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
ENST00000350842 [[28616902, 28617254], [28617376, 28617557], [28618081, 28618176], [28618271, 28618398], [28631383, 28631454], [28634451, 28634907]] [[28617141, 28617254], [28617376, 28617557], [28618081, 28618176], [28618271, 28618398], [28631383, 28631454], [28634451, 28634518]]
ENST00000564818 [[28616907, 28617254], [28617376, 28617557], [28618081, 28618176], [28618271, 28618398], [28619611, 28619709], [28619798, 28619924], [28620028, 28620180], [28620683, 28620756], [28621251, 28621512], [28631383, 28631454], [28634451, 28634573]] [[28621479, 28621512], [28631383, 28631454], [28634451, 28634518]]
ENST00000567998 [[28616911, 28617254], [28617376, 28617557], [28618081, 28618176], [28618271, 28625600]] None
ENST00000562058 [[28616912, 28617254], [28617376, 28617557], [28618081, 28618176], [28618271, 28618398], [28619611, 28619709], [28619798, 28619924], [28620028, 28620180], [28621251, 28621512], [28631383, 28631454], [28634451, 28634874]] [[28621479, 28621512], [28631383, 28631454], [28634451, 28634518]]
ENST00000395607 [[28616917, 28617254], [28617376, 28617557], [28618081, 28618176], [28618271, 28618398], [28619611, 28619709], [28619798, 28619924], [28620028, 28620180], [28620379, 28620649]] [[28617141, 28617254], [28617376, 28617557], [28618081, 28618176], [28618271, 28618398], [28619611, 28619709], [28619798, 28619924], [28620028, 28620176]]
ENST00000395609 [[28616917, 28617254], [28617376, 28617557], [28618081, 28618176], [28618271, 28618398], [28619611, 28619709], [28619798, 28619924], [28620028, 28620180], [28621251, 28621512], [28631383, 28631454], [28634451, 28634874]] [[28617141, 28617254], [28617376, 28617557], [28618081, 28618176], [28618271, 28618398], [28619611, 28619709], [28619798, 28619924], [28620028, 28620176]]
ENST00000569554 [[28616939, 28617254], [28617376, 28617557], [28618081, 28618176], [28618271, 28618398], [28619611, 28619709], [28619798, 28619924], [28620028, 28620241]] [[28617141, 28617254], [28617376, 28617557], [28618081, 28618176], [28618271, 28618398], [28619611, 28619709], [28619798, 28619924], [28620028, 28620176]]
ENST00000314752 [[28616948, 28617254], [28617376, 28617557], [28618081, 28618176], [28618271, 28618398], [28619611, 28619709], [28619798, 28619924], [28620028, 28620180], [28621251, 28621328]] [[28617141, 28617254], [28617376, 28617557], [28618081, 28618176], [28618271, 28618398], [28619611, 28619709], [28619798, 28619924], [28620028, 28620176]]
ENST00000563493 [[28616948, 28617254], [28617376, 28617557], [28618081, 28618176], [28618271, 28618398], [28619611, 28619709], [28619798, 28619924], [28620028, 28620180], [28631383, 28631454], [28634451, 28634946]] [[28620060, 28620180], [28631383, 28631454], [28634451, 28634518]]
ENST00000566189 [[28617185, 28617254], [28617376, 28617557], [28618081, 28618176], [28618271, 28618398], [28619611, 28619709], [28619798, 28619924], [28620028, 28620211], [28621251, 28621311]] [[28617185, 28617254], [28617376, 28617557], [28618081, 28618176], [28618271, 28618398], [28619611, 28619709], [28619798, 28619924], [28620028, 28620176]]
ENST00000567512 [[28617516, 28617557], [28618081, 28618176], [28618271, 28618398], [28619611, 28619709], [28620028, 28620180], [28621251, 28621353]] [[28617516, 28617557], [28618081, 28618176], [28618271, 28618398], [28619611, 28619709], [28620028, 28620176]]
