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
ENST00000483377 [[45295893, 45296197], [45296397, 45296521], [45399599, 45399756], [45405683, 45405788], [45459677, 45459851], [45479982, 45480144], [45512953, 45513019], [45514563, 45514946]] [[45296463, 45296521], [45399599, 45399655]]
ENST00000541979 [[45296059, 45296197], [45296397, 45296521], [45390329, 45390694], [45399599, 45399756], [45405683, 45405788], [45459677, 45459851], [45479982, 45480144], [45514563, 45515042]] [[45296059, 45296197], [45296397, 45296521], [45390329, 45390694], [45399599, 45399756], [45405683, 45405788], [45459677, 45459851], [45479982, 45480144], [45514563, 45515042]]
ENST00000465038 [[45296059, 45296197], [45296397, 45296521], [45390329, 45390694], [45399599, 45399756], [45405683, 45405788], [45459677, 45459851], [45479982, 45480144], [45512953, 45513019], [45514563, 45515042]] [[45296463, 45296521], [45390329, 45390694], [45399599, 45399756], [45405683, 45405788], [45459677, 45459851], [45479982, 45480144], [45512953, 45513019], [45514563, 45515042]]
ENST00000352853 [[45296059, 45296197], [45296397, 45296521], [45390329, 45390694], [45399599, 45399756], [45405683, 45405788], [45459677, 45459851], [45479982, 45480144], [45512953, 45513019], [45514563, 45515042]] [[45296059, 45296197], [45296397, 45296521], [45390329, 45390694], [45399599, 45399756], [45405683, 45405788], [45459677, 45459851], [45479982, 45480144], [45512953, 45513019], [45514563, 45515042]]
ENST00000371438 [[45296105, 45296521], [45390329, 45390694], [45399599, 45399756], [45405683, 45405788], [45459677, 45459851], [45479982, 45480144], [45512953, 45513019], [45514563, 45518816]] [[45296463, 45296521], [45390329, 45390694], [45399599, 45399756], [45405683, 45405788], [45459677, 45459851], [45479982, 45480144], [45512953, 45513019], [45514563, 45515042]]
ENST00000371436 [[45296463, 45296521], [45390329, 45390694], [45399599, 45399756], [45405683, 45405788], [45459677, 45459851], [45479982, 45480144], [45514563, 45515130]] [[45296463, 45296521], [45390329, 45390694], [45399599, 45399756], [45405683, 45405788], [45459677, 45459851], [45479982, 45480144], [45514563, 45515042]]
ENST00000576263 [[45296463, 45296521], [45390329, 45390694], [45399599, 45399756], [45405683, 45405788], [45459677, 45459851], [45479982, 45480144], [45630851, 45632086]] [[45296463, 45296521], [45390329, 45390694], [45399599, 45399756], [45405683, 45405788], [45459677, 45459851], [45479982, 45480144], [45630851, 45631459]]
ENST00000478660 [[45389772, 45390694], [45399599, 45399756], [45405683, 45405788], [45479982, 45480144], [45481186, 45481390], [45630851, 45631609]] [[45390313, 45390694], [45399599, 45399756], [45405683, 45405788], [45479982, 45480144], [45481186, 45481212]]
ENST00000371432 [[45389913, 45390694], [45399599, 45399756], [45405683, 45405788], [45459677, 45459851], [45479982, 45480144], [45514563, 45518818]] [[45390313, 45390694], [45399599, 45399756], [45405683, 45405788], [45459677, 45459851], [45479982, 45480144], [45514563, 45515042]]
