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
NR_110563 [[94830654, 94830925], [94832380, 94833039]] None
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 GH03I143118 143118593 143124105 1.98 [{'connected_gene': 'CHST2', 'score': 559.26}, {'connected_gene': 'U2SURP', 'score': 31.51}, {'connected_gene': 'XRN1', 'score': 27.46}, {'connected_gene': 'ATR', 'score': 23.82}, {'connected_gene': 'PBX2P1', 'score': 13.24}, {'connected_gene': 'GK5', 'score': 10.33}, {'connected_gene': 'ENSG00000241679', 'score': 9.2}, {'connected_gene': 'LOC105374137', 'score': 0.39}]
chr3 GH03I141962 141962679 141962808 0.74 [{'connected_gene': 'XRN1', 'score': 18.28}, {'connected_gene': 'RASA2', 'score': 12.31}, {'connected_gene': 'YWHAQP6', 'score': 11.78}, {'connected_gene': 'ATR', 'score': 10.9}, {'connected_gene': 'GK5', 'score': 10.37}, {'connected_gene': 'PIR46950', 'score': 0.39}, {'connected_gene': 'RPL19P6', 'score': 0.18}, {'connected_gene': 'TFDP2', 'score': 0.09}]
chr3 GH03I142444 142444927 142449105 2.36 [{'connected_gene': 'XRN1', 'score': 573.18}, {'connected_gene': 'PBX2P1', 'score': 13.42}, {'connected_gene': 'ATR', 'score': 12.85}, {'connected_gene': 'RNU1-100P', 'score': 11.2}, {'connected_gene': 'U2SURP', 'score': 10.94}, {'connected_gene': 'RASA2', 'score': 10.85}, {'connected_gene': 'GC03M142421', 'score': 0.31}]
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 GH03I142594 142594894 142598741 2.07 [{'connected_gene': 'PLS1', 'score': 556.45}, {'connected_gene': 'ATR', 'score': 7.11}, {'connected_gene': 'XRN1', 'score': 4.91}, {'connected_gene': 'PLS1-AS1', 'score': 0.22}, {'connected_gene': 'LOC105374136', 'score': 0.21}]
chr3 GH03I142618 142618228 142619868 0.84 [{'connected_gene': 'PLS1', 'score': 17.7}, {'connected_gene': 'RNA5SP143', 'score': 11.63}, {'connected_gene': 'ATR', 'score': 6.64}, {'connected_gene': 'XRN1', 'score': 5.75}, {'connected_gene': 'PLS1-AS1', 'score': 0.28}, {'connected_gene': 'LOC105374136', 'score': 0.28}]
chr3 GH03I142662 142662762 142666373 0.54 [{'connected_gene': 'PLS1', 'score': 11.4}, {'connected_gene': 'RNA5SP143', 'score': 11.39}, {'connected_gene': 'ATR', 'score': 6.0}, {'connected_gene': 'GC03P142674', 'score': 0.44}, {'connected_gene': 'LOC105374136', 'score': 0.44}]
chr3 GH03I142647 142647692 142648404 0.67 [{'connected_gene': 'PLS1', 'score': 10.69}, {'connected_gene': 'RNA5SP143', 'score': 10.68}, {'connected_gene': 'ATR', 'score': 8.3}, {'connected_gene': 'PLS1-AS1', 'score': 0.44}, {'connected_gene': 'LOC105374136', 'score': 0.44}]
chr14 GH14I094384 94384034 94399250 2.24 [{'connected_gene': 'SERPINA1', 'score': 569.87}, {'connected_gene': 'IFI27L2', 'score': 14.34}, {'connected_gene': 'SERPINA11', 'score': 11.67}, {'connected_gene': 'SERPINA9', 'score': 10.93}, {'connected_gene': 'ENSG00000256357', 'score': 10.9}, {'connected_gene': 'SERPINA2', 'score': 7.12}]
