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
ENST00000586895 [[9938567, 9938660], [9939002, 9939069], [9939267, 9939351], [9939512, 9939550], [9940640, 9940790]] [[9939013, 9939069], [9939267, 9939351], [9939512, 9939550], [9940640, 9940684]]
ENST00000358666 [[9938567, 9938740], [9939002, 9939069], [9939267, 9939351], [9939512, 9939550], [9940640, 9940791]] [[9939013, 9939069], [9939267, 9939351], [9939512, 9939550], [9940640, 9940684]]
ENST00000590068 [[9938569, 9938619], [9939002, 9939069], [9939267, 9939351], [9939512, 9939550], [9940640, 9940791]] [[9939013, 9939069], [9939267, 9939351], [9939512, 9939550], [9940640, 9940684]]
ENST00000589960 [[9938571, 9938660], [9939002, 9939069], [9940640, 9940791]] None
ENST00000593087 [[9938590, 9938660], [9939002, 9939065], [9939512, 9939550], [9940640, 9940789]] [[9939013, 9939065], [9939512, 9939550], [9940640, 9940661]]
ENST00000588595 [[9938593, 9938660], [9939002, 9939481]] None
ENST00000588141 [[9938593, 9938660], [9939002, 9939351], [9939512, 9939669]] None
ENST00000589372 [[9938601, 9938660], [9939002, 9939069], [9939267, 9939351], [9939512, 9940752]] None
NM_001048241 [[9938555, 9938660], [9939002, 9939069], [9939267, 9939351], [9939512, 9939550], [9940640, 9940797]] [[9939013, 9939069], [9939267, 9939351], [9939512, 9939550], [9940640, 9940684]]
NM_024292 [[9938567, 9938740], [9939002, 9939069], [9939267, 9939351], [9939512, 9939550], [9940640, 9940797]] [[9939013, 9939069], [9939267, 9939351], [9939512, 9939550], [9940640, 9940684]]
Promoter
Chrom Start End Description
chr19 9938562 9938627 CAGE_peak_1_at_UBL5_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I009620 9620200 9623442 2.31 [{'connected_gene': 'ZNF561', 'score': 598.73}, {'connected_gene': 'ZNF561-AS1', 'score': 555.3}, {'connected_gene': 'ZNF266', 'score': 40.46}, {'connected_gene': 'KRI1', 'score': 38.78}, {'connected_gene': 'PPAN', 'score': 29.08}, {'connected_gene': 'FBXL12', 'score': 28.21}, {'connected_gene': 'ZNF317', 'score': 27.92}, {'connected_gene': 'ZNF699', 'score': 25.97}, {'connected_gene': 'RAVER1', 'score': 25.91}, {'connected_gene': 'ZNF558', 'score': 25.9}, {'connected_gene': 'DNMT1', 'score': 25.08}, {'connected_gene': 'ZNF121', 'score': 21.31}, {'connected_gene': 'EIF3G', 'score': 15.23}, {'connected_gene': 'LOC100128428', 'score': 13.5}, {'connected_gene': 'ENSG00000269300', 'score': 11.55}, {'connected_gene': 'ZNF846', 'score': 11.09}, {'connected_gene': 'UBL5', 'score': 10.71}, {'connected_gene': 'CDC37', 'score': 10.35}, {'connected_gene': 'ZNF559', 'score': 9.92}, {'connected_gene': 'LOC100419831', 'score': 9.92}, {'connected_gene': 'PIR53474', 'score': 0.37}]
chr19 GH19I009625 9625801 9626201 0.98 [{'connected_gene': 'ZNF846', 'score': 11.1}, {'connected_gene': 'UBL5', 'score': 10.57}, {'connected_gene': 'ZNF561-AS1', 'score': 0.77}, {'connected_gene': 'ZNF561', 'score': 0.77}, {'connected_gene': 'PIR53474', 'score': 0.39}]
chr19 GH19I009826 9826600 9829081 2.01 [{'connected_gene': 'GC19P009829', 'score': 550.77}, {'connected_gene': 'FBXL12', 'score': 550.77}, {'connected_gene': 'UBL5', 'score': 550.77}]
chr19 GH19I009927 9927510 9927774 0.63 [{'connected_gene': 'GC19P009927', 'score': 550.77}, {'connected_gene': 'COL5A3', 'score': 11.87}, {'connected_gene': 'RDH8', 'score': 11.87}, {'connected_gene': 'C19orf66', 'score': 11.53}, {'connected_gene': 'UBL5', 'score': 11.09}, {'connected_gene': 'MRPL4', 'score': 10.24}, {'connected_gene': 'ICAM1', 'score': 10.24}, {'connected_gene': 'OLFM2', 'score': 0.44}]
chr19 GH19I009637 9637162 9637423 0.22 [{'connected_gene': 'PIR53474', 'score': 550.77}, {'connected_gene': 'ZNF846', 'score': 12.52}, {'connected_gene': 'ZNF812P', 'score': 11.23}, {'connected_gene': 'UBL5', 'score': 10.24}, {'connected_gene': 'ZNF559', 'score': 2.02}, {'connected_gene': 'ZNF561-AS1', 'score': 0.37}, {'connected_gene': 'ZNF561', 'score': 0.37}]