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
ENST00000317204 [[1295600, 1298483], [1307231, 1307322], [1309853, 1310006], [1311456, 1311639], [1316874, 1317024], [1330695, 1330852]] [[1298268, 1298483], [1307231, 1307322], [1309853, 1310006], [1311456, 1311639], [1316874, 1317024], [1330695, 1330728]]
ENST00000527886 [[1295601, 1298483], [1307231, 1307322], [1309853, 1310006], [1311456, 1311639], [1316874, 1317024], [1323813, 1324020]] [[1298268, 1298483], [1307231, 1307322], [1309853, 1310006], [1311456, 1311615]]
ENST00000525159 [[1295602, 1298483], [1307231, 1307322], [1309853, 1310006], [1316874, 1317024], [1330695, 1330849]] [[1298268, 1298483], [1307231, 1307322], [1309853, 1310006], [1316874, 1317024], [1330695, 1330728]]
ENST00000263646 [[1296882, 1298483], [1307231, 1307322], [1309853, 1310006], [1311456, 1311639], [1316874, 1316961], [1330716, 1330884]] [[1298268, 1298483], [1307231, 1307322], [1309853, 1310006], [1311456, 1311639], [1316874, 1316961], [1330716, 1330728]]
ENST00000542915 [[1296885, 1298483], [1307231, 1307322], [1309853, 1310006], [1311456, 1311639], [1330695, 1330853]] [[1298268, 1298483], [1307231, 1307322], [1309853, 1310006], [1311456, 1311639], [1330695, 1330728]]
ENST00000530506 [[1298046, 1298483], [1304512, 1304827], [1307231, 1307322], [1309853, 1310006], [1311456, 1311639], [1330695, 1330813]] [[1304747, 1304827], [1307231, 1307322], [1309853, 1310006], [1311456, 1311639], [1330695, 1330728]]
ENST00000527938 [[1298242, 1298483], [1316874, 1317024], [1330695, 1330853]] [[1298423, 1298483], [1316874, 1317024], [1330695, 1330728]]
ENST00000530541 [[1298384, 1298483], [1307231, 1307322], [1309853, 1310006], [1311456, 1311639], [1330695, 1330853]] [[1298384, 1298483], [1307231, 1307322], [1309853, 1310006], [1311456, 1311639], [1330695, 1330728]]
ENST00000528719 [[1309865, 1310006], [1311456, 1311639], [1313055, 1313400]] None
ENST00000527746 [[1311324, 1311639], [1316874, 1317024], [1330695, 1330820]] None
ENST00000527638 [[1312144, 1312423], [1316874, 1317024], [1330695, 1330827]] None
ENST00000532551 [[1316606, 1317024], [1330695, 1330853]] None
ENST00000530821 [[1316968, 1317024], [1327052, 1327424]] None
ENST00000527085 [[1319378, 1319794], [1330695, 1330874]] None
NM_001318514 [[1295597, 1298483], [1307231, 1307322], [1309853, 1310006], [1311456, 1311639], [1316874, 1317024], [1323813, 1324020]] [[1298268, 1298483], [1307231, 1307322], [1309853, 1310006], [1311456, 1311615]]
NM_019009 [[1295597, 1298483], [1307231, 1307322], [1309853, 1310006], [1311456, 1311639], [1316874, 1317024], [1330695, 1330892]] [[1298268, 1298483], [1307231, 1307322], [1309853, 1310006], [1311456, 1311639], [1316874, 1317024], [1330695, 1330728]]
NM_001318516 [[1295597, 1298483], [1307231, 1307322], [1309853, 1310006], [1316874, 1317024], [1330695, 1330892]] [[1298268, 1298483], [1307231, 1307322], [1309853, 1310006], [1316874, 1317024], [1330695, 1330728]]
