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
ENST00000578006 [[30593194, 30593319], [30594920, 30594944], [30615250, 30615388], [30615810, 30616035], [30621312, 30621461], [30625110, 30625223], [30632359, 30632460], [30643250, 30643311], [30647976, 30648381]] [[30593208, 30593319], [30594920, 30594944], [30615250, 30615271]]
ENST00000431505 [[30593194, 30593319], [30594920, 30594944], [30611677, 30611836], [30615810, 30616035], [30621312, 30621461], [30625110, 30625223], [30643250, 30643311], [30647976, 30648382]] [[30593208, 30593319], [30594920, 30594944], [30611677, 30611836], [30615810, 30616035], [30621312, 30621461], [30625110, 30625223], [30643250, 30643311], [30647976, 30648382]]
ENST00000269051 [[30593194, 30593319], [30594920, 30594944], [30611677, 30611836], [30615810, 30616035], [30621312, 30621461], [30625110, 30625223], [30632359, 30632460], [30643250, 30643311], [30647976, 30651680]] [[30593208, 30593319], [30594920, 30594944], [30611677, 30611836], [30615810, 30616035], [30621312, 30621461], [30625110, 30625223], [30632359, 30632460], [30643250, 30643311], [30647976, 30648248]]
ENST00000538145 [[30593195, 30593319], [30611677, 30611836], [30615810, 30616035], [30621312, 30621461], [30625110, 30625223], [30632359, 30632460], [30643250, 30643311], [30647976, 30648382]] [[30593208, 30593319], [30611677, 30611836], [30615810, 30616035], [30621312, 30621461], [30625110, 30625223], [30632359, 30632460], [30643250, 30643311], [30647976, 30648248]]
ENST00000536287 [[30594822, 30594944], [30615810, 30616035], [30621312, 30621461], [30625110, 30625223], [30632359, 30632460], [30643250, 30643311], [30647976, 30651675]] [[30615810, 30616035], [30621312, 30621461], [30625110, 30625223], [30632359, 30632460], [30643250, 30643311], [30647976, 30648248]]
ENST00000582967 [[30611170, 30611836], [30615810, 30616035], [30621363, 30621461], [30625110, 30625223], [30632359, 30632460], [30643250, 30643293]] None
NM_001330181 [[30593194, 30593319], [30611677, 30611836], [30615810, 30616035], [30621312, 30621461], [30625110, 30625223], [30632359, 30632460], [30643250, 30643311], [30647976, 30651680]] [[30593208, 30593319], [30611677, 30611836], [30615810, 30616035], [30621312, 30621461], [30625110, 30625223], [30632359, 30632460], [30643250, 30643311], [30647976, 30648248]]
NM_138328 [[30593194, 30593319], [30594920, 30594944], [30611677, 30611836], [30615810, 30616035], [30621312, 30621461], [30625110, 30625223], [30632359, 30632460], [30643250, 30643311], [30647976, 30651680]] [[30593208, 30593319], [30594920, 30594944], [30611677, 30611836], [30615810, 30616035], [30621312, 30621461], [30625110, 30625223], [30632359, 30632460], [30643250, 30643311], [30647976, 30648248]]
Promoter
Chrom Start End Description
chr17 30592836 30592860 CAGE_peak_1_at_RHBDL3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
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 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 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 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 GH17I032305 32305162 32305291 0.2 [{'connected_gene': 'PSMD11', 'score': 13.55}, {'connected_gene': 'PIR39108', 'score': 0.37}, {'connected_gene': 'LOC105371732', 'score': 0.34}, {'connected_gene': 'RHBDL3', 'score': 0.28}]
chr17 GH17I032310 32310902 32311748 0.43 [{'connected_gene': 'PSMD11', 'score': 14.45}, {'connected_gene': 'PIR39108', 'score': 0.44}, {'connected_gene': 'LOC105371732', 'score': 0.29}, {'connected_gene': 'RHBDL3', 'score': 0.25}]
chr17 GH17I032138 32138801 32139201 1.01 [{'connected_gene': 'RHOT1', 'score': 10.8}, {'connected_gene': 'RHBDL3', 'score': 10.46}, {'connected_gene': 'ENSG00000277511', 'score': 0.39}]
chr17 GH17I032482 32482473 32484992 1.26 [{'connected_gene': 'RHBDL3', 'score': 5.66}, {'connected_gene': 'CDK5R1', 'score': 0.77}, {'connected_gene': 'GC17M032351', 'score': 0.77}, {'connected_gene': 'PSMD11', 'score': 0.28}]
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 GH17I032205 32205425 32206871 0.74 [{'connected_gene': 'RHBDL3', 'score': 11.41}, {'connected_gene': 'RHOT1', 'score': 9.88}, {'connected_gene': 'GC17M032228', 'score': 0.34}, {'connected_gene': 'ENSG00000280020', 'score': 0.31}]
chr17 GH17I032137 32137082 32137231 0.43 [{'connected_gene': 'RHBDL3', 'score': 10.46}, {'connected_gene': 'ENSG00000277511', 'score': 0.44}, {'connected_gene': 'RHOT1', 'score': 0.44}]
