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
ENST00000372808 [[42928495, 42928711], [42929949, 42930077], [42930499, 42930616], [42930809, 42930952], [42931065, 42931187], [42931272, 42931618]] [[42928505, 42928711], [42929949, 42930077], [42930499, 42930616], [42930809, 42930952], [42931065, 42931187], [42931272, 42931444]]
NR_134899 [[42928491, 42928711], [42929949, 42930077], [42930499, 42930616], [42931065, 42931187], [42931272, 42931618]] None
NM_001318865 [[42928491, 42928711], [42929949, 42930077], [42930499, 42930616], [42930866, 42930952], [42931065, 42931187], [42931272, 42931618]] [[42928505, 42928711], [42929949, 42930077], [42930499, 42930616], [42930866, 42930952], [42931065, 42931187], [42931272, 42931444]]
NM_018960 [[42928491, 42928711], [42929949, 42930077], [42930499, 42930616], [42930809, 42930952], [42931065, 42931187], [42931272, 42931618]] [[42928505, 42928711], [42929949, 42930077], [42930499, 42930616], [42930809, 42930952], [42931065, 42931187], [42931272, 42931444]]
Promoter
Chrom Start End Description
chr6 42928485 42928496 CAGE_peak_1_at_GNMT_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I042040 42040854 42051803 2.8 [{'connected_gene': 'CCND3', 'score': 561.62}, {'connected_gene': 'TAF8', 'score': 559.04}, {'connected_gene': 'PIR49026', 'score': 550.77}, {'connected_gene': 'ENSG00000124593', 'score': 18.84}, {'connected_gene': 'RNU6-761P', 'score': 11.51}, {'connected_gene': 'ENSG00000207371', 'score': 11.44}, {'connected_gene': 'MED20', 'score': 11.44}, {'connected_gene': 'BYSL', 'score': 11.43}, {'connected_gene': 'FRS3', 'score': 11.27}, {'connected_gene': 'PRICKLE4', 'score': 11.26}, {'connected_gene': 'USP49', 'score': 11.2}, {'connected_gene': 'TOMM6', 'score': 10.98}, {'connected_gene': 'ENSG00000206977', 'score': 10.3}, {'connected_gene': 'GNMT', 'score': 5.56}, {'connected_gene': 'TRERF1', 'score': 2.67}, {'connected_gene': 'TFEB', 'score': 2.15}]
chr6 GH06I042769 42769930 42772897 1.53 [{'connected_gene': 'TBCC', 'score': 22.04}, {'connected_gene': 'CUL7', 'score': 11.86}, {'connected_gene': 'RPL7L1', 'score': 11.13}, {'connected_gene': 'CUL9', 'score': 10.91}, {'connected_gene': 'ABCC10', 'score': 10.37}, {'connected_gene': 'TRERF1', 'score': 9.15}, {'connected_gene': 'C6orf226', 'score': 6.24}, {'connected_gene': 'PRPH2', 'score': 5.91}, {'connected_gene': 'BICRAL', 'score': 4.95}, {'connected_gene': 'GNMT', 'score': 4.72}, {'connected_gene': 'UBR2', 'score': 3.23}, {'connected_gene': 'CNPY3', 'score': 1.61}, {'connected_gene': 'LOC401261', 'score': 0.39}, {'connected_gene': 'PIR49302', 'score': 0.34}]
