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
ENST00000429617 [[115438941, 115439108], [115457252, 115457362], [115480790, 115480927], [115481409, 115481538], [115485120, 115485296], [115486063, 115486178]] [[115457252, 115457362], [115480790, 115480927], [115481409, 115481538], [115485120, 115485296], [115486063, 115486178]]
ENST00000369331 [[115438962, 115439108], [115457252, 115457362], [115480790, 115480927], [115481409, 115481538], [115485120, 115485188], [115485575, 115485649], [115486063, 115486193], [115489069, 115490655]] [[115457252, 115457362], [115480790, 115480927], [115481409, 115481538], [115485120, 115485188], [115485575, 115485649], [115486063, 115486193], [115489069, 115489183]]
ENST00000369321 [[115439425, 115439737], [115451722, 115451829], [115457252, 115457362], [115480790, 115480927], [115481409, 115481538], [115485120, 115485296], [115486063, 115486193], [115489069, 115490662]] [[115451730, 115451829], [115457252, 115457362], [115480790, 115480927], [115481409, 115481538], [115485120, 115485296], [115486063, 115486193], [115489069, 115489299]]
ENST00000345633 [[115439427, 115439737], [115451755, 115451829], [115457252, 115457362], [115480790, 115480927], [115481409, 115481538], [115485120, 115485296], [115486063, 115486193], [115489069, 115490662]] [[115457252, 115457362], [115480790, 115480927], [115481409, 115481538], [115485120, 115485296], [115486063, 115486193], [115489069, 115489299]]
ENST00000369318 [[115439635, 115439737], [115457252, 115457362], [115480790, 115480927], [115481409, 115481538], [115485120, 115485296], [115486063, 115486193], [115489069, 115490662]] [[115457252, 115457362], [115480790, 115480927], [115481409, 115481538], [115485120, 115485296], [115486063, 115486193], [115489069, 115489299]]
ENST00000369315 [[115439698, 115439737], [115451722, 115451829], [115457252, 115457362], [115480790, 115480927], [115481409, 115481538], [115485120, 115485296], [115486063, 115486193], [115489069, 115490662]] [[115457252, 115457362], [115480790, 115480927], [115481409, 115481538], [115485120, 115485296], [115486063, 115486193], [115489069, 115489299]]
ENST00000452490 [[115469142, 115469205], [115480790, 115480927], [115481409, 115481538], [115485120, 115485296], [115486063, 115486193], [115489069, 115489582]] [[115469170, 115469205], [115480790, 115480927], [115481409, 115481538], [115485120, 115485296], [115486063, 115486193], [115489069, 115489299]]
ENST00000468790 [[115478968, 115479402], [115480790, 115480927], [115481409, 115481445]] None
ENST00000487232 [[115480756, 115480927], [115481409, 115481538], [115485120, 115485296], [115486063, 115486193], [115489069, 115489262]] None
NM_033340 [[115438920, 115439108], [115457252, 115457362], [115480790, 115480927], [115481409, 115481538], [115485120, 115485188], [115485575, 115485649], [115486063, 115486193], [115489069, 115490668]] [[115457252, 115457362], [115480790, 115480927], [115481409, 115481538], [115485120, 115485188], [115485575, 115485649], [115486063, 115486193], [115489069, 115489183]]
