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
ENST00000391813 [[51165083, 51165939], [51169448, 51172542], [51175274, 51175371], [51189493, 51189612], [51190000, 51190069], [51190838, 51190919], [51191179, 51191315], [51192100, 51192225], [51192453, 51192661]] [[51165221, 51165939], [51169448, 51172542], [51175274, 51175371], [51189493, 51189612], [51190000, 51190069], [51190838, 51190919], [51191179, 51191315], [51192100, 51192225], [51192453, 51192661]]
ENST00000293441 [[51165083, 51165939], [51169448, 51172542], [51175274, 51175371], [51189493, 51189612], [51190000, 51190069], [51190838, 51190919], [51191179, 51191315], [51192100, 51192225], [51192453, 51192536], [51200352, 51200379], [51200845, 51200921], [51201099, 51201213], [51205723, 51205917], [51206756, 51207087], [51207376, 51207443], [51207693, 51207771], [51214627, 51214744], [51215203, 51215371], [51217054, 51217206], [51217438, 51217547], [51218915, 51218987], [51219531, 51219735], [51219921, 51220195]] [[51165221, 51165939], [51169448, 51172542], [51175274, 51175371], [51189493, 51189612], [51190000, 51190069], [51190838, 51190919], [51191179, 51191315], [51192100, 51192225], [51192453, 51192536], [51200352, 51200379], [51200845, 51200921], [51201099, 51201213], [51205723, 51205917], [51206756, 51207087], [51207376, 51207443], [51207693, 51207771], [51214627, 51214744], [51215203, 51215371], [51217054, 51217206], [51217438, 51217547], [51218915, 51218987], [51219531, 51219735], [51219921, 51220176]]
ENST00000391814 [[51165197, 51165939], [51169448, 51172542], [51175274, 51175371], [51189493, 51189612], [51190000, 51190069], [51190273, 51190297], [51190838, 51190919], [51191179, 51191315], [51192100, 51192225], [51192453, 51192536], [51200352, 51200379], [51200845, 51200921], [51201099, 51201213], [51205723, 51205917], [51206756, 51207087], [51207376, 51207443], [51207693, 51207771], [51214627, 51214744], [51215203, 51215371], [51217054, 51217206], [51217438, 51217547], [51218915, 51218987], [51219531, 51219735], [51219921, 51220219], [51222662, 51222707]] [[51165221, 51165939], [51169448, 51172542], [51175274, 51175371], [51189493, 51189612], [51190000, 51190069], [51190273, 51190297], [51190838, 51190919], [51191179, 51191315], [51192100, 51192225], [51192453, 51192536], [51200352, 51200379], [51200845, 51200921], [51201099, 51201213], [51205723, 51205917], [51206756, 51207087], [51207376, 51207443], [51207693, 51207771], [51214627, 51214744], [51215203, 51215371], [51217054, 51217206], [51217438, 51217547], [51218915, 51218987], [51219531, 51219735], [51219921, 51220176]]