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 GH17I032283 32283259 32284418 0.52 [{'connected_gene': 'RHBDL3', 'score': 7.36}, {'connected_gene': 'LOC105371732', 'score': 6.6}, {'connected_gene': 'PIR39108', 'score': 0.28}]
chr17 GH17I032285 32285802 32285951 0.66 [{'connected_gene': 'RHBDL3', 'score': 6.34}, {'connected_gene': 'LOC105371732', 'score': 0.77}, {'connected_gene': 'PIR39108', 'score': 0.28}]
chr17 GH17I032287 32287813 32288071 0.66 [{'connected_gene': 'RHBDL3', 'score': 12.54}, {'connected_gene': 'LOC105371732', 'score': 0.44}, {'connected_gene': 'PIR39108', 'score': 0.29}]
chr17 GH17I032253 32253142 32253311 0.86 [{'connected_gene': 'RHBDL3', 'score': 7.75}, {'connected_gene': 'LOC105371731', 'score': 0.39}, {'connected_gene': 'GC17M032239', 'score': 0.34}, {'connected_gene': 'UBL5P2', 'score': 0.31}, {'connected_gene': 'RHOT1', 'score': 0.14}]
chr17 GH17I032265 32264502 32264631 0.58 [{'connected_gene': 'RHBDL3', 'score': 557.71}, {'connected_gene': 'LOC105371731', 'score': 550.77}, {'connected_gene': 'GC17M032239', 'score': 0.39}, {'connected_gene': 'UBL5P2', 'score': 0.28}]
chr17 GH17I032255 32255895 32257498 0.49 [{'connected_gene': 'RHBDL3', 'score': 7.92}, {'connected_gene': 'LOC105371731', 'score': 0.44}, {'connected_gene': 'GC17M032239', 'score': 0.34}, {'connected_gene': 'UBL5P2', 'score': 0.31}]
chr17 GH17I032261 32261756 32263027 0.6 [{'connected_gene': 'RHBDL3', 'score': 7.49}, {'connected_gene': 'LOC105371731', 'score': 0.77}, {'connected_gene': 'GC17M032239', 'score': 0.39}, {'connected_gene': 'UBL5P2', 'score': 0.29}]
chr17 GH17I032264 32264922 32266401 1.89 [{'connected_gene': 'RHBDL3', 'score': 565.71}, {'connected_gene': 'LOC105371731', 'score': 550.77}, {'connected_gene': 'GC17M032239', 'score': 0.39}]
chr17 GH17I032124 32124806 32126078 0.65 [{'connected_gene': 'RHBDL3', 'score': 10.02}, {'connected_gene': 'ENSG00000277511', 'score': 0.77}, {'connected_gene': 'ENSG00000263369', 'score': 0.39}]
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 GH17I032279 32279677 32281731 0.89 [{'connected_gene': 'LOC105371732', 'score': 557.88}, {'connected_gene': 'RHBDL3', 'score': 14.94}, {'connected_gene': 'GC17M032239', 'score': 0.77}]
chr17 GH17I032286 32286622 32286771 1.04 [{'connected_gene': 'LOC105371732', 'score': 0.44}, {'connected_gene': 'RHBDL3', 'score': 0.34}, {'connected_gene': 'PIR39108', 'score': 0.29}]
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 GH17I032106 32106601 32107400 0.2 [{'connected_gene': 'LOC105371730', 'score': 11.0}, {'connected_gene': 'RHBDL3', 'score': 4.5}, {'connected_gene': 'WDR45BP1', 'score': 0.44}, {'connected_gene': 'ENSG00000263369', 'score': 0.44}, {'connected_gene': 'LOC102724625', '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 GH17I032462 32461623 32461772 0.56 [{'connected_gene': 'ENSG00000202100', 'score': 550.77}, {'connected_gene': 'GC17M032464', 'score': 550.77}, {'connected_gene': 'CDK5R1', 'score': 11.99}, {'connected_gene': 'RHBDL3', 'score': 10.28}, {'connected_gene': 'MYO1D', 'score': 9.84}, {'connected_gene': 'ENSG00000226377', 'score': 9.84}, {'connected_gene': 'GC17P032446', 'score': 0.37}, {'connected_gene': 'PSMD11', 'score': 0.37}, {'connected_gene': 'GC17M032351', 'score': 0.37}]
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 GH17I032461 32461883 32462032 0.57 [{'connected_gene': 'ENSG00000202100', 'score': 550.77}, {'connected_gene': 'GC17M032464', 'score': 550.77}, {'connected_gene': 'RHBDL3', 'score': 15.88}, {'connected_gene': 'CDK5R1', 'score': 11.99}, {'connected_gene': 'ENSG00000226377', 'score': 9.85}, {'connected_gene': 'MYO1D', 'score': 9.84}, {'connected_gene': 'GC17P032446', 'score': 0.37}, {'connected_gene': 'PSMD11', 'score': 0.37}, {'connected_gene': 'GC17M032351', 'score': 0.37}]
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 GH17I032126 32126430 32129001 1.5 [{'connected_gene': 'ENSG00000277511', 'score': 550.77}, {'connected_gene': 'RHBDL3', 'score': 10.03}, {'connected_gene': 'RHOT1', 'score': 9.87}]
chr17 GH17I032274 32274771 32276491 1.32 [{'connected_gene': 'GC17M032239', 'score': 550.77}, {'connected_gene': 'RHBDL3', 'score': 14.3}, {'connected_gene': 'LOC105371732', 'score': 7.28}]
chr17 GH17I032127 32126089 32126268 0.38 [{'connected_gene': 'ENSG00000277511', 'score': 550.77}, {'connected_gene': 'RHBDL3', 'score': 10.03}, {'connected_gene': 'ENSG00000263369', 'score': 0.39}]

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