chr6 GH06I042977 42977872 42980808 2.08 [{'connected_gene': 'PEX6', 'score': 641.3}, {'connected_gene': 'POLH', 'score': 27.95}, {'connected_gene': 'RRP36', 'score': 22.55}, {'connected_gene': 'GTPBP2', 'score': 22.1}, {'connected_gene': 'ZNF318', 'score': 17.86}, {'connected_gene': 'XPO5', 'score': 13.85}, {'connected_gene': 'RPS2P29', 'score': 13.82}, {'connected_gene': 'POLR1C', 'score': 13.45}, {'connected_gene': 'ENSG00000271754', 'score': 10.49}, {'connected_gene': 'DNPH1', 'score': 8.18}, {'connected_gene': 'GNMT', 'score': 4.72}, {'connected_gene': 'CUL7', 'score': 4.64}, {'connected_gene': 'PPP2R5D', 'score': 0.44}, {'connected_gene': 'MEA1', 'score': 0.28}]
chr6 GH06I042942 42942234 42944706 0.68 [{'connected_gene': 'PEX6', 'score': 23.1}, {'connected_gene': 'DNPH1', 'score': 6.22}, {'connected_gene': 'ENSG00000231113', 'score': 5.32}, {'connected_gene': 'GNMT', 'score': 0.77}, {'connected_gene': 'RPL24P4', 'score': 0.39}]
chr6 GH06I042956 42956401 42956800 0.5 [{'connected_gene': 'RPL24P4', 'score': 550.77}, {'connected_gene': 'PEX6', 'score': 108.25}, {'connected_gene': 'PPP2R5D', 'score': 11.45}, {'connected_gene': 'RN7SL403P', 'score': 10.91}, {'connected_gene': 'KLC4', 'score': 10.9}, {'connected_gene': 'CUL7', 'score': 10.88}, {'connected_gene': 'KLHDC3', 'score': 10.87}, {'connected_gene': 'MEA1', 'score': 10.86}, {'connected_gene': 'RPL7L1', 'score': 10.17}, {'connected_gene': 'RNU6-890P', 'score': 9.74}, {'connected_gene': 'GNMT', 'score': 0.37}, {'connected_gene': 'ENSG00000231113', 'score': 0.37}]
chr6 GH06I042132 42132775 42134501 0.54 [{'connected_gene': 'GUCA1A', 'score': 12.49}, {'connected_gene': 'ENSG00000214732', 'score': 12.49}, {'connected_gene': 'GNMT', 'score': 4.96}, {'connected_gene': 'GC06P042354', 'score': 0.77}, {'connected_gene': 'C6orf132', 'score': 0.44}, {'connected_gene': 'ENSG00000261068', 'score': 0.28}]
chr6 GH06I042938 42938977 42940380 1.12 [{'connected_gene': 'GNMT', 'score': 557.52}, {'connected_gene': 'ENSG00000231113', 'score': 550.77}, {'connected_gene': 'PEX6', 'score': 22.47}, {'connected_gene': 'CNPY3', 'score': 0.39}]
chr6 GH06I042935 42935423 42935572 0.82 [{'connected_gene': 'GNMT', 'score': 0.77}, {'connected_gene': 'PIR33684', 'score': 0.44}, {'connected_gene': 'CNPY3', 'score': 0.44}, {'connected_gene': 'GC06M042930', 'score': 0.44}]
chr6 GH06I042934 42934151 42934709 0.2 [{'connected_gene': 'GNMT', 'score': 0.77}, {'connected_gene': 'PIR33684', 'score': 0.44}, {'connected_gene': 'CNPY3', 'score': 0.44}, {'connected_gene': 'GC06M042930', 'score': 0.44}]
chr6 GH06I043266 43266901 43280003 1.76 [{'connected_gene': 'ZNF318', 'score': 44.68}, {'connected_gene': 'POLH', 'score': 39.18}, {'connected_gene': 'POLR1C', 'score': 31.42}, {'connected_gene': 'GTPBP2', 'score': 30.6}, {'connected_gene': 'ABCC10', 'score': 28.97}, {'connected_gene': 'RPS2P29', 'score': 24.67}, {'connected_gene': 'CUL7', 'score': 19.48}, {'connected_gene': 'XPO5', 'score': 19.45}, {'connected_gene': 'UBR2', 'score': 16.08}, {'connected_gene': 'KLC4', 'score': 13.77}, {'connected_gene': 'BICRAL', 'score': 12.86}, {'connected_gene': 'DNPH1', 'score': 12.73}, {'connected_gene': 'CUL9', 'score': 12.72}, {'connected_gene': 'RRP36', 'score': 12.68}, {'connected_gene': 'ENSG00000271970', 