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
ENST00000314393 [[123793632, 123794185], [123875715, 123875778], [123963531, 123966268], [123985481, 123986750]] [[123963750, 123966264]]
ENST00000534247 [[123875623, 123875778], [123963531, 123964249]] [[123963750, 123964249]]
NM_014943 [[123793900, 123794185], [123875715, 123875778], [123963531, 123966268], [123985481, 123986755]] [[123963750, 123966264]]
Promoter
Chrom Start End Description
chr8 123793234 123793246 CAGE_peak_18_at_ZHX2_5end
chr8 123793252 123793266 CAGE_peak_10_at_ZHX2_5end
chr8 123793273 123793285 CAGE_peak_19_at_ZHX2_5end
chr8 123793536 123793548 CAGE_peak_13_at_ZHX2_5end
chr8 123793688 123793703 CAGE_peak_12_at_ZHX2_5end
chr8 123793708 123793723 CAGE_peak_6_at_ZHX2_5end
chr8 123793860 123793921 CAGE_peak_2_at_ZHX2_5end
chr8 123793959 123793977 CAGE_peak_4_at_ZHX2_5end
chr8 123793988 123794016 CAGE_peak_1_at_ZHX2_5end
chr8 123794030 123794037 CAGE_peak_14_at_ZHX2_5end
chr8 123794038 123794056 CAGE_peak_5_at_ZHX2_5end
chr8 123794102 123794160 CAGE_peak_3_at_ZHX2_5end
chr8 123875131 123875140 CAGE_peak_25_at_ZHX2_5end
chr8 123875147 123875159 CAGE_peak_26_at_ZHX2_5end
chr8 123875175 123875188 CAGE_peak_22_at_ZHX2_5end
chr8 123875520 123875536 CAGE_peak_7_at_ZHX2_5end
chr8 123875589 123875604 CAGE_peak_24_at_ZHX2_5end
chr8 123875629 123875640 CAGE_peak_21_at_ZHX2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I122916 122916743 122919922 1.05 [{'connected_gene': 'C8orf76', 'score': 5.55}, {'connected_gene': 'GC08P122905', 'score': 0.39}, {'connected_gene': 'PIR45357', 'score': 0.39}, {'connected_gene': 'ZHX2', 'score': 0.12}]
chr8 GH08I122987 122987623 122989600 0.76 [{'connected_gene': 'DERL1', 'score': 10.55}, {'connected_gene': 'TBC1D31', 'score': 10.55}, {'connected_gene': 'ZHX2', 'score': 10.02}, {'connected_gene': 'ENSG00000238901', 'score': 9.92}, {'connected_gene': 'FAM83A-AS1', 'score': 9.39}, {'connected_gene': 'ENSG00000259631', 'score': 0.77}, {'connected_gene': 'ENSG00000253607', 'score': 0.39}]
chr8 GH08I123012 123012494 123013038 0.46 [{'connected_gene': 'DERL1', 'score': 19.84}, {'connected_gene': 'TBC1D31', 'score': 11.35}, {'connected_gene': 'ZHX2', 'score': 10.63}, {'connected_gene': 'ENSG00000238901', 'score': 10.21}, {'connected_gene': 'FAM83A-AS1', 'score': 8.84}, {'connected_gene': 'ENSG00000253607', 'score': 0.39}]
chr8 GH08I123017 123017621 123017770 0.2 [{'connected_gene': 'DERL1', 'score': 11.38}, {'connected_gene': 'TBC1D31', 'score': 11.38}, {'connected_gene': 'ZHX2', 'score': 10.63}, {'connected_gene': 'ENSG00000238901', 'score': 10.22}, {'connected_gene': 'FAM83A-AS1', 'score': 8.84}, {'connected_gene': 'ENSG00000253607', 'score': 0.37}]
chr8 GH08I122994 122994151 122995877 1.02 [{'connected_gene': 'DERL1', 'score': 10.09}, {'connected_gene': 'TBC1D31', 'score': 10.09}, {'connected_gene': 'ZHX2', 'score': 10.02}, {'connected_gene': 'ENSG00000259631', 'score': 0.44}, {'connected_gene': 'ENSG00000253607', 'score': 0.44}]
