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
ENST00000327835 [[81540685, 81553712], [81555269, 81555364], [81571819, 81571924], [81577049, 81577317], [81582737, 81582838], [81599460, 81599693], [81605238, 81605342], [81733608, 81733850], [81786805, 81787016]] [[81553600, 81553712], [81555269, 81555364], [81571819, 81571924], [81577049, 81577317], [81582737, 81582838], [81599460, 81599693], [81605238, 81605342], [81733608, 81733829]]
ENST00000520336 [[81577301, 81577317], [81582737, 81582838], [81599460, 81599693], [81605238, 81605342], [81606459, 81606543], [81726346, 81726494]] None
ENST00000519936 [[81582827, 81582838], [81599460, 81599693], [81605238, 81605342], [81733608, 81733850], [81785778, 81785900]] [[81582827, 81582838], [81599460, 81599693], [81605238, 81605342], [81733608, 81733829]]
ENST00000517379 [[81550768, 81551018], [81552760, 81552930]] None
ENST00000517986 [[81570902, 81571065], [81571819, 81571899]] None
ENST00000522040 [[81577076, 81577317], [81582737, 81582838], [81585469, 81585574]] None
NM_001033723 [[81540685, 81553712], [81555269, 81555364], [81571819, 81571924], [81577049, 81577317], [81582737, 81582838], [81599460, 81599693], [81605238, 81605342], [81733608, 81733850], [81786805, 81787016]] [[81553600, 81553712], [81555269, 81555364], [81571819, 81571924], [81577049, 81577317], [81582737, 81582838], [81599460, 81599693], [81605238, 81605342], [81733608, 81733829]]
Promoter
Chrom Start End Description
chr8 81787006 81787031 CAGE_peak_2_at_ZNF704_5end
chr8 81787186 81787198 CAGE_peak_9_at_ZNF704_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I080809 80809888 80811000 0.85 [{'connected_gene': 'CHMP4C', 'score': 12.36}, {'connected_gene': 'ENSG00000272518', 'score': 11.5}, {'connected_gene': 'RNU11-6P', 'score': 10.35}, {'connected_gene': 'HMGB1P41', 'score': 0.77}, {'connected_gene': 'GC08M080788', 'score': 0.34}, {'connected_gene': 'ZNF704', 'score': 0.21}]
chr8 GH08I080870 80870557 80870771 0.24 [{'connected_gene': 'ZNF704', 'score': 18.88}, {'connected_gene': 'ZBTB10', 'score': 1.27}, {'connected_gene': 'HMGB1P41', 'score': 0.22}]
chr8 GH08I080900 80899320 80900509 0.77 [{'connected_gene': 'ZNF704', 'score': 17.62}, {'connected_gene': 'FTH1P11', 'score': 5.27}, {'connected_gene': 'ENSG00000254060', 'score': 0.12}]
chr8 GH08I080899 80899046 80899195 0.31 [{'connected_gene': 'ZNF704', 'score': 13.26}, {'connected_gene': 'FTH1P11', 'score': 5.27}, {'connected_gene': 'ENSG00000254060', 'score': 0.12}]
chr8 GH08I080767 80767096 80768459 0.67 [{'connected_gene': 'ZNF704', 'score': 5.65}, {'connected_gene': 'RN7SL308P', 'score': 0.44}, {'connected_gene': 'GC08M080750', 'score': 0.37}, {'connected_gene': 'RNU11-6P', 'score': 0.37}]
chr8 GH08I080820 80819761 80821812 0.85 [{'connected_gene': 'ZNF704', 'score': 8.12}, {'connected_gene': 'HMGB1P41', 'score': 0.44}]
chr8 GH08I080845 80845246 80845335 0.2 [{'connected_gene': 'ZNF704', 'score': 0.31}, {'connected_gene': 'HMGB1P41', 'score': 0.29}]
