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
ENST00000514372 [[42410389, 42415030], [42416643, 42416735], [42424823, 42424916], [42425633, 42425722], [42445581, 42445689], [42446594, 42446651], [42448599, 42448661], [42453997, 42454076], [42457313, 42457436], [42457541, 42457616], [42466706, 42466817], [42466909, 42467093], [42505466, 42505531], [42509032, 42509171]] [[42467069, 42467093], [42505466, 42505531], [42509032, 42509171]]
ENST00000381668 [[42410389, 42415030], [42416643, 42416735], [42424823, 42424916], [42425633, 42425722], [42445581, 42445689], [42446594, 42446651], [42448599, 42448661], [42453997, 42454076], [42457313, 42457436], [42457541, 42457616], [42466706, 42466817], [42466909, 42467093], [42487512, 42487685], [42505466, 42505531], [42509032, 42509171], [42524176, 42524316], [42526779, 42526864], [42545933, 42546003], [42551029, 42551079], [42553214, 42553297], [42554521, 42554627], [42557984, 42558057], [42571177, 42571222], [42576635, 42576724], [42577638, 42577716], [42580276, 42580404], [42581829, 42581995], [42583637, 42583749], [42588365, 42588493], [42590276, 42590346], [42592827, 42592901], [42602494, 42602535], [42618049, 42618095], [42626552, 42626651], [42627630, 42627730], [42629011, 42629126], [42658841, 42659122]] [[42414932, 42415030], [42416643, 42416735], [42424823, 42424916], [42425633, 42425722], [42445581, 42445689], [42446594, 42446651], [42448599, 42448661], [42453997, 42454076], [42457313, 42457436], [42457541, 42457616], [42466706, 42466817], [42466909, 42467093], [42487512, 42487685], [42505466, 42505531], [42509032, 42509171], [42524176, 42524316], [42526779, 42526864], [42545933, 42546003], [42551029, 42551079], [42553214, 42553297], [42554521, 42554627], [42557984, 42558057], [42571177, 42571222], [42576635, 42576724], [42577638, 42577716], [42580276, 42580404], [42581829, 42581995], [42583637, 42583749], [42588365, 42588493], [42590276, 42590346], [42592827, 42592901], [42602494, 42602535], [42618049, 42618095], [42626552, 42626651], [42627630, 42627730], [42629011, 42629126], [42658841, 42658890]]
ENST00000264449 [[42410393, 42415030], [42416643, 42416735], [42424823, 42424916], [42425633, 42425722], [42445581, 42445689], [42446594, 42446651], [42448599, 42448661], [42453997, 42454076], [42457313, 42457436], [42457541, 42457616], [42466706, 42466817], [42466909, 42467093], [42487512, 42487685], [42505466, 42505531], [42509032, 42509171], [42524176, 42524316], [42526779, 42526864], [42545933, 42546003], [42551029, 42551079], [42553214, 42553297], [42554521, 42554627], [42557984, 42558057], [42576635, 42576724], [42577638, 42577716], [42580276, 42580404], [42581829, 42581995], [42583637, 42583749], [42588365, 42588493], [42590276, 42590346], [42596305, 42596379], [42602494, 42602535], [42618049, 42618095], [42626552, 42626651], [42627630, 42627730], [42629011, 42629126], [42658841, 42659110]] [[42414932, 42415030], [42416643, 42416735], [42424823, 42424916], [42425633, 42425722], [42445581, 42445689], [42446594, 42446651], [42448599, 42448661], [42453997, 42454076], [42457313, 42457436], [42457541, 42457616], [42466706, 42466817], [42466909, 42467093], [42487512, 42487685], [42505466, 42505531], [42509032, 42509171], [42524176, 42524316], [42526779, 42526864], [42545933, 42546003], [42551029, 42551079], [42553214, 42553297], [42554521, 42554627], [42557984, 42558057], [42576635, 42576724], [42577638, 42577716], [42580276, 42580404], [42581829, 42581995], [42583637, 42583749], [42588365, 42588493], [42590276, 42590346], [42596305, 42596379], [42602494, 42602535], [42618049, 42618095], [42626552, 42626651], [42627630, 42627730], [42629011, 42629126], [42658841, 42658890]]
ENST00000506602 [[42425633, 42425722], [42445581, 42445689], [42446594, 42446651], [42448599, 42448661], [42453997, 42454076], [42457313, 42457450], [42457541, 42457616], [42466706, 42466817], [42466909, 42467093], [42487512, 42487530]] [[42457411, 42457450], [42457541, 42457616], [42466706, 42466817], [42466909, 42467093], [42487512, 42487530]]
