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
ENST00000306077 [[14166439, 14166705], [14170911, 14171061], [14172321, 14172456], [14173079, 14173174], [14174045, 14174095], [14174365, 14174435], [14175238, 14175309], [14176269, 14176391], [14176657, 14176732], [14177306, 14177408], [14180679, 14180797], [14183092, 14185179]] [[14166693, 14166705], [14170911, 14171061], [14172321, 14172456], [14173079, 14173174], [14174045, 14174095], [14174365, 14174435], [14175238, 14175309], [14176269, 14176391], [14176657, 14176732], [14177306, 14177408], [14180679, 14180797], [14183092, 14183295]]
ENST00000432444 [[14166514, 14166705], [14170354, 14170585], [14170911, 14171061], [14172321, 14172456], [14173079, 14173174], [14174045, 14174095], [14174365, 14174421]] [[14166693, 14166705], [14170354, 14170543]]
NM_024334 [[14166439, 14166705], [14170911, 14171061], [14172321, 14172456], [14173079, 14173174], [14174045, 14174095], [14174365, 14174435], [14175238, 14175309], [14176269, 14176391], [14176657, 14176732], [14177306, 14177408], [14180679, 14180797], [14183092, 14185180]] [[14166693, 14166705], [14170911, 14171061], [14172321, 14172456], [14173079, 14173174], [14174045, 14174095], [14174365, 14174435], [14175238, 14175309], [14176269, 14176391], [14176657, 14176732], [14177306, 14177408], [14180679, 14180797], [14183092, 14183295]]
Promoter
Chrom Start End Description
chr3 14166497 14166541 CAGE_peak_4_at_TMEM43_5end
chr3 14166542 14166566 CAGE_peak_3_at_TMEM43_5end
chr3 14166567 14166598 CAGE_peak_2_at_TMEM43_5end
chr3 14166625 14166649 CAGE_peak_1_at_TMEM43_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I014490 14490127 14490638 0.46 [{'connected_gene': 'GRIP2', 'score': 6.39}, {'connected_gene': 'TMEM43', 'score': 5.83}, {'connected_gene': 'GC03M014530', 'score': 0.26}, {'connected_gene': 'RNU6-905P', 'score': 0.26}, {'connected_gene': 'GC03P014432', 'score': 0.22}]
chr3 GH03I013562 13562607 13566892 0.57 [{'connected_gene': 'TMEM43', 'score': 4.98}, {'connected_gene': 'HDAC11', 'score': 4.75}, {'connected_gene': 'GC03P013574', 'score': 0.44}, {'connected_gene': 'FBLN2', 'score': 0.37}]
chr3 GH03I014169 14169854 14172089 0.98 [{'connected_gene': 'TMEM43', 'score': 11.43}, {'connected_gene': 'CHCHD4', 'score': 11.43}, {'connected_gene': 'XPC', 'score': 8.66}, {'connected_gene': 'LSM3', 'score': 0.44}, {'connected_gene': 'ENSG00000228242', 'score': 0.31}]
chr3 GH03I013528 13528779 13530845 0.65 [{'connected_gene': 'XPC', 'score': 17.93}, {'connected_gene': 'ENSG00000228242', 'score': 15.8}, {'connected_gene': 'TMEM43', 'score': 10.51}, {'connected_gene': 'PIR59377', 'score': 0.44}, {'connected_gene': 'FBLN2', 'score': 0.37}]
chr3 GH03I014438 14438497 14442400 1.68 [{'connected_gene': 'XPC', 'score': 33.35}, {'connected_gene': 'CCDC174', 'score': 30.94}, {'connected_gene': 'CAPN7', 'score': 26.37}, {'connected_gene': 'SLC6A6', 'score': 24.17}, {'connected_gene': 'NR2C2', 'score': 20.77}, {'connected_gene': 'SH3BP5-AS1', 'score': 13.91}, {'connected_gene': 'TMEM43', 'score': 12.85}, {'connected_gene': 'ENSG00000228242', 'score': 12.25}, {'connected_gene': 'GC03P014432', 'score': 0.44}, {'connected_gene': 'GC03M014530', 'score': 0.16}, {'connected_gene': 'RNU6-905P', 'score': 0.16}]