chr8 GH08I122816 122816397 122821662 1.06 [{'connected_gene': 'DERL1', 'score': 15.24}, {'connected_gene': 'FAM91A1', 'score': 12.74}, {'connected_gene': 'ZHX2', 'score': 11.62}, {'connected_gene': 'C8orf76', 'score': 10.91}, {'connected_gene': 'ENSG00000238901', 'score': 10.48}, {'connected_gene': 'ENSG00000253607', 'score': 9.92}, {'connected_gene': 'FAM83A-AS1', 'score': 9.74}, {'connected_gene': 'ENSG00000253372', 'score': 0.39}, {'connected_gene': 'GC08P122905', 'score': 0.17}]
chr8 GH08I122821 122821731 122828007 0.52 [{'connected_gene': 'DERL1', 'score': 15.24}, {'connected_gene': 'FAM91A1', 'score': 12.74}, {'connected_gene': 'ZHX2', 'score': 12.24}, {'connected_gene': 'C8orf76', 'score': 10.91}, {'connected_gene': 'ENSG00000238901', 'score': 10.48}, {'connected_gene': 'ENSG00000253607', 'score': 10.44}, {'connected_gene': 'FAM83A-AS1', 'score': 9.74}, {'connected_gene': 'ENSG00000253372', 'score': 0.37}, {'connected_gene': 'GC08P122905', 'score': 0.18}]
chr8 GH08I122862 122862035 122863634 0.86 [{'connected_gene': 'FER1L6', 'score': 4.37}, {'connected_gene': 'GC08P122905', 'score': 0.26}, {'connected_gene': 'ENSG00000253372', 'score': 0.22}, {'connected_gene': 'ZHX2', 'score': 0.18}]
chr8 GH08I122779 122779714 122784151 2.54 [{'connected_gene': 'ZHX2', 'score': 565.41}, {'connected_gene': 'ENSG00000272384', 'score': 550.77}, {'connected_gene': 'ENSG00000272043', 'score': 550.77}, {'connected_gene': 'DERL1', 'score': 10.78}, {'connected_gene': 'TBC1D31', 'score': 10.78}, {'connected_gene': 'C8orf76', 'score': 1.41}, {'connected_gene': 'PIR52073', 'score': 0.37}]
chr8 GH08I122759 122759594 122761024 1.13 [{'connected_gene': 'ZHX2', 'score': 11.86}, {'connected_gene': 'ENSG00000253607', 'score': 10.54}, {'connected_gene': 'DERL1', 'score': 10.28}, {'connected_gene': 'TBC1D31', 'score': 10.28}, {'connected_gene': 'ENSG00000238901', 'score': 10.13}, {'connected_gene': 'FAM83A-AS1', 'score': 9.2}, {'connected_gene': 'CDK5P1', 'score': 0.44}, {'connected_gene': 'GC08M122743', 'score': 0.39}]
chr8 GH08I122758 122757182 122757351 0.93 [{'connected_gene': 'ZHX2', 'score': 11.86}, {'connected_gene': 'DERL1', 'score': 10.28}, {'connected_gene': 'TBC1D31', 'score': 10.28}, {'connected_gene': 'ENSG00000253607', 'score': 10.07}, {'connected_gene': 'FAM83A-AS1', 'score': 9.21}, {'connected_gene': 'GC08M122743', 'score': 0.39}, {'connected_gene': 'CDK5P1', 'score': 0.39}]
chr8 GH08I122757 122757886 122759377 0.83 [{'connected_gene': 'ZHX2', 'score': 11.86}, {'connected_gene': 'DERL1', 'score': 10.28}, {'connected_gene': 'TBC1D31', 'score': 10.28}, {'connected_gene': 'ENSG00000253607', 'score': 10.07}, {'connected_gene': 'FAM83A-AS1', 'score': 9.2}, {'connected_gene': 'GC08M122743', 'score': 0.39}, {'connected_gene': 'CDK5P1', 'score': 0.39}]
