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
ENST00000291860 [[55235983, 55236035], [55236712, 55236748], [55237518, 55237803], [55239076, 55239376], [55240958, 55241252], [55246719, 55246824], [55247286, 55247339], [55247437, 55248003]] [[55236001, 55236035], [55236712, 55236748], [55237518, 55237803], [55239076, 55239376], [55240958, 55241252], [55246719, 55246824], [55247286, 55247339], [55247437, 55247563]]
NM_153443 [[55235951, 55236035], [55236712, 55236748], [55237518, 55237803], [55239076, 55239376], [55240958, 55241252], [55246719, 55246824], [55247286, 55247339], [55247437, 55248003]] [[55236001, 55236035], [55236712, 55236748], [55237518, 55237803], [55239076, 55239376], [55240958, 55241252], [55246719, 55246824], [55247286, 55247339], [55247437, 55247563]]

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I054695 54695801 54698000 0.75 [{'connected_gene': 'LILRP1', 'score': 550.77}, {'connected_gene': 'KIR3DL3', 'score': 12.26}, {'connected_gene': 'KIR2DL3', 'score': 12.23}, {'connected_gene': 'KIR2DL4', 'score': 12.09}, {'connected_gene': 'KIR3DL1', 'score': 12.08}, {'connected_gene': 'KIR3DX1', 'score': 10.84}, {'connected_gene': 'GP6', 'score': 10.04}, {'connected_gene': 'ENSG00000228790', 'score': 0.44}]
chr19 GH19I054368 54368401 54377270 2.06 [{'connected_gene': 'LAIR1', 'score': 572.15}, {'connected_gene': 'FCAR', 'score': 25.76}, {'connected_gene': 'LILRB2', 'score': 12.26}, {'connected_gene': 'OSCAR', 'score': 10.48}, {'connected_gene': 'LILRA5', 'score': 10.28}, {'connected_gene': 'VSTM1', 'score': 9.64}, {'connected_gene': 'LILRB3', 'score': 7.49}, {'connected_gene': 'LILRB4', 'score': 6.18}, {'connected_gene': 'LILRB1', 'score': 5.94}, {'connected_gene': 'LILRA2', 'score': 4.88}, {'connected_gene': 'LILRA1', 'score': 4.45}, {'connected_gene': 'LENG8', 'score': 2.58}, {'connected_gene': 'LAIR2', 'score': 2.57}, {'connected_gene': 'KIR3DL3', 'score': 1.51}, {'connected_gene': 'LILRA6', 'score': 1.35}, {'connected_gene': 'TARM1', 'score': 1.15}, {'connected_gene': 'ENSG00000237955', 'score': 0.44}]
chr19 GH19I054792 54792401 54793400 0.38 [{'connected_gene': 'KIR2DL3', 'score': 11.57}, {'connected_gene': 'KIR3DL1', 'score': 11.33}, {'connected_gene': 'KIR3DL3', 'score': 11.2}, {'connected_gene': 'NLRP2', 'score': 10.98}, {'connected_gene': 'NLRP7', 'score': 10.98}, {'connected_gene': 'ENSG00000243494', 'score': 10.97}, {'connected_gene': 'KIR3DX1', 'score': 10.09}, {'connected_gene': 'EPS8L1', 'score': 9.88}, {'connected_gene': 'RDH13', 'score': 9.88}, {'connected_gene': 'KIR3DP1', 'score': 0.44}, {'connected_gene': 'KIR2DL4', 'score': 0.39}, {'connected_gene': 'ENSG00000215765', 'score': 0.2}]
chr19 GH19I054859 54859466 54859837 0.76 [{'connected_gene': 'FCAR', 'score': 11.02}, {'connected_gene': 'TNNT1', 'score': 10.61}, {'connected_gene': 'TMEM86B', 'score': 9.96}, {'connected_gene': 'LAIR1', 'score': 6.16}, {'connected_gene': 'LILRB1', 'score': 6.16}, {'connected_gene': 'LILRA1', 'score': 5.88}, {'connected_gene': 'LILRA2', 'score': 5.78}, {'connected_gene': 'TMEM150B', 'score': 5.23}, {'connected_gene': 'LILRB4', 'score': 4.22}, {'connected_gene': 'PPP1R12C', 'score': 2.78}, {'connected_gene': 'KIR3DL3', 'score': 2.41}, {'connected_gene': 'KIR2DS4', 'score': 1.66}, {'connected_gene': 'LENG8', 'score': 1.55}, {'connected_gene': 'LAIR2', 'score': 1.21}, {'connected_gene': 'GC19M054869', 'score': 0.44}, {'connected_gene': 'RNU6-222P', 'score': 0.44}, {'connected_gene': 'KIR3DL2', 'score': 0.44}]
chr19 GH19I054612 54612401 54613000 0.69 [{'connected_gene': 'FCAR', 'score': 12.17}, {'connected_gene': 'LAIR1', 'score': 11.3}, {'connected_gene': 'LILRB1', 'score': 5.28}, {'connected_gene': 'LILRB2', 'score': 3.69}, {'connected_gene': 'LILRB3', 'score': 3.49}, {'connected_gene': 'LILRB4', 'score': 3.37}, {'connected_gene': 'LILRA5', 'score': 2.98}, {'connected_gene': 'LILRA2', 'score': 2.42}, {'connected_gene': 'LILRA1', 'score': 2.24}, {'connected_gene': 'LAIR2', 'score': 2.06}, {'connected_gene': 'KIR3DL3', 'score': 1.6}, {'connected_gene': 'ENSG00000238094', 'score': 0.77}]