chr3 GH03I014156 14156152 14157854 0.2 [{'connected_gene': 'XPC', 'score': 12.14}, {'connected_gene': 'LSM3', 'score': 12.14}, {'connected_gene': 'TMEM43', 'score': 11.88}, {'connected_gene': 'CHCHD4', 'score': 11.88}, {'connected_gene': 'RBSN', 'score': 4.38}, {'connected_gene': 'ENSG00000228242', 'score': 0.39}]
chr3 GH03I014177 14177306 14180101 2.1 [{'connected_gene': 'XPC', 'score': 582.37}, {'connected_gene': 'LSM3', 'score': 572.82}, {'connected_gene': 'CCDC174', 'score': 32.55}, {'connected_gene': 'CHCHD4', 'score': 21.44}, {'connected_gene': 'ENSG00000228242', 'score': 19.06}, {'connected_gene': 'TMEM43', 'score': 16.95}, {'connected_gene': 'NR2C2', 'score': 14.06}, {'connected_gene': 'MRPS25', 'score': 9.72}]
chr3 GH03I015097 15097647 15100022 2.14 [{'connected_gene': 'RBSN', 'score': 550.77}, {'connected_gene': 'GC03M015143', 'score': 550.77}, {'connected_gene': 'NR2C2', 'score': 66.49}, {'connected_gene': 'CCDC174', 'score': 58.67}, {'connected_gene': 'SH3BP5-AS1', 'score': 50.03}, {'connected_gene': 'CAPN7', 'score': 48.58}, {'connected_gene': 'ENSG00000228242', 'score': 38.11}, {'connected_gene': 'XPC', 'score': 32.56}, {'connected_gene': 'MRPS25', 'score': 12.36}, {'connected_gene': 'HACL1', 'score': 10.72}, {'connected_gene': 'FGD5', 'score': 9.94}, {'connected_gene': 'EAF1-AS1', 'score': 9.88}, {'connected_gene': 'TMEM43', 'score': 9.7}, {'connected_gene': 'FGD5-AS1', 'score': 6.97}]
chr3 GH03I013839 13839143 13840530 0.49 [{'connected_gene': 'CCDC174', 'score': 16.65}, {'connected_gene': 'TMEM43', 'score': 12.53}, {'connected_gene': 'XPC', 'score': 12.29}, {'connected_gene': 'WNT7A', 'score': 11.65}, {'connected_gene': 'FGD5', 'score': 10.48}, {'connected_gene': 'GC03M014472', 'score': 0.39}]
chr3 GH03I014369 14369506 14375864 1.69 [{'connected_gene': 'CCDC174', 'score': 24.04}, {'connected_gene': 'XPC', 'score': 16.58}, {'connected_gene': 'TMEM43', 'score': 14.97}, {'connected_gene': 'ENSG00000228242', 'score': 14.36}, {'connected_gene': 'NR2C2', 'score': 14.3}, {'connected_gene': 'SH3BP5-AS1', 'score': 13.42}, {'connected_gene': 'SLC6A6', 'score': 11.8}, {'connected_gene': 'CAPN7', 'score': 11.54}, {'connected_gene': 'LINC01267', 'score': 7.72}, {'connected_gene': 'WNT7A', 'score': 4.6}, {'connected_gene': 'RNA5SP124', 'score': 0.34}]
chr3 GH03I013890 13890306 13891817 1.25 [{'connected_gene': 'LINC00620', 'score': 11.17}, {'connected_gene': 'TMEM43', 'score': 10.23}, {'connected_gene': 'CHCHD4', 'score': 10.23}, {'connected_gene': 'VN1R20P', 'score': 8.0}, {'connected_gene': 'LOC105376957', 'score': 0.77}, {'connected_gene': 'WNT7A', 'score': 0.39}]
chr3 GH03I013647 13647301 13649180 1.13 [{'connected_gene': 'LINC00620', 'score': 21.25}, {'connected_gene': 'XPC', 'score': 17.93}, {'connected_gene': 'ENSG00000228242', 'score': 15.81}, {'connected_gene': 'TMEM43', 'score': 10.53}, {'connected_gene': 'FBLN2', 'score': 4.92}, {'connected_gene': 'LOC100293612', 'score': 0.44}, {'connected_gene': 'GC03M014469', 'score': 0.28}]
chr3 GH03I014122 14122550 14127923 2.59 [{'connected_gene': 'CHCHD4', 'score': 565.83}, {'connected_gene': 'TMEM43', 'score': 557.46}, {'connected_gene': 'CCDC174', 'score': 31.24}, {'connected_gene': 'XPC', 'score': 30.11}, {'connected_gene': 'NR2C2', 'score': 19.28}, {'connected_gene': 'ENSG00000228242', 'score': 12.56}, {'connected_gene': 'VN1R20P', 'score': 7.49}, {'connected_gene': 'TPRXL', 'score': 6.96}, {'connected_gene': 'ENSG00000268279', 'score': 0.44}]