chr8 GH08I080867 80867626 80867775 0.38 [{'connected_gene': 'ZNF704', 'score': 0.44}, {'connected_gene': 'HMGB1P41', 'score': 0.22}]
chr8 GH08I080871 80871834 80875241 1.93 [{'connected_gene': 'ZNF704', 'score': 558.06}, {'connected_gene': 'HMGB1P41', 'score': 0.21}]
chr8 GH08I080724 80724690 80729026 1.26 [{'connected_gene': 'ZNF704', 'score': 5.03}, {'connected_gene': 'PIR36752', 'score': 0.39}, {'connected_gene': 'GC08M080664', 'score': 0.28}]
chr8 GH08I080702 80702873 80703252 0.22 [{'connected_gene': 'ZNF704', 'score': 6.16}, {'connected_gene': 'GC08M080664', 'score': 0.37}, {'connected_gene': 'PIR36752', 'score': 0.28}]
chr8 GH08I080909 80909683 80910275 0.31 [{'connected_gene': 'ZNF704', 'score': 0.28}, {'connected_gene': 'ENSG00000254060', 'score': 0.13}]
chr8 GH08I080907 80907668 80909290 0.31 [{'connected_gene': 'ZNF704', 'score': 5.26}, {'connected_gene': 'ENSG00000254060', 'score': 0.13}]
chr8 GH08I080910 80909486 80909603 0.31 [{'connected_gene': 'ZNF704', 'score': 0.29}, {'connected_gene': 'ENSG00000254060', 'score': 0.13}]
chr8 GH08I080893 80893326 80894400 1.09 [{'connected_gene': 'ZNF704', 'score': 0.37}, {'connected_gene': 'ENSG00000254060', 'score': 0.11}]
chr8 GH08I080946 80946326 80947428 0.43 [{'connected_gene': 'ZNF704', 'score': 0.19}, {'connected_gene': 'ENSG00000254060', 'score': 0.16}]
chr8 GH08I080915 80915988 80916614 0.2 [{'connected_gene': 'ZNF704', 'score': 4.53}, {'connected_gene': 'ENSG00000254060', 'score': 0.13}]
chr8 GH08I081021 81021402 81022600 0.83 [{'connected_gene': 'PAG1', 'score': 11.33}, {'connected_gene': 'ENSG00000254060', 'score': 0.39}, {'connected_gene': 'ZNF704', 'score': 0.11}]
chr8 GH08I081004 81004601 81005200 0.62 [{'connected_gene': 'PAG1', 'score': 10.76}, {'connected_gene': 'ENSG00000254060', 'score': 0.29}, {'connected_gene': 'ZNF704', 'score': 0.12}]
chr8 GH08I081001 81001597 81003400 1.25 [{'connected_gene': 'PAG1', 'score': 13.07}, {'connected_gene': 'ENSG00000254060', 'score': 0.29}, {'connected_gene': 'ZNF704', 'score': 0.13}]
chr8 GH08I081014 81014801 81015000 0.31 [{'connected_gene': 'PAG1', 'score': 11.32}, {'connected_gene': 'ENSG00000254060', 'score': 0.34}, {'connected_gene': 'ZNF704', 'score': 0.11}]
chr8 GH08I080999 80998735 80999890 0.52 [{'connected_gene': 'PAG1', 'score': 10.56}, {'connected_gene': 'ENSG00000254060', 'score': 0.28}, {'connected_gene': 'ZNF704', 'score': 0.13}]
chr8 GH08I081022 81022801 81023000 0.51 [{'connected_gene': 'PAG1', 'score': 11.34}, {'connected_gene': 'ENSG00000254060', 'score': 0.39}, {'connected_gene': 'ZNF704', 'score': 0.11}]
chr8 GH08I081011 81011164 81011439 0.45 [{'connected_gene': 'PAG1', 'score': 12.92}, {'connected_gene': 'ENSG00000254060', 'score': 0.31}, {'connected_gene': 'ZNF704', 'score': 0.12}]
chr8 GH08I080981 80981602 80981887 0.69 [{'connected_gene': 'PAG1', 'score': 4.23}, {'connected_gene': 'ENSG00000254060', 'score': 0.22}, {'connected_gene': 'ZNF704', 'score': 0.14}]
