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
ENST00000394670 [[30677135, 30677345], [30678804, 30678931], [30685521, 30685660], [30687616, 30687784], [30687910, 30687986], [30688486, 30688534], [30689932, 30690003], [30692348, 30692506], [30693683, 30693776], [30694790, 30695033], [30696313, 30696473], [30696617, 30708905]] [[30677304, 30677345], [30678804, 30678931], [30685521, 30685660], [30687616, 30687784], [30687910, 30687986], [30688486, 30688534], [30689932, 30690003], [30692348, 30692506], [30693683, 30693776], [30694790, 30695033], [30696313, 30696473], [30696617, 30696778]]
ENST00000321233 [[30677150, 30677345], [30678804, 30678931], [30685521, 30685660], [30687616, 30687784], [30687910, 30687986], [30689932, 30690003], [30692348, 30692506], [30693683, 30693776], [30694790, 30695033], [30696313, 30696473], [30696617, 30697470]] [[30677304, 30677345], [30678804, 30678931], [30685521, 30685660], [30687616, 30687784], [30687910, 30687986], [30689932, 30690003], [30692348, 30692506], [30693683, 30693776], [30694790, 30695033], [30696313, 30696473], [30696617, 30696778]]
ENST00000394673 [[30677156, 30677345], [30678804, 30678931], [30685521, 30685660], [30687616, 30687784], [30687910, 30687986], [30688486, 30688534], [30689932, 30690003], [30692348, 30692506], [30694790, 30695033], [30696313, 30696473], [30696617, 30697362]] [[30677304, 30677345], [30678804, 30678931], [30685521, 30685660], [30687616, 30687784], [30687910, 30687986], [30688486, 30688534], [30689932, 30690003], [30692348, 30692506], [30694790, 30695033], [30696313, 30696473], [30696617, 30696778]]
ENST00000341711 [[30677156, 30677345], [30678804, 30678902], [30687745, 30687784], [30687910, 30687986], [30688486, 30688534], [30689932, 30690003], [30692348, 30692506], [30693683, 30693776], [30694790, 30695033], [30696313, 30696473], [30696617, 30697467]] [[30677304, 30677345], [30678804, 30678902], [30687745, 30687784], [30687910, 30687986], [30688486, 30688534], [30689932, 30690003], [30692348, 30692506], [30693683, 30693776], [30694790, 30695033], [30696313, 30696473], [30696617, 30696778]]
ENST00000579634 [[30677182, 30677371], [30678757, 30678931], [30685521, 30685660], [30687616, 30687694]] [[30678925, 30678931], [30685521, 30685660], [30687616, 30687694]]
ENST00000580759 [[30677183, 30677345], [30678794, 30678931], [30685521, 30685660], [30687616, 30687750]] [[30678925, 30678931], [30685521, 30685660], [30687616, 30687750]]
ENST00000342555 [[30677193, 30677345], [30678483, 30678648], [30678761, 30678931], [30685521, 30685660], [30687616, 30687784], [30687910, 30687986], [30688486, 30688534], [30689932, 30690003], [30692348, 30692506], [30693683, 30693776], [30694790, 30695033], [30696313, 30696473], [30696617, 30696879]] [[30678641, 30678648], [30678761, 30678931], [30685521, 30685660], [30687616, 30687784], [30687910, 30687986], [30688486, 30688534], [30689932, 30690003], [30692348, 30692506], [30693683, 30693776], [30694790, 30695033], [30696313, 30696473], [30696617, 30696778]]