NM_177534 [[28616907, 28617254], [28617376, 28617557], [28618081, 28618176], [28618271, 28618398], [28619611, 28619709], [28619798, 28619924], [28620028, 28620649]] [[28617141, 28617254], [28617376, 28617557], [28618081, 28618176], [28618271, 28618398], [28619611, 28619709], [28619798, 28619924], [28620028, 28620176]]
NM_177530 [[28616907, 28617254], [28617376, 28617557], [28618081, 28618176], [28618271, 28618398], [28619611, 28619709], [28619798, 28619924], [28620028, 28620180], [28620379, 28620649]] [[28617141, 28617254], [28617376, 28617557], [28618081, 28618176], [28618271, 28618398], [28619611, 28619709], [28619798, 28619924], [28620028, 28620176]]
NM_177529 [[28616907, 28617254], [28617376, 28617557], [28618081, 28618176], [28618271, 28618398], [28619611, 28619709], [28619798, 28619924], [28620028, 28620211], [28621251, 28621365]] [[28617141, 28617254], [28617376, 28617557], [28618081, 28618176], [28618271, 28618398], [28619611, 28619709], [28619798, 28619924], [28620028, 28620176]]
NM_001055 [[28616907, 28617254], [28617376, 28617557], [28618081, 28618176], [28618271, 28618398], [28619611, 28619709], [28619798, 28619924], [28620028, 28620180], [28621251, 28621365]] [[28617141, 28617254], [28617376, 28617557], [28618081, 28618176], [28618271, 28618398], [28619611, 28619709], [28619798, 28619924], [28620028, 28620176]]
NM_177536 [[28616907, 28617254], [28617376, 28617557], [28618081, 28618176], [28618271, 28618398], [28631383, 28631454], [28634451, 28634907]] [[28617141, 28617254], [28617376, 28617557], [28618081, 28618176], [28618271, 28618398], [28631383, 28631454], [28634451, 28634518]]
Promoter
Chrom Start End Description
chr16 28621298 28621310 CAGE_peak_9_at_SULT1A1_5end
chr16 28621312 28621350 CAGE_peak_1_at_SULT1A1_5end
chr16 28621355 28621379 CAGE_peak_2_at_SULT1A1_5end
chr16 28621385 28621390 CAGE_peak_7_at_SULT1A1_5end
chr16 28634522 28634552 CAGE_peak_6_at_SULT1A1_5end
chr16 28634646 28634713 CAGE_peak_3_at_SULT1A1_5end
chr16 28634717 28634727 CAGE_peak_10_at_SULT1A1_5end
chr16 28634881 28634907 CAGE_peak_4_at_SULT1A1_5end
chr16 28634909 28634925 CAGE_peak_8_at_SULT1A1_5end
chr16 28634930 28634953 CAGE_peak_5_at_SULT1A1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I029151 29151789 29160806 1.6 [{'connected_gene': 'SPNS1', 'score': 19.39}, {'connected_gene': 'LOC101928215', 'score': 15.82}, {'connected_gene': 'NPIPB12', 'score': 14.72}, {'connected_gene': 'ENSG00000260853', 'score': 13.78}, {'connected_gene': 'INO80E', 'score': 12.88}, {'connected_gene': 'RRN3P2', 'score': 12.78}, {'connected_gene': 'ATXN2L', 'score': 12.06}, {'connected_gene': 'SMG1P2', 'score': 11.83}, {'connected_gene': 'NFATC2IP', 'score': 11.78}, {'connected_gene': 'ENSG00000198106', 'score': 11.27}, {'connected_gene': 'ENSG00000260367', 'score': 11.12}, {'connected_gene': 'ENSG00000261766', 'score': 11.06}, {'connected_gene': 'ENSG00000251417', 'score': 10.92}, {'connected_gene': 'CDIPT', 'score': 9.79}, {'connected_gene': 'CDC37P1', 'score': 4.92}, {'connected_gene': 'SULT1A1', 'score': 4.77}, {'connected_gene': 'SLX1B', 'score': 4.74}, {'connected_gene': 'PIR59198', 'score': 0.77}, {'connected_gene': 'PIR38535', 'score': 0.77}, {'connected_gene': 'PIR51128', 'score': 0.77}, {'connected_gene': 'PIR33750', 'score': 0.39}, {'connected_gene': 'ENSG00000284685', 'score': 0.37}, {'connected_gene': 'ENSG00000260517', 'score': 0.37}, {'connected_gene': 'ENSG00000284649', 'score': 0.26}]
