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
ENST00000369562 [[88117700, 88117807], [88119552, 88119665], [88120302, 88120386], [88123527, 88123618], [88125403, 88125592], [88126386, 88126545], [88127925, 88128134], [88136243, 88136363], [88138343, 88138542], [88140750, 88140891], [88144577, 88144771], [88170739, 88170883], [88173737, 88174183]] [[88119557, 88119665], [88120302, 88120386], [88123527, 88123618], [88125403, 88125592], [88126386, 88126545], [88127925, 88128134], [88136243, 88136363], [88138343, 88138542], [88140750, 88140891], [88144577, 88144771], [88170739, 88170883], [88173737, 88173968]]
ENST00000296885 [[88117730, 88117807], [88119552, 88119665], [88120302, 88120386], [88123527, 88123618], [88125403, 88125592], [88126386, 88126545], [88127925, 88128134], [88136243, 88136363], [88138343, 88138542], [88140750, 88140891], [88144577, 88145775]] None
ENST00000489338 [[88117743, 88117807], [88119556, 88119665], [88120302, 88120386], [88123527, 88123618], [88125280, 88125592], [88126386, 88126545], [88127925, 88128134], [88136243, 88136363], [88138343, 88138542], [88140750, 88140891], [88144577, 88144771], [88170739, 88170883], [88173737, 88174178]] [[88119557, 88119665], [88120302, 88120386], [88123527, 88123618], [88125280, 88125285]]
ENST00000480123 [[88118206, 88118496], [88119552, 88119665], [88120302, 88120386], [88123527, 88123618], [88125403, 88125592], [88126386, 88126545], [88127925, 88128049]] [[88119557, 88119665], [88120302, 88120386], [88123527, 88123618], [88125403, 88125592], [88126386, 88126545], [88127925, 88128049]]
NM_001031743 [[88117689, 88117807], [88119552, 88119665], [88120302, 88120386], [88123527, 88123618], [88125403, 88125592], [88126386, 88126545], [88127925, 88128134], [88136243, 88136363], [88138343, 88138542], [88140750, 88140891], [88144577, 88144771], [88170739, 88170883], [88173737, 88174191]] [[88119557, 88119665], [88120302, 88120386], [88123527, 88123618], [88125403, 88125592], [88126386, 88126545], [88127925, 88128134], [88136243, 88136363], [88138343, 88138542], [88140750, 88140891], [88144577, 88144771], [88170739, 88170883], [88173737, 88173968]]
Promoter
Chrom Start End Description
chr6 88117683 88117751 CAGE_peak_1_at_C6orf165_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I087436 87436401 87436801 0.95 [{'connected_gene': 'ORC3', 'score': 19.23}, {'connected_gene': 'ENSG00000272008', 'score': 11.21}, {'connected_gene': 'LINC01590', 'score': 11.11}, {'connected_gene': 'SLC35A1', 'score': 5.99}, {'connected_gene': 'LOC100420741', 'score': 0.44}, {'connected_gene': 'TAF13P1', 'score': 0.39}, {'connected_gene': 'ENSG00000213204', 'score': 0.31}, {'connected_gene': 'CFAP206', 'score': 0.31}]
chr6 GH06I087450 87450569 87450580 0.22 [{'connected_gene': 'RNU6-444P', 'score': 11.35}, {'connected_gene': 'ST13P16', 'score': 0.44}, {'connected_gene': 'SLC35A1', 'score': 0.34}, {'connected_gene': 'ENSG00000213204', 'score': 0.26}, {'connected_gene': 'CFAP206', 'score': 0.26}]
chr6 GH06I087393 87393163 87393292 0.67 [{'connected_gene': 'SLC35A1', 'score': 13.33}, {'connected_gene': 'CFAP206', 'score': 0.39}, {'connected_gene': 'GC06P087375', 'score': 0.37}, {'connected_gene': 'SMIM8', 'score': 0.19}, {'connected_gene': 'LINC01590', 'score': 0.19}]
chr6 GH06I087421 87421185 87422263 0.71 [{'connected_gene': 'SLC35A1', 'score': 12.02}, {'connected_gene': 'RNU6-444P', 'score': 10.54}, {'connected_gene': 'CFAP206', 'score': 6.77}, {'connected_gene': 'GC06M087427', 'score': 0.77}, {'connected_gene': 'PIR56225', 'score': 0.77}, {'connected_gene': 'ENSG00000213204', 'score': 0.39}]
chr6 GH06I087444 87444296 87445083 0.43 [{'connected_gene': 'ST13P16', 'score': 550.77}, {'connected_gene': 'SLC35A1', 'score': 11.95}, {'connected_gene': 'RNU6-444P', 'score': 11.3}, {'connected_gene': 'LOC100420741', 'score': 0.77}, {'connected_gene': 'ENSG00000213204', 'score': 0.28}, {'connected_gene': 'CFAP206', 'score': 0.28}]
chr6 GH06I087407 87407201 87409271 1.95 [{'connected_gene': 'ENSG00000213204', 'score': 550.77}, {'connected_gene': 'CFAP206', 'score': 550.77}, {'connected_gene': 'SLC35A1', 'score': 16.57}, {'connected_gene': 'GC06M087427', 'score': 0.37}, {'connected_gene': 'PIR56225', 'score': 0.37}]