ENST00000359524 [[45390221, 45390694], [45399599, 45399756], [45405683, 45405788], [45459677, 45459851], [45479982, 45480144], [45512953, 45513019], [45514563, 45518816]] [[45390313, 45390694], [45399599, 45399756], [45405683, 45405788], [45459677, 45459851], [45479982, 45480144], [45512953, 45513019], [45514563, 45515042]]
ENST00000483243 [[45296059, 45296232], [45296397, 45296521], [45339625, 45339792]] None
ENST00000473041 [[45329309, 45329425], [45339625, 45339792]] None
NM_001015051 [[45296053, 45296197], [45296397, 45296521], [45390329, 45390694], [45399599, 45399756], [45405683, 45405788], [45459677, 45459851], [45479982, 45480144], [45514563, 45518819]] [[45296463, 45296521], [45390329, 45390694], [45399599, 45399756], [45405683, 45405788], [45459677, 45459851], [45479982, 45480144], [45514563, 45515042]]
NM_001024630 [[45296053, 45296197], [45296397, 45296521], [45390329, 45390694], [45399599, 45399756], [45405683, 45405788], [45459677, 45459851], [45479982, 45480144], [45512953, 45513019], [45514563, 45518819]] [[45296463, 45296521], [45390329, 45390694], [45399599, 45399756], [45405683, 45405788], [45459677, 45459851], [45479982, 45480144], [45512953, 45513019], [45514563, 45515042]]
NM_001278478 [[45390313, 45390694], [45399599, 45399756], [45405683, 45405788], [45459677, 45459851], [45479982, 45480144], [45514563, 45518819]] [[45390313, 45390694], [45399599, 45399756], [45405683, 45405788], [45459677, 45459851], [45479982, 45480144], [45514563, 45515042]]
NR_103533 [[45296053, 45296197], [45296397, 45296521], [45339625, 45339792]] None
NR_103532 [[45296053, 45296232], [45296397, 45296521], [45339625, 45339792]] None
Promoter
Chrom Start End Description
chr6 45295874 45295877 CAGE_peak_47_at_RUNX2_5end
chr6 45295979 45295986 CAGE_peak_28_at_RUNX2_5end
chr6 45296028 45296034 CAGE_peak_24_at_RUNX2_5end
chr6 45296048 45296082 CAGE_peak_1_at_RUNX2_5end
chr6 45296191 45296203 CAGE_peak_13_at_RUNX2_5end
chr6 45296266 45296277 CAGE_peak_34_at_RUNX2_5end
chr6 45296391 45296400 CAGE_peak_52_at_RUNX2_5end
chr6 45389791 45389832 CAGE_peak_3_at_RUNX2_5end
chr6 45389835 45389861 CAGE_peak_7_at_RUNX2_5end
chr6 45389893 45389902 CAGE_peak_21_at_RUNX2_5end
chr6 45389966 45389977 CAGE_peak_23_at_RUNX2_5end
chr6 45389985 45389996 CAGE_peak_18_at_RUNX2_5end
chr6 45390002 45390023 CAGE_peak_6_at_RUNX2_5end
chr6 45390025 45390076 CAGE_peak_2_at_RUNX2_5end
chr6 45390077 45390105 CAGE_peak_9_at_RUNX2_5end
chr6 45390137 45390148 CAGE_peak_12_at_RUNX2_5end
chr6 45390269 45390298 CAGE_peak_5_at_RUNX2_5end
chr6 45390300 45390335 CAGE_peak_4_at_RUNX2_5end
chr6 45390343 45390388 CAGE_peak_10_at_RUNX2_5end
chr6 45390399 45390418 CAGE_peak_15_at_RUNX2_5end
chr6 45390442 45390479 CAGE_peak_8_at_RUNX2_5end
chr6 45390599 45390662 CAGE_peak_11_at_RUNX2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I045386 45386505 45388756 0.69 [{'connected_gene': 'RUNX2', 'score': 10.67}, {'connected_gene': 'SUPT3H', 'score': 9.65}, {'connected_gene': 'ENSG00000271857', 'score': 0.29}]
chr6 GH06I045380 45380401 45380600 0.2 [{'connected_gene': 'RUNX2', 'score': 10.68}, {'connected_gene': 'SUPT3H', 'score': 0.77}, {'connected_gene': 'ENSG00000271857', 'score': 0.26}]