chr8 GH08I122830 122830000 122830401 1.13 [{'connected_gene': 'ZHX2', 'score': 12.98}, {'connected_gene': 'FAM91A1', 'score': 9.85}, {'connected_gene': 'ENSG00000253372', 'score': 0.34}, {'connected_gene': 'GC08P122905', 'score': 0.18}]
chr8 GH08I122829 122828997 122829443 0.38 [{'connected_gene': 'ZHX2', 'score': 12.53}, {'connected_gene': 'ENSG00000253607', 'score': 10.44}, {'connected_gene': 'FAM83A-AS1', 'score': 9.46}, {'connected_gene': 'ENSG00000253372', 'score': 0.34}, {'connected_gene': 'GC08P122905', 'score': 0.18}]
chr8 GH08I122809 122809349 122811045 0.49 [{'connected_gene': 'ZHX2', 'score': 12.36}, {'connected_gene': 'ENSG00000253607', 'score': 10.26}, {'connected_gene': 'ENSG00000238901', 'score': 10.12}, {'connected_gene': 'FAM83A-AS1', 'score': 9.27}, {'connected_gene': 'ENSG00000253372', 'score': 0.77}, {'connected_gene': 'GC08P122905', 'score': 0.15}]
chr8 GH08I122801 122801274 122804107 0.38 [{'connected_gene': 'ZHX2', 'score': 11.35}, {'connected_gene': 'PIR52073', 'score': 0.77}, {'connected_gene': 'ENSG00000253372', 'score': 0.44}]
chr8 GH08I122944 122944601 122944800 0.46 [{'connected_gene': 'ZHX2', 'score': 11.0}, {'connected_gene': 'PIR45357', 'score': 0.39}, {'connected_gene': 'ENSG00000259631', 'score': 0.26}]
chr8 GH08I122871 122871859 122874072 0.38 [{'connected_gene': 'ZHX2', 'score': 12.71}, {'connected_gene': 'ENSG00000238901', 'score': 10.47}, {'connected_gene': 'GC08P122905', 'score': 0.29}, {'connected_gene': 'ENSG00000253372', 'score': 0.2}]
chr8 GH08I122872 122871726 122871738 0.22 [{'connected_gene': 'ZHX2', 'score': 12.71}, {'connected_gene': 'ENSG00000238901', 'score': 10.47}, {'connected_gene': 'GC08P122905', 'score': 0.29}, {'connected_gene': 'ENSG00000253372', 'score': 0.21}]
chr8 GH08I122836 122836279 122838912 0.94 [{'connected_gene': 'ZHX2', 'score': 10.76}, {'connected_gene': 'ENSG00000253372', 'score': 0.31}, {'connected_gene': 'GC08P122905', 'score': 0.2}]
chr8 GH08I122813 122813422 122814890 0.66 [{'connected_gene': 'ZHX2', 'score': 12.35}, {'connected_gene': 'ENSG00000253607', 'score': 10.26}, {'connected_gene': 'ENSG00000238901', 'score': 10.12}, {'connected_gene': 'ENSG00000253372', 'score': 0.44}, {'connected_gene': 'GC08P122905', 'score': 0.16}]
chr8 GH08I122811 122811373 122812658 0.2 [{'connected_gene': 'ZHX2', 'score': 12.35}, {'connected_gene': 'ENSG00000253607', 'score': 10.26}, {'connected_gene': 'ENSG00000238901', 'score': 10.12}, {'connected_gene': 'ENSG00000253372', 'score': 0.77}, {'connected_gene': 'GC08P122905', 'score': 0.16}]
chr8 GH08I122909 122909521 122909670 0.67 [{'connected_gene': 'ZHX2', 'score': 11.46}, {'connected_gene': 'ENSG00000253607', 'score': 10.45}, {'connected_gene': 'GC08P122905', 'score': 0.77}, {'connected_gene': 'PIR45357', 'score': 0.34}]
chr8 GH08I122875 122875387 122877330 0.57 [{'connected_gene': 'ZHX2', 'score': 12.7}, {'connected_gene': 'ENSG00000238901', 'score': 10.47}, {'connected_gene': 'GC08P122905', 'score': 0.31}, {'connected_gene': 'ENSG00000253372', 'score': 0.2}]
