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
ENST00000264249 [[101008326, 101010244], [101011970, 101012076], [101014369, 101014604], [101019025, 101019117], [101023037, 101023169], [101031502, 101031573], [101033835, 101034118]] [[101009706, 101010244], [101011970, 101012076], [101014369, 101014604], [101019025, 101019117], [101023037, 101023137]]
ENST00000542617 [[101009603, 101010244], [101011970, 101012076], [101014369, 101014604], [101019025, 101019117], [101023037, 101023169], [101031502, 101031573], [101033450, 101033649]] [[101009706, 101010244], [101011970, 101012076], [101014369, 101014604], [101019025, 101019117], [101023037, 101023169], [101031502, 101031573], [101033450, 101033491]]
ENST00000409701 [[101009706, 101010244], [101011970, 101012076], [101014369, 101014604], [101019025, 101019117], [101023037, 101023169], [101031502, 101031573], [101033309, 101033473]] [[101009706, 101010244], [101011970, 101012076], [101014369, 101014604], [101019025, 101019117], [101023037, 101023137]]
ENST00000484382 [[101014369, 101014604], [101023037, 101023169], [101031502, 101031573], [101033835, 101033916]] None
ENST00000409046 [[101014372, 101014604], [101019025, 101019117], [101023037, 101023169], [101031502, 101031573], [101033719, 101033796]] [[101014372, 101014604], [101019025, 101019117], [101023037, 101023137]]
ENST00000420858 [[101014397, 101014604], [101019025, 101019117], [101023037, 101023169], [101031502, 101031573], [101032235, 101032307]] [[101014397, 101014604], [101019025, 101019117], [101023037, 101023137]]
ENST00000448989 [[101014513, 101014604], [101019025, 101019117], [101023037, 101023169], [101031502, 101031573], [101033450, 101033649]] [[101014513, 101014604], [101019025, 101019117], [101023037, 101023169], [101031502, 101031573], [101033450, 101033491]]
ENST00000421474 [[101014541, 101014604], [101019025, 101019117], [101023037, 101023169], [101025004, 101025122], [101031502, 101031573], [101033719, 101033802]] [[101014541, 101014604], [101019025, 101019117], [101023037, 101023137]]
ENST00000418201 [[101019025, 101019117], [101023037, 101023169], [101031502, 101031573], [101032684, 101032987], [101033719, 101033813]] [[101019025, 101019117], [101023037, 101023137]]
ENST00000435960 [[101023037, 101023169], [101031502, 101031573], [101033184, 101033532], [101033719, 101033841]] [[101023037, 101023137]]
ENST00000485085 [[101024134, 101024168], [101024254, 101024354], [101025004, 101025122], [101031502, 101031573], [101033835, 101034076]] None
ENST00000487860 [[101024635, 101025122], [101031502, 101031573], [101033835, 101033873]] None
ENST00000466583 [[101031514, 101031573], [101032684, 101032987], [101033592, 101033717]] None
NM_004854 [[101008321, 101010244], [101011970, 101012076], [101014369, 101014604], [101019025, 101019117], [101023037, 101023169], [101031502, 101031573], [101033835, 101034130]] [[101009706, 101010244], [101011970, 101012076], [101014369, 101014604], [101019025, 101019117], [101023037, 101023137]]
Promoter
Chrom Start End Description
chr2 101034003 101034046 CAGE_peak_2_at_CHST10_5end
chr2 101034070 101034147 CAGE_peak_1_at_CHST10_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I100416 100416600 100418248 1.94 [{'connected_gene': 'CHST10', 'score': 560.79}, {'connected_gene': 'REV1', 'score': 9.87}, {'connected_gene': 'ENSG00000270699', 'score': 0.26}]
chr2 GH02I100260 100260799 100260948 0.65 [{'connected_gene': 'CHST10', 'score': 8.0}, {'connected_gene': 'LINC01104', 'score': 0.23}, {'connected_gene': 'LONRF2', 'score': 0.21}]
chr2 GH02I100418 100418659 100418808 0.31 [{'connected_gene': 'CHST10', 'score': 550.77}, {'connected_gene': 'LOC129522', 'score': 0.44}]
chr2 GH02I100588 100588001 100588600 1.38 [{'connected_gene': 'PDCL3', 'score': 13.19}, {'connected_gene': 'CHST10', 'score': 10.3}, {'connected_gene': 'RPL31', 'score': 1.44}, {'connected_gene': 'HMGN2P22', 'score': 0.77}]
chr2 GH02I101301 101301697 101302407 0.49 [{'connected_gene': 'SNORD89', 'score': 39.6}, {'connected_gene': 'CHST10', 'score': 10.01}, {'connected_gene': 'RNF149', 'score': 0.44}, {'connected_gene': 'GC02M101274', 'score': 0.31}]
chr2 GH02I100393 100393875 100396016 0.99 [{'connected_gene': 'AFF3', 'score': 27.99}, {'connected_gene': 'CHST10', 'score': 11.81}, {'connected_gene': 'LONRF2', 'score': 9.41}, {'connected_gene': 'ENSG00000270699', 'score': 0.37}]
chr2 GH02I100351 100351219 100351368 0.38 [{'connected_gene': 'LONRF2', 'score': 11.95}, {'connected_gene': 'CHST10', 'score': 4.88}, {'connected_gene': 'CYCSP7', 'score': 0.37}]
chr2 GH02I100273 100273974 100275847 0.38 [{'connected_gene': 'LONRF2', 'score': 11.48}, {'connected_gene': 'CHST10', 'score': 8.77}, {'connected_gene': 'LINC01104', 'score': 0.2}]
chr2 GH02I100320 100320278 100322983 2.17 [{'connected_gene': 'LONRF2', 'score': 565.29}, {'connected_gene': 'CHST10', 'score': 6.09}, {'connected_gene': 'LINC01104', 'score': 0.14}]
chr2 GH02I100411 100411430 100413808 0.43 [{'connected_gene': 'LONRF2', 'score': 18.83}, {'connected_gene': 'CHST10', 'score': 4.49}, {'connected_gene': 'ENSG00000270699', 'score': 0.28}]
chr2 GH02I100287 100287540 100294688 1.72 [{'connected_gene': 'LONRF2', 'score': 21.77}, {'connected_gene': 'REV1', 'score': 20.21}, {'connected_gene': 'ENSG00000273306', 'score': 10.53}, {'connected_gene': 'CHST10', 'score': 4.61}, {'connected_gene': 'LINC01104', 'score': 0.18}]
chr2 GH02I100381 100381279 100381448 0.74 [{'connected_gene': 'ENSG00000270699', 'score': 0.77}, {'connected_gene': 'CHST10', 'score': 0.28}]

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