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
ENST00000557165 [[99947505, 99947579], [99947674, 99947816], [99958962, 99959211], [99959850, 99959932], [99961834, 99961966], [99967102, 99967208], [99968543, 99968713]] None
ENST00000389879 [[99947745, 99947816], [99958962, 99959211], [99959850, 99959932], [99961834, 99961966], [99967102, 99967208], [99967692, 99967750], [99968543, 99968713], [99969055, 99969321], [99969947, 99969981], [99973412, 99973484], [99976493, 99978777]] [[99959014, 99959211], [99959850, 99959932], [99961834, 99961966], [99967102, 99967208], [99967692, 99967750], [99968543, 99968713], [99969055, 99969321], [99969947, 99969981], [99973412, 99973484], [99976493, 99977119]]
ENST00000553636 [[99947748, 99947816], [99958962, 99959440]] None
ENST00000557441 [[99947748, 99947951], [99958962, 99959211], [99959850, 99959932], [99961834, 99961966], [99967102, 99967208], [99967692, 99967750], [99968543, 99968649]] [[99959014, 99959211], [99959850, 99959932], [99961834, 99961966], [99967102, 99967208], [99967692, 99967750], [99968543, 99968649]]
ENST00000555049 [[99947760, 99947816], [99958962, 99959211], [99959850, 99959932], [99961834, 99961966], [99967102, 99967208], [99967692, 99967750], [99968543, 99968713], [99969055, 99969321], [99969947, 99969981], [99973412, 99973484], [100001000, 100001381]] [[99959014, 99959211], [99959850, 99959932], [99961834, 99961966], [99967102, 99967208], [99967692, 99967750], [99968543, 99968713], [99969055, 99969321], [99969947, 99969981], [99973412, 99973484], [100001000, 100001020]]
ENST00000555842 [[99947761, 99947816], [99958282, 99958657], [99958962, 99959211], [99959850, 99959932], [99961834, 99961884]] [[99959014, 99959211], [99959850, 99959932], [99961834, 99961884]]
ENST00000556641 [[99947786, 99947816], [99958962, 99959211], [99959850, 99959932], [99961834, 99961966], [99967102, 99967356]] None
ENST00000555942 [[99959850, 99959932], [99961841, 99961965]] None
ENST00000553865 [[99960306, 99961966], [99967102, 99968713], [99969055, 99969981], [99973412, 99973484], [99976493, 99977851]] None
NM_001099402 [[99947738, 99947816], [99958962, 99959211], [99959850, 99959932], [99961834, 99961966], [99967102, 99967208], [99967692, 99967750], [99968543, 99968713], [99969055, 99969321], [99969947, 99969981], [99973412, 99973484], [99976493, 99977852]] [[99959014, 99959211], [99959850, 99959932], [99961834, 99961966], [99967102, 99967208], [99967692, 99967750], [99968543, 99968713], [99969055, 99969321], [99969947, 99969981], [99973412, 99973484], [99976493, 99977119]]
Promoter
Chrom Start End Description
chr14 99947484 99947495 CAGE_peak_19_at_CCNK_5end
chr14 99947502 99947509 CAGE_peak_22_at_CCNK_5end
chr14 99947510 99947527 CAGE_peak_12_at_CCNK_5end
chr14 99947715 99947791 CAGE_peak_1_at_CCNK_5end
chr14 99959842 99959857 CAGE_peak_3_at_CCNK_5end
chr14 99968668 99968684 CAGE_peak_5_at_CCNK_5end
chr14 99969078 99969151 CAGE_peak_2_at_CCNK_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I099462 99462391 99462493 0.2 [{'connected_gene': 'CCNK', 'score': 0.37}, {'connected_gene': 'SETD3', 'score': 0.37}, {'connected_gene': 'RNU6-91P', 'score': 0.37}]
chr14 GH14I099467 99467524 99467673 0.43 [{'connected_gene': 'CCNK', 'score': 0.39}, {'connected_gene': 'SETD3', 'score': 0.39}, {'connected_gene': 'RNU6-91P', 'score': 0.34}]
chr14 GH14I099477 99475784 99475933 0.63 [{'connected_gene': 'CCNK', 'score': 0.44}, {'connected_gene': 'SETD3', 'score': 0.44}, {'connected_gene': 'RNU6-91P', 'score': 0.29}]
