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
ENST00000263663 [[9983482, 9983688], [9985348, 9985447], [9989501, 9989589], [9991669, 9991767], [9994454, 9994550], [10008404, 10008558], [10015993, 10016147], [10022834, 10022934], [10044987, 10045135], [10050864, 10051042], [10051639, 10051686], [10053287, 10053378], [10059169, 10059240], [10059726, 10059949], [10073911, 10074545]] [[9983670, 9983688], [9985348, 9985447], [9989501, 9989589], [9991669, 9991767], [9994454, 9994550], [10008404, 10008558], [10015993, 10016147], [10022834, 10022934], [10044987, 10045135], [10050864, 10051042], [10051639, 10051686], [10053287, 10053378], [10059169, 10059240], [10059726, 10059949], [10073911, 10074113]]
ENST00000402170 [[9983610, 9983688], [9985348, 9985447], [9989501, 9989589], [9991669, 9991767], [9994454, 9994550], [10008404, 10008558], [10008791, 10008893]] None
ENST00000404869 [[9983625, 9983688], [9985348, 9985447], [9989501, 9989589], [9991669, 9991767], [9992096, 9992253]] None
ENST00000497182 [[9983647, 9983688], [9985348, 9985949]] None
ENST00000396242 [[9983651, 9983688], [9985348, 9985447], [9986185, 9986315], [9989501, 9989589], [9991669, 9991767], [9994454, 9994550], [10008404, 10008558], [10022834, 10022934], [10044987, 10045135], [10050864, 10051042], [10051639, 10051686], [10053287, 10053378], [10059169, 10059240], [10059726, 10059949], [10073911, 10074282]] [[10022892, 10022934], [10044987, 10045135], [10050864, 10051042], [10051639, 10051686], [10053287, 10053378], [10059169, 10059240], [10059726, 10059949], [10073911, 10074113]]
ENST00000434858 [[9983653, 9983688], [9985348, 9985447], [9989501, 9989589], [9991669, 9991767], [9994454, 9994550], [10008404, 10008558], [10022834, 10022934], [10044987, 10045135], [10050864, 10051042], [10051639, 10051686], [10053287, 10053378], [10059169, 10059240], [10059726, 10059949], [10073911, 10074075]] [[9983670, 9983688], [9985348, 9985447], [9989501, 9989589], [9991669, 9991767], [9994454, 9994550], [10008404, 10008558], [10022834, 10022866]]
ENST00000416181 [[9983655, 9983688], [9985348, 9985447], [9986185, 9986315], [9989501, 9989536]] [[9983670, 9983688], [9985348, 9985447], [9986185, 9986242]]
ENST00000469895 [[9983713, 9983872], [9985348, 9985447], [9989501, 9989589], [9991669, 9991767], [9994454, 9994550], [10008404, 10008545]] None
ENST00000480197 [[9983831, 9983903], [9985348, 9985447], [9989501, 9989589], [9991669, 9991767], [9994454, 9994550], [10008404, 10008505]] None
ENST00000490432 [[9983851, 9983903], [9984470, 9984606], [9985348, 9985447], [9989501, 9989589], [9991669, 9991767], [9992096, 9992243]] None
ENST00000492648 [[10016126, 10016147], [10022834, 10022934], [10044987, 10045135], [10050864, 10051042], [10051639, 10051686], [10053287, 10053838]] [[10016126, 10016147], [10022834, 10022934], [10044987, 10045135], [10050864, 10051042], [10051639, 10051686], [10053287, 10053442]]
