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
ENST00000264474 [[122044090, 122044205], [122056393, 122056495], [122060285, 122060819]] [[122044139, 122044205], [122056393, 122056495], [122060285, 122060414]]
ENST00000479204 [[122044108, 122044205], [122056393, 122057117]] [[122044139, 122044205], [122056393, 122056519]]
NM_005213 [[122044010, 122044205], [122056393, 122056495], [122060285, 122060816]] [[122044139, 122044205], [122056393, 122056495], [122060285, 122060414]]
Promoter
Chrom Start End Description
chr3 122044084 122044106 CAGE_peak_1_at_CSTA_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I122002 122002601 122005524 1.31 [{'connected_gene': 'IQCB1', 'score': 20.59}, {'connected_gene': 'SLC15A2', 'score': 14.73}, {'connected_gene': 'CD86', 'score': 13.94}, {'connected_gene': 'ENSG00000202388', 'score': 13.28}, {'connected_gene': 'ILDR1', 'score': 13.16}, {'connected_gene': 'CSTA', 'score': 1.54}, {'connected_gene': 'EAF2', 'score': 1.53}, {'connected_gene': 'HCLS1', 'score': 1.53}, {'connected_gene': 'LOC101927010', 'score': 0.37}, {'connected_gene': 'GC03M121324', 'score': 0.28}]
chr3 GH03I121994 121994028 121996283 1.21 [{'connected_gene': 'IQCB1', 'score': 21.22}, {'connected_gene': 'SLC15A2', 'score': 17.81}, {'connected_gene': 'EAF2', 'score': 12.82}, {'connected_gene': 'CD86', 'score': 10.88}, {'connected_gene': 'HCLS1', 'score': 1.43}, {'connected_gene': 'CSTA', 'score': 1.32}, {'connected_gene': 'LOC101927010', 'score': 0.44}, {'connected_gene': 'ENSG00000202388', 'score': 0.29}, {'connected_gene': 'GC03M121324', 'score': 0.26}, {'connected_gene': 'ILDR1', 'score': 0.2}]
chr3 GH03I121802 121802958 121805262 0.38 [{'connected_gene': 'IQCB1', 'score': 39.08}, {'connected_gene': 'EAF2', 'score': 11.25}, {'connected_gene': 'SLC15A2', 'score': 9.53}, {'connected_gene': 'CSTA', 'score': 4.05}, {'connected_gene': 'GOLGB1', 'score': 0.23}, {'connected_gene': 'GC03M121324', 'score': 0.07}]
chr3 GH03I121957 121957777 121958200 1.04 [{'connected_gene': 'CD86', 'score': 13.08}, {'connected_gene': 'IQCB1', 'score': 11.47}, {'connected_gene': 'HCLS1', 'score': 2.53}, {'connected_gene': 'EAF2', 'score': 1.57}, {'connected_gene': 'CSTA', 'score': 1.21}, {'connected_gene': 'GC03P121966', 'score': 0.44}, {'connected_gene': 'SLC15A2', 'score': 0.21}, {'connected_gene': 'GC03M121324', 'score': 0.18}]
chr3 GH03I122053 122053081 122053250 0.61 [{'connected_gene': 'CD86', 'score': 8.47}, {'connected_gene': 'HCLS1', 'score': 1.79}, {'connected_gene': 'EAF2', 'score': 1.6}, {'connected_gene': 'CSTA', 'score': 1.3}, {'connected_gene': 'ILDR1', 'score': 0.44}, {'connected_gene': 'GC03M121324', 'score': 0.39}]
