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
ENST00000234091 [[8818974, 8819447], [8821620, 8821695], [8821983, 8822643], [8822972, 8823036], [8823814, 8824583]] [[8822295, 8822643], [8822972, 8823029]]
ENST00000396290 [[8822112, 8822643], [8822972, 8823036], [8823814, 8824581]] [[8822295, 8822643], [8822972, 8823029]]
ENST00000331129 [[8822185, 8822643], [8822972, 8823137]] [[8822295, 8822643], [8822972, 8823029]]
ENST00000472142 [[8822909, 8823036], [8823814, 8824161]] None
NM_002166 [[8822112, 8822643], [8822972, 8823036], [8823814, 8824583]] [[8822295, 8822643], [8822972, 8823029]]
Promoter
Chrom Start End Description
chr2 8819174 8819185 CAGE_peak_8_at_ID2_5end
chr2 8819364 8819390 CAGE_peak_2_at_ID2_5end
chr2 8822176 8822196 CAGE_peak_1_at_ID2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I008518 8518318 8521895 1.35 [{'connected_gene': 'ID2', 'score': 4.95}, {'connected_gene': 'ENSG00000231435', 'score': 0.22}, {'connected_gene': 'LINC00299', 'score': 0.12}]
chr2 GH02I008542 8542558 8546999 1.64 [{'connected_gene': 'ID2', 'score': 6.66}, {'connected_gene': 'ENSG00000231435', 'score': 0.29}, {'connected_gene': 'LINC00299', 'score': 0.1}]
chr2 GH02I008408 8408389 8409899 1.11 [{'connected_gene': 'ID2', 'score': 5.7}, {'connected_gene': 'LINC00299', 'score': 0.31}, {'connected_gene': 'ENSG00000231435', 'score': 0.1}]
chr2 GH02I008242 8242844 8243094 0.62 [{'connected_gene': 'ID2', 'score': 5.16}, {'connected_gene': 'GC02M008228', 'score': 0.39}, {'connected_gene': 'LINC00298', 'score': 0.28}, {'connected_gene': 'LINC00299', 'score': 0.11}]
chr2 GH02I008251 8251205 8253082 0.53 [{'connected_gene': 'ID2', 'score': 5.25}, {'connected_gene': 'GC02M008228', 'score': 0.37}, {'connected_gene': 'LINC00298', 'score': 0.31}, {'connected_gene': 'LINC00299', 'score': 0.12}]
chr2 GH02I008229 8229371 8230366 1.32 [{'connected_gene': 'ID2', 'score': 5.01}, {'connected_gene': 'GC02M008228', 'score': 0.77}, {'connected_gene': 'GC02P008182', 'score': 0.25}, {'connected_gene': 'LINC00298', 'score': 0.25}, {'connected_gene': 'LINC00299', 'score': 0.1}]
chr2 GH02I008238 8238808 8240453 1.04 [{'connected_gene': 'ID2', 'score': 6.0}, {'connected_gene': 'GC02M008228', 'score': 0.44}, {'connected_gene': 'LINC00298', 'score': 0.28}, {'connected_gene': 'LINC00299', 'score': 0.11}]
chr2 GH02I008192 8192858 8194380 1.01 [{'connected_gene': 'ID2', 'score': 1.47}, {'connected_gene': 'GC02P008182', 'score': 0.39}, {'connected_gene': 'GC02M008228', 'score': 0.28}, {'connected_gene': 'LINC00298', 'score': 0.18}, {'connected_gene': 'LINC00299', 'score': 0.08}]
chr2 GH02I008244 8244766 8244899 0.38 [{'connected_gene': 'ID2', 'score': 4.78}, {'connected_gene': 'GC02M008228', 'score': 0.39}, {'connected_gene': 'LINC00298', 'score': 0.29}, {'connected_gene': 'LINC00299', 'score': 0.12}]
