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
ENST00000452339 [[133561735, 133561975], [133562636, 133562887], [133595853, 133595951], [133703529, 133703579], [133767767, 133767892], [133782251, 133782318], [133783472, 133783615], [133783758, 133783902], [133785916, 133785996], [133789703, 133789869], [133802600, 133802737], [133804169, 133804253], [133827243, 133827333], [133833858, 133833917], [133834015, 133834176], [133836458, 133836573], [133844193, 133844315], [133846152, 133846253], [133849862, 133850040]] [[133595918, 133595951], [133703529, 133703579], [133767767, 133767892], [133782251, 133782318], [133783472, 133783615], [133783758, 133783902], [133785916, 133785996], [133789703, 133789869], [133802600, 133802737], [133804169, 133804253], [133827243, 133827333], [133833858, 133833917], [133834015, 133834176], [133836458, 133836573], [133844193, 133844315], [133846152, 133846253], [133849862, 133849943]]
ENST00000430974 [[133562488, 133562887], [133595853, 133595951], [133703529, 133703579], [133767767, 133767892], [133782251, 133782318], [133783472, 133783615], [133783758, 133783902], [133785916, 133785996], [133789703, 133789887], [133802600, 133802737], [133804169, 133804253], [133827243, 133827333], [133833858, 133833917], [133834015, 133834176], [133836458, 133836573], [133844193, 133844315], [133846152, 133846253], [133852346, 133852551]] [[133595918, 133595951], [133703529, 133703579], [133767767, 133767892], [133782251, 133782318], [133783472, 133783615], [133783758, 133783902], [133785916, 133785996], [133789703, 133789887], [133802600, 133802737], [133804169, 133804253], [133827243, 133827333], [133833858, 133833917], [133834015, 133834176], [133836458, 133836573], [133844193, 133844315], [133846152, 133846253], [133852346, 133852364]]
ENST00000367895 [[133562488, 133562887], [133595853, 133595951], [133703529, 133703579], [133767767, 133767892], [133769248, 133769317], [133777693, 133777786], [133782251, 133782318], [133783472, 133783615], [133783758, 133783902], [133785916, 133785996], [133789703, 133789869], [133802600, 133802737], [133804169, 133804253], [133827243, 133827333], [133833858, 133833917], [133834015, 133834176], [133836458, 133836573], [133844193, 133844315], [133846291, 133846392], [133849862, 133853258]] [[133595918, 133595951], [133703529, 133703579], [133767767, 133767892], [133769248, 133769317], [133777693, 133777786], [133782251, 133782318], [133783472, 133783615], [133783758, 133783902], [133785916, 133785996], [133789703, 133789869], [133802600, 133802737], [133804169, 133804253], [133827243, 133827333], [133833858, 133833917], [133834015, 133834176], [133836458, 133836573], [133844193, 133844315], [133846291, 133846392], [133849862, 133849943]]
ENST00000355167 [[133562494, 133562887], [133595853, 133595951], [133703529, 133703579], [133767767, 133767892], [133769248, 133769317], [133777693, 133777786], [133782251, 133782318], [133783472, 133783615], [133783758, 133783902], [133785916, 133785996], [133789703, 133789869], [133802600, 133802737], [133804169, 133804253], [133827243, 133827333], [133833858, 133833917], [133834015, 133834176], [133836458, 133836573], [133844193, 133844315], [133846152, 133846253], [133849862, 133853257]] [[133595918, 133595951], [133703529, 133703579], [133767767, 133767892], [133769248, 133769317], [133777693, 133777786], [133782251, 133782318], [133783472, 133783615], [133783758, 133783902], [133785916, 133785996], [133789703, 133789869], [133802600, 133802737], [133804169, 133804253], [133827243, 133827333], [133833858, 133833917], [133834015, 133834176], [133836458, 133836573], [133844193, 133844315], [133846152, 133846253], [133849862, 133849943]]
