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
ENST00000412554 [[1883983, 1884367], [1887784, 1887871], [1889255, 1889439], [1891820, 1891974], [1894862, 1894964], [1903039, 1903135], [1903219, 1903272], [1904100, 1904201], [1907735, 1907931], [1910403, 1910476], [1911985, 1912117], [1915778, 1915836], [1918107, 1918185], [1921993, 1922179]] [[1884256, 1884367], [1887784, 1887871], [1889255, 1889439], [1891820, 1891974], [1894862, 1894964], [1903039, 1903135], [1903219, 1903272], [1904100, 1904201], [1907735, 1907931], [1910403, 1910476], [1911985, 1912117], [1915778, 1915836], [1918107, 1918176]]
ENST00000452149 [[1883983, 1884367], [1889255, 1889439], [1891820, 1891974], [1894862, 1894964], [1903039, 1903135], [1903219, 1903272], [1904100, 1904201], [1907735, 1907931], [1910403, 1910476], [1911985, 1912116], [1915777, 1915836], [1918107, 1918185], [1921993, 1922179]] [[1884256, 1884367], [1889255, 1889439], [1891820, 1891974], [1894862, 1894964], [1903039, 1903135], [1903219, 1903272], [1904100, 1904201], [1907735, 1907931], [1910403, 1910476], [1911985, 1912116], [1915777, 1915836], [1918107, 1918176]]
ENST00000470044 [[1883987, 1884367], [1887784, 1887871], [1889255, 1889439], [1891820, 1891974], [1894862, 1894964], [1903039, 1903135], [1903219, 1903272], [1904100, 1904201], [1907735, 1907931], [1910403, 1910476], [1911985, 1912117], [1933196, 1933297], [1934097, 1934295]] [[1884256, 1884367], [1887784, 1887871], [1889255, 1889439], [1891820, 1891974], [1894862, 1894964], [1903039, 1903135], [1903219, 1903272], [1904100, 1904108]]
ENST00000325962 [[1883988, 1884367], [1887784, 1887871], [1889255, 1889439], [1891820, 1891974], [1894862, 1894964], [1903039, 1903135], [1903219, 1903272], [1904100, 1904201], [1907735, 1907931], [1910403, 1910476], [1911985, 1912117], [1915778, 1915836], [1918107, 1918186]] [[1884256, 1884367], [1887784, 1887871], [1889255, 1889439], [1891820, 1891974], [1894862, 1894964], [1903039, 1903135], [1903219, 1903272], [1904100, 1904201], [1907735, 1907931], [1910403, 1910476], [1911985, 1912117], [1915778, 1915836], [1918107, 1918176]]
ENST00000397344 [[1883988, 1884367], [1889255, 1889439], [1891820, 1891974], [1894862, 1894964], [1903039, 1903135], [1903219, 1903272], [1904100, 1904201], [1907735, 1907931], [1910403, 1910476], [1911985, 1912117], [1915778, 1915836], [1918107, 1918185], [1921993, 1922179]] [[1884256, 1884367], [1889255, 1889439], [1891820, 1891974], [1894862, 1894964], [1903039, 1903135], [1903219, 1903272], [1904100, 1904201], [1907735, 1907931], [1910403, 1910476], [1911985, 1912117], [1915778, 1915836], [1918107, 1918176]]
ENST00000490154 [[1887684, 1887871], [1889255, 1889439], [1891820, 1891908]] None
ENST00000496541 [[1894960, 1894964], [1903039, 1903135], [1903219, 1903272], [1904100, 1904201], [1907735, 1907931], [1910403, 1910476], [1911985, 1912117], [1921993, 1922145]] [[1894960, 1894964], [1903039, 1903135], [1903219, 1903272], [1904100, 1904108]]
