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
ENST00000554371 [[100704634, 100705127], [100705540, 100705683]] [[100705581, 100705683]]
ENST00000262238 [[100705321, 100706260], [100728640, 100728803], [100741034, 100741095], [100742826, 100742985], [100743754, 100749129]] [[100705581, 100706260], [100728640, 100728803], [100741034, 100741095], [100742826, 100742985], [100743754, 100743937]]
ENST00000553625 [[100706090, 100706260], [100728640, 100728803], [100742826, 100742915]] [[100706090, 100706260], [100728640, 100728803], [100742826, 100742863]]
ENST00000554804 [[100706095, 100706260], [100728640, 100728803], [100741034, 100741095], [100743754, 100744479]] [[100706095, 100706260], [100728640, 100728803], [100741034, 100741095], [100743754, 100743937]]
ENST00000554579 [[100742535, 100742985], [100743754, 100744130]] None
NM_003403 [[100705101, 100706260], [100728640, 100728803], [100741034, 100741095], [100742826, 100742985], [100743754, 100745371]] [[100705581, 100706260], [100728640, 100728803], [100741034, 100741095], [100742826, 100742985], [100743754, 100743937]]
Promoter
Chrom Start End Description
chr14 100705140 100705188 CAGE_peak_2_at_YY1_5end
chr14 100705200 100705237 CAGE_peak_3_at_YY1_5end
chr14 100705335 100705360 CAGE_peak_4_at_YY1_5end
chr14 100705458 100705529 CAGE_peak_1_at_YY1_5end
chr14 100705587 100705600 CAGE_peak_5_at_YY1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I100213 100213132 100216238 1.41 [{'connected_gene': 'CCNK', 'score': 10.04}, {'connected_gene': 'SLC25A29', 'score': 5.42}, {'connected_gene': 'EVL', 'score': 4.51}, {'connected_gene': 'GC14M100190', 'score': 0.34}, {'connected_gene': 'ENSG00000258982', 'score': 0.34}, {'connected_gene': 'YY1', 'score': 0.34}]
chr14 GH14I100236 100236573 100242361 2.25 [{'connected_gene': 'YY1', 'score': 560.66}, {'connected_gene': 'ENSG00000258982', 'score': 550.77}, {'connected_gene': 'GC14P100239', 'score': 550.77}, {'connected_gene': 'CCNK', 'score': 24.33}, {'connected_gene': 'ENSG00000247970', 'score': 12.41}, {'connected_gene': 'WDR25', 'score': 10.51}, {'connected_gene': 'SLC25A29', 'score': 7.35}, {'connected_gene': 'ENSG00000258904', 'score': 0.34}]
chr14 GH14I100271 100271324 100271513 0.72 [{'connected_gene': 'YY1', 'score': 11.36}, {'connected_gene': 'WDR25', 'score': 10.66}, {'connected_gene': 'WARS', 'score': 10.65}, {'connected_gene': 'DEGS2', 'score': 9.61}, {'connected_gene': 'MIR342', 'score': 9.34}, {'connected_gene': 'GC14P100275', 'score': 0.77}, {'connected_gene': 'ENSG00000258904', 'score': 0.44}]
chr14 GH14I099550 99550362 99556407 1.18 [{'connected_gene': 'YY1', 'score': 12.28}, {'connected_gene': 'WDR25', 'score': 10.5}, {'connected_gene': 'CCDC85C', 'score': 10.12}, {'connected_gene': 'GC14M099518', 'score': 0.37}, {'connected_gene': 'GC14P099584', 'score': 0.31}]
