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
ENST00000464516 [[23630263, 23630599], [23632904, 23633125]] None
ENST00000478691 [[23631180, 23637559], [23637693, 23637815], [23640045, 23640195], [23644975, 23645190], [23648020, 23648156], [23650048, 23650225], [23660010, 23660124], [23664246, 23664354], [23664982, 23665101], [23670703, 23670829]] [[23636946, 23637559], [23637693, 23637815], [23640045, 23640195], [23644975, 23645190], [23648020, 23648156], [23650048, 23650225], [23660010, 23660124], [23664246, 23664327]]
ENST00000374616 [[23636275, 23637559], [23637693, 23637815], [23640045, 23640195], [23644975, 23645190], [23648020, 23648156], [23650048, 23650225], [23660010, 23660124], [23664246, 23664354], [23664982, 23665101], [23667344, 23667510], [23670703, 23670803]] [[23636946, 23637559], [23637693, 23637815], [23640045, 23640195], [23644975, 23645190], [23648020, 23648156], [23650048, 23650225], [23660010, 23660124], [23664246, 23664354], [23664982, 23665101], [23667344, 23667501]]
ENST00000476660 [[23636276, 23637559], [23637693, 23637815], [23638154, 23638386]] None
ENST00000374612 [[23636278, 23637559], [23637693, 23637815], [23640045, 23640195], [23644975, 23645181], [23648020, 23648156], [23650048, 23650225], [23660010, 23660124], [23664246, 23664354], [23664982, 23665101], [23667344, 23667513], [23670703, 23670815]] [[23636946, 23637559], [23637693, 23637815], [23640045, 23640195], [23644975, 23645181], [23648020, 23648156], [23650048, 23650225], [23660010, 23660124], [23664246, 23664354], [23664982, 23665101], [23667344, 23667501]]
ENST00000302271 [[23636280, 23637559], [23637693, 23637815], [23640045, 23640195], [23644975, 23645181], [23648020, 23648156], [23650048, 23650225], [23660010, 23660124], [23664246, 23664354], [23664982, 23665101], [23667344, 23667510], [23670703, 23670755]] [[23636946, 23637559], [23637693, 23637815], [23640045, 23640195], [23644975, 23645181], [23648020, 23648156], [23650048, 23650225], [23660010, 23660124], [23664246, 23664354], [23664982, 23665101], [23667344, 23667501]]
ENST00000427764 [[23636707, 23637559], [23637693, 23637815], [23640045, 23640195], [23644975, 23645181], [23648020, 23648156], [23650048, 23650225], [23664246, 23664354], [23664982, 23665101], [23667344, 23667510], [23670703, 23670774]] [[23636946, 23637559], [23637693, 23637815], [23640045, 23640195], [23644975, 23645181], [23648020, 23648156], [23650048, 23650225], [23664246, 23664354], [23664982, 23665101], [23667344, 23667501]]
ENST00000606561 [[23636825, 23637559], [23637693, 23637815], [23640045, 23640195], [23644975, 23645181], [23648020, 23648156], [23650048, 23650225], [23664246, 23664354], [23664982, 23665101], [23670703, 23670788]] [[23636946, 23637559], [23637693, 23637815], [23640045, 23640195], [23644975, 23645181], [23648020, 23648156], [23650048, 23650225], [23664246, 23664327]]
ENST00000426846 [[23636885, 23637559], [23637693, 23637815], [23640045, 23640195], [23644975, 23645181], [23648020, 23648156], [23660010, 23660124], [23664246, 23664354], [23664982, 23665101], [23670703, 23670773]] [[23636946, 23637559], [23637693, 23637815], [23640045, 23640195], [23644975, 23645181], [23648020, 23648156], [23660010, 23660124], [23664246, 23664327]]
