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
ENST00000360067 [[7753643, 7754316], [7755044, 7755151], [7755291, 7755443], [7761710, 7761800], [7761898, 7761961], [7762121, 7762184], [7762412, 7762475], [7763241, 7763295], [7763626, 7763740], [7764262, 7764281]] [[7754078, 7754316], [7755044, 7755151], [7755291, 7755443], [7761710, 7761800], [7761898, 7761961], [7762121, 7762184], [7762412, 7762475], [7763241, 7763295], [7763626, 7763740], [7764262, 7764281]]
ENST00000597312 [[7753659, 7754316], [7755044, 7755151], [7755291, 7755443], [7761710, 7761800], [7761898, 7761961], [7762121, 7762184], [7762412, 7762475], [7763241, 7763740], [7764624, 7764731], [7764860, 7764969]] None
ENST00000346664 [[7753661, 7754316], [7755044, 7755151], [7755291, 7755443], [7761710, 7761800], [7761898, 7761961], [7762121, 7762184], [7762412, 7762475], [7763241, 7763295], [7763626, 7763740], [7764624, 7764731], [7766904, 7767032]] [[7754078, 7754316], [7755044, 7755151], [7755291, 7755443], [7761710, 7761800], [7761898, 7761961], [7762121, 7762184], [7762412, 7762475], [7763241, 7763295], [7763626, 7763740], [7764624, 7764646]]
ENST00000597921 [[7753666, 7754316], [7755044, 7755151], [7755291, 7755443], [7761710, 7761800], [7761898, 7761961], [7762121, 7762184], [7762412, 7762475], [7763241, 7763295], [7763626, 7763740], [7764624, 7764731], [7766900, 7766997]] [[7754078, 7754316], [7755044, 7755151], [7755291, 7755443], [7761710, 7761800], [7761898, 7761961], [7762121, 7762184], [7762412, 7762475], [7763241, 7763295], [7763626, 7763740], [7764624, 7764646]]
ENST00000598803 [[7753667, 7754316], [7755044, 7755151], [7755291, 7755443], [7761710, 7761800], [7761898, 7761961], [7762121, 7762184], [7762412, 7762475], [7763241, 7763740], [7764624, 7764731], [7766900, 7766979]] None
ENST00000597934 [[7753829, 7754316], [7755044, 7755151], [7755291, 7755443], [7761710, 7761800], [7761898, 7762184], [7762412, 7762475], [7763241, 7763295], [7763626, 7763740], [7764624, 7764731], [7766900, 7767017]] None
ENST00000593418 [[7755372, 7755443], [7761710, 7761800], [7762121, 7762184], [7762412, 7762475], [7763241, 7763295], [7763626, 7763740], [7764624, 7764970]] [[7755372, 7755443], [7761710, 7761800], [7762121, 7762184], [7762412, 7762475], [7763241, 7763295], [7763626, 7763740], [7764624, 7764646]]
NM_001207019 [[7753642, 7754316], [7755044, 7755151], [7755291, 7755443], [7761710, 7761800], [7761898, 7761961], [7762121, 7762184], [7762412, 7762475], [7763241, 7763295], [7763626, 7763740], [7764262, 7764365]] [[7754078, 7754316], [7755044, 7755151], [7755291, 7755443], [7761710, 7761800], [7761898, 7761961], [7762121, 7762184], [7762412, 7762475], [7763241, 7763295], [7763626, 7763740], [7764262, 7764281]]
