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
ENST00000481743 [[8095566, 8095741], [8097249, 8097516]] None
ENST00000379328 [[8096655, 8096854], [8097249, 8097859], [8100267, 8100804], [8105955, 8106101], [8111435, 8111561], [8115701, 8117161]] [[8097618, 8097859], [8100267, 8100804], [8105955, 8106101], [8111435, 8111561], [8115701, 8115986]]
ENST00000346208 [[8096768, 8096854], [8097249, 8097859], [8100267, 8100804], [8105958, 8106101], [8111435, 8111561], [8115701, 8116853]] [[8097618, 8097859], [8100267, 8100804], [8105958, 8106101], [8111435, 8111561], [8115701, 8115986]]
ENST00000461472 [[8100361, 8100804], [8111435, 8111561], [8115701, 8116027]] None
NM_002051 [[8096666, 8096854], [8097249, 8097859], [8100267, 8100804], [8105958, 8106101], [8111435, 8111561], [8115701, 8117164]] [[8097618, 8097859], [8100267, 8100804], [8105958, 8106101], [8111435, 8111561], [8115701, 8115986]]
NM_001002295 [[8096666, 8096854], [8097249, 8097859], [8100267, 8100804], [8105955, 8106101], [8111435, 8111561], [8115701, 8117164]] [[8097618, 8097859], [8100267, 8100804], [8105955, 8106101], [8111435, 8111561], [8115701, 8115986]]
Promoter
Chrom Start End Description
chr10 8095593 8095625 CAGE_peak_3_at_GATA3_5end
chr10 8096631 8096660 CAGE_peak_1_at_GATA3_5end
chr10 8096772 8096787 CAGE_peak_2_at_GATA3_5end
chr10 8097228 8097239 CAGE_peak_13_at_GATA3_5end
chr10 8097295 8097320 CAGE_peak_6_at_GATA3_5end
chr10 8097321 8097348 CAGE_peak_4_at_GATA3_5end
chr10 8097357 8097368 CAGE_peak_15_at_GATA3_5end
chr10 8097468 8097478 CAGE_peak_16_at_GATA3_5end
chr10 8097591 8097627 CAGE_peak_7_at_GATA3_5end
chr10 8100452 8100463 CAGE_peak_20_at_GATA3_5end
chr10 8100691 8100732 CAGE_peak_5_at_GATA3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I008052 8047717 8048183 0.86 [{'connected_gene': 'ITIH5', 'score': 1.42}, {'connected_gene': 'ENSG00000232638', 'score': 0.77}, {'connected_gene': 'GATA3', 'score': 0.77}, {'connected_gene': 'GC10M008036', 'score': 0.07}, {'connected_gene': 'GC10M008037', 'score': 0.07}]
chr10 GH10I008097 8097438 8098248 0.62 [{'connected_gene': 'GATA3-AS1', 'score': 11.44}, {'connected_gene': 'ENSG00000232638', 'score': 11.43}, {'connected_gene': 'GATA3', 'score': 11.41}, {'connected_gene': 'LOC105376395', 'score': 0.77}, {'connected_gene': 'GC10P008092', 'score': 0.44}, {'connected_gene': 'PRPF38AP1', 'score': 0.21}, {'connected_gene': 'GC10M008036', 'score': 0.09}, {'connected_gene': 'GC10M008037', 'score': 0.09}]
chr10 GH10I008077 8077462 8078557 0.38 [{'connected_gene': 'GATA3-AS1', 'score': 12.73}, {'connected_gene': 'ENSG00000232638', 'score': 12.7}, {'connected_gene': 'GATA3', 'score': 12.68}, {'connected_gene': 'GC10P008092', 'score': 0.39}, {'connected_gene': 'GC10M008036', 'score': 0.08}, {'connected_gene': 'GC10M008037', 'score': 0.08}]
