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
ENST00000361871 [[1988210, 1989144], [1990778, 1990893], [1991257, 1991406], [1993102, 1993327]] [[1989112, 1989144], [1990778, 1990893], [1991257, 1991406], [1993102, 1993157]]
ENST00000473663 [[1988942, 1989144], [1991257, 1991406], [1993102, 1993124]] [[1991259, 1991406], [1993102, 1993124]]
ENST00000399753 [[1989019, 1989144], [1990778, 1991406], [1993102, 1993196]] [[1990780, 1991406], [1993102, 1993157]]
ENST00000564908 [[1989095, 1989144], [1990778, 1990893], [1991029, 1991168], [1991257, 1991406], [1993102, 1993200]] [[1990780, 1990893], [1991029, 1991168], [1991257, 1991406], [1993102, 1993157]]
ENST00000489198 [[1990978, 1991168], [1991257, 1991406], [1991570, 1991940]] None
NM_016332 [[1988229, 1989144], [1990778, 1990893], [1991257, 1991406], [1993102, 1993327]] [[1989112, 1989144], [1990778, 1990893], [1991257, 1991406], [1993102, 1993157]]
Promoter
Chrom Start End Description
chr16 1993260 1993271 CAGE_peak_3_at_SEPX1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I001900 1900240 1900409 0.62 [{'connected_gene': 'FAHD1', 'score': 33.47}, {'connected_gene': 'HS3ST6', 'score': 12.58}, {'connected_gene': 'MSRB1', 'score': 11.69}, {'connected_gene': 'RPL3L', 'score': 11.65}, {'connected_gene': 'NDUFB10', 'score': 11.65}, {'connected_gene': 'GC16P001892', 'score': 0.44}, {'connected_gene': 'PIR49138', 'score': 0.44}]
chr16 GH16I001901 1900480 1900629 0.52 [{'connected_gene': 'FAHD1', 'score': 31.59}, {'connected_gene': 'HS3ST6', 'score': 12.58}, {'connected_gene': 'MSRB1', 'score': 11.69}, {'connected_gene': 'RPL3L', 'score': 11.65}, {'connected_gene': 'NDUFB10', 'score': 11.65}, {'connected_gene': 'GC16P001892', 'score': 0.44}, {'connected_gene': 'PIR49138', 'score': 0.44}]
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 GH16I001953 1953755 1955344 1.13 [{'connected_gene': 'RPL3L', 'score': 575.58}, {'connected_gene': 'ENSG00000255513', 'score': 30.49}, {'connected_gene': 'MSRB1', 'score': 0.39}]
chr16 GH16I001956 1956828 1956952 0.22 [{'connected_gene': 'RPL3L', 'score': 550.77}, {'connected_gene': 'RNF151', 'score': 83.96}, {'connected_gene': 'ENSG00000255513', 'score': 35.56}, {'connected_gene': 'BRICD5', 'score': 17.35}, {'connected_gene': 'PRSS30P', 'score': 5.68}, {'connected_gene': 'MSRB1', 'score': 0.39}]
chr16 GH16I001937 1937859 1944299 2.48 [{'connected_gene': 'MSRB1', 'score': 556.23}, {'connected_gene': 'TELO2', 'score': 17.3}, {'connected_gene': 'ENSG00000260646', 'score': 16.49}, {'connected_gene': 'CRAMP1', 'score': 14.17}, {'connected_gene': 'ENSG00000261123', 'score': 13.28}, {'connected_gene': 'LOC105371049', 'score': 12.95}, {'connected_gene': 'LOC106660606', 'score': 12.2}, {'connected_gene': 'NUBP2', 'score': 12.17}, {'connected_gene': 'FAHD1', 'score': 12.13}, {'connected_gene': 'ENSG00000260447', 'score': 11.23}, {'connected_gene': 'TSC2', 'score': 11.04}, {'connected_gene': 'SNHG19', 'score': 10.94}, {'connected_gene': 'ERVK13-1', 'score': 10.77}, {'connected_gene': 'E4F1', 'score': 10.21}, {'connected_gene': 'HAGH', 'score': 9.07}, {'connected_gene': 'ENSG00000261613', 'score': 5.49}, {'connected_gene': 'GC16M001938', 'score': 0.77}, {'connected_gene': 'RPL3L', 'score': 0.37}]