chr3 GH03I122073 122073889 122080970 2.01 [{'connected_gene': 'CD86', 'score': 562.73}, {'connected_gene': 'ENSG00000202388', 'score': 12.36}, {'connected_gene': 'DTX3L', 'score': 10.76}, {'connected_gene': 'PARP9', 'score': 10.42}, {'connected_gene': 'CCDC58', 'score': 9.91}, {'connected_gene': 'FAM162A', 'score': 9.91}, {'connected_gene': 'IQCB1', 'score': 5.91}, {'connected_gene': 'EAF2', 'score': 1.77}, {'connected_gene': 'CSTA', 'score': 1.68}, {'connected_gene': 'HCLS1', 'score': 1.65}, {'connected_gene': 'ILDR1', 'score': 0.37}, {'connected_gene': 'CASR', 'score': 0.14}]
chr3 GH03I122797 122797371 122797589 0.45 [{'connected_gene': 'DIRC2', 'score': 11.83}, {'connected_gene': 'HSPBAP1', 'score': 10.39}, {'connected_gene': 'PARP14', 'score': 6.47}, {'connected_gene': 'PARP9', 'score': 5.4}, {'connected_gene': 'DTX3L', 'score': 5.33}, {'connected_gene': 'CSTA', 'score': 3.05}, {'connected_gene': 'KPNA1', 'score': 1.5}, {'connected_gene': 'GC03P122849', 'score': 0.23}]
chr3 GH03I122766 122766442 122770200 1.02 [{'connected_gene': 'DIRC2', 'score': 50.68}, {'connected_gene': 'HSPBAP1', 'score': 42.84}, {'connected_gene': 'PARP14', 'score': 31.06}, {'connected_gene': 'PARP9', 'score': 10.84}, {'connected_gene': 'DTX3L', 'score': 10.42}, {'connected_gene': 'LINC02035', 'score': 9.09}, {'connected_gene': 'CSTA', 'score': 3.95}, {'connected_gene': 'KPNA1', 'score': 3.36}]
chr3 GH03I122232 122232394 122234400 1.23 [{'connected_gene': 'CASR', 'score': 11.19}, {'connected_gene': 'IQCB1', 'score': 4.58}, {'connected_gene': 'CD86', 'score': 4.01}, {'connected_gene': 'PARP14', 'score': 2.92}, {'connected_gene': 'PARP9', 'score': 2.4}, {'connected_gene': 'DTX3L', 'score': 1.97}, {'connected_gene': 'KPNA1', 'score': 1.85}, {'connected_gene': 'GOLGB1', 'score': 1.81}, {'connected_gene': 'CSTA', 'score': 1.65}, {'connected_gene': 'HNRNPA1P23', 'score': 0.18}]
chr3 GH03I122245 122245528 122248308 1.08 [{'connected_gene': 'CASR', 'score': 10.77}, {'connected_gene': 'PARP14', 'score': 6.64}, {'connected_gene': 'PARP9', 'score': 5.19}, {'connected_gene': 'IQCB1', 'score': 4.61}, {'connected_gene': 'HSPBAP1', 'score': 4.52}, {'connected_gene': 'CD86', 'score': 4.16}, {'connected_gene': 'DTX3L', 'score': 3.63}, {'connected_gene': 'KPNA1', 'score': 3.14}, {'connected_gene': 'CSTA', 'score': 2.94}, {'connected_gene': 'GOLGB1', 'score': 1.44}, {'connected_gene': 'EAF2', 'score': 1.11}, {'connected_gene': 'HNRNPA1P23', 'score': 0.19}]
chr3 GH03I122184 122184335 122184394 0.68 [{'connected_gene': 'CASR', 'score': 550.77}, {'connected_gene': 'CSTA', 'score': 10.56}, {'connected_gene': 'IQCB1', 'score': 5.73}, {'connected_gene': 'HNRNPA1P23', 'score': 0.12}]
chr3 GH03I122099 122099167 122101418 1.1 [{'connected_gene': 'PARP9', 'score': 9.36}, {'connected_gene': 'DTX3L', 'score': 9.25}, {'connected_gene': 'CD86', 'score': 7.24}, {'connected_gene': 'HCLS1', 'score': 2.8}, {'connected_gene': 'CSTA', 'score': 2.12}, {'connected_gene': 'EAF2', 'score': 1.97}, {'connected_gene': 'ILDR1', 'score': 0.28}, {'connected_gene': 'CASR', 'score': 0.18}]
