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
ENST00000508784 [[146678778, 146682750], [146684241, 146684274], [146686139, 146686317], [146686698, 146686890], [146695657, 146695824], [146696940, 146697112], [146700525, 146700663], [146744573, 146744677], [146767107, 146767165], [146770473, 146770713], [146791396, 146791630], [146806829, 146807310], [146813394, 146813567], [146823317, 146824367], [146859516, 146859787]] [[146684258, 146684274], [146686139, 146686317], [146686698, 146686890], [146695657, 146695824], [146696940, 146697112], [146700525, 146700663], [146744573, 146744677], [146767107, 146767165], [146770473, 146770713], [146791396, 146791630], [146806829, 146807310], [146813394, 146813567], [146823317, 146824367], [146859516, 146859559]]
ENST00000513320 [[146681880, 146682750], [146684241, 146684274], [146686139, 146686317], [146686698, 146686890], [146695657, 146695824], [146696940, 146697112], [146700525, 146700663], [146744573, 146744677], [146767107, 146767165], [146770473, 146770713], [146791396, 146791630], [146806829, 146807310], [146813394, 146813567], [146859516, 146859641]] [[146684258, 146684274], [146686139, 146686317], [146686698, 146686890], [146695657, 146695824], [146696940, 146697112], [146700525, 146700663], [146744573, 146744677], [146767107, 146767165], [146770473, 146770713], [146791396, 146791630], [146806829, 146807310], [146813394, 146813567], [146859516, 146859559]]
ENST00000379448 [[146681889, 146682750], [146684241, 146684274], [146686130, 146686317], [146686698, 146686890], [146695657, 146695824], [146696940, 146697112], [146700525, 146700663], [146744573, 146744677], [146767107, 146767165], [146770473, 146770713], [146791396, 146791630], [146806829, 146807310], [146813394, 146813567], [146823317, 146824367], [146859516, 146859623]] [[146686135, 146686317], [146686698, 146686890], [146695657, 146695824], [146696940, 146697112], [146700525, 146700663], [146744573, 146744677], [146767107, 146767165], [146770473, 146770713], [146791396, 146791630], [146806829, 146807310], [146813394, 146813567], [146823317, 146824367], [146859516, 146859559]]
ENST00000508995 [[146791452, 146791630], [146807184, 146807310], [146813394, 146813567]] None
ENST00000513840 [[146797647, 146798010], [146806829, 146806900]] None
ENST00000503462 [[146682280, 146682750], [146686139, 146686207]] [[146682280, 146682750], [146686139, 146686207]]
ENST00000511659 [[146682433, 146682750], [146686130, 146686317], [146686698, 146686890], [146695657, 146695819]] [[146686135, 146686317], [146686698, 146686890], [146695657, 146695819]]
ENST00000515386 [[146685840, 146686317], [146686698, 146686890], [146695657, 146695714]] None
ENST00000509940 [[146740989, 146741248], [146744573, 146744677], [146767107, 146767144]] None
ENST00000511534 [[146770502, 146770713], [146791396, 146791630], [146791870, 146791919]] None
NM_178835 [[146678778, 146682750], [146684241, 146684274], [146686130, 146686317], [146686698, 146686890], [146695657, 146695824], [146696940, 146697112], [146700525, 146700663], [146744573, 146744677], [146767107, 146767165], [146770473, 146770713], [146791396, 146791630], [146806829, 146807310], [146813394, 146813567], [146823317, 146824367], [146859516, 146860112]] [[146686135, 146686317], [146686698, 146686890], [146695657, 146695824], [146696940, 146697112], [146700525, 146700663], [146744573, 146744677], [146767107, 146767165], [146770473, 146770713], [146791396, 146791630], [146806829, 146807310], [146813394, 146813567], [146823317, 146824367], [146859516, 146859559]]