ENST00000355286 [[133562555, 133562887], [133595853, 133595951], [133703529, 133703579], [133767767, 133767892], [133777693, 133777786], [133782251, 133782318], [133783472, 133783615], [133783758, 133783902], [133785916, 133785996], [133789703, 133789869], [133802600, 133802737], [133804169, 133804253], [133827243, 133827333], [133833858, 133833917], [133834015, 133834176], [133836458, 133836573], [133844193, 133844315], [133846291, 133846392], [133849862, 133852012]] [[133595918, 133595951], [133703529, 133703579], [133767767, 133767892], [133777693, 133777786], [133782251, 133782318], [133783472, 133783615], [133783758, 133783902], [133785916, 133785996], [133789703, 133789869], [133802600, 133802737], [133804169, 133804253], [133827243, 133827333], [133833858, 133833917], [133834015, 133834176], [133836458, 133836573], [133844193, 133844315], [133846291, 133846392], [133849862, 133849943]]
ENST00000531901 [[133562723, 133562887], [133595853, 133595951], [133703529, 133703579], [133767767, 133767892], [133769248, 133769317], [133777693, 133777786], [133782251, 133782318], [133783472, 133783615], [133783758, 133783902], [133785916, 133785996], [133789703, 133789887], [133802600, 133802737], [133804169, 133804253], [133827243, 133827333], [133833858, 133833917], [133834015, 133834176], [133836458, 133836573], [133844193, 133844315], [133846291, 133846392], [133849862, 133850668]] [[133595918, 133595951], [133703529, 133703579], [133767767, 133767892], [133769248, 133769317], [133777693, 133777786], [133782251, 133782318], [133783472, 133783615], [133783758, 133783902], [133785916, 133785996], [133789703, 133789887], [133802600, 133802737], [133804169, 133804253], [133827243, 133827333], [133833858, 133833917], [133834015, 133834176], [133836458, 133836573], [133844193, 133844315], [133846291, 133846392], [133849862, 133849943]]
ENST00000525849 [[133562768, 133562887], [133595853, 133595951], [133703529, 133703579], [133767767, 133767892], [133777693, 133777786], [133782251, 133782318], [133783472, 133783615], [133783758, 133783902], [133785916, 133785996], [133789703, 133789869], [133802600, 133802737], [133804169, 133804253], [133827243, 133827333], [133833858, 133833917], [133834015, 133834176], [133836458, 133836573], [133844193, 133844315], [133846152, 133846253], [133849862, 133851364]] [[133595918, 133595951], [133703529, 133703579], [133767767, 133767892], [133777693, 133777786], [133782251, 133782318], [133783472, 133783615], [133783758, 133783902], [133785916, 133785996], [133789703, 133789869], [133802600, 133802737], [133804169, 133804253], [133827243, 133827333], [133833858, 133833917], [133834015, 133834176], [133836458, 133836573], [133844193, 133844315], [133846152, 133846253], [133849862, 133849943]]
ENST00000531861 [[133595918, 133595951], [133703529, 133703579], [133767767, 133767892], [133769248, 133769317], [133777693, 133777786], [133782251, 133782318], [133783472, 133783615], [133783758, 133783902], [133785916, 133785996], [133789703, 133789869], [133802600, 133802737], [133804169, 133804253], [133827243, 133827333], [133833858, 133833917], [133834083, 133834102]] None