chr3 GH03I121997 121997402 121999599 1.28 [{'connected_gene': 'SLC15A2', 'score': 13.72}, {'connected_gene': 'CD86', 'score': 13.51}, {'connected_gene': 'EAF2', 'score': 11.77}, {'connected_gene': 'ENSG00000202388', 'score': 11.74}, {'connected_gene': 'ILDR1', 'score': 11.64}, {'connected_gene': 'IQCB1', 'score': 10.46}, {'connected_gene': 'CSTA', 'score': 1.56}, {'connected_gene': 'HCLS1', 'score': 1.45}, {'connected_gene': 'LOC101927010', 'score': 0.39}, {'connected_gene': 'GC03M121324', 'score': 0.26}]
chr3 GH03I121919 121919202 121919399 0.54 [{'connected_gene': 'SLC15A2', 'score': 18.23}, {'connected_gene': 'CSTA', 'score': 2.72}, {'connected_gene': 'ILDR1', 'score': 1.78}, {'connected_gene': 'GC03P121966', 'score': 0.25}, {'connected_gene': 'GC03M121324', 'score': 0.13}]
chr3 GH03I122770 122770401 122770912 0.68 [{'connected_gene': 'PARP14', 'score': 22.63}, {'connected_gene': 'DIRC2', 'score': 16.31}, {'connected_gene': 'HSPBAP1', 'score': 15.29}, {'connected_gene': 'PARP9', 'score': 6.36}, {'connected_gene': 'DTX3L', 'score': 6.22}, {'connected_gene': 'CSTA', 'score': 3.36}, {'connected_gene': 'KPNA1', 'score': 1.51}]
chr3 GH03I122773 122773247 122775034 1.36 [{'connected_gene': 'PARP14', 'score': 18.67}, {'connected_gene': 'HSPBAP1', 'score': 13.22}, {'connected_gene': 'DTX3L', 'score': 11.67}, {'connected_gene': 'PARP9', 'score': 10.13}, {'connected_gene': 'DIRC2', 'score': 9.87}, {'connected_gene': 'CSTA', 'score': 3.04}, {'connected_gene': 'KPNA1', 'score': 1.87}]
chr3 GH03I122678 122678325 122684270 2.66 [{'connected_gene': 'PARP14', 'score': 574.37}, {'connected_gene': 'DTX3L', 'score': 18.81}, {'connected_gene': 'PARP9', 'score': 14.59}, {'connected_gene': 'HSPBAP1', 'score': 9.8}, {'connected_gene': 'DIRC2', 'score': 8.06}, {'connected_gene': 'LINC02035', 'score': 5.29}, {'connected_gene': 'CSTA', 'score': 3.1}, {'connected_gene': 'KPNA1', 'score': 1.46}]
chr3 GH03I121574 121574574 121574683 0.8 [{'connected_gene': 'POLQ', 'score': 12.25}, {'connected_gene': 'CSTA', 'score': 10.45}, {'connected_gene': 'ARGFX', 'score': 0.39}, {'connected_gene': 'FBXO40', 'score': 0.37}, {'connected_gene': 'GC03M121324', 'score': 0.04}]
chr3 GH03I122082 122081922 122083176 0.59 [{'connected_gene': 'ILDR1', 'score': 11.46}, {'connected_gene': 'ENSG00000202388', 'score': 11.34}, {'connected_gene': 'CSTA', 'score': 10.63}, {'connected_gene': 'CCDC58', 'score': 9.82}, {'connected_gene': 'FAM162A', 'score': 9.82}, {'connected_gene': 'IQCB1', 'score': 6.35}, {'connected_gene': 'CD86', 'score': 0.31}, {'connected_gene': 'CASR', 'score': 0.15}]
chr3 GH03I122081 122081622 122081833 0.98 [{'connected_gene': 'ILDR1', 'score': 11.46}, {'connected_gene': 'ENSG00000202388', 'score': 11.34}, {'connected_gene': 'CSTA', 'score': 10.63}, {'connected_gene': 'CCDC58', 'score': 9.82}, {'connected_gene': 'FAM162A', 'score': 9.82}, {'connected_gene': 'CD86', 'score': 8.63}, {'connected_gene': 'EAF2', 'score': 2.54}, {'connected_gene': 'CASR', 'score': 0.15}]
