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
ENST00000181839 [[39989635, 39991451], [40027197, 40027857], [40037092, 40037263], [40038959, 40039099], [40041459, 40041630], [40085434, 40085624], [40087419, 40087476], [40102424, 40102526], [40102621, 40102699], [40117603, 40117720], [40118318, 40118450], [40127724, 40127930], [40132383, 40132836], [40133728, 40136733]] [[39990240, 39991451], [40027197, 40027857], [40037092, 40037263], [40038959, 40039099], [40041459, 40041630], [40085434, 40085624], [40087419, 40087476], [40102424, 40102526], [40102621, 40102699], [40117603, 40117720], [40118318, 40118450], [40127724, 40127930], [40132383, 40132836], [40133728, 40134579]]
ENST00000340829 [[39990108, 39991451], [40027197, 40027857], [40037092, 40037263], [40038959, 40039099], [40041459, 40041630], [40085434, 40085624], [40087419, 40087476], [40102424, 40102526], [40102621, 40102699], [40117603, 40117720], [40118318, 40118450], [40127724, 40127930], [40132563, 40132836], [40133728, 40135154]] [[39990240, 39991451], [40027197, 40027857], [40037092, 40037263], [40038959, 40039099], [40041459, 40041630], [40085434, 40085624], [40087419, 40087476], [40102424, 40102526], [40102621, 40102699], [40117603, 40117720], [40118318, 40118450], [40127724, 40127930], [40132563, 40132836], [40133728, 40134579]]
ENST00000484589 [[40027434, 40027857], [40037092, 40037263], [40038959, 40039099], [40041459, 40041630], [40085434, 40085624], [40087419, 40087476], [40102424, 40102526], [40102621, 40102699], [40108908, 40109687]] None
ENST00000478563 [[40118012, 40118450], [40127724, 40127930], [40132563, 40132619]] None
ENST00000465643 [[40131845, 40132836], [40133728, 40135131]] None
NM_031267 [[39989958, 39991451], [40027197, 40027857], [40037092, 40037263], [40038959, 40039099], [40041459, 40041630], [40085434, 40085624], [40087419, 40087476], [40102424, 40102526], [40102621, 40102699], [40117603, 40117720], [40118318, 40118450], [40127724, 40127930], [40132563, 40132836], [40133728, 40136733]] [[39990240, 39991451], [40027197, 40027857], [40037092, 40037263], [40038959, 40039099], [40041459, 40041630], [40085434, 40085624], [40087419, 40087476], [40102424, 40102526], [40102621, 40102699], [40117603, 40117720], [40118318, 40118450], [40127724, 40127930], [40132563, 40132836], [40133728, 40134579]]
NM_003718 [[39989958, 39991451], [40027197, 40027857], [40037092, 40037263], [40038959, 40039099], [40041459, 40041630], [40085434, 40085624], [40087419, 40087476], [40102424, 40102526], [40102621, 40102699], [40117603, 40117720], [40118318, 40118450], [40127724, 40127930], [40132383, 40132836], [40133728, 40136733]] [[39990240, 39991451], [40027197, 40027857], [40037092, 40037263], [40038959, 40039099], [40041459, 40041630], [40085434, 40085624], [40087419, 40087476], [40102424, 40102526], [40102621, 40102699], [40117603, 40117720], [40118318, 40118450], [40127724, 40127930], [40132383, 40132836], [40133728, 40134579]]
Promoter
Chrom Start End Description
chr7 39989218 39989299 CAGE_peak_4_at_CDK13_5end
chr7 39989360 39989418 CAGE_peak_2_at_CDK13_5end
chr7 39989611 39989716 CAGE_peak_3_at_CDK13_5end
chr7 39989788 39989876 CAGE_peak_1_at_CDK13_5end
chr7 39989910 39989924 CAGE_peak_7_at_CDK13_5end
chr7 39989926 39989939 CAGE_peak_9_at_CDK13_5end
chr7 39989946 39989977 CAGE_peak_6_at_CDK13_5end