chr14 GH14I100283 100283044 100283193 0.38 [{'connected_gene': 'YY1', 'score': 11.27}, {'connected_gene': 'WARS', 'score': 10.79}, {'connected_gene': 'WDR25', 'score': 10.79}, {'connected_gene': 'GC14P100279', 'score': 0.77}, {'connected_gene': 'PIR46113', 'score': 0.77}, {'connected_gene': 'ENSG00000259052', 'score': 0.44}, {'connected_gene': 'SLC25A29', 'score': 0.34}]
chr14 GH14I100282 100282824 100282973 0.2 [{'connected_gene': 'YY1', 'score': 11.27}, {'connected_gene': 'WARS', 'score': 10.79}, {'connected_gene': 'WDR25', 'score': 10.79}, {'connected_gene': 'GC14P100279', 'score': 0.77}, {'connected_gene': 'PIR46113', 'score': 0.77}, {'connected_gene': 'ENSG00000259052', 'score': 0.44}, {'connected_gene': 'SLC25A29', 'score': 0.34}]
chr14 GH14I100371 100371656 100378153 2.31 [{'connected_gene': 'WARS', 'score': 583.92}, {'connected_gene': 'WDR25', 'score': 573.89}, {'connected_gene': 'SLC25A29', 'score': 15.46}, {'connected_gene': 'CCNK', 'score': 12.55}, {'connected_gene': 'MEG9', 'score': 12.25}, {'connected_gene': 'YY1', 'score': 11.3}, {'connected_gene': 'GC14P100385', 'score': 0.44}]
chr14 GH14I099255 99255435 99275204 3.18 [{'connected_gene': 'BCL11B', 'score': 576.06}, {'connected_gene': 'RPL3P4', 'score': 22.09}, {'connected_gene': 'CCNK', 'score': 20.19}, {'connected_gene': 'ENSG00000234648', 'score': 18.65}, {'connected_gene': 'YY1', 'score': 9.95}, {'connected_gene': 'ENSG00000235785', 'score': 0.77}]
chr14 GH14I100062 100062610 100077824 2.73 [{'connected_gene': 'EVL', 'score': 564.89}, {'connected_gene': 'MIR342', 'score': 12.35}, {'connected_gene': 'DEGS2', 'score': 10.77}, {'connected_gene': 'VDAC3P1', 'score': 4.97}, {'connected_gene': 'WARS', 'score': 2.81}, {'connected_gene': 'YY1', 'score': 1.19}, {'connected_gene': 'ENSG00000258560', 'score': 0.77}, {'connected_gene': 'GC14M100046', 'score': 0.37}]
chr14 GH14I100078 100078116 100085530 1.42 [{'connected_gene': 'MIR342', 'score': 12.8}, {'connected_gene': 'EVL', 'score': 10.67}, {'connected_gene': 'NDUFB3P4', 'score': 5.11}, {'connected_gene': 'YY1', 'score': 1.39}, {'connected_gene': 'ENSG00000258560', 'score': 0.44}, {'connected_gene': 'GC14P100099', 'score': 0.37}]
chr14 GH14I100165 100165085 100167600 1.46 [{'connected_gene': 'DEGS2', 'score': 550.77}, {'connected_gene': 'GC14M100159', 'score': 550.77}, {'connected_gene': 'CCNK', 'score': 13.59}, {'connected_gene': 'YY1', 'score': 9.82}, {'connected_gene': 'DLK1', 'score': 5.79}, {'connected_gene': 'SLC25A29', 'score': 5.22}]
chr14 GH14I100121 100121573 100123356 0.66 [{'connected_gene': 'DEGS2', 'score': 11.77}, {'connected_gene': 'YY1', 'score': 10.58}, {'connected_gene': 'MIR770', 'score': 5.06}, {'connected_gene': 'GC14M100124', 'score': 0.77}, {'connected_gene': 'PIR51478', 'score': 0.44}, {'connected_gene': 'EVL', 'score': 0.1}]
