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
ENST00000321524 [[4647949, 4648122], [4651049, 4651099], [4652928, 4653070], [4654947, 4654998], [4655474, 4655584], [4657257, 4657344], [4657852, 4658002], [4662148, 4662313], [4668022, 4669213]] [[4648105, 4648122], [4651049, 4651099], [4652928, 4653070], [4654947, 4654998], [4655474, 4655584], [4657257, 4657344], [4657852, 4658002], [4662148, 4662313], [4668022, 4668159]]
ENST00000536346 [[4647963, 4648122], [4651049, 4651099], [4652928, 4653077], [4655474, 4655584], [4657257, 4657344], [4657852, 4658004]] [[4648105, 4648122], [4651049, 4651099], [4652928, 4653074]]
ENST00000536886 [[4648034, 4648122], [4651049, 4651099], [4652928, 4653070], [4657257, 4657344], [4657852, 4658002], [4662148, 4662313], [4665518, 4665677]] [[4648105, 4648122], [4651049, 4651099], [4652928, 4653070], [4657257, 4657264]]
ENST00000544110 [[4648048, 4648122], [4651049, 4651099], [4652928, 4653077], [4657257, 4657344], [4657852, 4658002], [4662148, 4662205]] [[4648105, 4648122], [4651049, 4651099], [4652928, 4653074]]
ENST00000543041 [[4648048, 4648122], [4651049, 4651099], [4652928, 4653077], [4657257, 4657344], [4657852, 4658002], [4662148, 4662313], [4665518, 4665716], [4668022, 4668185]] [[4657292, 4657344], [4657852, 4658002], [4662148, 4662313], [4665518, 4665716], [4668022, 4668159]]
ENST00000398012 [[4648048, 4648122], [4651049, 4651099], [4652928, 4653077], [4657257, 4657344], [4657852, 4658002], [4662148, 4662313], [4665518, 4665716], [4668022, 4668185]] [[4648105, 4648122], [4651049, 4651099], [4652928, 4653074]]
ENST00000535558 [[4648055, 4648122], [4651049, 4651099], [4652928, 4653070], [4657257, 4657344], [4657852, 4658002], [4662148, 4662313], [4665518, 4665716], [4668022, 4668496]] [[4648105, 4648122], [4651049, 4651099], [4652928, 4653070], [4657257, 4657264]]
ENST00000442992 [[4648055, 4648122], [4651049, 4651099], [4652928, 4653077], [4654384, 4654478], [4654947, 4654998], [4655474, 4655584], [4657257, 4657344], [4657852, 4658002], [4662148, 4662313], [4665518, 4665668], [4668022, 4669184]] [[4648105, 4648122], [4651049, 4651099], [4652928, 4653074]]
ENST00000228843 [[4648055, 4648122], [4651049, 4651099], [4652928, 4653070], [4654947, 4654998], [4655474, 4655584], [4657257, 4657344], [4657852, 4658002], [4662148, 4662313], [4665518, 4665668], [4668022, 4669213]] [[4648105, 4648122], [4651049, 4651099], [4652928, 4653070], [4654947, 4654998], [4655474, 4655584], [4657257, 4657344], [4657852, 4658002], [4662148, 4662313], [4665518, 4665668], [4668022, 4668159]]
ENST00000352618 [[4648055, 4648122], [4651049, 4651099], [4652928, 4653070], [4655474, 4655584], [4657257, 4657344], [4657852, 4658002], [4662148, 4662313], [4665518, 4665668], [4668022, 4669214]] [[4648105, 4648122], [4651049, 4651099], [4652928, 4653070], [4655474, 4655584], [4657257, 4657344], [4657852, 4658002], [4662148, 4662313], [4665518, 4665668], [4668022, 4668159]]
ENST00000538817 [[4648072, 4648122], [4651049, 4651099], [4652928, 4653070], [4654384, 4654478], [4654947, 4654998], [4655474, 4655584], [4657257, 4657341]] [[4648105, 4648122], [4651049, 4651099], [4652928, 4653070], [4654384, 4654400]]
