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
ENST00000342435 [[146232966, 146233888], [146234792, 146234954], [146239330, 146239492], [146239619, 146239840], [146243391, 146243434], [146246400, 146246618], [146251256, 146251337], [146254326, 146254352], [146262253, 146262651]] [[146233831, 146233888], [146234792, 146234954], [146239330, 146239492], [146239619, 146239840], [146243391, 146243434], [146246400, 146246618], [146251256, 146251337], [146254326, 146254339]]
ENST00000493432 [[146232967, 146233888], [146234792, 146234954], [146243391, 146243434], [146251256, 146251337], [146254326, 146254352], [146255782, 146255831], [146258920, 146258967], [146262253, 146262308]] [[146243402, 146243434], [146251256, 146251337], [146254326, 146254339]]
ENST00000448205 [[146232967, 146233888], [146234792, 146234954], [146243391, 146243434], [146251256, 146251337], [146254326, 146254352], [146255782, 146255831], [146258920, 146258967], [146262253, 146262308]] [[146233831, 146233888], [146234792, 146234828]]
ENST00000463777 [[146233588, 146233888], [146234792, 146234954], [146243391, 146243434], [146251256, 146251337], [146254326, 146254352], [146262253, 146262342]] [[146243402, 146243434], [146251256, 146251337], [146254326, 146254339]]
ENST00000487389 [[146233603, 146233888], [146234792, 146234954], [146239330, 146239492], [146239619, 146239840], [146243391, 146243434], [146246400, 146246618], [146251256, 146251337], [146262253, 146262524]] [[146233831, 146233888], [146234792, 146234954], [146239330, 146239492], [146239619, 146239840], [146243391, 146243434], [146246400, 146246618], [146251256, 146251329]]
ENST00000468985 [[146233738, 146233888], [146234792, 146234954], [146239330, 146239492], [146239619, 146239840], [146243391, 146243434], [146251256, 146251337], [146254326, 146254352], [146255782, 146255831], [146262253, 146262342]] [[146243402, 146243434], [146251256, 146251337], [146254326, 146254339]]
ENST00000448787 [[146233741, 146233888], [146234792, 146234954], [146239330, 146239492], [146239619, 146239840], [146243391, 146243434], [146251256, 146251337], [146254326, 146254352], [146262253, 146262407]] [[146233831, 146233888], [146234792, 146234954], [146239330, 146239492], [146239619, 146239840], [146243391, 146243434], [146251256, 146251325]]
ENST00000488253 [[146233845, 146233888], [146234792, 146234954], [146239330, 146239492], [146243391, 146243434], [146251256, 146251337], [146254326, 146254352], [146262253, 146262317]] [[146243402, 146243434], [146251256, 146251337], [146254326, 146254339]]
ENST00000489775 [[146233856, 146233888], [146234792, 146234954], [146239330, 146239840], [146243391, 146243434], [146251256, 146251337], [146254326, 146254352], [146255782, 146255831], [146262253, 146262334]] [[146243402, 146243434], [146251256, 146251337], [146254326, 146254339]]
ENST00000483300 [[146233874, 146233888], [146234792, 146234954], [146239330, 146239488], [146243391, 146243434], [146246400, 146246537]] [[146233874, 146233888], [146234792, 146234954], [146239330, 146239488], [146243391, 146243434], [146246400, 146246537]]
ENST00000484560 [[146234226, 146234483], [146234809, 146235181]] None
