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
ENST00000535681 [[78440947, 78442717], [78444326, 78444834], [78445531, 78445711], [78446999, 78448498]] None
ENST00000306773 [[78440947, 78444834], [78445531, 78445711], [78446999, 78447244], [78449310, 78449518], [78449802, 78450404]] [[78444612, 78444834], [78445531, 78445711], [78446999, 78447244], [78449310, 78449518], [78449802, 78450246]]
ENST00000571100 [[78445702, 78445711], [78446999, 78447244], [78449310, 78449612]] None
ENST00000575212 [[78447213, 78447244], [78449310, 78449518], [78451410, 78451643]] None
NM_002522 [[78440632, 78444834], [78445531, 78445711], [78446999, 78447244], [78449310, 78449518], [78449802, 78450404]] [[78444612, 78444834], [78445531, 78445711], [78446999, 78447244], [78449310, 78449518], [78449802, 78450246]]
Promoter
Chrom Start End Description
chr17 78450398 78450413 CAGE_peak_1_at_NPTX1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I080736 80736739 80739751 1.19 [{'connected_gene': 'HGS', 'score': 10.54}, {'connected_gene': 'RPTOR', 'score': 7.57}, {'connected_gene': 'NPTX1', 'score': 5.74}, {'connected_gene': 'GC17P080792', 'score': 0.23}, {'connected_gene': 'RPL31P7', 'score': 0.12}]
chr17 GH17I080544 80544221 80546504 2.1 [{'connected_gene': 'RPTOR', 'score': 558.15}, {'connected_gene': 'ENSG00000262877', 'score': 21.13}, {'connected_gene': 'EIF4A3', 'score': 17.3}, {'connected_gene': 'ACTG1', 'score': 12.87}, {'connected_gene': 'TEPSIN', 'score': 11.88}, {'connected_gene': 'LOC100130370', 'score': 10.41}, {'connected_gene': 'SGSH', 'score': 10.01}, {'connected_gene': 'NPTX1', 'score': 8.54}, {'connected_gene': 'RPL32P31', 'score': 0.77}, {'connected_gene': 'LOC105371922', 'score': 0.26}]
chr17 GH17I080749 80749991 80753252 1.22 [{'connected_gene': 'RPTOR', 'score': 10.32}, {'connected_gene': 'NPTX1', 'score': 6.76}, {'connected_gene': 'AATK', 'score': 3.53}, {'connected_gene': 'GC17P080792', 'score': 0.26}, {'connected_gene': 'RPL31P7', 'score': 0.11}]
chr17 GH17I080598 80598601 80601117 0.97 [{'connected_gene': 'RPTOR', 'score': 20.45}, {'connected_gene': 'NPTX1', 'score': 13.55}, {'connected_gene': 'RPL31P7', 'score': 0.77}, {'connected_gene': 'LOC105371922', 'score': 0.39}]
chr17 GH17I080771 80771564 80771913 0.31 [{'connected_gene': 'RPTOR', 'score': 7.22}, {'connected_gene': 'NPTX1', 'score': 6.52}, {'connected_gene': 'GC17P080792', 'score': 0.34}, {'connected_gene': 'RPL31P7', 'score': 0.1}]
chr17 GH17I080646 80646963 80648626 0.72 [{'connected_gene': 'RPTOR', 'score': 11.82}, {'connected_gene': 'NPTX1', 'score': 5.11}, {'connected_gene': 'RPL31P7', 'score': 0.26}, {'connected_gene': 'GC17P080792', 'score': 0.11}]
chr17 GH17I080604 80604981 80605925 0.8 [{'connected_gene': 'RPTOR', 'score': 10.99}, {'connected_gene': 'NPTX1', 'score': 7.2}, {'connected_gene': 'RPL31P7', 'score': 0.77}, {'connected_gene': 'GC17P080792', 'score': 0.09}]
chr17 GH17I080645 80645860 80646941 0.76 [{'connected_gene': 'RPTOR', 'score': 9.41}, {'connected_gene': 'NPTX1', 'score': 7.61}, {'connected_gene': 'RPL31P7', 'score': 0.26}, {'connected_gene': 'GC17P080792', 'score': 0.11}]
chr17 GH17I080753 80753547 80756959 0.8 [{'connected_gene': 'RPTOR', 'score': 10.35}, {'connected_gene': 'NPTX1', 'score': 6.34}, {'connected_gene': 'GC17P080792', 'score': 0.28}, {'connected_gene': 'RPL31P7', 'score': 0.1}]
