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
ENST00000407071 [[245318286, 245318789], [245319583, 245319985], [245530135, 245530669], [245582880, 245583047], [245704068, 245704252], [245765878, 245766085], [245770952, 245771046], [245772567, 245772830], [245775094, 245775278], [245809422, 245809582], [245847534, 245847697], [245848706, 245852109], [245861407, 245861610], [245862188, 245862339], [245865759, 245866428]] [[245318726, 245318789], [245319583, 245319985], [245530135, 245530669], [245582880, 245583047], [245704068, 245704252], [245765878, 245766085], [245770952, 245771046], [245772567, 245772830], [245775094, 245775278], [245809422, 245809582], [245847534, 245847697], [245848706, 245852109], [245861407, 245861610], [245862188, 245862339], [245865759, 245865908]]
ENST00000366518 [[245674303, 245674430], [245704068, 245704252], [245765878, 245766085], [245770952, 245771046], [245772567, 245772830], [245775094, 245775278], [245809422, 245809582], [245847534, 245847697], [245848706, 245852109], [245861407, 245861610], [245862188, 245862339], [245865759, 245872733]] [[245674407, 245674430], [245704068, 245704252], [245765878, 245766085], [245770952, 245771046], [245772567, 245772830], [245775094, 245775278], [245809422, 245809582], [245847534, 245847697], [245848706, 245852109], [245861407, 245861610], [245862188, 245862339], [245865759, 245865908]]
ENST00000479506 [[245516979, 245517218], [245530135, 245530669], [245533877, 245533996], [245534722, 245535019]] None
ENST00000483253 [[245809393, 245809582], [245847534, 245847697], [245848706, 245850616]] None
NM_018012 [[245318286, 245318789], [245319583, 245319985], [245530135, 245530669], [245582880, 245583047], [245704068, 245704252], [245765878, 245766085], [245770952, 245771046], [245772567, 245772830], [245775094, 245775278], [245809422, 245809582], [245847534, 245847697], [245848706, 245852109], [245861407, 245861610], [245862188, 245862339], [245865759, 245866428]] [[245318726, 245318789], [245319583, 245319985], [245530135, 245530669], [245582880, 245583047], [245704068, 245704252], [245765878, 245766085], [245770952, 245771046], [245772567, 245772830], [245775094, 245775278], [245809422, 245809582], [245847534, 245847697], [245848706, 245852109], [245861407, 245861610], [245862188, 245862339], [245865759, 245865908]]
Promoter
Chrom Start End Description
chr1 245317998 245318028 CAGE_peak_7_at_KIF26B_5end
chr1 245318070 245318083 CAGE_peak_9_at_KIF26B_5end
chr1 245318279 245318297 CAGE_peak_1_at_KIF26B_5end
chr1 245318423 245318444 CAGE_peak_5_at_KIF26B_5end
chr1 245674002 245674013 CAGE_peak_16_at_KIF26B_5end
chr1 245674016 245674045 CAGE_peak_3_at_KIF26B_5end
chr1 245809322 245809343 CAGE_peak_8_at_KIF26B_5end
chr1 245809377 245809410 CAGE_peak_2_at_KIF26B_5end
chr1 245809411 245809422 CAGE_peak_15_at_KIF26B_5end
chr1 245809424 245809436 CAGE_peak_13_at_KIF26B_5end
chr1 245809446 245809460 CAGE_peak_10_at_KIF26B_5end
chr1 245809477 245809487 CAGE_peak_18_at_KIF26B_5end
chr1 245809502 245809517 CAGE_peak_11_at_KIF26B_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I245873 245873891 245876216 1.5 [{'connected_gene': 'KIF26B', 'score': 10.7}, {'connected_gene': 'ENSG00000231612', 'score': 10.18}, {'connected_gene': 'ENSG00000235096', 'score': 10.14}, {'connected_gene': 'PIR42564', 'score': 0.39}, {'connected_gene': 'GC01P245894', 'score': 0.37}, {'connected_gene': 'SMYD3', 'score': 0.03}]
