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
ENST00000358615 [[144792019, 144793405], [144797898, 144798008], [144801563, 144801662], [144826623, 144826712]] [[144797907, 144798008], [144801563, 144801662], [144826623, 144826660]]
ENST00000506264 [[144792048, 144793405], [144794509, 144794628], [144801563, 144801662], [144826623, 144826672]] [[144794584, 144794628], [144801563, 144801662], [144826623, 144826660]]
ENST00000437468 [[144796465, 144796662], [144797898, 144798008], [144801563, 144801662], [144826623, 144826716]] [[144797907, 144798008], [144801563, 144801662], [144826623, 144826660]]
NM_198682 [[144792018, 144793405], [144797898, 144798008], [144801563, 144801662], [144826623, 144826716]] [[144797907, 144798008], [144801563, 144801662], [144826623, 144826660]]
NM_002102 [[144796467, 144796662], [144797898, 144798008], [144801563, 144801662], [144826623, 144826716]] [[144797907, 144798008], [144801563, 144801662], [144826623, 144826660]]
Promoter
Chrom Start End Description
chr4 144826682 144826716 CAGE_peak_1_at_GYPE_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I143905 143905549 143905608 1.18 [{'connected_gene': 'GYPE', 'score': 550.77}, {'connected_gene': 'FREM3', 'score': 10.94}, {'connected_gene': 'LOC100420464', 'score': 0.44}, {'connected_gene': 'LOC101927636', 'score': 0.05}]
chr4 GH04I144104 144104892 144105065 0.85 [{'connected_gene': 'GYPA', 'score': 32.63}, {'connected_gene': 'GYPE', 'score': 31.93}, {'connected_gene': 'GYPB', 'score': 21.98}, {'connected_gene': 'LOC105377460', 'score': 0.34}, {'connected_gene': 'LOC105377461', 'score': 0.14}, {'connected_gene': 'LOC101927636', 'score': 0.03}]
chr4 GH04I143910 143910601 143912601 1.1 [{'connected_gene': 'LOC100420464', 'score': 550.77}, {'connected_gene': 'LOC100419356', 'score': 18.54}, {'connected_gene': 'FREM3', 'score': 10.93}, {'connected_gene': 'GYPE', 'score': 4.67}, {'connected_gene': 'LOC101927636', 'score': 0.05}]
chr4 GH04I143984 143984403 143984671 0.22 [{'connected_gene': 'LOC100419356', 'score': 15.93}, {'connected_gene': 'GYPE', 'score': 15.39}, {'connected_gene': 'GYPA', 'score': 15.23}, {'connected_gene': 'GYPB', 'score': 11.8}, {'connected_gene': 'PIR47279', 'score': 0.19}, {'connected_gene': 'LOC101927636', 'score': 0.04}]
chr4 GH04I143986 143986228 143986377 0.2 [{'connected_gene': 'LOC100419356', 'score': 15.65}, {'connected_gene': 'FREM3', 'score': 10.69}, {'connected_gene': 'GYPE', 'score': 5.02}, {'connected_gene': 'GYPB', 'score': 0.29}, {'connected_gene': 'PIR47279', 'score': 0.19}, {'connected_gene': 'LOC101927636', 'score': 0.04}]
chr4 GH04I143854 143854485 143855480 0.88 [{'connected_gene': 'LOC100419356', 'score': 17.46}, {'connected_gene': 'LOC101927636', 'score': 4.13}, {'connected_gene': 'RPSAP36', 'score': 4.06}, {'connected_gene': 'LOC105377459', 'score': 0.39}, {'connected_gene': 'GYPE', 'score': 0.23}]