ENST00000478267 [[146234689, 146234954], [146239330, 146239492], [146239619, 146239840], [146243391, 146243434], [146251256, 146251337], [146254326, 146254352], [146262253, 146262325]] [[146243402, 146243434], [146251256, 146251337], [146254326, 146254339]]
ENST00000470496 [[146234798, 146234954], [146237952, 146237967], [146239330, 146239499]] None
ENST00000462666 [[146234875, 146234954], [146239330, 146239492], [146239619, 146239768], [146243391, 146243434], [146246400, 146246618], [146251256, 146251337], [146254326, 146254352], [146262253, 146262357]] [[146234875, 146234954], [146239330, 146239492], [146239619, 146239768], [146243391, 146243434], [146246400, 146246618], [146251256, 146251337], [146254326, 146254339]]
ENST00000486631 [[146234935, 146234954], [146239330, 146239492], [146239619, 146239840], [146243391, 146243434], [146251256, 146251337], [146262253, 146262428]] [[146234935, 146234954], [146239330, 146239492], [146239619, 146239840], [146243391, 146243434], [146251256, 146251325]]
ENST00000472349 [[146234944, 146234954], [146239330, 146239492], [146239619, 146239840], [146243391, 146243434], [146246400, 146246618], [146251256, 146251337], [146254326, 146254352], [146258920, 146258967], [146262253, 146262643]] [[146234944, 146234954], [146239330, 146239492], [146239619, 146239840], [146243391, 146243434], [146246400, 146246618], [146251256, 146251337], [146254326, 146254339]]
ENST00000494568 [[146239503, 146239840], [146243391, 146243434], [146246400, 146246618], [146251256, 146251337], [146254326, 146254352], [146262253, 146262365]] None
ENST00000490745 [[146243315, 146243434], [146251256, 146251337], [146254326, 146254606]] None
ENST00000469266 [[146245729, 146246618], [146251256, 146251337], [146254326, 146254352], [146262253, 146262514]] None
ENST00000477974 [[146258639, 146258967], [146262253, 146262340]] None
NM_021105 [[146232966, 146233888], [146234792, 146234954], [146239330, 146239492], [146239619, 146239840], [146243391, 146243434], [146246400, 146246618], [146251256, 146251337], [146254326, 146254352], [146262253, 146262628]] [[146233831, 146233888], [146234792, 146234954], [146239330, 146239492], [146239619, 146239840], [146243391, 146243434], [146246400, 146246618], [146251256, 146251337], [146254326, 146254339]]
Promoter
Chrom Start End Description
chr3 146262293 146262304 CAGE_peak_6_at_PLSCR1_5end
chr3 146262325 146262350 CAGE_peak_2_at_PLSCR1_5end
chr3 146262352 146262363 CAGE_peak_5_at_PLSCR1_5end
chr3 146262365 146262412 CAGE_peak_1_at_PLSCR1_5end
chr3 146262434 146262446 CAGE_peak_4_at_PLSCR1_5end
chr3 146262457 146262460 CAGE_peak_8_at_PLSCR1_5end
chr3 146262488 146262548 CAGE_peak_3_at_PLSCR1_5end
chr3 146262637 146262660 CAGE_peak_7_at_PLSCR1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I146313 146313055 146315297 1.05 [{'connected_gene': 'PLSCR4', 'score': 16.71}, {'connected_gene': 'PLSCR1', 'score': 11.02}, {'connected_gene': 'PLSCR2', 'score': 6.73}, {'connected_gene': 'LOC100419967', 'score': 0.29}]
chr3 GH03I146307 146307286 146310100 0.86 [{'connected_gene': 'PLSCR4', 'score': 16.12}, {'connected_gene': 'PLSCR1', 'score': 11.01}, {'connected_gene': 'LOC100419967', 'score': 0.28}]