chr8 GH08I122828 122828030 122828853 1.3 [{'connected_gene': 'ZHX2', 'score': 11.82}, {'connected_gene': 'ENSG00000253607', 'score': 10.44}, {'connected_gene': 'ENSG00000253372', 'score': 0.34}, {'connected_gene': 'GC08P122905', 'score': 0.18}]
chr8 GH08I122910 122910401 122911444 0.57 [{'connected_gene': 'ZHX2', 'score': 10.61}, {'connected_gene': 'GC08P122905', 'score': 0.44}, {'connected_gene': 'PIR45357', 'score': 0.34}]
chr8 GH08I122945 122945434 122945534 0.22 [{'connected_gene': 'ZHX2', 'score': 11.0}, {'connected_gene': 'PIR45357', 'score': 0.39}, {'connected_gene': 'ENSG00000259631', 'score': 0.26}]
chr8 GH08I122925 122925661 122925810 0.38 [{'connected_gene': 'ZHX2', 'score': 11.01}, {'connected_gene': 'ENSG00000253607', 'score': 10.66}, {'connected_gene': 'PIR45357', 'score': 0.44}, {'connected_gene': 'GC08P122905', 'score': 0.34}]
chr8 GH08I122784 122784209 122790033 1.54 [{'connected_gene': 'ZHX2', 'score': 8.1}, {'connected_gene': 'PIR52073', 'score': 0.39}]
chr8 GH08I122790 122790808 122791678 0.2 [{'connected_gene': 'ZHX2', 'score': 0.44}, {'connected_gene': 'PIR52073', 'score': 0.44}]
chr8 GH08I122852 122852814 122854654 0.38 [{'connected_gene': 'ZHX1', 'score': 4.76}, {'connected_gene': 'ENSG00000253372', 'score': 0.25}, {'connected_gene': 'GC08P122905', 'score': 0.23}, {'connected_gene': 'ZHX2', 'score': 0.19}]
chr8 GH08I122721 122721075 122722531 0.82 [{'connected_gene': 'LINC01151', 'score': 11.31}, {'connected_gene': 'ENSG00000238901', 'score': 10.56}, {'connected_gene': 'ZHX2', 'score': 10.37}, {'connected_gene': 'FAM83A-AS1', 'score': 9.52}, {'connected_gene': 'ENSG00000263443', 'score': 0.37}, {'connected_gene': 'GC08M122743', 'score': 0.34}, {'connected_gene': 'GC08P122613', 'score': 0.14}]
chr8 GH08I122798 122798153 122800207 1.22 [{'connected_gene': 'PIR52073', 'score': 550.77}, {'connected_gene': 'ZHX2', 'score': 11.47}, {'connected_gene': 'C8orf76', 'score': 1.51}, {'connected_gene': 'ENSG00000253372', 'score': 0.44}]
chr8 GH08I122806 122805344 122807077 0.79 [{'connected_gene': 'ENSG00000253372', 'score': 550.77}, {'connected_gene': 'ZHX2', 'score': 10.92}, {'connected_gene': 'ENSG00000253607', 'score': 10.63}, {'connected_gene': 'FAM83A-AS1', 'score': 9.21}, {'connected_gene': 'PIR52073', 'score': 0.44}]
chr8 GH08I122794 122794612 122795600 1.27 [{'connected_gene': 'ENSG00000253607', 'score': 10.0}, {'connected_gene': 'PIR52073', 'score': 0.77}, {'connected_gene': 'ZHX2', 'score': 0.39}]
chr8 GH08I122958 122958697 122960844 0.69 [{'connected_gene': 'ENSG00000253607', 'score': 11.62}, {'connected_gene': 'ENSG00000259631', 'score': 0.31}, {'connected_gene': 'PIR45357', 'score': 0.31}, {'connected_gene': 'ZHX2', 'score': 0.1}]
chr8 GH08I122845 122845585 122846565 0.49 [{'connected_gene': 'ENSG00000253372', 'score': 0.28}, {'connected_gene': 'GC08P122905', 'score': 0.22}, {'connected_gene': 'ZHX2', 'score': 0.21}]
