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
ENST00000473414 [[149456256, 149459505], [149468464, 149468638], [149469189, 149469272], [149469996, 149470074], [149470164, 149470286]] [[149459307, 149459505], [149468464, 149468638], [149469189, 149469272], [149469996, 149470074], [149470164, 149470231]]
ENST00000491617 [[149459176, 149459505], [149468043, 149468169], [149468464, 149468638], [149469189, 149469272], [149469996, 149470074], [149470164, 149470259]] [[149468163, 149468169], [149468464, 149468638], [149469189, 149469272], [149469996, 149470074], [149470164, 149470231]]
ENST00000463077 [[149459212, 149459505], [149468464, 149468638], [149469189, 149469272], [149469996, 149470185]] None
ENST00000483708 [[149459361, 149459505], [149468464, 149468638], [149469109, 149469272], [149469996, 149470074], [149470164, 149470237]] [[149468580, 149468638], [149469109, 149469272], [149469996, 149470074], [149470164, 149470231]]
ENST00000469896 [[149468289, 149468638], [149469189, 149469272], [149469996, 149470074], [149470164, 149470282]] None
ENST00000483146 [[149468573, 149468638], [149469189, 149469845]] None
ENST00000490008 [[149469597, 149470074], [149470164, 149470276]] None
NR_135149 [[149456256, 149459505], [149468464, 149468638], [149469109, 149469272], [149469996, 149470074], [149470164, 149470286]] None
NM_016094 [[149456256, 149459505], [149468464, 149468638], [149469189, 149469272], [149469996, 149470074], [149470164, 149470286]] [[149459307, 149459505], [149468464, 149468638], [149469189, 149469272], [149469996, 149470074], [149470164, 149470231]]
Promoter
Chrom Start End Description
chr3 149470229 149470290 CAGE_peak_1_at_COMMD2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I149128 149128800 149133225 2.23 [{'connected_gene': 'HPS3', 'score': 550.77}, {'connected_gene': 'COMMD2', 'score': 14.18}, {'connected_gene': 'HLTF', 'score': 10.52}, {'connected_gene': 'TM4SF18', 'score': 10.28}, {'connected_gene': 'CPHL1P', 'score': 5.47}, {'connected_gene': 'GC03M149173', 'score': 0.26}]
chr3 GH03I150468 150468224 150471416 1.11 [{'connected_gene': 'EIF2A', 'score': 11.73}, {'connected_gene': 'COMMD2', 'score': 9.68}, {'connected_gene': 'GC03P150463', 'score': 0.44}, {'connected_gene': 'GC03M150475', 'score': 0.44}]
chr3 GH03I150543 150543913 150548628 2.28 [{'connected_gene': 'EIF2A', 'score': 596.96}, {'connected_gene': 'SERP1', 'score': 557.42}, {'connected_gene': 'COMMD2', 'score': 9.68}, {'connected_gene': 'SELENOT', 'score': 5.09}, {'connected_gene': 'GC03M150475', 'score': 0.19}]
chr3 GH03I149488 149488194 149491355 0.52 [{'connected_gene': 'TM4SF4', 'score': 9.45}, {'connected_gene': 'COMMD2', 'score': 8.78}, {'connected_gene': 'LOC100421817', 'score': 0.77}]
chr3 GH03I149471 149471300 149476067 1.74 [{'connected_gene': 'TM4SF4', 'score': 564.12}, {'connected_gene': 'COMMD2', 'score': 8.22}, {'connected_gene': 'ENSG00000239408', 'score': 0.44}]