chr10 GH10I008087 8087205 8088049 0.2 [{'connected_gene': 'GATA3-AS1', 'score': 12.43}, {'connected_gene': 'ENSG00000232638', 'score': 12.42}, {'connected_gene': 'GATA3', 'score': 12.4}, {'connected_gene': 'GC10P008092', 'score': 0.77}, {'connected_gene': 'GC10M008036', 'score': 0.08}, {'connected_gene': 'GC10M008037', 'score': 0.08}]
chr10 GH10I008086 8086113 8087115 0.31 [{'connected_gene': 'GATA3-AS1', 'score': 12.43}, {'connected_gene': 'ENSG00000232638', 'score': 12.42}, {'connected_gene': 'GATA3', 'score': 12.4}, {'connected_gene': 'GC10P008092', 'score': 0.44}, {'connected_gene': 'GC10M008036', 'score': 0.08}, {'connected_gene': 'GC10M008037', 'score': 0.08}]
chr10 GH10I008065 8065718 8065867 0.74 [{'connected_gene': 'GATA3-AS1', 'score': 0.39}, {'connected_gene': 'GATA3', 'score': 0.34}, {'connected_gene': 'GC10P008092', 'score': 0.31}, {'connected_gene': 'GC10M008036', 'score': 0.08}, {'connected_gene': 'GC10M008037', 'score': 0.08}]
chr10 GH10I008066 8066233 8067559 0.43 [{'connected_gene': 'GATA3-AS1', 'score': 0.39}, {'connected_gene': 'GATA3', 'score': 0.34}, {'connected_gene': 'GC10P008092', 'score': 0.31}, {'connected_gene': 'GC10M008036', 'score': 0.08}, {'connected_gene': 'GC10M008037', 'score': 0.08}]
chr10 GH10I008046 8046698 8047047 0.93 [{'connected_gene': 'GATA3', 'score': 552.33}, {'connected_gene': 'ITIH5', 'score': 2.07}, {'connected_gene': 'ENSG00000232638', 'score': 0.77}, {'connected_gene': 'GC10M008036', 'score': 0.07}, {'connected_gene': 'GC10M008037', 'score': 0.07}]
chr10 GH10I008137 8137201 8138000 0.55 [{'connected_gene': 'GATA3', 'score': 13.47}, {'connected_gene': 'GATA3-AS1', 'score': 11.57}, {'connected_gene': 'ENSG00000232638', 'score': 11.56}, {'connected_gene': 'TAF3', 'score': 8.19}, {'connected_gene': 'KIN', 'score': 1.2}, {'connected_gene': 'PRPF38AP1', 'score': 0.34}, {'connected_gene': 'LOC105376395', 'score': 0.26}, {'connected_gene': 'GC10P008092', 'score': 0.25}, {'connected_gene': 'GC10M008036', 'score': 0.11}, {'connected_gene': 'GC10M008037', 'score': 0.11}]
chr10 GH10I007928 7928256 7929246 0.46 [{'connected_gene': 'GATA3', 'score': 10.41}, {'connected_gene': 'ENSG00000232638', 'score': 10.41}, {'connected_gene': 'GATA3-AS1', 'score': 10.41}, {'connected_gene': 'GC10M007907', 'score': 0.39}, {'connected_gene': 'GC10P007984', 'score': 0.22}, {'connected_gene': 'TAF3', 'score': 0.14}]
chr10 GH10I008012 8012861 8013451 0.2 [{'connected_gene': 'GATA3', 'score': 11.01}, {'connected_gene': 'ENSG00000232638', 'score': 11.0}, {'connected_gene': 'GATA3-AS1', 'score': 10.98}, {'connected_gene': 'PIR35933', 'score': 0.34}, {'connected_gene': 'GC10P007984', 'score': 0.31}, {'connected_gene': 'TAF3', 'score': 0.08}]
chr10 GH10I008193 8193138 8194808 0.2 [{'connected_gene': 'GATA3', 'score': 11.13}, {'connected_gene': 'ENSG00000232638', 'score': 11.13}, {'connected_gene': 'GATA3-AS1', 'score': 11.13}, {'connected_gene': 'PRPF38AP1', 'score': 0.29}, {'connected_gene': 'LINC00708', 'score': 0.19}, {'connected_gene': 'GC10M008036', 'score': 0.17}, {'connected_gene': 'GC10M008037', 'score': 0.17}]
