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
ENST00000583774 [[30661509, 30661624], [30661793, 30661858], [30662341, 30662461], [30664915, 30664973], [30665226, 30665370], [30666831, 30666957], [30668222, 30668303], [30669018, 30669140], [30676960, 30677042]] [[30661509, 30661624], [30661793, 30661858], [30662341, 30662461], [30664915, 30664973], [30665226, 30665370], [30666831, 30666957], [30668222, 30668303], [30669018, 30669134]]
ENST00000583104 [[30651583, 30651793], [30661487, 30661624], [30661793, 30661858], [30662341, 30662381]] [[30651743, 30651793], [30661487, 30661624], [30661793, 30661858], [30662341, 30662381]]
ENST00000577809 [[30658380, 30658997], [30660435, 30660539], [30661487, 30661624], [30661793, 30661858], [30662341, 30662461], [30664915, 30664973], [30665226, 30665370], [30666831, 30666957], [30668222, 30668303], [30669018, 30669208]] [[30658781, 30658997], [30660435, 30660539], [30661487, 30661624], [30661793, 30661858], [30662341, 30662461], [30664915, 30664973], [30665226, 30665370], [30666831, 30666957], [30668222, 30668303], [30669018, 30669158]]
ENST00000225805 [[30658391, 30658997], [30660435, 30660539], [30661487, 30661624], [30661793, 30661858], [30662341, 30662461], [30664915, 30664975], [30665228, 30665370], [30666831, 30666957], [30668222, 30668303], [30669018, 30669189]] [[30658781, 30658997], [30660435, 30660539], [30661487, 30661624], [30661793, 30661858], [30662341, 30662461], [30664915, 30664975], [30665228, 30665370], [30666831, 30666957], [30668222, 30668303], [30669018, 30669158]]
ENST00000582961 [[30658614, 30658997], [30661487, 30661562]] [[30658926, 30658997], [30661487, 30661562]]
ENST00000580558 [[30660476, 30660539], [30661487, 30661624], [30661793, 30661858], [30662341, 30662461], [30664915, 30664973], [30665226, 30665370], [30666831, 30666957], [30668222, 30668303], [30668881, 30668971]] [[30660476, 30660539], [30661487, 30661624], [30661793, 30661858], [30662341, 30662461], [30664915, 30664927]]
ENST00000581747 [[30661556, 30661624], [30661793, 30661858], [30662341, 30662461], [30664915, 30664973], [30665226, 30665370], [30666831, 30666957], [30668222, 30668303], [30668819, 30668890]] [[30661556, 30661624], [30661793, 30661858], [30662341, 30662461], [30664915, 30664927]]
ENST00000578215 [[30661669, 30661858], [30662341, 30662461], [30664915, 30664960]] None
ENST00000583221 [[30661807, 30661858], [30662341, 30662461], [30664915, 30664973], [30665226, 30665370], [30666831, 30666943], [30668222, 30668303], [30669018, 30669228]] [[30666936, 30666943], [30668222, 30668303], [30669018, 30669158]]
ENST00000583334 [[30662360, 30662461], [30664915, 30664973], [30665226, 30665370], [30666831, 30666981], [30668222, 30668303], [30668881, 30668920]] [[30662360, 30662461], [30664915, 30664927]]
ENST00000582073 [[30665025, 30665370], [30666831, 30666957], [30668222, 30668303], [30669018, 30669140], [30669259, 30669288]] None
ENST00000580485 [[30665037, 30665370], [30666831, 30666957], [30668222, 30668303], [30669018, 30669189]] None
ENST00000580294 [[30667887, 30668303], [30669018, 30669186]] None
NM_022344 [[30655459, 30658997], [30660435, 30660539], [30661487, 30661624], [30661793, 30661858], [30662341, 30662461], [30664915, 30664973], [30665226, 30665370], [30666831, 30666957], [30668222, 30668303], [30669018, 30669228]] [[30658781, 30658997], [30660435, 30660539], [30661487, 30661624], [30661793, 30661858], [30662341, 30662461], [30664915, 30664973], [30665226, 30665370], [30666831, 30666957], [30668222, 30668303], [30669018, 30669158]]
Promoter
Chrom Start End Description
chr17 30669138 30669205 CAGE_peak_1_at_C17orf75_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 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 GH17I033265 33265873 33268974 0.6 [{'connected_gene': 'C17orf75', 'score': 11.27}, {'connected_gene': 'GC17P033138', 'score': 0.13}, {'connected_gene': 'GC17M033432', 'score': 0.09}, {'connected_gene': 'ASIC2', 'score': 0.02}]
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 GH17I032302 32302522 32304891 1.13 [{'connected_gene': 'C17orf75', 'score': 8.53}, {'connected_gene': 'PIR39108', 'score': 0.37}, {'connected_gene': 'LOC105371732', 'score': 0.34}, {'connected_gene': 'RHBDL3', 'score': 0.28}]