chr7 39990840 39990869 CAGE_peak_16_at_CDK13_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr7 GH07I039984 39984601 39986000 0.51 [{'connected_gene': 'CDK13', 'score': 12.72}, {'connected_gene': 'SUGCT', 'score': 4.82}, {'connected_gene': 'PIR43898', 'score': 0.28}, {'connected_gene': 'GC07M039837', 'score': 0.16}]
chr7 GH07I040012 40012747 40013621 0.38 [{'connected_gene': 'CDK13', 'score': 12.87}, {'connected_gene': 'LINC00265', 'score': 6.84}, {'connected_gene': 'PIR43898', 'score': 0.21}, {'connected_gene': 'GC07M039837', 'score': 0.2}]
chr7 GH07I039977 39977472 39979133 0.92 [{'connected_gene': 'CDK13', 'score': 12.23}, {'connected_gene': 'LINC00265', 'score': 6.85}, {'connected_gene': 'PIR43898', 'score': 0.31}, {'connected_gene': 'GC07M039837', 'score': 0.15}]
chr7 GH07I039591 39591984 39593864 1.34 [{'connected_gene': 'CDK13', 'score': 14.03}, {'connected_gene': 'MPLKIP', 'score': 12.37}, {'connected_gene': 'LINC00265', 'score': 9.78}, {'connected_gene': 'RALA', 'score': 8.87}, {'connected_gene': 'GC07P039582', 'score': 0.39}, {'connected_gene': 'GC07P039609', 'score': 0.37}, {'connected_gene': 'YAE1D1', 'score': 0.31}]
chr7 GH07I039893 39893622 39893771 0.46 [{'connected_gene': 'CDK13', 'score': 11.73}, {'connected_gene': 'RN7SL496P', 'score': 0.44}, {'connected_gene': 'GC07P039903', 'score': 0.44}, {'connected_gene': 'ENSG00000259826', 'score': 0.22}, {'connected_gene': 'LOC101928688', 'score': 0.18}, {'connected_gene': 'GC07M039837', 'score': 0.09}]
chr7 GH07I039892 39892741 39893159 0.43 [{'connected_gene': 'CDK13', 'score': 11.73}, {'connected_gene': 'RN7SL496P', 'score': 0.77}, {'connected_gene': 'GC07P039903', 'score': 0.77}, {'connected_gene': 'ENSG00000259826', 'score': 0.22}, {'connected_gene': 'LOC101928688', 'score': 0.18}, {'connected_gene': 'GC07M039837', 'score': 0.09}]
chr7 GH07I039947 39947495 39954197 2.28 [{'connected_gene': 'CDK13', 'score': 561.42}, {'connected_gene': 'PIR43898', 'score': 550.77}, {'connected_gene': 'ENSG00000259826', 'score': 550.77}, {'connected_gene': 'CICP22', 'score': 11.25}, {'connected_gene': 'LINC00265', 'score': 4.5}, {'connected_gene': 'GC07M039837', 'score': 0.13}]
chr7 GH07I039183 39183561 39184812 0.49 [{'connected_gene': 'CDK13', 'score': 19.99}, {'connected_gene': 'CICP22', 'score': 15.31}, {'connected_gene': 'ENSG00000228554', 'score': 11.14}, {'connected_gene': 'MPLKIP', 'score': 9.86}, {'connected_gene': 'LINC00265', 'score': 9.82}, {'connected_gene': 'GC07P039163', 'score': 0.34}, {'connected_gene': 'GC07P039305', 'score': 0.13}, {'connected_gene': 'POU6F2', 'score': 0.08}]
chr7 GH07I040052 40052102 40052937 0.57 [{'connected_gene': 'CDK13', 'score': 12.19}, {'connected_gene': 'GC07M039837', 'score': 0.31}, {'connected_gene': 'PIR43898', 'score': 0.15}]
chr7 GH07I040008 40008187 40008801 0.49 [{'connected_gene': 'CDK13', 'score': 12.89}, {'connected_gene': 'PIR43898', 'score': 0.22}, {'connected_gene': 'GC07M039837', 'score': 0.19}]
chr7 GH07I039979 39979401 39979711 0.6 [{'connected_gene': 'CDK13', 'score': 11.56}, {'connected_gene': 'PIR43898', 'score': 0.31}, {'connected_gene': 'GC07M039837', 'score': 0.15}]
chr7 GH07I040015 40015726 40016329 0.59 [{'connected_gene': 'CDK13', 'score': 20.01}, {'connected_gene': 'GC07M039837', 'score': 0.21}, {'connected_gene': 'PIR43898', 'score': 0.2}]