chr10 GH10I009009 9009738 9013270 0.47 [{'connected_gene': 'GATA3', 'score': 37.45}, {'connected_gene': 'GATA3-AS1', 'score': 8.13}, {'connected_gene': 'ENSG00000223808', 'score': 0.26}, {'connected_gene': 'LOC105376400', 'score': 0.23}]
chr10 GH10I008401 8401786 8406152 1.22 [{'connected_gene': 'GATA3', 'score': 13.08}, {'connected_gene': 'ENSG00000232638', 'score': 10.5}, {'connected_gene': 'GATA3-AS1', 'score': 10.5}, {'connected_gene': 'LOC105376396', 'score': 0.34}, {'connected_gene': 'LOC105376397', 'score': 0.23}]
chr10 GH10I008330 8330345 8333657 1.38 [{'connected_gene': 'GATA3', 'score': 14.66}, {'connected_gene': 'ENSG00000232638', 'score': 11.6}, {'connected_gene': 'GATA3-AS1', 'score': 11.6}, {'connected_gene': 'ENSG00000226861', 'score': 0.29}, {'connected_gene': 'LOC105376396', 'score': 0.23}]
chr10 GH10I008102 8102785 8104318 1.09 [{'connected_gene': 'GATA3', 'score': 13.95}, {'connected_gene': 'ENSG00000232638', 'score': 11.41}, {'connected_gene': 'GATA3-AS1', 'score': 11.41}, {'connected_gene': 'LOC105376395', 'score': 0.44}, {'connected_gene': 'GC10P008092', 'score': 0.39}, {'connected_gene': 'PRPF38AP1', 'score': 0.22}, {'connected_gene': 'GC10M008036', 'score': 0.1}, {'connected_gene': 'GC10M008037', 'score': 0.1}]
chr10 GH10I008069 8069511 8071766 0.72 [{'connected_gene': 'GATA3', 'score': 12.7}, {'connected_gene': 'GATA3-AS1', 'score': 0.37}, {'connected_gene': 'GC10P008092', 'score': 0.34}, {'connected_gene': 'GC10M008036', 'score': 0.08}, {'connected_gene': 'GC10M008037', 'score': 0.08}]
chr10 GH10I008049 8049034 8065063 2.51 [{'connected_gene': 'GATA3', 'score': 555.85}, {'connected_gene': 'KIN', 'score': 65.97}, {'connected_gene': 'TAF3', 'score': 17.89}, {'connected_gene': 'SFMBT2', 'score': 9.94}, {'connected_gene': 'GATA3-AS1', 'score': 0.77}, {'connected_gene': 'ENSG00000232638', 'score': 0.44}, {'connected_gene': 'GC10P008092', 'score': 0.28}, {'connected_gene': 'GC10M008036', 'score': 0.07}, {'connected_gene': 'GC10M008037', 'score': 0.07}]
chr10 GH10I008043 8043638 8043787 0.49 [{'connected_gene': 'GATA3', 'score': 550.77}, {'connected_gene': 'KIN', 'score': 18.68}, {'connected_gene': 'GC10P008041', 'score': 0.77}, {'connected_gene': 'GC10M008036', 'score': 0.07}, {'connected_gene': 'GC10M008037', 'score': 0.07}]
chr10 GH10I008415 8415568 8417885 1.26 [{'connected_gene': 'GATA3', 'score': 2.02}, {'connected_gene': 'LOC105376396', 'score': 0.29}, {'connected_gene': 'LOC105376397', 'score': 0.28}]
chr10 GH10I008406 8406550 8408812 1.08 [{'connected_gene': 'GATA3', 'score': 2.57}, {'connected_gene': 'LOC105376396', 'score': 0.31}, {'connected_gene': 'LOC105376397', 'score': 0.25}]