chr8 GH08I081018 81018445 81018674 0.4 [{'connected_gene': 'PAG1', 'score': 13.56}, {'connected_gene': 'ENSG00000254060', 'score': 0.37}, {'connected_gene': 'ZNF704', 'score': 0.11}]
chr8 GH08I081146 81146959 81150629 1.32 [{'connected_gene': 'PAG1', 'score': 16.46}, {'connected_gene': 'LOC105375924', 'score': 14.76}, {'connected_gene': 'PMP2', 'score': 2.23}, {'connected_gene': 'ZNF704', 'score': 1.78}, {'connected_gene': 'GC08M081130', 'score': 0.37}]
chr8 GH08I080366 80366566 80368169 1.12 [{'connected_gene': 'RNU6-1213P', 'score': 11.85}, {'connected_gene': 'ENSG00000254027', 'score': 4.2}, {'connected_gene': 'ZNF704', 'score': 4.13}, {'connected_gene': 'GC08P080352', 'score': 0.37}]
chr8 GH08I080378 80378596 80379223 0.38 [{'connected_gene': 'RNU6-1213P', 'score': 11.93}, {'connected_gene': 'ENSG00000206649', 'score': 10.84}, {'connected_gene': 'ZNF704', 'score': 4.49}, {'connected_gene': 'GC08P080352', 'score': 0.31}]
chr8 GH08I080972 80972166 80972315 0.31 [{'connected_gene': 'RNU11-6P', 'score': 9.7}, {'connected_gene': 'ENSG00000254060', 'score': 0.21}, {'connected_gene': 'ZNF704', 'score': 0.15}, {'connected_gene': 'PAG1', 'score': 0.12}]
chr8 GH08I080678 80678794 80680158 0.38 [{'connected_gene': 'RNU11-6P', 'score': 10.08}, {'connected_gene': 'ZNF704', 'score': 5.97}, {'connected_gene': 'GC08M080664', 'score': 0.44}, {'connected_gene': 'CKS1BP7', 'score': 0.29}]
chr8 GH08I080854 80854104 80855275 0.31 [{'connected_gene': 'RNU11-6P', 'score': 10.26}, {'connected_gene': 'ZNF704', 'score': 0.34}, {'connected_gene': 'HMGB1P41', 'score': 0.26}]
chr8 GH08I080862 80862636 80862787 0.24 [{'connected_gene': 'RNU11-6P', 'score': 9.62}, {'connected_gene': 'ZNF704', 'score': 8.91}, {'connected_gene': 'HMGB1P41', 'score': 0.23}]
chr8 GH08I080837 80837650 80837927 0.22 [{'connected_gene': 'RNU11-6P', 'score': 11.09}, {'connected_gene': 'ZNF704', 'score': 1.65}, {'connected_gene': 'HMGB1P41', 'score': 0.31}]
chr8 GH08I080795 80795849 80797320 0.46 [{'connected_gene': 'RNU11-6P', 'score': 10.8}, {'connected_gene': 'ZNF704', 'score': 7.81}, {'connected_gene': 'GC08M080788', 'score': 0.44}, {'connected_gene': 'HMGB1P41', 'score': 0.37}]
chr8 GH08I080807 80807926 80808200 0.83 [{'connected_gene': 'RNU11-6P', 'score': 10.6}, {'connected_gene': 'ZNF704', 'score': 8.1}, {'connected_gene': 'HMGB1P41', 'score': 0.77}, {'connected_gene': 'GC08M080788', 'score': 0.37}]
chr8 GH08I080838 80838601 80839000 0.46 [{'connected_gene': 'RNU11-6P', 'score': 11.09}, {'connected_gene': 'ZNF704', 'score': 6.8}, {'connected_gene': 'HMGB1P41', 'score': 0.31}]
chr8 GH08I080697 80697052 80699336 0.87 [{'connected_gene': 'RNU11-6P', 'score': 10.94}, {'connected_gene': 'ZNF704', 'score': 5.49}, {'connected_gene': 'GC08M080664', 'score': 0.39}, {'connected_gene': 'PIR36752', 'score': 0.26}]
