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
ENST00000318445 [[92396924, 92397318], [92459222, 92459688], [92638110, 92638209], [92647508, 92647772], [92663694, 92663859], [92669290, 92669489], [92671580, 92671719], [92690213, 92690389], [92694179, 92694244], [92705985, 92709133]] [[92397138, 92397318], [92459222, 92459688], [92638110, 92638209], [92647508, 92647772], [92663694, 92663859], [92669290, 92669489], [92671580, 92671719], [92690213, 92690389], [92694179, 92694244], [92705985, 92706365]]
ENST00000553653 [[92396952, 92397318], [92459222, 92459688], [92638110, 92638209], [92647508, 92647772], [92663694, 92663859], [92669290, 92669489], [92671580, 92671719], [92690213, 92690389], [92694179, 92694446]] None
ENST00000424469 [[92397085, 92397318], [92459222, 92459688], [92638110, 92638209], [92647508, 92647772], [92663694, 92663859], [92669290, 92669489], [92671580, 92671719], [92690213, 92690389], [92694179, 92694244], [92705985, 92706228], [92715009, 92715665]] [[92397138, 92397318], [92459222, 92459688], [92638110, 92638209], [92647508, 92647772], [92663694, 92663859], [92669290, 92669489], [92671580, 92671719], [92690213, 92690389], [92694179, 92694244], [92705985, 92706228], [92715009, 92715092]]
ENST00000555111 [[92397254, 92397318], [92432330, 92432435], [92451731, 92451989]] None
ENST00000553304 [[92397350, 92397531], [92459222, 92459608]] [[92397525, 92397531], [92459222, 92459608]]
ENST00000555769 [[92397565, 92397640], [92459222, 92459688], [92638110, 92638209], [92647508, 92647772], [92663694, 92663859], [92669290, 92669489], [92671580, 92671719], [92690213, 92690389], [92694179, 92694244], [92696726, 92696851], [92698422, 92698499]] None
ENST00000556649 [[92484547, 92484806], [92638110, 92638209], [92647508, 92647767]] None
ENST00000555549 [[92641159, 92641452], [92647508, 92647772], [92663694, 92663859], [92669290, 92669489], [92671580, 92671719], [92690213, 92690389], [92694179, 92694244], [92705985, 92706776]] None
ENST00000555892 [[92669413, 92669489], [92671580, 92671719], [92690213, 92690389], [92694179, 92694244], [92715009, 92715077]] [[92669479, 92669489], [92671580, 92671719], [92690213, 92690328]]
ENST00000555210 [[92669415, 92669489], [92671580, 92671719], [92690213, 92690389], [92694184, 92694244], [92705985, 92706176]] [[92669415, 92669489], [92671580, 92671719], [92690213, 92690328]]
ENST00000555513 [[92696792, 92696851], [92705985, 92706438]] None
ENST00000564072 [[92704804, 92706776]] None
ENST00000566477 [[92714101, 92715665]] None
NM_013272 [[92396937, 92397318], [92459222, 92459688], [92638110, 92638209], [92647508, 92647772], [92663694, 92663859], [92669290, 92669489], [92671580, 92671719], [92690213, 92690389], [92694179, 92694244], [92705985, 92709137]] [[92397138, 92397318], [92459222, 92459688], [92638110, 92638209], [92647508, 92647772], [92663694, 92663859], [92669290, 92669489], [92671580, 92671719], [92690213, 92690389], [92694179, 92694244], [92705985, 92706365]]