NM_001318515 [[1295597, 1298483], [1316874, 1317024], [1330695, 1330892]] [[1298423, 1298483], [1316874, 1317024], [1330695, 1330728]]
NM_001318512 [[1295597, 1298483], [1307231, 1307322], [1309853, 1310006], [1311456, 1311639], [1330695, 1330892]] [[1298268, 1298483], [1307231, 1307322], [1309853, 1310006], [1311456, 1311639], [1330695, 1330728]]
Promoter
Chrom Start End Description
chr11 1313328 1313339 CAGE_peak_3_at_TOLLIP_5end
chr11 1330813 1330833 CAGE_peak_2_at_TOLLIP_5end
chr11 1330834 1330875 CAGE_peak_1_at_TOLLIP_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I001287 1287862 1294200 0.46 [{'connected_gene': 'BRSK2', 'score': 8.01}, {'connected_gene': 'TOLLIP-AS1', 'score': 7.82}, {'connected_gene': 'ENSG00000255237', 'score': 4.39}, {'connected_gene': 'LOC105376512', 'score': 0.39}, {'connected_gene': 'PIR51627', 'score': 0.37}, {'connected_gene': 'GC11M001275', 'score': 0.37}, {'connected_gene': 'TOLLIP', 'score': 0.37}]
chr11 GH11I001770 1770041 1773855 1.65 [{'connected_gene': 'SNORA52', 'score': 26.44}, {'connected_gene': 'TSPAN4', 'score': 25.02}, {'connected_gene': 'PIDD1', 'score': 22.73}, {'connected_gene': 'IFITM10', 'score': 17.91}, {'connected_gene': 'TNNI2', 'score': 17.45}, {'connected_gene': 'ENSG00000255142', 'score': 12.46}, {'connected_gene': 'SYT8', 'score': 11.4}, {'connected_gene': 'KRTAP5-6', 'score': 11.06}, {'connected_gene': 'LOC100505570', 'score': 11.04}, {'connected_gene': 'FAM99B', 'score': 11.03}, {'connected_gene': 'RPLP2', 'score': 10.43}, {'connected_gene': 'TSSC4', 'score': 10.31}, {'connected_gene': 'RPL26P30', 'score': 10.1}, {'connected_gene': 'LSP1', 'score': 9.87}, {'connected_gene': 'ENSG00000235027', 'score': 7.01}, {'connected_gene': 'TOLLIP', 'score': 2.08}, {'connected_gene': 'CTSD', 'score': 1.83}, {'connected_gene': 'MOB2', 'score': 1.45}, {'connected_gene': 'LOC105376517', 'score': 0.44}]
chr11 GH11I001297 1297153 1301052 1.54 [{'connected_gene': 'PIDD1', 'score': 12.83}, {'connected_gene': 'DRD4', 'score': 12.64}, {'connected_gene': 'TMEM80', 'score': 11.07}, {'connected_gene': 'GATD1', 'score': 10.77}, {'connected_gene': 'ENSG00000255142', 'score': 10.74}, {'connected_gene': 'ENSG00000255158', 'score': 10.2}, {'connected_gene': 'BRSK2', 'score': 9.59}, {'connected_gene': 'TOLLIP-AS1', 'score': 7.91}, {'connected_gene': 'TOLLIP', 'score': 2.45}, {'connected_gene': 'DUSP8', 'score': 1.77}, {'connected_gene': 'LOC105376512', 'score': 0.77}, {'connected_gene': 'GC11M001275', 'score': 0.34}, {'connected_gene': 'PIR51627', 'score': 0.34}]