NM_001267056 [[115438920, 115439108], [115457252, 115457362], [115480790, 115480927], [115481409, 115481538], [115485120, 115485296], [115486063, 115486193], [115489069, 115490668]] [[115457252, 115457362], [115480790, 115480927], [115481409, 115481538], [115485120, 115485296], [115486063, 115486193], [115489069, 115489299]]
NM_001320911 [[115438920, 115439108], [115457252, 115457362], [115480759, 115480927], [115481409, 115481538], [115485120, 115485296], [115486063, 115486193], [115489069, 115490668]] [[115457259, 115457362], [115480759, 115480927], [115481409, 115481538], [115485120, 115485296], [115486063, 115486193], [115489069, 115489299]]
NM_001227 [[115439427, 115439737], [115457252, 115457362], [115480790, 115480927], [115481409, 115481538], [115485120, 115485296], [115486063, 115486193], [115489069, 115490668]] [[115457252, 115457362], [115480790, 115480927], [115481409, 115481538], [115485120, 115485296], [115486063, 115486193], [115489069, 115489299]]
NM_001267057 [[115439427, 115439737], [115457252, 115457362], [115480759, 115480927], [115481409, 115481538], [115485120, 115485296], [115486063, 115486193], [115489069, 115490668]] [[115439513, 115439737], [115457252, 115457362], [115480759, 115480927], [115481409, 115481538], [115485120, 115485296], [115486063, 115486193], [115489069, 115489299]]
NM_033339 [[115439427, 115439737], [115451755, 115451829], [115457252, 115457362], [115480790, 115480927], [115481409, 115481538], [115485120, 115485296], [115486063, 115486193], [115489069, 115490668]] [[115457252, 115457362], [115480790, 115480927], [115481409, 115481538], [115485120, 115485296], [115486063, 115486193], [115489069, 115489299]]
NM_033338 [[115439427, 115439737], [115451722, 115451829], [115457252, 115457362], [115480790, 115480927], [115481409, 115481538], [115485120, 115485296], [115486063, 115486193], [115489069, 115490668]] [[115451730, 115451829], [115457252, 115457362], [115480790, 115480927], [115481409, 115481538], [115485120, 115485296], [115486063, 115486193], [115489069, 115489299]]
NM_001267058 [[115469103, 115469205], [115480790, 115480927], [115481409, 115481538], [115485120, 115485296], [115486063, 115486193], [115489069, 115490668]] [[115469170, 115469205], [115480790, 115480927], [115481409, 115481538], [115485120, 115485296], [115486063, 115486193], [115489069, 115489299]]
Promoter
Chrom Start End Description
chr10 115438920 115438961 CAGE_peak_3_at_CASP7_5end
chr10 115438979 115438998 CAGE_peak_4_at_CASP7_5end
chr10 115439033 115439039 CAGE_peak_7_at_CASP7_5end
chr10 115439282 115439286 CAGE_peak_5_at_CASP7_5end
chr10 115439630 115439660 CAGE_peak_2_at_CASP7_5end
chr10 115439661 115439681 CAGE_peak_1_at_CASP7_5end
chr10 115439703 115439712 CAGE_peak_10_at_CASP7_5end
chr10 115469134 115469144 CAGE_peak_11_at_CASP7_5end
chr10 115478975 115478993 CAGE_peak_12_at_CASP7_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I114381 114381937 114382812 0.2 [{'connected_gene': 'CASP7', 'score': 5.43}, {'connected_gene': 'GC10P114357', 'score': 0.34}, {'connected_gene': 'AFAP1L2', 'score': 0.34}]
chr10 GH10I113745 113745484 113748196 0.64 [{'connected_gene': 'CASP7', 'score': 9.87}, {'connected_gene': 'ENSG00000234393', 'score': 4.7}, {'connected_gene': 'PLEKHS1', 'score': 0.77}]
