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
ENST00000560217 [[78832746, 78832881], [78834246, 78834272], [78834518, 78834561], [78834917, 78834987], [78836531, 78836609], [78837210, 78837299], [78837975, 78838106], [78838916, 78839040], [78841131, 78841379]] [[78834269, 78834272], [78834518, 78834561], [78834917, 78834987], [78836531, 78836609], [78837210, 78837299], [78837975, 78838106], [78838916, 78839040], [78841131, 78841286]]
ENST00000044462 [[78832754, 78832881], [78834246, 78834272], [78834518, 78834561], [78834824, 78834987], [78836531, 78836609], [78837210, 78837299], [78837975, 78838106], [78838916, 78839040], [78841131, 78841604]] [[78834269, 78834272], [78834518, 78834561], [78834824, 78834987], [78836531, 78836609], [78837210, 78837299], [78837975, 78838106], [78838916, 78839040], [78841131, 78841286]]
ENST00000559082 [[78832762, 78832805], [78834246, 78834272], [78834518, 78834561], [78834824, 78834987], [78836531, 78836609], [78837210, 78837299], [78837975, 78838106], [78838916, 78839040], [78841131, 78841528]] [[78834269, 78834272], [78834518, 78834561], [78834824, 78834987], [78836531, 78836609], [78837210, 78837299], [78837975, 78838106], [78838916, 78839040], [78841131, 78841286]]
ENST00000560033 [[78832768, 78832805], [78834246, 78834272], [78834518, 78835025]] None
ENST00000559948 [[78832768, 78832881], [78834246, 78834272], [78834824, 78834987], [78836531, 78836609], [78837210, 78837299], [78837975, 78838106], [78838916, 78839026]] [[78834850, 78834987], [78836531, 78836609], [78837210, 78837299], [78837975, 78838106], [78838916, 78839026]]
ENST00000413382 [[78832768, 78832881], [78834246, 78834272], [78834518, 78834561], [78836531, 78836609], [78837210, 78837299], [78837975, 78838106], [78838916, 78839040], [78841131, 78841546]] [[78836535, 78836609], [78837210, 78837299], [78837975, 78838106], [78838916, 78839040], [78841131, 78841286]]
ENST00000559146 [[78832781, 78832881], [78834246, 78834272], [78834518, 78834561], [78834824, 78834987], [78837210, 78837299], [78837975, 78838106], [78838916, 78839038]] [[78834269, 78834272], [78834518, 78834561], [78834824, 78834987], [78837210, 78837299], [78837975, 78838106], [78838916, 78839038]]
ENST00000558639 [[78832785, 78832881], [78834246, 78834272], [78834518, 78834987], [78836531, 78836609], [78837210, 78837274]] None
ENST00000559934 [[78832785, 78834987], [78836531, 78836609], [78837210, 78837299], [78837975, 78838106], [78838916, 78839040], [78841131, 78841248]] None
ENST00000558635 [[78832800, 78832881], [78834246, 78834901]] None
ENST00000560099 [[78832802, 78834561], [78836531, 78836609], [78837210, 78837299], [78837975, 78838106], [78838916, 78839040], [78841131, 78841546]] None
ENST00000557929 [[78832808, 78832881], [78834246, 78834272], [78834518, 78834561], [78834824, 78834987], [78836531, 78836609], [78837210, 78837299], [78837975, 78838106], [78838920, 78838952]] None
ENST00000558281 [[78832819, 78832881], [78834246, 78834272], [78834518, 78834561], [78834824, 78834987], [78836531, 78836609], [78837210, 78837299], [78837975, 78838106], [78841131, 78841312]] [[78834269, 78834272], [78834518, 78834561], [78834824, 78834987], [78836531, 78836609], [78837210, 78837299], [78837975, 78838106], [78841131, 78841149]]