ENST00000577908 [[30677198, 30677345], [30678804, 30678931], [30685521, 30685660], [30687616, 30687784], [30687910, 30687986], [30688486, 30688534], [30689932, 30690003], [30692348, 30692506], [30693683, 30693776], [30694790, 30695033], [30696313, 30696473], [30696617, 30696764], [30700417, 30700476], [30704939, 30707975]] [[30677304, 30677345], [30678804, 30678931], [30685521, 30685660], [30687616, 30687784], [30687910, 30687986], [30688486, 30688534], [30689932, 30690003], [30692348, 30692506], [30693683, 30693776], [30694790, 30695033], [30696313, 30696473], [30696617, 30696764], [30700417, 30700428]]
ENST00000394679 [[30677202, 30677345], [30678816, 30678931], [30685521, 30685660], [30687616, 30687784], [30687910, 30687986], [30688486, 30688534], [30689932, 30690003], [30692348, 30692435]] [[30678925, 30678931], [30685521, 30685660], [30687616, 30687784], [30687910, 30687986], [30688486, 30688534], [30689932, 30690003], [30692348, 30692435]]
ENST00000582165 [[30677204, 30677345], [30678761, 30678931], [30685521, 30685660], [30687616, 30687758]] [[30678925, 30678931], [30685521, 30685660], [30687616, 30687758]]
ENST00000577324 [[30677216, 30677345], [30678804, 30678931], [30685521, 30685660], [30687616, 30687784], [30687910, 30688352]] None
ENST00000578918 [[30677926, 30678200], [30678757, 30678931], [30685521, 30685653]] [[30678925, 30678931], [30685521, 30685653]]
ENST00000581531 [[30687769, 30687784], [30687910, 30687986], [30688486, 30688534], [30689932, 30690003], [30692348, 30692506], [30693683, 30693776], [30694790, 30695033], [30696313, 30696473], [30696617, 30696801], [30700417, 30700476], [30704939, 30707392]] [[30687769, 30687784], [30687910, 30687986], [30688486, 30688534], [30689932, 30690003], [30692348, 30692506], [30693683, 30693776], [30694790, 30695033], [30696313, 30696473], [30696617, 30696778]]
ENST00000579416 [[30689743, 30690003], [30692348, 30692484]] None
ENST00000582705 [[30689932, 30690003], [30692348, 30692610]] None
ENST00000584696 [[30693695, 30693776], [30694790, 30695452]] None
ENST00000579810 [[30695850, 30696473], [30696617, 30696801], [30700417, 30700476], [30704939, 30705052]] None
ENST00000584416 [[30699913, 30700476], [30704936, 30705465]] None
NM_003457 [[30677156, 30677345], [30678804, 30678931], [30685521, 30685660], [30687616, 30687784], [30687910, 30687986], [30689932, 30690003], [30692348, 30692506], [30693683, 30693776], [30694790, 30695033], [30696313, 30696473], [30696617, 30697468]] [[30677304, 30677345], [30678804, 30678931], [30685521, 30685660], [30687616, 30687784], [30687910, 30687986], [30689932, 30690003], [30692348, 30692506], [30693683, 30693776], [30694790, 30695033], [30696313, 30696473], [30696617, 30696778]]