chr10 GH10I113711 113711047 113711785 0.31 [{'connected_gene': 'CASP7', 'score': 22.26}, {'connected_gene': 'PLEKHS1', 'score': 10.14}, {'connected_gene': 'ENSG00000234393', 'score': 0.44}]
chr10 GH10I113708 113708853 113710171 1.37 [{'connected_gene': 'CASP7', 'score': 572.44}, {'connected_gene': 'TCF7L2', 'score': 10.45}, {'connected_gene': 'ENSG00000234393', 'score': 0.44}]
chr10 GH10I113615 113615167 113616181 0.31 [{'connected_gene': 'CASP7', 'score': 10.16}, {'connected_gene': 'NRAP', 'score': 9.92}, {'connected_gene': 'HABP2', 'score': 0.21}]
chr10 GH10I113660 113659830 113662836 0.43 [{'connected_gene': 'CASP7', 'score': 18.3}, {'connected_gene': 'NRAP', 'score': 9.56}, {'connected_gene': 'HABP2', 'score': 0.14}]
chr10 GH10I113616 113616342 113616491 0.66 [{'connected_gene': 'CASP7', 'score': 8.46}, {'connected_gene': 'NRAP', 'score': 0.25}, {'connected_gene': 'HABP2', 'score': 0.2}]
chr10 GH10I113639 113639138 113641003 0.38 [{'connected_gene': 'CASP7', 'score': 21.65}, {'connected_gene': 'NRAP', 'score': 20.96}, {'connected_gene': 'HABP2', 'score': 0.17}]
chr10 GH10I113632 113632373 113634709 0.38 [{'connected_gene': 'CASP7', 'score': 21.21}, {'connected_gene': 'NRAP', 'score': 11.11}, {'connected_gene': 'HABP2', 'score': 0.18}]
chr10 GH10I113610 113610483 113611694 0.54 [{'connected_gene': 'CASP7', 'score': 7.16}, {'connected_gene': 'NRAP', 'score': 0.23}, {'connected_gene': 'HABP2', 'score': 0.21}]
chr10 GH10I113652 113652665 113655105 0.2 [{'connected_gene': 'CASP7', 'score': 21.39}, {'connected_gene': 'NRAP', 'score': 9.23}, {'connected_gene': 'LOC105378488', 'score': 4.26}, {'connected_gene': 'HABP2', 'score': 0.15}]
chr10 GH10I113764 113764285 113767010 0.43 [{'connected_gene': 'CASP7', 'score': 21.11}, {'connected_gene': 'ENSG00000234393', 'score': 15.99}, {'connected_gene': 'NRAP', 'score': 9.4}, {'connected_gene': 'MIR4483', 'score': 0.39}, {'connected_gene': 'PLEKHS1', 'score': 0.39}]
chr10 GH10I113648 113648868 113649593 0.2 [{'connected_gene': 'CASP7', 'score': 21.3}, {'connected_gene': 'HABP2', 'score': 10.49}, {'connected_gene': 'NRAP', 'score': 0.39}]
chr10 GH10I113585 113585199 113587093 0.63 [{'connected_gene': 'CASP7', 'score': 8.87}, {'connected_gene': 'HABP2', 'score': 0.28}, {'connected_gene': 'NRAP', 'score': 0.18}]
chr10 GH10I113590 113590247 113591400 0.2 [{'connected_gene': 'CASP7', 'score': 7.59}, {'connected_gene': 'HABP2', 'score': 0.28}, {'connected_gene': 'NRAP', 'score': 0.19}]
chr10 GH10I113649 113649692 113651060 0.52 [{'connected_gene': 'CASP7', 'score': 21.3}, {'connected_gene': 'HABP2', 'score': 10.49}, {'connected_gene': 'NRAP', 'score': 0.39}]
chr10 GH10I113641 113641206 113643527 0.38 [{'connected_gene': 'CASP7', 'score': 21.34}, {'connected_gene': 'HABP2', 'score': 10.5}, {'connected_gene': 'NRAP', 'score': 9.17}]
chr10 GH10I113583 113583284 113584894 0.2 [{'connected_gene': 'CASP7', 'score': 8.39}, {'connected_gene': 'HABP2', 'score': 0.29}, {'connected_gene': 'NRAP', 'score': 0.18}]
chr10 GH10I113645 113645562 113648431 0.38 [{'connected_gene': 'CASP7', 'score': 21.69}, {'connected_gene': 'HABP2', 'score': 10.49}, {'connected_gene': 'NRAP', 'score': 9.02}]