chr6 GH06I045323 45323801 45324000 0.31 [{'connected_gene': 'RUNX2', 'score': 0.77}, {'connected_gene': 'GC06M045207', 'score': 0.39}, {'connected_gene': 'SUPT3H', 'score': 0.23}, {'connected_gene': 'PIR56352', 'score': 0.14}]
chr6 GH06I045327 45327646 45328800 1.62 [{'connected_gene': 'RUNX2', 'score': 550.77}, {'connected_gene': 'GC06M045207', 'score': 0.44}, {'connected_gene': 'SUPT3H', 'score': 0.25}]
chr6 GH06I045310 45310034 45311177 0.58 [{'connected_gene': 'RUNX2', 'score': 0.37}, {'connected_gene': 'GC06M045207', 'score': 0.31}, {'connected_gene': 'SUPT3H', 'score': 0.2}, {'connected_gene': 'PIR56352', 'score': 0.15}]
chr6 GH06I045535 45535666 45536739 0.83 [{'connected_gene': 'RUNX2', 'score': 3.71}, {'connected_gene': 'RUNX2-AS1', 'score': 0.26}, {'connected_gene': 'GC06P045490', 'score': 0.25}, {'connected_gene': 'GC06M045521', 'score': 0.05}]
chr6 GH06I045477 45477202 45478895 1.02 [{'connected_gene': 'RUNX2', 'score': 5.49}, {'connected_gene': 'GC06P045490', 'score': 0.39}, {'connected_gene': 'ENSG00000271857', 'score': 0.22}]
chr6 GH06I045450 45450350 45451631 0.83 [{'connected_gene': 'RUNX2', 'score': 5.14}, {'connected_gene': 'ENSG00000271857', 'score': 0.31}, {'connected_gene': 'GC06P045490', 'score': 0.28}]
chr6 GH06I045441 45441523 45443154 0.82 [{'connected_gene': 'RUNX2', 'score': 5.49}, {'connected_gene': 'ENSG00000271857', 'score': 0.34}, {'connected_gene': 'GC06P045490', 'score': 0.25}]
chr6 GH06I045482 45482527 45484359 0.69 [{'connected_gene': 'RUNX2', 'score': 5.53}, {'connected_gene': 'GC06P045490', 'score': 0.44}, {'connected_gene': 'ENSG00000271857', 'score': 0.21}]
chr6 GH06I045472 45472762 45473857 0.79 [{'connected_gene': 'RUNX2', 'score': 4.99}, {'connected_gene': 'GC06P045490', 'score': 0.37}, {'connected_gene': 'ENSG00000271857', 'score': 0.23}]
chr6 GH06I045443 45443185 45448607 1.82 [{'connected_gene': 'RUNX2', 'score': 5.16}, {'connected_gene': 'ENSG00000271857', 'score': 0.34}, {'connected_gene': 'GC06P045490', 'score': 0.26}]
chr6 GH06I045453 45453453 45455227 1.03 [{'connected_gene': 'RUNX2', 'score': 5.14}, {'connected_gene': 'ENSG00000271857', 'score': 0.29}, {'connected_gene': 'GC06P045490', 'score': 0.28}]
chr6 GH06I045479 45479944 45481773 1.14 [{'connected_gene': 'RUNX2', 'score': 5.86}, {'connected_gene': 'GC06P045490', 'score': 0.44}, {'connected_gene': 'ENSG00000271857', 'score': 0.22}]
chr6 GH06I045376 45376037 45379373 2.09 [{'connected_gene': 'SUPT3H', 'score': 577.52}, {'connected_gene': 'RUNX2', 'score': 10.69}, {'connected_gene': 'CDC5L', 'score': 10.52}, {'connected_gene': 'GC06P045353', 'score': 0.34}]
chr6 GH06I045435 45435402 45440542 1.64 [{'connected_gene': 'SUPT3H', 'score': 6.59}, {'connected_gene': 'RUNX2', 'score': 6.45}, {'connected_gene': 'ENSG00000271857', 'score': 0.37}, {'connected_gene': 'GC06P045490', 'score': 0.23}]
chr6 GH06I045371 45371206 45371413 0.22 [{'connected_gene': 'SUPT3H', 'score': 6.54}, {'connected_gene': 'RUNX2', 'score': 5.5}, {'connected_gene': 'GC06P045353', 'score': 0.37}]