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 GH17I032491 32491233 32493400 1.17 [{'connected_gene': 'PSMD11', 'score': 20.61}, {'connected_gene': 'C17orf75', 'score': 9.02}, {'connected_gene': 'RHBDL3', 'score': 6.01}, {'connected_gene': 'ENSG00000266718', 'score': 0.77}, {'connected_gene': 'CDK5R1', 'score': 0.44}, {'connected_gene': 'MYO1D', 'score': 0.05}]
chr17 GH17I032335 32335531 32336312 0.2 [{'connected_gene': 'PSMD11', 'score': 19.56}, {'connected_gene': 'RHBDL3', 'score': 10.84}, {'connected_gene': 'OOSP1P2', 'score': 0.44}, {'connected_gene': 'ENSG00000265139', 'score': 0.44}, {'connected_gene': 'C17orf75', 'score': 0.39}, {'connected_gene': 'ENSG00000265794', 'score': 0.39}]
chr17 GH17I031680 31680049 31680416 1.2 [{'connected_gene': 'MIR193A', 'score': 10.95}, {'connected_gene': 'C17orf75', 'score': 4.58}, {'connected_gene': 'EVI2A', 'score': 4.38}, {'connected_gene': 'EVI2B', 'score': 3.53}, {'connected_gene': 'RHOT1', 'score': 1.11}, {'connected_gene': 'GC17M031689', 'score': 0.39}, {'connected_gene': 'GC17M031638', 'score': 0.26}, {'connected_gene': 'PIR51917', 'score': 0.26}]
chr17 GH17I031677 31677691 31679332 0.58 [{'connected_gene': 'MIR193A', 'score': 10.95}, {'connected_gene': 'C17orf75', 'score': 4.75}, {'connected_gene': 'GC17M031689', 'score': 0.39}, {'connected_gene': 'GC17M031638', 'score': 0.26}, {'connected_gene': 'PIR51917', 'score': 0.26}]
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 GH17I032331 32331201 32331600 0.31 [{'connected_gene': 'RHBDL3', 'score': 12.47}, {'connected_gene': 'ENSG00000265139', 'score': 0.77}, {'connected_gene': 'ENSG00000265794', 'score': 0.44}, {'connected_gene': 'OOSP1P2', 'score': 0.39}, {'connected_gene': 'C17orf75', 'score': 0.37}]
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 GH17I032266 32266882 32267031 0.69 [{'connected_gene': 'LOC105371731', 'score': 550.77}, {'connected_gene': 'RHBDL3', 'score': 550.77}, {'connected_gene': 'UTP6', 'score': 10.79}, {'connected_gene': 'SUZ12', 'score': 10.11}, {'connected_gene': 'C17orf75', 'score': 9.81}, {'connected_gene': 'GC17M032239', 'score': 0.39}]
chr17 GH17I031548 31548601 31551000 1.47 [{'connected_gene': 'TRT-CGT4-1', 'score': 550.77}, {'connected_gene': 'NF1', 'score': 32.69}, {'connected_gene': 'LRRC37BP1', 'score': 28.86}, {'connected_gene': 'ENSG00000266490', 'score': 26.27}, {'connected_gene': 'UTP6', 'score': 24.6}, {'connected_gene': 'SUZ12P1', 'score': 15.67}, {'connected_gene': 'ENSG00000263990', 'score': 13.14}, {'connected_gene': 'SUZ12', 'score': 13.02}, {'connected_gene': 'LRRC37B', 'score': 12.97}, {'connected_gene': 'RHBDL3', 'score': 11.99}, {'connected_gene': 'ENSG00000265791', 'score': 11.49}, {'connected_gene': 'SMURF2P1', 'score': 10.47}, {'connected_gene': 'ATAD5', 'score': 10.42}, {'connected_gene': 'C17orf75', 'score': 10.06}, {'connected_gene': 'RAB11FIP4', 'score': 6.18}, {'connected_gene': 'PSMD11', 'score': 4.74}, {'connected_gene': 'GC17P031541', 'score': 0.44}]
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 GH17I032514 32514673 32521513 2.1 [{'connected_gene': 'ENSG00000263717', 'score': 550.77}, {'connected_gene': 'ENSG00000266599', 'score': 550.77}, {'connected_gene': 'ENSG00000279781', 'score': 550.77}, {'connected_gene': 'CDK5R1', 'score': 22.55}, {'connected_gene': 'C17orf75', 'score': 4.82}, {'connected_gene': 'LOC105371734', 'score': 0.44}, {'connected_gene': 'ENSG00000265222', 'score': 0.44}, {'connected_gene': 'ENSG00000280245', 'score': 0.39}, {'connected_gene': 'MYO1D', 'score': 0.05}]
chr17 GH17I032494 32494401 32498550 1.29 [{'connected_gene': 'ENSG00000266718', 'score': 557.09}, {'connected_gene': 'PSMD11', 'score': 13.06}, {'connected_gene': 'CDK5R1', 'score': 10.63}, {'connected_gene': 'C17orf75', 'score': 8.46}, {'connected_gene': 'ENSG00000280245', 'score': 0.44}, {'connected_gene': 'MYO1D', 'score': 0.05}]
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}]
chr17 GH17I032015 32015315 32016400 1.12 [{'connected_gene': 'ENSG00000265139', 'score': 12.1}, {'connected_gene': 'ENSG00000263990', 'score': 11.85}, {'connected_gene': 'LOC105371730', 'score': 11.76}, {'connected_gene': 'RHOT1', 'score': 11.76}, {'connected_gene': 'TMEM98', 'score': 11.7}, {'connected_gene': 'SUZ12', 'score': 11.66}, {'connected_gene': 'COPRS', 'score': 11.07}, {'connected_gene': 'UTP6', 'score': 10.67}, {'connected_gene': 'C17orf75', 'score': 10.09}, {'connected_gene': 'GC17M032014', 'score': 0.77}, {'connected_gene': 'LRRC37B', 'score': 0.44}, {'connected_gene': 'PIR62613', 'score': 0.44}]

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