NM_001318977 [[9983570, 9983688], [9985348, 9985447], [9989501, 9989589], [9991669, 9991767], [9994454, 9994550], [10008404, 10008558], [10022834, 10022934], [10044987, 10045135], [10050864, 10051042], [10051639, 10051686], [10053287, 10053378], [10059169, 10059240], [10059726, 10059949], [10073911, 10074545]] [[10022892, 10022934], [10044987, 10045135], [10050864, 10051042], [10051639, 10051686], [10053287, 10053378], [10059169, 10059240], [10059726, 10059949], [10073911, 10074113]]
NM_005680 [[9983570, 9983688], [9985348, 9985447], [9989501, 9989589], [9991669, 9991767], [9994454, 9994550], [10008404, 10008558], [10015993, 10016147], [10022834, 10022934], [10044987, 10045135], [10050864, 10051042], [10051639, 10051686], [10053287, 10053378], [10059169, 10059240], [10059726, 10059949], [10073911, 10074545]] [[9983670, 9983688], [9985348, 9985447], [9989501, 9989589], [9991669, 9991767], [9994454, 9994550], [10008404, 10008558], [10015993, 10016147], [10022834, 10022934], [10044987, 10045135], [10050864, 10051042], [10051639, 10051686], [10053287, 10053378], [10059169, 10059240], [10059726, 10059949], [10073911, 10074113]]
NM_001318976 [[9983570, 9983688], [9985348, 9985447], [9986185, 9986315], [9989501, 9989589], [9991669, 9991767], [9994454, 9994550], [10008404, 10008558], [10022834, 10022934], [10044987, 10045135], [10050864, 10051042], [10051639, 10051686], [10053287, 10053378], [10059169, 10059240], [10059726, 10059949], [10073911, 10074545]] [[10022892, 10022934], [10044987, 10045135], [10050864, 10051042], [10051639, 10051686], [10053287, 10053378], [10059169, 10059240], [10059726, 10059949], [10073911, 10074113]]
Promoter
Chrom Start End Description
chr2 9983555 9983641 CAGE_peak_1_at_TAF1B_5end
chr2 9983642 9983657 CAGE_peak_2_at_TAF1B_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I009914 9914126 9915401 0.91 [{'connected_gene': 'TAF1B', 'score': 16.18}, {'connected_gene': 'GRHL1', 'score': 11.65}, {'connected_gene': 'ENSG00000269973', 'score': 9.82}]
chr2 GH02I010220 10220455 10221702 0.49 [{'connected_gene': 'TAF1B', 'score': 4.37}, {'connected_gene': 'LOC105373424', 'score': 0.37}, {'connected_gene': 'RN7SL66P', 'score': 0.22}]
chr2 GH02I009939 9939367 9940305 0.49 [{'connected_gene': 'TAF1B', 'score': 13.93}, {'connected_gene': 'ENSG00000269973', 'score': 7.55}, {'connected_gene': 'LOC105373422', 'score': 0.39}]
chr2 GH02I009942 9942674 9943409 0.2 [{'connected_gene': 'TAF1B', 'score': 12.49}, {'connected_gene': 'LOC105373422', 'score': 0.44}, {'connected_gene': 'ENSG00000269973', 'score': 0.44}]
chr2 GH02I009944 9944358 9944988 0.87 [{'connected_gene': 'TAF1B', 'score': 12.75}, {'connected_gene': 'ENSG00000269973', 'score': 8.04}, {'connected_gene': 'LOC105373422', 'score': 0.44}]