chr14 GH14I094364 94364164 94364386 0.4 [{'connected_gene': 'SERPINA1', 'score': 3.25}, {'connected_gene': 'SERPINA2', 'score': 0.77}, {'connected_gene': 'SERPINA6', 'score': 0.26}]
chr14 GH14I094354 94354671 94355943 1.09 [{'connected_gene': 'SERPINA1', 'score': 5.89}, {'connected_gene': 'SERPINA12', 'score': 1.38}, {'connected_gene': 'SERPINA2', 'score': 0.39}, {'connected_gene': 'SERPINA6', 'score': 0.29}]
chr3 GH03I143182 143182737 143184236 1.3 [{'connected_gene': 'PBX2P1', 'score': 13.83}, {'connected_gene': 'XRN1', 'score': 13.3}, {'connected_gene': 'ATR', 'score': 12.76}, {'connected_gene': 'U2SURP', 'score': 10.98}, {'connected_gene': 'ENSG00000240888', 'score': 0.12}]
chr3 GH03I142849 142849648 142851600 1.35 [{'connected_gene': 'PBX2P1', 'score': 13.66}, {'connected_gene': 'XRN1', 'score': 12.69}, {'connected_gene': 'PCOLCE2', 'score': 11.36}, {'connected_gene': 'GK5', 'score': 11.23}, {'connected_gene': 'ATR', 'score': 10.38}, {'connected_gene': 'LOC100507389', 'score': 10.36}, {'connected_gene': 'RPL8P3', 'score': 0.34}]
chr3 GH03I141874 141874800 141879492 2.01 [{'connected_gene': 'ATP1B3', 'score': 558.84}, {'connected_gene': 'XRN1', 'score': 26.88}, {'connected_gene': 'RASA2', 'score': 18.91}, {'connected_gene': 'ATR', 'score': 12.76}, {'connected_gene': 'GK5', 'score': 7.84}, {'connected_gene': 'GC03P141887', 'score': 0.39}]
chr3 GH03I143524 143524646 143530365 0.74 [{'connected_gene': 'ATR', 'score': 9.74}, {'connected_gene': 'CHST2', 'score': 9.61}, {'connected_gene': 'GC03M143519', 'score': 0.77}, {'connected_gene': 'GC03P143544', 'score': 0.37}, {'connected_gene': 'SLC9A9', 'score': 0.05}]
chr14 GH14I094341 94341452 94343195 1.36 [{'connected_gene': 'SERPINA2', 'score': 9.52}, {'connected_gene': 'PPP4R4', 'score': 7.54}, {'connected_gene': 'SERPINA1', 'score': 3.92}, {'connected_gene': 'SERPINA6', 'score': 0.37}]
chr14 GH14I094344 94344768 94347323 0.94 [{'connected_gene': 'SERPINA2', 'score': 8.92}, {'connected_gene': 'DDX24', 'score': 4.94}, {'connected_gene': 'SERPINA6', 'score': 0.34}]
chr14 GH14I094338 94338178 94338630 0.31 [{'connected_gene': 'SERPINA2', 'score': 10.41}, {'connected_gene': 'ENSG00000256357', 'score': 9.96}, {'connected_gene': 'SERPINA1', 'score': 5.69}, {'connected_gene': 'SERPINA6', 'score': 0.37}]
chr14 GH14I094366 94366644 94368974 0.6 [{'connected_gene': 'SERPINA2', 'score': 557.8}, {'connected_gene': 'SERPINA1', 'score': 11.82}, {'connected_gene': 'SERPINA9', 'score': 10.66}, {'connected_gene': 'DDX24', 'score': 5.18}]
chr3 GH03I142576 142576713 142580149 2.12 [{'connected_gene': 'ATR', 'score': 557.36}, {'connected_gene': 'PBX2P1', 'score': 35.79}, {'connected_gene': 'XRN1', 'score': 30.35}, {'connected_gene': 'GK5', 'score': 10.88}, {'connected_gene': 'U2SURP', 'score': 10.23}, {'connected_gene': 'SUCLG2P1', 'score': 0.25}]
chr3 GH03I142575 142575201 142575400 0.2 [{'connected_gene': 'ATR', 'score': 0.77}, {'connected_gene': 'SUCLG2P1', 'score': 0.26}]