chr17 GH17I080691 80691152 80692380 0.54 [{'connected_gene': 'RPTOR', 'score': 28.36}, {'connected_gene': 'NPTX1', 'score': 16.04}, {'connected_gene': 'RPL31P7', 'score': 0.17}, {'connected_gene': 'GC17P080792', 'score': 0.15}]
chr17 GH17I080717 80717073 80719470 0.38 [{'connected_gene': 'RPTOR', 'score': 10.42}, {'connected_gene': 'NPTX1', 'score': 5.93}, {'connected_gene': 'GC17P080792', 'score': 0.19}, {'connected_gene': 'RPL31P7', 'score': 0.13}]
chr17 GH17I080642 80642991 80644165 0.38 [{'connected_gene': 'RPTOR', 'score': 12.08}, {'connected_gene': 'NPTX1', 'score': 5.76}, {'connected_gene': 'RPL31P7', 'score': 0.26}, {'connected_gene': 'GC17P080792', 'score': 0.11}]
chr17 GH17I080779 80779359 80784242 1.38 [{'connected_gene': 'RPTOR', 'score': 13.74}, {'connected_gene': 'NPTX1', 'score': 13.56}, {'connected_gene': 'GC17P080792', 'score': 0.39}, {'connected_gene': 'RPL31P7', 'score': 0.1}]
chr17 GH17I080671 80671035 80674654 1.3 [{'connected_gene': 'RPTOR', 'score': 8.07}, {'connected_gene': 'NPTX1', 'score': 5.28}, {'connected_gene': 'RPL31P7', 'score': 0.2}, {'connected_gene': 'GC17P080792', 'score': 0.13}]
chr17 GH17I080692 80692962 80697247 1.22 [{'connected_gene': 'RPTOR', 'score': 28.4}, {'connected_gene': 'NPTX1', 'score': 15.97}, {'connected_gene': 'RPL31P7', 'score': 0.16}, {'connected_gene': 'GC17P080792', 'score': 0.15}]
chr17 GH17I080708 80708471 80709398 0.31 [{'connected_gene': 'RPTOR', 'score': 15.76}, {'connected_gene': 'NPTX1', 'score': 15.11}, {'connected_gene': 'ENDOV', 'score': 10.33}, {'connected_gene': 'GC17P080792', 'score': 0.18}, {'connected_gene': 'RPL31P7', 'score': 0.14}]
chr17 GH17I080702 80702424 80705200 0.99 [{'connected_gene': 'RPTOR', 'score': 28.28}, {'connected_gene': 'NPTX1', 'score': 15.97}, {'connected_gene': 'ENDOV', 'score': 10.33}, {'connected_gene': 'GC17P080792', 'score': 0.17}, {'connected_gene': 'RPL31P7', 'score': 0.15}]
chr17 GH17I080485 80485944 80486168 0.42 [{'connected_gene': 'RPTOR', 'score': 1.34}, {'connected_gene': 'NPTX1', 'score': 0.44}, {'connected_gene': 'ENSG00000262000', 'score': 0.31}]
chr17 GH17I080504 80504412 80505840 0.62 [{'connected_gene': 'RPTOR', 'score': 5.36}, {'connected_gene': 'ENSG00000262000', 'score': 0.39}, {'connected_gene': 'NPTX1', 'score': 0.31}]
chr17 GH17I080501 80501314 80502965 1.02 [{'connected_gene': 'RPTOR', 'score': 11.77}, {'connected_gene': 'ENDOV', 'score': 9.98}, {'connected_gene': 'NPTX1', 'score': 5.74}, {'connected_gene': 'ENSG00000262000', 'score': 0.39}]
chr17 GH17I080498 80498241 80498390 0.66 [{'connected_gene': 'RPTOR', 'score': 11.76}, {'connected_gene': 'ENDOV', 'score': 9.99}, {'connected_gene': 'ENSG00000262000', 'score': 0.37}, {'connected_gene': 'NPTX1', 'score': 0.34}]
chr17 GH17I080899 80899421 80899974 0.86 [{'connected_gene': 'NPTX1', 'score': 7.74}, {'connected_gene': 'CHMP6', 'score': 6.31}, {'connected_gene': 'LOC105371921', 'score': 0.44}, {'connected_gene': 'ENSG00000262313', 'score': 0.26}, {'connected_gene': 'RPTOR', 'score': 0.05}]
chr17 GH17I080778 80778593 80779285 0.2 [{'connected_gene': 'NPTX1', 'score': 12.43}, {'connected_gene': 'GC17P080792', 'score': 0.39}, {'connected_gene': 'RPL31P7', 'score': 0.1}, {'connected_gene': 'RPTOR', 'score': 0.07}]