ENST00000460494 [[1907712, 1907931], [1910403, 1910476], [1911985, 1912117], [1918107, 1918185], [1921993, 1922096]] [[1912054, 1912117], [1918107, 1918176]]
ENST00000563416 [[1928285, 1928711], [1933196, 1933297], [1934097, 1934232]] None
NM_001163560 [[1883983, 1884367], [1887784, 1887871], [1889255, 1889439], [1891820, 1891974], [1894862, 1894964], [1903039, 1903135], [1903219, 1903272], [1904100, 1904201], [1907735, 1907931], [1910403, 1910476], [1911985, 1912117], [1915778, 1915836], [1918107, 1918185], [1921993, 1922179]] [[1884256, 1884367], [1887784, 1887871], [1889255, 1889439], [1891820, 1891974], [1894862, 1894964], [1903039, 1903135], [1903219, 1903272], [1904100, 1904201], [1907735, 1907931], [1910403, 1910476], [1911985, 1912117], [1915778, 1915836], [1918107, 1918176]]
NM_152764 [[1883988, 1884367], [1889255, 1889439], [1891820, 1891974], [1894862, 1894964], [1903039, 1903135], [1903219, 1903272], [1904100, 1904201], [1907735, 1907931], [1910403, 1910476], [1911985, 1912117], [1915778, 1915836], [1918107, 1918185], [1921993, 1922102]] [[1884256, 1884367], [1889255, 1889439], [1891820, 1891974], [1894862, 1894964], [1903039, 1903135], [1903219, 1903272], [1904100, 1904201], [1907735, 1907931], [1910403, 1910476], [1911985, 1912117], [1915778, 1915836], [1918107, 1918176]]
Promoter
Chrom Start End Description
chr16 1922109 1922181 CAGE_peak_1_at_C16orf73_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I001928 1928801 1930646 1.62 [{'connected_gene': 'IFT140', 'score': 20.55}, {'connected_gene': 'CCDC154', 'score': 16.6}, {'connected_gene': 'TSC2', 'score': 16.29}, {'connected_gene': 'ERVK13-1', 'score': 15.14}, {'connected_gene': 'FAHD1', 'score': 14.47}, {'connected_gene': 'EME2', 'score': 13.73}, {'connected_gene': 'NME3', 'score': 13.7}, {'connected_gene': 'CRAMP1', 'score': 13.6}, {'connected_gene': 'ENSG00000260447', 'score': 13.47}, {'connected_gene': 'TELO2', 'score': 12.53}, {'connected_gene': 'SNHG19', 'score': 12.22}, {'connected_gene': 'E4F1', 'score': 12.18}, {'connected_gene': 'HAGH', 'score': 10.57}, {'connected_gene': 'UBE2I', 'score': 10.03}, {'connected_gene': 'NUBP2', 'score': 9.82}, {'connected_gene': 'UNKL', 'score': 9.8}, {'connected_gene': 'MEIOB', 'score': 5.45}, {'connected_gene': 'RNF151', 'score': 5.34}, {'connected_gene': 'BRICD5', 'score': 3.43}, {'connected_gene': 'DNASE1L2', 'score': 1.61}, {'connected_gene': 'TBL3', 'score': 1.51}, {'connected_gene': 'MLST8', 'score': 1.47}, {'connected_gene': 'ABCA3', 'score': 1.19}, {'connected_gene': 'GC16M001938', 'score': 0.44}, {'connected_gene': 'HS3ST6', 'score': 0.44}]
chr16 GH16I001832 1832612 1834274 1.21 [{'connected_gene': 'FAHD1', 'score': 49.96}, {'connected_gene': 'HAGH', 'score': 28.25}, {'connected_gene': 'IGFALS', 'score': 11.85}, {'connected_gene': 'MEIOB', 'score': 11.28}, {'connected_gene': 'MAPK8IP3', 'score': 10.42}, {'connected_gene': 'JPT2', 'score': 6.72}, {'connected_gene': 'GC16M001827', 'score': 0.44}, {'connected_gene': 'PIR46763', 'score': 0.44}, {'connected_gene': 'GC16M001829', 'score': 0.44}]