ENST00000504024 [[42583708, 42583749], [42588365, 42588493], [42590276, 42590346], [42602494, 42602535], [42618049, 42618095]] [[42590343, 42590346], [42602494, 42602535], [42618049, 42618095]]
ENST00000511858 [[42414991, 42415030], [42416643, 42417164]] None
ENST00000515872 [[42461374, 42461549], [42466706, 42466817], [42466909, 42467092]] [[42461501, 42461549], [42466706, 42466817], [42466909, 42467092]]
ENST00000506713 [[42554571, 42554627], [42557984, 42558252]] None
ENST00000504510 [[42583698, 42583749], [42588365, 42588493], [42590276, 42590634]] None
ENST00000510289 [[42627157, 42629126], [42658841, 42659110]] [[42629007, 42629126], [42658841, 42658890]]
NM_001105529 [[42410389, 42415030], [42416643, 42416735], [42424823, 42424916], [42425633, 42425722], [42445581, 42445689], [42446594, 42446651], [42448599, 42448661], [42453997, 42454076], [42457313, 42457436], [42457541, 42457616], [42466706, 42466817], [42466909, 42467093], [42487512, 42487685], [42505466, 42505531], [42509032, 42509171], [42524176, 42524316], [42526779, 42526864], [42545933, 42546003], [42551029, 42551079], [42553214, 42553297], [42554521, 42554627], [42557984, 42558057], [42576635, 42576724], [42577638, 42577716], [42580276, 42580404], [42581829, 42581995], [42583637, 42583749], [42588365, 42588493], [42590276, 42590346], [42596305, 42596379], [42602494, 42602535], [42618049, 42618095], [42626552, 42626651], [42627630, 42627730], [42629011, 42629126], [42658841, 42659122]] [[42414932, 42415030], [42416643, 42416735], [42424823, 42424916], [42425633, 42425722], [42445581, 42445689], [42446594, 42446651], [42448599, 42448661], [42453997, 42454076], [42457313, 42457436], [42457541, 42457616], [42466706, 42466817], [42466909, 42467093], [42487512, 42487685], [42505466, 42505531], [42509032, 42509171], [42524176, 42524316], [42526779, 42526864], [42545933, 42546003], [42551029, 42551079], [42553214, 42553297], [42554521, 42554627], [42557984, 42558057], [42576635, 42576724], [42577638, 42577716], [42580276, 42580404], [42581829, 42581995], [42583637, 42583749], [42588365, 42588493], [42590276, 42590346], [42596305, 42596379], [42602494, 42602535], [42618049, 42618095], [42626552, 42626651], [42627630, 42627730], [42629011, 42629126], [42658841, 42658890]]
NM_006095 [[42410389, 42415030], [42416643, 42416735], [42424823, 42424916], [42425633, 42425722], [42445581, 42445689], [42446594, 42446651], [42448599, 42448661], [42453997, 42454076], [42457313, 42457436], [42457541, 42457616], [42466706, 42466817], [42466909, 42467093], [42487512, 42487685], [42505466, 42505531], [42509032, 42509171], [42524176, 42524316], [42526779, 42526864], [42545933, 42546003], [42551029, 42551079], [42553214, 42553297], [42554521, 42554627], [42557984, 42558057], [42571177, 42571222], [42576635, 42576724], [42577638, 42577716], [42580276, 42580404], [42581829, 42581995], [42583637, 42583749], [42588365, 42588493], [42590276, 42590346], [42592827, 42592901], [42602494, 42602535], [42618049, 42618095], [42626552, 42626651], [42627630, 42627730], [42629011, 42629126], [42658841, 42659122]] [[42414932, 42415030], [42416643, 42416735], [42424823, 42424916], [42425633, 42425722], [42445581, 42445689], [42446594, 42446651], [42448599, 42448661], [42453997, 42454076], [42457313, 42457436], [42457541, 42457616], [42466706, 42466817], [42466909, 42467093], [42487512, 42487685], [42505466, 42505531], [42509032, 42509171], [42524176, 42524316], [42526779, 42526864], [42545933, 42546003], [42551029, 42551079], [42553214, 42553297], [42554521, 42554627], [42557984, 42558057], [42571177, 42571222], [42576635, 42576724], [42577638, 42577716], [42580276, 42580404], [42581829, 42581995], [42583637, 42583749], [42588365, 42588493], [42590276, 42590346], [42592827, 42592901], [42602494, 42602535], [42618049, 42618095], [42626552, 42626651], [42627630, 42627730], [42629011, 42629126], [42658841, 42658890]]
Promoter
Chrom Start End Description