chr14 GH14I099459 99459838 99461613 0.66 [{'connected_gene': 'CCNK', 'score': 11.39}, {'connected_gene': 'SETD3', 'score': 11.39}, {'connected_gene': 'RNU6-91P', 'score': 0.37}]
chr14 GH14I099476 99476872 99477599 0.38 [{'connected_gene': 'CCNK', 'score': 0.77}, {'connected_gene': 'SETD3', 'score': 0.77}, {'connected_gene': 'RNU6-91P', 'score': 0.29}]
chr14 GH14I099479 99478002 99478798 0.46 [{'connected_gene': 'CCNK', 'score': 0.77}, {'connected_gene': 'SETD3', 'score': 0.77}, {'connected_gene': 'RNU6-91P', 'score': 0.29}]
chr14 GH14I099478 99478910 99482782 2.06 [{'connected_gene': 'CCNK', 'score': 575.05}, {'connected_gene': 'SETD3', 'score': 556.94}, {'connected_gene': 'RNU6-91P', 'score': 0.28}]
chr14 GH14I099427 99427784 99427953 0.2 [{'connected_gene': 'CCNK', 'score': 10.64}, {'connected_gene': 'SETD3', 'score': 10.64}, {'connected_gene': 'GC14P099446', 'score': 0.37}, {'connected_gene': 'ENSG00000258383', 'score': 0.15}]
chr14 GH14I099394 99394369 99395318 0.2 [{'connected_gene': 'CCNK', 'score': 5.51}, {'connected_gene': 'SETD3', 'score': 5.36}, {'connected_gene': 'GC14P099446', 'score': 0.25}, {'connected_gene': 'ENSG00000258383', 'score': 0.21}]
chr14 GH14I099415 99415600 99416001 0.88 [{'connected_gene': 'CCNK', 'score': 10.17}, {'connected_gene': 'SETD3', 'score': 10.17}, {'connected_gene': 'GC14P099446', 'score': 0.31}, {'connected_gene': 'ENSG00000258383', 'score': 0.18}]
chr14 GH14I099411 99411724 99413949 0.6 [{'connected_gene': 'CCNK', 'score': 14.82}, {'connected_gene': 'SETD3', 'score': 9.99}, {'connected_gene': 'GC14P099446', 'score': 0.29}, {'connected_gene': 'ENSG00000258383', 'score': 0.18}]
chr14 GH14I099430 99430584 99430713 0.54 [{'connected_gene': 'CCNK', 'score': 10.48}, {'connected_gene': 'SETD3', 'score': 10.48}, {'connected_gene': 'GC14P099446', 'score': 0.39}, {'connected_gene': 'ENSG00000258383', 'score': 0.15}]
chr14 GH14I099484 99484466 99484525 0.61 [{'connected_gene': 'CCNK', 'score': 550.77}, {'connected_gene': 'SETD3', 'score': 0.77}, {'connected_gene': 'GC14M099501', 'score': 0.37}]
chr14 GH14I099225 99225561 99237000 1.92 [{'connected_gene': 'CCNK', 'score': 24.24}, {'connected_gene': 'BCL11B', 'score': 12.6}, {'connected_gene': 'ENSG00000234648', 'score': 12.2}, {'connected_gene': 'RPL3P4', 'score': 10.96}, {'connected_gene': 'SETD3', 'score': 4.44}, {'connected_gene': 'GC14M099236', 'score': 0.44}, {'connected_gene': 'GC14M099237', 'score': 0.44}, {'connected_gene': 'GC14P099215', 'score': 0.37}]
chr14 GH14I100470 100470779 100474113 1.05 [{'connected_gene': 'CCNK', 'score': 16.62}, {'connected_gene': 'BEGAIN', 'score': 10.75}, {'connected_gene': 'WARS', 'score': 10.22}, {'connected_gene': 'WDR25', 'score': 10.22}, {'connected_gene': 'ENSG00000258666', 'score': 9.91}, {'connected_gene': 'NDUFB3P4', 'score': 6.1}, {'connected_gene': 'HMGN1P25', 'score': 0.44}, {'connected_gene': 'GC14M100431', 'score': 0.2}, {'connected_gene': 'LOC105370664', 'score': 0.2}]
chr14 GH14I100011 100011324 100013683 0.96 [{'connected_gene': 'CCNK', 'score': 10.76}, {'connected_gene': 'VDAC3P1', 'score': 5.44}, {'connected_gene': 'GC14P100004', 'score': 0.44}, {'connected_gene': 'GC14M100036', 'score': 0.31}, {'connected_gene': 'EVL', 'score': 0.26}]
chr14 GH14I099539 99539908 99543012 0.74 [{'connected_gene': 'CCNK', 'score': 12.02}, {'connected_gene': 'CCDC85C', 'score': 9.16}, {'connected_gene': 'GC14M099518', 'score': 0.44}, {'connected_gene': 'GC14P099584', 'score': 0.26}]
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 GH14I099034 99034801 99038994 1.12 [{'connected_gene': 'CCNK', 'score': 2.61}, {'connected_gene': 'ENSG00000234648', 'score': 0.21}, {'connected_gene': 'LOC105370659', 'score': 0.15}]