ENST00000544927 [[4648095, 4648122], [4651049, 4651099], [4652928, 4653070], [4655474, 4655584], [4657257, 4657344], [4657852, 4658002], [4662148, 4662255], [4668022, 4668136]] [[4648105, 4648122], [4651049, 4651099], [4652928, 4653070], [4655474, 4655584], [4657257, 4657344], [4657852, 4658002], [4662148, 4662255], [4668022, 4668067]]
ENST00000536117 [[4651049, 4651099], [4652928, 4653070], [4655474, 4655584], [4657257, 4657344], [4657852, 4658002], [4662148, 4662313], [4665596, 4665665]] [[4651049, 4651099], [4652928, 4653070], [4655474, 4655584], [4657257, 4657344], [4657852, 4658002], [4662148, 4662313], [4665596, 4665665]]
ENST00000544173 [[4651050, 4651099], [4652928, 4653070], [4654384, 4654478], [4655474, 4655584], [4657257, 4657344], [4657852, 4657936]] [[4651050, 4651099], [4652928, 4653070], [4654384, 4654400]]
ENST00000544029 [[4652949, 4653070], [4655474, 4655584], [4657257, 4657344], [4657852, 4658002], [4662148, 4662431]] None
ENST00000544931 [[4659680, 4659713], [4662148, 4662313], [4668022, 4668848]] None
NM_006479 [[4647949, 4648122], [4651049, 4651099], [4652928, 4653070], [4655474, 4655584], [4657257, 4657344], [4657852, 4658002], [4662148, 4662313], [4665518, 4665668], [4668022, 4669213]] [[4648105, 4648122], [4651049, 4651099], [4652928, 4653070], [4655474, 4655584], [4657257, 4657344], [4657852, 4658002], [4662148, 4662313], [4665518, 4665668], [4668022, 4668159]]
NM_001130862 [[4647949, 4648122], [4651049, 4651099], [4652928, 4653070], [4654947, 4654998], [4655474, 4655584], [4657257, 4657344], [4657852, 4658002], [4662148, 4662313], [4665518, 4665668], [4668022, 4669213]] [[4648105, 4648122], [4651049, 4651099], [4652928, 4653070], [4654947, 4654998], [4655474, 4655584], [4657257, 4657344], [4657852, 4658002], [4662148, 4662313], [4665518, 4665668], [4668022, 4668159]]
Promoter
Chrom Start End Description
chr12 4647995 4648087 CAGE_peak_1_at_RAD51AP1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I004561 4561575 4562799 1.33 [{'connected_gene': 'DYRK4', 'score': 550.77}, {'connected_gene': 'RAD51AP1', 'score': 10.62}, {'connected_gene': 'C12orf4', 'score': 10.62}, {'connected_gene': 'AKAP3', 'score': 5.55}, {'connected_gene': 'GC12M004550', 'score': 0.44}]
chr12 GH12I004440 4439201 4439652 0.46 [{'connected_gene': 'FGF23', 'score': 10.78}, {'connected_gene': 'RAD51AP1', 'score': 10.08}, {'connected_gene': 'C12orf4', 'score': 10.08}, {'connected_gene': 'FGF6', 'score': 0.44}]
chr12 GH12I004439 4439782 4442727 0.95 [{'connected_gene': 'C12orf4', 'score': 14.46}, {'connected_gene': 'FGF23', 'score': 10.77}, {'connected_gene': 'RAD51AP1', 'score': 10.08}, {'connected_gene': 'FGF6', 'score': 0.77}]
chr12 GH12I004506 4506311 4508121 0.75 [{'connected_gene': 'FGF6', 'score': 11.39}, {'connected_gene': 'FGF23', 'score': 11.09}, {'connected_gene': 'RAD51AP1', 'score': 10.84}, {'connected_gene': 'C12orf4', 'score': 10.84}, {'connected_gene': 'TIGAR', 'score': 5.21}]