chr3 GH03I150598 150598167 150607003 2.51 [{'connected_gene': 'SELENOT', 'score': 556.03}, {'connected_gene': 'SERP1', 'score': 550.77}, {'connected_gene': 'EIF2A', 'score': 52.33}, {'connected_gene': 'COMMD2', 'score': 11.96}, {'connected_gene': 'TSC22D2', 'score': 11.26}, {'connected_gene': 'ERICH6', 'score': 10.68}, {'connected_gene': 'ERICH6-AS1', 'score': 10.68}]
chr3 GH03I150344 150344175 150352560 1.28 [{'connected_gene': 'COMMD2', 'score': 15.67}, {'connected_gene': 'TSC22D2', 'score': 15.11}, {'connected_gene': 'EIF2A', 'score': 4.99}, {'connected_gene': 'P2RY14', 'score': 4.62}, {'connected_gene': 'LINC01214', 'score': 0.34}]
chr3 GH03I150375 150375576 150377115 1.3 [{'connected_gene': 'COMMD2', 'score': 14.18}, {'connected_gene': 'EIF2A', 'score': 11.95}, {'connected_gene': 'TSC22D2', 'score': 11.38}, {'connected_gene': 'LINC01214', 'score': 0.23}]
chr3 GH03I149751 149751343 149753261 2.1 [{'connected_gene': 'COMMD2', 'score': 564.92}, {'connected_gene': 'EIF2A', 'score': 20.73}, {'connected_gene': 'WWTR1', 'score': 0.37}]
chr3 GH03I149506 149506039 149508799 1.38 [{'connected_gene': 'COMMD2', 'score': 20.54}, {'connected_gene': 'WWTR1', 'score': 19.44}, {'connected_gene': 'TM4SF4', 'score': 11.88}, {'connected_gene': 'WWTR1-AS1', 'score': 10.31}, {'connected_gene': 'RNF13', 'score': 3.91}, {'connected_gene': 'LOC100421817', 'score': 0.39}, {'connected_gene': 'RNU6-1098P', 'score': 0.37}]
chr3 GH03I149662 149662547 149664743 0.72 [{'connected_gene': 'COMMD2', 'score': 14.92}, {'connected_gene': 'WWTR1', 'score': 9.77}, {'connected_gene': 'RNU6-1098P', 'score': 9.64}, {'connected_gene': 'WWTR1-AS1', 'score': 4.73}, {'connected_gene': 'PIR37939', 'score': 0.39}]
chr3 GH03I149706 149706392 149708031 0.31 [{'connected_gene': 'COMMD2', 'score': 15.46}, {'connected_gene': 'WWTR1', 'score': 11.26}, {'connected_gene': 'PIR37939', 'score': 0.29}]
chr3 GH03I149678 149678474 149678643 0.64 [{'connected_gene': 'COMMD2', 'score': 16.05}, {'connected_gene': 'PIR37939', 'score': 0.77}, {'connected_gene': 'WWTR1', 'score': 0.22}]
chr3 GH03I149646 149646177 149646823 0.93 [{'connected_gene': 'COMMD2', 'score': 12.53}, {'connected_gene': 'RNU6-1098P', 'score': 9.99}, {'connected_gene': 'WWTR1', 'score': 9.89}, {'connected_gene': 'WWTR1-IT1', 'score': 0.77}, {'connected_gene': 'GC03P149613', 'score': 0.29}]
chr3 GH03I149640 149640116 149640765 0.58 [{'connected_gene': 'COMMD2', 'score': 5.88}, {'connected_gene': 'WWTR1-IT1', 'score': 0.44}, {'connected_gene': 'GC03P149613', 'score': 0.31}, {'connected_gene': 'WWTR1', 'score': 0.15}]
chr3 GH03I149633 149633707 149635226 0.9 [{'connected_gene': 'COMMD2', 'score': 5.96}, {'connected_gene': 'WWTR1-IT1', 'score': 0.37}, {'connected_gene': 'GC03P149613', 'score': 0.34}, {'connected_gene': 'WWTR1', 'score': 0.15}]
