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
ENST00000605788 [[103911932, 103912287], [103916775, 103916831], [103916945, 103917085], [103917187, 103917312], [103917805, 103917971], [103918949, 103919065], [103919189, 103919325], [103919652, 103919781], [103919989, 103920100], [103920208, 103920850], [103921312, 103921419], [103921589, 103921682], [103921867, 103923623]] [[103912167, 103912287], [103916775, 103916831], [103916945, 103917085], [103917187, 103917312], [103917805, 103917971], [103918949, 103919065], [103919189, 103919325], [103919652, 103919781], [103919989, 103920100], [103920208, 103920850], [103921312, 103921419], [103921589, 103921682], [103921867, 103922026]]
ENST00000405356 [[103911932, 103912287], [103916775, 103916831], [103916945, 103917085], [103917187, 103917312], [103917805, 103917971], [103918949, 103919095], [103919189, 103919325], [103919652, 103919781], [103919989, 103920100], [103920208, 103920850], [103921312, 103921419], [103921589, 103921682], [103921867, 103923627]] [[103912167, 103912287], [103916775, 103916831], [103916945, 103917085], [103917187, 103917312], [103917805, 103917971], [103918949, 103919095], [103919189, 103919325], [103919652, 103919781], [103919989, 103920100], [103920208, 103920850], [103921312, 103921419], [103921589, 103921682], [103921867, 103922026]]
ENST00000464969 [[103912151, 103912287], [103916775, 103916831], [103917205, 103917312], [103917805, 103917971], [103918949, 103919065], [103919189, 103919325], [103919652, 103919781], [103919989, 103920100], [103920208, 103920850], [103921312, 103921419], [103921589, 103921682], [103921867, 103922356]] [[103912167, 103912287], [103916775, 103916831], [103917205, 103917251]]
ENST00000603742 [[103912151, 103912287], [103916775, 103916831], [103917205, 103917312], [103917805, 103917971], [103918949, 103919065], [103919189, 103919325], [103919652, 103919781], [103919989, 103920100], [103920208, 103920850], [103921312, 103921419], [103921589, 103921682], [103921867, 103922356]] [[103919309, 103919325], [103919652, 103919781], [103919989, 103920100], [103920208, 103920850], [103921312, 103921419], [103921589, 103921682], [103921867, 103922026]]
ENST00000488254 [[103912160, 103912287], [103916775, 103916831], [103916942, 103917085], [103917187, 103917312], [103917805, 103917971], [103918949, 103919065], [103919189, 103919325], [103919652, 103919781], [103919989, 103920100], [103920208, 103920850], [103921312, 103921419], [103921589, 103921682], [103921867, 103922357]] [[103912167, 103912287], [103916775, 103916831], [103916942, 103917085], [103917187, 103917312], [103917805, 103917971], [103918949, 103919065], [103919189, 103919325], [103919652, 103919781], [103919989, 103920100], [103920208, 103920850], [103921312, 103921419], [103921589, 103921682], [103921867, 103922026]]
ENST00000603946 [[103912160, 103912287], [103918949, 103919065], [103919189, 103919325], [103919652, 103919781], [103919989, 103920100], [103920208, 103920850], [103921312, 103921419], [103921589, 103921682], [103921867, 103923623]] [[103912167, 103912287], [103918949, 103918970]]