ENST00000463552 [[23640045, 23640195], [23644975, 23645181], [23648020, 23648156], [23650048, 23650225], [23664246, 23664354], [23664982, 23665042]] None
ENST00000470941 [[23640091, 23640195], [23644975, 23645181], [23648020, 23648156], [23660010, 23660124]] None
ENST00000476451 [[23644975, 23645181], [23648020, 23648156], [23650048, 23650225], [23660010, 23660124], [23664246, 23664354], [23664555, 23664628]] None
ENST00000490652 [[23664762, 23665101], [23667344, 23667510], [23670703, 23670810]] None
NM_001102398 [[23631180, 23637559], [23637693, 23637815], [23640045, 23640195], [23644975, 23645190], [23648020, 23648156], [23650048, 23650225], [23660010, 23660124], [23664246, 23664354], [23664982, 23665101], [23667344, 23667510], [23670703, 23670857]] [[23636946, 23637559], [23637693, 23637815], [23640045, 23640195], [23644975, 23645190], [23648020, 23648156], [23650048, 23650225], [23660010, 23660124], [23664246, 23664354], [23664982, 23665101], [23667344, 23667501]]
NM_005826 [[23631180, 23637559], [23637693, 23637815], [23640045, 23640195], [23644975, 23645181], [23648020, 23648156], [23650048, 23650225], [23660010, 23660124], [23664246, 23664354], [23664982, 23665101], [23667344, 23667510], [23670703, 23670857]] [[23636946, 23637559], [23637693, 23637815], [23640045, 23640195], [23644975, 23645181], [23648020, 23648156], [23650048, 23650225], [23660010, 23660124], [23664246, 23664354], [23664982, 23665101], [23667344, 23667501]]
NM_001297620 [[23631180, 23637559], [23637693, 23637815], [23640045, 23640195], [23644975, 23645181], [23648020, 23648156], [23650048, 23650225], [23664246, 23664354], [23664982, 23665101], [23667344, 23667510], [23670703, 23670857]] [[23636946, 23637559], [23637693, 23637815], [23640045, 23640195], [23644975, 23645181], [23648020, 23648156], [23650048, 23650225], [23664246, 23664354], [23664982, 23665101], [23667344, 23667501]]
NM_001102399 [[23631180, 23637559], [23637693, 23637815], [23640045, 23640195], [23644975, 23645190], [23648020, 23648156], [23650048, 23650225], [23660010, 23660124], [23664246, 23664354], [23664982, 23665101], [23670703, 23670857]] [[23636946, 23637559], [23637693, 23637815], [23640045, 23640195], [23644975, 23645190], [23648020, 23648156], [23650048, 23650225], [23660010, 23660124], [23664246, 23664327]]
NM_001102397 [[23631180, 23637559], [23637693, 23637815], [23640045, 23640195], [23644975, 23645181], [23648020, 23648156], [23650048, 23650225], [23660010, 23660124], [23664246, 23664354], [23664982, 23665101], [23670703, 23670857]] [[23636946, 23637559], [23637693, 23637815], [23640045, 23640195], [23644975, 23645181], [23648020, 23648156], [23650048, 23650225], [23660010, 23660124], [23664246, 23664327]]
NM_001297621 [[23631180, 23637559], [23637693, 23637815], [23640045, 23640195], [23644975, 23645181], [23648020, 23648156], [23660010, 23660124], [23664246, 23664354], [23664982, 23665101], [23670703, 23670857]] [[23636946, 23637559], [23637693, 23637815], [23640045, 23640195], [23644975, 23645181], [23648020, 23648156], [23660010, 23660124], [23664246, 23664327]]