NM_001032293 [[30677156, 30677345], [30678804, 30678931], [30685521, 30685660], [30687616, 30687784], [30687910, 30687986], [30688486, 30688534], [30689932, 30690003], [30692348, 30692506], [30694790, 30695033], [30696313, 30696473], [30696617, 30697468]] [[30677304, 30677345], [30678804, 30678931], [30685521, 30685660], [30687616, 30687784], [30687910, 30687986], [30688486, 30688534], [30689932, 30690003], [30692348, 30692506], [30694790, 30695033], [30696313, 30696473], [30696617, 30696778]]
NM_001098507 [[30677156, 30677345], [30678804, 30678931], [30685521, 30685660], [30687616, 30687784], [30687910, 30687986], [30688486, 30688534], [30689932, 30690003], [30692348, 30692506], [30693683, 30693776], [30694790, 30695033], [30696313, 30696473], [30696617, 30697468]] [[30677304, 30677345], [30678804, 30678931], [30685521, 30685660], [30687616, 30687784], [30687910, 30687986], [30688486, 30688534], [30689932, 30690003], [30692348, 30692506], [30693683, 30693776], [30694790, 30695033], [30696313, 30696473], [30696617, 30696778]]
Promoter
Chrom Start End Description
chr17 30677160 30677200 CAGE_peak_1_at_ZNF207_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I032451 32451118 32451402 0.27 [{'connected_gene': 'CDK5R1', 'score': 11.66}, {'connected_gene': 'ZNF207', 'score': 11.5}, {'connected_gene': 'C17orf75', 'score': 10.98}, {'connected_gene': 'MIR632', 'score': 10.34}, {'connected_gene': 'GC17P032446', 'score': 0.77}, {'connected_gene': 'PSMD11', 'score': 0.44}, {'connected_gene': 'ENSG00000202100', 'score': 0.39}, {'connected_gene': 'GC17M032464', 'score': 0.39}, {'connected_gene': 'GC17M032351', 'score': 0.31}]
chr17 GH17I032348 32348589 32352670 2.3 [{'connected_gene': 'ZNF207', 'score': 605.36}, {'connected_gene': 'C17orf75', 'score': 569.36}, {'connected_gene': 'GC17P032358', 'score': 550.77}, {'connected_gene': 'MIR632', 'score': 550.77}, {'connected_gene': 'PIR54391', 'score': 550.77}, {'connected_gene': 'GC17M032350', 'score': 550.77}, {'connected_gene': 'SUZ12', 'score': 53.73}, {'connected_gene': 'UTP6', 'score': 53.56}, {'connected_gene': 'PSMD11', 'score': 28.28}, {'connected_gene': 'LRRC37B', 'score': 18.57}, {'connected_gene': 'RHBDL3', 'score': 12.14}, {'connected_gene': 'MYO1D', 'score': 10.03}, {'connected_gene': 'ENSG00000265794', 'score': 0.31}, {'connected_gene': 'ENSG00000274341', 'score': 0.22}, {'connected_gene': 'GC17M032351', 'score': 0.13}]
chr17 GH17I031752 31752407 31755526 1.13 [{'connected_gene': 'ZNF207', 'score': 4.78}, {'connected_gene': 'LOC100420482', 'score': 0.44}, {'connected_gene': 'RNU6-1134P', 'score': 0.26}]
chr17 GH17I032352 32352682 32352786 0.43 [{'connected_gene': 'ZNF207', 'score': 0.77}, {'connected_gene': 'ENSG00000265794', 'score': 0.31}, {'connected_gene': 'ENSG00000274341', 'score': 0.22}, {'connected_gene': 'GC17M032351', 'score': 0.13}]
chr17 GH17I032369 32369877 32370075 0.4 [{'connected_gene': 'ZNF207', 'score': 0.37}, {'connected_gene': 'ENSG00000274341', 'score': 0.28}, {'connected_gene': 'GC17M032351', 'score': 0.14}]
chr17 GH17I033011 33011714 33013624 0.79 [{'connected_gene': 'ZNF207', 'score': 17.66}, {'connected_gene': 'GC17M033000', 'score': 0.39}, {'connected_gene': 'ENSG00000264598', 'score': 0.26}]