chr16 GH16I001933 1933186 1933706 0.49 [{'connected_gene': 'MSRB1', 'score': 5.38}, {'connected_gene': 'GC16M001938', 'score': 0.44}, {'connected_gene': 'HS3ST6', 'score': 0.39}]
chr16 GH16I001949 1949920 1950069 0.58 [{'connected_gene': 'MSRB1', 'score': 0.44}, {'connected_gene': 'RPL3L', 'score': 0.44}]
chr16 GH16I001944 1944340 1944489 0.98 [{'connected_gene': 'MSRB1', 'score': 550.77}, {'connected_gene': 'HAGH', 'score': 8.92}, {'connected_gene': 'RPL3L', 'score': 0.39}]
chr16 GH16I001945 1945321 1948160 0.63 [{'connected_gene': 'HAGH', 'score': 7.58}, {'connected_gene': 'ENSG00000255513', 'score': 5.71}, {'connected_gene': 'FAHD1', 'score': 4.66}, {'connected_gene': 'MSRB1', 'score': 0.77}, {'connected_gene': 'RPL3L', 'score': 0.39}]
chr16 GH16I001976 1976847 1981767 1.59 [{'connected_gene': 'NOXO1', 'score': 550.77}, {'connected_gene': 'ENSG00000255513', 'score': 13.93}, {'connected_gene': 'RPL3L', 'score': 11.97}, {'connected_gene': 'MSRB1', 'score': 11.9}, {'connected_gene': 'GFER', 'score': 8.31}, {'connected_gene': 'TBL3', 'score': 0.44}]
chr16 GH16I001895 1895872 1896344 0.43 [{'connected_gene': 'PIR49138', 'score': 550.77}, {'connected_gene': 'GC16M001894', 'score': 550.77}, {'connected_gene': 'FAHD1', 'score': 42.65}, {'connected_gene': 'HS3ST6', 'score': 12.55}, {'connected_gene': 'MSRB1', 'score': 12.32}, {'connected_gene': 'RPL3L', 'score': 12.28}, {'connected_gene': 'NDUFB10', 'score': 12.28}, {'connected_gene': 'IGFALS', 'score': 11.28}, {'connected_gene': 'HAGH', 'score': 11.21}, {'connected_gene': 'GC16P001892', 'score': 0.77}]
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}]
chr16 GH16I001950 1950266 1951667 0.51 [{'connected_gene': 'ENSG00000255513', 'score': 7.29}, {'connected_gene': 'MSRB1', 'score': 0.44}, {'connected_gene': 'RPL3L', 'score': 0.44}]
chr16 GH16I001468 1468973 1473453 1.34 [{'connected_gene': 'ENSG00000261430', 'score': 550.77}, {'connected_gene': 'GC16M001481', 'score': 550.77}, {'connected_gene': 'CLCN7', 'score': 40.53}, {'connected_gene': 'ENSG00000260051', 'score': 20.75}, {'connected_gene': 'ENSG00000261505', 'score': 15.6}, {'connected_gene': 'TBL3', 'score': 15.56}, {'connected_gene': 'WDR90', 'score': 15.19}, {'connected_gene': 'ZNF598', 'score': 14.88}, {'connected_gene': 'CRAMP1', 'score': 13.99}, {'connected_gene': 'TELO2', 'score': 13.65}, {'connected_gene': 'E4F1', 'score': 13.22}, {'connected_gene': 'RHOT2', 'score': 13.13}, {'connected_gene': 'TRAF7', 'score': 13.05}, {'connected_gene': 'ENSG00000260954', 'score': 13.0}, {'connected_gene': 'SNORA64', 'score': 12.49}, {'connected_gene': 'NUBP2', 'score': 12.48}, {'connected_gene': 'ENSG00000261207', 'score': 12.05}, {'connected_gene': 'ENSG00000255513', 'score': 12.0}, {'connected_gene': 'CAPN15', 'score': 11.85}, {'connected_gene': 'JMJD8', 'score': 11.41}, {'connected_gene': 'TSC2', 'score': 11.28}, {'connected_gene': 'WDR24', 'score': 11.13}, {'connected_gene': 'SNORD60', 'score': 11.09}, {'connected_gene': 'CCDC154', 'score': 10.87}, {'connected_gene': 'UBE2I', 'score': 10.6}, {'connected_gene': 'SPSB3', 'score': 10.03}, {'connected_gene': 'UNKL', 'score': 9.87}, {'connected_gene': 'BAIAP3', 'score': 5.95}, {'connected_gene': 'GNPTG', 'score': 4.6}, {'connected_gene': 'MSRB1', 'score': 3.19}, {'connected_gene': 'MAPK8IP3', 'score': 1.8}, {'connected_gene': 'PIR56401', 'score': 0.37}, {'connected_gene': 'LOC647211', 'score': 0.23}]