NM_001220500 [[7753642, 7754316], [7755044, 7755151], [7755291, 7755443], [7761710, 7761800], [7761898, 7761961], [7762121, 7762184], [7762412, 7762475], [7763241, 7763295], [7763626, 7763740], [7764624, 7764731], [7766900, 7767032]] [[7754078, 7754316], [7755044, 7755151], [7755291, 7755443], [7761710, 7761800], [7761898, 7761961], [7762121, 7762184], [7762412, 7762475], [7763241, 7763295], [7763626, 7763740], [7764624, 7764646]]
NM_002002 [[7753642, 7754316], [7755044, 7755151], [7755291, 7755443], [7761710, 7761800], [7761898, 7761961], [7762121, 7762184], [7762412, 7762475], [7763241, 7763295], [7763626, 7763740], [7764624, 7764731], [7766904, 7767032]] [[7754078, 7754316], [7755044, 7755151], [7755291, 7755443], [7761710, 7761800], [7761898, 7761961], [7762121, 7762184], [7762412, 7762475], [7763241, 7763295], [7763626, 7763740], [7764624, 7764646]]
Promoter
Chrom Start End Description
chr19 7764283 7764297 CAGE_peak_4_at_FCER2_5end
chr19 7764314 7764346 CAGE_peak_2_at_FCER2_5end
chr19 7764350 7764361 CAGE_peak_5_at_FCER2_5end
chr19 7764857 7764877 CAGE_peak_11_at_FCER2_5end
chr19 7764879 7764897 CAGE_peak_8_at_FCER2_5end
chr19 7764904 7764925 CAGE_peak_6_at_FCER2_5end
chr19 7764960 7764967 CAGE_peak_13_at_FCER2_5end
chr19 7764975 7764994 CAGE_peak_7_at_FCER2_5end
chr19 7765022 7765029 CAGE_peak_14_at_FCER2_5end
chr19 7765061 7765070 CAGE_peak_10_at_FCER2_5end
chr19 7766958 7766972 CAGE_peak_3_at_FCER2_5end
chr19 7766976 7766982 CAGE_peak_9_at_FCER2_5end
chr19 7766987 7766989 CAGE_peak_16_at_FCER2_5end
chr19 7766991 7767038 CAGE_peak_1_at_FCER2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I007336 7336168 7339146 1.45 [{'connected_gene': 'KHSRP', 'score': 11.9}, {'connected_gene': 'XAB2', 'score': 10.55}, {'connected_gene': 'MAP2K7', 'score': 10.37}, {'connected_gene': 'GTF2F1', 'score': 9.95}, {'connected_gene': 'FCER2', 'score': 2.87}, {'connected_gene': 'GC19P007345', 'score': 0.44}, {'connected_gene': 'INSR', 'score': 0.26}]
chr19 GH19I007779 7779293 7780464 0.57 [{'connected_gene': 'CLEC4GP1', 'score': 13.1}, {'connected_gene': 'RPL21P129', 'score': 12.74}, {'connected_gene': 'CD209', 'score': 12.72}, {'connected_gene': 'CLEC4G', 'score': 12.59}, {'connected_gene': 'FCER2', 'score': 12.21}, {'connected_gene': 'TRAPPC5', 'score': 12.01}, {'connected_gene': 'MCEMP1', 'score': 12.0}, {'connected_gene': 'ZNF414', 'score': 10.79}, {'connected_gene': 'LOC105372263', 'score': 0.44}, {'connected_gene': 'GC19P007785', 'score': 0.44}]
chr19 GH19I007714 7714170 7715443 0.71 [{'connected_gene': 'CD209', 'score': 17.03}, {'connected_gene': 'TRAPPC5', 'score': 13.16}, {'connected_gene': 'MCEMP1', 'score': 13.14}, {'connected_gene': 'RPL21P129', 'score': 11.88}, {'connected_gene': 'CAMSAP3', 'score': 10.87}, {'connected_gene': 'CLEC4G', 'score': 6.8}, {'connected_gene': 'FCER2', 'score': 6.09}, {'connected_gene': 'XAB2', 'score': 5.54}, {'connected_gene': 'LOC105372262', 'score': 0.44}]