ENST00000559365 [[78833076, 78833177], [78834246, 78834272], [78834518, 78834561], [78834824, 78834987], [78836531, 78836609], [78837210, 78837299], [78837975, 78838106], [78838916, 78839040], [78841131, 78841162]] [[78834269, 78834272], [78834518, 78834561], [78834824, 78834987], [78836531, 78836609], [78837210, 78837299], [78837975, 78838106], [78838916, 78839040], [78841131, 78841162]]
ENST00000558341 [[78833155, 78833177], [78834246, 78834272], [78834518, 78834561], [78834824, 78834987], [78836531, 78836609], [78841131, 78841518]] [[78834269, 78834272], [78834518, 78834561], [78834824, 78834987], [78836531, 78836609], [78841131, 78841222]]
ENST00000559437 [[78833188, 78833292], [78834246, 78834272], [78834518, 78834561], [78834824, 78834987], [78836531, 78836609], [78837210, 78837299], [78837975, 78838106], [78838916, 78839038]] [[78834269, 78834272], [78834518, 78834561], [78834824, 78834987], [78836531, 78836609], [78837210, 78837299], [78837975, 78838106], [78838916, 78839038]]
ENST00000560842 [[78833897, 78834272], [78834518, 78834717]] None
ENST00000560737 [[78834031, 78834113], [78834246, 78834272], [78834518, 78834561], [78834824, 78834987], [78836531, 78836609], [78837210, 78837299], [78837975, 78838106], [78838916, 78839040], [78841131, 78841210]] [[78834269, 78834272], [78834518, 78834561], [78834824, 78834987], [78836531, 78836609], [78837210, 78837299], [78837975, 78838106], [78838916, 78839040], [78841131, 78841210]]
ENST00000559906 [[78836159, 78836609], [78837210, 78837299], [78837975, 78838019]] None
ENST00000559154 [[78836917, 78837299], [78837975, 78838106], [78838916, 78839040]] [[78837187, 78837299], [78837975, 78838106], [78838916, 78839040]]
ENST00000558094 [[78836986, 78837299], [78837975, 78838106], [78841131, 78841338]] [[78837187, 78837299], [78837975, 78838106], [78841131, 78841149]]
NM_001102667 [[78832746, 78832805], [78834246, 78834272], [78834518, 78834561], [78834824, 78834987], [78836531, 78836609], [78837210, 78837299], [78837975, 78838106], [78838916, 78839040], [78841131, 78841604]] [[78834269, 78834272], [78834518, 78834561], [78834824, 78834987], [78836531, 78836609], [78837210, 78837299], [78837975, 78838106], [78838916, 78839040], [78841131, 78841286]]
NM_001102668 [[78832746, 78832881], [78834246, 78834272], [78834518, 78834561], [78836531, 78836609], [78837210, 78837299], [78837975, 78838106], [78838916, 78839040], [78841131, 78841604]] [[78836535, 78836609], [78837210, 78837299], [78837975, 78838106], [78838916, 78839040], [78841131, 78841286]]
NM_001330675 [[78832746, 78832881], [78834246, 78834272], [78834518, 78834561], [78834917, 78834987], [78836531, 78836609], [78837210, 78837299], [78837975, 78838106], [78838916, 78839040], [78841131, 78841604]] [[78834269, 78834272], [78834518, 78834561], [78834917, 78834987], [78836531, 78836609], [78837210, 78837299], [78837975, 78838106], [78838916, 78839040], [78841131, 78841286]]
NM_001330673 [[78832746, 78832881], [78834246, 78834272], [78834518, 78834561], [78834824, 78834987], [78836531, 78836609], [78837210, 78837299], [78837975, 78838106], [78841131, 78841604]] [[78834269, 78834272], [78834518, 78834561], [78834824, 78834987], [78836531, 78836609], [78837210, 78837299], [78837975, 78838106], [78841131, 78841149]]
NM_002789 [[78832746, 78832881], [78834246, 78834272], [78834518, 78834561], [78834824, 78834987], [78836531, 78836609], [78837210, 78837299], [78837975, 78838106], [78838916, 78839040], [78841131, 78841604]] [[78834269, 78834272], [78834518, 78834561], [78834824, 78834987], [78836531, 78836609], [78837210, 78837299], [78837975, 78838106], [78838916, 78839040], [78841131, 78841286]]