chr2 GH02I009940 9940707 9942034 1.16 [{'connected_gene': 'TAF1B', 'score': 13.4}, {'connected_gene': 'ENSG00000269973', 'score': 7.16}, {'connected_gene': 'LOC105373422', 'score': 0.44}]
chr2 GH02I009813 9813430 9814305 1.23 [{'connected_gene': 'TAF1B', 'score': 7.23}, {'connected_gene': 'LOC105373421', 'score': 0.44}]
chr2 GH02I009819 9819519 9820855 0.83 [{'connected_gene': 'TAF1B', 'score': 38.38}, {'connected_gene': 'ENSG00000269973', 'score': 20.78}, {'connected_gene': 'LOC105373421', 'score': 0.39}]
chr2 GH02I010429 10429965 10435755 1.67 [{'connected_gene': 'TAF1B', 'score': 31.73}, {'connected_gene': 'LOC101929882', 'score': 28.23}, {'connected_gene': 'KLF11', 'score': 19.21}, {'connected_gene': 'NOL10', 'score': 18.64}, {'connected_gene': 'C2orf48', 'score': 11.35}, {'connected_gene': 'ENSG00000217258', 'score': 11.32}, {'connected_gene': 'YWHAQ', 'score': 11.31}, {'connected_gene': 'ENSG00000239300', 'score': 10.71}, {'connected_gene': 'CYS1', 'score': 10.4}, {'connected_gene': 'ENSG00000233502', 'score': 10.4}, {'connected_gene': 'ENSG00000257135', 'score': 10.39}, {'connected_gene': 'IAH1', 'score': 6.04}, {'connected_gene': 'GC02M010446', 'score': 0.39}, {'connected_gene': 'SNORA80B', 'score': 0.39}, {'connected_gene': 'PIR41580', 'score': 0.34}]
chr2 GH02I009216 9216600 9220289 0.62 [{'connected_gene': 'TAF1B', 'score': 13.32}, {'connected_gene': 'LOC101929882', 'score': 9.78}, {'connected_gene': 'ADAM17', 'score': 4.9}, {'connected_gene': 'ITGB1BP1', 'score': 4.32}, {'connected_gene': 'ASAP2', 'score': 0.39}, {'connected_gene': 'GC02M009211', 'score': 0.34}]
chr2 GH02I009842 9842538 9845442 2.27 [{'connected_gene': 'TAF1B', 'score': 613.93}, {'connected_gene': 'LOC101929882', 'score': 32.35}, {'connected_gene': 'CPSF3', 'score': 14.76}, {'connected_gene': 'ENSG00000269973', 'score': 11.71}, {'connected_gene': 'NOL10', 'score': 11.48}, {'connected_gene': 'ENSG00000239300', 'score': 10.01}]
chr2 GH02I010016 10016235 10020664 0.87 [{'connected_gene': 'TAF1B', 'score': 12.86}, {'connected_gene': 'LOC101929882', 'score': 5.33}, {'connected_gene': 'GRHL1', 'score': 5.06}, {'connected_gene': 'ENSG00000260476', 'score': 0.77}, {'connected_gene': 'PIR44200', 'score': 0.39}]
chr2 GH02I010011 10011435 10011808 0.58 [{'connected_gene': 'TAF1B', 'score': 10.09}, {'connected_gene': 'PIR44200', 'score': 0.77}, {'connected_gene': 'ENSG00000260476', 'score': 0.44}]
chr2 GH02I009877 9877184 9878423 0.2 [{'connected_gene': 'TAF1B', 'score': 14.96}, {'connected_gene': 'ENSG00000269973', 'score': 11.48}]
chr2 GH02I009894 9894868 9898699 1.2 [{'connected_gene': 'TAF1B', 'score': 24.35}, {'connected_gene': 'ENSG00000269973', 'score': 10.94}]
chr2 GH02I009918 9918458 9918975 0.2 [{'connected_gene': 'TAF1B', 'score': 14.4}, {'connected_gene': 'ENSG00000269973', 'score': 9.85}]