chr3 GH03I146390 146390598 146391723 0.38 [{'connected_gene': 'PLSCR2', 'score': 23.5}, {'connected_gene': 'PLSCR4', 'score': 5.71}, {'connected_gene': 'PLSCR1', 'score': 5.26}, {'connected_gene': 'GC03P146374', 'score': 0.37}, {'connected_gene': 'ENSG00000241358', 'score': 0.31}]
chr3 GH03I146496 146496794 146496943 0.9 [{'connected_gene': 'PLSCR2', 'score': 550.77}, {'connected_gene': 'PLSCR1', 'score': 8.95}, {'connected_gene': 'ENSG00000279320', 'score': 0.44}]
chr3 GH03I146467 146467765 146470978 2.19 [{'connected_gene': 'PLSCR2', 'score': 568.29}, {'connected_gene': 'PLSCR1', 'score': 6.02}, {'connected_gene': 'ENSG00000241358', 'score': 0.23}]
chr3 GH03I146550 146550721 146551863 1.11 [{'connected_gene': 'PLSCR1', 'score': 17.9}, {'connected_gene': 'PLSCR4', 'score': 9.84}, {'connected_gene': 'PLSCR2', 'score': 9.62}, {'connected_gene': 'GC03P146572', 'score': 0.34}]
chr3 GH03I146541 146541281 146545581 2.56 [{'connected_gene': 'PLSCR1', 'score': 587.71}, {'connected_gene': 'PLSCR2', 'score': 9.75}, {'connected_gene': 'ENSG00000279320', 'score': 0.28}]
chr3 GH03I146498 146498069 146498600 0.51 [{'connected_gene': 'PLSCR1', 'score': 8.95}, {'connected_gene': 'PLSCR2', 'score': 0.77}, {'connected_gene': 'ENSG00000279320', 'score': 0.44}]
chr3 GH03I146510 146510023 146513153 0.76 [{'connected_gene': 'PLSCR1', 'score': 17.26}, {'connected_gene': 'RNU6-428P', 'score': 10.54}, {'connected_gene': 'ENSG00000279320', 'score': 0.44}]
chr3 GH03I146554 146554401 146554600 0.81 [{'connected_gene': 'PLSCR1', 'score': 0.44}, {'connected_gene': 'GC03P146572', 'score': 0.37}]
chr3 GH03I146522 146522564 146524332 0.58 [{'connected_gene': 'PLSCR1', 'score': 4.8}, {'connected_gene': 'ENSG00000279320', 'score': 0.37}]
chr3 GH03I146513 146513601 146514037 0.2 [{'connected_gene': 'PLSCR1', 'score': 16.27}, {'connected_gene': 'ENSG00000279320', 'score': 0.44}]
chr3 GH03I146517 146517537 146518766 0.89 [{'connected_gene': 'PLSCR1', 'score': 5.12}, {'connected_gene': 'ENSG00000279320', 'score': 0.39}]
chr3 GH03I146539 146539080 146540294 0.63 [{'connected_gene': 'PLSCR1', 'score': 11.88}, {'connected_gene': 'ENSG00000279320', 'score': 0.29}]
chr3 GH03I146536 146536600 146537200 0.58 [{'connected_gene': 'PLSCR1', 'score': 0.44}, {'connected_gene': 'ENSG00000279320', 'score': 0.29}]
chr3 GH03I146551 146550001 146550600 0.2 [{'connected_gene': 'PLSCR1', 'score': 0.44}, {'connected_gene': 'GC03P146572', 'score': 0.34}]
chr3 GH03I146580 146580523 146583113 1.07 [{'connected_gene': 'PLSCR5', 'score': 11.37}, {'connected_gene': 'PLSCR1', 'score': 11.17}, {'connected_gene': 'ENSG00000243415', 'score': 10.19}, {'connected_gene': 'PLOD2', 'score': 10.1}, {'connected_gene': 'LNCSRLR', 'score': 10.09}, {'connected_gene': 'GC03M146579', 'score': 0.77}, {'connected_gene': 'PLSCR5-AS1', 'score': 0.44}]
chr3 GH03I146502 146502653 146508483 1.32 [{'connected_gene': 'ENSG00000279320', 'score': 550.77}, {'connected_gene': 'PLSCR1', 'score': 20.63}, {'connected_gene': 'RNU6-428P', 'score': 10.52}, {'connected_gene': 'PLSCR2', 'score': 0.44}]

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