NM_001145044 [[92396937, 92397318], [92459222, 92459688], [92638110, 92638209], [92647508, 92647772], [92663694, 92663859], [92669290, 92669489], [92671580, 92671719], [92690213, 92690389], [92694179, 92694244], [92705985, 92706228], [92715009, 92715665]] [[92397138, 92397318], [92459222, 92459688], [92638110, 92638209], [92647508, 92647772], [92663694, 92663859], [92669290, 92669489], [92671580, 92671719], [92690213, 92690389], [92694179, 92694244], [92705985, 92706228], [92715009, 92715092]]
NR_135775 [[92397529, 92397640], [92459222, 92459688], [92638110, 92638209], [92647508, 92647772], [92663694, 92663859], [92669290, 92669489], [92671580, 92671719], [92690213, 92690389], [92694179, 92694244], [92696726, 92696851], [92698422, 92698549]] None
Promoter
Chrom Start End Description
chr15 92396546 92396613 CAGE_peak_2_at_SLCO3A1_5end
chr15 92396920 92396987 CAGE_peak_1_at_SLCO3A1_5end
chr15 92397051 92397085 CAGE_peak_3_at_SLCO3A1_5end
chr15 92397528 92397544 CAGE_peak_10_at_SLCO3A1_5end
chr15 92484543 92484569 CAGE_peak_6_at_SLCO3A1_5end
chr15 92484587 92484596 CAGE_peak_14_at_SLCO3A1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr15 GH15I092118 92118059 92119205 0.58 [{'connected_gene': 'ST8SIA2', 'score': 10.3}, {'connected_gene': 'GC15P092170', 'score': 0.23}, {'connected_gene': 'SLCO3A1', 'score': 0.07}]
chr15 GH15I091893 91893848 91897476 0.8 [{'connected_gene': 'ST8SIA2', 'score': 1.21}, {'connected_gene': 'SLCO3A1', 'score': 0.26}, {'connected_gene': 'GC15P092170', 'score': 0.06}]
chr15 GH15I092098 92098971 92099120 0.49 [{'connected_gene': 'ST8SIA2', 'score': 10.72}, {'connected_gene': 'GC15P092170', 'score': 0.19}, {'connected_gene': 'SLCO3A1', 'score': 0.07}]
chr15 GH15I092097 92097631 92097860 0.62 [{'connected_gene': 'ST8SIA2', 'score': 10.72}, {'connected_gene': 'GC15P092170', 'score': 0.19}, {'connected_gene': 'SLCO3A1', 'score': 0.07}]
chr15 GH15I092095 92095368 92096601 0.71 [{'connected_gene': 'ST8SIA2', 'score': 10.72}, {'connected_gene': 'SLCO3A1', 'score': 10.32}, {'connected_gene': 'GC15P092170', 'score': 0.19}]
chr15 GH15I092102 92102191 92102340 0.43 [{'connected_gene': 'ST8SIA2', 'score': 10.72}, {'connected_gene': 'GC15P092170', 'score': 0.2}, {'connected_gene': 'SLCO3A1', 'score': 0.07}]
chr15 GH15I092103 92102411 92102560 0.43 [{'connected_gene': 'ST8SIA2', 'score': 10.72}, {'connected_gene': 'GC15P092170', 'score': 0.2}, {'connected_gene': 'SLCO3A1', 'score': 0.07}]
chr15 GH15I091750 91750231 91750405 0.51 [{'connected_gene': 'HMGN1P38', 'score': 14.94}, {'connected_gene': 'UNC45A', 'score': 13.68}, {'connected_gene': 'VPS33B', 'score': 10.59}, {'connected_gene': 'LOC100421632', 'score': 0.44}, {'connected_gene': 'SLCO3A1', 'score': 0.15}]
chr15 GH15I091468 91468660 91470916 1.2 [{'connected_gene': 'MAN2A2', 'score': 4.36}, {'connected_gene': 'VPS33B', 'score': 1.92}, {'connected_gene': 'SLCO3A1', 'score': 1.87}, {'connected_gene': 'GC15P091451', 'score': 0.37}, {'connected_gene': 'CRAT37', 'score': 0.21}, {'connected_gene': 'ENSG00000258954', 'score': 0.21}]
chr15 GH15I091858 91857261 91857635 0.88 [{'connected_gene': 'SLCO3A1', 'score': 11.96}, {'connected_gene': 'UNC45A', 'score': 10.99}, {'connected_gene': 'GC15P092170', 'score': 0.06}]
chr15 GH15I091411 91411757 91411793 0.22 [{'connected_gene': 'SLCO3A1', 'score': 4.1}, {'connected_gene': 'CRAT37', 'score': 0.77}, {'connected_gene': 'GC15P091451', 'score': 0.28}]