chr2 GH02I009169 9169694 9171446 1.1 [{'connected_gene': 'ASAP2', 'score': 18.21}, {'connected_gene': 'LOC101929882', 'score': 13.42}, {'connected_gene': 'TAF1B', 'score': 12.08}, {'connected_gene': 'ITGB1BP1', 'score': 10.38}, {'connected_gene': 'CPSF3', 'score': 10.38}, {'connected_gene': 'ADAM17', 'score': 5.72}, {'connected_gene': 'LOC105373417', 'score': 0.34}, {'connected_gene': 'LOC100506317', 'score': 0.28}]
chr2 GH02I010574 10574725 10577575 0.83 [{'connected_gene': 'NOL10', 'score': 51.62}, {'connected_gene': 'RN7SL832P', 'score': 21.24}, {'connected_gene': 'TAF1B', 'score': 13.32}, {'connected_gene': 'LOC101929882', 'score': 9.78}, {'connected_gene': 'ENSG00000234818', 'score': 0.39}, {'connected_gene': 'LOC105373426', 'score': 0.31}]
chr2 GH02I010513 10513945 10516004 0.8 [{'connected_gene': 'NOL10', 'score': 11.34}, {'connected_gene': 'LOC101929882', 'score': 11.15}, {'connected_gene': 'TAF1B', 'score': 9.88}, {'connected_gene': 'ODC1', 'score': 5.51}, {'connected_gene': 'LOC105373426', 'score': 0.29}, {'connected_gene': 'PIR33833', 'score': 0.22}]
chr2 GH02I009546 9546928 9557411 2.64 [{'connected_gene': 'ADAM17', 'score': 579.56}, {'connected_gene': 'CPSF3', 'score': 23.02}, {'connected_gene': 'LOC101929882', 'score': 12.49}, {'connected_gene': 'TAF1B', 'score': 10.6}, {'connected_gene': 'ENSG00000239300', 'score': 10.2}, {'connected_gene': 'IAH1', 'score': 10.14}, {'connected_gene': 'ENSG00000271855', 'score': 9.91}]
chr2 GH02I010119 10119383 10125485 2.63 [{'connected_gene': 'RRM2', 'score': 563.82}, {'connected_gene': 'ENSG00000284681', 'score': 550.77}, {'connected_gene': 'LOC101929882', 'score': 21.81}, {'connected_gene': 'ENSG00000233502', 'score': 11.78}, {'connected_gene': 'CYS1', 'score': 11.76}, {'connected_gene': 'TAF1B', 'score': 11.1}, {'connected_gene': 'SNORA80B', 'score': 10.78}, {'connected_gene': 'HPCAL1', 'score': 10.68}, {'connected_gene': 'LOC101929691', 'score': 10.09}, {'connected_gene': 'ODC1', 'score': 2.58}]
chr2 GH02I009421 9421806 9425235 2.28 [{'connected_gene': 'CPSF3', 'score': 562.2}, {'connected_gene': 'ITGB1BP1', 'score': 550.77}, {'connected_gene': 'TAF1B', 'score': 13.19}, {'connected_gene': 'ENSG00000239300', 'score': 10.86}, {'connected_gene': 'IAH1', 'score': 10.78}, {'connected_gene': 'ASAP2', 'score': 10.39}, {'connected_gene': 'ADAM17', 'score': 9.57}, {'connected_gene': 'GC02M009313', 'score': 0.14}]
chr2 GH02I010392 10392597 10394344 1.33 [{'connected_gene': 'HPCAL1', 'score': 17.06}, {'connected_gene': 'TAF1B', 'score': 10.02}, {'connected_gene': 'PIR41580', 'score': 0.37}]
chr2 GH02I010379 10379802 10391280 1.46 [{'connected_gene': 'HPCAL1', 'score': 21.57}, {'connected_gene': 'NOL10', 'score': 15.36}, {'connected_gene': 'LOC101929691', 'score': 12.03}, {'connected_gene': 'LOC101929882', 'score': 11.27}, {'connected_gene': 'TAF1B', 'score': 10.52}, {'connected_gene': 'ENSG00000269973', 'score': 5.15}, {'connected_gene': 'PIR41580', 'score': 0.34}]