chr3 GH03I122111 122111043 122112274 0.46 [{'connected_gene': 'CSTA', 'score': 11.15}, {'connected_gene': 'CASR', 'score': 11.01}, {'connected_gene': 'POLQ', 'score': 10.32}, {'connected_gene': 'RPL7AP11', 'score': 3.82}, {'connected_gene': 'ILDR1', 'score': 0.23}, {'connected_gene': 'CD86', 'score': 0.22}]
chr3 GH03I122313 122313907 122315436 0.88 [{'connected_gene': 'CSTA', 'score': 13.43}, {'connected_gene': 'WDR5B', 'score': 12.2}, {'connected_gene': 'CCDC58', 'score': 10.74}, {'connected_gene': 'FAM162A', 'score': 10.74}, {'connected_gene': 'PARP14', 'score': 9.79}, {'connected_gene': 'PARP9', 'score': 4.02}, {'connected_gene': 'DTX3L', 'score': 4.0}, {'connected_gene': 'DIRC2', 'score': 2.41}, {'connected_gene': 'CD86', 'score': 1.85}, {'connected_gene': 'KPNA1', 'score': 1.46}, {'connected_gene': 'HSPBAP1', 'score': 1.36}, {'connected_gene': 'HNRNPA1P23', 'score': 0.77}, {'connected_gene': 'CASR', 'score': 0.12}]
chr3 GH03I122294 122294401 122295800 0.96 [{'connected_gene': 'CSTA', 'score': 13.0}, {'connected_gene': 'WDR5B', 'score': 9.62}, {'connected_gene': 'LOC102723582', 'score': 8.48}, {'connected_gene': 'PARP14', 'score': 4.34}, {'connected_gene': 'PARP9', 'score': 2.72}, {'connected_gene': 'CD86', 'score': 2.61}, {'connected_gene': 'DIRC2', 'score': 2.57}, {'connected_gene': 'DTX3L', 'score': 2.46}, {'connected_gene': 'HSPBAP1', 'score': 1.96}, {'connected_gene': 'HNRNPA1P23', 'score': 0.34}, {'connected_gene': 'CASR', 'score': 0.14}]
chr3 GH03I122310 122310483 122311616 0.38 [{'connected_gene': 'CSTA', 'score': 11.75}, {'connected_gene': 'WDR5B', 'score': 6.38}, {'connected_gene': 'HNRNPA1P23', 'score': 0.44}, {'connected_gene': 'CASR', 'score': 0.13}]
chr3 GH03I122271 122271401 122271600 0.67 [{'connected_gene': 'CSTA', 'score': 10.73}, {'connected_gene': 'FAM162A', 'score': 10.29}, {'connected_gene': 'CCDC58', 'score': 10.29}, {'connected_gene': 'LOC102723582', 'score': 6.49}, {'connected_gene': 'HNRNPA1P23', 'score': 0.25}, {'connected_gene': 'CASR', 'score': 0.17}]
chr3 GH03I122356 122356142 122356153 0.35 [{'connected_gene': 'CSTA', 'score': 11.94}, {'connected_gene': 'FAM162A', 'score': 11.61}, {'connected_gene': 'CCDC58', 'score': 11.61}]
chr3 GH03I122314 122313429 122313581 0.42 [{'connected_gene': 'CSTA', 'score': 13.04}, {'connected_gene': 'CCDC58', 'score': 10.74}, {'connected_gene': 'FAM162A', 'score': 10.73}, {'connected_gene': 'PARP14', 'score': 8.53}, {'connected_gene': 'PARP9', 'score': 3.36}, {'connected_gene': 'DTX3L', 'score': 3.23}, {'connected_gene': 'DIRC2', 'score': 1.27}, {'connected_gene': 'KPNA1', 'score': 1.19}, {'connected_gene': 'HNRNPA1P23', 'score': 0.77}, {'connected_gene': 'CASR', 'score': 0.13}]