chr1 GH01I245880 245880437 245882255 0.66 [{'connected_gene': 'KIF26B', 'score': 10.7}, {'connected_gene': 'ENSG00000231612', 'score': 10.18}, {'connected_gene': 'ENSG00000235096', 'score': 10.15}, {'connected_gene': 'GC01P245894', 'score': 0.39}, {'connected_gene': 'PIR42564', 'score': 0.37}, {'connected_gene': 'SMYD3', 'score': 0.03}]
chr1 GH01I245090 245090775 245093229 1.35 [{'connected_gene': 'KIF26B', 'score': 10.86}, {'connected_gene': 'KIF26B-AS1', 'score': 9.84}, {'connected_gene': 'EFCAB2', 'score': 7.86}, {'connected_gene': 'LOC101928068', 'score': 7.39}, {'connected_gene': 'PIR32194', 'score': 0.44}, {'connected_gene': 'RNU6-999P', 'score': 0.25}]
chr1 GH01I245377 245377767 245379129 0.6 [{'connected_gene': 'KIF26B', 'score': 11.17}, {'connected_gene': 'KIF26B-AS1', 'score': 10.34}, {'connected_gene': 'PIR44116', 'score': 0.21}, {'connected_gene': 'LOC105373266', 'score': 0.19}]
chr1 GH01I245375 245375472 245376710 0.31 [{'connected_gene': 'KIF26B', 'score': 10.61}, {'connected_gene': 'KIF26B-AS1', 'score': 9.94}, {'connected_gene': 'PIR44116', 'score': 0.21}, {'connected_gene': 'LOC105373266', 'score': 0.19}]
chr1 GH01I245178 245177419 245177568 0.43 [{'connected_gene': 'KIF26B', 'score': 11.93}, {'connected_gene': 'KIF26B-AS1', 'score': 11.56}]
chr1 GH01I245153 245153895 245157201 1.86 [{'connected_gene': 'KIF26B', 'score': 550.77}, {'connected_gene': 'KIF26B-AS1', 'score': 0.18}]
chr1 GH01I245157 245157239 245157307 0.57 [{'connected_gene': 'KIF26B', 'score': 0.77}, {'connected_gene': 'KIF26B-AS1', 'score': 0.18}]
chr1 GH01I245180 245180639 245180788 0.2 [{'connected_gene': 'KIF26B', 'score': 11.91}, {'connected_gene': 'KIF26B-AS1', 'score': 11.57}]
chr1 GH01I245177 245177159 245177308 0.52 [{'connected_gene': 'KIF26B', 'score': 11.93}, {'connected_gene': 'KIF26B-AS1', 'score': 11.56}]
chr1 GH01I245188 245188318 245189000 0.31 [{'connected_gene': 'KIF26B', 'score': 11.82}, {'connected_gene': 'KIF26B-AS1', 'score': 11.68}]
chr1 GH01I245154 245153119 245153528 1.24 [{'connected_gene': 'KIF26B', 'score': 550.77}, {'connected_gene': 'GC01M245135', 'score': 0.37}, {'connected_gene': 'RNU1-132P', 'score': 0.37}]
chr1 GH01I245310 245310535 245311614 0.79 [{'connected_gene': 'KIF26B', 'score': 6.64}, {'connected_gene': 'PIR44116', 'score': 0.77}, {'connected_gene': 'DNAJC19P8', 'score': 0.31}]
chr1 GH01I245298 245298694 245299288 0.2 [{'connected_gene': 'KIF26B', 'score': 15.53}, {'connected_gene': 'PIR44116', 'score': 0.37}, {'connected_gene': 'DNAJC19P8', 'score': 0.37}]
chr1 GH01I245337 245337316 245338803 0.92 [{'connected_gene': 'HNRNPU', 'score': 36.44}, {'connected_gene': 'DESI2', 'score': 18.83}, {'connected_gene': 'LOC101928068', 'score': 13.67}, {'connected_gene': 'KIF26B', 'score': 10.86}, {'connected_gene': 'KIF26B-AS1', 'score': 10.63}, {'connected_gene': 'ADSS', 'score': 9.8}, {'connected_gene': 'PIR44116', 'score': 0.34}, {'connected_gene': 'LOC105373266', 'score': 0.14}]
chr1 GH01I245336 245336144 245337228 0.66 [{'connected_gene': 'HNRNPU', 'score': 27.63}, {'connected_gene': 'LOC101928068', 'score': 13.67}, {'connected_gene': 'COX20', 'score': 11.71}, {'connected_gene': 'KIF26B-AS1', 'score': 10.45}, {'connected_gene': 'DESI2', 'score': 10.15}, {'connected_gene': 'PIR44116', 'score': 0.34}, {'connected_gene': 'LOC105373266', 'score': 0.14}, {'connected_gene': 'KIF26B', 'score': 0.09}]
