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
ENST00000304418 [[21623025, 21624222]] [[21623095, 21624184]]
NM_001004731 [[21623095, 21624184]] [[21623095, 21624184]]

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I021203 21203230 21204957 0.69 [{'connected_gene': 'SNORD9', 'score': 11.08}, {'connected_gene': 'UBA52P2', 'score': 11.08}, {'connected_gene': 'SNORD8', 'score': 11.08}, {'connected_gene': 'HNRNPC', 'score': 10.95}, {'connected_gene': 'OR5AU1', 'score': 10.25}, {'connected_gene': 'LINC00641', 'score': 0.77}, {'connected_gene': 'LOC100129923', 'score': 0.37}]
chr14 GH14I020797 20797302 20797451 0.78 [{'connected_gene': 'PNP', 'score': 8.85}, {'connected_gene': 'PIP4P1', 'score': 2.26}, {'connected_gene': 'ARHGEF40', 'score': 1.55}, {'connected_gene': 'OR6S1', 'score': 1.35}, {'connected_gene': 'OR5AU1', 'score': 1.33}, {'connected_gene': 'HNRNPC', 'score': 1.25}, {'connected_gene': 'RNASE1', 'score': 0.44}, {'connected_gene': 'LOC105370397', 'score': 0.44}]
chr14 GH14I021191 21191401 21192800 1.01 [{'connected_gene': 'OR5AU1', 'score': 10.84}, {'connected_gene': 'ZNF219', 'score': 10.39}, {'connected_gene': 'TMEM253', 'score': 10.38}, {'connected_gene': 'RNASE13', 'score': 9.9}, {'connected_gene': 'ENSG00000255472', 'score': 9.9}, {'connected_gene': 'TPPP2', 'score': 9.9}, {'connected_gene': 'LOC100129923', 'score': 0.44}, {'connected_gene': 'LINC00641', 'score': 0.39}]
chr14 GH14I021216 21216659 21216921 0.3 [{'connected_gene': 'TRAV8-5', 'score': 5.61}, {'connected_gene': 'OR10G2', 'score': 4.4}, {'connected_gene': 'OR5AU1', 'score': 2.93}, {'connected_gene': 'RNASE8', 'score': 2.16}, {'connected_gene': 'OR4E2', 'score': 1.86}, {'connected_gene': 'OR10G3', 'score': 1.73}, {'connected_gene': 'GC14P021211', 'score': 0.44}, {'connected_gene': 'GC14P021210', 'score': 0.44}, {'connected_gene': 'GC14P021259', 'score': 0.26}, {'connected_gene': 'HNRNPC', 'score': 0.23}]