NM_001297622 [[23631180, 23637559], [23637693, 23637815], [23640045, 23640195], [23644975, 23645181], [23648020, 23648156], [23650048, 23650225], [23664246, 23664354], [23664982, 23665101], [23670703, 23670857]] [[23636946, 23637559], [23637693, 23637815], [23640045, 23640195], [23644975, 23645181], [23648020, 23648156], [23650048, 23650225], [23664246, 23664327]]
Promoter
Chrom Start End Description
chr1 23670737 23670751 CAGE_peak_2_at_HNRNPR_5end
chr1 23670752 23670799 CAGE_peak_1_at_HNRNPR_5end
chr1 23670813 23670816 CAGE_peak_5_at_HNRNPR_5end
chr1 23670817 23670828 CAGE_peak_4_at_HNRNPR_5end
chr1 23670844 23670853 CAGE_peak_3_at_HNRNPR_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I023512 23512826 23513138 0.33 [{'connected_gene': 'ZNF436', 'score': 19.63}, {'connected_gene': 'ID3', 'score': 11.02}, {'connected_gene': 'ENSG00000201405', 'score': 10.58}, {'connected_gene': 'ZNF436-AS1', 'score': 10.58}, {'connected_gene': 'HNRNPR', 'score': 2.22}, {'connected_gene': 'PIR36355', 'score': 0.77}, {'connected_gene': 'LOC101928163', 'score': 0.44}, {'connected_gene': 'E2F2', 'score': 0.37}]
chr1 GH01I023366 23366188 23372752 2.32 [{'connected_gene': 'ZNF436', 'score': 588.19}, {'connected_gene': 'ZNF436-AS1', 'score': 560.02}, {'connected_gene': 'ENSG00000201405', 'score': 550.77}, {'connected_gene': 'GC01P023371', 'score': 550.77}, {'connected_gene': 'KDM1A', 'score': 30.79}, {'connected_gene': 'SRSF10', 'score': 29.99}, {'connected_gene': 'LINC01355', 'score': 24.88}, {'connected_gene': 'ELOA', 'score': 20.86}, {'connected_gene': 'ZBTB40', 'score': 15.75}, {'connected_gene': 'RPL11', 'score': 13.66}, {'connected_gene': 'PNRC2', 'score': 11.7}, {'connected_gene': 'HNRNPR', 'score': 10.78}, {'connected_gene': 'TCEA3', 'score': 9.07}, {'connected_gene': 'GC01P023366', 'score': 0.77}, {'connected_gene': 'GC01P023364', 'score': 0.44}]
chr1 GH01I024266 24266175 24267802 0.97 [{'connected_gene': 'ZNF436', 'score': 13.31}, {'connected_gene': 'LOC105376871', 'score': 11.36}, {'connected_gene': 'GRHL3', 'score': 11.36}, {'connected_gene': 'SRRM1', 'score': 10.69}, {'connected_gene': 'HNRNPR', 'score': 9.9}, {'connected_gene': 'PIR35234', 'score': 0.39}, {'connected_gene': 'GC01M024359', 'score': 0.39}, {'connected_gene': 'GC01P024305', 'score': 0.28}]
chr1 GH01I023166 23166076 23170599 2.25 [{'connected_gene': 'LUZP1', 'score': 563.06}, {'connected_gene': 'GC01P023167', 'score': 550.77}, {'connected_gene': 'SRSF10', 'score': 35.02}, {'connected_gene': 'ZBTB40', 'score': 24.74}, {'connected_gene': 'PNRC2', 'score': 24.28}, {'connected_gene': 'RPL11', 'score': 23.57}, {'connected_gene': 'LINC01355', 'score': 22.89}, {'connected_gene': 'HNRNPR', 'score': 22.4}, {'connected_gene': 'ELOA', 'score': 19.59}, {'connected_gene': 'LACTBL1', 'score': 9.72}]