NM_001306215 [[146678778, 146682750], [146684241, 146684274], [146686139, 146686317], [146686698, 146686890], [146695657, 146695824], [146696940, 146697112], [146700525, 146700663], [146744573, 146744677], [146767107, 146767165], [146770473, 146770713], [146791396, 146791630], [146806829, 146807310], [146813394, 146813567], [146823317, 146824367], [146859516, 146860112]] [[146684258, 146684274], [146686139, 146686317], [146686698, 146686890], [146695657, 146695824], [146696940, 146697112], [146700525, 146700663], [146744573, 146744677], [146767107, 146767165], [146770473, 146770713], [146791396, 146791630], [146806829, 146807310], [146813394, 146813567], [146823317, 146824367], [146859516, 146859559]]
Promoter
Chrom Start End Description
chr4 146859588 146859615 CAGE_peak_4_at_ZNF827_5end
chr4 146859626 146859669 CAGE_peak_2_at_ZNF827_5end
chr4 146859887 146859921 CAGE_peak_3_at_ZNF827_5end
chr4 146859927 146860055 CAGE_peak_1_at_ZNF827_5end
chr4 146860163 146860188 CAGE_peak_5_at_ZNF827_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I145625 145625771 145626058 0.46 [{'connected_gene': 'NCOA4P3', 'score': 550.77}, {'connected_gene': 'ENSG00000248356', 'score': 12.26}, {'connected_gene': 'C4orf51', 'score': 10.57}, {'connected_gene': 'ZNF827', 'score': 1.39}, {'connected_gene': 'MMAA', 'score': 0.44}]
chr4 GH04I145778 145778837 145780127 0.2 [{'connected_gene': 'C4orf51', 'score': 10.15}, {'connected_gene': 'GC04M145759', 'score': 0.37}, {'connected_gene': 'ENSG00000279481', 'score': 0.23}, {'connected_gene': 'ZNF827', 'score': 0.1}]
chr4 GH04I145769 145769601 145770200 0.64 [{'connected_gene': 'OTUD4', 'score': 21.31}, {'connected_gene': 'ENSG00000248356', 'score': 13.58}, {'connected_gene': 'SLC10A7', 'score': 12.19}, {'connected_gene': 'LSM6', 'score': 9.82}, {'connected_gene': 'GC04M145759', 'score': 0.44}, {'connected_gene': 'ENSG00000279481', 'score': 0.21}, {'connected_gene': 'C4orf51', 'score': 0.17}, {'connected_gene': 'ZNF827', 'score': 0.1}]
chr4 GH04I145812 145812255 145813860 0.97 [{'connected_gene': 'OTUD4', 'score': 29.87}, {'connected_gene': 'ENSG00000248356', 'score': 13.55}, {'connected_gene': 'SLC10A7', 'score': 12.19}, {'connected_gene': 'ANAPC10', 'score': 10.03}, {'connected_gene': 'LSM6', 'score': 9.83}, {'connected_gene': 'ENSG00000279481', 'score': 0.37}, {'connected_gene': 'GC04M145759', 'score': 0.23}, {'connected_gene': 'ZNF827', 'score': 0.13}]
chr4 GH04I145824 145824403 145824773 0.31 [{'connected_gene': 'MMAA', 'score': 4.24}, {'connected_gene': 'ENSG00000279481', 'score': 0.44}, {'connected_gene': 'GC04M145759', 'score': 0.21}, {'connected_gene': 'ZNF827', 'score': 0.14}]
chr4 GH04I145934 145934299 145940489 2.03 [{'connected_gene': 'ZNF827', 'score': 561.83}, {'connected_gene': 'GC04M145938', 'score': 550.77}, {'connected_gene': 'SLC10A7', 'score': 13.35}, {'connected_gene': 'LSM6', 'score': 10.03}, {'connected_gene': 'PIR42534', 'score': 0.39}]