chr17 GH17I032340 32340990 32343150 2.12 [{'connected_gene': 'C17orf75', 'score': 569.43}, {'connected_gene': 'ZNF207', 'score': 67.17}, {'connected_gene': 'UTP6', 'score': 64.43}, {'connected_gene': 'SUZ12', 'score': 61.44}, {'connected_gene': 'RHBDL3', 'score': 12.15}, {'connected_gene': 'TMEM98', 'score': 11.24}, {'connected_gene': 'SH3GL1P1', 'score': 10.99}, {'connected_gene': 'PSMD11', 'score': 10.45}, {'connected_gene': 'MYO1D', 'score': 10.03}, {'connected_gene': 'OOSP1P2', 'score': 0.77}, {'connected_gene': 'ENSG00000265139', 'score': 0.39}, {'connected_gene': 'ENSG00000265794', 'score': 0.37}]
chr17 GH17I032295 32295132 32295945 0.2 [{'connected_gene': 'C17orf75', 'score': 17.89}, {'connected_gene': 'RHBDL3', 'score': 12.51}, {'connected_gene': 'ZNF207', 'score': 11.12}, {'connected_gene': 'MIR632', 'score': 11.12}, {'connected_gene': 'LOC105371730', 'score': 10.3}, {'connected_gene': 'LOC105371732', 'score': 0.39}, {'connected_gene': 'PIR39108', 'score': 0.31}]
chr17 GH17I032443 32443800 32447126 2.06 [{'connected_gene': 'PSMD11', 'score': 583.77}, {'connected_gene': 'GC17P032446', 'score': 550.77}, {'connected_gene': 'ENSG00000279762', 'score': 550.77}, {'connected_gene': 'ZNF207', 'score': 21.15}, {'connected_gene': 'UTP6', 'score': 13.05}, {'connected_gene': 'SUZ12', 'score': 12.47}, {'connected_gene': 'ENSG00000265139', 'score': 11.77}, {'connected_gene': 'CDK5R1', 'score': 11.65}, {'connected_gene': 'TMEM98', 'score': 11.16}, {'connected_gene': 'RHBDL3', 'score': 11.05}, {'connected_gene': 'C17orf75', 'score': 10.98}, {'connected_gene': 'MIR632', 'score': 10.34}, {'connected_gene': 'GC17M032351', 'score': 0.29}]
chr17 GH17I032354 32354758 32355416 0.38 [{'connected_gene': 'PSMD11', 'score': 19.55}, {'connected_gene': 'RHBDL3', 'score': 5.92}, {'connected_gene': 'ZNF207', 'score': 0.77}, {'connected_gene': 'ENSG00000265794', 'score': 0.29}, {'connected_gene': 'ENSG00000274341', 'score': 0.23}, {'connected_gene': 'GC17M032351', 'score': 0.13}]
chr17 GH17I031900 31900600 31902400 2.03 [{'connected_gene': 'UTP6', 'score': 571.19}, {'connected_gene': 'ZNF207', 'score': 22.17}, {'connected_gene': 'SUZ12', 'score': 16.95}, {'connected_gene': 'COPRS', 'score': 15.39}, {'connected_gene': 'TEFM', 'score': 14.09}, {'connected_gene': 'PSMD11', 'score': 13.34}, {'connected_gene': 'DPRXP4', 'score': 12.5}, {'connected_gene': 'SH3GL1P1', 'score': 11.05}, {'connected_gene': 'ENSG00000264456', 'score': 10.49}, {'connected_gene': 'ENSG00000263990', 'score': 0.31}]
chr17 GH17I031858 31858150 31860023 1.85 [{'connected_gene': 'COPRS', 'score': 570.8}, {'connected_gene': 'ZNF207', 'score': 32.72}, {'connected_gene': 'UTP6', 'score': 31.3}, {'connected_gene': 'SUZ12', 'score': 28.28}, {'connected_gene': 'TEFM', 'score': 14.65}, {'connected_gene': 'ENSG00000264456', 'score': 11.57}, {'connected_gene': 'RNF135', 'score': 11.16}, {'connected_gene': 'DPRXP4', 'score': 11.1}, {'connected_gene': 'PIR57755', 'score': 0.44}]
