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
ENST00000054666 [[7831328, 7831445], [7833501, 7833571], [7837219, 7837378], [7838177, 7838229], [7839685, 7841492]] [[7831443, 7831445], [7833501, 7833571], [7837219, 7837378], [7838177, 7838229], [7839685, 7839705]]
ENST00000470357 [[7832766, 7833258], [7833501, 7833571], [7837219, 7837378], [7838177, 7838229], [7839685, 7839866]] [[7837231, 7837378], [7838177, 7838229], [7839685, 7839705]]
ENST00000487194 [[7837156, 7837378], [7838177, 7838229]] None
NM_004781 [[7831328, 7831445], [7833501, 7833571], [7837219, 7837378], [7838177, 7838229], [7839685, 7841492]] [[7831443, 7831445], [7833501, 7833571], [7837219, 7837378], [7838177, 7838229], [7839685, 7839705]]
Promoter
Chrom Start End Description
chr1 7831323 7831414 CAGE_peak_1_at_VAMP3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I007706 7706161 7706310 0.31 [{'connected_gene': 'VAMP3', 'score': 11.01}, {'connected_gene': 'ENSG00000236266', 'score': 10.2}, {'connected_gene': 'PER3', 'score': 10.16}, {'connected_gene': 'TNFRSF9', 'score': 10.07}, {'connected_gene': 'LOC105376689', 'score': 0.77}, {'connected_gene': 'CAMTA1', 'score': 0.03}]
chr1 GH01I007885 7885425 7886264 0.77 [{'connected_gene': 'VAMP3', 'score': 5.64}, {'connected_gene': 'PARK7', 'score': 5.52}, {'connected_gene': 'UTS2', 'score': 0.31}, {'connected_gene': 'ENSG00000236266', 'score': 0.22}]
chr1 GH01I007770 7770173 7772470 2.01 [{'connected_gene': 'VAMP3', 'score': 558.78}, {'connected_gene': 'ENSG00000269925', 'score': 6.68}, {'connected_gene': 'UTS2', 'score': 5.7}, {'connected_gene': 'ENSG00000270171', 'score': 5.39}, {'connected_gene': 'PARK7', 'score': 5.3}]
chr1 GH01I007729 7729941 7730090 0.31 [{'connected_gene': 'PER3', 'score': 10.95}, {'connected_gene': 'VAMP3', 'score': 10.69}, {'connected_gene': 'UTS2', 'score': 10.04}, {'connected_gene': 'LOC105376689', 'score': 0.31}, {'connected_gene': 'CAMTA1', 'score': 0.02}]
chr1 GH01I007782 7782963 7785366 2.22 [{'connected_gene': 'PER3', 'score': 554.8}, {'connected_gene': 'VAMP3', 'score': 5.69}, {'connected_gene': 'UTS2', 'score': 4.59}, {'connected_gene': 'ENSG00000269925', 'score': 0.44}]
chr1 GH01I007752 7752401 7753530 0.97 [{'connected_gene': 'PER3', 'score': 10.6}, {'connected_gene': 'TNFRSF9', 'score': 9.91}, {'connected_gene': 'ENSG00000270171', 'score': 5.53}, {'connected_gene': 'ENSG00000270035', 'score': 4.86}, {'connected_gene': 'VAMP3', 'score': 0.37}, {'connected_gene': 'LOC105376689', 'score': 0.25}, {'connected_gene': 'CAMTA1', 'score': 0.03}]
chr1 GH01I007893 7893941 7894090 0.46 [{'connected_gene': 'PARK7', 'score': 11.3}, {'connected_gene': 'ENSG00000236266', 'score': 11.13}, {'connected_gene': 'PER3', 'score': 10.77}, {'connected_gene': 'VAMP3', 'score': 10.18}, {'connected_gene': 'SLC45A1', 'score': 8.88}, {'connected_gene': 'UTS2', 'score': 0.37}]
chr1 GH01I007902 7902401 7903469 1.08 [{'connected_gene': 'UTS2', 'score': 17.18}, {'connected_gene': 'PER3', 'score': 10.82}, {'connected_gene': 'VAMP3', 'score': 10.34}, {'connected_gene': 'PARK7', 'score': 8.28}, {'connected_gene': 'ENSG00000238290', 'score': 4.49}, {'connected_gene': 'ENSG00000236266', 'score': 0.18}]