chr15 GH15I091430 91430115 91430285 0.52 [{'connected_gene': 'SLCO3A1', 'score': 7.18}, {'connected_gene': 'CRAT37', 'score': 0.34}, {'connected_gene': 'GC15P091451', 'score': 0.34}]
chr15 GH15I091849 91849791 91849940 0.72 [{'connected_gene': 'SLCO3A1', 'score': 0.77}, {'connected_gene': 'LOC100421632', 'score': 0.14}]
chr15 GH15I091851 91851666 91855412 2.09 [{'connected_gene': 'SLCO3A1', 'score': 558.37}, {'connected_gene': 'LOC100421632', 'score': 0.14}]
chr15 GH15I091844 91844668 91848272 0.31 [{'connected_gene': 'SLCO3A1', 'score': 4.97}, {'connected_gene': 'LOC100421632', 'score': 0.15}]
chr15 GH15I091850 91850487 91851076 0.31 [{'connected_gene': 'SLCO3A1', 'score': 6.79}, {'connected_gene': 'LOC100421632', 'score': 0.14}]
chr15 GH15I091962 91962401 91962600 0.2 [{'connected_gene': 'SLCO3A1', 'score': 0.14}, {'connected_gene': 'GC15P092170', 'score': 0.08}]
chr15 GH15I091939 91939802 91944897 1.6 [{'connected_gene': 'SLCO3A1', 'score': 32.28}, {'connected_gene': 'GC15P092170', 'score': 0.07}]
chr15 GH15I091920 91920802 91923199 1.13 [{'connected_gene': 'SLCO3A1', 'score': 24.55}, {'connected_gene': 'GC15P092170', 'score': 0.07}]
chr15 GH15I092071 92071005 92071687 0.7 [{'connected_gene': 'SLCO3A1', 'score': 10.33}, {'connected_gene': 'GC15P092170', 'score': 0.15}]
chr15 GH15I091897 91897500 91897752 0.4 [{'connected_gene': 'SLCO3A1', 'score': 0.26}, {'connected_gene': 'GC15P092170', 'score': 0.06}]
chr15 GH15I091881 91881083 91882575 0.43 [{'connected_gene': 'SLCO3A1', 'score': 0.31}, {'connected_gene': 'GC15P092170', 'score': 0.06}]
chr15 GH15I092028 92028691 92030093 0.38 [{'connected_gene': 'SLCO3A1', 'score': 14.08}, {'connected_gene': 'GC15P092170', 'score': 0.11}]
chr15 GH15I091872 91872002 91872999 0.4 [{'connected_gene': 'SLCO3A1', 'score': 4.84}, {'connected_gene': 'GC15P092170', 'score': 0.06}]
chr15 GH15I091862 91862397 91864590 0.2 [{'connected_gene': 'SLCO3A1', 'score': 5.76}, {'connected_gene': 'GC15P092170', 'score': 0.06}]
chr15 GH15I092131 92131123 92131264 0.25 [{'connected_gene': 'SLCO3A1', 'score': 11.56}, {'connected_gene': 'GC15P092170', 'score': 0.28}]
chr15 GH15I091964 91964033 91967034 1.14 [{'connected_gene': 'SLCO3A1', 'score': 11.03}, {'connected_gene': 'GC15P092170', 'score': 0.08}]
chr15 GH15I091882 91882635 91884009 0.2 [{'connected_gene': 'SLCO3A1', 'score': 0.31}, {'connected_gene': 'GC15P092170', 'score': 0.06}]
chr15 GH15I091961 91961030 91961754 0.38 [{'connected_gene': 'SLCO3A1', 'score': 0.14}, {'connected_gene': 'GC15P092170', 'score': 0.08}]
chr15 GH15I091921 91920201 91920400 0.4 [{'connected_gene': 'SLCO3A1', 'score': 0.2}, {'connected_gene': 'GC15P092170', 'score': 0.07}]
chr15 GH15I091890 91890023 91891684 0.58 [{'connected_gene': 'SLCO3A1', 'score': 6.07}, {'connected_gene': 'GC15P092170', 'score': 0.06}]
chr15 GH15I091856 91856071 91856260 0.86 [{'connected_gene': 'SLCO3A1', 'score': 0.77}, {'connected_gene': 'GC15P092170', 'score': 0.06}]
chr15 GH15I091967 91967329 91968588 0.43 [{'connected_gene': 'SLCO3A1', 'score': 11.03}, {'connected_gene': 'GC15P092170', 'score': 0.08}]
chr15 GH15I091993 91993401 91993600 0.2 [{'connected_gene': 'SLCO3A1', 'score': 0.12}, {'connected_gene': 'GC15P092170', 'score': 0.1}]