chr17 GH17I032397 32397655 32398088 0.29 [{'connected_gene': 'RHOT1', 'score': 1.38}, {'connected_gene': 'ENSG00000274341', 'score': 0.39}, {'connected_gene': 'ZNF207', 'score': 0.25}, {'connected_gene': 'GC17M032351', 'score': 0.18}]
chr17 GH17I032927 32927006 32929964 1.99 [{'connected_gene': 'TMEM98', 'score': 571.47}, {'connected_gene': 'ZNF207', 'score': 77.29}, {'connected_gene': 'SUZ12', 'score': 71.06}, {'connected_gene': 'SH3GL1P1', 'score': 19.42}, {'connected_gene': 'LRRC37B', 'score': 9.73}, {'connected_gene': 'PIR43668', 'score': 0.39}]
chr17 GH17I031936 31936156 31939001 2.02 [{'connected_gene': 'SUZ12', 'score': 590.34}, {'connected_gene': 'ZNF207', 'score': 42.53}, {'connected_gene': 'UTP6', 'score': 40.84}, {'connected_gene': 'ENSG00000264456', 'score': 19.73}, {'connected_gene': 'NF1', 'score': 16.45}, {'connected_gene': 'ENSG00000263990', 'score': 11.95}, {'connected_gene': 'RNF135', 'score': 11.17}, {'connected_gene': 'COPRS', 'score': 11.14}, {'connected_gene': 'DPRXP4', 'score': 11.1}, {'connected_gene': 'LOC105371722', 'score': 10.89}, {'connected_gene': 'LRRC37B', 'score': 10.7}, {'connected_gene': 'RHOT1', 'score': 4.93}, {'connected_gene': 'RNA5SP437', 'score': 0.31}]
chr17 GH17I032288 32288222 32290631 1.05 [{'connected_gene': 'RHBDL3', 'score': 19.41}, {'connected_gene': 'C17orf75', 'score': 11.1}, {'connected_gene': 'ZNF207', 'score': 11.1}, {'connected_gene': 'MIR632', 'score': 11.1}, {'connected_gene': 'LOC105371730', 'score': 10.58}, {'connected_gene': 'LOC105371732', 'score': 0.44}, {'connected_gene': 'PIR39108', 'score': 0.29}]
chr17 GH17I032267 32267367 32270865 0.64 [{'connected_gene': 'RHBDL3', 'score': 15.79}, {'connected_gene': 'C17orf75', 'score': 11.16}, {'connected_gene': 'ZNF207', 'score': 11.16}, {'connected_gene': 'MIR632', 'score': 11.16}, {'connected_gene': 'GC17M032239', 'score': 0.44}]
chr17 GH17I032355 32355483 32356245 0.64 [{'connected_gene': 'RHBDL3', 'score': 15.47}, {'connected_gene': 'C17orf75', 'score': 9.69}, {'connected_gene': 'ZNF207', 'score': 0.44}, {'connected_gene': 'ENSG00000265794', 'score': 0.29}, {'connected_gene': 'ENSG00000274341', 'score': 0.23}, {'connected_gene': 'GC17M032351', 'score': 0.13}]
chr17 GH17I032006 32006566 32009201 1.54 [{'connected_gene': 'LRRC37B', 'score': 550.77}, {'connected_gene': 'PIR62613', 'score': 550.77}, {'connected_gene': 'ENSG00000264300', 'score': 550.77}, {'connected_gene': 'UTP6', 'score': 19.1}, {'connected_gene': 'SUZ12', 'score': 16.61}, {'connected_gene': 'ZNF207', 'score': 14.92}, {'connected_gene': 'COPRS', 'score': 11.97}, {'connected_gene': 'LOC105371730', 'score': 11.75}, {'connected_gene': 'RHOT1', 'score': 11.75}]