chr6 GH06I045394 45394066 45395203 0.46 [{'connected_gene': 'SUPT3H', 'score': 7.18}, {'connected_gene': 'ENSG00000271857', 'score': 5.95}, {'connected_gene': 'RUNX2', 'score': 0.2}]
chr6 GH06I045606 45606928 45610210 1.45 [{'connected_gene': 'RUNX2-AS1', 'score': 5.37}, {'connected_gene': 'RUNX2', 'score': 4.67}, {'connected_gene': 'ENSG00000271857', 'score': 4.34}, {'connected_gene': 'GC06P045577', 'score': 0.29}, {'connected_gene': 'GC06P045772', 'score': 0.1}, {'connected_gene': 'GC06M045521', 'score': 0.05}]
chr6 GH06I045560 45560404 45560629 0.27 [{'connected_gene': 'RUNX2-AS1', 'score': 0.37}, {'connected_gene': 'GC06P045490', 'score': 0.19}, {'connected_gene': 'RUNX2', 'score': 0.07}, {'connected_gene': 'GC06M045521', 'score': 0.05}]
chr6 GH06I045538 45538319 45539276 0.46 [{'connected_gene': 'RUNX2-AS1', 'score': 0.28}, {'connected_gene': 'GC06P045490', 'score': 0.25}, {'connected_gene': 'RUNX2', 'score': 0.08}, {'connected_gene': 'GC06M045521', 'score': 0.05}]
chr6 GH06I045652 45652566 45653436 0.43 [{'connected_gene': 'RUNX2-AS1', 'score': 4.34}, {'connected_gene': 'GC06P045577', 'score': 0.18}, {'connected_gene': 'GC06P045772', 'score': 0.13}, {'connected_gene': 'GC06M045521', 'score': 0.06}, {'connected_gene': 'RUNX2', 'score': 0.05}]
chr6 GH06I045577 45577801 45578619 0.51 [{'connected_gene': 'RUNX2-AS1', 'score': 555.47}, {'connected_gene': 'GC06P045577', 'score': 550.77}, {'connected_gene': 'GC06P045772', 'score': 0.08}, {'connected_gene': 'RUNX2', 'score': 0.07}, {'connected_gene': 'GC06M045521', 'score': 0.05}]
chr6 GH06I045605 45605783 45606505 0.2 [{'connected_gene': 'RUNX2-AS1', 'score': 5.39}, {'connected_gene': 'ENSG00000271857', 'score': 4.09}, {'connected_gene': 'GC06P045577', 'score': 0.31}, {'connected_gene': 'GC06P045772', 'score': 0.1}, {'connected_gene': 'RUNX2', 'score': 0.06}, {'connected_gene': 'GC06M045521', 'score': 0.05}]
chr6 GH06I045555 45555727 45557357 0.66 [{'connected_gene': 'RUNX2-AS1', 'score': 0.34}, {'connected_gene': 'GC06P045490', 'score': 0.2}, {'connected_gene': 'RUNX2', 'score': 0.07}, {'connected_gene': 'GC06M045521', 'score': 0.05}]
chr6 GH06I045566 45566524 45567324 0.52 [{'connected_gene': 'RUNX2-AS1', 'score': 0.44}, {'connected_gene': 'GC06P045490', 'score': 0.18}, {'connected_gene': 'RUNX2', 'score': 0.07}, {'connected_gene': 'GC06M045521', 'score': 0.05}]
chr6 GH06I045624 45624949 45627313 0.63 [{'connected_gene': 'RUNX2-AS1', 'score': 5.4}, {'connected_gene': 'ENSG00000271857', 'score': 4.45}, {'connected_gene': 'GC06P045577', 'score': 0.25}, {'connected_gene': 'GC06P045772', 'score': 0.11}, {'connected_gene': 'RUNX2', 'score': 0.06}, {'connected_gene': 'GC06M045521', 'score': 0.05}]
chr6 GH06I045589 45589145 45592289 1.25 [{'connected_gene': 'RUNX2-AS1', 'score': 7.02}, {'connected_gene': 'ENSG00000271857', 'score': 6.57}, {'connected_gene': 'GC06P045577', 'score': 0.39}, {'connected_gene': 'GC06P045772', 'score': 0.09}, {'connected_gene': 'RUNX2', 'score': 0.07}, {'connected_gene': 'GC06M045521', 'score': 0.05}]
