score': 11.35}, {'connected_gene': 'MIR614', 'score': 11.26}, {'connected_gene': 'GPRC5D', 'score': 10.16}, {'connected_gene': 'RPS26P46', 'score': 0.44}, {'connected_gene': 'FAM234B', 'score': 0.39}]
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 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 GH12I013039 13039707 13039856 0.38 [{'connected_gene': 'ENSG00000255621', 'score': 11.44}, {'connected_gene': 'HTR7P1', 'score': 11.44}, {'connected_gene': 'HEBP1', 'score': 11.44}, {'connected_gene': 'EMP1', 'score': 10.43}, {'connected_gene': 'MIR614', 'score': 10.17}, {'connected_gene': 'FAM234B', 'score': 0.77}, {'connected_gene': 'RPS26P46', 'score': 0.37}]
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 GH12I013047 13046662 13047571 0.56 [{'connected_gene': 'GC12P013050', 'score': 550.77}, {'connected_gene': 'FAM234B', 'score': 20.35}, {'connected_gene': 'MIR614', 'score': 10.24}, {'connected_gene': 'HTR7P1', 'score': 5.53}, {'connected_gene': 'GC12M013049', 'score': 0.77}]
chr12 GH12I013053 13053707 13053836 0.56 [{'connected_gene': 'GC12P013052', 'score': 550.77}, {'connected_gene': 'FAM234B', 'score': 0.44}, {'connected_gene': 'PIR34161', 'score': 0.39}]
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 GH12I013124 13124685 13126161 0.81 [{'connected_gene': 'GC12P013128', 'score': 550.77}, {'connected_gene': 'PIR54575', 'score': 550.77}, {'connected_gene': 'GC12P013123', 'score': 550.77}, {'connected_gene': 'EMP1', 'score': 17.79}, {'connected_gene': 'MIR614', 'score': 10.18}, {'connected_gene': 'HTR7P1', 'score': 9.7}, {'connected_gene': 'HEBP1', 'score': 9.7}, {'connected_gene': 'ENSG00000255621', 'score': 9.69}, {'connected_gene': 'FAM234B', 'score': 0.18}]
chr12 GH12I013128 13127547 13127696 0.52 [{'connected_gene': 'GC12P013128', 'score': 550.77}, {'connected_gene': 'PIR54575', 'score': 550.77}, {'connected_gene': 'EMP1', 'score': 12.15}, {'connected_gene': 'MIR614', 'score': 10.18}, {'connected_gene': 'ENSG00000255621', 'score': 9.7}, {'connected_gene': 'HTR7P1', 'score': 9.7}, {'connected_gene': 'HEBP1', 'score': 9.7}, {'connected_gene': 'GC12M013129', 'score': 0.77}, {'connected_gene': 'FAM234B', 'score': 0.18}]

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