chr17 GH17I080330 80330341 80330461 0.22 [{'connected_gene': 'NPTX1', 'score': 1.92}, {'connected_gene': 'GC17P080334', 'score': 0.77}, {'connected_gene': 'PIR60933', 'score': 0.77}, {'connected_gene': 'ENSG00000262979', 'score': 0.39}, {'connected_gene': 'RNF213', 'score': 0.2}]
chr17 GH17I080724 80724007 80726407 0.76 [{'connected_gene': 'NPTX1', 'score': 15.55}, {'connected_gene': 'RPTOR', 'score': 10.41}, {'connected_gene': 'GC17P080792', 'score': 0.2}, {'connected_gene': 'RPL31P7', 'score': 0.13}]
chr17 GH17I080763 80763349 80763821 0.4 [{'connected_gene': 'NPTX1', 'score': 13.54}, {'connected_gene': 'RPTOR', 'score': 7.34}, {'connected_gene': 'GC17P080792', 'score': 0.31}, {'connected_gene': 'RPL31P7', 'score': 0.1}]
chr17 GH17I080720 80720413 80722105 0.89 [{'connected_gene': 'NPTX1', 'score': 12.81}, {'connected_gene': 'RPTOR', 'score': 10.42}, {'connected_gene': 'GC17P080792', 'score': 0.19}, {'connected_gene': 'RPL31P7', 'score': 0.13}]
chr17 GH17I080785 80785326 80787290 0.71 [{'connected_gene': 'NPTX1', 'score': 12.28}, {'connected_gene': 'RPTOR', 'score': 10.29}, {'connected_gene': 'GC17P080792', 'score': 0.44}, {'connected_gene': 'RPL31P7', 'score': 0.09}]
chr17 GH17I080770 80770352 80771172 0.51 [{'connected_gene': 'NPTX1', 'score': 12.9}, {'connected_gene': 'RPTOR', 'score': 7.22}, {'connected_gene': 'GC17P080792', 'score': 0.34}, {'connected_gene': 'RPL31P7', 'score': 0.1}]
chr17 GH17I080764 80764873 80766934 0.78 [{'connected_gene': 'NPTX1', 'score': 13.74}, {'connected_gene': 'RPTOR', 'score': 7.62}, {'connected_gene': 'GC17P080792', 'score': 0.31}, {'connected_gene': 'RPL31P7', 'score': 0.1}]
chr17 GH17I080746 80746114 80748259 0.46 [{'connected_gene': 'NPTX1', 'score': 12.21}, {'connected_gene': 'RPTOR', 'score': 7.74}, {'connected_gene': 'GC17P080792', 'score': 0.26}, {'connected_gene': 'RPL31P7', 'score': 0.11}]
chr17 GH17I080742 80742179 80745000 1.02 [{'connected_gene': 'NPTX1', 'score': 14.69}, {'connected_gene': 'RPTOR', 'score': 10.34}, {'connected_gene': 'GC17P080792', 'score': 0.25}, {'connected_gene': 'RPL31P7', 'score': 0.11}]
chr17 GH17I080772 80772008 80775769 1.27 [{'connected_gene': 'NPTX1', 'score': 13.41}, {'connected_gene': 'RPTOR', 'score': 10.02}, {'connected_gene': 'GC17P080792', 'score': 0.37}, {'connected_gene': 'RPL31P7', 'score': 0.09}]
chr17 GH17I080678 80678221 80680252 1.17 [{'connected_gene': 'NPTX1', 'score': 16.16}, {'connected_gene': 'RPTOR', 'score': 8.59}, {'connected_gene': 'SGSH', 'score': 3.82}, {'connected_gene': 'RNF213', 'score': 1.9}, {'connected_gene': 'RPL31P7', 'score': 0.18}, {'connected_gene': 'GC17P080792', 'score': 0.14}]
chr17 GH17I080758 80758105 80762876 1.4 [{'connected_gene': 'NPTX1', 'score': 15.21}, {'connected_gene': 'RPTOR', 'score': 10.24}, {'connected_gene': 'TEPSIN', 'score': 1.2}, {'connected_gene': 'GC17P080792', 'score': 0.29}, {'connected_gene': 'RPL31P7', 'score': 0.1}]
chr17 GH17I080811 80811461 80811610 0.72 [{'connected_gene': 'NPTX1', 'score': 11.1}, {'connected_gene': 'RPTOR', 'score': 10.52}, {'connected_gene': 'LOC101928855', 'score': 0.44}, {'connected_gene': 'LOC105371921', 'score': 0.18}]