ENST00000461421 [[103912165, 103912287], [103917805, 103917971], [103918949, 103919065], [103919189, 103919325], [103919652, 103919781], [103920208, 103920316]] [[103912167, 103912287], [103917805, 103917971], [103918949, 103919065], [103919189, 103919325], [103919652, 103919781], [103920208, 103920316]]
ENST00000476468 [[103912169, 103912287], [103916945, 103917085], [103917187, 103917312], [103917805, 103917971], [103918949, 103919065], [103919189, 103919325], [103919652, 103919695]] [[103912169, 103912287], [103916945, 103917085], [103917187, 103917312], [103917805, 103917971], [103918949, 103919065], [103919189, 103919325], [103919652, 103919695]]
ENST00000370007 [[103912171, 103912287], [103916775, 103916831], [103916945, 103917085], [103917187, 103917312], [103917805, 103917971], [103918949, 103919095], [103919189, 103919325], [103919652, 103919781], [103919989, 103920100], [103920208, 103920850], [103921312, 103921419], [103921589, 103921682], [103921867, 103923627]] [[103912171, 103912287], [103916775, 103916831], [103916945, 103917085], [103917187, 103917312], [103917805, 103917971], [103918949, 103919095], [103919189, 103919325], [103919652, 103919781], [103919989, 103920100], [103920208, 103920850], [103921312, 103921419], [103921589, 103921682], [103921867, 103922026]]
ENST00000477977 [[103920486, 103920850], [103921312, 103921419], [103921589, 103921682], [103923527, 103923623]] None
NM_004741 [[103911932, 103912287], [103916775, 103916831], [103916945, 103917085], [103917187, 103917312], [103917805, 103917971], [103918949, 103919065], [103919189, 103919325], [103919652, 103919781], [103919989, 103920100], [103920208, 103920850], [103921312, 103921419], [103921589, 103921682], [103921867, 103923628]] [[103912167, 103912287], [103916775, 103916831], [103916945, 103917085], [103917187, 103917312], [103917805, 103917971], [103918949, 103919065], [103919189, 103919325], [103919652, 103919781], [103919989, 103920100], [103920208, 103920850], [103921312, 103921419], [103921589, 103921682], [103921867, 103922026]]
NM_001284388 [[103911932, 103912287], [103916775, 103916831], [103916945, 103917085], [103917187, 103917312], [103917805, 103917971], [103918949, 103919095], [103919189, 103919325], [103919652, 103919781], [103919989, 103920100], [103920208, 103920850], [103921312, 103921419], [103921589, 103921682], [103921867, 103923628]] [[103912167, 103912287], [103916775, 103916831], [103916945, 103917085], [103917187, 103917312], [103917805, 103917971], [103918949, 103919095], [103919189, 103919325], [103919652, 103919781], [103919989, 103920100], [103920208, 103920850], [103921312, 103921419], [103921589, 103921682], [103921867, 103922026]]
