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
ENST00000531976 [[1490686, 1491718], [1492524, 1494666]] None
ENST00000329957 [[1491191, 1491718], [1492524, 1492649], [1501622, 1501716], [1501954, 1502115], [1507676, 1507976]] [[1491401, 1491718], [1492524, 1492649], [1501622, 1501716], [1501954, 1502115], [1507676, 1507786]]
ENST00000526462 [[1491474, 1491718], [1492524, 1492649], [1501622, 1501716], [1501954, 1502115], [1522306, 1522477]] None
ENST00000526698 [[1492534, 1492649], [1501622, 1502115]] None
ENST00000529380 [[1501808, 1502115], [1522306, 1522477]] None
ENST00000529897 [[1501894, 1502115], [1502449, 1502815]] None
NM_053005 [[1490677, 1491718], [1492524, 1492649], [1501622, 1501716], [1501954, 1502116]] [[1491401, 1491718], [1492524, 1492649], [1501622, 1501716], [1501954, 1502116]]
NM_001172223 [[1490677, 1491718], [1492524, 1492649], [1501622, 1501716], [1501954, 1502115], [1507676, 1508009]] [[1491401, 1491718], [1492524, 1492649], [1501622, 1501716], [1501954, 1502115], [1507676, 1507786]]
Promoter
Chrom Start End Description
chr11 1507941 1507960 CAGE_peak_3_at_MOB2_5end
chr11 1507965 1507986 CAGE_peak_1_at_MOB2_5end
chr11 1507987 1508013 CAGE_peak_2_at_MOB2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I001424 1424317 1424376 0.5 [{'connected_gene': 'BRSK2', 'score': 550.29}, {'connected_gene': 'MOB2', 'score': 11.46}, {'connected_gene': 'KRTAP5-2', 'score': 11.42}, {'connected_gene': 'GC11P001420', 'score': 0.77}, {'connected_gene': 'PIR40800', 'score': 0.44}, {'connected_gene': 'LOC105376516', 'score': 0.44}]
chr11 GH11I001423 1423304 1424174 0.2 [{'connected_gene': 'MOB2', 'score': 11.46}, {'connected_gene': 'KRTAP5-2', 'score': 11.42}, {'connected_gene': 'LOC692247', 'score': 4.85}, {'connected_gene': 'GC11P001420', 'score': 0.77}, {'connected_gene': 'PIR40800', 'score': 0.44}, {'connected_gene': 'LOC105376516', 'score': 0.44}, {'connected_gene': 'BRSK2', 'score': 0.29}]
chr11 GH11I001458 1458233 1460344 1.03 [{'connected_gene': 'MOB2', 'score': 20.24}, {'connected_gene': 'KRTAP5-AS1', 'score': 7.62}, {'connected_gene': 'LOC105376514', 'score': 0.77}, {'connected_gene': 'GC11M001469', 'score': 0.39}, {'connected_gene': 'PIR38157', 'score': 0.39}, {'connected_gene': 'BRSK2', 'score': 0.2}]
chr11 GH11I001463 1463239 1464517 0.43 [{'connected_gene': 'MOB2', 'score': 20.42}, {'connected_gene': 'KRTAP5-AS1', 'score': 8.2}, {'connected_gene': 'GC11M001469', 'score': 0.44}, {'connected_gene': 'LOC105376514', 'score': 0.44}, {'connected_gene': 'PIR38157', 'score': 0.44}]
chr11 GH11I001515 1515179 1516153 0.85 [{'connected_gene': 'MOB2', 'score': 9.38}, {'connected_gene': 'KRTAP5-AS1', 'score': 8.83}, {'connected_gene': 'GC11M001512', 'score': 0.77}, {'connected_gene': 'GC11M001520', 'score': 0.44}]
chr11 GH11I001485 1485181 1488390 1.52 [{'connected_gene': 'MOB2', 'score': 559.4}, {'connected_gene': 'KRTAP5-AS1', 'score': 15.2}, {'connected_gene': 'GC11P001473', 'score': 0.39}]
chr11 GH11I001502 1502531 1503579 0.54 [{'connected_gene': 'MOB2', 'score': 550.77}, {'connected_gene': 'KRTAP5-AS1', 'score': 15.23}, {'connected_gene': 'GC11P001506', 'score': 0.77}]
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 GH11I001482 1482464 1483725 0.63 [{'connected_gene': 'PIDD1', 'score': 12.81}, {'connected_gene': 'DRD4', 'score': 12.64}, {'connected_gene': 'TMEM80', 'score': 11.07}, {'connected_gene': 'GATD1', 'score': 10.77}, {'connected_gene': 'ENSG00000255142', 'score': 10.73}, {'connected_gene': 'ENSG00000255158', 'score': 10.2}, {'connected_gene': 'KRTAP5-AS1', 'score': 8.07}, {'connected_gene': 'GC11P001473', 'score': 0.44}, {'connected_gene': 'MOB2', 'score': 0.37}]
chr11 GH11I001555 1554331 1554520 0.72 [{'connected_gene': 'KRTAP5-1', 'score': 12.51}, {'connected_gene': 'KRTAP5-2', 'score': 11.74}, {'connected_gene': 'MOB2', 'score': 10.73}, {'connected_gene': 'LOC101927562', 'score': 0.77}, {'connected_gene': 'DUSP8', 'score': 0.37}, {'connected_gene': 'GC11P001533', 'score': 0.34}]
