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
ENST00000376495 [[23728197, 23731308]] [[23728386, 23729832]]
NM_001145373 [[23728197, 23731310]] [[23728386, 23729832]]
Promoter
Chrom Start End Description
chr10 23727926 23727957 CAGE_peak_4_at_OTUD1_5end
chr10 23727966 23727986 CAGE_peak_6_at_OTUD1_5end
chr10 23727989 23728040 CAGE_peak_2_at_OTUD1_5end
chr10 23728041 23728084 CAGE_peak_3_at_OTUD1_5end
chr10 23728215 23728231 CAGE_peak_5_at_OTUD1_5end
chr10 23728380 23728397 CAGE_peak_1_at_OTUD1_5end
chr10 23729243 23729265 CAGE_peak_8_at_OTUD1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I023643 23643209 23643288 0.22 [{'connected_gene': 'KIAA1217', 'score': 10.7}, {'connected_gene': 'OTUD1', 'score': 5.31}, {'connected_gene': 'GC10P023565', 'score': 0.18}]
chr10 GH10I023412 23412082 23412984 1.21 [{'connected_gene': 'C10orf67', 'score': 15.79}, {'connected_gene': 'OTUD1', 'score': 15.46}, {'connected_gene': 'LOC105376453', 'score': 10.86}, {'connected_gene': 'ENSG00000227537', 'score': 9.14}, {'connected_gene': 'MIR1254-2', 'score': 0.37}]
chr10 GH10I023417 23417332 23419101 0.59 [{'connected_gene': 'C10orf67', 'score': 11.13}, {'connected_gene': 'LOC105376453', 'score': 11.12}, {'connected_gene': 'OTUD1', 'score': 0.34}, {'connected_gene': 'MIR1254-2', 'score': 0.34}]
chr10 GH10I023402 23402411 23405971 0.75 [{'connected_gene': 'C10orf67', 'score': 11.13}, {'connected_gene': 'LOC105376453', 'score': 11.11}, {'connected_gene': 'OTUD1', 'score': 11.09}, {'connected_gene': 'ENSG00000227537', 'score': 9.49}, {'connected_gene': 'MIR1254-2', 'score': 0.39}]
chr10 GH10I023433 23433812 23434070 0.49 [{'connected_gene': 'C10orf67', 'score': 11.1}, {'connected_gene': 'LOC105376453', 'score': 11.09}, {'connected_gene': 'OTUD1', 'score': 7.03}, {'connected_gene': 'MIR1254-2', 'score': 0.26}]
chr10 GH10I022738 22738652 22738821 0.73 [{'connected_gene': 'OTUD1', 'score': 20.36}, {'connected_gene': 'PIP4K2A', 'score': 12.44}, {'connected_gene': 'ENSG00000261671', 'score': 11.65}, {'connected_gene': 'COMMD3', 'score': 10.17}, {'connected_gene': 'RNU6-413P', 'score': 0.25}]
chr10 GH10I023511 23511811 23513417 1.38 [{'connected_gene': 'OTUD1', 'score': 18.41}, {'connected_gene': 'C10orf67', 'score': 10.33}, {'connected_gene': 'LOC105376453', 'score': 10.32}, {'connected_gene': 'KIAA1217', 'score': 9.76}, {'connected_gene': 'GC10M023494', 'score': 0.31}, {'connected_gene': 'GC10P023457', 'score': 0.23}]
chr10 GH10I023413 23413506 23414305 1.13 [{'connected_gene': 'OTUD1', 'score': 13.65}, {'connected_gene': 'C10orf67', 'score': 10.72}, {'connected_gene': 'LOC105376453', 'score': 10.71}, {'connected_gene': 'MIR1254-2', 'score': 0.34}]
chr10 GH10I023408 23408458 23409466 0.91 [{'connected_gene': 'OTUD1', 'score': 12.27}, {'connected_gene': 'C10orf67', 'score': 11.47}, {'connected_gene': 'LOC105376453', 'score': 11.47}, {'connected_gene': 'MIR1254-2', 'score': 0.37}]
chr10 GH10I023431 23431855 23433605 1 [{'connected_gene': 'OTUD1', 'score': 16.49}, {'connected_gene': 'C10orf67', 'score': 11.1}, {'connected_gene': 'LOC105376453', 'score': 11.09}, {'connected_gene': 'MIR1254-2', 'score': 0.28}]
chr10 GH10I023448 23448602 23449889 1.13 [{'connected_gene': 'OTUD1', 'score': 12.3}, {'connected_gene': 'C10orf67', 'score': 10.79}, {'connected_gene': 'LOC105376453', 'score': 10.79}, {'connected_gene': 'GC10P023457', 'score': 0.44}, {'connected_gene': 'GC10P023441', 'score': 0.44}]
chr10 GH10I023054 23054993 23056601 1.11 [{'connected_gene': 'OTUD1', 'score': 11.94}, {'connected_gene': 'MSRB2', 'score': 10.98}, {'connected_gene': 'RNA5SP304', 'score': 0.22}]
chr10 GH10I023406 23406673 23406729 0.4 [{'connected_gene': 'OTUD1', 'score': 15.38}, {'connected_gene': 'LOC105376453', 'score': 10.21}, {'connected_gene': 'C10orf67', 'score': 10.21}, {'connected_gene': 'ENSG00000227537', 'score': 9.49}, {'connected_gene': 'MIR1254-2', 'score': 0.39}]
chr10 GH10I023421 23421891 23423373 0.7 [{'connected_gene': 'OTUD1', 'score': 0.37}, {'connected_gene': 'MIR1254-2', 'score': 0.31}]
chr10 GH10I023451 23451401 23452321 0.4 [{'connected_gene': 'OTUD1', 'score': 4.76}, {'connected_gene': 'GC10P023457', 'score': 0.44}, {'connected_gene': 'GC10P023441', 'score': 0.39}]
chr10 GH10I023437 23437692 23442001 1.98 [{'connected_gene': 'OTUD1', 'score': 550.77}, {'connected_gene': 'GC10P023441', 'score': 550.77}]
chr10 GH10I023376 23376130 23376480 0.68 [{'connected_gene': 'LOC105376453', 'score': 11.07}, {'connected_gene': 'C10orf67', 'score': 11.07}, {'connected_gene': 'ENSG00000227537', 'score': 9.41}, {'connected_gene': 'OTUD1', 'score': 5.11}, {'connected_gene': 'MIR1254-2', 'score': 0.37}]
chr10 GH10I023398 23398372 23398521 0.2 [{'connected_gene': 'MIR1254-2', 'score': 0.44}, {'connected_gene': 'OTUD1', 'score': 0.26}]
chr10 GH10I023399 23399145 23401481 0.72 [{'connected_gene': 'MIR1254-2', 'score': 0.44}, {'connected_gene': 'OTUD1', 'score': 0.28}]
chr10 GH10I022821 22821320 22822020 0.82 [{'connected_gene': 'ENSG00000261671', 'score': 22.85}, {'connected_gene': 'OTUD1', 'score': 20.36}, {'connected_gene': 'RNU6-413P', 'score': 11.55}, {'connected_gene': 'BMI1', 'score': 10.43}, {'connected_gene': 'COMMD3', 'score': 10.15}, {'connected_gene': 'LOC105376451', 'score': 0.29}, {'connected_gene': 'GC10P022788', 'score': 0.29}]