chr2 GH02I008217 8217153 8218747 0.81 [{'connected_gene': 'ID2', 'score': 6.03}, {'connected_gene': 'GC02M008228', 'score': 0.39}, {'connected_gene': 'GC02P008182', 'score': 0.28}, {'connected_gene': 'LINC00298', 'score': 0.21}, {'connected_gene': 'LINC00299', 'score': 0.1}]
chr2 GH02I008204 8204637 8205077 0.27 [{'connected_gene': 'ID2', 'score': 6.58}, {'connected_gene': 'GC02P008182', 'score': 0.34}, {'connected_gene': 'GC02M008228', 'score': 0.31}, {'connected_gene': 'LINC00298', 'score': 0.19}, {'connected_gene': 'LINC00299', 'score': 0.1}]
chr2 GH02I008281 8281061 8282876 0.65 [{'connected_gene': 'ID2', 'score': 1.36}, {'connected_gene': 'LINC00298', 'score': 0.77}, {'connected_gene': 'LINC00299', 'score': 0.15}]
chr2 GH02I008219 8219954 8220126 0.23 [{'connected_gene': 'ID2', 'score': 4.18}, {'connected_gene': 'GC02M008228', 'score': 0.39}, {'connected_gene': 'GC02P008182', 'score': 0.28}, {'connected_gene': 'LINC00298', 'score': 0.22}, {'connected_gene': 'LINC00299', 'score': 0.1}]
chr2 GH02I008235 8234280 8234734 1 [{'connected_gene': 'ID2', 'score': 6.93}, {'connected_gene': 'GC02M008228', 'score': 0.77}, {'connected_gene': 'LINC00298', 'score': 0.26}, {'connected_gene': 'LINC00299', 'score': 0.11}]
chr2 GH02I008223 8223469 8223602 0.41 [{'connected_gene': 'ID2', 'score': 5.79}, {'connected_gene': 'GC02M008228', 'score': 0.44}, {'connected_gene': 'GC02P008182', 'score': 0.26}, {'connected_gene': 'LINC00298', 'score': 0.23}, {'connected_gene': 'LINC00299', 'score': 0.1}]
chr2 GH02I008248 8248562 8249067 0.52 [{'connected_gene': 'ID2', 'score': 3.83}, {'connected_gene': 'GC02M008228', 'score': 0.37}, {'connected_gene': 'LINC00298', 'score': 0.31}, {'connected_gene': 'LINC00299', 'score': 0.12}]
chr2 GH02I008243 8243921 8244295 0.27 [{'connected_gene': 'ID2', 'score': 3.47}, {'connected_gene': 'GC02M008228', 'score': 0.39}, {'connected_gene': 'LINC00298', 'score': 0.29}, {'connected_gene': 'LINC00299', 'score': 0.12}]
chr2 GH02I008315 8315502 8316355 0.66 [{'connected_gene': 'ID2', 'score': 6.8}, {'connected_gene': 'LINC00298', 'score': 0.28}, {'connected_gene': 'LINC00299', 'score': 0.2}]
chr2 GH02I008585 8585783 8586614 0.75 [{'connected_gene': 'ID2', 'score': 6.87}, {'connected_gene': 'LINC01814', 'score': 0.77}, {'connected_gene': 'GC02M008597', 'score': 0.39}]
chr2 GH02I008533 8533924 8541060 1.65 [{'connected_gene': 'ID2', 'score': 15.51}, {'connected_gene': 'ID2-AS1', 'score': 11.87}, {'connected_gene': 'KIDINS220', 'score': 1.34}, {'connected_gene': 'ENSG00000231435', 'score': 0.28}, {'connected_gene': 'LINC00299', 'score': 0.1}]
chr2 GH02I008455 8455459 8459524 1.3 [{'connected_gene': 'ID2', 'score': 12.59}, {'connected_gene': 'ID2-AS1', 'score': 11.11}, {'connected_gene': 'KIDINS220', 'score': 1.78}, {'connected_gene': 'LINC00299', 'score': 0.19}, {'connected_gene': 'ENSG00000231435', 'score': 0.13}]