chr6 GH06I045242 45242764 45242913 0.59 [{'connected_gene': 'PIR56352', 'score': 0.29}, {'connected_gene': 'RUNX2', 'score': 0.18}, {'connected_gene': 'GC06M045207', 'score': 0.16}, {'connected_gene': 'SUPT3H', 'score': 0.12}]
chr6 GH06I045419 45419263 45427144 2.47 [{'connected_gene': 'ENSG00000271857', 'score': 557.46}, {'connected_gene': 'RUNX2', 'score': 555.87}, {'connected_gene': 'SUPT3H', 'score': 23.63}, {'connected_gene': 'GC06P045490', 'score': 0.2}]
chr6 GH06I045333 45333454 45333704 0.23 [{'connected_gene': 'GC06M045207', 'score': 0.77}, {'connected_gene': 'RUNX2', 'score': 0.44}, {'connected_gene': 'SUPT3H', 'score': 0.26}]
chr6 GH06I045432 45432964 45433113 0.89 [{'connected_gene': 'ENSG00000271857', 'score': 0.39}, {'connected_gene': 'GC06P045490', 'score': 0.22}, {'connected_gene': 'RUNX2', 'score': 0.14}]
chr6 GH06I045611 45611077 45611672 0.58 [{'connected_gene': 'GC06P045577', 'score': 0.29}, {'connected_gene': 'GC06P045772', 'score': 0.1}, {'connected_gene': 'RUNX2', 'score': 0.06}, {'connected_gene': 'GC06M045521', 'score': 0.05}]
chr6 GH06I045434 45434264 45434413 0.58 [{'connected_gene': 'ENSG00000271857', 'score': 0.39}, {'connected_gene': 'GC06P045490', 'score': 0.22}, {'connected_gene': 'RUNX2', 'score': 0.14}]
chr6 GH06I045585 45585781 45588198 0.51 [{'connected_gene': 'GC06P045577', 'score': 0.44}, {'connected_gene': 'GC06P045772', 'score': 0.09}, {'connected_gene': 'RUNX2', 'score': 0.07}, {'connected_gene': 'GC06M045521', 'score': 0.05}]
chr6 GH06I045615 45615024 45615117 0.66 [{'connected_gene': 'GC06P045577', 'score': 0.28}, {'connected_gene': 'GC06P045772', 'score': 0.1}, {'connected_gene': 'RUNX2', 'score': 0.06}, {'connected_gene': 'GC06M045521', 'score': 0.05}]
chr6 GH06I045613 45613379 45615000 0.89 [{'connected_gene': 'ENSG00000271857', 'score': 4.46}, {'connected_gene': 'GC06P045577', 'score': 0.28}, {'connected_gene': 'GC06P045772', 'score': 0.1}, {'connected_gene': 'RUNX2', 'score': 0.06}, {'connected_gene': 'GC06M045521', 'score': 0.05}]
chr6 GH06I045661 45661206 45662522 0.51 [{'connected_gene': 'GC06P045577', 'score': 0.18}, {'connected_gene': 'GC06P045772', 'score': 0.14}, {'connected_gene': 'GC06M045521', 'score': 0.06}, {'connected_gene': 'RUNX2', 'score': 0.06}]
chr6 GH06I045617 45617564 45617713 0.58 [{'connected_gene': 'GC06P045577', 'score': 0.28}, {'connected_gene': 'GC06P045772', 'score': 0.1}, {'connected_gene': 'RUNX2', 'score': 0.06}, {'connected_gene': 'GC06M045521', 'score': 0.05}]
chr6 GH06I045619 45619236 45620646 0.51 [{'connected_gene': 'ENSG00000271857', 'score': 4.43}, {'connected_gene': 'GC06P045577', 'score': 0.26}, {'connected_gene': 'GC06P045772', 'score': 0.1}, {'connected_gene': 'RUNX2', 'score': 0.06}, {'connected_gene': 'GC06M045521', 'score': 0.06}]
chr6 GH06I045490 45489024 45489153 0.2 [{'connected_gene': 'GC06P045490', 'score': 550.77}, {'connected_gene': 'ENSG00000271857', 'score': 0.2}, {'connected_gene': 'RUNX2', 'score': 0.1}]
chr6 GH06I045427 45427605 45429065 0.31 [{'connected_gene': 'ENSG00000271857', 'score': 6.69}, {'connected_gene': 'SUPT3H', 'score': 5.51}, {'connected_gene': 'GC06P045490', 'score': 0.21}, {'connected_gene': 'RUNX2', 'score': 0.15}]