ENST00000359082 [[51165221, 51165939], [51169448, 51172542], [51175274, 51175371], [51189493, 51189612], [51190000, 51190069], [51190838, 51190919], [51191179, 51191315], [51192100, 51192225], [51192453, 51192536], [51200845, 51200921], [51201099, 51201213], [51205723, 51205917], [51206756, 51207087], [51207376, 51207443], [51207693, 51207771], [51214627, 51214744], [51215203, 51215371], [51217054, 51217206], [51217438, 51217547], [51218915, 51218987], [51219531, 51219735], [51219921, 51220176]] [[51165221, 51165939], [51169448, 51172542], [51175274, 51175371], [51189493, 51189612], [51190000, 51190069], [51190838, 51190919], [51191179, 51191315], [51192100, 51192225], [51192453, 51192536], [51200845, 51200921], [51201099, 51201213], [51205723, 51205917], [51206756, 51207087], [51207376, 51207443], [51207693, 51207771], [51214627, 51214744], [51215203, 51215371], [51217054, 51217206], [51217438, 51217547], [51218915, 51218987], [51219531, 51219735], [51219921, 51220176]]
ENST00000483981 [[51165590, 51165939], [51166353, 51166426]] None
ENST00000468654 [[51165886, 51165939], [51166353, 51166426], [51169448, 51169990]] [[51166416, 51166426], [51169448, 51169990]]
ENST00000461154 [[51206955, 51207443], [51207693, 51207763]] None
ENST00000483128 [[51214283, 51214744], [51215203, 51215371], [51217054, 51217205]] None
NM_016148 [[51162513, 51165939], [51169448, 51172542], [51175274, 51175371], [51189493, 51189612], [51190000, 51190069], [51190838, 51190919], [51191179, 51191315], [51192100, 51192225], [51192453, 51192536], [51200352, 51200379], [51200845, 51200921], [51201099, 51201213], [51205723, 51205917], [51206756, 51207087], [51207376, 51207443], [51207693, 51207771], [51214627, 51214744], [51215203, 51215371], [51217054, 51217206], [51217438, 51217547], [51218915, 51218987], [51219531, 51219735], [51219921, 51220195]] [[51165221, 51165939], [51169448, 51172542], [51175274, 51175371], [51189493, 51189612], [51190000, 51190069], [51190838, 51190919], [51191179, 51191315], [51192100, 51192225], [51192453, 51192536], [51200352, 51200379], [51200845, 51200921], [51201099, 51201213], [51205723, 51205917], [51206756, 51207087], [51207376, 51207443], [51207693, 51207771], [51214627, 51214744], [51215203, 51215371], [51217054, 51217206], [51217438, 51217547], [51218915, 51218987], [51219531, 51219735], [51219921, 51220176]]
Promoter
Chrom Start End Description
chr19 51223018 51223080 CAGE_peak_1_at_SHANK1_5end
chr19 51223083 51223093 CAGE_peak_2_at_SHANK1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I050657 50657515 50660407 1.58 [{'connected_gene': 'SYT3', 'score': 550.77}, {'connected_gene': 'POLD1', 'score': 70.78}, {'connected_gene': 'NUP62', 'score': 68.69}, {'connected_gene': 'PTOV1-AS2', 'score': 50.68}, {'connected_gene': 'IRF3', 'score': 46.35}, {'connected_gene': 'ZNF175', 'score': 40.29}, {'connected_gene': 'PNKP', 'score': 31.22}, {'connected_gene': 'ENSG00000268047', 'score': 26.92}, {'connected_gene': 'ZNF473', 'score': 22.26}, {'connected_gene': 'CTU1', 'score': 19.81}, {'connected_gene': 'C19orf81', 'score': 16.15}, {'connected_gene': 'CPT1C', 'score': 15.07}, {'connected_gene': 'TSKS', 'score': 14.52}, {'connected_gene': 'ENSG00000267808', 'score': 13.8}, {'connected_gene': 'VRK3', 'score': 12.22}, {'connected_gene': 'C19orf48', 'score': 12.18}, {'connected_gene': 'PTOV1', 'score': 10.58}, {'connected_gene': 'MED25', 'score': 10.08}, {'connected_gene': 'ADM5', 'score': 9.87}, {'connected_gene': 'PIR41386', 'score': 0.26}, {'connected_gene': 'SHANK1', 'score': 0.21}]