chr1 GH01I023098 23098450 23105227 1.7 [{'connected_gene': 'LUZP1', 'score': 24.48}, {'connected_gene': 'LINC01355', 'score': 19.56}, {'connected_gene': 'SRSF10', 'score': 15.68}, {'connected_gene': 'HNRNPR', 'score': 12.03}, {'connected_gene': 'RNU6-135P', 'score': 11.89}, {'connected_gene': 'RNU6-514P', 'score': 11.89}, {'connected_gene': 'LACTBL1', 'score': 11.03}, {'connected_gene': 'GC01M023095', 'score': 0.77}, {'connected_gene': 'ENSG00000229010', 'score': 0.28}]
chr1 GH01I023691 23691050 23694195 2.07 [{'connected_gene': 'RPL11', 'score': 585.8}, {'connected_gene': 'SRSF10', 'score': 87.56}, {'connected_gene': 'SRRM1', 'score': 64.54}, {'connected_gene': 'LINC01355', 'score': 61.68}, {'connected_gene': 'PNRC2', 'score': 41.58}, {'connected_gene': 'HNRNPR', 'score': 37.5}, {'connected_gene': 'KDM1A', 'score': 30.3}, {'connected_gene': 'ELOA', 'score': 30.01}, {'connected_gene': 'ASAP3', 'score': 11.49}, {'connected_gene': 'GC01M023708', 'score': 0.39}]
chr1 GH01I023417 23417248 23418011 0.99 [{'connected_gene': 'ASAP3', 'score': 17.97}, {'connected_gene': 'ZNF436-AS1', 'score': 12.66}, {'connected_gene': 'HNRNPR', 'score': 9.97}, {'connected_gene': 'TCEA3', 'score': 0.44}, {'connected_gene': 'ENSG00000232482', 'score': 0.44}]
chr1 GH01I023472 23471730 23471862 0.63 [{'connected_gene': 'ASAP3', 'score': 17.8}, {'connected_gene': 'ZNF436-AS1', 'score': 12.56}, {'connected_gene': 'HNRNPR', 'score': 9.9}, {'connected_gene': 'GC01P023474', 'score': 0.77}, {'connected_gene': 'GC01P023453', 'score': 0.37}]
chr1 GH01I023867 23867343 23869456 2.25 [{'connected_gene': 'FUCA1', 'score': 565.78}, {'connected_gene': 'SRRM1', 'score': 24.81}, {'connected_gene': 'SRSF10', 'score': 19.25}, {'connected_gene': 'RPL11', 'score': 13.7}, {'connected_gene': 'LINC01355', 'score': 13.09}, {'connected_gene': 'ZNF436-AS1', 'score': 12.45}, {'connected_gene': 'PNRC2', 'score': 11.83}, {'connected_gene': 'ELOA', 'score': 11.43}, {'connected_gene': 'HNRNPR', 'score': 9.81}, {'connected_gene': 'GC01M023881', 'score': 0.39}]
chr1 GH01I022824 22824739 22833128 1.26 [{'connected_gene': 'KDM1A', 'score': 25.54}, {'connected_gene': 'LINC01355', 'score': 25.48}, {'connected_gene': 'EPHB2', 'score': 22.62}, {'connected_gene': 'ELOA', 'score': 11.25}, {'connected_gene': 'ZNF436-AS1', 'score': 10.88}, {'connected_gene': 'HNRNPR', 'score': 10.66}, {'connected_gene': 'ENSG00000225952', 'score': 0.44}, {'connected_gene': 'GC01M022785', 'score': 0.28}]
chr1 GH01I023625 23625233 23626069 0.87 [{'connected_gene': 'ZNF436-AS1', 'score': 52.06}, {'connected_gene': 'HNRNPR', 'score': 41.56}, {'connected_gene': 'SRSF10', 'score': 34.94}, {'connected_gene': 'LINC01355', 'score': 33.99}, {'connected_gene': 'KDM1A', 'score': 31.86}, {'connected_gene': 'RPL11', 'score': 20.51}, {'connected_gene': 'PNRC2', 'score': 11.8}, {'connected_gene': 'MDS2', 'score': 11.56}, {'connected_gene': 'ID3', 'score': 11.44}, {'connected_gene': 'E2F2', 'score': 11.39}, {'connected_gene': 'FUCA1', 'score': 11.25}, {'connected_gene': 'ASAP3', 'score': 10.43}, {'connected_gene': 'ELOA', 'score': 9.96}, {'connected_gene': 'GC01P023610', 'score': 0.37}, {'connected_gene': 'LOC729856', 'score': 0.26}]