chr7 GH07I040049 40049201 40049400 0.31 [{'connected_gene': 'CDK13', 'score': 12.19}, {'connected_gene': 'GC07M039837', 'score': 0.31}, {'connected_gene': 'PIR43898', 'score': 0.15}]
chr7 GH07I039985 39984201 39984400 0.2 [{'connected_gene': 'CDK13', 'score': 12.74}, {'connected_gene': 'PIR43898', 'score': 0.29}, {'connected_gene': 'GC07M039837', 'score': 0.16}]
chr7 GH07I039972 39972003 39972683 0.51 [{'connected_gene': 'SUGCT', 'score': 4.68}, {'connected_gene': 'PIR43898', 'score': 0.34}, {'connected_gene': 'CDK13', 'score': 0.34}, {'connected_gene': 'GC07M039837', 'score': 0.14}]
chr7 GH07I039565 39565514 39567409 2.04 [{'connected_gene': 'YAE1D1', 'score': 550.77}, {'connected_gene': 'LOC105375240', 'score': 550.77}, {'connected_gene': 'CDK13', 'score': 11.93}, {'connected_gene': 'MPLKIP', 'score': 11.16}, {'connected_gene': 'RALA', 'score': 10.88}, {'connected_gene': 'LINC00265', 'score': 5.66}, {'connected_gene': 'GC07M039569', 'score': 0.77}]
chr7 GH07I039719 39719542 39722172 1.03 [{'connected_gene': 'LINC00265', 'score': 22.44}, {'connected_gene': 'CDK13', 'score': 11.95}, {'connected_gene': 'MPLKIP', 'score': 11.18}, {'connected_gene': 'RALA', 'score': 10.95}, {'connected_gene': 'YAE1D1', 'score': 10.25}, {'connected_gene': 'LOC105375240', 'score': 10.25}, {'connected_gene': 'ENSG00000228554', 'score': 0.37}]
chr7 GH07I039732 39732280 39736111 2 [{'connected_gene': 'LINC00265', 'score': 580.7}, {'connected_gene': 'CDK13', 'score': 37.02}, {'connected_gene': 'CICP22', 'score': 24.26}, {'connected_gene': 'ENSG00000228554', 'score': 19.91}, {'connected_gene': 'RALA', 'score': 13.95}, {'connected_gene': 'YAE1D1', 'score': 11.31}, {'connected_gene': 'LOC105375240', 'score': 11.31}, {'connected_gene': 'MPLKIP', 'score': 9.88}, {'connected_gene': 'RNU6-719P', 'score': 0.29}]
chr7 GH07I039968 39968801 39970200 0.4 [{'connected_gene': 'LINC00265', 'score': 4.72}, {'connected_gene': 'PIR43898', 'score': 0.37}, {'connected_gene': 'CDK13', 'score': 0.37}, {'connected_gene': 'GC07M039837', 'score': 0.14}]
chr7 GH07I039753 39753787 39756026 0.76 [{'connected_gene': 'LINC00265', 'score': 16.67}, {'connected_gene': 'RALA', 'score': 10.69}, {'connected_gene': 'CICP22', 'score': 10.65}, {'connected_gene': 'YAE1D1', 'score': 10.61}, {'connected_gene': 'LOC105375240', 'score': 10.61}, {'connected_gene': 'CDK13', 'score': 10.42}, {'connected_gene': 'RNU6-719P', 'score': 0.39}]
chr7 GH07I040132 40132988 40135800 2.1 [{'connected_gene': 'MPLKIP', 'score': 578.85}, {'connected_gene': 'GC07P040132', 'score': 550.77}, {'connected_gene': 'SUGCT', 'score': 550.77}, {'connected_gene': 'CDK13', 'score': 67.56}, {'connected_gene': 'CICP22', 'score': 36.82}, {'connected_gene': 'ENSG00000228554', 'score': 28.94}, {'connected_gene': 'ENSG00000259826', 'score': 12.63}, {'connected_gene': 'LINC00265', 'score': 12.54}, {'connected_gene': 'LOC100101126', 'score': 11.74}, {'connected_gene': 'YAE1D1', 'score': 11.22}]
chr7 GH07I040095 40095402 40095551 0.75 [{'connected_gene': 'GC07P040095', 'score': 550.77}, {'connected_gene': 'GC07M040085', 'score': 0.44}, {'connected_gene': 'CDK13', 'score': 0.11}]
chr7 GH07I040089 40089909 40090571 0.36 [{'connected_gene': 'GC07M040085', 'score': 0.77}, {'connected_gene': 'GC07P040095', 'score': 0.44}, {'connected_gene': 'CDK13', 'score': 0.11}]