chr2 GH02I008551 8551845 8552055 0.91 [{'connected_gene': 'ID2', 'score': 11.97}, {'connected_gene': 'ID2-AS1', 'score': 11.97}, {'connected_gene': 'ENSG00000231435', 'score': 0.34}, {'connected_gene': 'LINC00299', 'score': 0.1}]
chr2 GH02I008499 8499915 8501631 1.46 [{'connected_gene': 'ID2', 'score': 14.68}, {'connected_gene': 'ID2-AS1', 'score': 10.78}, {'connected_gene': 'ENSG00000231435', 'score': 0.19}, {'connected_gene': 'LINC00299', 'score': 0.13}]
chr2 GH02I008469 8469771 8470152 1.06 [{'connected_gene': 'ID2', 'score': 10.54}, {'connected_gene': 'ID2-AS1', 'score': 10.54}, {'connected_gene': 'LINC00299', 'score': 0.17}, {'connected_gene': 'ENSG00000231435', 'score': 0.14}]
chr2 GH02I008484 8484671 8491574 1.48 [{'connected_gene': 'ID2', 'score': 13.03}, {'connected_gene': 'ID2-AS1', 'score': 11.71}, {'connected_gene': 'ENSG00000231435', 'score': 0.17}, {'connected_gene': 'LINC00299', 'score': 0.15}]
chr2 GH02I008467 8467716 8467851 0.22 [{'connected_gene': 'ID2', 'score': 10.54}, {'connected_gene': 'ID2-AS1', 'score': 10.54}, {'connected_gene': 'LINC00299', 'score': 0.18}, {'connected_gene': 'ENSG00000231435', 'score': 0.14}]
chr2 GH02I008471 8471053 8483908 1.48 [{'connected_gene': 'ID2', 'score': 11.71}, {'connected_gene': 'ID2-AS1', 'score': 11.71}, {'connected_gene': 'LINC00299', 'score': 0.16}, {'connected_gene': 'ENSG00000231435', 'score': 0.15}]
chr2 GH02I008312 8312190 8314201 1.56 [{'connected_gene': 'ID2', 'score': 15.72}, {'connected_gene': 'ID2-AS1', 'score': 11.08}, {'connected_gene': 'LINC00298', 'score': 0.28}, {'connected_gene': 'LINC00299', 'score': 0.19}]
chr2 GH02I008154 8154969 8155455 0.63 [{'connected_gene': 'ID2', 'score': 9.59}, {'connected_gene': 'ID2-AS1', 'score': 9.59}, {'connected_gene': 'PIR56030', 'score': 0.37}, {'connected_gene': 'ENSG00000229740', 'score': 0.37}, {'connected_gene': 'GC02M008173', 'score': 0.37}, {'connected_gene': 'LINC00298', 'score': 0.13}, {'connected_gene': 'LINC00299', 'score': 0.07}]
chr2 GH02I008300 8300955 8304314 1.56 [{'connected_gene': 'ID2', 'score': 17.73}, {'connected_gene': 'ID2-AS1', 'score': 11.86}, {'connected_gene': 'LINC00298', 'score': 0.34}, {'connected_gene': 'LINC00299', 'score': 0.18}]
chr2 GH02I008309 8309634 8311620 0.94 [{'connected_gene': 'ID2', 'score': 11.08}, {'connected_gene': 'ID2-AS1', 'score': 11.08}, {'connected_gene': 'LINC00298', 'score': 0.29}, {'connected_gene': 'LINC00299', 'score': 0.19}]
chr2 GH02I008298 8298887 8299145 0.82 [{'connected_gene': 'ID2', 'score': 17.79}, {'connected_gene': 'ID2-AS1', 'score': 11.86}, {'connected_gene': 'LINC00298', 'score': 0.34}, {'connected_gene': 'LINC00299', 'score': 0.18}]