chr11 GH11I001545 1545734 1549956 1.53 [{'connected_gene': 'KRTAP5-AS1', 'score': 20.26}, {'connected_gene': 'MOB2', 'score': 9.21}, {'connected_gene': 'TNNI2', 'score': 2.8}, {'connected_gene': 'TNNT3', 'score': 2.28}, {'connected_gene': 'BRSK2', 'score': 1.6}, {'connected_gene': 'DUSP8', 'score': 1.59}, {'connected_gene': 'KRTAP5-3', 'score': 1.53}, {'connected_gene': 'LOC101927562', 'score': 0.44}, {'connected_gene': 'GC11P001533', 'score': 0.39}]
chr11 GH11I001588 1588752 1590020 0.86 [{'connected_gene': 'KRTAP5-AS1', 'score': 21.27}, {'connected_gene': 'MOB2', 'score': 8.14}, {'connected_gene': 'GC11M001589', 'score': 0.77}, {'connected_gene': 'KRTAP5-1', 'score': 0.77}]
chr11 GH11I001453 1453671 1453820 0.56 [{'connected_gene': 'KRTAP5-AS1', 'score': 12.68}, {'connected_gene': 'MOB2', 'score': 12.13}, {'connected_gene': 'AP2A2', 'score': 10.07}, {'connected_gene': 'GC11P001451', 'score': 0.77}, {'connected_gene': 'LOC105376514', 'score': 0.77}, {'connected_gene': 'BRSK2', 'score': 0.21}]
chr11 GH11I001539 1539611 1543025 0.59 [{'connected_gene': 'KRTAP5-AS1', 'score': 17.69}, {'connected_gene': 'MOB2', 'score': 9.24}, {'connected_gene': 'GC11P001533', 'score': 0.44}, {'connected_gene': 'LOC101927562', 'score': 0.37}]
chr11 GH11I001552 1552155 1553567 0.46 [{'connected_gene': 'KRTAP5-AS1', 'score': 14.81}, {'connected_gene': 'MOB2', 'score': 9.43}, {'connected_gene': 'LOC101927562', 'score': 0.77}, {'connected_gene': 'GC11P001533', 'score': 0.37}]
chr11 GH11I001561 1561338 1563627 0.46 [{'connected_gene': 'KRTAP5-AS1', 'score': 21.96}, {'connected_gene': 'KRTAP5-2', 'score': 13.0}, {'connected_gene': 'KRTAP5-5', 'score': 10.77}, {'connected_gene': 'MOB2', 'score': 9.36}, {'connected_gene': 'GC11M001556', 'score': 0.44}, {'connected_gene': 'GC11M001565', 'score': 0.44}, {'connected_gene': 'DUSP8', 'score': 0.39}]
chr11 GH11I001567 1567004 1575000 2.15 [{'connected_gene': 'KRTAP5-AS1', 'score': 572.17}, {'connected_gene': 'DUSP8', 'score': 550.77}, {'connected_gene': 'KRTAP5-2', 'score': 13.03}, {'connected_gene': 'KRTAP5-5', 'score': 10.79}, {'connected_gene': 'MOB2', 'score': 9.3}, {'connected_gene': 'GC11M001565', 'score': 0.77}]
chr11 GH11I001394 1394884 1400087 0.62 [{'connected_gene': 'TMEM80', 'score': 13.5}, {'connected_gene': 'MOB2', 'score': 11.53}, {'connected_gene': 'PHRF1', 'score': 10.49}, {'connected_gene': 'PIDD1', 'score': 10.22}, {'connected_gene': 'BRSK2', 'score': 8.24}, {'connected_gene': 'GC11P001391', 'score': 0.44}, {'connected_gene': 'GC11M001395', 'score': 0.37}]
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 GH11I001850 1849053 1849283 0.5 [{'connected_gene': 'CTSD', 'score': 2.02}, {'connected_gene': 'MOB2', 'score': 1.9}, {'connected_gene': 'LSP1', 'score': 0.77}, {'connected_gene': 'TNNI2', 'score': 0.39}, {'connected_gene': 'GC11P001831', '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 GH11I001505 1505591 1505700 0.43 [{'connected_gene': 'GC11P001506', 'score': 550.77}, {'connected_gene': 'MOB2', 'score': 0.77}]
chr11 GH11I001556 1556477 1560985 1.22 [{'connected_gene': 'GC11M001556', 'score': 550.77}, {'connected_gene': 'KRTAP5-AS1', 'score': 21.8}, {'connected_gene': 'MOB2', 'score': 19.89}, {'connected_gene': 'KRTAP5-1', 'score': 12.52}, {'connected_gene': 'KRTAP5-2', 'score': 11.75}, {'connected_gene': 'GC11M001565', 'score': 0.44}, {'connected_gene': 'DUSP8', 'score': 0.39}]
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 GH11I001554 1554902 1555760 0.2 [{'connected_gene': 'GC11M001556', 'score': 550.77}, {'connected_gene': 'LOC101927562', 'score': 550.77}, {'connected_gene': 'KRTAP5-AS1', 'score': 21.81}, {'connected_gene': 'KRTAP5-1', 'score': 12.52}, {'connected_gene': 'KRTAP5-2', 'score': 11.74}, {'connected_gene': 'MOB2', 'score': 10.73}, {'connected_gene': 'DUSP8', 'score': 0.37}, {'connected_gene': 'GC11P001533', 'score': 0.34}]

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