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
ENST00000248668 [[39797207, 39799182], [39804570, 39805976]] [[39798272, 39799182], [39804570, 39805976]]
NM_020862 [[39797456, 39799182], [39804570, 39805976]] [[39798272, 39799182], [39804570, 39805976]]

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I039297 39297737 39299083 0.54 [{'connected_gene': 'SUPT5H', 'score': 21.1}, {'connected_gene': 'ZNF780B', 'score': 15.54}, {'connected_gene': 'PAF1', 'score': 11.75}, {'connected_gene': 'ZNF780A', 'score': 10.66}, {'connected_gene': 'ZNF546', 'score': 10.32}, {'connected_gene': 'SAMD4B', 'score': 10.31}, {'connected_gene': 'PSMC4', 'score': 10.0}, {'connected_gene': 'LRFN1', 'score': 4.86}, {'connected_gene': 'IFNL1', 'score': 0.77}, {'connected_gene': 'GC19M039740', 'score': 0.39}, {'connected_gene': 'GC19P039283', 'score': 0.37}]
chr19 GH19I039320 39320400 39321201 1.49 [{'connected_gene': 'LRFN1', 'score': 557.68}, {'connected_gene': 'ENSG00000268262', 'score': 550.77}, {'connected_gene': 'HNRNPL', 'score': 44.94}, {'connected_gene': 'SUPT5H', 'score': 38.78}, {'connected_gene': 'ZNF780B', 'score': 31.48}, {'connected_gene': 'PAK4', 'score': 29.41}, {'connected_gene': 'ZNF780A', 'score': 22.63}, {'connected_gene': 'ZNF546', 'score': 22.54}, {'connected_gene': 'FBL', 'score': 22.19}, {'connected_gene': 'FBXO17', 'score': 19.92}, {'connected_gene': 'ENSG00000269688', 'score': 13.34}, {'connected_gene': 'ZFP36', 'score': 12.34}, {'connected_gene': 'RN7SL566P', 'score': 12.28}, {'connected_gene': 'PAF1', 'score': 11.96}, {'connected_gene': 'PLEKHG2', 'score': 11.24}, {'connected_gene': 'AKT2', 'score': 11.2}, {'connected_gene': 'RPS16', 'score': 11.08}, {'connected_gene': 'ACTN4', 'score': 10.11}, {'connected_gene': 'ENSG00000268756', 'score': 10.07}, {'connected_gene': 'GC19M039741', 'score': 0.39}, {'connected_gene': 'GC19P039283', 'score': 0.28}]
chr19 GH19I039319 39319945 39320336 1.02 [{'connected_gene': 'LRFN1', 'score': 552.83}, {'connected_gene': 'ENSG00000268262', 'score': 550.77}, {'connected_gene': 'HNRNPL', 'score': 44.94}, {'connected_gene': 'SUPT5H', 'score': 38.78}, {'connected_gene': 'PAK4', 'score': 29.41}, {'connected_gene': 'ZNF780B', 'score': 23.02}, {'connected_gene': 'ZNF780A', 'score': 22.63}, {'connected_gene': 'ZNF546', 'score': 22.54}, {'connected_gene': 'FBL', 'score': 22.19}, {'connected_gene': 'FBXO17', 'score': 19.92}, {'connected_gene': 'ENSG00000269688', 'score': 13.34}, {'connected_gene': 'RN7SL566P', 'score': 12.28}, {'connected_gene': 'PAF1', 'score': 11.96}, {'connected_gene': 'PLEKHG2', 'score': 11.24}, {'connected_gene': 'AKT2', 'score': 11.2}, {'connected_gene': 'RPS16', 'score': 11.08}, {'connected_gene': 'ACTN4', 'score': 10.11}, {'connected_gene': 'ENSG00000268756', 'score': 10.09}, {'connected_gene': 'CLC', 'score': 2.12}, {'connected_gene': 'GC19M039741', 'score': 0.44}, {'connected_gene': 'GC19P039283', 'score': 0.28}]
chr19 GH19I039326 39326381 39326570 0.63 [{'connected_gene': 'LRFN1', 'score': 5.29}, {'connected_gene': 'ENSG00000268262', 'score': 0.44}, {'connected_gene': 'GC19P039341', 'score': 0.37}, {'connected_gene': 'GC19P039283', 'score': 0.26}]
chr19 GH19I038829 38829045 38833605 2.33 [{'connected_gene': 'ECH1', 'score': 550.77}, {'connected_gene': 'HNRNPL', 'score': 35.02}, {'connected_gene': 'ENSG00000269688', 'score': 13.69}, {'connected_gene': 'LOC100631378', 'score': 12.11}, {'connected_gene': 'RN7SL566P', 'score': 12.06}, {'connected_gene': 'LGALS7', 'score': 12.06}, {'connected_gene': 'PLEKHG2', 'score': 11.11}, {'connected_gene': 'ENSG00000268756', 'score': 10.44}, {'connected_gene': 'LGALS7B', 'score': 6.74}, {'connected_gene': 'LRFN1', 'score': 5.21}, {'connected_gene': 'ENSG00000269050', 'score': 4.92}, {'connected_gene': 'LGALS4', 'score': 4.71}, {'connected_gene': 'PIR58999', 'score': 0.77}, {'connected_gene': 'ENSG00000268083', 'score': 0.44}]