chr16 GH16I028622 28622332 28624209 1.85 [{'connected_gene': 'NPIPB8', 'score': 550.77}, {'connected_gene': 'SULT1A1', 'score': 550.77}, {'connected_gene': 'TUFM', 'score': 9.25}, {'connected_gene': 'SULT1A2', 'score': 4.53}, {'connected_gene': 'PIR38771', 'score': 0.44}]
chr16 GH16I028617 28617256 28618405 1.18 [{'connected_gene': 'TUFM', 'score': 38.91}, {'connected_gene': 'IL27', 'score': 7.03}, {'connected_gene': 'SBK1', 'score': 1.36}, {'connected_gene': 'PIR38771', 'score': 0.77}, {'connected_gene': 'SULT1A1', 'score': 0.44}]
chr16 GH16I028608 28608554 28611695 1.86 [{'connected_gene': 'SULT1A1', 'score': 555.27}, {'connected_gene': 'GC16P028612', 'score': 550.77}, {'connected_gene': 'GC16P028613', 'score': 550.77}, {'connected_gene': 'PIR42160', 'score': 550.77}, {'connected_gene': 'SULT1A2', 'score': 42.5}, {'connected_gene': 'ENSG00000251417', 'score': 7.09}, {'connected_gene': 'TUFM', 'score': 5.21}, {'connected_gene': 'PIR36325', 'score': 0.77}]
chr16 GH16I028173 28173327 28175581 0.77 [{'connected_gene': 'SULT1A1', 'score': 22.95}, {'connected_gene': 'XPO6', 'score': 12.14}, {'connected_gene': 'APOBR', 'score': 7.41}, {'connected_gene': 'GC16P028181', 'score': 0.77}, {'connected_gene': 'TPRKBP2', 'score': 0.21}]
chr16 GH16I028542 28542601 28544525 1.02 [{'connected_gene': 'SULT1A2', 'score': 60.18}, {'connected_gene': 'TUFM', 'score': 28.42}, {'connected_gene': 'NPIPB7', 'score': 12.19}, {'connected_gene': 'CLN3', 'score': 11.9}, {'connected_gene': 'APOBR', 'score': 11.9}, {'connected_gene': 'CD19', 'score': 10.36}, {'connected_gene': 'RABEP2', 'score': 10.36}, {'connected_gene': 'IL27', 'score': 6.11}, {'connected_gene': 'ENSG00000251417', 'score': 4.3}, {'connected_gene': 'SULT1A1', 'score': 1.93}, {'connected_gene': 'NUPR1', 'score': 0.77}, {'connected_gene': 'ENSG00000271495', 'score': 0.44}]
chr16 GH16I028168 28168108 28169957 0.83 [{'connected_gene': 'XPO6', 'score': 32.59}, {'connected_gene': 'SULT1A1', 'score': 23.62}, {'connected_gene': 'APOBR', 'score': 7.13}, {'connected_gene': 'GC16P028181', 'score': 0.39}, {'connected_gene': 'TPRKBP2', 'score': 0.22}]
chr16 GH16I028157 28157402 28159199 1.29 [{'connected_gene': 'XPO6', 'score': 44.48}, {'connected_gene': 'APOBR', 'score': 21.87}, {'connected_gene': 'SULT1A1', 'score': 2.7}, {'connected_gene': 'GC16P028181', 'score': 0.34}, {'connected_gene': 'TPRKBP2', 'score': 0.25}]
chr16 GH16I028165 28165401 28167738 1.32 [{'connected_gene': 'XPO6', 'score': 57.64}, {'connected_gene': 'APOBR', 'score': 16.05}, {'connected_gene': 'SULT1A1', 'score': 2.32}, {'connected_gene': 'GC16P028181', 'score': 0.39}, {'connected_gene': 'TPRKBP2', 'score': 0.23}]
chr16 GH16I028138 28138496 28144063 1.59 [{'connected_gene': 'XPO6', 'score': 71.43}, {'connected_gene': 'APOBR', 'score': 19.49}, {'connected_gene': 'ATXN2L', 'score': 18.48}, {'connected_gene': 'NFATC2IP', 'score': 16.95}, {'connected_gene': 'SPNS1', 'score': 16.06}, {'connected_gene': 'ENSG00000260853', 'score': 15.34}, {'connected_gene': 'ENSG00000260367', 'score': 12.62}, {'connected_gene': 'ENSG00000200652', 'score': 12.35}, {'connected_gene': 'RNY1P10', 'score': 12.34}, {'connected_gene': 'SGF29', 'score': 11.97}, {'connected_gene': 'NPIPB10P', 'score': 10.29}, {'connected_gene': 'SULT1A1', 'score': 3.14}, {'connected_gene': 'TPRKBP2', 'score': 0.31}, {'connected_gene': 'GC16P028181', 'score': 0.28}]