ENST00000431403 [[133595918, 133595951], [133703529, 133703579], [133767767, 133767892], [133769248, 133769317], [133777693, 133777786], [133782251, 133782318], [133783472, 133783615], [133783758, 133783902], [133785916, 133785996], [133789703, 133789869], [133802600, 133802737], [133804169, 133804253], [133827243, 133827333], [133833858, 133833917], [133834015, 133834176], [133836458, 133836573], [133844193, 133844315], [133846152, 133846253], [133849862, 133850177]] [[133595918, 133595951], [133703529, 133703579], [133767767, 133767892], [133769248, 133769317], [133777693, 133777786], [133782251, 133782318], [133783472, 133783615], [133783758, 133783902], [133785916, 133785996], [133789703, 133789869], [133802600, 133802737], [133804169, 133804253], [133827243, 133827333], [133833858, 133833917], [133834015, 133834176], [133836458, 133836573], [133844193, 133844315], [133846152, 133846253], [133849862, 133849943]]
ENST00000421413 [[133646348, 133646552], [133703529, 133703579], [133767767, 133767892], [133777693, 133777786], [133782251, 133782318], [133783501, 133783615], [133783758, 133783902], [133785916, 133785996], [133789703, 133789707]] None
ENST00000525614 [[133681342, 133681359], [133681696, 133681808], [133684306, 133684547], [133703529, 133703579], [133767767, 133767892], [133782251, 133782263]] None
ENST00000532518 [[133783850, 133783902], [133785916, 133785996], [133789703, 133789887], [133802600, 133802737], [133804169, 133804253], [133827243, 133827333], [133833858, 133833917], [133834083, 133834167]] None
ENST00000441015 [[133562510, 133562887], [133566235, 133566367], [133568001, 133569991]] None
ENST00000497350 [[133783258, 133783615], [133783758, 133783872]] None
NM_172103 [[133562494, 133562887], [133595853, 133595951], [133703529, 133703579], [133767767, 133767892], [133777693, 133777786], [133782251, 133782318], [133783472, 133783615], [133783758, 133783902], [133785916, 133785996], [133789703, 133789869], [133802600, 133802737], [133804169, 133804253], [133827243, 133827333], [133833858, 133833917], [133834015, 133834176], [133836458, 133836573], [133844193, 133844315], [133846291, 133846392], [133849862, 133853258]] [[133595918, 133595951], [133703529, 133703579], [133767767, 133767892], [133777693, 133777786], [133782251, 133782318], [133783472, 133783615], [133783758, 133783902], [133785916, 133785996], [133789703, 133789869], [133802600, 133802737], [133804169, 133804253], [133827243, 133827333], [133833858, 133833917], [133834015, 133834176], [133836458, 133836573], [133844193, 133844315], [133846291, 133846392], [133849862, 133849943]]
NM_004100 [[133562494, 133562887], [133595853, 133595951], [133703529, 133703579], [133767767, 133767892], [133769248, 133769317], [133777693, 133777786], [133782251, 133782318], [133783472, 133783615], [133783758, 133783902], [133785916, 133785996], [133789703, 133789869], [133802600, 133802737], [133804169, 133804253], [133827243, 133827333], [133833858, 133833917], [133834015, 133834176], [133836458, 133836573], [133844193, 133844315], [133846291, 133846392], [133849862, 133853258]] [[133595918, 133595951], [133703529, 133703579], [133767767, 133767892], [133769248, 133769317], [133777693, 133777786], [133782251, 133782318], [133783472, 133783615], [133783758, 133783902], [133785916, 133785996], [133789703, 133789869], [133802600, 133802737], [133804169, 133804253], [133827243, 133827333], [133833858, 133833917], [133834015, 133834176], [133836458, 133836573], [133844193, 133844315], [133846291, 133846392], [133849862, 133849943]]