chr19 GH19I050509 50508805 50509125 0.55 [{'connected_gene': 'SYT3', 'score': 1.6}, {'connected_gene': 'SHANK1', 'score': 1.29}, {'connected_gene': 'KLK6', 'score': 1.28}, {'connected_gene': 'JOSD2', 'score': 0.77}, {'connected_gene': 'LOC100506114', 'score': 0.34}]
chr19 GH19I051016 51016639 51018114 1.11 [{'connected_gene': 'ZNF175', 'score': 29.06}, {'connected_gene': 'ZNF615', 'score': 25.61}, {'connected_gene': 'KLK10', 'score': 23.63}, {'connected_gene': 'ZNF577', 'score': 19.9}, {'connected_gene': 'LRRC4B', 'score': 15.86}, {'connected_gene': 'POLD1', 'score': 13.51}, {'connected_gene': 'SPACA6', 'score': 13.46}, {'connected_gene': 'ZNF613', 'score': 12.25}, {'connected_gene': 'ZNF350', 'score': 11.4}, {'connected_gene': 'KLK13', 'score': 11.2}, {'connected_gene': 'KLK6', 'score': 11.08}, {'connected_gene': 'ZNF473', 'score': 10.98}, {'connected_gene': 'ENSG00000267808', 'score': 10.77}, {'connected_gene': 'SHANK1', 'score': 10.69}, {'connected_gene': 'ZNF649', 'score': 10.65}, {'connected_gene': 'KLK14', 'score': 10.37}, {'connected_gene': 'VRK3', 'score': 10.36}, {'connected_gene': 'ENSG00000268231', 'score': 10.26}, {'connected_gene': 'LINC01869', 'score': 9.46}, {'connected_gene': 'C19orf48', 'score': 9.46}, {'connected_gene': 'SNORD88C', 'score': 9.46}, {'connected_gene': 'ENSG00000268739', 'score': 0.77}]
chr19 GH19I051687 51687021 51693960 2.13 [{'connected_gene': 'ZNF137P', 'score': 107.16}, {'connected_gene': 'ZNF808', 'score': 106.79}, {'connected_gene': 'ZNF841', 'score': 101.0}, {'connected_gene': 'ZNF616', 'score': 97.72}, {'connected_gene': 'ZNF766', 'score': 85.53}, {'connected_gene': 'ZNF577', 'score': 81.85}, {'connected_gene': 'ENSG00000268970', 'score': 76.41}, {'connected_gene': 'ZNF836', 'score': 76.27}, {'connected_gene': 'ENSG00000269825', 'score': 75.92}, {'connected_gene': 'ZNF175', 'score': 72.26}, {'connected_gene': 'ZNF350', 'score': 50.77}, {'connected_gene': 'ZNF528', 'score': 45.92}, {'connected_gene': 'ZNF480', 'score': 43.75}, {'connected_gene': 'ENSG00000269535', 'score': 40.63}, {'connected_gene': 'ZNF432', 'score': 40.54}, {'connected_gene': 'LOC100419835', 'score': 39.93}, {'connected_gene': 'SIGLEC17P', 'score': 34.1}, {'connected_gene': 'ZNF613', 'score': 31.2}, {'connected_gene': 'ENSG00000268316', 'score': 30.81}, {'connected_gene': 'ZNF614', 'score': 27.48}, {'connected_gene': 'ZNF578', 'score': 23.07}, {'connected_gene': 'ENSG00000267808', 'score': 22.45}, {'connected_gene': 'SPACA6', 'score': 21.02}, {'connected_gene': 'ZNF528-AS1', 'score': 19.88}, {'connected_gene': 'ZNF649', 'score': 19.87}, {'connected_gene': 'ZNF610', 'score': 19.36}, {'connected_gene': 'ZNF615', 'score': 18.38}, {'connected_gene': 'SIGLEC14', 'score': 16.09}, {'connected_gene': 