chr12 GH12I004414 4414696 4415622 0.8 [{'connected_gene': 'FGF6', 'score': 11.46}, {'connected_gene': 'FGF23', 'score': 11.42}, {'connected_gene': 'RAD51AP1', 'score': 10.08}, {'connected_gene': 'C12orf4', 'score': 10.08}]
chr12 GH12I004505 4505549 4506050 0.38 [{'connected_gene': 'FGF6', 'score': 11.39}, {'connected_gene': 'FGF23', 'score': 11.09}, {'connected_gene': 'RAD51AP1', 'score': 10.84}, {'connected_gene': 'C12orf4', 'score': 10.84}]
chr12 GH12I004392 4392558 4392761 0.42 [{'connected_gene': 'FGF6', 'score': 11.12}, {'connected_gene': 'RAD51AP1', 'score': 10.4}, {'connected_gene': 'C12orf4', 'score': 10.4}, {'connected_gene': 'FGF23', 'score': 0.39}]
chr12 GH12I004383 4383000 4383822 0.52 [{'connected_gene': 'FGF6', 'score': 10.6}, {'connected_gene': 'RAD51AP1', 'score': 10.02}, {'connected_gene': 'C12orf4', 'score': 10.02}, {'connected_gene': 'FGF23', 'score': 0.77}]
chr12 GH12I004556 4556244 4557424 0.57 [{'connected_gene': 'RAD51AP1', 'score': 7.93}, {'connected_gene': 'GC12M004550', 'score': 0.77}, {'connected_gene': 'DYRK4', 'score': 0.44}]
chr12 GH12I004587 4587255 4587404 0.31 [{'connected_gene': 'RAD51AP1', 'score': 11.06}, {'connected_gene': 'C12orf4', 'score': 11.06}, {'connected_gene': 'DYRK4', 'score': 10.92}, {'connected_gene': 'GALNT8', 'score': 10.83}, {'connected_gene': 'LOC101929549', 'score': 10.83}, {'connected_gene': 'AKAP3', 'score': 10.72}, {'connected_gene': 'NDUFA9', 'score': 10.72}, {'connected_gene': 'LOC103568124', 'score': 0.37}]
chr12 GH12I004537 4537489 4540504 2.06 [{'connected_gene': 'RAD51AP1', 'score': 550.77}, {'connected_gene': 'C12orf4', 'score': 550.77}, {'connected_gene': 'NTF3', 'score': 11.27}, {'connected_gene': 'GC12M004550', 'score': 0.39}]
chr12 GH12I004568 4568801 4569400 0.2 [{'connected_gene': 'RAD51AP1', 'score': 11.78}, {'connected_gene': 'C12orf4', 'score': 11.78}, {'connected_gene': 'LOC103568124', 'score': 10.65}, {'connected_gene': 'NDUFA9', 'score': 10.54}, {'connected_gene': 'AKAP3', 'score': 10.12}, {'connected_gene': 'DYRK4', 'score': 0.44}]
chr12 GH12I004564 4564601 4568784 0.8 [{'connected_gene': 'AKAP3', 'score': 15.95}, {'connected_gene': 'RAD51AP1', 'score': 11.8}, {'connected_gene': 'C12orf4', 'score': 11.8}, {'connected_gene': 'LOC103568124', 'score': 10.97}, {'connected_gene': 'NDUFA9', 'score': 10.87}, {'connected_gene': 'TIGAR', 'score': 5.33}, {'connected_gene': 'DYRK4', 'score': 0.77}]
chr12 GH12I004661 4661006 4661247 0.38 [{'connected_gene': 'AKAP3', 'score': 17.07}, {'connected_gene': 'LOC103568124', 'score': 11.02}, {'connected_gene': 'DYRK4', 'score': 10.95}, {'connected_gene': 'GALNT8', 'score': 10.79}, {'connected_gene': 'LOC101929549', 'score': 10.79}, {'connected_gene': 'C12orf4', 'score': 10.24}, {'connected_gene': 'RAD51AP1', 'score': 10.24}, {'connected_gene': 'ENSG00000255639', 'score': 0.77}, {'connected_gene': 'GC12P005656', 'score': 0.39}, {'connected_gene': 'NDUFA9', 'score': 0.39}, {'connected_gene': 'ENSG00000272921', 'score': 0.22}]
chr12 GH12I004555 4555915 4556064 0.2 [{'connected_gene': 'GC12M004550', 'score': 0.77}, {'connected_gene': 'DYRK4', 'score': 0.44}, {'connected_gene': 'RAD51AP1', 'score': 0.37}]

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