'score': 11.15}, {'connected_gene': 'ENSG00000272223', 'score': 10.53}, {'connected_gene': 'SLC35B2', 'score': 10.37}, {'connected_gene': 'TJAP1', 'score': 9.85}, {'connected_gene': 'MRPL2', 'score': 5.42}, {'connected_gene': 'PEX6', 'score': 5.19}, {'connected_gene': 'SLC22A7', 'score': 2.5}, {'connected_gene': 'GNMT', 'score': 2.19}, {'connected_gene': 'CRIP3', 'score': 2.07}, {'connected_gene': 'LOC105375064', 'score': 0.39}, {'connected_gene': 'TTBK1', 'score': 0.31}]
chr6 GH06I043260 43260978 43261371 0.45 [{'connected_gene': 'SLC22A7', 'score': 17.29}, {'connected_gene': 'TJAP1', 'score': 11.73}, {'connected_gene': 'ZNF318', 'score': 11.62}, {'connected_gene': 'CRIP3', 'score': 11.49}, {'connected_gene': 'RPL12P47', 'score': 11.49}, {'connected_gene': 'DLK2', 'score': 11.1}, {'connected_gene': 'DNPH1', 'score': 11.07}, {'connected_gene': 'ENSG00000245261', 'score': 11.05}, {'connected_gene': 'CUL9', 'score': 10.95}, {'connected_gene': 'YIPF3', 'score': 10.91}, {'connected_gene': 'POLR1C', 'score': 10.91}, {'connected_gene': 'LRRC73', 'score': 10.91}, {'connected_gene': 'RNU6-1113P', 'score': 10.57}, {'connected_gene': 'GNMT', 'score': 4.32}, {'connected_gene': 'TTBK1', 'score': 3.27}, {'connected_gene': 'KLC4', 'score': 2.75}, {'connected_gene': 'LOC105375064', 'score': 0.34}]
chr6 GH06I042959 42959666 42961460 1.9 [{'connected_gene': 'GC06M042961', 'score': 550.77}, {'connected_gene': 'GNMT', 'score': 550.34}, {'connected_gene': 'PEX6', 'score': 91.39}, {'connected_gene': 'CUL7', 'score': 4.42}, {'connected_gene': 'RPL24P4', 'score': 0.77}]
chr6 GH06I042928 42927970 42933607 2.32 [{'connected_gene': 'GC06M042930', 'score': 550.77}, {'connected_gene': 'PIR33684', 'score': 550.77}, {'connected_gene': 'CNPY3', 'score': 550.77}, {'connected_gene': 'PEX6', 'score': 75.59}, {'connected_gene': 'ZNF318', 'score': 63.02}, {'connected_gene': 'POLH', 'score': 62.12}, {'connected_gene': 'GTPBP2', 'score': 42.88}, {'connected_gene': 'XPO5', 'score': 35.39}, {'connected_gene': 'RRP36', 'score': 34.37}, {'connected_gene': 'CUL7', 'score': 30.93}, {'connected_gene': 'ABCC10', 'score': 27.35}, {'connected_gene': 'RPS2P29', 'score': 23.38}, {'connected_gene': 'UBR2', 'score': 16.2}, {'connected_gene': 'PPP2R5D', 'score': 15.43}, {'connected_gene': 'POLR1C', 'score': 13.45}, {'connected_gene': 'RPL24P4', 'score': 12.16}, {'connected_gene': 'TAF8', 'score': 11.79}, {'connected_gene': 'BICRAL', 'score': 11.49}, {'connected_gene': 'RPL34P14', 'score': 11.06}, {'connected_gene': 'KLHDC3', 'score': 10.8}, {'connected_gene': 'MEA1', 'score': 10.8}, {'connected_gene': 'KLC4', 'score': 10.75}, {'connected_gene': 'RN7SL403P', 'score': 10.5}, {'connected_gene': 'ENSG00000271754', 'score': 10.49}, {'connected_gene': 'DNPH1', 'score': 10.46}, {'connected_gene': 'RPL7L1', 'score': 10.06}, {'connected_gene': 'CUL9', 'score': 9.86}, {'connected_gene': 'DLK2', 'score': 9.2}, {'connected_gene': 'GNMT', 'score': 0.44}]