chr14 GH14I100217 100217935 100218591 0.38 [{'connected_gene': 'DEGS2', 'score': 10.7}, {'connected_gene': 'GC14M100190', 'score': 0.34}, {'connected_gene': 'ENSG00000258982', 'score': 0.34}, {'connected_gene': 'YY1', 'score': 0.34}]
chr14 GH14I100231 100231953 100232920 0.58 [{'connected_gene': 'DEGS2', 'score': 10.31}, {'connected_gene': 'MIR342', 'score': 9.73}, {'connected_gene': 'SLC25A47', 'score': 9.4}, {'connected_gene': 'ENSG00000258982', 'score': 0.44}, {'connected_gene': 'YY1', 'score': 0.44}, {'connected_gene': 'GC14M100190', 'score': 0.28}]
chr14 GH14I100234 100234194 100235563 0.38 [{'connected_gene': 'DEGS2', 'score': 10.31}, {'connected_gene': 'MIR342', 'score': 9.73}, {'connected_gene': 'SLC25A47', 'score': 9.4}, {'connected_gene': 'SLC25A29', 'score': 8.08}, {'connected_gene': 'ENSG00000258982', 'score': 0.77}, {'connected_gene': 'YY1', 'score': 0.77}, {'connected_gene': 'GC14M100190', 'score': 0.26}]
chr14 GH14I100220 100220477 100225067 1.35 [{'connected_gene': 'DEGS2', 'score': 10.69}, {'connected_gene': 'SLC25A29', 'score': 8.23}, {'connected_gene': 'ENSG00000258982', 'score': 0.37}, {'connected_gene': 'YY1', 'score': 0.37}, {'connected_gene': 'GC14M100190', 'score': 0.31}]
chr14 GH14I100266 100266070 100269012 0.46 [{'connected_gene': 'SLC25A29', 'score': 18.83}, {'connected_gene': 'YY1', 'score': 11.56}, {'connected_gene': 'MIR345', 'score': 11.01}, {'connected_gene': 'SLC25A47', 'score': 10.75}, {'connected_gene': 'WARS', 'score': 10.65}, {'connected_gene': 'WDR25', 'score': 10.65}, {'connected_gene': 'DEGS2', 'score': 9.61}, {'connected_gene': 'MIR342', 'score': 9.34}, {'connected_gene': 'ENSG00000258904', 'score': 0.77}, {'connected_gene': 'GC14P100275', 'score': 0.44}]
chr14 GH14I100249 100249643 100250556 0.31 [{'connected_gene': 'SLC25A29', 'score': 7.66}, {'connected_gene': 'ENSG00000258904', 'score': 0.39}, {'connected_gene': 'GC14P100239', 'score': 0.39}, {'connected_gene': 'YY1', 'score': 0.39}]
chr14 GH14I100203 100203361 100205791 1.33 [{'connected_gene': 'SLC25A29', 'score': 5.85}, {'connected_gene': 'GC14M100190', 'score': 0.39}, {'connected_gene': 'YY1', 'score': 0.29}]
chr14 GH14I100242 100242602 100243000 0.69 [{'connected_gene': 'SLC25A29', 'score': 6.3}, {'connected_gene': 'GC14P100239', 'score': 0.77}, {'connected_gene': 'YY1', 'score': 0.77}, {'connected_gene': 'ENSG00000258904', 'score': 0.34}]
chr14 GH14I100245 100245276 100247883 1.24 [{'connected_gene': 'SLC25A29', 'score': 7.66}, {'connected_gene': 'GC14P100239', 'score': 0.44}, {'connected_gene': 'YY1', 'score': 0.44}, {'connected_gene': 'ENSG00000258904', 'score': 0.37}]
chr14 GH14I100244 100244644 100244793 0.63 [{'connected_gene': 'SLC25A29', 'score': 5.05}, {'connected_gene': 'GC14P100239', 'score': 0.44}, {'connected_gene': 'YY1', 'score': 0.44}, {'connected_gene': 'ENSG00000258904', 'score': 0.37}]