chr17 GH17I080449 80449537 80451545 0.67 [{'connected_gene': 'NPTX1', 'score': 13.02}, {'connected_gene': 'RPTOR', 'score': 11.51}, {'connected_gene': 'ENSG00000260369', 'score': 0.77}, {'connected_gene': 'MIR4730', 'score': 0.29}]
chr17 GH17I080441 80441201 80441350 0.9 [{'connected_gene': 'NPTX1', 'score': 12.36}, {'connected_gene': 'ENDOV', 'score': 11.69}, {'connected_gene': 'ENSG00000260369', 'score': 0.39}, {'connected_gene': 'MIR4730', 'score': 0.34}]
chr17 GH17I080900 80900032 80902745 0.99 [{'connected_gene': 'NPTX1', 'score': 8.03}, {'connected_gene': 'LOC105371921', 'score': 0.44}, {'connected_gene': 'ENSG00000262313', 'score': 0.26}, {'connected_gene': 'RPTOR', 'score': 0.05}]
chr17 GH17I080474 80474238 80479340 1.61 [{'connected_gene': 'NPTX1', 'score': 555.31}, {'connected_gene': 'GC17P080467', 'score': 0.44}]
chr17 GH17I080491 80491941 80491968 0.56 [{'connected_gene': 'NPTX1', 'score': 0.39}, {'connected_gene': 'ENSG00000262000', 'score': 0.34}]
chr17 GH17I080705 80705846 80707325 0.46 [{'connected_gene': 'ENDOV', 'score': 10.33}, {'connected_gene': 'RPTOR', 'score': 8.54}, {'connected_gene': 'NPTX1', 'score': 4.62}, {'connected_gene': 'GC17P080792', 'score': 0.17}, {'connected_gene': 'RPL31P7', 'score': 0.15}]
chr17 GH17I080889 80889117 80893862 1.37 [{'connected_gene': 'LOC105371921', 'score': 550.77}, {'connected_gene': 'TEPSIN', 'score': 26.6}, {'connected_gene': 'EIF4A3', 'score': 25.65}, {'connected_gene': 'FAAP100', 'score': 24.95}, {'connected_gene': 'HGS', 'score': 24.14}, {'connected_gene': 'CHMP6', 'score': 13.93}, {'connected_gene': 'CEP131', 'score': 11.01}, {'connected_gene': 'RPTOR', 'score': 10.48}, {'connected_gene': 'SLC38A10', 'score': 10.43}, {'connected_gene': 'CCDC137', 'score': 9.8}, {'connected_gene': 'NPTX1', 'score': 7.74}, {'connected_gene': 'ACTG1', 'score': 5.95}, {'connected_gene': 'LOC101928855', 'score': 0.17}]
chr17 GH17I080788 80788113 80796851 1.67 [{'connected_gene': 'GC17P080792', 'score': 550.77}, {'connected_gene': 'HGS', 'score': 11.19}, {'connected_gene': 'CEP131', 'score': 11.17}, {'connected_gene': 'RPTOR', 'score': 10.31}, {'connected_gene': 'TEPSIN', 'score': 9.86}, {'connected_gene': 'FAAP100', 'score': 9.84}, {'connected_gene': 'NPTX1', 'score': 7.02}, {'connected_gene': 'NPLOC4', 'score': 5.63}, {'connected_gene': 'LOC101928855', 'score': 0.39}]
chr17 GH17I080316 80316064 80316343 0.45 [{'connected_gene': 'ENSG00000262979', 'score': 550.77}, {'connected_gene': 'NPTX1', 'score': 2.14}, {'connected_gene': 'GC17P080334', 'score': 0.37}, {'connected_gene': 'PIR60933', 'score': 0.37}, {'connected_gene': 'RNF213', 'score': 0.22}]
chr17 GH17I080453 80453301 80458286 2.05 [{'connected_gene': 'ENSG00000260369', 'score': 550.77}, {'connected_gene': 'CEP131', 'score': 22.43}, {'connected_gene': 'TEPSIN', 'score': 13.64}, {'connected_gene': 'TBC1D16', 'score': 11.47}, {'connected_gene': 'LOC105371925', 'score': 10.61}, {'connected_gene': 'CBX8', 'score': 10.07}, {'connected_gene': 'NPTX1', 'score': 6.54}, {'connected_gene': 'EIF4A3', 'score': 6.4}, {'connected_gene': 'SGSH', 'score': 4.38}, {'connected_gene': 'GAA', 'score': 2.02}, {'connected_gene': 'SLC26A11', 'score': 1.18}, {'connected_gene': 'ENSG00000279273', 'score': 0.44}]

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