chr3 GH03I149628 149628275 149633038 0.31 [{'connected_gene': 'COMMD2', 'score': 6.82}, {'connected_gene': 'WWTR1-IT1', 'score': 0.37}, {'connected_gene': 'GC03P149613', 'score': 0.37}, {'connected_gene': 'WWTR1', 'score': 0.14}]
chr3 GH03I149793 149792544 149792603 0.5 [{'connected_gene': 'ANKUB1', 'score': 550.1}, {'connected_gene': 'COMMD2', 'score': 10.88}, {'connected_gene': 'RNU6-507P', 'score': 0.39}, {'connected_gene': 'RNF13', 'score': 0.37}]
chr3 GH03I149468 149468541 149469801 0.89 [{'connected_gene': 'WWTR1', 'score': 13.93}, {'connected_gene': 'TM4SF4', 'score': 10.79}, {'connected_gene': 'WWTR1-AS1', 'score': 9.21}, {'connected_gene': 'COMMD2', 'score': 8.38}, {'connected_gene': 'TMEM183B', 'score': 4.26}, {'connected_gene': 'ENSG00000239408', 'score': 0.77}]
chr3 GH03I149644 149644010 149644927 0.43 [{'connected_gene': 'WWTR1', 'score': 15.17}, {'connected_gene': 'RNU6-1098P', 'score': 9.99}, {'connected_gene': 'COMMD2', 'score': 5.55}, {'connected_gene': 'WWTR1-IT1', 'score': 0.44}, {'connected_gene': 'GC03P149613', 'score': 0.29}]
chr3 GH03I149613 149613982 149622404 1.51 [{'connected_gene': 'WWTR1', 'score': 15.03}, {'connected_gene': 'WWTR1-AS1', 'score': 11.77}, {'connected_gene': 'COMMD2', 'score': 4.45}, {'connected_gene': 'TM4SF18', 'score': 1.99}, {'connected_gene': 'TM4SF1', 'score': 1.37}, {'connected_gene': 'GC03P149613', 'score': 0.44}, {'connected_gene': 'WWTR1-IT1', 'score': 0.29}]
chr3 GH03I149568 149568903 149570260 0.63 [{'connected_gene': 'WWTR1', 'score': 18.55}, {'connected_gene': 'WWTR1-AS1', 'score': 11.66}, {'connected_gene': 'RNU6-1098P', 'score': 10.97}, {'connected_gene': 'COMMD2', 'score': 10.83}, {'connected_gene': 'GC03P149613', 'score': 0.26}]
chr3 GH03I149701 149701196 149704749 0.72 [{'connected_gene': 'WWTR1', 'score': 11.17}, {'connected_gene': 'WWTR1-AS1', 'score': 11.12}, {'connected_gene': 'RNU6-1098P', 'score': 10.53}, {'connected_gene': 'COMMD2', 'score': 4.69}, {'connected_gene': 'PIR37939', 'score': 0.31}]
chr3 GH03I149811 149811919 149817803 2.33 [{'connected_gene': 'RNF13', 'score': 573.49}, {'connected_gene': 'PFN2', 'score': 25.26}, {'connected_gene': 'COMMD2', 'score': 16.93}, {'connected_gene': 'TSC22D2', 'score': 11.2}, {'connected_gene': 'TMEM183B', 'score': 7.36}, {'connected_gene': 'RNU6-720P', 'score': 0.15}, {'connected_gene': 'ANKUB1', 'score': 0.1}]
chr3 GH03I149500 149500698 149502779 0.58 [{'connected_gene': 'RNU6-1098P', 'score': 11.27}, {'connected_gene': 'COMMD2', 'score': 10.24}, {'connected_gene': 'TM4SF4', 'score': 7.23}, {'connected_gene': 'TMEM183B', 'score': 5.6}, {'connected_gene': 'TSC22D2', 'score': 4.99}, {'connected_gene': 'LOC100421817', 'score': 0.44}]