NM_001330676 [[78833027, 78833177], [78834246, 78834272], [78834518, 78834561], [78834824, 78834987], [78836531, 78836609], [78837210, 78837299], [78837975, 78838106], [78838916, 78839040], [78841131, 78841604]] [[78834269, 78834272], [78834518, 78834561], [78834824, 78834987], [78836531, 78836609], [78837210, 78837299], [78837975, 78838106], [78838916, 78839040], [78841131, 78841286]]
Promoter
Chrom Start End Description
chr15 78832757 78832806 CAGE_peak_1_at_PSMA4_5end
chr15 78833071 78833084 CAGE_peak_4_at_PSMA4_5end
chr15 78833105 78833192 CAGE_peak_2_at_PSMA4_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr15 GH15I078492 78492599 78493310 0.49 [{'connected_gene': 'WDR61', 'score': 11.64}, {'connected_gene': 'IREB2', 'score': 11.12}, {'connected_gene': 'PSMA4', 'score': 9.44}, {'connected_gene': 'GC15M078501', 'score': 0.44}, {'connected_gene': 'GC15M078500', 'score': 0.44}, {'connected_gene': 'ENSG00000259474', 'score': 0.39}, {'connected_gene': 'GC15M078021', 'score': 0.08}]
chr15 GH15I078637 78637230 78638426 0.43 [{'connected_gene': 'PSMA4', 'score': 5.66}, {'connected_gene': 'PIR44812', 'score': 0.44}, {'connected_gene': 'GC15P078627', 'score': 0.39}, {'connected_gene': 'LOC646934', 'score': 0.34}, {'connected_gene': 'GC15M078021', 'score': 0.21}, {'connected_gene': 'CHRNB4', 'score': 0.17}]
chr15 GH15I078453 78453201 78457704 1.26 [{'connected_gene': 'PSMA4', 'score': 19.94}, {'connected_gene': 'IREB2', 'score': 16.27}, {'connected_gene': 'WDR61', 'score': 10.41}, {'connected_gene': 'CRABP1', 'score': 9.98}, {'connected_gene': 'ENSG00000259474', 'score': 0.31}, {'connected_gene': 'GC15M078021', 'score': 0.07}]
chr15 GH15I078539 78539505 78542505 2.03 [{'connected_gene': 'PSMA4', 'score': 564.77}, {'connected_gene': 'CHRNA5', 'score': 83.13}, {'connected_gene': 'HYKK', 'score': 12.3}, {'connected_gene': 'IREB2', 'score': 6.07}, {'connected_gene': 'GC15M078021', 'score': 0.1}]
chr15 GH15I078638 78638859 78639008 0.68 [{'connected_gene': 'IREB2', 'score': 14.04}, {'connected_gene': 'ENSG00000259562', 'score': 11.66}, {'connected_gene': 'PSMA4', 'score': 11.1}, {'connected_gene': 'TBC1D2B', 'score': 10.27}, {'connected_gene': 'PIR44812', 'score': 0.44}, {'connected_gene': 'GC15P078627', 'score': 0.39}, {'connected_gene': 'LOC646934', 'score': 0.34}, {'connected_gene': 'GC15M078021', 'score': 0.21}, {'connected_gene': 'CHRNB4', 'score': 0.17}]
chr15 GH15I078464 78464823 78466534 0.2 [{'connected_gene': 'IREB2', 'score': 28.05}, {'connected_gene': 'HYKK', 'score': 11.72}, {'connected_gene': 'WDR61', 'score': 11.08}, {'connected_gene': 'CHRNA5', 'score': 10.62}, {'connected_gene': 'PSMA4', 'score': 9.4}, {'connected_gene': 'ENSG00000259474', 'score': 0.37}, {'connected_gene': 'GC15M078021', 'score': 0.07}]
chr15 GH15I078436 78436676 78440861 2.29 [{'connected_gene': 'IREB2', 'score': 572.3}, {'connected_gene': 'CHRNA5', 'score': 33.72}, {'connected_gene': 'TBC1D2B', 'score': 13.28}, {'connected_gene': 'ENSG00000260988', 'score': 11.55}, {'connected_gene': 'WDR61', 'score': 11.37}, {'connected_gene': 'ENSG00000259792', 'score': 10.57}, {'connected_gene': 'PSMA4', 'score': 9.31}, {'connected_gene': 'ENSG00000259474', 'score': 0.26}, {'connected_gene': 'GC15M078021', 'score': 0.07}]