NM_001284389 [[103911932, 103912287], [103916775, 103916831], [103916942, 103917085], [103917187, 103917312], [103917805, 103917971], [103918949, 103919065], [103919189, 103919325], [103919652, 103919781], [103919989, 103920100], [103920208, 103920850], [103921312, 103921419], [103921589, 103921682], [103921867, 103923628]] [[103912167, 103912287], [103916775, 103916831], [103916942, 103917085], [103917187, 103917312], [103917805, 103917971], [103918949, 103919065], [103919189, 103919325], [103919652, 103919781], [103919989, 103920100], [103920208, 103920850], [103921312, 103921419], [103921589, 103921682], [103921867, 103922026]]
Promoter
Chrom Start End Description
chr10 103911926 103911967 CAGE_peak_2_at_NOLC1_5end
chr10 103911990 103912019 CAGE_peak_3_at_NOLC1_5end
chr10 103912137 103912159 CAGE_peak_1_at_NOLC1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I102150 102150664 102154098 2.1 [{'connected_gene': 'NOLC1', 'score': 550.77}, {'connected_gene': 'HPS6', 'score': 25.8}, {'connected_gene': 'PPRC1', 'score': 14.77}, {'connected_gene': 'LDB1', 'score': 14.77}, {'connected_gene': 'GBF1', 'score': 13.64}, {'connected_gene': 'POLL', 'score': 9.73}, {'connected_gene': 'ELOVL3', 'score': 0.19}]
chr10 GH10I101442 101442200 101442473 1.2 [{'connected_gene': 'NOLC1', 'score': 22.95}, {'connected_gene': 'ENSG00000272572', 'score': 21.62}, {'connected_gene': 'SEC31B', 'score': 20.39}, {'connected_gene': 'GBF1', 'score': 14.57}, {'connected_gene': 'BTRC', 'score': 13.33}, {'connected_gene': 'KCNIP2-AS1', 'score': 11.96}, {'connected_gene': 'PPRC1', 'score': 10.9}, {'connected_gene': 'LDB1', 'score': 10.3}, {'connected_gene': 'MRPL43', 'score': 10.19}, {'connected_gene': 'PDZD7', 'score': 9.68}, {'connected_gene': 'GC10P101447', 'score': 0.77}, {'connected_gene': 'GC10M101424', 'score': 0.37}]
chr10 GH10I102111 102111944 102123523 2.59 [{'connected_gene': 'LDB1', 'score': 573.75}, {'connected_gene': 'HPS6', 'score': 19.87}, {'connected_gene': 'PPRC1', 'score': 13.82}, {'connected_gene': 'NFKB2', 'score': 13.7}, {'connected_gene': 'NOLC1', 'score': 11.71}, {'connected_gene': 'BORCS7', 'score': 6.22}, {'connected_gene': 'C10orf95', 'score': 4.36}, {'connected_gene': 'KCNIP2-AS1', 'score': 4.19}, {'connected_gene': 'KCNIP2', 'score': 4.08}, {'connected_gene': 'PSD', 'score': 3.0}, {'connected_gene': 'MGEA5', 'score': 2.72}, {'connected_gene': 'FBXL15', 'score': 2.56}, {'connected_gene': 'C10orf76', 'score': 1.88}, {'connected_gene': 'SUFU', 'score': 1.68}, {'connected_gene': 'MFSD13A', 'score': 1.48}, {'connected_gene': 'LOC105378459', 'score': 0.77}, {'connected_gene': 'PIR53149', 'score': 0.44}]
chr10 GH10I101367 101367176 101368644 0.87 [{'connected_gene': 'LZTS2', 'score': 11.46}, {'connected_gene': 'RNU2-43P', 'score': 10.6}, {'connected_gene': 'NOLC1', 'score': 10.58}, {'connected_gene': 'SLF2', 'score': 10.31}, {'connected_gene': 'SEC31B', 'score': 9.95}, {'connected_gene': 'POLL', 'score': 4.6}, {'connected_gene': 'GC10M101365', 'score': 0.77}, {'connected_gene': 'RNU2-59P', 'score': 0.77}, {'connected_gene': 'GC10P101379', 'score': 0.39}, {'connected_gene': 'BTRC', 'score': 0.39}]
