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
ENST00000334549 [[118956999, 118957222], [118960669, 118960798], [118969007, 118969810]] [[118956999, 118957222], [118960669, 118960798], [118969007, 118969810]]
NM_181840 [[118956999, 118957222], [118960669, 118960798], [118969007, 118969810]] [[118956999, 118957222], [118960669, 118960798], [118969007, 118969810]]

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I117259 117259834 117259883 0.22 [{'connected_gene': 'SLC18A2', 'score': 7.38}, {'connected_gene': 'KCNK18', 'score': 1.79}, {'connected_gene': 'ENSG00000277879', 'score': 0.44}, {'connected_gene': 'LOC105378500', 'score': 0.37}]
chr10 GH10I116984 116984325 116984469 0.69 [{'connected_gene': 'SHTN1', 'score': 4.35}, {'connected_gene': 'KCNK18', 'score': 2.51}, {'connected_gene': 'HSPA12A', 'score': 1.76}, {'connected_gene': 'PNLIP', 'score': 1.72}, {'connected_gene': 'PNLIPRP2', 'score': 1.64}, {'connected_gene': 'PNLIPRP1', 'score': 1.62}, {'connected_gene': 'VAX1', 'score': 1.37}, {'connected_gene': 'ENSG00000235742', 'score': 0.28}]
chr10 GH10I117070 117070311 117070391 0.22 [{'connected_gene': 'KCNK18', 'score': 2.0}, {'connected_gene': 'SHTN1', 'score': 1.94}, {'connected_gene': 'C10orf82', 'score': 1.24}, {'connected_gene': 'ENSG00000235742', 'score': 0.25}]
chr10 GH10I117496 117496630 117496879 1.06 [{'connected_gene': 'KCNK18', 'score': 2.08}, {'connected_gene': 'EMX2', 'score': 1.93}, {'connected_gene': 'SHTN1', 'score': 1.53}, {'connected_gene': 'GC10P117520', 'score': 0.34}, {'connected_gene': 'EMX2OS', 'score': 0.25}, {'connected_gene': 'LOC105378502', 'score': 0.19}]
chr10 GH10I117174 117174601 117176299 1.09 [{'connected_gene': 'VAX1', 'score': 11.86}, {'connected_gene': 'KCNK18', 'score': 11.85}, {'connected_gene': 'RPL12P26', 'score': 11.85}, {'connected_gene': 'MIR3663HG', 'score': 11.04}, {'connected_gene': 'RAB11FIP2', 'score': 10.52}, {'connected_gene': 'SLC18A2', 'score': 10.31}, {'connected_gene': 'LOC105378500', 'score': 10.31}, {'connected_gene': 'GC10M117197', 'score': 0.34}]
chr10 GH10I117166 117166496 117166636 0.41 [{'connected_gene': 'MIR3663', 'score': 550.77}, {'connected_gene': 'VAX1', 'score': 17.76}, {'connected_gene': 'KCNK18', 'score': 10.83}, {'connected_gene': 'RPL12P26', 'score': 10.83}, {'connected_gene': 'MIR3663HG', 'score': 0.77}]
chr10 GH10I117165 117165850 117166039 0.73 [{'connected_gene': 'MIR3663', 'score': 550.77}, {'connected_gene': 'VAX1', 'score': 11.89}, {'connected_gene': 'KCNK18', 'score': 10.83}, {'connected_gene': 'RPL12P26', 'score': 10.83}, {'connected_gene': 'MIR3663HG', 'score': 0.77}]
chr10 GH10I117168 117168190 117168379 0.84 [{'connected_gene': 'MIR3663', 'score': 550.77}, {'connected_gene': 'MIR3663HG', 'score': 550.77}, {'connected_gene': 'VAX1', 'score': 11.89}, {'connected_gene': 'KCNK18', 'score': 10.85}, {'connected_gene': 'RPL12P26', 'score': 10.85}]
chr10 GH10I117167 117167124 117167252 0.33 [{'connected_gene': 'MIR3663', 'score': 550.77}, {'connected_gene': 'MIR3663HG', 'score': 550.77}, {'connected_gene': 'VAX1', 'score': 14.47}, {'connected_gene': 'RPL12P26', 'score': 10.85}, {'connected_gene': 'KCNK18', 'score': 10.83}, {'connected_gene': 'C10orf82', 'score': 1.35}]