'SIGLEC6', 'score': 15.7}, {'connected_gene': 'ENSG00000269483', 'score': 12.57}, {'connected_gene': 'CTU1', 'score': 10.87}, {'connected_gene': 'SHANK1', 'score': 10.65}, {'connected_gene': 'FPR3', 'score': 10.42}, {'connected_gene': 'SIGLEC5', 'score': 10.4}, {'connected_gene': 'RPL7P51', 'score': 10.4}, {'connected_gene': 'ENSG00000269102', 'score': 9.72}, {'connected_gene': 'HAS1', 'score': 9.13}, {'connected_gene': 'FPR2', 'score': 8.31}, {'connected_gene': 'FPR1', 'score': 7.39}, {'connected_gene': 'SIGLEC8', 'score': 7.27}, {'connected_gene': 'SPACA6P-AS', 'score': 7.1}, {'connected_gene': 'IGLON5', 'score': 4.95}, {'connected_gene': 'SIGLEC10', 'score': 2.65}, {'connected_gene': 'SIGLECL1', 'score': 1.61}, {'connected_gene': 'CLDND2', 'score': 1.13}, {'connected_gene': 'GC19P051725', 'score': 0.77}, {'connected_gene': 'MIR99B', 'score': 0.77}, {'connected_gene': 'GC19P051722', 'score': 0.77}, {'connected_gene': 'GC19P051724', 'score': 0.77}, {'connected_gene': 'MIR125A', 'score': 0.77}, {'connected_gene': 'GC19P051723', 'score': 0.77}, {'connected_gene': 'MIRLET7E', 'score': 0.77}, {'connected_gene': 'GC19P051649', 'score': 0.26}]
chr19 GH19I050720 50720488 50726224 2.32 [{'connected_gene': 'CLEC11A', 'score': 570.56}, {'connected_gene': 'C19orf48', 'score': 12.17}, {'connected_gene': 'GPR32', 'score': 12.16}, {'connected_gene': 'AKT1S1', 'score': 11.24}, {'connected_gene': 'SNORD88A', 'score': 10.93}, {'connected_gene': 'SNORD88C', 'score': 10.93}, {'connected_gene': 'SNORD88B', 'score': 10.93}, {'connected_gene': 'LINC01869', 'score': 10.7}, {'connected_gene': 'NUP62', 'score': 10.4}, {'connected_gene': 'KLK1', 'score': 10.36}, {'connected_gene': 'KLK15', 'score': 10.35}, {'connected_gene': 'EMC10', 'score': 5.82}, {'connected_gene': 'KLK8', 'score': 4.82}, {'connected_gene': 'SHANK1', 'score': 4.19}, {'connected_gene': 'GPR32P1', 'score': 0.29}]
chr19 GH19I050695 50695166 50695581 0.76 [{'connected_gene': 'ASPDH', 'score': 19.0}, {'connected_gene': 'SYT3', 'score': 15.73}, {'connected_gene': 'KCNC3', 'score': 14.8}, {'connected_gene': 'LRRC4B', 'score': 13.31}, {'connected_gene': 'SPACA6P-AS', 'score': 11.36}, {'connected_gene': 'FUZ', 'score': 9.95}, {'connected_gene': 'SHANK1', 'score': 3.95}, {'connected_gene': 'KLK6', 'score': 2.92}, {'connected_gene': 'PIR41386', 'score': 0.44}]
chr19 GH19I050507 50507027 50507261 0.51 [{'connected_gene': 'ASPDH', 'score': 6.17}, {'connected_gene': 'KLKP1', 'score': 4.87}, {'connected_gene': 'C19orf81', 'score': 3.63}, {'connected_gene': 'KLK4', 'score': 3.47}, {'connected_gene': 'ACP4', 'score': 1.5}, {'connected_gene': 'SHANK1', 'score': 1.46}, {'connected_gene': 'SYT3', 'score': 1.27}, {'connected_gene': 'JOSD2', 'score': 0.77}, {'connected_gene': 'LOC100506114', 'score': 0.37}]