chr10 GH10I113644 113644822 113644971 0.66 [{'connected_gene': 'CASP7', 'score': 11.52}, {'connected_gene': 'HABP2', 'score': 10.5}, {'connected_gene': 'NRAP', 'score': 0.37}]
chr10 GH10I113799 113799682 113799851 0.63 [{'connected_gene': 'CASP7', 'score': 15.51}, {'connected_gene': 'ENSG00000234393', 'score': 10.72}, {'connected_gene': 'ADRB1', 'score': 10.34}, {'connected_gene': 'PLEKHS1', 'score': 10.06}, {'connected_gene': 'TDRD1', 'score': 9.98}, {'connected_gene': 'ENSG00000212589', 'score': 0.34}, {'connected_gene': 'MIR4483', 'score': 0.34}]
chr10 GH10I113788 113788429 113789520 1.01 [{'connected_gene': 'CASP7', 'score': 22.83}, {'connected_gene': 'ENSG00000234393', 'score': 11.43}, {'connected_gene': 'RNU6-709P', 'score': 11.39}, {'connected_gene': 'PLEKHS1', 'score': 11.05}, {'connected_gene': 'ADRB1', 'score': 10.05}, {'connected_gene': 'NRAP', 'score': 9.81}, {'connected_gene': 'MIR4483', 'score': 0.39}, {'connected_gene': 'ENSG00000212589', 'score': 0.29}]
chr10 GH10I113678 113678582 113682698 2.57 [{'connected_gene': 'CASP7', 'score': 593.07}, {'connected_gene': 'LOC105378488', 'score': 10.71}, {'connected_gene': 'CCDC186', 'score': 10.09}, {'connected_gene': 'ENSG00000234393', 'score': 0.28}]
chr10 GH10I113750 113750282 113755506 0.99 [{'connected_gene': 'PLEKHS1', 'score': 550.77}, {'connected_gene': 'CASP7', 'score': 38.71}, {'connected_gene': 'ENSG00000234393', 'score': 18.56}, {'connected_gene': 'NRAP', 'score': 9.38}, {'connected_gene': 'MIR4483', 'score': 0.31}]
chr10 GH10I113712 113712822 113713071 0.2 [{'connected_gene': 'PLEKHS1', 'score': 10.82}, {'connected_gene': 'NRAP', 'score': 10.4}, {'connected_gene': 'ENSG00000234393', 'score': 0.44}, {'connected_gene': 'CASP7', 'score': 0.29}]
chr10 GH10I113267 113267742 113268033 0.51 [{'connected_gene': 'TCF7L2', 'score': 6.86}, {'connected_gene': 'CASP7', 'score': 1.35}, {'connected_gene': 'LOC105378490', 'score': 0.28}, {'connected_gene': 'LOC105378489', 'score': 0.26}]
chr10 GH10I113325 113325551 113327475 1.36 [{'connected_gene': 'TCF7L2', 'score': 4.53}, {'connected_gene': 'CASP7', 'score': 1.24}, {'connected_gene': 'GC10P113336', 'score': 0.39}, {'connected_gene': 'LOC105378490', 'score': 0.34}]
chr10 GH10I113180 113180588 113180731 0.24 [{'connected_gene': 'TCF7L2', 'score': 12.51}, {'connected_gene': 'CASP7', 'score': 1.43}, {'connected_gene': 'LOC105378489', 'score': 0.25}, {'connected_gene': 'RPS15AP30', 'score': 0.08}]
chr10 GH10I113622 113622348 113623071 0.2 [{'connected_gene': 'NRAP', 'score': 11.23}, {'connected_gene': 'CASP7', 'score': 10.56}, {'connected_gene': 'HABP2', 'score': 10.27}]
chr10 GH10I113623 113623178 113632261 0.6 [{'connected_gene': 'NRAP', 'score': 20.77}, {'connected_gene': 'CASP7', 'score': 18.57}, {'connected_gene': 'HABP2', 'score': 10.26}]
chr10 GH10I113602 113602798 113603972 0.4 [{'connected_gene': 'NRAP', 'score': 10.51}, {'connected_gene': 'CASP7', 'score': 10.02}, {'connected_gene': 'HABP2', 'score': 0.23}]
chr10 GH10I113635 113635585 113637785 0.2 [{'connected_gene': 'NRAP', 'score': 21.59}, {'connected_gene': 'CASP7', 'score': 21.26}, {'connected_gene': 'HABP2', 'score': 0.17}]