chr14 GH14I099468 99468487 99470200 0.63 [{'connected_gene': 'SETD3', 'score': 6.43}, {'connected_gene': 'CCNK', 'score': 5.36}, {'connected_gene': 'RNU6-91P', 'score': 0.31}]
chr14 GH14I099475 99475083 99475749 1.39 [{'connected_gene': 'SETD3', 'score': 550.44}, {'connected_gene': 'CCNK', 'score': 0.44}, {'connected_gene': 'RNU6-91P', 'score': 0.29}]
chr14 GH14I099401 99401171 99401909 0.31 [{'connected_gene': 'SETD3', 'score': 15.49}, {'connected_gene': 'CCNK', 'score': 10.08}, {'connected_gene': 'GC14P099446', 'score': 0.26}, {'connected_gene': 'ENSG00000258383', 'score': 0.2}]
chr14 GH14I099435 99435818 99438147 0.66 [{'connected_gene': 'SETD3', 'score': 16.45}, {'connected_gene': 'CCNK', 'score': 15.64}, {'connected_gene': 'GC14P099446', 'score': 0.44}, {'connected_gene': 'ENSG00000258383', 'score': 0.15}]
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 GH14I100284 100284037 100286517 1.69 [{'connected_gene': 'WARS', 'score': 16.7}, {'connected_gene': 'CCNK', 'score': 12.55}, {'connected_gene': 'WDR25', 'score': 11.61}, {'connected_gene': 'SLC25A47', 'score': 11.19}, {'connected_gene': 'PIR46113', 'score': 0.77}, {'connected_gene': 'GC14P100279', 'score': 0.44}, {'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 GH14I100057 100057001 100061694 1.25 [{'connected_gene': 'MIR342', 'score': 12.09}, {'connected_gene': 'CCNK', 'score': 10.04}, {'connected_gene': 'EVL', 'score': 5.59}, {'connected_gene': 'ENSG00000247970', 'score': 4.7}, {'connected_gene': 'GC14M100046', 'score': 0.44}, {'connected_gene': 'ENSG00000258560', 'score': 0.37}]
chr14 GH14I099521 99521902 99523948 1.15 [{'connected_gene': 'RPL3P4', 'score': 11.0}, {'connected_gene': 'WDR25', 'score': 9.98}, {'connected_gene': 'CCNK', 'score': 5.63}, {'connected_gene': 'PIR34457', 'score': 0.44}, {'connected_gene': 'LOC105370661', 'score': 0.39}, {'connected_gene': 'GC14M099518', 'score': 0.39}, {'connected_gene': 'CCDC85C', 'score': 0.18}]
chr14 GH14I099560 99560023 99577989 2.14 [{'connected_gene': 'CCDC85C', 'score': 23.67}, {'connected_gene': 'CCNK', 'score': 14.59}, {'connected_gene': 'ENSG00000234648', 'score': 12.81}, {'connected_gene': 'ENSG00000247970', 'score': 12.0}, {'connected_gene': 'HHIPL1', 'score': 11.22}, {'connected_gene': 'RPL3P4', 'score': 11.18}, {'connected_gene': 'EML1', 'score': 10.12}, {'connected_gene': 'SETD3', 'score': 1.64}, {'connected_gene': 'GC14P099584', 'score': 0.39}, {'connected_gene': 'GC14M099518', 'score': 0.29}]
chr14 GH14I099594 99594642 99606693 2.73 [{'connected_gene': 'CCDC85C', 'score': 558.0}, {'connected_gene': 'HHIPL1', 'score': 14.29}, {'connected_gene': 'WDR25', 'score': 14.17}, {'connected_gene': 'CCNK', 'score': 12.65}, {'connected_gene': 'ENSG00000247970', 'score': 11.56}, {'connected_gene': 'BEGAIN', 'score': 9.75}, {'connected_gene': 'WARS', 'score': 4.64}, {'connected_gene': 'PIR41630', 'score': 0.77}]
chr14 GH14I099530 99530259 99532494 1.02 [{'connected_gene': 'CCDC85C', 'score': 7.75}, {'connected_gene': 'LOC105370661', 'score': 0.77}, {'connected_gene': 'GC14M099518', 'score': 0.77}, {'connected_gene': 'PIR34457', 'score': 0.39}, {'connected_gene': 'CCNK', 'score': 0.23}]
chr14 GH14I099469 99468153 99468171 0.26 [{'connected_gene': 'EML1', 'score': 1.44}, {'connected_gene': 'CCNK', 'score': 0.39}, {'connected_gene': 'SETD3', 'score': 0.39}, {'connected_gene': 'RNU6-91P', 'score': 0.34}]
chr14 GH14I099872 99872026 99873401 0.71 [{'connected_gene': 'EML1', 'score': 15.52}, {'connected_gene': 'CCNK', 'score': 14.47}, {'connected_gene': 'ENSG00000234648', 'score': 12.81}, {'connected_gene': 'RPL3P4', 'score': 11.18}, {'connected_gene': 'CYP46A1', 'score': 10.68}, {'connected_gene': 'GC14M099882', 'score': 0.39}, {'connected_gene': 'GC14M099754', 'score': 0.14}]