chr4 42658957 42658974 CAGE_peak_5_at_ATP8A1_5end
chr4 42658982 42659008 CAGE_peak_3_at_ATP8A1_5end
chr4 42659011 42659029 CAGE_peak_4_at_ATP8A1_5end
chr4 42659057 42659100 CAGE_peak_2_at_ATP8A1_5end
chr4 42659102 42659161 CAGE_peak_1_at_ATP8A1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I042817 42817209 42817595 0.39 [{'connected_gene': 'GRXCR1', 'score': 2.16}, {'connected_gene': 'ATP8A1', 'score': 1.54}, {'connected_gene': 'LOC105374431', 'score': 0.29}, {'connected_gene': 'RN7SKP82', 'score': 0.19}]
chr4 GH04I042546 42546261 42546648 0.26 [{'connected_gene': 'GRXCR1', 'score': 1.44}, {'connected_gene': 'CCNL2P1', 'score': 0.37}, {'connected_gene': 'RPS7P7', 'score': 0.19}, {'connected_gene': 'ATP8A1', 'score': 0.14}]
chr4 GH04I042425 42425235 42425913 0.71 [{'connected_gene': 'SHISA3', 'score': 12.11}, {'connected_gene': 'LOC105374428', 'score': 12.1}, {'connected_gene': 'ATP8A1', 'score': 6.09}, {'connected_gene': 'RPS7P7', 'score': 0.25}]
chr4 GH04I042397 42397200 42397801 1.66 [{'connected_gene': 'SHISA3', 'score': 550.77}, {'connected_gene': 'ATP8A1', 'score': 5.77}, {'connected_gene': 'LOC105374428', 'score': 0.44}]
chr4 GH04I042410 42410924 42414028 0.54 [{'connected_gene': 'SHISA3', 'score': 0.39}, {'connected_gene': 'RPS7P7', 'score': 0.22}, {'connected_gene': 'ATP8A1', 'score': 0.07}]
chr4 GH04I042638 42638804 42644789 1.43 [{'connected_gene': 'ATP8A1', 'score': 18.65}, {'connected_gene': 'SHISA3', 'score': 4.61}, {'connected_gene': 'GRXCR1', 'score': 3.15}, {'connected_gene': 'GC04P042610', 'score': 0.29}]
chr4 GH04I042607 42607288 42608782 0.52 [{'connected_gene': 'ATP8A1', 'score': 13.46}, {'connected_gene': 'SHISA3', 'score': 4.71}, {'connected_gene': 'GC04P042610', 'score': 0.77}, {'connected_gene': 'GC04P042579', 'score': 0.31}]
chr4 GH04I042482 42482458 42484198 0.49 [{'connected_gene': 'ATP8A1', 'score': 5.12}, {'connected_gene': 'RPS7P7', 'score': 0.39}, {'connected_gene': 'CCNL2P1', 'score': 0.18}]
chr4 GH04I042653 42653499 42658910 2.23 [{'connected_gene': 'ATP8A1', 'score': 582.15}, {'connected_gene': 'ENSG00000260519', 'score': 550.77}, {'connected_gene': 'GC04P042610', 'score': 0.25}]
chr4 GH04I042633 42633070 42634195 0.92 [{'connected_gene': 'ATP8A1', 'score': 9.31}, {'connected_gene': 'GC04P042610', 'score': 0.34}]
chr4 GH04I042614 42614307 42615898 0.2 [{'connected_gene': 'ATP8A1', 'score': 17.69}, {'connected_gene': 'GC04P042610', 'score': 0.77}]
chr4 GH04I042626 42626146 42629754 1.16 [{'connected_gene': 'ATP8A1', 'score': 18.11}, {'connected_gene': 'GC04P042610', 'score': 0.37}]
chr4 GH04I042619 42619324 42621350 0.2 [{'connected_gene': 'ATP8A1', 'score': 17.73}, {'connected_gene': 'GC04P042610', 'score': 0.39}]
chr4 GH04I042647 42647104 42647253 0.51 [{'connected_gene': 'ATP8A1', 'score': 0.44}, {'connected_gene': 'GC04P042610', 'score': 0.28}]
chr4 GH04I042635 42635904 42636963 0.69 [{'connected_gene': 'ATP8A1', 'score': 25.61}, {'connected_gene': 'GC04P042610', 'score': 0.31}]
chr4 GH04I042617 42617590 42618951 0.4 [{'connected_gene': 'ATP8A1', 'score': 17.66}, {'connected_gene': 'GC04P042610', 'score': 0.44}]
chr4 GH04I042568 42568744 42568873 0.56 [{'connected_gene': 'CCNL2P1', 'score': 0.44}, {'connected_gene': 'GC04P042579', 'score': 0.39}, {'connected_gene': 'ATP8A1', 'score': 0.17}]
chr4 GH04I042460 42460184 42460333 0.65 [{'connected_gene': 'RPS7P7', 'score': 0.39}, {'connected_gene': 'SHISA3', 'score': 0.21}, {'connected_gene': 'ATP8A1', 'score': 0.08}]
chr4 GH04I042492 42492722 42493589 0.43 [{'connected_gene': 'RPS7P7', 'score': 0.34}, {'connected_gene': 'CCNL2P1', 'score': 0.2}, {'connected_gene': 'ATP8A1', 'score': 0.1}]
chr4 GH04I042616 42616554 42617479 0.31 [{'connected_gene': 'GC04P042610', 'score': 0.44}, {'connected_gene': 'ATP8A1', 'score': 0.26}]
chr4 GH04I042605 42605284 42605433 0.51 [{'connected_gene': 'GC04P042610', 'score': 0.77}, {'connected_gene': 'GC04P042579', 'score': 0.31}, {'connected_gene': 'ATP8A1', 'score': 0.23}]

© 2018 bmi.sjtu.edu.cn. All rights reserved.
浙ICP备18030141号.