chr10 GH10I113620 113620065 113620938 0.58 [{'connected_gene': 'NRAP', 'score': 10.98}, {'connected_gene': 'CASP7', 'score': 10.6}, {'connected_gene': 'HABP2', 'score': 0.2}]
chr10 GH10I113613 113612364 113613957 0.38 [{'connected_gene': 'NRAP', 'score': 10.38}, {'connected_gene': 'CASP7', 'score': 9.28}, {'connected_gene': 'HABP2', 'score': 0.21}]
chr10 GH10I113664 113663011 113663518 0.65 [{'connected_gene': 'NRAP', 'score': 559.56}, {'connected_gene': 'CASP7', 'score': 17.91}, {'connected_gene': 'HABP2', 'score': 0.14}]
chr10 GH10I113663 113663768 113664855 0.9 [{'connected_gene': 'NRAP', 'score': 559.54}, {'connected_gene': 'CASP7', 'score': 8.0}]
chr10 GH10I113665 113665269 113666938 0.89 [{'connected_gene': 'NRAP', 'score': 550.77}, {'connected_gene': 'CASP7', 'score': 18.47}]
chr10 GH10I113923 113923862 113924814 0.31 [{'connected_gene': 'ADRB1', 'score': 10.96}, {'connected_gene': 'ENSG00000234393', 'score': 10.29}, {'connected_gene': 'CASP7', 'score': 10.28}, {'connected_gene': 'PLEKHS1', 'score': 9.6}, {'connected_gene': 'GC10P113911', 'score': 0.39}, {'connected_gene': 'LOC105378492', 'score': 0.18}]
chr10 GH10I113956 113956799 113962601 1.38 [{'connected_gene': 'ADRB1', 'score': 11.42}, {'connected_gene': 'CASP7', 'score': 4.59}, {'connected_gene': 'LOC105378492', 'score': 0.25}, {'connected_gene': 'GC10P113911', 'score': 0.25}]
chr10 GH10I113981 113981588 113984351 0.6 [{'connected_gene': 'RNU6-709P', 'score': 11.37}, {'connected_gene': 'ADRB1', 'score': 11.19}, {'connected_gene': 'CASP7', 'score': 4.76}, {'connected_gene': 'LOC105378492', 'score': 0.31}, {'connected_gene': 'GC10P113911', 'score': 0.19}]
chr10 GH10I113320 113320145 113321800 0.61 [{'connected_gene': 'RNU7-165P', 'score': 12.17}, {'connected_gene': 'TCF7L2', 'score': 10.89}, {'connected_gene': 'CASP7', 'score': 1.71}, {'connected_gene': 'LOC105378490', 'score': 0.39}, {'connected_gene': 'GC10P113336', 'score': 0.37}]
chr10 GH10I113322 113322648 113323294 0.51 [{'connected_gene': 'RNU7-165P', 'score': 12.17}, {'connected_gene': 'TCF7L2', 'score': 5.82}, {'connected_gene': 'CASP7', 'score': 1.19}, {'connected_gene': 'GC10P113336', 'score': 0.39}, {'connected_gene': 'LOC105378490', 'score': 0.37}]
chr10 GH10I113272 113272454 113275095 0.86 [{'connected_gene': 'RNU7-165P', 'score': 11.29}, {'connected_gene': 'TCF7L2', 'score': 5.29}, {'connected_gene': 'TDRD1', 'score': 4.4}, {'connected_gene': 'CASP7', 'score': 1.18}, {'connected_gene': 'LOC105378490', 'score': 0.29}, {'connected_gene': 'LOC105378489', 'score': 0.25}]
chr10 GH10I113710 113710230 113710230 0.2 [{'connected_gene': 'ENSG00000234393', 'score': 0.44}, {'connected_gene': 'CASP7', 'score': 0.29}]
chr10 GH10I113719 113719630 113719700 0.59 [{'connected_gene': 'ENSG00000234393', 'score': 550.77}, {'connected_gene': 'PLEKHS1', 'score': 0.29}, {'connected_gene': 'CASP7', 'score': 0.26}]
chr10 GH10I113720 113720502 113720651 0.38 [{'connected_gene': 'ENSG00000234393', 'score': 550.77}, {'connected_gene': 'PLEKHS1', 'score': 0.29}, {'connected_gene': 'CASP7', 'score': 0.26}]

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