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
ENST00000264952 [[141496989, 141497738], [141499215, 141499653], [141526486, 141526761], [141535555, 141537332]] [[141497126, 141497738], [141499215, 141499653], [141526486, 141526761], [141535555, 141535892]]
NM_139209 [[141497042, 141497738], [141499215, 141499653], [141526486, 141526761], [141535555, 141535892]] [[141497126, 141497738], [141499215, 141499653], [141526486, 141526761], [141535555, 141535892]]

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I141736 141736964 141742920 2.34 [{'connected_gene': 'RNF7', 'score': 561.84}, {'connected_gene': 'RASA2', 'score': 14.48}, {'connected_gene': 'ATP1B3', 'score': 11.61}, {'connected_gene': 'ATP1B3-AS1', 'score': 10.99}, {'connected_gene': 'GRK7', 'score': 10.82}, {'connected_gene': 'RNU6-509P', 'score': 10.48}, {'connected_gene': 'ATR', 'score': 9.74}]
chr3 GH03I141689 141689801 141691054 0.31 [{'connected_gene': 'RNF7', 'score': 11.89}, {'connected_gene': 'ATP1B3', 'score': 10.61}, {'connected_gene': 'GRK7', 'score': 10.39}, {'connected_gene': 'TPT1P3', 'score': 0.37}, {'connected_gene': 'LOC646730', 'score': 0.29}]
chr3 GH03I141685 141685954 141687498 0.95 [{'connected_gene': 'RNF7', 'score': 11.87}, {'connected_gene': 'ATP1B3', 'score': 10.61}, {'connected_gene': 'GRK7', 'score': 10.38}, {'connected_gene': 'TPT1P3', 'score': 0.34}, {'connected_gene': 'LOC646730', 'score': 0.31}]
chr3 GH03I141680 141680601 141681659 0.79 [{'connected_gene': 'RNF7', 'score': 11.71}, {'connected_gene': 'GRK7', 'score': 10.89}, {'connected_gene': 'LOC646730', 'score': 0.34}, {'connected_gene': 'TPT1P3', 'score': 0.31}]
chr3 GH03I141646 141646800 141647200 0.98 [{'connected_gene': 'RNF7', 'score': 12.31}, {'connected_gene': 'GRK7', 'score': 11.25}, {'connected_gene': 'LOC646730', 'score': 0.39}, {'connected_gene': 'GC03P141615', 'score': 0.29}]
chr3 GH03I141644 141644999 141645201 0.92 [{'connected_gene': 'RNF7', 'score': 12.31}, {'connected_gene': 'GRK7', 'score': 11.25}, {'connected_gene': 'LOC646730', 'score': 0.37}, {'connected_gene': 'GC03P141615', 'score': 0.29}]
chr3 GH03I141677 141677818 141677972 0.23 [{'connected_gene': 'RNF7', 'score': 11.95}, {'connected_gene': 'GRK7', 'score': 10.19}, {'connected_gene': 'ATP1B3', 'score': 4.81}, {'connected_gene': 'LOC646730', 'score': 0.37}, {'connected_gene': 'TPT1P3', 'score': 0.29}]
chr3 GH03I141860 141860621 141861968 1.15 [{'connected_gene': 'RNF7', 'score': 11.65}, {'connected_gene': 'GRK7', 'score': 10.86}, {'connected_gene': 'ATP1B3', 'score': 7.5}, {'connected_gene': 'GC03M141866', 'score': 0.77}, {'connected_gene': 'LOC105374134', 'score': 0.44}]
chr3 GH03I141933 141933705 141934468 0.38 [{'connected_gene': 'RNF7', 'score': 11.23}, {'connected_gene': 'GRK7', 'score': 10.32}, {'connected_gene': 'ATP1B3', 'score': 7.34}, {'connected_gene': 'ENSG00000279147', 'score': 0.77}, {'connected_gene': 'ATP1B3-AS1', 'score': 0.37}]