chr11 GH11I001301 1301488 1312143 2.68 [{'connected_gene': 'TOLLIP', 'score': 567.47}, {'connected_gene': 'TSPAN4', 'score': 15.23}, {'connected_gene': 'TMEM80', 'score': 12.55}, {'connected_gene': 'SNORA52', 'score': 11.97}, {'connected_gene': 'PHRF1', 'score': 11.74}, {'connected_gene': 'ENSG00000255237', 'score': 10.44}, {'connected_gene': 'PIDD1', 'score': 10.06}, {'connected_gene': 'BRSK2', 'score': 9.45}, {'connected_gene': 'TOLLIP-AS1', 'score': 9.07}, {'connected_gene': 'DUSP8', 'score': 2.49}, {'connected_gene': 'LOC105376512', 'score': 0.77}, {'connected_gene': 'GC11P001310', 'score': 0.77}, {'connected_gene': 'GC11P001309', 'score': 0.77}]
chr11 GH11I001326 1326635 1327500 0.56 [{'connected_gene': 'TOLLIP', 'score': 14.1}, {'connected_gene': 'MUC5AC', 'score': 11.34}, {'connected_gene': 'GC11P001310', 'score': 0.37}, {'connected_gene': 'LOC105376513', 'score': 0.34}]
chr11 GH11I001264 1264229 1264801 1.22 [{'connected_gene': 'TOLLIP', 'score': 1.67}, {'connected_gene': 'GC11P001258', 'score': 0.44}, {'connected_gene': 'GC11M001267', 'score': 0.44}, {'connected_gene': 'GC11P001257', 'score': 0.44}]
chr11 GH11I001780 1780590 1783999 1.55 [{'connected_gene': 'LSP1', 'score': 13.79}, {'connected_gene': 'TNNI2', 'score': 10.2}, {'connected_gene': 'ENSG00000250397', 'score': 5.31}, {'connected_gene': 'SYT8', 'score': 5.12}, {'connected_gene': 'TOLLIP', 'score': 1.84}, {'connected_gene': 'LOC105376517', 'score': 0.77}, {'connected_gene': 'RPL36AP39', 'score': 0.39}]
chr11 GH11I001553 1553733 1553943 0.31 [{'connected_gene': 'KRTAP5-1', 'score': 13.42}, {'connected_gene': 'KRTAP5-2', 'score': 12.02}, {'connected_gene': 'TOLLIP-AS1', 'score': 10.8}, {'connected_gene': 'TOLLIP', 'score': 10.8}, {'connected_gene': 'KRTAP5-AS1', 'score': 8.43}, {'connected_gene': 'LOC101927562', 'score': 0.77}, {'connected_gene': 'GC11P001533', 'score': 0.34}]
chr11 GH11I001335 1335242 1338039 1.27 [{'connected_gene': 'TMEM80', 'score': 16.1}, {'connected_gene': 'PHRF1', 'score': 15.82}, {'connected_gene': 'PIDD1', 'score': 14.44}, {'connected_gene': 'SNORA52', 'score': 12.17}, {'connected_gene': 'ENSG00000255237', 'score': 11.05}, {'connected_gene': 'TOLLIP', 'score': 10.93}, {'connected_gene': 'TSPAN4', 'score': 10.2}, {'connected_gene': 'TOLLIP-AS1', 'score': 5.09}, {'connected_gene': 'BRSK2', 'score': 2.48}, {'connected_gene': 'LOC105376513', 'score': 0.39}, {'connected_gene': 'GC11P001310', 'score': 0.31}]
chr11 GH11I001231 1231968 1235143 0.52 [{'connected_gene': 'TOLLIP-AS1', 'score': 11.43}, {'connected_gene': 'TOLLIP', 'score': 11.43}, {'connected_gene': 'MOB2', 'score': 11.05}, {'connected_gene': 'GC11M001230', 'score': 0.77}, {'connected_gene': 'GC11P001248', 'score': 0.39}, {'connected_gene': 'MUC5B', 'score': 0.39}]
chr11 GH11I001281 1281099 1282354 0.2 [{'connected_gene': 'TOLLIP-AS1', 'score': 12.66}, {'connected_gene': 'TOLLIP', 'score': 12.66}, {'connected_gene': 'ENSG00000255177', 'score': 12.34}, {'connected_gene': 'MUC5B', 'score': 12.27}, {'connected_gene': 'MOB2', 'score': 10.47}, {'connected_gene': 'PIR51627', 'score': 0.44}, {'connected_gene': 'GC11M001275', 'score': 0.44}, {'connected_gene': 'LOC105376512', 'score': 0.34}]