chr2 GH02I010327 10327657 10333761 2.14 [{'connected_gene': 'HPCAL1', 'score': 596.14}, {'connected_gene': 'LOC101929691', 'score': 11.69}, {'connected_gene': 'SNORA80B', 'score': 10.35}, {'connected_gene': 'TAF1B', 'score': 4.51}, {'connected_gene': 'PIR41580', 'score': 0.18}]
chr2 GH02I009815 9815821 9816280 0.38 [{'connected_gene': 'GRHL1', 'score': 11.89}, {'connected_gene': 'TAF1B', 'score': 2.91}, {'connected_gene': 'LOC105373421', 'score': 0.44}]
chr2 GH02I009810 9810987 9812824 0.66 [{'connected_gene': 'CYS1', 'score': 11.16}, {'connected_gene': 'ENSG00000233502', 'score': 11.16}, {'connected_gene': 'TAF1B', 'score': 7.24}, {'connected_gene': 'ENSG00000269973', 'score': 6.93}, {'connected_gene': 'LOC105373421', 'score': 0.77}]
chr2 GH02I009002 9002504 9005359 1.99 [{'connected_gene': 'MBOAT2', 'score': 550.77}, {'connected_gene': 'ENSG00000239300', 'score': 16.5}, {'connected_gene': 'CPSF3', 'score': 16.13}, {'connected_gene': 'TAF1B', 'score': 12.79}, {'connected_gene': 'HMGB1P25', 'score': 0.39}]
chr2 GH02I009627 9627686 9633322 2.28 [{'connected_gene': 'YWHAQ', 'score': 555.98}, {'connected_gene': 'LOC101929882', 'score': 30.39}, {'connected_gene': 'ENSG00000239300', 'score': 16.6}, {'connected_gene': 'CPSF3', 'score': 16.17}, {'connected_gene': 'RNU4-73P', 'score': 11.22}, {'connected_gene': 'ENSG00000240960', 'score': 11.21}, {'connected_gene': 'KLF11', 'score': 10.74}, {'connected_gene': 'TAF1B', 'score': 9.98}, {'connected_gene': 'IAH1', 'score': 5.24}, {'connected_gene': 'ENSG00000207086', 'score': 0.37}]
chr2 GH02I010688 10688833 10691000 2.05 [{'connected_gene': 'RN7SL832P', 'score': 556.61}, {'connected_gene': 'NOL10', 'score': 550.77}, {'connected_gene': 'ENSG00000277446', 'score': 550.77}, {'connected_gene': 'TAF1B', 'score': 9.93}, {'connected_gene': 'GC02P010687', 'score': 0.77}]
chr2 GH02I009807 9807854 9810198 0.89 [{'connected_gene': 'LOC105373421', 'score': 550.77}, {'connected_gene': 'CYS1', 'score': 11.16}, {'connected_gene': 'ENSG00000233502', 'score': 11.16}, {'connected_gene': 'TAF1B', 'score': 5.52}, {'connected_gene': 'ENSG00000269973', 'score': 4.47}]
chr2 GH02I009221 9221916 9223241 0.38 [{'connected_gene': 'LOC101929882', 'score': 13.42}, {'connected_gene': 'TAF1B', 'score': 11.97}, {'connected_gene': 'ITGB1BP1', 'score': 10.29}, {'connected_gene': 'CPSF3', 'score': 10.29}, {'connected_gene': 'ENSG00000239300', 'score': 10.01}, {'connected_gene': 'ADAM17', 'score': 5.08}, {'connected_gene': 'GC02M009211', 'score': 0.37}, {'connected_gene': 'ASAP2', 'score': 0.37}]
chr2 GH02I010041 10041592 10045951 2.23 [{'connected_gene': 'LOC101929882', 'score': 586.28}, {'connected_gene': 'KLF11', 'score': 555.72}, {'connected_gene': 'ENSG00000233502', 'score': 12.7}, {'connected_gene': 'NOL10', 'score': 12.42}, {'connected_gene': 'TAF1B', 'score': 12.03}, {'connected_gene': 'ENSG00000239300', 'score': 9.98}, {'connected_gene': 'GRHL1', 'score': 4.94}, {'connected_gene': 'ENSG00000271787', 'score': 0.39}]