chr10 GH10I102347 102347344 102347493 0.56 [{'connected_gene': 'ELOVL3', 'score': 11.57}, {'connected_gene': 'NOLC1', 'score': 10.52}, {'connected_gene': 'NFKB2', 'score': 0.25}, {'connected_gene': 'GC10P102289', 'score': 0.22}, {'connected_gene': 'GBF1', 'score': 0.15}]
chr10 GH10I102195 102195061 102196074 0.31 [{'connected_gene': 'ELOVL3', 'score': 12.01}, {'connected_gene': 'GBF1', 'score': 11.02}, {'connected_gene': 'PITX3', 'score': 11.02}, {'connected_gene': 'PSD', 'score': 9.96}, {'connected_gene': 'FBXL15', 'score': 9.96}, {'connected_gene': 'NOLC1', 'score': 0.26}]
chr10 GH10I102188 102188292 102189988 0.82 [{'connected_gene': 'ELOVL3', 'score': 11.23}, {'connected_gene': 'PITX3', 'score': 10.88}, {'connected_gene': 'GBF1', 'score': 10.87}, {'connected_gene': 'NOLC1', 'score': 0.28}]
chr10 GH10I102197 102197024 102197173 0.52 [{'connected_gene': 'ELOVL3', 'score': 12.01}, {'connected_gene': 'PITX3', 'score': 11.03}, {'connected_gene': 'GBF1', 'score': 11.02}, {'connected_gene': 'PSD', 'score': 9.96}, {'connected_gene': 'FBXL15', 'score': 9.96}, {'connected_gene': 'NOLC1', 'score': 0.26}]
chr10 GH10I102178 102178173 102178514 0.34 [{'connected_gene': 'ELOVL3', 'score': 11.56}, {'connected_gene': 'PPRC1', 'score': 10.75}, {'connected_gene': 'NOLC1', 'score': 0.31}]
chr10 GH10I102641 102641374 102654052 2.57 [{'connected_gene': 'TRIM8', 'score': 558.94}, {'connected_gene': 'SFXN2', 'score': 36.78}, {'connected_gene': 'MFSD13A', 'score': 26.57}, {'connected_gene': 'RPEL1', 'score': 20.57}, {'connected_gene': 'PDCD11', 'score': 17.56}, {'connected_gene': 'AS3MT', 'score': 17.05}, {'connected_gene': 'PPRC1', 'score': 13.79}, {'connected_gene': 'TAF5', 'score': 13.74}, {'connected_gene': 'LDB1', 'score': 11.83}, {'connected_gene': 'ARL3', 'score': 11.44}, {'connected_gene': 'SUFU', 'score': 11.22}, {'connected_gene': 'GBF1', 'score': 11.11}, {'connected_gene': 'HPS6', 'score': 10.67}, {'connected_gene': 'NOLC1', 'score': 10.6}, {'connected_gene': 'C10orf76', 'score': 5.29}, {'connected_gene': 'NFKB2', 'score': 2.63}, {'connected_gene': 'WBP1L', 'score': 1.37}, {'connected_gene': 'ENSG00000272933', 'score': 0.77}, {'connected_gene': 'LOC105378460', 'score': 0.44}, {'connected_gene': 'GC10M102383', 'score': 0.25}, {'connected_gene': 'GC10M102382', 'score': 0.25}]
chr10 GH10I102169 102169201 102170193 1.11 [{'connected_gene': 'GBF1', 'score': 20.45}, {'connected_gene': 'NOLC1', 'score': 11.79}, {'connected_gene': 'ELOVL3', 'score': 11.56}, {'connected_gene': 'HPS6', 'score': 11.08}, {'connected_gene': 'PITX3', 'score': 10.8}, {'connected_gene': 'PPRC1', 'score': 10.78}, {'connected_gene': 'NFKB2', 'score': 10.58}, {'connected_gene': 'PSD', 'score': 10.29}, {'connected_gene': 'FBXL15', 'score': 10.29}]
chr10 GH10I102127 102127374 102128713 0.69 [{'connected_gene': 'HPS6', 'score': 15.25}, {'connected_gene': 'NOLC1', 'score': 11.76}, {'connected_gene': 'LDB1', 'score': 9.31}, {'connected_gene': 'KCNIP2', 'score': 4.37}, {'connected_gene': 'KCNIP2-AS1', 'score': 4.2}, {'connected_gene': 'PPRC1', 'score': 0.77}]