chr19 GH19I007344 7344390 7351407 2.02 [{'connected_gene': 'ARHGEF18', 'score': 552.39}, {'connected_gene': 'ENSG00000263264', 'score': 550.77}, {'connected_gene': 'FCER2', 'score': 7.31}, {'connected_gene': 'ZNF557', 'score': 5.53}, {'connected_gene': 'GC19P007345', 'score': 0.77}]
chr19 GH19I007700 7700966 7708009 2.08 [{'connected_gene': 'FCER2', 'score': 567.12}, {'connected_gene': 'STXBP2', 'score': 17.49}, {'connected_gene': 'ELAVL1', 'score': 14.53}, {'connected_gene': 'HNRNPM', 'score': 13.56}, {'connected_gene': 'XAB2', 'score': 12.91}, {'connected_gene': 'PEX11G', 'score': 12.81}, {'connected_gene': 'MAP2K7', 'score': 12.54}, {'connected_gene': 'CD209', 'score': 12.41}, {'connected_gene': 'CLEC4G', 'score': 12.41}, {'connected_gene': 'RPL21P129', 'score': 12.4}, {'connected_gene': 'MCEMP1', 'score': 10.33}, {'connected_gene': 'MCOLN1', 'score': 10.02}, {'connected_gene': 'PNPLA6', 'score': 5.73}, {'connected_gene': 'RAB11B-AS1', 'score': 5.45}, {'connected_gene': 'ARHGEF18', 'score': 4.88}, {'connected_gene': 'RETN', 'score': 1.51}, {'connected_gene': 'LOC105372262', 'score': 0.77}, {'connected_gene': 'GC19P007703', 'score': 0.44}]
chr19 GH19I007690 7690529 7693329 1.31 [{'connected_gene': 'FCER2', 'score': 14.82}, {'connected_gene': 'HNRNPM', 'score': 10.28}, {'connected_gene': 'STXBP2', 'score': 9.92}, {'connected_gene': 'ARHGEF18', 'score': 4.9}, {'connected_gene': 'MAP2K7', 'score': 1.65}, {'connected_gene': 'EVI5L', 'score': 1.51}, {'connected_gene': 'FBN3', 'score': 1.31}, {'connected_gene': 'GC19P007703', 'score': 0.77}, {'connected_gene': 'TRAPPC5', 'score': 0.39}]
chr19 GH19I007698 7698601 7700602 1.78 [{'connected_gene': 'FCER2', 'score': 567.64}, {'connected_gene': 'ELAVL1', 'score': 33.97}, {'connected_gene': 'HNRNPM', 'score': 25.08}, {'connected_gene': 'XAB2', 'score': 21.55}, {'connected_gene': 'MAP2K7', 'score': 10.27}, {'connected_gene': 'GC19P007703', 'score': 0.77}]
chr19 GH19I007689 7689001 7689600 0.2 [{'connected_gene': 'TRAPPC5', 'score': 0.44}, {'connected_gene': 'GC19P007703', 'score': 0.44}, {'connected_gene': 'FCER2', 'score': 0.39}]
chr19 GH19I007772 7772601 7773400 0.99 [{'connected_gene': 'RPL21P129', 'score': 13.29}, {'connected_gene': 'CD209', 'score': 13.26}, {'connected_gene': 'FCER2', 'score': 12.28}, {'connected_gene': 'CLEC4G', 'score': 11.89}, {'connected_gene': 'CLEC4GP1', 'score': 9.52}, {'connected_gene': 'LOC105372263', 'score': 0.77}, {'connected_gene': 'GC19P007785', 'score': 0.39}]
chr19 GH19I007751 7751275 7751681 0.84 [{'connected_gene': 'RPL21P129', 'score': 550.77}, {'connected_gene': 'GC19P007750', 'score': 550.77}, {'connected_gene': 'CLEC4M', 'score': 5.11}, {'connected_gene': 'FCER2', 'score': 1.79}, {'connected_gene': 'XAB2', 'score': 1.4}]
chr19 GH19I007694 7694091 7695409 0.85 [{'connected_gene': 'GC19P007703', 'score': 550.77}, {'connected_gene': 'FCER2', 'score': 7.46}, {'connected_gene': 'TRAPPC5', 'score': 6.64}]