chr1 GH01I245345 245345318 245346188 0.84 [{'connected_gene': 'ADSS', 'score': 20.41}, {'connected_gene': 'HNRNPU', 'score': 9.89}, {'connected_gene': 'PIR44116', 'score': 0.29}, {'connected_gene': 'LOC105373266', 'score': 0.15}, {'connected_gene': 'KIF26B', 'score': 0.08}]
chr1 GH01I245400 245400493 245400508 0.22 [{'connected_gene': 'KIF26B-AS1', 'score': 10.22}, {'connected_gene': 'KIF26B', 'score': 1.62}, {'connected_gene': 'LOC105373266', 'score': 0.23}, {'connected_gene': 'PIR44116', 'score': 0.17}]
chr1 GH01I245300 245300944 245301845 0.43 [{'connected_gene': 'KIF26B-AS1', 'score': 11.14}, {'connected_gene': 'KIF26B', 'score': 10.51}, {'connected_gene': 'PIR44116', 'score': 0.39}, {'connected_gene': 'DNAJC19P8', 'score': 0.37}]
chr1 GH01I245256 245256293 245257248 0.43 [{'connected_gene': 'KIF26B-AS1', 'score': 12.59}, {'connected_gene': 'KIF26B', 'score': 5.59}, {'connected_gene': 'GC01M245282', 'score': 0.31}]
chr1 GH01I245258 245258076 245259207 0.8 [{'connected_gene': 'KIF26B-AS1', 'score': 11.99}, {'connected_gene': 'KIF26B', 'score': 11.06}, {'connected_gene': 'GC01M245282', 'score': 0.34}]
chr1 GH01I245168 245168001 245168400 0.46 [{'connected_gene': 'KIF26B-AS1', 'score': 11.19}, {'connected_gene': 'KIF26B', 'score': 0.39}]
chr1 GH01I245236 245235775 245235884 0.22 [{'connected_gene': 'KIF26B-AS1', 'score': 550.77}, {'connected_gene': 'KIF26B', 'score': 1.96}, {'connected_gene': 'GC01M245282', 'score': 0.25}]
chr1 GH01I245166 245166201 245166800 0.43 [{'connected_gene': 'KIF26B-AS1', 'score': 10.56}, {'connected_gene': 'KIF26B', 'score': 0.39}]
chr1 GH01I245257 245257676 245257684 0.2 [{'connected_gene': 'KIF26B-AS1', 'score': 11.7}, {'connected_gene': 'GC01M245282', 'score': 0.31}, {'connected_gene': 'KIF26B', 'score': 0.15}]
chr1 GH01I245235 245235199 245235348 0.2 [{'connected_gene': 'KIF26B-AS1', 'score': 550.77}, {'connected_gene': 'GC01M245282', 'score': 0.25}, {'connected_gene': 'KIF26B', 'score': 0.18}]
chr1 GH01I245245 245245379 245245508 0.49 [{'connected_gene': 'KIF26B-AS1', 'score': 0.39}, {'connected_gene': 'GC01M245282', 'score': 0.28}, {'connected_gene': 'KIF26B', 'score': 0.16}]
chr1 GH01I245234 245234300 245235184 0.46 [{'connected_gene': 'KIF26B-AS1', 'score': 550.77}, {'connected_gene': 'GC01M245282', 'score': 0.25}, {'connected_gene': 'KIF26B', 'score': 0.18}]
chr1 GH01I245409 245409515 245410602 0.2 [{'connected_gene': 'KIF26B-AS1', 'score': 10.15}, {'connected_gene': 'LOC105373266', 'score': 0.26}, {'connected_gene': 'PIR44116', 'score': 0.15}, {'connected_gene': 'KIF26B', 'score': 0.07}]
chr1 GH01I245450 245450542 245450949 0.22 [{'connected_gene': 'LOC105373266', 'score': 550.77}, {'connected_gene': 'KIF26B-AS1', 'score': 10.38}, {'connected_gene': 'PIR60478', 'score': 0.39}, {'connected_gene': 'KIF26B', 'score': 0.06}]
chr1 GH01I246007 246007964 246009297 0.4 [{'connected_gene': 'LOC101928089', 'score': 15.29}, {'connected_gene': 'KIF26B', 'score': 10.52}, {'connected_gene': 'ENSG00000235096', 'score': 0.37}, {'connected_gene': 'LOC105373269', 'score': 0.14}, {'connected_gene': 'SMYD3', 'score': 0.04}]