chr15 GH15I091871 91871127 91871652 0.2 [{'connected_gene': 'SLCO3A1', 'score': 0.37}, {'connected_gene': 'GC15P092170', 'score': 0.06}]
chr15 GH15I091936 91936601 91937000 0.4 [{'connected_gene': 'SLCO3A1', 'score': 0.18}, {'connected_gene': 'GC15P092170', 'score': 0.07}]
chr15 GH15I091978 91978531 91984325 0.43 [{'connected_gene': 'SLCO3A1', 'score': 0.13}, {'connected_gene': 'GC15P092170', 'score': 0.09}]
chr15 GH15I091869 91869422 91870261 0.2 [{'connected_gene': 'SLCO3A1', 'score': 0.37}, {'connected_gene': 'GC15P092170', 'score': 0.06}]
chr15 GH15I091887 91887401 91887600 0.51 [{'connected_gene': 'SLCO3A1', 'score': 0.29}, {'connected_gene': 'GC15P092170', 'score': 0.06}]
chr15 GH15I091928 91928044 91930596 0.38 [{'connected_gene': 'SLCO3A1', 'score': 11.81}, {'connected_gene': 'GC15P092170', 'score': 0.07}]
chr15 GH15I091855 91855871 91856020 0.9 [{'connected_gene': 'SLCO3A1', 'score': 0.77}, {'connected_gene': 'GC15P092170', 'score': 0.06}]
chr15 GH15I091864 91864598 91868936 1.07 [{'connected_gene': 'SLCO3A1', 'score': 6.38}, {'connected_gene': 'GC15P092170', 'score': 0.06}]
chr15 GH15I091955 91955611 91956941 0.94 [{'connected_gene': 'SLCO3A1', 'score': 0.15}, {'connected_gene': 'GC15P092170', 'score': 0.08}]
chr15 GH15I091952 91952142 91955331 0.85 [{'connected_gene': 'SLCO3A1', 'score': 0.15}, {'connected_gene': 'GC15P092170', 'score': 0.08}]
chr15 GH15I091946 91946002 91949398 1.43 [{'connected_gene': 'SLCO3A1', 'score': 11.48}, {'connected_gene': 'GC15P092170', 'score': 0.07}]
chr15 GH15I092092 92092818 92093052 0.24 [{'connected_gene': 'SLCO3A1', 'score': 8.17}, {'connected_gene': 'GC15P092170', 'score': 0.18}]
chr15 GH15I091898 91898875 91899502 0.2 [{'connected_gene': 'SLCO3A1', 'score': 0.25}, {'connected_gene': 'GC15P092170', 'score': 0.06}]
chr15 GH15I091857 91857653 91858172 1.28 [{'connected_gene': 'SLCO3A1', 'score': 13.55}, {'connected_gene': 'GC15P092170', 'score': 0.06}]
chr15 GH15I091949 91949989 91951510 0.96 [{'connected_gene': 'SLCO3A1', 'score': 0.15}, {'connected_gene': 'GC15P092170', 'score': 0.07}]
chr15 GH15I092074 92074811 92074960 0.38 [{'connected_gene': 'SLCO3A1', 'score': 11.28}, {'connected_gene': 'GC15P092170', 'score': 0.15}]
chr15 GH15I091937 91937201 91937400 0.4 [{'connected_gene': 'SLCO3A1', 'score': 0.18}, {'connected_gene': 'GC15P092170', 'score': 0.07}]
chr15 GH15I091874 91874874 91877077 0.38 [{'connected_gene': 'SLCO3A1', 'score': 0.34}, {'connected_gene': 'GC15P092170', 'score': 0.06}]
chr15 GH15I091973 91973677 91975157 0.8 [{'connected_gene': 'SLCO3A1', 'score': 0.13}, {'connected_gene': 'GC15P092170', 'score': 0.08}]
chr15 GH15I091969 91969712 91970764 0.6 [{'connected_gene': 'SLCO3A1', 'score': 0.13}, {'connected_gene': 'GC15P092170', 'score': 0.08}]
chr15 GH15I091917 91917801 91918200 0.4 [{'connected_gene': 'SLCO3A1', 'score': 0.21}, {'connected_gene': 'GC15P092170', 'score': 0.07}]
chr15 GH15I091923 91923842 91925089 0.2 [{'connected_gene': 'SLCO3A1', 'score': 11.36}, {'connected_gene': 'GC15P092170', 'score': 0.07}]
chr15 GH15I091938 91938172 91938500 0.28 [{'connected_gene': 'SLCO3A1', 'score': 4.44}, {'connected_gene': 'GC15P092170', 'score': 0.07}]