chr1 GH01I007912 7912676 7913652 0.77 [{'connected_gene': 'UTS2', 'score': 584.35}, {'connected_gene': 'TNFRSF9', 'score': 11.58}, {'connected_gene': 'VAMP3', 'score': 10.48}, {'connected_gene': 'PER3', 'score': 10.35}, {'connected_gene': 'SLC45A1', 'score': 9.43}, {'connected_gene': 'ENSG00000238290', 'score': 8.86}, {'connected_gene': 'ENSG00000236266', 'score': 0.17}]
chr1 GH01I007703 7703724 7706031 1.47 [{'connected_gene': 'LOC105376689', 'score': 550.77}, {'connected_gene': 'PER3', 'score': 17.02}, {'connected_gene': 'ENSG00000270171', 'score': 11.42}, {'connected_gene': 'VAMP3', 'score': 11.01}, {'connected_gene': 'SLC45A1', 'score': 10.49}, {'connected_gene': 'ENSG00000236266', 'score': 10.2}, {'connected_gene': 'TNFRSF9', 'score': 10.07}, {'connected_gene': 'CAMTA1', 'score': 5.63}]
chr1 GH01I007678 7678555 7681883 1.06 [{'connected_gene': 'ENSG00000270171', 'score': 13.69}, {'connected_gene': 'VAMP3', 'score': 11.29}, {'connected_gene': 'PER3', 'score': 10.81}, {'connected_gene': 'CAMTA1', 'score': 9.41}, {'connected_gene': 'GC01P007609', 'score': 0.19}]
chr1 GH01I007681 7681946 7682081 0.34 [{'connected_gene': 'ENSG00000270171', 'score': 13.68}, {'connected_gene': 'PER3', 'score': 12.17}, {'connected_gene': 'VAMP3', 'score': 11.3}, {'connected_gene': 'GC01P007609', 'score': 0.19}, {'connected_gene': 'CAMTA1', 'score': 0.03}]
chr1 GH01I008088 8088625 8099573 1.74 [{'connected_gene': 'ENSG00000238290', 'score': 24.59}, {'connected_gene': 'SLC45A1', 'score': 11.47}, {'connected_gene': 'PARK7', 'score': 8.26}, {'connected_gene': 'LOC100129776', 'score': 4.77}, {'connected_gene': 'VAMP3', 'score': 1.68}, {'connected_gene': 'RPL7AP18', 'score': 0.28}]
chr1 GH01I008126 8126602 8128404 1.19 [{'connected_gene': 'ENSG00000238290', 'score': 10.94}, {'connected_gene': 'PARK7', 'score': 5.64}, {'connected_gene': 'VAMP3', 'score': 1.76}, {'connected_gene': 'TNFRSF9', 'score': 1.55}, {'connected_gene': 'LOC100129776', 'score': 0.21}, {'connected_gene': 'RPL7AP18', 'score': 0.2}]
chr1 GH01I007993 7993156 7994944 1.38 [{'connected_gene': 'ENSG00000238290', 'score': 41.3}, {'connected_gene': 'PARK7', 'score': 11.6}, {'connected_gene': 'ERRFI1', 'score': 11.51}, {'connected_gene': 'SLC45A1', 'score': 10.89}, {'connected_gene': 'TNFRSF9', 'score': 10.38}, {'connected_gene': 'PER3', 'score': 9.07}, {'connected_gene': 'VAMP3', 'score': 8.8}, {'connected_gene': 'ENSG00000284747', 'score': 0.77}, {'connected_gene': 'ENSG00000284716', 'score': 0.44}]
chr1 GH01I007991 7991225 7992943 0.52 [{'connected_gene': 'ENSG00000284747', 'score': 550.77}, {'connected_gene': 'ENSG00000238290', 'score': 17.77}, {'connected_gene': 'PARK7', 'score': 11.6}, {'connected_gene': 'ERRFI1', 'score': 11.51}, {'connected_gene': 'SLC45A1', 'score': 10.89}, {'connected_gene': 'TNFRSF9', 'score': 10.4}, {'connected_gene': 'PER3', 'score': 9.07}, {'connected_gene': 'VAMP3', 'score': 8.8}, {'connected_gene': 'ENSG00000284716', 'score': 0.44}]
chr1 GH01I007929 7929606 7931819 0.64 [{'connected_gene': 'PIR36767', 'score': 550.77}, {'connected_gene': 'PARK7', 'score': 25.24}, {'connected_gene': 'UTS2', 'score': 16.03}, {'connected_gene': 'VAMP3', 'score': 10.32}, {'connected_gene': 'SLC45A1', 'score': 9.48}, {'connected_gene': 'GC01P007941', 'score': 0.39}, {'connected_gene': 'TNFRSF9', 'score': 0.39}]