NM_172105 [[133562494, 133562887], [133595853, 133595951], [133703529, 133703579], [133767767, 133767892], [133769248, 133769317], [133777693, 133777786], [133782251, 133782318], [133783472, 133783615], [133783758, 133783902], [133785916, 133785996], [133789703, 133789869], [133802600, 133802737], [133804169, 133804253], [133827243, 133827333], [133833858, 133833917], [133834015, 133834176], [133836458, 133836573], [133844193, 133844315], [133846152, 133846253], [133849862, 133853258]] [[133595918, 133595951], [133703529, 133703579], [133767767, 133767892], [133769248, 133769317], [133777693, 133777786], [133782251, 133782318], [133783472, 133783615], [133783758, 133783902], [133785916, 133785996], [133789703, 133789869], [133802600, 133802737], [133804169, 133804253], [133827243, 133827333], [133833858, 133833917], [133834015, 133834176], [133836458, 133836573], [133844193, 133844315], [133846152, 133846253], [133849862, 133849943]]
NM_001301012 [[133562636, 133562887], [133595853, 133595951], [133703529, 133703579], [133767767, 133767892], [133782251, 133782318], [133783472, 133783615], [133783758, 133783902], [133785916, 133785996], [133789703, 133789869], [133802600, 133802737], [133804169, 133804253], [133827243, 133827333], [133833858, 133833917], [133834015, 133834176], [133836458, 133836573], [133844193, 133844315], [133846152, 133846253], [133849862, 133853258]] [[133595918, 133595951], [133703529, 133703579], [133767767, 133767892], [133782251, 133782318], [133783472, 133783615], [133783758, 133783902], [133785916, 133785996], [133789703, 133789869], [133802600, 133802737], [133804169, 133804253], [133827243, 133827333], [133833858, 133833917], [133834015, 133834176], [133836458, 133836573], [133844193, 133844315], [133846152, 133846253], [133849862, 133849943]]
NM_001301013 [[133562636, 133562887], [133595853, 133595951], [133703529, 133703579], [133767767, 133767892], [133769248, 133769317], [133777693, 133777786], [133782251, 133782318], [133783472, 133783615], [133783758, 133783902], [133785916, 133785996], [133789703, 133789887], [133802600, 133802737], [133804169, 133804253], [133827243, 133827333], [133833858, 133833917], [133834015, 133834176], [133836458, 133836573], [133844193, 133844315], [133846291, 133846392], [133849862, 133853258]] [[133595918, 133595951], [133703529, 133703579], [133767767, 133767892], [133769248, 133769317], [133777693, 133777786], [133782251, 133782318], [133783472, 133783615], [133783758, 133783902], [133785916, 133785996], [133789703, 133789887], [133802600, 133802737], [133804169, 133804253], [133827243, 133827333], [133833858, 133833917], [133834015, 133834176], [133836458, 133836573], [133844193, 133844315], [133846291, 133846392], [133849862, 133849943]]
Promoter
Chrom Start End Description
chr6 133561725 133561741 CAGE_peak_7_at_EYA4_5end
chr6 133561913 133561936 CAGE_peak_5_at_EYA4_5end
chr6 133562424 133562450 CAGE_peak_2_at_EYA4_5end
chr6 133562472 133562530 CAGE_peak_1_at_EYA4_5end
chr6 133562704 133562733 CAGE_peak_3_at_EYA4_5end
chr6 133562744 133562760 CAGE_peak_4_at_EYA4_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I133341 133341077 133342272 0.89 [{'connected_gene': 'SNORA33', 'score': 10.85}, {'connected_gene': 'EYA4', 'score': 5.58}, {'connected_gene': 'GC06P133368', 'score': 0.31}, {'connected_gene': 'PIR44354', 'score': 0.19}, {'connected_gene': 'GC06P133271', 'score': 0.19}, {'connected_gene': 'GC06P133270', 'score': 0.19}, {'connected_gene': 'GC06P133272', 'score': 0.19}]
chr6 GH06I133061 133061640 133063672 0.8 [{'connected_gene': 'EYA4', 'score': 10.17}, {'connected_gene': 'GC06P133042', 'score': 0.34}, {'connected_gene': 'LINC00326', 'score': 0.31}]
chr6 GH06I133518 133518045 133518161 0.22 [{'connected_gene': 'EYA4', 'score': 7.1}, {'connected_gene': 'HSPE1P21', 'score': 0.44}, {'connected_gene': 'ENSG00000272428', 'score': 0.34}, {'connected_gene': 'TARID', 'score': 0.05}]