chr15 GH15I091926 91926671 91927680 0.83 [{'connected_gene': 'SLCO3A1', 'score': 11.82}, {'connected_gene': 'GC15P092170', 'score': 0.07}]
chr15 GH15I091891 91891719 91892953 0.2 [{'connected_gene': 'SLCO3A1', 'score': 0.28}, {'connected_gene': 'GC15P092170', 'score': 0.06}]
chr15 GH15I091925 91925327 91926269 0.2 [{'connected_gene': 'SLCO3A1', 'score': 11.36}, {'connected_gene': 'GC15P092170', 'score': 0.07}]
chr15 GH15I091909 91909881 91914587 0.31 [{'connected_gene': 'SLCO3A1', 'score': 0.22}, {'connected_gene': 'GC15P092170', 'score': 0.07}]
chr15 GH15I091927 91927691 91927840 0.51 [{'connected_gene': 'SLCO3A1', 'score': 11.82}, {'connected_gene': 'GC15P092170', 'score': 0.07}]
chr15 GH15I092011 92011601 92013089 0.63 [{'connected_gene': 'SLCO3A1', 'score': 5.49}, {'connected_gene': 'GC15P092170', 'score': 0.1}]
chr15 GH15I091968 91968601 91968800 0.63 [{'connected_gene': 'SLCO3A1', 'score': 0.13}, {'connected_gene': 'GC15P092170', 'score': 0.08}]
chr15 GH15I091914 91914659 91915785 0.49 [{'connected_gene': 'SLCO3A1', 'score': 0.21}, {'connected_gene': 'GC15P092170', 'score': 0.07}]
chr15 GH15I091919 91919001 91919800 0.4 [{'connected_gene': 'SLCO3A1', 'score': 0.2}, {'connected_gene': 'GC15P092170', 'score': 0.07}]
chr15 GH15I091860 91860601 91862000 1.24 [{'connected_gene': 'SLCO3A1', 'score': 11.02}, {'connected_gene': 'GC15P092170', 'score': 0.06}]
chr15 GH15I091908 91908400 91908801 0.4 [{'connected_gene': 'SLCO3A1', 'score': 4.64}, {'connected_gene': 'GC15P092170', 'score': 0.07}]
chr15 GH15I091975 91975600 91975800 0.58 [{'connected_gene': 'SLCO3A1', 'score': 0.13}, {'connected_gene': 'GC15P092170', 'score': 0.08}]
chr15 GH15I092069 92069093 92070999 1.24 [{'connected_gene': 'SLCO3A1', 'score': 14.66}, {'connected_gene': 'GC15P092170', 'score': 0.15}]
chr15 GH15I092077 92077451 92077620 0.73 [{'connected_gene': 'GC15P092170', 'score': 0.16}, {'connected_gene': 'SLCO3A1', 'score': 0.07}]
chr15 GH15I092159 92159671 92161636 0.69 [{'connected_gene': 'GC15P092170', 'score': 0.39}, {'connected_gene': 'ENSG00000260661', 'score': 0.09}, {'connected_gene': 'SLCO3A1', 'score': 0.06}]
chr15 GH15I092091 92091251 92091400 0.56 [{'connected_gene': 'GC15P092170', 'score': 0.18}, {'connected_gene': 'SLCO3A1', 'score': 0.07}]
chr15 GH15I092021 92021000 92021201 0.2 [{'connected_gene': 'GC15P092170', 'score': 0.11}, {'connected_gene': 'SLCO3A1', 'score': 0.1}]
chr15 GH15I092082 92082371 92082540 0.68 [{'connected_gene': 'GC15P092170', 'score': 0.17}, {'connected_gene': 'SLCO3A1', 'score': 0.07}]
chr15 GH15I092121 92121191 92121320 0.43 [{'connected_gene': 'GC15P092170', 'score': 0.25}, {'connected_gene': 'SLCO3A1', 'score': 0.06}]
chr15 GH15I092157 92157742 92159519 0.63 [{'connected_gene': 'GC15P092170', 'score': 0.39}, {'connected_gene': 'ENSG00000260661', 'score': 0.09}, {'connected_gene': 'SLCO3A1', 'score': 0.06}]
chr15 GH15I092124 92124171 92124380 0.38 [{'connected_gene': 'GC15P092170', 'score': 0.25}, {'connected_gene': 'SLCO3A1', 'score': 0.06}]
chr15 GH15I092163 92163657 92165757 1.06 [{'connected_gene': 'ENSG00000258761', 'score': 0.44}, {'connected_gene': 'GC15P092170', 'score': 0.44}, {'connected_gene': 'ENSG00000260661', 'score': 0.1}, {'connected_gene': 'SLCO3A1', 'score': 0.06}]