chr10 GH10I102333 102333991 102335501 0.63 [{'connected_gene': 'FBXL15', 'score': 14.93}, {'connected_gene': 'ELOVL3', 'score': 10.88}, {'connected_gene': 'GBF1', 'score': 10.85}, {'connected_gene': 'PITX3', 'score': 10.84}, {'connected_gene': 'NFKB2', 'score': 10.6}, {'connected_gene': 'NOLC1', 'score': 10.2}, {'connected_gene': 'PSD', 'score': 10.12}, {'connected_gene': 'GC10P102289', 'score': 0.25}]
chr10 GH10I102418 102418391 102423500 2.32 [{'connected_gene': 'FBXL15', 'score': 556.03}, {'connected_gene': 'PSD', 'score': 550.77}, {'connected_gene': 'PPRC1', 'score': 37.08}, {'connected_gene': 'PDCD11', 'score': 29.48}, {'connected_gene': 'PCGF6', 'score': 14.25}, {'connected_gene': 'GBF1', 'score': 14.03}, {'connected_gene': 'SFXN2', 'score': 13.69}, {'connected_gene': 'NOLC1', 'score': 10.62}, {'connected_gene': 'TAF5', 'score': 10.14}, {'connected_gene': 'RPEL1', 'score': 10.08}, {'connected_gene': 'HPS6', 'score': 8.83}, {'connected_gene': 'PITX3', 'score': 5.23}, {'connected_gene': 'CUEDC2', 'score': 0.39}, {'connected_gene': 'GC10M102383', 'score': 0.06}, {'connected_gene': 'GC10M102382', 'score': 0.06}]
chr10 GH10I102743 102743084 102745733 2.25 [{'connected_gene': 'WBP1L', 'score': 562.36}, {'connected_gene': 'GC10P102745', 'score': 550.77}, {'connected_gene': 'GC10P102744', 'score': 550.77}, {'connected_gene': 'PDCD11', 'score': 30.75}, {'connected_gene': 'SFXN2', 'score': 29.21}, {'connected_gene': 'AS3MT', 'score': 24.97}, {'connected_gene': 'PCGF6', 'score': 22.86}, {'connected_gene': 'TAF5', 'score': 16.83}, {'connected_gene': 'PPRC1', 'score': 15.1}, {'connected_gene': 'NOLC1', 'score': 13.97}, {'connected_gene': 'CYP17A1', 'score': 11.68}, {'connected_gene': 'PTGES3P4', 'score': 11.67}, {'connected_gene': 'PFN1P11', 'score': 11.67}, {'connected_gene': 'ARL3', 'score': 11.13}, {'connected_gene': 'CNNM2', 'score': 10.07}, {'connected_gene': 'GBF1', 'score': 9.73}, {'connected_gene': 'RNU11-3P', 'score': 8.91}, {'connected_gene': 'RNU6-1231P', 'score': 0.22}]
chr10 GH10I102342 102342256 102344577 0.99 [{'connected_gene': 'PITX3', 'score': 20.12}, {'connected_gene': 'GBF1', 'score': 11.66}, {'connected_gene': 'ELOVL3', 'score': 11.57}, {'connected_gene': 'NOLC1', 'score': 10.52}, {'connected_gene': 'FBXL15', 'score': 10.29}, {'connected_gene': 'PSD', 'score': 10.29}, {'connected_gene': 'C10orf95', 'score': 9.45}, {'connected_gene': 'MFSD13A', 'score': 9.44}, {'connected_gene': 'ACTR1A', 'score': 1.96}, {'connected_gene': 'NFKB2', 'score': 0.23}, {'connected_gene': 'GC10P102289', 'score': 0.23}]