chr14 GH14I100255 100255898 100257233 0.86 [{'connected_gene': 'SLC25A29', 'score': 7.17}, {'connected_gene': 'ENSG00000258904', 'score': 0.44}, {'connected_gene': 'GC14P100239', 'score': 0.37}, {'connected_gene': 'YY1', 'score': 0.37}]
chr14 GH14I100257 100257383 100259450 0.31 [{'connected_gene': 'SLC25A29', 'score': 7.68}, {'connected_gene': 'ENSG00000258904', 'score': 0.44}, {'connected_gene': 'GC14P100239', 'score': 0.37}, {'connected_gene': 'YY1', 'score': 0.34}]
chr14 GH14I100251 100251201 100251600 0.51 [{'connected_gene': 'SLC25A29', 'score': 7.25}, {'connected_gene': 'ENSG00000258904', 'score': 0.39}, {'connected_gene': 'GC14P100239', 'score': 0.39}, {'connected_gene': 'YY1', 'score': 0.39}]
chr14 GH14I100304 100304304 100307908 2.15 [{'connected_gene': 'SLC25A29', 'score': 570.23}, {'connected_gene': 'GC14P100308', 'score': 550.77}, {'connected_gene': 'MIR345', 'score': 550.77}, {'connected_gene': 'CCNK', 'score': 13.59}, {'connected_gene': 'YY1', 'score': 10.09}, {'connected_gene': 'MEG3', 'score': 4.42}, {'connected_gene': 'ENSG00000259052', 'score': 0.39}]
chr14 GH14I100281 100281267 100282125 0.31 [{'connected_gene': 'SLC25A29', 'score': 12.19}, {'connected_gene': 'MIR345', 'score': 12.16}, {'connected_gene': 'WDR25', 'score': 10.86}, {'connected_gene': 'WARS', 'score': 10.86}, {'connected_gene': 'SLC25A47', 'score': 10.41}, {'connected_gene': 'MIR342', 'score': 9.6}, {'connected_gene': 'GC14P100279', 'score': 0.77}, {'connected_gene': 'ENSG00000259052', 'score': 0.44}, {'connected_gene': 'PIR46113', 'score': 0.44}, {'connected_gene': 'YY1', 'score': 0.26}]
chr14 GH14I100273 100273479 100277337 0.46 [{'connected_gene': 'MIR6764', 'score': 550.77}, {'connected_gene': 'GC14P100275', 'score': 550.77}, {'connected_gene': 'SLC25A29', 'score': 20.23}, {'connected_gene': 'MIR345', 'score': 12.14}, {'connected_gene': 'YY1', 'score': 11.34}, {'connected_gene': 'WARS', 'score': 10.85}, {'connected_gene': 'WDR25', 'score': 10.85}, {'connected_gene': 'SLC25A47', 'score': 10.71}, {'connected_gene': 'DEGS2', 'score': 9.61}, {'connected_gene': 'MIR342', 'score': 9.61}, {'connected_gene': 'ENSG00000258904', 'score': 0.39}]
chr14 GH14I100192 100192151 100194017 1.82 [{'connected_gene': 'GC14M100190', 'score': 550.77}, {'connected_gene': 'GC14M100192', 'score': 550.77}, {'connected_gene': 'GC14M100193', 'score': 550.77}, {'connected_gene': 'CCNK', 'score': 16.62}, {'connected_gene': 'DEGS2', 'score': 13.02}, {'connected_gene': 'YY1', 'score': 12.19}, {'connected_gene': 'MIR342', 'score': 10.92}, {'connected_gene': 'ENSG00000258666', 'score': 9.9}, {'connected_gene': 'EVL', 'score': 6.01}, {'connected_gene': 'SLC25A29', 'score': 5.71}, {'connected_gene': 'NDUFB3P4', 'score': 4.82}]