chr1 GH01I023975 23975616 23982057 2.92 [{'connected_gene': 'SRSF10', 'score': 615.2}, {'connected_gene': 'ELOA', 'score': 42.13}, {'connected_gene': 'SRRM1', 'score': 40.08}, {'connected_gene': 'LINC01355', 'score': 24.39}, {'connected_gene': 'KDM1A', 'score': 22.27}, {'connected_gene': 'RPL11', 'score': 13.67}, {'connected_gene': 'ZNF436-AS1', 'score': 12.44}, {'connected_gene': 'PNRC2', 'score': 12.04}, {'connected_gene': 'CNR2', 'score': 11.86}, {'connected_gene': 'RUNX3', 'score': 9.85}, {'connected_gene': 'HNRNPR', 'score': 9.8}]
chr1 GH01I023626 23626382 23628085 1.22 [{'connected_gene': 'SRSF10', 'score': 48.12}, {'connected_gene': 'RPL11', 'score': 37.61}, {'connected_gene': 'PNRC2', 'score': 33.32}, {'connected_gene': 'ELOA', 'score': 29.87}, {'connected_gene': 'LINC01355', 'score': 22.07}, {'connected_gene': 'FUCA1', 'score': 14.52}, {'connected_gene': 'HNRNPR', 'score': 13.43}, {'connected_gene': 'ID3', 'score': 12.15}, {'connected_gene': 'MDS2', 'score': 11.89}, {'connected_gene': 'E2F2', 'score': 11.42}, {'connected_gene': 'ASAP3', 'score': 11.2}, {'connected_gene': 'KDM1A', 'score': 9.89}, {'connected_gene': 'GC01P023610', 'score': 0.37}, {'connected_gene': 'LOC729856', 'score': 0.26}]
chr1 GH01I024283 24283047 24287442 1.07 [{'connected_gene': 'SRSF10', 'score': 17.56}, {'connected_gene': 'SRRM1', 'score': 17.07}, {'connected_gene': 'GRHL3', 'score': 11.74}, {'connected_gene': 'LOC105376871', 'score': 11.72}, {'connected_gene': 'PNRC2', 'score': 11.54}, {'connected_gene': 'ELOA', 'score': 11.14}, {'connected_gene': 'LINC01355', 'score': 10.79}, {'connected_gene': 'HNRNPR', 'score': 10.71}, {'connected_gene': 'RPL11', 'score': 10.39}, {'connected_gene': 'SYF2', 'score': 10.03}, {'connected_gene': 'GC01P024305', 'score': 0.34}, {'connected_gene': 'GC01M024359', 'score': 0.29}, {'connected_gene': 'PIR35234', 'score': 0.29}]
chr1 GH01I024014 24014726 24024011 1.71 [{'connected_gene': 'SRSF10', 'score': 27.6}, {'connected_gene': 'LINC01355', 'score': 19.49}, {'connected_gene': 'SRRM1', 'score': 12.27}, {'connected_gene': 'HNRNPR', 'score': 11.99}, {'connected_gene': 'PNRC2', 'score': 11.83}, {'connected_gene': 'CNR2', 'score': 11.76}, {'connected_gene': 'ENSG00000230703', 'score': 11.49}, {'connected_gene': 'MYOM3', 'score': 11.41}, {'connected_gene': 'LOC105376863', 'score': 0.44}, {'connected_gene': 'ENSG00000225315', 'score': 0.34}]
chr1 GH01I024289 24289707 24290957 1.05 [{'connected_gene': 'SRRM1', 'score': 15.41}, {'connected_gene': 'SRSF10', 'score': 14.89}, {'connected_gene': 'HNRNPR', 'score': 12.73}, {'connected_gene': 'GRHL3', 'score': 11.36}, {'connected_gene': 'LOC105376871', 'score': 11.34}, {'connected_gene': 'GC01P024305', 'score': 0.37}, {'connected_gene': 'GC01M024359', 'score': 0.28}, {'connected_gene': 'PIR35234', 'score': 0.28}]