chr3 GH03I149671 149671114 149671263 0.56 [{'connected_gene': 'RNU6-1098P', 'score': 10.63}, {'connected_gene': 'COMMD2', 'score': 7.92}, {'connected_gene': 'PIR37939', 'score': 0.77}, {'connected_gene': 'WWTR1-AS1', 'score': 0.39}, {'connected_gene': 'WWTR1', 'score': 0.2}]
chr3 GH03I149566 149566218 149567713 0.51 [{'connected_gene': 'RNU6-1098P', 'score': 11.69}, {'connected_gene': 'WWTR1-AS1', 'score': 11.65}, {'connected_gene': 'WWTR1', 'score': 11.59}, {'connected_gene': 'COMMD2', 'score': 10.83}, {'connected_gene': 'TM4SF1', 'score': 5.1}, {'connected_gene': 'GC03P149613', 'score': 0.25}]
chr3 GH03I149649 149649864 149652068 0.38 [{'connected_gene': 'WWTR1-IT1', 'score': 550.77}, {'connected_gene': 'COMMD2', 'score': 12.04}, {'connected_gene': 'RNU6-1098P', 'score': 9.99}, {'connected_gene': 'WWTR1', 'score': 9.9}, {'connected_gene': 'WWTR1-AS1', 'score': 0.44}]
chr3 GH03I149648 149648094 149649693 0.83 [{'connected_gene': 'WWTR1-IT1', 'score': 550.77}, {'connected_gene': 'COMMD2', 'score': 12.87}, {'connected_gene': 'RNU6-1098P', 'score': 9.99}, {'connected_gene': 'WWTR1', 'score': 9.9}, {'connected_gene': 'GC03P149613', 'score': 0.28}]
chr3 GH03I149493 149493463 149494443 1.06 [{'connected_gene': 'LOC100421817', 'score': 550.77}, {'connected_gene': 'COMMD2', 'score': 10.3}, {'connected_gene': 'TM4SF4', 'score': 6.26}]
chr3 GH03I149652 149652894 149660695 2.22 [{'connected_gene': 'WWTR1-AS1', 'score': 560.07}, {'connected_gene': 'WWTR1', 'score': 559.56}, {'connected_gene': 'COMMD2', 'score': 12.03}, {'connected_gene': 'WWTR1-IT1', 'score': 0.44}]
chr3 GH03I150406 150406536 150416120 2.3 [{'connected_gene': 'GC03M150408', 'score': 550.77}, {'connected_gene': 'TSC22D2', 'score': 550.77}, {'connected_gene': 'WWTR1', 'score': 11.61}, {'connected_gene': 'COMMD2', 'score': 11.56}, {'connected_gene': 'WWTR1-IT1', 'score': 10.58}, {'connected_gene': 'EIF2A', 'score': 5.97}, {'connected_gene': 'NPM1P29', 'score': 5.25}, {'connected_gene': 'GC03P150463', 'score': 0.23}]
chr3 GH03I149381 149381216 149392107 1.77 [{'connected_gene': 'ENSG00000243885', 'score': 550.77}, {'connected_gene': 'TM4SF4', 'score': 12.44}, {'connected_gene': 'TM4SF18', 'score': 10.77}, {'connected_gene': 'TM4SF1', 'score': 10.28}, {'connected_gene': 'COMMD2', 'score': 1.48}, {'connected_gene': 'TM4SF1-AS1', 'score': 0.44}, {'connected_gene': 'LOC105374151', 'score': 0.37}]
chr3 GH03I149675 149675108 149677036 0.31 [{'connected_gene': 'PIR37939', 'score': 550.77}, {'connected_gene': 'COMMD2', 'score': 16.17}, {'connected_gene': 'WWTR1', 'score': 0.21}]
chr3 GH03I149465 149465235 149467810 0.86 [{'connected_gene': 'ENSG00000241929', 'score': 550.77}, {'connected_gene': 'ENSG00000239408', 'score': 550.77}, {'connected_gene': 'WWTR1', 'score': 14.09}, {'connected_gene': 'WWTR1-AS1', 'score': 9.21}, {'connected_gene': 'COMMD2', 'score': 8.32}, {'connected_gene': 'TM4SF4', 'score': 0.44}]