chr19 GH19I050649 50649401 50650273 1.18 [{'connected_gene': 'POLD1', 'score': 46.78}, {'connected_gene': 'IRF3', 'score': 35.93}, {'connected_gene': 'NUP62', 'score': 32.09}, {'connected_gene': 'PRMT1', 'score': 28.22}, {'connected_gene': 'ENSG00000268047', 'score': 25.22}, {'connected_gene': 'SIGLEC17P', 'score': 24.1}, {'connected_gene': 'BCL2L12', 'score': 23.9}, {'connected_gene': 'PTOV1', 'score': 20.32}, {'connected_gene': 'ENSG00000267808', 'score': 19.76}, {'connected_gene': 'CPT1C', 'score': 17.5}, {'connected_gene': 'LRRC4B', 'score': 15.99}, {'connected_gene': 'PTOV1-AS2', 'score': 14.75}, {'connected_gene': 'PNKP', 'score': 13.96}, {'connected_gene': 'ZNF473', 'score': 11.49}, {'connected_gene': 'SHANK1', 'score': 10.83}, {'connected_gene': 'SIGLEC6', 'score': 10.66}, {'connected_gene': 'ENSG00000268231', 'score': 10.38}, {'connected_gene': 'MED25', 'score': 10.08}, {'connected_gene': 'ADM5', 'score': 9.93}, {'connected_gene': 'ETFB', 'score': 5.11}, {'connected_gene': 'SYT3', 'score': 0.44}, {'connected_gene': 'GC19M050639', 'score': 0.39}, {'connected_gene': 'C19orf81', 'score': 0.37}]
chr19 GH19I050718 50718178 50719801 1.5 [{'connected_gene': 'SHANK1', 'score': 554.08}, {'connected_gene': 'CLEC11A', 'score': 15.65}, {'connected_gene': 'SPACA6P-AS', 'score': 11.36}, {'connected_gene': 'FUZ', 'score': 9.95}, {'connected_gene': 'SYT3', 'score': 7.13}, {'connected_gene': 'LRRC4B', 'score': 6.14}, {'connected_gene': 'ASPDH', 'score': 4.48}, {'connected_gene': 'KCNC3', 'score': 2.99}, {'connected_gene': 'PIR41386', 'score': 0.37}]
chr19 GH19I050719 50719844 50719913 0.64 [{'connected_gene': 'SHANK1', 'score': 550.77}, {'connected_gene': 'SPACA6P-AS', 'score': 11.36}, {'connected_gene': 'FUZ', 'score': 9.95}, {'connected_gene': 'CLEC11A', 'score': 0.77}]
chr19 GH19I050721 50718024 50718133 0.38 [{'connected_gene': 'SHANK1', 'score': 550.77}, {'connected_gene': 'PIR41386', 'score': 0.37}]
chr19 GH19I050716 50716861 50716920 0.5 [{'connected_gene': 'SHANK1', 'score': 550.77}, {'connected_gene': 'PIR41386', 'score': 0.39}]
chr19 GH19I050663 50663741 50664139 0.55 [{'connected_gene': 'KLK14', 'score': 2.28}, {'connected_gene': 'SYT3', 'score': 2.18}, {'connected_gene': 'KLK6', 'score': 2.06}, {'connected_gene': 'C19orf81', 'score': 1.96}, {'connected_gene': 'KLK4', 'score': 1.57}, {'connected_gene': 'PIR41386', 'score': 0.28}, {'connected_gene': 'SHANK1', 'score': 0.22}]
chr19 GH19I050328 50328644 50334561 2.6 [{'connected_gene': 'KCNC3', 'score': 569.55}, {'connected_gene': 'NR1H2', 'score': 552.63}, {'connected_gene': 'LOC105372437', 'score': 550.77}, {'connected_gene': 'NUP62', 'score': 55.03}, {'connected_gene': 'PRR12', 'score': 50.28}, {'connected_gene': 'POLD1', 'score': 38.82}, {'connected_gene': 'ENSG00000268047', 'score': 25.05}, {'connected_gene': 'PTOV1-AS2', 'score': 23.11}, {'connected_gene': 'SNORD35A', 'score': 19.83}, {'connected_gene': 'CTU1', 'score': 19.51}, {'connected_gene': 'PNKP', 'score': 18.9}, {'connected_gene': 'ZNF473', 'score': 18.27}, {'connected_gene': 'PIH1D1', 'score': 17.86}, {'connected_gene': 'CPT1C', 'score': 15.07}, {'connected_gene': 'NAPSB', 