chr10 GH10I008641 8639763 8640480 0.2 [{'connected_gene': 'GATA3', 'score': 6.28}, {'connected_gene': 'GC10M008656', 'score': 0.37}, {'connected_gene': 'RNA5SP299', 'score': 0.37}, {'connected_gene': 'CHCHD3P1', 'score': 0.34}]
chr10 GH10I008048 8047258 8047407 0.38 [{'connected_gene': 'GATA3', 'score': 550.77}, {'connected_gene': 'ENSG00000232638', 'score': 0.77}, {'connected_gene': 'GC10M008036', 'score': 0.07}, {'connected_gene': 'GC10M008037', 'score': 0.07}]
chr10 GH10I008050 8046218 8046387 0.63 [{'connected_gene': 'GATA3', 'score': 550.77}, {'connected_gene': 'ENSG00000232638', 'score': 0.44}, {'connected_gene': 'GC10M008036', 'score': 0.07}, {'connected_gene': 'GC10M008037', 'score': 0.07}]
chr10 GH10I008045 8045001 8046007 1.11 [{'connected_gene': 'GATA3', 'score': 550.77}, {'connected_gene': 'ENSG00000232638', 'score': 0.44}, {'connected_gene': 'GC10M008036', 'score': 0.07}, {'connected_gene': 'GC10M008037', 'score': 0.07}]
chr10 GH10I008047 8046438 8046587 0.72 [{'connected_gene': 'GATA3', 'score': 550.77}, {'connected_gene': 'ENSG00000232638', 'score': 0.44}, {'connected_gene': 'GC10M008036', 'score': 0.07}, {'connected_gene': 'GC10M008037', 'score': 0.07}]
chr10 GH10I008080 8080520 8083029 0.49 [{'connected_gene': 'KIN', 'score': 21.45}, {'connected_gene': 'GATA3-AS1', 'score': 12.45}, {'connected_gene': 'ENSG00000232638', 'score': 12.43}, {'connected_gene': 'GATA3', 'score': 12.42}, {'connected_gene': 'GC10P008092', 'score': 0.39}, {'connected_gene': 'GC10M008036', 'score': 0.08}, {'connected_gene': 'GC10M008037', 'score': 0.08}]
chr10 GH10I008543 8543612 8545111 0.75 [{'connected_gene': 'KRT8P16', 'score': 550.77}, {'connected_gene': 'GATA3', 'score': 8.72}, {'connected_gene': 'LOC105376399', 'score': 0.39}, {'connected_gene': 'LOC105376398', 'score': 0.23}]
chr10 GH10I008434 8434933 8436185 0.31 [{'connected_gene': 'ENSG00000232638', 'score': 11.81}, {'connected_gene': 'GATA3-AS1', 'score': 11.81}, {'connected_gene': 'GATA3', 'score': 11.81}, {'connected_gene': 'LOC105376397', 'score': 0.37}, {'connected_gene': 'LOC105376396', 'score': 0.23}]
chr10 GH10I008100 8100098 8100842 0.2 [{'connected_gene': 'ENSG00000232638', 'score': 11.43}, {'connected_gene': 'GATA3-AS1', 'score': 11.43}, {'connected_gene': 'GATA3', 'score': 11.4}, {'connected_gene': 'LOC105376395', 'score': 0.44}, {'connected_gene': 'GC10P008092', 'score': 0.44}, {'connected_gene': 'PRPF38AP1', 'score': 0.21}, {'connected_gene': 'GC10M008036', 'score': 0.09}, {'connected_gene': 'GC10M008037', 'score': 0.09}]
chr10 GH10I008083 8083185 8084414 0.46 [{'connected_gene': 'ENSG00000232638', 'score': 12.43}, {'connected_gene': 'GATA3-AS1', 'score': 12.43}, {'connected_gene': 'GATA3', 'score': 12.42}, {'connected_gene': 'GC10P008092', 'score': 0.44}, {'connected_gene': 'GC10M008036', 'score': 0.08}, {'connected_gene': 'GC10M008037', 'score': 0.08}]