chr8 GH08I122921 122921861 122922986 0.63 [{'connected_gene': 'PIR45357', 'score': 0.44}, {'connected_gene': 'GC08P122905', 'score': 0.37}, {'connected_gene': 'ZHX2', 'score': 0.11}]
chr8 GH08I122971 122971608 122971680 0.24 [{'connected_gene': 'ENSG00000259631', 'score': 0.39}, {'connected_gene': 'PIR45357', 'score': 0.28}, {'connected_gene': 'ZHX2', 'score': 0.08}]
chr8 GH08I122842 122842893 122844331 0.66 [{'connected_gene': 'ENSG00000253372', 'score': 0.28}, {'connected_gene': 'GC08P122905', 'score': 0.21}, {'connected_gene': 'ZHX2', 'score': 0.21}]
chr8 GH08I122915 122915921 122916650 0.43 [{'connected_gene': 'GC08P122905', 'score': 0.39}, {'connected_gene': 'PIR45357', 'score': 0.37}, {'connected_gene': 'ZHX2', 'score': 0.12}]
chr8 GH08I122969 122969221 122971005 1.11 [{'connected_gene': 'ENSG00000259631', 'score': 0.37}, {'connected_gene': 'PIR45357', 'score': 0.28}, {'connected_gene': 'ZHX2', 'score': 0.09}]
chr8 GH08I122857 122857480 122858931 1.16 [{'connected_gene': 'GC08P122905', 'score': 0.25}, {'connected_gene': 'ENSG00000253372', 'score': 0.23}, {'connected_gene': 'ZHX2', 'score': 0.18}]
chr8 GH08I122851 122851847 122852135 0.69 [{'connected_gene': 'ENSG00000253372', 'score': 0.26}, {'connected_gene': 'GC08P122905', 'score': 0.23}, {'connected_gene': 'ZHX2', 'score': 0.19}]
chr8 GH08I122859 122859102 122859251 0.4 [{'connected_gene': 'GC08P122905', 'score': 0.25}, {'connected_gene': 'ENSG00000253372', 'score': 0.23}, {'connected_gene': 'ZHX2', 'score': 0.18}]
chr8 GH08I122796 122796834 122798151 1.17 [{'connected_gene': 'PIR52073', 'score': 550.77}, {'connected_gene': 'ZHX2', 'score': 0.37}]
chr8 GH08I122805 122805240 122805251 0.4 [{'connected_gene': 'ENSG00000253372', 'score': 0.77}, {'connected_gene': 'PIR52073', 'score': 0.44}, {'connected_gene': 'ZHX2', 'score': 0.34}]
chr8 GH08I122847 122847282 122848487 0.72 [{'connected_gene': 'ENSG00000253372', 'score': 0.26}, {'connected_gene': 'GC08P122905', 'score': 0.22}, {'connected_gene': 'ZHX2', 'score': 0.2}]
chr8 GH08I122922 122921401 122921600 0.31 [{'connected_gene': 'PIR45357', 'score': 0.39}, {'connected_gene': 'GC08P122905', 'score': 0.37}, {'connected_gene': 'ZHX2', 'score': 0.11}]
chr8 GH08I122838 122838987 122842511 0.52 [{'connected_gene': 'ENSG00000253372', 'score': 0.29}, {'connected_gene': 'ZHX2', 'score': 0.22}, {'connected_gene': 'GC08P122905', 'score': 0.21}]
chr8 GH08I122861 122861342 122861491 0.63 [{'connected_gene': 'GC08P122905', 'score': 0.26}, {'connected_gene': 'ENSG00000253372', 'score': 0.23}, {'connected_gene': 'ZHX2', 'score': 0.18}]
chr8 GH08I122791 122791880 122794199 0.2 [{'connected_gene': 'ENSG00000253607', 'score': 10.0}, {'connected_gene': 'PIR52073', 'score': 0.44}, {'connected_gene': 'ZHX2', 'score': 0.39}]
chr8 GH08I122854 122854804 122856939 1.02 [{'connected_gene': 'GC08P122905', 'score': 0.25}, {'connected_gene': 'ENSG00000253372', 'score': 0.25}, {'connected_gene': 'ZHX2', 'score': 0.19}]

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