chr14 GH14I100819 100819857 100833214 1.97 [{'connected_gene': 'ENSG00000274884', 'score': 550.77}, {'connected_gene': 'DLK1', 'score': 16.86}, {'connected_gene': 'MEG3', 'score': 11.26}, {'connected_gene': 'MIR493', 'score': 10.72}, {'connected_gene': 'MIR337', 'score': 10.71}, {'connected_gene': 'MIR431', 'score': 10.69}, {'connected_gene': 'MIR433', 'score': 10.68}, {'connected_gene': 'MIR136', 'score': 10.68}, {'connected_gene': 'RTL1', 'score': 10.68}, {'connected_gene': 'MIR127', 'score': 10.68}, {'connected_gene': 'SNORD112', 'score': 9.91}, {'connected_gene': 'MIR370', 'score': 9.89}, {'connected_gene': 'YY1', 'score': 6.18}, {'connected_gene': 'ENSG00000276919', 'score': 0.77}]
chr14 GH14I100675 100675747 100683109 1.68 [{'connected_gene': 'ENSG00000258717', 'score': 550.77}, {'connected_gene': 'YY1', 'score': 11.42}, {'connected_gene': 'DLK1', 'score': 6.26}, {'connected_gene': 'BEGAIN', 'score': 5.65}, {'connected_gene': 'LOC105370667', 'score': 0.39}, {'connected_gene': 'LINC00523', 'score': 0.34}]
chr14 GH14I100252 100252801 100253000 0.31 [{'connected_gene': 'ENSG00000258904', 'score': 0.39}, {'connected_gene': 'GC14P100239', 'score': 0.39}, {'connected_gene': 'YY1', 'score': 0.39}]
chr14 GH14I100263 100263047 100263853 0.58 [{'connected_gene': 'ENSG00000258904', 'score': 550.77}, {'connected_gene': 'GC14P100239', 'score': 0.34}, {'connected_gene': 'YY1', 'score': 0.31}]
chr14 GH14I099976 99976288 99977244 0.7 [{'connected_gene': 'ENSG00000258693', 'score': 550.77}, {'connected_gene': 'RPS2P3', 'score': 550.77}, {'connected_gene': 'YY1', 'score': 18.79}, {'connected_gene': 'CCNK', 'score': 13.6}, {'connected_gene': 'MEG3', 'score': 10.19}, {'connected_gene': 'ENSG00000247970', 'score': 10.17}, {'connected_gene': 'WDR25', 'score': 10.01}, {'connected_gene': 'HHIPL1', 'score': 10.01}, {'connected_gene': 'EVL', 'score': 0.44}]
chr14 GH14I100279 100278645 100279533 0.79 [{'connected_gene': 'GC14P100279', 'score': 550.77}, {'connected_gene': 'MIR6764', 'score': 550.77}, {'connected_gene': 'MIR345', 'score': 12.16}, {'connected_gene': 'SLC25A29', 'score': 12.16}, {'connected_gene': 'WARS', 'score': 10.86}, {'connected_gene': 'WDR25', 'score': 10.86}, {'connected_gene': 'SLC25A47', 'score': 10.41}, {'connected_gene': 'MIR342', 'score': 9.61}, {'connected_gene': 'GC14P100275', 'score': 0.77}, {'connected_gene': 'YY1', 'score': 0.26}]
chr14 GH14I100278 100278041 100278310 0.6 [{'connected_gene': 'GC14P100279', 'score': 550.77}, {'connected_gene': 'MIR6764', 'score': 550.77}, {'connected_gene': 'MIR345', 'score': 12.16}, {'connected_gene': 'SLC25A29', 'score': 12.16}, {'connected_gene': 'WARS', 'score': 10.86}, {'connected_gene': 'WDR25', 'score': 10.86}, {'connected_gene': 'SLC25A47', 'score': 10.39}, {'connected_gene': 'MIR342', 'score': 9.61}, {'connected_gene': 'GC14P100275', 'score': 0.77}, {'connected_gene': 'YY1', 'score': 0.28}]

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