'score': 12.46}, {'connected_gene': 'AKT1S1', 'score': 11.26}, {'connected_gene': 'IRF3', 'score': 11.22}, {'connected_gene': 'SNORD35B', 'score': 10.82}, {'connected_gene': 'MED25', 'score': 10.09}, {'connected_gene': 'ALDH16A1', 'score': 10.06}, {'connected_gene': 'FUZ', 'score': 9.96}, {'connected_gene': 'ADM5', 'score': 9.88}, {'connected_gene': 'PRRG2', 'score': 5.14}, {'connected_gene': 'SYT3', 'score': 3.13}, {'connected_gene': 'LRRC4B', 'score': 2.1}, {'connected_gene': 'ASPDH', 'score': 1.51}, {'connected_gene': 'MYH14', 'score': 1.51}, {'connected_gene': 'IL4I1', 'score': 1.37}, {'connected_gene': 'GPR32', 'score': 1.31}, {'connected_gene': 'SHANK1', 'score': 1.21}]
chr19 GH19I050678 50678866 50680086 1.2 [{'connected_gene': 'NUP62', 'score': 79.99}, {'connected_gene': 'POLD1', 'score': 63.77}, {'connected_gene': 'PTOV1-AS2', 'score': 37.78}, {'connected_gene': 'ENSG00000268047', 'score': 37.62}, {'connected_gene': 'ENSG00000267808', 'score': 34.25}, {'connected_gene': 'CPT1C', 'score': 30.65}, {'connected_gene': 'ADM5', 'score': 29.14}, {'connected_gene': 'ZNF473', 'score': 19.52}, {'connected_gene': 'PTOV1', 'score': 18.63}, {'connected_gene': 'LRRC4B', 'score': 15.94}, {'connected_gene': 'PNKP', 'score': 15.88}, {'connected_gene': 'CTU1', 'score': 13.68}, {'connected_gene': 'RPS9P4', 'score': 12.43}, {'connected_gene': 'SIGLEC17P', 'score': 11.99}, {'connected_gene': 'SHANK1', 'score': 10.89}, {'connected_gene': 'SIGLEC6', 'score': 10.66}, {'connected_gene': 'ENSG00000268231', 'score': 10.34}, {'connected_gene': 'MED25', 'score': 10.08}, {'connected_gene': 'SYT3', 'score': 0.34}, {'connected_gene': 'PIR41386', 'score': 0.34}]
chr19 GH19I050169 50168645 50169578 0.77 [{'connected_gene': 'CPT1C', 'score': 17.52}, {'connected_gene': 'LRRC4B', 'score': 15.86}, {'connected_gene': 'SHANK1', 'score': 10.66}, {'connected_gene': 'ENSG00000268231', 'score': 10.27}, {'connected_gene': 'IZUMO2', 'score': 0.44}, {'connected_gene': 'MYH14', 'score': 0.37}]
chr19 GH19I050702 50702590 50703898 0.46 [{'connected_gene': 'PIR41386', 'score': 550.77}, {'connected_gene': 'GPR32', 'score': 11.47}, {'connected_gene': 'SNORD88C', 'score': 10.37}, {'connected_gene': 'SNORD88A', 'score': 10.37}, {'connected_gene': 'SNORD88B', 'score': 10.37}, {'connected_gene': 'SHANK1', 'score': 0.37}]
chr19 GH19I050311 50311684 50316859 1.4 [{'connected_gene': 'PIR40912', 'score': 550.77}, {'connected_gene': 'CPT1C', 'score': 17.5}, {'connected_gene': 'LRRC4B', 'score': 15.88}, {'connected_gene': 'POLD1', 'score': 12.46}, {'connected_gene': 'NUP62', 'score': 11.35}, {'connected_gene': 'SHANK1', 'score': 10.68}, {'connected_gene': 'PTOV1', 'score': 10.59}, {'connected_gene': 'ENSG00000268231', 'score': 10.29}, {'connected_gene': 'MED25', 'score': 10.1}, {'connected_gene': 'KCNC3', 'score': 6.17}, {'connected_gene': 'MYH14', 'score': 4.95}, {'connected_gene': 'GC19M050323', 'score': 0.44}]

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