chr16 GH16I001913 1913091 1914109 0.92 [{'connected_gene': 'FAHD1', 'score': 30.22}, {'connected_gene': 'HAGH', 'score': 22.99}, {'connected_gene': 'MEIOB', 'score': 12.54}, {'connected_gene': 'HS3ST6', 'score': 5.74}, {'connected_gene': 'ENSG00000260807', 'score': 4.72}, {'connected_gene': 'PIR49138', 'score': 0.37}]
chr16 GH16I001825 1825160 1832070 2.33 [{'connected_gene': 'FAHD1', 'score': 599.34}, {'connected_gene': 'HAGH', 'score': 581.72}, {'connected_gene': 'GC16M001827', 'score': 550.77}, {'connected_gene': 'GC16M001829', 'score': 550.77}, {'connected_gene': 'ENSG00000261505', 'score': 54.32}, {'connected_gene': 'SRRM2', 'score': 46.81}, {'connected_gene': 'TELO2', 'score': 44.17}, {'connected_gene': 'ENSG00000260051', 'score': 41.32}, {'connected_gene': 'CRAMP1', 'score': 38.52}, {'connected_gene': 'ENSG00000260954', 'score': 37.9}, {'connected_gene': 'ENSG00000255513', 'score': 37.27}, {'connected_gene': 'E4F1', 'score': 35.41}, {'connected_gene': 'SNORA64', 'score': 35.26}, {'connected_gene': 'ZNF598', 'score': 32.86}, {'connected_gene': 'NUBP2', 'score': 28.41}, {'connected_gene': 'TSC2', 'score': 24.34}, {'connected_gene': 'ENSG00000260646', 'score': 23.29}, {'connected_gene': 'ERVK13-1', 'score': 22.5}, {'connected_gene': 'SNORD60', 'score': 22.29}, {'connected_gene': 'TBL3', 'score': 21.69}, {'connected_gene': 'UNKL', 'score': 21.1}, {'connected_gene': 'UBE2I', 'score': 19.29}, {'connected_gene': 'SPSB3', 'score': 16.22}, {'connected_gene': 'ENSG00000261123', 'score': 15.06}, {'connected_gene': 'LOC105371049', 'score': 12.95}, {'connected_gene': 'ENSG00000261207', 'score': 12.61}, {'connected_gene': 'TRAF7', 'score': 12.57}, {'connected_gene': 'IGFALS', 'score': 12.4}, {'connected_gene': 'CLCN7', 'score': 12.3}, {'connected_gene': 'LOC106660606', 'score': 12.19}, {'connected_gene': 'MEIOB', 'score': 11.45}, {'connected_gene': 'MAPK8IP3', 'score': 10.62}, {'connected_gene': 'TPSAB1', 'score': 10.46}, {'connected_gene': 'SNHG19', 'score': 10.29}, {'connected_gene': 'AMDHD2', 'score': 10.15}, {'connected_gene': 'RPS2', 'score': 10.11}, {'connected_gene': 'IFT140', 'score': 9.99}, {'connected_gene': 'PIR46763', 'score': 0.39}]
chr16 GH16I001863 1863820 1863969 0.62 [{'connected_gene': 'HS3ST6', 'score': 12.47}, {'connected_gene': 'MEIOB', 'score': 12.45}, {'connected_gene': 'MSRB1', 'score': 12.2}, {'connected_gene': 'RPL3L', 'score': 12.18}, {'connected_gene': 'NDUFB10', 'score': 12.17}, {'connected_gene': 'SYNGR3', 'score': 10.5}, {'connected_gene': 'LOC102723890', 'score': 0.44}, {'connected_gene': 'GC16M001851', 'score': 0.44}]
chr16 GH16I001916 1916740 1916869 0.2 [{'connected_gene': 'MEIOB', 'score': 12.52}, {'connected_gene': 'HS3ST6', 'score': 0.77}, {'connected_gene': 'PIR49138', 'score': 0.34}]