chr16 GH16I028148 28148674 28150658 1.02 [{'connected_gene': 'XPO6', 'score': 36.74}, {'connected_gene': 'APOBR', 'score': 14.91}, {'connected_gene': 'ENSG00000200652', 'score': 12.27}, {'connected_gene': 'RNY1P10', 'score': 12.25}, {'connected_gene': 'GSG1L', 'score': 10.34}, {'connected_gene': 'SBK1', 'score': 10.23}, {'connected_gene': 'ENSG00000246465', 'score': 10.19}, {'connected_gene': 'SULT1A1', 'score': 3.81}, {'connected_gene': 'GC16P028181', 'score': 0.31}, {'connected_gene': 'TPRKBP2', 'score': 0.28}]
chr16 GH16I028553 28553280 28554939 2.08 [{'connected_gene': 'SGF29', 'score': 562.69}, {'connected_gene': 'ENSG00000275441', 'score': 550.77}, {'connected_gene': 'SULT1A2', 'score': 58.44}, {'connected_gene': 'ATXN2L', 'score': 18.52}, {'connected_gene': 'NFATC2IP', 'score': 16.98}, {'connected_gene': 'SPNS1', 'score': 16.08}, {'connected_gene': 'ENSG00000260853', 'score': 15.36}, {'connected_gene': 'ENSG00000260367', 'score': 12.64}, {'connected_gene': 'NPIPB12', 'score': 12.03}, {'connected_gene': 'NPIPB10P', 'score': 10.31}, {'connected_gene': 'ENSG00000198106', 'score': 9.66}, {'connected_gene': 'SULT1A1', 'score': 4.93}]
chr16 GH16I029147 29147789 29150380 1.39 [{'connected_gene': 'LOC101928215', 'score': 13.6}, {'connected_gene': 'RRN3P2', 'score': 6.21}, {'connected_gene': 'ENSG00000251417', 'score': 4.92}, {'connected_gene': 'SULT1A1', 'score': 4.39}, {'connected_gene': 'PIR49355', 'score': 0.77}, {'connected_gene': 'PIR53244', 'score': 0.77}, {'connected_gene': 'ENSG00000260517', 'score': 0.44}, {'connected_gene': 'ENSG00000284685', 'score': 0.44}, {'connected_gene': 'ENSG00000284649', 'score': 0.28}]
chr16 GH16I028614 28614936 28615282 0.2 [{'connected_gene': 'PIR38771', 'score': 550.77}, {'connected_gene': 'SULT1A1', 'score': 0.44}]
chr16 GH16I028612 28612001 28614568 0.4 [{'connected_gene': 'GC16P028613', 'score': 550.77}, {'connected_gene': 'GC16P028612', 'score': 550.77}, {'connected_gene': 'PIR38771', 'score': 550.77}, {'connected_gene': 'PIR42160', 'score': 550.77}, {'connected_gene': 'SULT1A2', 'score': 8.27}, {'connected_gene': 'TUFM', 'score': 4.82}, {'connected_gene': 'SULT1A1', 'score': 0.39}]
chr16 GH16I028531 28531802 28535509 1.31 [{'connected_gene': 'PIR42560', 'score': 550.77}, {'connected_gene': 'SULT1A2', 'score': 59.53}, {'connected_gene': 'TUFM', 'score': 27.5}, {'connected_gene': 'APOBR', 'score': 13.79}, {'connected_gene': 'SGF29', 'score': 12.1}, {'connected_gene': 'NPIPB7', 'score': 12.1}, {'connected_gene': 'CLN3', 'score': 11.85}, {'connected_gene': 'IL27', 'score': 10.81}, {'connected_gene': 'ENSG00000251417', 'score': 4.34}, {'connected_gene': 'SULT1A1', 'score': 3.37}, {'connected_gene': 'SPNS1', 'score': 2.75}, {'connected_gene': 'EIF3CL', 'score': 2.54}, {'connected_gene': 'EIF3C', 'score': 2.51}, {'connected_gene': 'NUPR1', 'score': 0.44}]
chr16 GH16I028616 28616001 28616200 0.85 [{'connected_gene': 'PIR38771', 'score': 550.77}, {'connected_gene': 'CDC37P1', 'score': 4.73}, {'connected_gene': 'SULT1A1', 'score': 0.44}]

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