chr1 GH01I023339 23339853 23346153 2.09 [{'connected_gene': 'HNRNPR', 'score': 550.77}, {'connected_gene': 'ZNF436-AS1', 'score': 37.12}, {'connected_gene': 'ZNF436', 'score': 24.53}, {'connected_gene': 'ZBTB40', 'score': 16.09}, {'connected_gene': 'KDM1A', 'score': 16.06}, {'connected_gene': 'ENSG00000201405', 'score': 11.5}, {'connected_gene': 'SRSF10', 'score': 11.23}, {'connected_gene': 'ELOA', 'score': 10.31}, {'connected_gene': 'ZBTB40-IT1', 'score': 9.69}, {'connected_gene': 'TCEA3', 'score': 8.24}, {'connected_gene': 'ENSG00000284726', 'score': 0.25}]
chr1 GH01I023328 23328768 23328917 0.49 [{'connected_gene': 'HNRNPR', 'score': 0.37}, {'connected_gene': 'ENSG00000284726', 'score': 0.29}]
chr1 GH01I023539 23539419 23540559 1.45 [{'connected_gene': 'LINC01355', 'score': 29.33}, {'connected_gene': 'SRSF10', 'score': 27.51}, {'connected_gene': 'HNRNPR', 'score': 23.45}, {'connected_gene': 'ZNF436-AS1', 'score': 16.04}, {'connected_gene': 'KDM1A', 'score': 14.07}, {'connected_gene': 'ELOA', 'score': 11.88}, {'connected_gene': 'E2F2', 'score': 0.44}, {'connected_gene': 'LOC105376859', 'score': 0.37}]
chr1 GH01I023471 23471933 23476783 0.99 [{'connected_gene': 'GC01P023474', 'score': 550.77}, {'connected_gene': 'GC01P023475', 'score': 550.77}, {'connected_gene': 'ASAP3', 'score': 33.52}, {'connected_gene': 'ZNF436-AS1', 'score': 12.55}, {'connected_gene': 'HNRNPR', 'score': 9.9}, {'connected_gene': 'ZNF436', 'score': 9.86}, {'connected_gene': 'TCEA3', 'score': 5.62}, {'connected_gene': 'GC01M023474', 'score': 0.77}]
chr1 GH01I023401 23401601 23404677 1.42 [{'connected_gene': 'GC01M023399', 'score': 550.77}, {'connected_gene': 'GC01M023400', 'score': 550.77}, {'connected_gene': 'ZNF436-AS1', 'score': 20.3}, {'connected_gene': 'ZNF436', 'score': 10.37}, {'connected_gene': 'HNRNPR', 'score': 10.0}, {'connected_gene': 'ENSG00000232482', 'score': 0.44}, {'connected_gene': 'TCEA3', 'score': 0.34}]
chr1 GH01I024045 24045606 24047751 1.08 [{'connected_gene': 'GC01P024045', 'score': 550.77}, {'connected_gene': 'SRSF10', 'score': 17.7}, {'connected_gene': 'SRRM1', 'score': 17.05}, {'connected_gene': 'PNRC2', 'score': 11.66}, {'connected_gene': 'ELOA', 'score': 11.17}, {'connected_gene': 'LINC01355', 'score': 10.79}, {'connected_gene': 'HNRNPR', 'score': 10.72}, {'connected_gene': 'RPL11', 'score': 10.41}, {'connected_gene': 'IL22RA1', 'score': 5.74}, {'connected_gene': 'ENSG00000225315', 'score': 0.44}, {'connected_gene': 'ENSG00000230703', 'score': 0.34}]
chr1 GH01I023589 23589002 23603629 1.7 [{'connected_gene': 'PIR62098', 'score': 550.77}, {'connected_gene': 'SRSF10', 'score': 26.64}, {'connected_gene': 'LINC01355', 'score': 21.08}, {'connected_gene': 'E2F2', 'score': 12.7}, {'connected_gene': 'ELOA', 'score': 12.52}, {'connected_gene': 'HNRNPR', 'score': 12.51}, {'connected_gene': 'PNRC2', 'score': 12.16}, {'connected_gene': 'ID3', 'score': 12.15}, {'connected_gene': 'ZNF436', 'score': 11.6}, {'connected_gene': 'RPL11', 'score': 11.32}, {'connected_gene': 'ASAP3', 'score': 10.29}, {'connected_gene': 'ZNF436-AS1', 'score': 10.21}, {'connected_gene': 'ENSG00000201405', 'score': 10.21}, {'connected_gene': 'KDM1A', 'score': 10.09}, {'connected_gene': 'STPG1', 'score': 4.78}, {'connected_gene': 'CNR2', 'score': 1.79}, {'connected_gene': 'MDS2', 'score': 0.39}]