chr11 GH11I001295 1295060 1296282 0.2 [{'connected_gene': 'TOLLIP-AS1', 'score': 7.47}, {'connected_gene': 'LOC105376512', 'score': 0.44}, {'connected_gene': 'TOLLIP', 'score': 0.39}, {'connected_gene': 'PIR51627', 'score': 0.37}, {'connected_gene': 'GC11M001275', 'score': 0.37}]
chr11 GH11I001530 1530712 1533801 0.69 [{'connected_gene': 'GC11P001533', 'score': 550.77}, {'connected_gene': 'MOB2', 'score': 21.2}, {'connected_gene': 'KRTAP5-AS1', 'score': 17.57}, {'connected_gene': 'TOLLIP-AS1', 'score': 10.71}, {'connected_gene': 'TOLLIP', 'score': 10.71}, {'connected_gene': 'KRTAP5-5', 'score': 10.3}, {'connected_gene': 'GATD1', 'score': 4.55}, {'connected_gene': 'GC11M001525', 'score': 0.77}]
chr11 GH11I001533 1533908 1536791 0.49 [{'connected_gene': 'GC11P001533', 'score': 550.77}, {'connected_gene': 'MOB2', 'score': 21.35}, {'connected_gene': 'KRTAP5-AS1', 'score': 17.26}, {'connected_gene': 'TOLLIP-AS1', 'score': 10.72}, {'connected_gene': 'TOLLIP', 'score': 10.72}, {'connected_gene': 'LOC101927562', 'score': 0.34}]
chr11 GH11I001384 1384283 1385502 0.2 [{'connected_gene': 'GC11P001384', 'score': 550.77}, {'connected_gene': 'GC11M001373', 'score': 550.77}, {'connected_gene': 'TOLLIP-AS1', 'score': 11.5}, {'connected_gene': 'TOLLIP', 'score': 11.5}, {'connected_gene': 'MOB2', 'score': 11.15}, {'connected_gene': 'BRSK2', 'score': 6.99}]
chr11 GH11I001382 1382361 1384020 1.34 [{'connected_gene': 'GC11P001384', 'score': 550.77}, {'connected_gene': 'GC11M001373', 'score': 550.77}, {'connected_gene': 'TOLLIP-AS1', 'score': 16.94}, {'connected_gene': 'TOLLIP', 'score': 11.51}, {'connected_gene': 'MOB2', 'score': 10.72}, {'connected_gene': 'DUSP8', 'score': 10.1}, {'connected_gene': 'BRSK2', 'score': 3.26}, {'connected_gene': 'IFITM10', 'score': 1.76}]
chr11 GH11I001274 1274944 1280542 0.31 [{'connected_gene': 'GC11M001275', 'score': 550.77}, {'connected_gene': 'PIR51627', 'score': 550.77}, {'connected_gene': 'TOLLIP-AS1', 'score': 20.11}, {'connected_gene': 'TOLLIP', 'score': 12.64}, {'connected_gene': 'ENSG00000255177', 'score': 12.36}, {'connected_gene': 'MUC5B', 'score': 12.28}, {'connected_gene': 'MOB2', 'score': 10.47}, {'connected_gene': 'BRSK2', 'score': 7.92}, {'connected_gene': 'PIR57200', 'score': 0.77}, {'connected_gene': 'LOC105376512', 'score': 0.34}]
chr11 GH11I001524 1523891 1524040 0.31 [{'connected_gene': 'GC11M001520', 'score': 550.77}, {'connected_gene': 'TOLLIP-AS1', 'score': 10.48}, {'connected_gene': 'TOLLIP', 'score': 10.48}, {'connected_gene': 'KRTAP5-AS1', 'score': 9.62}, {'connected_gene': 'GC11M001525', 'score': 0.44}]
chr11 GH11I001269 1269565 1271670 0.66 [{'connected_gene': 'GC11M001267', 'score': 550.77}, {'connected_gene': 'TOLLIP-AS1', 'score': 12.06}, {'connected_gene': 'TOLLIP', 'score': 12.06}, {'connected_gene': 'PIR60580', 'score': 0.77}, {'connected_gene': 'GC11P001274', 'score': 0.77}]

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