chr15 GH15I077664 77664099 77664228 0.66 [{'connected_gene': 'TBC1D2B', 'score': 14.9}, {'connected_gene': 'IREB2', 'score': 12.57}, {'connected_gene': 'ENSG00000259562', 'score': 10.71}, {'connected_gene': 'PSMA4', 'score': 10.68}, {'connected_gene': 'LINGO1-AS2', 'score': 0.77}, {'connected_gene': 'ENSG00000280359', 'score': 0.13}, {'connected_gene': 'LINGO1', 'score': 0.1}]
chr15 GH15I078506 78506716 78508844 1.98 [{'connected_gene': 'HYKK', 'score': 550.77}, {'connected_gene': 'IREB2', 'score': 17.03}, {'connected_gene': 'PSMA4', 'score': 11.54}, {'connected_gene': 'ENSG00000279373', 'score': 0.31}, {'connected_gene': 'GC15M078021', 'score': 0.08}]
chr15 GH15I078640 78640800 78642676 1.8 [{'connected_gene': 'CHRNB4', 'score': 550.17}, {'connected_gene': 'CHRNA5', 'score': 14.64}, {'connected_gene': 'IREB2', 'score': 14.04}, {'connected_gene': 'ENSG00000259562', 'score': 11.66}, {'connected_gene': 'PSMA4', 'score': 11.09}, {'connected_gene': 'TBC1D2B', 'score': 10.27}, {'connected_gene': 'ENSG00000261762', 'score': 6.81}, {'connected_gene': 'PIR44812', 'score': 0.39}, {'connected_gene': 'LOC646934', 'score': 0.37}, {'connected_gene': 'GC15M078021', 'score': 0.22}]
chr15 GH15I078564 78564707 78566946 1.93 [{'connected_gene': 'CHRNA5', 'score': 598.59}, {'connected_gene': 'PSMA4', 'score': 13.84}, {'connected_gene': 'IREB2', 'score': 13.14}, {'connected_gene': 'TBC1D2B', 'score': 10.96}, {'connected_gene': 'HYKK', 'score': 10.75}, {'connected_gene': 'MORF4L1', 'score': 9.42}, {'connected_gene': 'ADAMTS7', 'score': 9.41}, {'connected_gene': 'CRABP1', 'score': 9.36}, {'connected_gene': 'RASGRF1', 'score': 4.7}, {'connected_gene': 'ENSG00000261762', 'score': 0.31}, {'connected_gene': 'GC15M078021', 'score': 0.12}]
chr15 GH15I078447 78447512 78451094 1.19 [{'connected_gene': 'CHRNA5', 'score': 33.71}, {'connected_gene': 'CRABP1', 'score': 10.19}, {'connected_gene': 'PSMA4', 'score': 9.2}, {'connected_gene': 'IREB2', 'score': 0.39}, {'connected_gene': 'ENSG00000259474', 'score': 0.29}, {'connected_gene': 'GC15M078021', 'score': 0.07}]
chr15 GH15I078871 78871488 78876126 2.29 [{'connected_gene': 'MORF4L1', 'score': 558.36}, {'connected_gene': 'IREB2', 'score': 33.48}, {'connected_gene': 'ENSG00000259562', 'score': 23.0}, {'connected_gene': 'PSMA4', 'score': 20.52}, {'connected_gene': 'TBC1D2B', 'score': 19.49}, {'connected_gene': 'RNU6-415P', 'score': 12.77}, {'connected_gene': 'ENSG00000260988', 'score': 11.51}, {'connected_gene': 'WDR61', 'score': 11.28}, {'connected_gene': 'LOC100129540', 'score': 11.26}, {'connected_gene': 'ENSG00000259322', 'score': 10.84}, {'connected_gene': 'ADAMTS7', 'score': 8.25}, {'connected_gene': 'RPL21P116', 'score': 0.39}]
chr15 GH15I078128 78128814 78132386 2.21 [{'connected_gene': 'CIB2', 'score': 596.45}, {'connected_gene': 'IDH3A', 'score': 550.77}, {'connected_gene': 'ENSG00000259562', 'score': 15.66}, {'connected_gene': 'IREB2', 'score': 13.75}, {'connected_gene': 'TBC1D2B', 'score': 12.09}, {'connected_gene': 'PSMA4', 'score': 9.77}, {'connected_gene': 'PIR50456', 'score': 0.31}, {'connected_gene': 'GC15M078021', 'score': 0.03}]
chr15 GH15I077540 77540681 77544108 1.39 [{'connected_gene': 'LOC101929457', 'score': 19.65}, {'connected_gene': 'IREB2', 'score': 17.92}, {'connected_gene': 'PSMA4', 'score': 12.27}, {'connected_gene': 'LINGO1', 'score': 10.69}, {'connected_gene': 'PEAK1', 'score': 10.6}, {'connected_gene': 'TSPAN3', 'score': 10.53}, {'connected_gene': 'HMG20A', 'score': 8.41}, {'connected_gene': 'LOC105370906', 'score': 0.31}]