chr3 GH03I142574 142574764 142575000 0.76 [{'connected_gene': 'ATR', 'score': 0.77}, {'connected_gene': 'SUCLG2P1', 'score': 0.26}]
chr3 GH03I142601 142601585 142604011 0.31 [{'connected_gene': 'ATR', 'score': 17.24}, {'connected_gene': 'RPL6P9', 'score': 10.82}, {'connected_gene': 'XRN1', 'score': 7.45}, {'connected_gene': 'PLS1', 'score': 6.13}, {'connected_gene': 'PLS1-AS1', 'score': 0.23}, {'connected_gene': 'LOC105374136', 'score': 0.23}]
chr14 GH14I094334 94334964 94335133 0.65 [{'connected_gene': 'SERPINA9', 'score': 10.45}, {'connected_gene': 'ENSG00000256357', 'score': 10.41}, {'connected_gene': 'SERPINA2', 'score': 10.12}, {'connected_gene': 'SERPINA6', 'score': 0.39}]
chr14 GH14I094375 94375704 94375853 0.76 [{'connected_gene': 'SERPINA9', 'score': 10.64}, {'connected_gene': 'ENSG00000256357', 'score': 10.47}, {'connected_gene': 'SERPINA2', 'score': 0.44}, {'connected_gene': 'SERPINA1', 'score': 0.39}]
chr3 GH03I142222 142222600 142226200 2.03 [{'connected_gene': 'GK5', 'score': 559.8}, {'connected_gene': 'U2SURP', 'score': 20.74}, {'connected_gene': 'PBX2P1', 'score': 13.42}, {'connected_gene': 'XRN1', 'score': 13.35}, {'connected_gene': 'ATR', 'score': 12.78}, {'connected_gene': 'TRPC1', 'score': 12.54}, {'connected_gene': 'RASA2', 'score': 10.85}, {'connected_gene': 'TFDP2', 'score': 0.19}]
chr14 GH14I094360 94360544 94363766 0.83 [{'connected_gene': 'DICER1', 'score': 11.56}, {'connected_gene': 'SERPINA2', 'score': 9.9}, {'connected_gene': 'DDX24', 'score': 5.56}, {'connected_gene': 'IFI27', 'score': 4.93}, {'connected_gene': 'SERPINA6', 'score': 0.28}]
chr3 GH03I143442 143442454 143445873 1.57 [{'connected_gene': 'U2SURP', 'score': 22.76}, {'connected_gene': 'ATR', 'score': 12.83}, {'connected_gene': 'XRN1', 'score': 10.16}, {'connected_gene': 'CHST2', 'score': 9.59}, {'connected_gene': 'GC03M143367', 'score': 0.39}, {'connected_gene': 'SLC9A9-AS2', 'score': 0.21}, {'connected_gene': 'SLC9A9', 'score': 0.05}]
chr3 GH03I142962 142962186 142964508 1.89 [{'connected_gene': 'U2SURP', 'score': 563.18}, {'connected_gene': 'PAQR9', 'score': 550.77}, {'connected_gene': 'ATR', 'score': 11.03}, {'connected_gene': 'GC03P142958', 'score': 0.77}, {'connected_gene': 'PAQR9-AS1', 'score': 0.77}]
chr3 GH03I142997 142997309 143003533 2.3 [{'connected_gene': 'U2SURP', 'score': 568.2}, {'connected_gene': 'LOC100289361', 'score': 550.77}, {'connected_gene': 'XRN1', 'score': 34.43}, {'connected_gene': 'PBX2P1', 'score': 27.86}, {'connected_gene': 'ATR', 'score': 18.15}, {'connected_gene': 'ST13P15', 'score': 11.78}, {'connected_gene': 'PAQR9-AS1', 'score': 11.44}, {'connected_gene': 'PAQR9', 'score': 11.44}, {'connected_gene': 'TFDP2', 'score': 11.04}, {'connected_gene': 'LOC100507389', 'score': 10.84}, {'connected_gene': 'PLS1', 'score': 10.45}, {'connected_gene': 'RNA5SP143', 'score': 10.45}, {'connected_gene': 'GC03M142971', 'score': 0.28}]