chr1 GH01I245968 245968359 245970178 0.69 [{'connected_gene': 'ENSG00000235096', 'score': 10.64}, {'connected_gene': 'ENSG00000231612', 'score': 10.14}, {'connected_gene': 'KIF26B', 'score': 10.07}, {'connected_gene': 'LOC105373269', 'score': 0.19}, {'connected_gene': 'SMYD3', 'score': 0.03}]
chr1 GH01I245587 245587812 245588230 0.22 [{'connected_gene': 'ENSG00000231612', 'score': 11.08}, {'connected_gene': 'KIF26B', 'score': 1.38}, {'connected_gene': 'ENSG00000238224', 'score': 0.31}, {'connected_gene': 'PIR31070', 'score': 0.15}]
chr1 GH01I245512 245512401 245513400 0.66 [{'connected_gene': 'PIR31070', 'score': 0.34}, {'connected_gene': 'ENSG00000238224', 'score': 0.15}, {'connected_gene': 'KIF26B', 'score': 0.05}]
chr1 GH01I245604 245604902 245606804 0.74 [{'connected_gene': 'ENSG00000238224', 'score': 0.44}, {'connected_gene': 'PIR31070', 'score': 0.13}, {'connected_gene': 'KIF26B', 'score': 0.05}]
chr1 GH01I245485 245485801 245486400 0.46 [{'connected_gene': 'PIR31070', 'score': 0.77}, {'connected_gene': 'PIR60478', 'score': 0.34}, {'connected_gene': 'KIF26B', 'score': 0.06}]
chr1 GH01I245646 245646159 245646308 0.71 [{'connected_gene': 'ENSG00000231612', 'score': 11.29}, {'connected_gene': 'ENSG00000238224', 'score': 0.29}, {'connected_gene': 'KIF26B', 'score': 0.04}]
chr1 GH01I245654 245654401 245655367 0.2 [{'connected_gene': 'ENSG00000231612', 'score': 12.46}, {'connected_gene': 'ENSG00000238224', 'score': 0.28}, {'connected_gene': 'KIF26B', 'score': 0.04}]
chr1 GH01I245598 245598244 245600116 0.77 [{'connected_gene': 'ENSG00000238224', 'score': 0.37}, {'connected_gene': 'PIR31070', 'score': 0.14}, {'connected_gene': 'KIF26B', 'score': 0.04}]
chr1 GH01I245510 245510801 245511200 0.2 [{'connected_gene': 'PIR31070', 'score': 0.34}, {'connected_gene': 'ENSG00000238224', 'score': 0.15}, {'connected_gene': 'KIF26B', 'score': 0.05}]
chr1 GH01I245550 245550401 245550600 0.31 [{'connected_gene': 'PIR31070', 'score': 0.21}, {'connected_gene': 'ENSG00000238224', 'score': 0.21}, {'connected_gene': 'KIF26B', 'score': 0.05}]
chr1 GH01I245584 245584944 245586005 0.74 [{'connected_gene': 'ENSG00000238224', 'score': 12.81}, {'connected_gene': 'ENSG00000231612', 'score': 10.22}, {'connected_gene': 'KIF26B-AS1', 'score': 10.02}, {'connected_gene': 'PIR31070', 'score': 0.15}, {'connected_gene': 'KIF26B', 'score': 0.04}]
chr1 GH01I245363 245363827 245364409 0.43 [{'connected_gene': 'PIR44116', 'score': 0.25}, {'connected_gene': 'LOC105373266', 'score': 0.17}, {'connected_gene': 'KIF26B', 'score': 0.08}]
chr1 GH01I245458 245458999 245459148 0.38 [{'connected_gene': 'PIR60478', 'score': 0.44}, {'connected_gene': 'LOC105373266', 'score': 0.44}, {'connected_gene': 'KIF26B', 'score': 0.06}]
chr1 GH01I245684 245683279 245683428 0.31 [{'connected_gene': 'ENSG00000231612', 'score': 0.44}, {'connected_gene': 'LOC105373265', 'score': 0.37}, {'connected_gene': 'KIF26B', 'score': 0.03}]
chr1 GH01I245677 245677098 245677227 0.24 [{'connected_gene': 'ENSG00000231612', 'score': 550.77}, {'connected_gene': 'LOC105373265', 'score': 0.34}, {'connected_gene': 'KIF26B', 'score': 0.03}]
chr1 GH01I245683 245683455 245684006 0.2 [{'connected_gene': 'ENSG00000231612', 'score': 0.44}, {'connected_gene': 'LOC105373265', 'score': 0.37}, {'connected_gene': 'KIF26B', 'score': 0.03}]