chr15 GH15I078357 78357955 78360778 0.63 [{'connected_gene': 'ENSG00000259562', 'score': 15.76}, {'connected_gene': 'PSMA4', 'score': 14.01}, {'connected_gene': 'IREB2', 'score': 13.87}, {'connected_gene': 'TBC1D2B', 'score': 11.92}, {'connected_gene': 'GC15P078347', 'score': 0.39}, {'connected_gene': 'LOC105370912', 'score': 0.37}, {'connected_gene': 'GC15M078021', 'score': 0.05}]
chr15 GH15I079178 79178211 79180135 1.19 [{'connected_gene': 'ENSG00000259562', 'score': 15.58}, {'connected_gene': 'IREB2', 'score': 13.71}, {'connected_gene': 'RASGRF1', 'score': 11.14}, {'connected_gene': 'PSMA4', 'score': 9.75}, {'connected_gene': 'GC15P079181', 'score': 0.77}]
chr15 GH15I077604 77604137 77605200 1.12 [{'connected_gene': 'ENSG00000259562', 'score': 23.46}, {'connected_gene': 'IREB2', 'score': 23.02}, {'connected_gene': 'TBC1D2B', 'score': 14.9}, {'connected_gene': 'LINGO1', 'score': 12.49}, {'connected_gene': 'PSMA4', 'score': 10.68}, {'connected_gene': 'LOC101929457', 'score': 10.24}, {'connected_gene': 'WDR61', 'score': 10.1}, {'connected_gene': 'ENSG00000260988', 'score': 10.08}, {'connected_gene': 'ENSG00000259322', 'score': 9.8}, {'connected_gene': 'HYKK', 'score': 9.73}, {'connected_gene': 'PEAK1', 'score': 7.75}, {'connected_gene': 'GC15P077635', 'score': 0.29}, {'connected_gene': 'LOC105370906', 'score': 0.28}, {'connected_gene': 'PIR57145', 'score': 0.28}]
chr15 GH15I077884 77884801 77886001 1.31 [{'connected_gene': 'ENSG00000259562', 'score': 57.31}, {'connected_gene': 'IREB2', 'score': 54.73}, {'connected_gene': 'TBC1D2B', 'score': 26.3}, {'connected_gene': 'ENSG00000259322', 'score': 13.0}, {'connected_gene': 'WDR61', 'score': 11.75}, {'connected_gene': 'LOC645752', 'score': 11.41}, {'connected_gene': 'ENSG00000260988', 'score': 11.29}, {'connected_gene': 'PSMA4', 'score': 9.75}, {'connected_gene': 'CSPG4P13', 'score': 0.44}, {'connected_gene': 'DNM1P9', 'score': 0.34}]
chr15 GH15I078417 78417922 78420045 0.82 [{'connected_gene': 'ENSG00000259562', 'score': 70.62}, {'connected_gene': 'IREB2', 'score': 49.74}, {'connected_gene': 'TBC1D2B', 'score': 33.09}, {'connected_gene': 'WDR61', 'score': 20.99}, {'connected_gene': 'ENSG00000259322', 'score': 11.81}, {'connected_gene': 'CRABP1', 'score': 11.68}, {'connected_gene': 'CHRNA5', 'score': 11.32}, {'connected_gene': 'HMG20A', 'score': 9.73}, {'connected_gene': 'PSMA4', 'score': 7.03}, {'connected_gene': 'ENSG00000259413', 'score': 0.28}, {'connected_gene': 'RWDD1P1', 'score': 0.28}, {'connected_gene': 'GC15M078021', 'score': 0.06}]
chr15 GH15I077621 77621539 77624270 1.14 [{'connected_gene': 'ENSG00000259562', 'score': 69.62}, {'connected_gene': 'IREB2', 'score': 49.98}, {'connected_gene': 'TBC1D2B', 'score': 40.45}, {'connected_gene': 'WDR61', 'score': 37.39}, {'connected_gene': 'HMG20A', 'score': 25.29}, {'connected_gene': 'ENSG00000259322', 'score': 22.52}, {'connected_gene': 'ENSG00000260988', 'score': 19.18}, {'connected_gene': 'PSMA4', 'score': 10.68}, {'connected_gene': 'HYKK', 'score': 10.58}, {'connected_gene': 'LOC645752', 'score': 7.59}, {'connected_gene': 'ENSG00000269951', 'score': 5.49}, {'connected_gene': 'GC15P077635', 'score': 0.39}, {'connected_gene': 'PIR57145', 'score': 0.23}, {'connected_gene': 'LINGO1', 'score': 0.08}]

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