chr14 GH14I094020 94020847 94023531 0.96 [{'connected_gene': 'IFI27L1', 'score': 15.19}, {'connected_gene': 'CCDC197', 'score': 11.24}, {'connected_gene': 'ASB2', 'score': 11.2}, {'connected_gene': 'DDX24', 'score': 10.37}, {'connected_gene': 'SERPINA2', 'score': 5.06}, {'connected_gene': 'OTUB2', 'score': 0.44}, {'connected_gene': 'GC14M094051', 'score': 0.31}, {'connected_gene': 'GC14M094050', 'score': 0.31}]
chr3 GH03I142499 142499998 142502028 0.63 [{'connected_gene': 'RNU1-100P', 'score': 10.59}, {'connected_gene': 'RNA5SP143', 'score': 10.21}, {'connected_gene': 'PLS1', 'score': 10.2}, {'connected_gene': 'XRN1', 'score': 8.63}, {'connected_gene': 'GC03M142460', 'score': 0.31}, {'connected_gene': 'SUCLG2P1', 'score': 0.29}, {'connected_gene': 'ATR', 'score': 0.18}]
chr3 GH03I142508 142508508 142509487 0.51 [{'connected_gene': 'RNU1-100P', 'score': 10.94}, {'connected_gene': 'RNA5SP143', 'score': 10.32}, {'connected_gene': 'PLS1', 'score': 10.31}, {'connected_gene': 'ATR', 'score': 7.71}, {'connected_gene': 'SUCLG2P1', 'score': 0.34}, {'connected_gene': 'GC03M142460', 'score': 0.28}]
chr3 GH03I142530 142530601 142530800 0.2 [{'connected_gene': 'RNU1-100P', 'score': 10.24}, {'connected_gene': 'SUCLG2P1', 'score': 0.77}, {'connected_gene': 'ATR', 'score': 0.25}, {'connected_gene': 'GC03M142460', 'score': 0.22}]
chr3 GH03I143084 143084699 143085610 1.43 [{'connected_gene': 'LOC105374138', 'score': 550.77}, {'connected_gene': 'PBX2P1', 'score': 16.62}, {'connected_gene': 'XRN1', 'score': 13.3}, {'connected_gene': 'ATR', 'score': 12.76}, {'connected_gene': 'U2SURP', 'score': 11.03}, {'connected_gene': 'ENSG00000243733', 'score': 0.31}]
chr3 GH03I142613 142613187 142615003 0.43 [{'connected_gene': 'RNA5SP143', 'score': 12.38}, {'connected_gene': 'ATR', 'score': 6.84}, {'connected_gene': 'PLS1', 'score': 5.63}, {'connected_gene': 'PLS1-AS1', 'score': 0.26}, {'connected_gene': 'LOC105374136', 'score': 0.26}]
chr14 GH14I094339 94339801 94341363 0.89 [{'connected_gene': 'ENSG00000256357', 'score': 9.96}, {'connected_gene': 'SERPINA6', 'score': 0.37}, {'connected_gene': 'SERPINA2', 'score': 0.31}]
chr14 GH14I094316 94316518 94318059 0.76 [{'connected_gene': 'ENSG00000256357', 'score': 10.08}, {'connected_gene': 'SERPINA2', 'score': 6.87}, {'connected_gene': 'SERPINA6', 'score': 0.44}, {'connected_gene': 'SERPINA10', 'score': 0.34}]
chr14 GH14I094373 94373071 94375363 1.04 [{'connected_gene': 'ENSG00000256357', 'score': 10.85}, {'connected_gene': 'SERPINA9', 'score': 10.67}, {'connected_gene': 'SERPINA2', 'score': 7.46}, {'connected_gene': 'SERPINA1', 'score': 6.68}]
chr14 GH14I094376 94376218 94377561 1 [{'connected_gene': 'ENSG00000256357', 'score': 10.64}, {'connected_gene': 'SERPINA9', 'score': 10.64}, {'connected_gene': 'SERPINA2', 'score': 6.69}, {'connected_gene': 'SERPINA1', 'score': 0.39}]

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