chr8 GH08I080715 80715201 80715400 0.31 [{'connected_gene': 'RNU11-6P', 'score': 11.76}, {'connected_gene': 'PIR36752', 'score': 0.34}, {'connected_gene': 'GC08M080664', 'score': 0.31}, {'connected_gene': 'ZNF704', 'score': 0.1}]
chr8 GH08I080934 80934286 80934435 0.2 [{'connected_gene': 'RNU11-6P', 'score': 9.22}, {'connected_gene': 'ZNF704', 'score': 0.22}, {'connected_gene': 'ENSG00000254060', 'score': 0.15}]
chr8 GH08I080925 80925355 80928097 1.01 [{'connected_gene': 'RNU11-6P', 'score': 10.18}, {'connected_gene': 'ZNF704', 'score': 0.23}, {'connected_gene': 'ENSG00000254060', 'score': 0.14}]
chr8 GH08I080691 80691066 80691155 0.6 [{'connected_gene': 'RNU11-6P', 'score': 10.7}, {'connected_gene': 'GC08M080664', 'score': 0.77}, {'connected_gene': 'PIR36752', 'score': 0.25}, {'connected_gene': 'ZNF704', 'score': 0.09}]
chr8 GH08I080964 80964695 80966342 1.06 [{'connected_gene': 'RNU11-6P', 'score': 9.85}, {'connected_gene': 'ZNF704', 'score': 5.38}, {'connected_gene': 'ENSG00000254060', 'score': 0.19}]
chr8 GH08I080864 80864499 80865368 1.39 [{'connected_gene': 'RNU11-6P', 'score': 10.06}, {'connected_gene': 'PAG1', 'score': 4.29}, {'connected_gene': 'ZNF704', 'score': 2.75}, {'connected_gene': 'ZBTB10', 'score': 1.49}, {'connected_gene': 'HMGB1P41', 'score': 0.23}]
chr8 GH08I080916 80916967 80920177 1.1 [{'connected_gene': 'RNU11-6P', 'score': 9.92}, {'connected_gene': 'PAG1', 'score': 4.68}, {'connected_gene': 'ZNF704', 'score': 4.59}, {'connected_gene': 'ZBTB10', 'score': 1.26}, {'connected_gene': 'ENSG00000254060', 'score': 0.13}]
chr8 GH08I080973 80972319 80973115 0.38 [{'connected_gene': 'RNU11-6P', 'score': 9.7}, {'connected_gene': 'PAG1', 'score': 4.18}, {'connected_gene': 'ENSG00000254060', 'score': 0.21}, {'connected_gene': 'ZNF704', 'score': 0.15}]
chr8 GH08I080683 80683046 80683175 0.62 [{'connected_gene': 'RNU11-6P', 'score': 10.1}, {'connected_gene': 'GC08M080664', 'score': 0.77}, {'connected_gene': 'CKS1BP7', 'score': 0.28}, {'connected_gene': 'ZNF704', 'score': 0.08}]
chr8 GH08I080782 80782326 80782475 0.38 [{'connected_gene': 'RNU11-6P', 'score': 11.28}, {'connected_gene': 'GC08M080788', 'score': 0.44}, {'connected_gene': 'RN7SL308P', 'score': 0.44}, {'connected_gene': 'ZNF704', 'score': 0.16}]
chr8 GH08I080842 80842505 80843898 0.49 [{'connected_gene': 'RNU11-6P', 'score': 10.08}, {'connected_gene': 'HMGB1P41', 'score': 0.29}, {'connected_gene': 'ZNF704', 'score': 0.29}]
chr8 GH08I080808 80807201 80807400 0.2 [{'connected_gene': 'RNU11-6P', 'score': 10.55}, {'connected_gene': 'HMGB1P41', 'score': 0.44}, {'connected_gene': 'GC08M080788', 'score': 0.37}, {'connected_gene': 'ZNF704', 'score': 0.2}]
chr8 GH08I080819 80819526 80819675 0.2 [{'connected_gene': 'HMGB1P41', 'score': 0.44}, {'connected_gene': 'ZNF704', 'score': 0.22}]