chr2 GH02I008299 8298600 8298801 0.2 [{'connected_gene': 'ID2', 'score': 11.86}, {'connected_gene': 'ID2-AS1', 'score': 11.86}, {'connected_gene': 'LINC00298', 'score': 0.34}, {'connected_gene': 'LINC00299', 'score': 0.18}]
chr2 GH02I008645 8644000 8644400 0.38 [{'connected_gene': 'ID2', 'score': 11.95}, {'connected_gene': 'ID2-AS1', 'score': 11.93}, {'connected_gene': 'LOC105373411', 'score': 0.34}, {'connected_gene': 'PIR42179', 'score': 0.31}]
chr2 GH02I008615 8615157 8616892 0.94 [{'connected_gene': 'ID2', 'score': 11.62}, {'connected_gene': 'ID2-AS1', 'score': 11.61}, {'connected_gene': 'LOC105373411', 'score': 0.44}, {'connected_gene': 'GC02P008604', 'score': 0.39}]
chr2 GH02I008607 8607332 8613339 1.36 [{'connected_gene': 'ID2', 'score': 11.99}, {'connected_gene': 'ID2-AS1', 'score': 11.98}, {'connected_gene': 'GC02P008604', 'score': 0.44}, {'connected_gene': 'LOC105373411', 'score': 0.39}]
chr2 GH02I008605 8605683 8606904 0.98 [{'connected_gene': 'ID2', 'score': 12.06}, {'connected_gene': 'ID2-AS1', 'score': 12.05}, {'connected_gene': 'GC02P008604', 'score': 0.77}, {'connected_gene': 'LOC105373411', 'score': 0.37}]
chr2 GH02I008638 8638152 8638892 0.31 [{'connected_gene': 'ID2', 'score': 12.52}, {'connected_gene': 'ID2-AS1', 'score': 12.52}, {'connected_gene': 'LOC105373411', 'score': 0.37}, {'connected_gene': 'PIR42179', 'score': 0.28}]
chr2 GH02I008632 8632591 8635170 1.51 [{'connected_gene': 'ID2', 'score': 11.58}, {'connected_gene': 'ID2-AS1', 'score': 11.57}, {'connected_gene': 'LOC105373411', 'score': 0.39}, {'connected_gene': 'PIR42179', 'score': 0.26}]
chr2 GH02I008623 8623894 8629967 1.63 [{'connected_gene': 'ID2', 'score': 11.85}, {'connected_gene': 'ID2-AS1', 'score': 11.85}, {'connected_gene': 'LOC105373411', 'score': 0.77}, {'connected_gene': 'PIR42179', 'score': 0.25}]
chr2 GH02I008656 8656391 8656560 0.88 [{'connected_gene': 'ID2', 'score': 12.42}, {'connected_gene': 'ID2-AS1', 'score': 12.39}, {'connected_gene': 'PIR42179', 'score': 0.37}, {'connected_gene': 'LOC105373411', 'score': 0.29}]
chr2 GH02I008644 8644480 8645227 0.69 [{'connected_gene': 'ID2', 'score': 11.95}, {'connected_gene': 'ID2-AS1', 'score': 11.93}, {'connected_gene': 'LOC105373411', 'score': 0.34}, {'connected_gene': 'PIR42179', 'score': 0.31}]
chr2 GH02I008641 8641264 8643461 0.51 [{'connected_gene': 'ID2', 'score': 12.53}, {'connected_gene': 'ID2-AS1', 'score': 12.53}, {'connected_gene': 'LOC105373411', 'score': 0.37}, {'connected_gene': 'PIR42179', 'score': 0.29}]
chr2 GH02I008578 8578611 8578760 0.46 [{'connected_gene': 'ID2', 'score': 12.09}, {'connected_gene': 'ID2-AS1', 'score': 12.09}, {'connected_gene': 'ENSG00000231435', 'score': 0.77}, {'connected_gene': 'LINC01814', 'score': 0.44}]