chr3 GH03I122268 122268783 122268872 0.68 [{'connected_gene': 'CSTA', 'score': 10.72}, {'connected_gene': 'CCDC58', 'score': 10.29}, {'connected_gene': 'FAM162A', 'score': 10.29}, {'connected_gene': 'WDR5B', 'score': 4.7}, {'connected_gene': 'CD86', 'score': 4.23}, {'connected_gene': 'HNRNPA1P23', 'score': 0.25}, {'connected_gene': 'CASR', 'score': 0.17}]
chr3 GH03I122326 122326546 122327250 0.2 [{'connected_gene': 'CSTA', 'score': 550.77}, {'connected_gene': 'CCDC58', 'score': 0.22}]
chr3 GH03I122328 122328360 122328965 0.46 [{'connected_gene': 'CSTA', 'score': 0.77}, {'connected_gene': 'CCDC58', 'score': 0.23}]
chr3 GH03I122327 122327853 122328325 0.2 [{'connected_gene': 'CSTA', 'score': 0.77}, {'connected_gene': 'CCDC58', 'score': 0.22}]
chr3 GH03I122324 122324484 122326190 1.92 [{'connected_gene': 'CSTA', 'score': 550.77}, {'connected_gene': 'LOC102723582', 'score': 11.48}, {'connected_gene': 'CCDC58', 'score': 0.22}]
chr3 GH03I122322 122322085 122323183 1.09 [{'connected_gene': 'LOC102723582', 'score': 5.1}, {'connected_gene': 'PARP14', 'score': 4.6}, {'connected_gene': 'CSTA', 'score': 2.49}, {'connected_gene': 'PARP9', 'score': 1.94}, {'connected_gene': 'DTX3L', 'score': 1.59}, {'connected_gene': 'CD86', 'score': 1.5}, {'connected_gene': 'HNRNPA1P23', 'score': 0.44}]
chr3 GH03I122362 122362745 122367331 1 [{'connected_gene': 'LOC102723582', 'score': 43.95}, {'connected_gene': 'GOLGB1', 'score': 42.66}, {'connected_gene': 'IQCB1', 'score': 39.29}, {'connected_gene': 'SEC22A', 'score': 37.89}, {'connected_gene': 'WDR5B', 'score': 12.84}, {'connected_gene': 'CSTA', 'score': 11.92}, {'connected_gene': 'RPL7AP11', 'score': 9.74}, {'connected_gene': 'CASR', 'score': 9.3}, {'connected_gene': 'CCDC58', 'score': 0.37}]
chr3 GH03I122331 122331138 122333135 0.2 [{'connected_gene': 'LOC102723582', 'score': 11.43}, {'connected_gene': 'CSTA', 'score': 0.44}, {'connected_gene': 'CCDC58', 'score': 0.23}]
chr3 GH03I122317 122317543 122317924 0.2 [{'connected_gene': 'HNRNPA1P23', 'score': 550.77}, {'connected_gene': 'CSTA', 'score': 0.44}]
chr3 GH03I122318 122318011 122318965 0.31 [{'connected_gene': 'HNRNPA1P23', 'score': 550.77}, {'connected_gene': 'LOC102723582', 'score': 6.56}, {'connected_gene': 'CSTA', 'score': 0.44}]
chr3 GH03I122063 122063514 122064859 1.04 [{'connected_gene': 'ENSG00000202388', 'score': 11.81}, {'connected_gene': 'CD86', 'score': 10.77}, {'connected_gene': 'IQCB1', 'score': 6.46}, {'connected_gene': 'DTX3L', 'score': 4.13}, {'connected_gene': 'PARP9', 'score': 4.06}, {'connected_gene': 'HCLS1', 'score': 2.28}, {'connected_gene': 'EAF2', 'score': 2.15}, {'connected_gene': 'CSTA', 'score': 1.7}, {'connected_gene': 'ILDR1', 'score': 0.77}, {'connected_gene': 'CASR', 'score': 0.13}]

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