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 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 GH14I099531 99530218 99530253 0.51 [{'connected_gene': 'LOC105370661', 'score': 0.44}, {'connected_gene': 'GC14M099518', 'score': 0.44}, {'connected_gene': 'PIR34457', 'score': 0.39}, {'connected_gene': 'CCNK', 'score': 0.25}, {'connected_gene': 'CCDC85C', 'score': 0.19}]
chr14 GH14I099534 99534391 99535770 0.63 [{'connected_gene': 'LOC105370661', 'score': 550.77}, {'connected_gene': 'GC14M099518', 'score': 550.77}, {'connected_gene': 'PIR34457', 'score': 0.37}, {'connected_gene': 'CCNK', 'score': 0.23}, {'connected_gene': 'CCDC85C', 'score': 0.2}]
chr14 GH14I099502 99502357 99504315 0.58 [{'connected_gene': 'GC14M099501', 'score': 550.77}, {'connected_gene': 'CCNK', 'score': 11.29}, {'connected_gene': 'SETD3', 'score': 11.29}, {'connected_gene': 'ENSG00000247970', 'score': 10.61}, {'connected_gene': 'CCDC85C', 'score': 10.61}, {'connected_gene': 'ENSG00000258749', 'score': 0.44}]
chr14 GH14I099509 99509344 99509473 0.58 [{'connected_gene': 'ENSG00000258749', 'score': 0.77}, {'connected_gene': 'GC14M099501', 'score': 0.44}, {'connected_gene': 'CCNK', 'score': 0.31}, {'connected_gene': 'CCDC85C', 'score': 0.16}]
chr14 GH14I099510 99509004 99509113 0.8 [{'connected_gene': 'ENSG00000258749', 'score': 0.77}, {'connected_gene': 'GC14M099501', 'score': 0.44}, {'connected_gene': 'CCNK', 'score': 0.31}, {'connected_gene': 'CCDC85C', 'score': 0.15}]
chr14 GH14I099512 99511104 99512613 0.4 [{'connected_gene': 'ENSG00000258749', 'score': 550.77}, {'connected_gene': 'GC14M099501', 'score': 0.44}, {'connected_gene': 'CCNK', 'score': 0.29}, {'connected_gene': 'CCDC85C', 'score': 0.16}]
chr14 GH14I099511 99509571 99510306 0.38 [{'connected_gene': 'ENSG00000258749', 'score': 0.77}, {'connected_gene': 'GC14M099501', 'score': 0.44}, {'connected_gene': 'CCNK', 'score': 0.31}, {'connected_gene': 'CCDC85C', 'score': 0.16}]
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 GH14I099516 99516394 99517309 0.46 [{'connected_gene': 'PIR34457', 'score': 550.77}, {'connected_gene': 'SETD3', 'score': 5.57}, {'connected_gene': 'LOC105370661', 'score': 0.37}, {'connected_gene': 'CCNK', 'score': 0.28}, {'connected_gene': 'CCDC85C', 'score': 0.17}]
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 GH14I099519 99519828 99520340 0.49 [{'connected_gene': 'PIR34457', 'score': 0.77}, {'connected_gene': 'LOC105370661', 'score': 0.37}, {'connected_gene': 'GC14M099518', 'score': 0.37}, {'connected_gene': 'CCNK', 'score': 0.28}, {'connected_gene': 'CCDC85C', 'score': 0.18}]
chr14 GH14I099518 99518504 99518673 1.01 [{'connected_gene': 'PIR34457', 'score': 0.77}, {'connected_gene': 'LOC105370661', 'score': 0.37}, {'connected_gene': 'GC14M099518', 'score': 0.37}, {'connected_gene': 'CCNK', 'score': 0.28}, {'connected_gene': 'CCDC85C', 'score': 0.17}]
chr14 GH14I099524 99524324 99525515 1.15 [{'connected_gene': 'PIR34457', 'score': 0.44}, {'connected_gene': 'LOC105370661', 'score': 0.39}, {'connected_gene': 'GC14M099518', 'score': 0.39}, {'connected_gene': 'CCNK', 'score': 0.26}, {'connected_gene': 'CCDC85C', 'score': 0.18}]
chr14 GH14I099520 99520884 99521013 0.69 [{'connected_gene': 'PIR34457', 'score': 0.77}, {'connected_gene': 'LOC105370661', 'score': 0.37}, {'connected_gene': 'GC14M099518', 'score': 0.37}, {'connected_gene': 'CCNK', 'score': 0.28}, {'connected_gene': 'CCDC85C', 'score': 0.18}]