chr8 GH08I079934 79934426 79935772 0.66 [{'connected_gene': 'ENSG00000251867', 'score': 12.71}, {'connected_gene': 'ZNF704', 'score': 12.36}, {'connected_gene': 'ZBTB10', 'score': 9.81}, {'connected_gene': 'RNU7-85P', 'score': 9.67}, {'connected_gene': 'GC08P079918', 'score': 0.37}, {'connected_gene': 'ENSG00000272518', 'score': 0.34}, {'connected_gene': 'MRPS28', 'score': 0.15}, {'connected_gene': 'ENSG00000276418', 'score': 0.11}]
chr8 GH08I080991 80991011 80992570 0.91 [{'connected_gene': 'ENSG00000254060', 'score': 0.25}, {'connected_gene': 'ZNF704', 'score': 0.13}, {'connected_gene': 'PAG1', 'score': 0.13}]
chr8 GH08I080988 80988654 80989944 0.2 [{'connected_gene': 'ENSG00000254060', 'score': 0.25}, {'connected_gene': 'ZNF704', 'score': 0.14}, {'connected_gene': 'PAG1', 'score': 0.13}]
chr8 GH08I081034 81034286 81034395 0.51 [{'connected_gene': 'ENSG00000254060', 'score': 0.77}, {'connected_gene': 'PAG1', 'score': 0.18}, {'connected_gene': 'ZNF704', 'score': 0.1}]
chr8 GH08I080998 80998201 80998535 0.89 [{'connected_gene': 'ENSG00000254060', 'score': 0.28}, {'connected_gene': 'PAG1', 'score': 0.14}, {'connected_gene': 'ZNF704', 'score': 0.13}]
chr8 GH08I081027 81027593 81030242 1.3 [{'connected_gene': 'ENSG00000254060', 'score': 0.44}, {'connected_gene': 'PAG1', 'score': 0.18}, {'connected_gene': 'ZNF704', 'score': 0.1}]
chr8 GH08I081025 81025255 81027576 1.37 [{'connected_gene': 'ENSG00000272425', 'score': 9.81}, {'connected_gene': 'PAG1', 'score': 2.89}, {'connected_gene': 'ENSG00000254060', 'score': 0.39}, {'connected_gene': 'ZNF704', 'score': 0.1}]
chr8 GH08I081035 81034404 81038673 1.04 [{'connected_gene': 'ENSG00000254060', 'score': 550.77}, {'connected_gene': 'PAG1', 'score': 11.11}, {'connected_gene': 'RPSAP47', 'score': 4.33}, {'connected_gene': 'ZNF704', 'score': 0.1}]
chr8 GH08I080376 80376324 80378528 1.19 [{'connected_gene': 'ENSG00000206649', 'score': 12.0}, {'connected_gene': 'RNU6-1213P', 'score': 11.93}, {'connected_gene': 'ZNF704', 'score': 4.45}, {'connected_gene': 'ZBTB10', 'score': 3.68}, {'connected_gene': 'GC08P080352', 'score': 0.31}]
chr8 GH08I080687 80687001 80687955 1 [{'connected_gene': 'GC08M080664', 'score': 550.77}, {'connected_gene': 'RNU11-6P', 'score': 10.07}, {'connected_gene': 'ZNF704', 'score': 4.22}, {'connected_gene': 'PIR36752', 'score': 0.23}]
chr8 GH08I080745 80745335 80746215 0.49 [{'connected_gene': 'GC08M080750', 'score': 0.77}, {'connected_gene': 'RNU11-6P', 'score': 0.77}, {'connected_gene': 'PIR36752', 'score': 0.44}, {'connected_gene': 'ZNF704', 'score': 0.13}]
chr8 GH08I080752 80751206 80751355 0.43 [{'connected_gene': 'GC08M080750', 'score': 550.77}, {'connected_gene': 'RNU11-6P', 'score': 550.77}, {'connected_gene': 'RN7SL308P', 'score': 0.31}, {'connected_gene': 'ZNF704', 'score': 0.13}]
chr8 GH08I080751 80751610 80755340 0.94 [{'connected_gene': 'GC08M080750', 'score': 0.77}, {'connected_gene': 'RNU11-6P', 'score': 0.77}, {'connected_gene': 'RN7SL308P', 'score': 0.34}, {'connected_gene': 'ZNF704', 'score': 0.13}]

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