chr2 GH02I008276 8276061 8276308 0.26 [{'connected_gene': 'LINC00298', 'score': 550.77}, {'connected_gene': 'ID2', 'score': 4.9}, {'connected_gene': 'GC02M008228', 'score': 0.26}, {'connected_gene': 'LINC00299', 'score': 0.14}]
chr2 GH02I008620 8620484 8621774 0.76 [{'connected_gene': 'LOC105373411', 'score': 550.77}, {'connected_gene': 'ID2', 'score': 11.65}, {'connected_gene': 'ID2-AS1', 'score': 11.63}, {'connected_gene': 'GC02P008604', 'score': 0.37}]
chr2 GH02I008582 8582202 8584927 1.34 [{'connected_gene': 'LINC01814', 'score': 584.93}, {'connected_gene': 'CPSF3', 'score': 14.74}, {'connected_gene': 'ID2', 'score': 12.03}, {'connected_gene': 'ID2-AS1', 'score': 12.03}, {'connected_gene': 'ENSG00000239300', 'score': 9.98}, {'connected_gene': 'ENSG00000231435', 'score': 0.44}]
chr2 GH02I008602 8602911 8603201 1.36 [{'connected_gene': 'SNRPEP5', 'score': 550.77}, {'connected_gene': 'GC02P008604', 'score': 550.77}, {'connected_gene': 'ID2', 'score': 3.76}, {'connected_gene': 'GC02M008597', 'score': 0.44}, {'connected_gene': 'LOC105373411', 'score': 0.37}]
chr2 GH02I008675 8675546 8686460 2.63 [{'connected_gene': 'ID2-AS1', 'score': 557.13}, {'connected_gene': 'ID2', 'score': 550.77}, {'connected_gene': 'LOC105373412', 'score': 550.77}, {'connected_gene': 'ENSG00000239300', 'score': 16.49}, {'connected_gene': 'CPSF3', 'score': 16.11}]
chr2 GH02I008659 8659559 8659799 0.93 [{'connected_gene': 'ID2-AS1', 'score': 12.42}, {'connected_gene': 'ID2', 'score': 4.44}, {'connected_gene': 'PIR42179', 'score': 0.39}, {'connected_gene': 'LOC105373411', 'score': 0.28}]
chr2 GH02I008635 8635913 8637719 0.72 [{'connected_gene': 'ID2-AS1', 'score': 18.11}, {'connected_gene': 'ID2', 'score': 12.52}, {'connected_gene': 'LOC105373411', 'score': 0.39}, {'connected_gene': 'PIR42179', 'score': 0.28}]
chr2 GH02I008232 8232039 8232094 0.22 [{'connected_gene': 'GC02M008228', 'score': 550.77}, {'connected_gene': 'ID2', 'score': 4.12}, {'connected_gene': 'GC02P008182', 'score': 0.25}, {'connected_gene': 'LINC00298', 'score': 0.25}, {'connected_gene': 'LINC00299', 'score': 0.1}]
chr2 GH02I008676 8675132 8675521 0.69 [{'connected_gene': 'PIR42179', 'score': 550.77}, {'connected_gene': 'ID2', 'score': 0.77}, {'connected_gene': 'ID2-AS1', 'score': 0.44}]
chr2 GH02I008571 8571337 8576400 1.64 [{'connected_gene': 'ENSG00000231435', 'score': 550.77}, {'connected_gene': 'LINC01814', 'score': 29.14}, {'connected_gene': 'ID2', 'score': 12.09}, {'connected_gene': 'ID2-AS1', 'score': 12.09}, {'connected_gene': 'LINC00299', 'score': 0.08}]
chr2 GH02I008576 8576601 8577341 0.95 [{'connected_gene': 'ENSG00000231435', 'score': 550.77}, {'connected_gene': 'LINC01814', 'score': 32.96}, {'connected_gene': 'ID2', 'score': 12.09}, {'connected_gene': 'ID2-AS1', 'score': 12.09}]

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