chr6 GH06I132963 132963601 132965441 0.98 [{'connected_gene': 'EYA4', 'score': 5.58}, {'connected_gene': 'LOC105378008', 'score': 0.31}, {'connected_gene': 'RPL23AP46', 'score': 0.29}]
chr6 GH06I133240 133240376 133245823 2.12 [{'connected_gene': 'EYA4', 'score': 556.44}, {'connected_gene': 'TARID', 'score': 6.29}, {'connected_gene': 'ENSG00000272428', 'score': 6.2}, {'connected_gene': 'MOXD1', 'score': 4.63}, {'connected_gene': 'PIR44354', 'score': 0.31}, {'connected_gene': 'GC06P133271', 'score': 0.31}, {'connected_gene': 'GC06P133270', 'score': 0.31}, {'connected_gene': 'GC06P133272', 'score': 0.31}]
chr6 GH06I133396 133396023 133397211 0.38 [{'connected_gene': 'EYA4', 'score': 6.88}, {'connected_gene': 'TARID', 'score': 4.31}, {'connected_gene': 'GC06P133368', 'score': 0.31}, {'connected_gene': 'ENSG00000223542', 'score': 0.26}]
chr6 GH06I133252 133252757 133256198 0.67 [{'connected_gene': 'EYA4', 'score': 7.63}, {'connected_gene': 'TARID', 'score': 6.39}, {'connected_gene': 'PIR44354', 'score': 0.37}, {'connected_gene': 'GC06P133271', 'score': 0.37}, {'connected_gene': 'GC06P133270', 'score': 0.37}, {'connected_gene': 'GC06P133272', 'score': 0.37}]
chr6 GH06I133248 133248163 133249729 1.1 [{'connected_gene': 'EYA4', 'score': 6.44}, {'connected_gene': 'PIR44354', 'score': 0.34}, {'connected_gene': 'GC06P133271', 'score': 0.34}, {'connected_gene': 'GC06P133270', 'score': 0.34}, {'connected_gene': 'GC06P133272', 'score': 0.34}]
chr6 GH06I133272 133272803 133273012 0.7 [{'connected_gene': 'EYA4', 'score': 550.29}, {'connected_gene': 'PIR44354', 'score': 0.77}, {'connected_gene': 'GC06P133271', 'score': 0.77}, {'connected_gene': 'GC06P133270', 'score': 0.77}, {'connected_gene': 'GC06P133272', 'score': 0.77}, {'connected_gene': 'GC06P133368', 'score': 0.15}]
chr6 GH06I133208 133208218 133209027 0.38 [{'connected_gene': 'EYA4', 'score': 17.45}, {'connected_gene': 'GC06P133154', 'score': 0.22}]
chr6 GH06I133236 133236983 133237132 0.62 [{'connected_gene': 'EYA4', 'score': 0.77}, {'connected_gene': 'GC06P133154', 'score': 0.17}]
chr6 GH06I133501 133501777 133504413 0.79 [{'connected_gene': 'HSPE1P21', 'score': 0.44}, {'connected_gene': 'ENSG00000234567', 'score': 0.25}, {'connected_gene': 'EYA4', 'score': 0.07}, {'connected_gene': 'TARID', 'score': 0.05}]
chr6 GH06I133431 133431923 133432949 0.57 [{'connected_gene': 'ENSG00000234567', 'score': 12.32}, {'connected_gene': 'EYA4', 'score': 12.06}, {'connected_gene': 'ENSG00000223542', 'score': 0.44}, {'connected_gene': 'GC06P133368', 'score': 0.21}]
chr6 GH06I133434 133434743 133435981 0.64 [{'connected_gene': 'ENSG00000234567', 'score': 17.85}, {'connected_gene': 'EYA4', 'score': 12.06}, {'connected_gene': 'ENSG00000223542', 'score': 6.19}, {'connected_gene': 'GC06P133368', 'score': 0.2}]
chr6 GH06I133410 133410641 133410967 0.38 [{'connected_gene': 'ENSG00000223542', 'score': 0.31}, {'connected_gene': 'GC06P133368', 'score': 0.26}, {'connected_gene': 'EYA4', 'score': 0.09}]
chr6 GH06I133397 133397423 133397535 0.2 [{'connected_gene': 'GC06P133368', 'score': 0.31}, {'connected_gene': 'ENSG00000223542', 'score': 0.26}, {'connected_gene': 'EYA4', 'score': 0.1}]
chr6 GH06I133466 133466700 133466977 0.45 [{'connected_gene': 'ENSG00000223542', 'score': 4.79}, {'connected_gene': 'ENSG00000234567', 'score': 0.39}, {'connected_gene': 'HSPE1P21', 'score': 0.26}, {'connected_gene': 'EYA4', 'score': 0.07}]

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