chr10 GH10I008088 8088206 8089061 0.38 [{'connected_gene': 'ENSG00000232638', 'score': 12.42}, {'connected_gene': 'GATA3-AS1', 'score': 12.42}, {'connected_gene': 'GATA3', 'score': 12.4}, {'connected_gene': 'GC10P008092', 'score': 0.77}, {'connected_gene': 'GC10M008036', 'score': 0.08}, {'connected_gene': 'GC10M008037', 'score': 0.08}]
chr10 GH10I008084 8084525 8085995 0.69 [{'connected_gene': 'ENSG00000232638', 'score': 12.43}, {'connected_gene': 'GATA3-AS1', 'score': 12.43}, {'connected_gene': 'GATA3', 'score': 12.42}, {'connected_gene': 'GC10P008092', 'score': 0.44}, {'connected_gene': 'GC10M008036', 'score': 0.08}, {'connected_gene': 'GC10M008037', 'score': 0.08}]
chr10 GH10I008079 8079618 8079767 0.58 [{'connected_gene': 'ENSG00000232638', 'score': 11.78}, {'connected_gene': 'GATA3-AS1', 'score': 11.78}, {'connected_gene': 'GATA3', 'score': 11.77}, {'connected_gene': 'GC10P008092', 'score': 0.39}, {'connected_gene': 'GC10M008036', 'score': 0.08}, {'connected_gene': 'GC10M008037', 'score': 0.08}]
chr10 GH10I008074 8074969 8076631 0.79 [{'connected_gene': 'ENSG00000232638', 'score': 12.73}, {'connected_gene': 'GATA3-AS1', 'score': 12.73}, {'connected_gene': 'GATA3', 'score': 12.68}, {'connected_gene': 'GC10P008092', 'score': 0.37}, {'connected_gene': 'GC10M008036', 'score': 0.08}, {'connected_gene': 'GC10M008037', 'score': 0.08}]
chr10 GH10I008081 8079838 8079987 0.58 [{'connected_gene': 'ENSG00000232638', 'score': 11.78}, {'connected_gene': 'GATA3-AS1', 'score': 11.78}, {'connected_gene': 'GATA3', 'score': 11.77}, {'connected_gene': 'GC10P008092', 'score': 0.39}, {'connected_gene': 'GC10M008036', 'score': 0.08}, {'connected_gene': 'GC10M008037', 'score': 0.08}]
chr10 GH10I008071 8071876 8073014 0.31 [{'connected_gene': 'ENSG00000232638', 'score': 12.73}, {'connected_gene': 'GATA3', 'score': 12.7}, {'connected_gene': 'GATA3-AS1', 'score': 0.37}, {'connected_gene': 'GC10P008092', 'score': 0.37}, {'connected_gene': 'GC10M008036', 'score': 0.08}, {'connected_gene': 'GC10M008037', 'score': 0.08}]
chr10 GH10I008073 8073163 8073557 0.51 [{'connected_gene': 'ENSG00000232638', 'score': 12.73}, {'connected_gene': 'GATA3', 'score': 12.7}, {'connected_gene': 'GATA3-AS1', 'score': 0.37}, {'connected_gene': 'GC10P008092', 'score': 0.37}, {'connected_gene': 'GC10M008036', 'score': 0.08}, {'connected_gene': 'GC10M008037', 'score': 0.08}]
chr10 GH10I008040 8040690 8040978 0.58 [{'connected_gene': 'GC10P008041', 'score': 550.77}, {'connected_gene': 'GATA3', 'score': 0.77}, {'connected_gene': 'LOC105376394', 'score': 0.44}, {'connected_gene': 'GC10M008036', 'score': 0.07}, {'connected_gene': 'GC10M008037', 'score': 0.07}]
chr10 GH10I008051 8048738 8048887 0.74 [{'connected_gene': 'ENSG00000232638', 'score': 0.77}, {'connected_gene': 'GATA3', 'score': 0.77}, {'connected_gene': 'GC10M008036', 'score': 0.07}, {'connected_gene': 'GC10M008037', 'score': 0.07}]

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