chr6 GH06I045649 45649850 45652481 1.12 [{'connected_gene': 'ENSG00000271857', 'score': 5.78}, {'connected_gene': 'RUNX2-AS1', 'score': 4.8}, {'connected_gene': 'RUNX2', 'score': 1.83}, {'connected_gene': 'GC06P045577', 'score': 0.19}, {'connected_gene': 'GC06P045772', 'score': 0.13}, {'connected_gene': 'GC06M045521', 'score': 0.06}]
chr6 GH06I045489 45489474 45491843 0.38 [{'connected_gene': 'GC06P045490', 'score': 550.77}, {'connected_gene': 'RUNX2-AS1', 'score': 0.17}, {'connected_gene': 'RUNX2', 'score': 0.1}]
chr6 GH06I045504 45504013 45506463 1.09 [{'connected_gene': 'GC06P045490', 'score': 0.39}, {'connected_gene': 'RUNX2-AS1', 'score': 0.19}, {'connected_gene': 'RUNX2', 'score': 0.1}]
chr6 GH06I045524 45524484 45524633 0.46 [{'connected_gene': 'GC06P045490', 'score': 0.29}, {'connected_gene': 'RUNX2-AS1', 'score': 0.23}, {'connected_gene': 'RUNX2', 'score': 0.08}, {'connected_gene': 'GC06M045521', 'score': 0.04}]
chr6 GH06I045532 45532486 45533890 0.58 [{'connected_gene': 'GC06P045490', 'score': 0.26}, {'connected_gene': 'RUNX2-AS1', 'score': 0.26}, {'connected_gene': 'RUNX2', 'score': 0.08}, {'connected_gene': 'GC06M045521', 'score': 0.05}]
chr6 GH06I045654 45654044 45658516 1.18 [{'connected_gene': 'ENSG00000271857', 'score': 5.08}, {'connected_gene': 'RUNX2-AS1', 'score': 4.59}, {'connected_gene': 'GC06P045577', 'score': 0.18}, {'connected_gene': 'GC06P045772', 'score': 0.13}, {'connected_gene': 'GC06M045521', 'score': 0.06}, {'connected_gene': 'RUNX2', 'score': 0.05}]
chr6 GH06I045646 45646469 45649339 0.83 [{'connected_gene': 'ENSG00000271857', 'score': 5.44}, {'connected_gene': 'RUNX2-AS1', 'score': 4.98}, {'connected_gene': 'GC06P045577', 'score': 0.19}, {'connected_gene': 'GC06P045772', 'score': 0.13}, {'connected_gene': 'GC06M045521', 'score': 0.06}, {'connected_gene': 'RUNX2', 'score': 0.05}]
chr6 GH06I045663 45663084 45664200 0.51 [{'connected_gene': 'ENSG00000271857', 'score': 5.05}, {'connected_gene': 'RUNX2-AS1', 'score': 4.54}, {'connected_gene': 'GC06P045577', 'score': 0.17}, {'connected_gene': 'GC06P045772', 'score': 0.14}, {'connected_gene': 'GC06M045521', 'score': 0.06}, {'connected_gene': 'RUNX2', 'score': 0.05}]
chr6 GH06I045495 45495355 45497137 0.87 [{'connected_gene': 'GC06P045490', 'score': 0.44}, {'connected_gene': 'RUNX2-AS1', 'score': 0.18}, {'connected_gene': 'RUNX2', 'score': 0.1}]
chr6 GH06I045507 45507364 45507513 0.6 [{'connected_gene': 'GC06P045490', 'score': 0.37}, {'connected_gene': 'RUNX2-AS1', 'score': 0.2}, {'connected_gene': 'RUNX2', 'score': 0.1}]
chr6 GH06I045494 45494569 45495082 0.63 [{'connected_gene': 'GC06P045490', 'score': 0.77}, {'connected_gene': 'RUNX2-AS1', 'score': 0.18}, {'connected_gene': 'RUNX2', 'score': 0.1}]
chr6 GH06I045519 45519868 45521189 0.31 [{'connected_gene': 'GC06P045490', 'score': 0.29}, {'connected_gene': 'RUNX2-AS1', 'score': 0.22}, {'connected_gene': 'RUNX2', 'score': 0.08}]

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