chr19 GH19I038876 38876690 38881600 1.8 [{'connected_gene': 'RINL', 'score': 556.01}, {'connected_gene': 'PAF1', 'score': 11.62}, {'connected_gene': 'SUPT5H', 'score': 10.8}, {'connected_gene': 'SAMD4B', 'score': 10.09}, {'connected_gene': 'LGALS7', 'score': 9.81}, {'connected_gene': 'LRFN1', 'score': 5.06}, {'connected_gene': 'LGALS4', 'score': 4.89}, {'connected_gene': 'FBXO17', 'score': 4.82}, {'connected_gene': 'ENSG00000267892', 'score': 4.07}, {'connected_gene': 'GC19M038871', 'score': 0.77}, {'connected_gene': 'SIRT2', 'score': 0.34}]
chr19 GH19I039306 39306541 39306690 0.71 [{'connected_gene': 'EID2B', 'score': 17.26}, {'connected_gene': 'HNRNPL', 'score': 16.91}, {'connected_gene': 'PLEKHG2', 'score': 16.47}, {'connected_gene': 'MED29', 'score': 15.45}, {'connected_gene': 'FBL', 'score': 14.19}, {'connected_gene': 'RPS16', 'score': 11.75}, {'connected_gene': 'ACTN4', 'score': 10.74}, {'connected_gene': 'KCNK6', 'score': 10.56}, {'connected_gene': 'EID2', 'score': 10.13}, {'connected_gene': 'ENSG00000269688', 'score': 10.09}, {'connected_gene': 'GC19M039722', 'score': 0.77}, {'connected_gene': 'GC19M039740', 'score': 0.77}, {'connected_gene': 'LRFN1', 'score': 0.39}, {'connected_gene': 'IFNL1', 'score': 0.39}, {'connected_gene': 'GC19P039283', 'score': 0.34}]
chr19 GH19I039303 39303093 39304008 0.64 [{'connected_gene': 'FBXO17', 'score': 11.85}, {'connected_gene': 'LRFN1', 'score': 4.93}, {'connected_gene': 'GC19M039740', 'score': 0.44}, {'connected_gene': 'IFNL1', 'score': 0.44}, {'connected_gene': 'GC19P039283', 'score': 0.34}]
chr19 GH19I039307 39307695 39308050 0.72 [{'connected_gene': 'GC19M039722', 'score': 550.77}, {'connected_gene': 'GC19M039740', 'score': 550.77}, {'connected_gene': 'LRFN1', 'score': 0.39}, {'connected_gene': 'IFNL1', 'score': 0.39}, {'connected_gene': 'GC19P039283', 'score': 0.34}]
chr19 GH19I039311 39307421 39307650 0.69 [{'connected_gene': 'GC19M039740', 'score': 550.77}, {'connected_gene': 'GC19M039722', 'score': 0.77}, {'connected_gene': 'LRFN1', 'score': 0.39}, {'connected_gene': 'IFNL1', 'score': 0.39}, {'connected_gene': 'GC19P039283', 'score': 0.34}]
chr19 GH19I039312 39309561 39309710 0.43 [{'connected_gene': 'GC19M039722', 'score': 550.77}, {'connected_gene': 'GC19M039741', 'score': 550.77}, {'connected_gene': 'GC19M039740', 'score': 550.77}, {'connected_gene': 'LRFN1', 'score': 0.39}, {'connected_gene': 'GC19P039283', 'score': 0.31}]
chr19 GH19I039308 39308521 39308690 0.86 [{'connected_gene': 'GC19M039722', 'score': 550.77}, {'connected_gene': 'GC19M039740', 'score': 550.77}, {'connected_gene': 'GC19M039741', 'score': 550.77}, {'connected_gene': 'HNRNPL', 'score': 13.04}, {'connected_gene': 'FBL', 'score': 11.78}, {'connected_gene': 'AKT2', 'score': 10.63}, {'connected_gene': 'ZNF780A', 'score': 10.39}, {'connected_gene': 'PAK4', 'score': 9.93}, {'connected_gene': 'LRFN1', 'score': 0.39}, {'connected_gene': 'IFNL1', 'score': 0.39}, {'connected_gene': 'GC19P039283', 'score': 0.31}]
chr19 GH19I039309 39308061 39308270 0.72 [{'connected_gene': 'GC19M039722', 'score': 550.77}, {'connected_gene': 'GC19M039740', 'score': 550.77}, {'connected_gene': 'HNRNPL', 'score': 13.04}, {'connected_gene': 'FBL', 'score': 11.78}, {'connected_gene': 'AKT2', 'score': 10.63}, {'connected_gene': 'ZNF780A', 'score': 10.39}, {'connected_gene': 'PAK4', 'score': 9.93}, {'connected_gene': 'LRFN1', 'score': 0.39}, {'connected_gene': 'IFNL1', 'score': 0.39}, {'connected_gene': 'GC19P039283', 'score': 0.31}]
chr19 GH19I039310 39310530 39311550 0.92 [{'connected_gene': 'GC19M039722', 'score': 550.77}, {'connected_gene': 'GC19M039740', 'score': 550.77}, {'connected_gene': 'GC19M039741', 'score': 550.77}, {'connected_gene': 'HNRNPL', 'score': 21.42}, {'connected_gene': 'FBL', 'score': 12.0}, {'connected_gene': 'PAK4', 'score': 11.32}, {'connected_gene': 'ENSG00000269688', 'score': 11.0}, {'connected_gene': 'PSMC4', 'score': 10.92}, {'connected_gene': 'PAF1', 'score': 10.46}, {'connected_gene': 'ZNF780A', 'score': 9.91}, {'connected_gene': 'LRFN1', 'score': 0.44}, {'connected_gene': 'GC19P039283', 'score': 0.31}]