chr4 GH04I146273 146273244 146273805 0.84 [{'connected_gene': 'ZNF827', 'score': 1.91}, {'connected_gene': 'LSM6', 'score': 1.85}, {'connected_gene': 'LOC105377472', 'score': 0.34}, {'connected_gene': 'ENSG00000251010', 'score': 0.29}, {'connected_gene': 'SLC10A7', 'score': 0.07}]
chr4 GH04I145842 145842749 145844169 0.66 [{'connected_gene': 'ZNF827', 'score': 8.12}, {'connected_gene': 'ENSG00000251687', 'score': 0.39}, {'connected_gene': 'PIR42534', 'score': 0.18}]
chr4 GH04I145886 145886873 145888658 0.74 [{'connected_gene': 'ZNF827', 'score': 9.4}, {'connected_gene': 'PIR42534', 'score': 0.28}, {'connected_gene': 'ENSG00000251687', 'score': 0.23}]
chr4 GH04I145880 145880489 145883641 0.69 [{'connected_gene': 'ZNF827', 'score': 8.39}, {'connected_gene': 'PIR42534', 'score': 0.26}, {'connected_gene': 'ENSG00000251687', 'score': 0.25}]
chr4 GH04I145803 145803424 145810335 1.64 [{'connected_gene': 'ENSG00000251687', 'score': 11.85}, {'connected_gene': 'C4orf51', 'score': 10.15}, {'connected_gene': 'ZNF827', 'score': 5.04}, {'connected_gene': 'ENSG00000279481', 'score': 0.31}, {'connected_gene': 'GC04M145759', 'score': 0.25}]
chr4 GH04I146269 146269388 146269629 0.73 [{'connected_gene': 'ENSG00000251010', 'score': 10.92}, {'connected_gene': 'REELD1', 'score': 9.85}, {'connected_gene': 'POU4F2', 'score': 9.32}, {'connected_gene': 'ZNF827', 'score': 1.53}, {'connected_gene': 'LSM6', 'score': 1.49}, {'connected_gene': 'LOC105377472', 'score': 0.31}, {'connected_gene': 'SLC10A7', 'score': 0.07}]
chr4 GH04I146271 146271501 146271752 0.73 [{'connected_gene': 'ENSG00000251010', 'score': 11.17}, {'connected_gene': 'ZNF827', 'score': 1.45}, {'connected_gene': 'SLC10A7', 'score': 1.25}, {'connected_gene': 'LOC105377472', 'score': 0.34}]
chr4 GH04I145814 145814302 145816392 0.66 [{'connected_gene': 'ENSG00000279481', 'score': 0.37}, {'connected_gene': 'GC04M145759', 'score': 0.22}, {'connected_gene': 'ZNF827', 'score': 0.13}]
chr4 GH04I145919 145919335 145921208 0.66 [{'connected_gene': 'PIR42534', 'score': 0.44}, {'connected_gene': 'ZNF827', 'score': 0.37}, {'connected_gene': 'ENSG00000251687', 'score': 0.17}]
chr4 GH04I145823 145823562 145824270 0.46 [{'connected_gene': 'ENSG00000279481', 'score': 0.44}, {'connected_gene': 'GC04M145759', 'score': 0.21}, {'connected_gene': 'ZNF827', 'score': 0.14}]
chr4 GH04I145929 145929810 145931654 0.56 [{'connected_gene': 'PIR42534', 'score': 0.77}, {'connected_gene': 'ZNF827', 'score': 0.44}]
chr4 GH04I145818 145818168 145821671 0.58 [{'connected_gene': 'ENSG00000279481', 'score': 0.39}, {'connected_gene': 'GC04M145759', 'score': 0.22}, {'connected_gene': 'ZNF827', 'score': 0.13}]
chr4 GH04I145907 145907401 145907600 0.2 [{'connected_gene': 'PIR42534', 'score': 0.37}, {'connected_gene': 'ZNF827', 'score': 0.29}, {'connected_gene': 'ENSG00000251687', 'score': 0.19}]
chr4 GH04I145908 145908785 145910477 0.76 [{'connected_gene': 'PIR42534', 'score': 0.37}, {'connected_gene': 'ZNF827', 'score': 0.31}, {'connected_gene': 'ENSG00000251687', 'score': 0.18}]
chr4 GH04I145827 145827978 145831200 0.92 [{'connected_gene': 'ENSG00000279481', 'score': 0.77}, {'connected_gene': 'GC04M145759', 'score': 0.2}, {'connected_gene': 'ZNF827', 'score': 0.14}]
chr4 GH04I145839 145839269 145839418 0.31 [{'connected_gene': 'ENSG00000251687', 'score': 0.44}, {'connected_gene': 'PIR42534', 'score': 0.17}, {'connected_gene': 'ZNF827', 'score': 0.15}]