chr19 GH19I054660 54660193 54664400 1.65 [{'connected_gene': 'LILRB4', 'score': 564.55}, {'connected_gene': 'FCAR', 'score': 14.54}, {'connected_gene': 'LAIR1', 'score': 13.61}, {'connected_gene': 'LILRB1', 'score': 13.55}, {'connected_gene': 'KIR3DX1', 'score': 11.3}, {'connected_gene': 'LILRB2', 'score': 10.51}, {'connected_gene': 'KIR2DL3', 'score': 10.44}, {'connected_gene': 'LILRA5', 'score': 9.83}, {'connected_gene': 'LILRB3', 'score': 7.75}, {'connected_gene': 'LILRA1', 'score': 6.52}, {'connected_gene': 'LILRA2', 'score': 6.26}, {'connected_gene': 'PPP1R12C', 'score': 2.75}, {'connected_gene': 'LENG8', 'score': 2.31}, {'connected_gene': 'LAIR2', 'score': 1.98}, {'connected_gene': 'LILRA6', 'score': 1.84}, {'connected_gene': 'KIR3DL3', 'score': 1.46}, {'connected_gene': 'ENSG00000225370', 'score': 0.44}, {'connected_gene': 'ENSG00000237323', 'score': 0.39}]
chr19 GH19I054318 54318601 54319600 1.1 [{'connected_gene': 'LILRB2', 'score': 18.86}, {'connected_gene': 'LILRB3', 'score': 16.56}, {'connected_gene': 'LAIR1', 'score': 16.41}, {'connected_gene': 'LILRA6', 'score': 13.4}, {'connected_gene': 'TTYH1', 'score': 12.11}, {'connected_gene': 'ENSG00000227407', 'score': 12.09}, {'connected_gene': 'LILRB5', 'score': 11.95}, {'connected_gene': 'ENSG00000249189', 'score': 11.93}, {'connected_gene': 'CNOT3', 'score': 11.2}, {'connected_gene': 'ENSG00000237017', 'score': 11.2}, {'connected_gene': 'PRPF31', 'score': 11.19}, {'connected_gene': 'TMC4', 'score': 11.18}, {'connected_gene': 'MYADM', 'score': 9.28}, {'connected_gene': 'OSCAR', 'score': 8.8}, {'connected_gene': 'LILRA5', 'score': 6.2}, {'connected_gene': 'VSTM1', 'score': 5.48}, {'connected_gene': 'LILRB4', 'score': 3.94}, {'connected_gene': 'LILRB1', 'score': 3.69}, {'connected_gene': 'LILRA2', 'score': 3.57}, {'connected_gene': 'LILRA1', 'score': 2.9}, {'connected_gene': 'LAIR2', 'score': 2.4}, {'connected_gene': 'LENG8', 'score': 1.71}, {'connected_gene': 'KIR3DL3', 'score': 1.16}, {'connected_gene': 'VN1R104P', 'score': 0.77}, {'connected_gene': 'ENSG00000275210', 'score': 0.37}]
chr19 GH19I054670 54670602 54671412 0.42 [{'connected_gene': 'LOC102724290', 'score': 550.77}, {'connected_gene': 'ENSG00000225370', 'score': 550.77}, {'connected_gene': 'TNNI3', 'score': 10.99}, {'connected_gene': 'DNAAF3', 'score': 10.98}, {'connected_gene': 'ENSG00000239137', 'score': 10.98}, {'connected_gene': 'KIR3DX1', 'score': 10.65}, {'connected_gene': 'LILRA5', 'score': 10.11}, {'connected_gene': 'LILRA1', 'score': 8.84}, {'connected_gene': 'LILRB1', 'score': 8.57}, {'connected_gene': 'LILRB2', 'score': 8.19}, {'connected_gene': 'LILRB3', 'score': 5.56}, {'connected_gene': 'LILRA2', 'score': 4.86}, {'connected_gene': 'LAIR1', 'score': 4.79}, {'connected_gene': 'FCAR', 'score': 4.18}, {'connected_gene': 'LILRB4', 'score': 3.66}, {'connected_gene': 'LILRA6', 'score': 2.51}, {'connected_gene': 'KIR3DL3', 'score': 2.46}, {'connected_gene': 'ENSG00000237323', 'score': 0.37}]
chr19 GH19I054269 54269063 54269283 0.45 [{'connected_gene': 'LOC100420187', 'score': 550.77}, {'connected_gene': 'LAIR1', 'score': 9.96}, {'connected_gene': 'LILRB2', 'score': 9.19}, {'connected_gene': 'LILRA5', 'score': 6.33}, {'connected_gene': 'OSCAR', 'score': 6.16}, {'connected_gene': 'MYADM', 'score': 4.83}, {'connected_gene': 'LILRB3', 'score': 4.73}, {'connected_gene': 'VSTM1', 'score': 4.43}, {'connected_gene': 'LILRB4', 'score': 2.94}, {'connected_gene': 'NLRP12', 'score': 2.92}, {'connected_gene': 'LILRA1', 'score': 2.89}, {'connected_gene': 'LILRB1', 'score': 2.87}, {'connected_gene': 'LILRA2', 'score': 2.42}, {'connected_gene': 'TARM1', 'score': 1.69}, {'connected_gene': 'KIR3DL3', 'score': 1.62}, {'connected_gene': 'LAIR2', 'score': 1.31}, {'connected_gene': 'LENG8', 'score': 1.2}]
chr19 GH19I054724 54724397 54724456 0.61 [{'connected_gene': 'ENSG00000215765', 'score': 550.77}, {'connected_gene': 'KIR3DL3', 'score': 550.77}, {'connected_gene': 'LILRP2', 'score': 0.37}]