chr10 GH10I101828 101828804 101833162 1.99 [{'connected_gene': 'PPRC1', 'score': 112.1}, {'connected_gene': 'LDB1', 'score': 91.92}, {'connected_gene': 'GBF1', 'score': 71.2}, {'connected_gene': 'LZTS2', 'score': 64.11}, {'connected_gene': 'MRPL43', 'score': 56.79}, {'connected_gene': 'HPS6', 'score': 53.36}, {'connected_gene': 'NOLC1', 'score': 28.51}, {'connected_gene': 'SUFU', 'score': 24.39}, {'connected_gene': 'ENSG00000272572', 'score': 22.79}, {'connected_gene': 'KCNIP2-AS1', 'score': 16.81}, {'connected_gene': 'SFXN2', 'score': 13.66}, {'connected_gene': 'C10orf76', 'score': 11.15}, {'connected_gene': 'KCNIP2', 'score': 10.87}, {'connected_gene': 'SLF2', 'score': 10.29}, {'connected_gene': 'ARL3', 'score': 10.1}, {'connected_gene': 'TWNK', 'score': 10.04}, {'connected_gene': 'NFKB2', 'score': 9.69}, {'connected_gene': 'PDZD7', 'score': 9.66}, {'connected_gene': 'NPM3', 'score': 6.42}, {'connected_gene': 'RPARP-AS1', 'score': 3.8}, {'connected_gene': 'BTRC', 'score': 1.76}, {'connected_gene': 'LOC101927445', 'score': 0.44}, {'connected_gene': 'GC10M101802', 'score': 0.37}]
chr10 GH10I102131 102131824 102135308 2.3 [{'connected_gene': 'PPRC1', 'score': 550.77}, {'connected_gene': 'HPS6', 'score': 15.21}, {'connected_gene': 'NOLC1', 'score': 14.31}, {'connected_gene': 'SFXN2', 'score': 13.66}, {'connected_gene': 'ARL3', 'score': 10.1}, {'connected_gene': 'KCNIP2-AS1', 'score': 4.2}, {'connected_gene': 'BORCS7', 'score': 4.0}, {'connected_gene': 'PIR37499', 'score': 0.44}, {'connected_gene': 'GC10M102134', 'score': 0.39}]
chr10 GH10I102853 102853706 102855201 2.08 [{'connected_gene': 'BORCS7', 'score': 550.77}, {'connected_gene': 'ENSG00000282772', 'score': 550.77}, {'connected_gene': 'BORCS7-ASMT', 'score': 550.77}, {'connected_gene': 'GBF1', 'score': 18.06}, {'connected_gene': 'NOLC1', 'score': 11.45}, {'connected_gene': 'PDCD11', 'score': 10.76}, {'connected_gene': 'RPEL1', 'score': 10.46}, {'connected_gene': 'TAF5', 'score': 10.43}, {'connected_gene': 'SFXN2', 'score': 9.96}, {'connected_gene': 'WBP1L', 'score': 8.64}, {'connected_gene': 'AS3MT', 'score': 6.47}]
chr10 GH10I101835 101835862 101841433 1.94 [{'connected_gene': 'LOC101927445', 'score': 550.77}, {'connected_gene': 'KCNIP2', 'score': 550.44}, {'connected_gene': 'HPS6', 'score': 18.43}, {'connected_gene': 'LZTS2', 'score': 11.43}, {'connected_gene': 'NOLC1', 'score': 10.61}, {'connected_gene': 'SLF2', 'score': 10.29}, {'connected_gene': 'NPM3', 'score': 6.35}, {'connected_gene': 'SUFU', 'score': 4.44}, {'connected_gene': 'MRPL43', 'score': 4.4}, {'connected_gene': 'GC10M101802', 'score': 0.39}, {'connected_gene': 'KCNIP2-AS1', 'score': 0.37}]
chr10 GH10I102761 102761844 102768452 1.36 [{'connected_gene': 'KCNIP2-AS1', 'score': 33.2}, {'connected_gene': 'SFXN2', 'score': 29.41}, {'connected_gene': 'NOLC1', 'score': 29.2}, {'connected_gene': 'WBP1L', 'score': 23.64}, {'connected_gene': 'ARL3', 'score': 23.12}, {'connected_gene': 'RPEL1', 'score': 19.46}, {'connected_gene': 'AS3MT', 'score': 16.75}, {'connected_gene': 'CYP17A1', 'score': 11.44}, {'connected_gene': 'PTGES3P4', 'score': 11.43}, {'connected_gene': 'PFN1P11', 'score': 11.43}, {'connected_gene': 'BORCS7', 'score': 8.88}, {'connected_gene': 'MFSD13A', 'score': 7.33}, {'connected_gene': 'GC10P102745', 'score': 0.34}, {'connected_gene': 'GC10P102744', 'score': 0.34}, {'connected_gene': 'RNU6-1231P', 'score': 0.28}]

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