chr3 GH03I014807 14807246 14808879 0.57 [{'connected_gene': 'SH3BP5-AS1', 'score': 18.78}, {'connected_gene': 'CCDC174', 'score': 18.71}, {'connected_gene': 'XPC', 'score': 17.93}, {'connected_gene': 'ENSG00000228242', 'score': 15.8}, {'connected_gene': 'CAPN7', 'score': 14.27}, {'connected_gene': 'TMEM43', 'score': 10.51}, {'connected_gene': 'NR2C2', 'score': 10.3}, {'connected_gene': 'LINC02011', 'score': 0.77}, {'connected_gene': 'FGD5', 'score': 0.77}, {'connected_gene': 'PIR61652', 'score': 0.31}]
chr3 GH03I014450 14450821 14455775 1.63 [{'connected_gene': 'SH3BP5-AS1', 'score': 30.54}, {'connected_gene': 'CCDC174', 'score': 28.37}, {'connected_gene': 'SLC6A6', 'score': 26.36}, {'connected_gene': 'CAPN7', 'score': 25.99}, {'connected_gene': 'NR2C2', 'score': 25.73}, {'connected_gene': 'ENSG00000228242', 'score': 22.03}, {'connected_gene': 'XPC', 'score': 20.81}, {'connected_gene': 'METTL6', 'score': 10.22}, {'connected_gene': 'FGD5', 'score': 9.93}, {'connected_gene': 'TMEM43', 'score': 9.73}, {'connected_gene': 'GC03P014432', 'score': 0.34}, {'connected_gene': 'GC03M014530', 'score': 0.18}, {'connected_gene': 'RNU6-905P', 'score': 0.18}]
chr3 GH03I014136 14136261 14138394 0.8 [{'connected_gene': 'VN1R20P', 'score': 14.55}, {'connected_gene': 'TMEM43', 'score': 6.4}, {'connected_gene': 'ENSG00000268279', 'score': 0.77}, {'connected_gene': 'ENSG00000228242', 'score': 0.44}]
chr3 GH03I014138 14138601 14140122 0.52 [{'connected_gene': 'VN1R20P', 'score': 14.58}, {'connected_gene': 'ENSG00000228242', 'score': 10.08}, {'connected_gene': 'CCDC174', 'score': 9.66}, {'connected_gene': 'LSM3', 'score': 8.34}, {'connected_gene': 'ENSG00000268279', 'score': 0.77}, {'connected_gene': 'TMEM43', 'score': 0.39}]
chr3 GH03I014839 14837095 14838481 0.89 [{'connected_gene': 'ENSG00000230172', 'score': 10.96}, {'connected_gene': 'C3orf20', 'score': 10.63}, {'connected_gene': 'TMEM43', 'score': 5.13}, {'connected_gene': 'PIR49239', 'score': 0.37}, {'connected_gene': 'FGD5', 'score': 0.31}, {'connected_gene': 'LOC105376963', 'score': 0.18}]
chr3 GH03I014166 14166620 14168549 0.2 [{'connected_gene': 'ENSG00000228242', 'score': 12.53}, {'connected_gene': 'TMEM43', 'score': 11.44}, {'connected_gene': 'CHCHD4', 'score': 11.44}, {'connected_gene': 'XPC', 'score': 6.99}, {'connected_gene': 'LSM3', 'score': 0.39}]
chr3 GH03I014132 14132785 14133950 0.66 [{'connected_gene': 'ENSG00000268279', 'score': 550.77}, {'connected_gene': 'XPC', 'score': 17.57}, {'connected_gene': 'LSM3', 'score': 10.75}, {'connected_gene': 'CHCHD4', 'score': 7.22}, {'connected_gene': 'TPRXL', 'score': 6.88}, {'connected_gene': 'TMEM43', 'score': 0.44}]
chr3 GH03I014140 14140511 14149010 1.36 [{'connected_gene': 'ENSG00000228242', 'score': 550.77}, {'connected_gene': 'XPC', 'score': 19.87}, {'connected_gene': 'VN1R20P', 'score': 14.53}, {'connected_gene': 'LSM3', 'score': 12.32}, {'connected_gene': 'CHCHD4', 'score': 9.02}, {'connected_gene': 'TMEM43', 'score': 5.21}, {'connected_gene': 'RBSN', 'score': 4.44}, {'connected_gene': 'ENSG00000268279', 'score': 0.44}]