chr3 GH03I141859 141859319 141860098 0.43 [{'connected_gene': 'RNF7', 'score': 11.65}, {'connected_gene': 'GRK7', 'score': 11.5}, {'connected_gene': 'RNU6-509P', 'score': 10.81}, {'connected_gene': 'GC03M141866', 'score': 0.44}, {'connected_gene': 'LOC105374134', 'score': 0.44}]
chr3 GH03I141863 141863327 141864706 0.45 [{'connected_gene': 'HMGN2P25', 'score': 550.77}, {'connected_gene': 'GC03M141866', 'score': 550.77}, {'connected_gene': 'RNF7', 'score': 11.43}, {'connected_gene': 'GRK7', 'score': 11.31}, {'connected_gene': 'ATP1B3', 'score': 9.83}, {'connected_gene': 'LOC105374134', 'score': 0.39}]
chr3 GH03I141803 141803992 141806356 1.01 [{'connected_gene': 'XRN1', 'score': 36.1}, {'connected_gene': 'ATR', 'score': 12.76}, {'connected_gene': 'TRPC1', 'score': 11.86}, {'connected_gene': 'RASA2', 'score': 10.88}, {'connected_gene': 'YWHAQP6', 'score': 10.59}, {'connected_gene': 'ENSG00000244327', 'score': 10.4}, {'connected_gene': 'GRK7', 'score': 6.47}, {'connected_gene': 'PIR31846', 'score': 0.34}, {'connected_gene': 'LOC105374134', 'score': 0.25}]
chr3 GH03I141795 141795247 141799227 1.14 [{'connected_gene': 'ATP1B3', 'score': 12.12}, {'connected_gene': 'RNF7', 'score': 11.7}, {'connected_gene': 'GRK7', 'score': 10.34}, {'connected_gene': 'RASA2', 'score': 2.9}, {'connected_gene': 'TFDP2', 'score': 1.95}, {'connected_gene': 'GK5', 'score': 1.16}, {'connected_gene': 'PIR31846', 'score': 0.37}, {'connected_gene': 'LOC105374134', 'score': 0.23}]
chr3 GH03I141848 141848986 141849913 0.95 [{'connected_gene': 'ATP1B3', 'score': 18.14}, {'connected_gene': 'RNF7', 'score': 16.67}, {'connected_gene': 'GRK7', 'score': 11.13}, {'connected_gene': 'GK5', 'score': 5.43}, {'connected_gene': 'LOC105374134', 'score': 0.77}, {'connected_gene': 'PIR31846', 'score': 0.2}]
chr3 GH03I141913 141913319 141913468 0.78 [{'connected_gene': 'ATP1B3', 'score': 20.63}, {'connected_gene': 'TRPC1', 'score': 12.53}, {'connected_gene': 'RNF7', 'score': 11.54}, {'connected_gene': 'GRK7', 'score': 10.89}, {'connected_gene': 'RNU6-425P', 'score': 9.95}, {'connected_gene': 'ATP1B3-AS1', 'score': 0.44}, {'connected_gene': 'GC03M141903', 'score': 0.39}, {'connected_gene': 'RNU6-509P', 'score': 0.39}]
chr3 GH03I141854 141854746 141854868 0.34 [{'connected_gene': 'ATP1B3', 'score': 15.5}, {'connected_gene': 'GRK7', 'score': 12.78}, {'connected_gene': 'RNF7', 'score': 11.17}, {'connected_gene': 'RNU6-509P', 'score': 11.01}, {'connected_gene': 'LOC105374134', 'score': 0.77}, {'connected_gene': 'GC03M141866', 'score': 0.39}]
chr3 GH03I142034 142034954 142038199 0.54 [{'connected_gene': 'ATP1B3', 'score': 4.86}, {'connected_gene': 'GRK7', 'score': 4.31}, {'connected_gene': 'RPL19P6', 'score': 0.44}, {'connected_gene': 'PIR46950', 'score': 0.18}, {'connected_gene': 'TFDP2', 'score': 0.14}]