chr2 GH02I010007 10007000 10007201 0.69 [{'connected_gene': 'PIR60135', 'score': 550.77}, {'connected_gene': 'PIR44200', 'score': 550.77}, {'connected_gene': 'ENSG00000188525', 'score': 550.77}, {'connected_gene': 'TAF1B', 'score': 10.09}, {'connected_gene': 'GRHL1', 'score': 5.27}, {'connected_gene': 'LOC101929882', 'score': 5.16}]
chr2 GH02I010006 10006733 10006882 0.69 [{'connected_gene': 'PIR60135', 'score': 550.77}, {'connected_gene': 'PIR44200', 'score': 550.77}, {'connected_gene': 'ENSG00000188525', 'score': 550.77}, {'connected_gene': 'TAF1B', 'score': 10.09}, {'connected_gene': 'GRHL1', 'score': 7.48}]
chr2 GH02I009837 9837092 9837381 0.46 [{'connected_gene': 'ENSG00000269973', 'score': 11.42}, {'connected_gene': 'TAF1B', 'score': 0.44}, {'connected_gene': 'LOC105373421', 'score': 0.31}]
chr2 GH02I009836 9836192 9836979 0.57 [{'connected_gene': 'ENSG00000269973', 'score': 11.42}, {'connected_gene': 'TAF1B', 'score': 0.44}, {'connected_gene': 'LOC105373421', 'score': 0.31}]
chr2 GH02I009934 9934971 9935281 0.27 [{'connected_gene': 'ENSG00000269973', 'score': 556.07}, {'connected_gene': 'TAF1B', 'score': 15.68}]
chr2 GH02I009846 9846062 9847281 0.8 [{'connected_gene': 'ENSG00000269973', 'score': 12.03}, {'connected_gene': 'TAF1B', 'score': 0.77}]
chr2 GH02I010134 10134284 10134595 0.34 [{'connected_gene': 'ENSG00000206647', 'score': 12.08}, {'connected_gene': 'RRM2', 'score': 3.67}, {'connected_gene': 'C2orf48', 'score': 3.5}, {'connected_gene': 'TAF1B', 'score': 1.78}, {'connected_gene': 'ENSG00000284681', 'score': 0.39}]
chr2 GH02I009829 9829912 9832841 1.26 [{'connected_gene': 'ENSG00000269973', 'score': 20.71}, {'connected_gene': 'ENSG00000239300', 'score': 16.52}, {'connected_gene': 'CPSF3', 'score': 16.14}, {'connected_gene': 'NOL10', 'score': 11.36}, {'connected_gene': 'LOC101929882', 'score': 10.66}, {'connected_gene': 'TAF1B', 'score': 0.39}, {'connected_gene': 'LOC105373421', 'score': 0.34}]
chr2 GH02I009821 9821082 9822981 0.43 [{'connected_gene': 'ENSG00000269973', 'score': 19.86}, {'connected_gene': 'LOC105373421', 'score': 0.39}, {'connected_gene': 'TAF1B', 'score': 0.34}]
chr2 GH02I010296 10296477 10298824 1.3 [{'connected_gene': 'GC02M010296', 'score': 550.77}, {'connected_gene': 'LOC101929882', 'score': 13.46}, {'connected_gene': 'TAF1B', 'score': 12.1}, {'connected_gene': 'NOL10', 'score': 11.64}, {'connected_gene': 'LOC101929691', 'score': 0.77}]
chr2 GH02I010446 10446270 10451239 2.3 [{'connected_gene': 'ENSG00000257135', 'score': 561.63}, {'connected_gene': 'SNORA80B', 'score': 550.77}, {'connected_gene': 'ODC1', 'score': 550.77}, {'connected_gene': 'GC02M010446', 'score': 550.77}, {'connected_gene': 'LOC101929715', 'score': 550.77}, {'connected_gene': 'TAF1B', 'score': 10.02}]