chr16 GH16I001754 1754467 1755629 0.2 [{'connected_gene': 'MAPK8IP3', 'score': 11.96}, {'connected_gene': 'JPT2', 'score': 11.23}, {'connected_gene': 'MEIOB', 'score': 10.99}, {'connected_gene': 'ERVK13-1', 'score': 5.08}, {'connected_gene': 'ENSG00000261207', 'score': 0.77}, {'connected_gene': 'GC16M001765', 'score': 0.39}]
chr16 GH16I001757 1757744 1758508 0.2 [{'connected_gene': 'EME2', 'score': 18.03}, {'connected_gene': 'MAPK8IP3', 'score': 11.95}, {'connected_gene': 'HAGH', 'score': 11.56}, {'connected_gene': 'FAHD1', 'score': 11.56}, {'connected_gene': 'ENSG00000226890', 'score': 11.47}, {'connected_gene': 'IFT140', 'score': 11.46}, {'connected_gene': 'CRAMP1', 'score': 11.46}, {'connected_gene': 'MEIOB', 'score': 10.99}, {'connected_gene': 'ENSG00000261207', 'score': 0.44}, {'connected_gene': 'GC16M001765', 'score': 0.44}]
chr16 GH16I001870 1870300 1871207 0.84 [{'connected_gene': 'LOC102723890', 'score': 550.77}, {'connected_gene': 'FAHD1', 'score': 49.36}, {'connected_gene': 'HAGH', 'score': 30.63}, {'connected_gene': 'HS3ST6', 'score': 12.62}, {'connected_gene': 'TRAF7', 'score': 10.5}, {'connected_gene': 'SNORD60', 'score': 10.5}, {'connected_gene': 'RAB26', 'score': 10.5}, {'connected_gene': 'JPT2', 'score': 9.91}, {'connected_gene': 'MEIOB', 'score': 0.39}, {'connected_gene': 'GC16M001851', 'score': 0.37}]
chr16 GH16I001871 1871781 1872800 1.32 [{'connected_gene': 'LOC102723890', 'score': 550.77}, {'connected_gene': 'MEIOB', 'score': 550.39}, {'connected_gene': 'FAHD1', 'score': 46.65}, {'connected_gene': 'HAGH', 'score': 26.25}, {'connected_gene': 'HS3ST6', 'score': 12.63}, {'connected_gene': 'RAB26', 'score': 10.51}, {'connected_gene': 'TRAF7', 'score': 10.5}, {'connected_gene': 'SNORD60', 'score': 10.5}, {'connected_gene': 'JPT2', 'score': 9.91}, {'connected_gene': 'LINC00254', 'score': 0.39}]
chr16 GH16I001839 1839467 1840178 0.8 [{'connected_gene': 'PIR46763', 'score': 550.77}, {'connected_gene': 'FAHD1', 'score': 48.9}, {'connected_gene': 'HS3ST6', 'score': 12.0}, {'connected_gene': 'MEIOB', 'score': 11.81}, {'connected_gene': 'CRAMP1', 'score': 11.78}, {'connected_gene': 'TELO2', 'score': 10.29}, {'connected_gene': 'IFT140', 'score': 9.98}, {'connected_gene': 'ENSG00000261505', 'score': 9.92}, {'connected_gene': 'TSR3', 'score': 9.87}, {'connected_gene': 'GNPTG', 'score': 9.87}, {'connected_gene': 'IGFALS', 'score': 6.96}, {'connected_gene': 'HAGH', 'score': 0.39}, {'connected_gene': 'GC16M001827', 'score': 0.39}, {'connected_gene': 'GC16M001829', 'score': 0.39}]
chr16 GH16I001855 1855330 1856102 0.2 [{'connected_gene': 'GC16M001851', 'score': 550.77}, {'connected_gene': 'FAHD1', 'score': 61.17}, {'connected_gene': 'HAGH', 'score': 34.0}, {'connected_gene': 'HS3ST6', 'score': 12.14}, {'connected_gene': 'MEIOB', 'score': 12.08}, {'connected_gene': 'IGFALS', 'score': 11.96}, {'connected_gene': 'MSRB1', 'score': 11.86}, {'connected_gene': 'RPL3L', 'score': 11.84}, {'connected_gene': 'NDUFB10', 'score': 11.84}, {'connected_gene': 'ENSG00000260541', 'score': 0.39}]