chr17 GH17I032345 32345450 32346608 0.69 [{'connected_gene': 'OOSP1P2', 'score': 550.77}, {'connected_gene': 'UTP6', 'score': 17.68}, {'connected_gene': 'ZNF207', 'score': 16.83}, {'connected_gene': 'SUZ12', 'score': 15.6}, {'connected_gene': 'RHBDL3', 'score': 4.85}, {'connected_gene': 'PIR54391', 'score': 0.77}, {'connected_gene': 'C17orf75', 'score': 0.77}, {'connected_gene': 'GC17M032350', 'score': 0.77}, {'connected_gene': 'ENSG00000265794', 'score': 0.34}]
chr17 GH17I032522 32522620 32526032 1.31 [{'connected_gene': 'LOC105371734', 'score': 550.77}, {'connected_gene': 'ENSG00000265222', 'score': 550.77}, {'connected_gene': 'ZNF207', 'score': 17.45}, {'connected_gene': 'SUZ12', 'score': 13.86}, {'connected_gene': 'UTP6', 'score': 12.74}, {'connected_gene': 'ENSG00000264083', 'score': 6.46}, {'connected_gene': 'ENSG00000265139', 'score': 4.73}, {'connected_gene': 'ENSG00000265337', 'score': 0.44}, {'connected_gene': 'ENSG00000266599', 'score': 0.44}, {'connected_gene': 'MYO1D', 'score': 0.05}]
chr17 GH17I031760 31760454 31761705 0.4 [{'connected_gene': 'LOC100420482', 'score': 550.77}, {'connected_gene': 'ENSG00000263567', 'score': 550.77}, {'connected_gene': 'ZNF207', 'score': 4.78}]
chr17 GH17I032502 32502145 32506931 1.45 [{'connected_gene': 'ENSG00000280245', 'score': 550.77}, {'connected_gene': 'CDK5R1', 'score': 12.21}, {'connected_gene': 'C17orf75', 'score': 6.25}, {'connected_gene': 'ZNF207', 'score': 1.49}, {'connected_gene': 'ENSG00000266718', 'score': 0.44}, {'connected_gene': 'MYO1D', 'score': 0.05}]
chr17 GH17I031540 31540495 31542289 0.56 [{'connected_gene': 'GC17P031541', 'score': 550.77}, {'connected_gene': 'UTP6', 'score': 17.69}, {'connected_gene': 'RAB11FIP4', 'score': 16.77}, {'connected_gene': 'ZNF207', 'score': 16.08}, {'connected_gene': 'SUZ12', 'score': 15.61}, {'connected_gene': 'TEFM', 'score': 12.54}, {'connected_gene': 'RNU6ATAC7P', 'score': 12.24}, {'connected_gene': 'ENSG00000264456', 'score': 11.54}, {'connected_gene': 'DPRXP4', 'score': 11.16}, {'connected_gene': 'ATAD5', 'score': 10.72}, {'connected_gene': 'MIR4724', 'score': 0.44}, {'connected_gene': 'GC17P031509', 'score': 0.29}]
chr17 GH17I032318 32318801 32319859 1.04 [{'connected_gene': 'PIR39108', 'score': 550.77}, {'connected_gene': 'UTP6', 'score': 14.75}, {'connected_gene': 'SUZ12', 'score': 12.6}, {'connected_gene': 'ZNF207', 'score': 11.31}, {'connected_gene': 'PSMD11', 'score': 10.43}, {'connected_gene': 'RHBDL3', 'score': 4.6}, {'connected_gene': 'LOC105371732', 'score': 0.28}]
chr17 GH17I032083 32083400 32084601 1.09 [{'connected_gene': 'ENSG00000264164', 'score': 550.77}, {'connected_gene': 'COPRS', 'score': 10.23}, {'connected_gene': 'ZNF207', 'score': 4.94}, {'connected_gene': 'GC17M032087', 'score': 0.44}, {'connected_gene': 'LOC102724625', 'score': 0.39}]
chr17 GH17I032323 32323801 32324600 0.79 [{'connected_gene': 'ENSG00000265794', 'score': 550.77}, {'connected_gene': 'RHBDL3', 'score': 12.49}, {'connected_gene': 'C17orf75', 'score': 12.34}, {'connected_gene': 'ZNF207', 'score': 12.34}, {'connected_gene': 'MIR632', 'score': 12.34}, {'connected_gene': 'PIR39108', 'score': 0.77}]

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