chr3 GH03I141828 141828316 141831628 0.86 [{'connected_gene': 'GRK7', 'score': 16.73}, {'connected_gene': 'RNF7', 'score': 16.72}, {'connected_gene': 'ATP1B3', 'score': 12.03}, {'connected_gene': 'LOC105374134', 'score': 0.34}, {'connected_gene': 'PIR31846', 'score': 0.25}]
chr3 GH03I141678 141678962 141679228 0.26 [{'connected_gene': 'GRK7', 'score': 10.87}, {'connected_gene': 'LOC646730', 'score': 0.37}, {'connected_gene': 'TPT1P3', 'score': 0.29}]
chr3 GH03I141763 141763333 141763609 0.28 [{'connected_gene': 'GRK7', 'score': 12.82}, {'connected_gene': 'ATP1B3', 'score': 11.99}, {'connected_gene': 'RNU6-509P', 'score': 11.56}, {'connected_gene': 'GC03P141781', 'score': 0.39}, {'connected_gene': 'GC03P141782', 'score': 0.39}]
chr3 GH03I141762 141762801 141763000 0.31 [{'connected_gene': 'GRK7', 'score': 16.57}, {'connected_gene': 'ATP1B3', 'score': 11.99}, {'connected_gene': 'RNU6-509P', 'score': 11.55}, {'connected_gene': 'GC03P141781', 'score': 0.37}, {'connected_gene': 'GC03P141782', 'score': 0.37}]
chr3 GH03I141852 141852802 141854000 0.62 [{'connected_gene': 'LOC105374134', 'score': 550.77}, {'connected_gene': 'ATP1B3', 'score': 17.38}, {'connected_gene': 'RNF7', 'score': 11.83}, {'connected_gene': 'GRK7', 'score': 11.7}, {'connected_gene': 'RNU6-509P', 'score': 11.01}, {'connected_gene': 'GC03M141866', 'score': 0.39}]
chr3 GH03I141851 141851539 141851688 0.31 [{'connected_gene': 'LOC105374134', 'score': 550.77}, {'connected_gene': 'ATP1B3', 'score': 12.4}, {'connected_gene': 'RNF7', 'score': 12.12}, {'connected_gene': 'GRK7', 'score': 11.12}, {'connected_gene': 'GC03M141866', 'score': 0.39}]
chr3 GH03I141894 141894899 141895068 0.69 [{'connected_gene': 'ATP1B3-AS1', 'score': 11.26}, {'connected_gene': 'GRK7', 'score': 10.85}, {'connected_gene': 'RNF7', 'score': 10.35}, {'connected_gene': 'GC03M141903', 'score': 0.44}, {'connected_gene': 'RNU6-509P', 'score': 0.44}, {'connected_gene': 'GC03P141887', 'score': 0.44}, {'connected_gene': 'ATP1B3', 'score': 0.37}]
chr3 GH03I141707 141707139 141712077 0.92 [{'connected_gene': 'TPT1P3', 'score': 550.77}, {'connected_gene': 'RNF7', 'score': 16.87}, {'connected_gene': 'GRK7', 'score': 6.08}, {'connected_gene': 'LOC646730', 'score': 0.25}]
chr3 GH03I141937 141937241 141938772 0.38 [{'connected_gene': 'ENSG00000279147', 'score': 550.77}, {'connected_gene': 'RNF7', 'score': 11.35}, {'connected_gene': 'GRK7', 'score': 10.31}, {'connected_gene': 'ATP1B3-AS1', 'score': 0.37}]
chr3 GH03I141778 141778156 141778215 0.61 [{'connected_gene': 'GC03P141781', 'score': 550.77}, {'connected_gene': 'GC03P141782', 'score': 550.77}, {'connected_gene': 'GRK7', 'score': 550.31}, {'connected_gene': 'PIR31846', 'score': 0.77}]
chr3 GH03I141807 141807313 141807949 0.46 [{'connected_gene': 'PIR31846', 'score': 0.31}, {'connected_gene': 'LOC105374134', 'score': 0.26}, {'connected_gene': 'GRK7', 'score': 0.22}]