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
ENST00000251808 [[102504659, 102505017], [102555468, 102555664], [102564942, 102565010], [102570646, 102571040], [102582566, 102582622], [102585895, 102586052], [102589635, 102589747], [102611284, 102611379], [102631766, 102631925], [102643864, 102643952], [102644453, 102644593], [102649124, 102649156], [102656358, 102656453], [102661641, 102661727], [102676681, 102676746], [102678816, 102681954]] [[102504997, 102505017], [102555468, 102555664], [102564942, 102565010], [102570646, 102571040], [102582566, 102582622], [102585895, 102586052], [102589635, 102589747], [102611284, 102611379], [102631766, 102631925], [102643864, 102643952], [102644453, 102644593], [102649124, 102649156], [102656358, 102656453], [102661641, 102661727], [102676681, 102676746], [102678816, 102678931]]
ENST00000395927 [[102504985, 102505077], [102555468, 102555664], [102564942, 102565010], [102570646, 102571040], [102582566, 102582622], [102585895, 102586052], [102589635, 102589747], [102611284, 102611379], [102631766, 102631925], [102643864, 102643952], [102644453, 102644593], [102649124, 102649156], [102656358, 102656453], [102661641, 102661727], [102676681, 102676746], [102678816, 102679121]] [[102555496, 102555664], [102564942, 102565010], [102570646, 102571040], [102582566, 102582622], [102585895, 102586052], [102589635, 102589747], [102611284, 102611379], [102631766, 102631925], [102643864, 102643952], [102644453, 102644593], [102649124, 102649156], [102656358, 102656453], [102661641, 102661727], [102676681, 102676746], [102678816, 102678931]]
ENST00000521085 [[102504666, 102504814], [102504929, 102505017]] [[102504997, 102505017]]
ENST00000472106 [[102504669, 102505017], [102555468, 102556298]] None
ENST00000517674 [[102644453, 102644593], [102649124, 102649156], [102656358, 102656453], [102676681, 102676738]] None
ENST00000474338 [[102648997, 102649156], [102656358, 102656453], [102661641, 102661727], [102676681, 102676729]] None
NM_001330593 [[102504666, 102505077], [102555468, 102555664], [102564942, 102565010], [102570646, 102571040], [102582566, 102582622], [102585895, 102586052], [102589635, 102589747], [102611284, 102611379], [102631766, 102631925], [102643864, 102643952], [102644453, 102644593], [102649124, 102649156], [102656358, 102656453], [102661641, 102661727], [102676681, 102676746], [102678816, 102681954]] [[102555496, 102555664], [102564942, 102565010], [102570646, 102571040], [102582566, 102582622], [102585895, 102586052], [102589635, 102589747], [102611284, 102611379], [102631766, 102631925], [102643864, 102643952], [102644453, 102644593], [102649124, 102649156], [102656358, 102656453], [102661641, 102661727], [102676681, 102676746], [102678816, 102678931]]
NM_024915 [[102504667, 102505017], [102555468, 102555664], [102564942, 102565010], [102570646, 102571040], [102582566, 102582622], [102585895, 102586052], [102589635, 102589747], [102611284, 102611379], [102631766, 102631925], [102643864, 102643952], [102644453, 102644593], [102649124, 102649156], [102656358, 102656453], [102661641, 102661727], [102676681, 102676746], [102678816, 102681954]] [[102504997, 102505017], [102555468, 102555664], [102564942, 102565010], [102570646, 102571040], [102582566, 102582622], [102585895, 102586052], [102589635, 102589747], [102611284, 102611379], [102631766, 102631925], [102643864, 102643952], [102644453, 102644593], [102649124, 102649156], [102656358, 102656453], [102661641, 102661727], [102676681, 102676746], [102678816, 102678931]]
Promoter
Chrom Start End Description
chr8 102504651 102504683 CAGE_peak_1_at_GRHL2_5end
chr8 102504690 102504704 CAGE_peak_3_at_GRHL2_5end
chr8 102504932 102504952 CAGE_peak_4_at_GRHL2_5end
chr8 102504979 102505010 CAGE_peak_2_at_GRHL2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I101062 101062734 101065304 1.44 [{'connected_gene': 'GRHL2', 'score': 1.81}, {'connected_gene': 'FLJ42969', 'score': 0.39}, {'connected_gene': 'LOC105375674', 'score': 0.21}]
chr8 GH08I101489 101489837 101495890 2.62 [{'connected_gene': 'GRHL2', 'score': 569.98}, {'connected_gene': 'LOC101927172', 'score': 550.77}, {'connected_gene': 'UBR5', 'score': 12.27}, {'connected_gene': 'PABPC1', 'score': 12.06}, {'connected_gene': 'LOC100131593', 'score': 0.28}]
chr8 GH08I101500 101500697 101506265 1.55 [{'connected_gene': 'GRHL2', 'score': 4.12}, {'connected_gene': 'LOC101927172', 'score': 0.39}, {'connected_gene': 'LOC100131593', 'score': 0.31}]
chr8 GH08I101436 101436091 101440578 1.48 [{'connected_gene': 'GRHL2', 'score': 3.86}, {'connected_gene': 'PIR38357', 'score': 0.39}, {'connected_gene': 'ENSG00000254084', 'score': 0.39}]
chr8 GH08I101025 101025405 101028838 1.61 [{'connected_gene': 'YWHAZ', 'score': 11.61}, {'connected_gene': 'FLJ42969', 'score': 7.9}, {'connected_gene': 'ZNF706', 'score': 5.58}, {'connected_gene': 'GRHL2', 'score': 2.06}, {'connected_gene': 'PABPC1', 'score': 1.39}, {'connected_gene': 'LOC401471', 'score': 0.37}]
chr8 GH08I101077 101077013 101081962 1.59 [{'connected_gene': 'YWHAZ', 'score': 11.66}, {'connected_gene': 'RN7SL685P', 'score': 11.66}, {'connected_gene': 'GRHL2', 'score': 1.49}, {'connected_gene': 'FLJ42969', 'score': 0.31}, {'connected_gene': 'LOC105375674', 'score': 0.25}]
chr8 GH08I101602 101602689 101605217 1.29 [{'connected_gene': 'UBR5', 'score': 11.71}, {'connected_gene': 'GC08P101620', 'score': 0.37}, {'connected_gene': 'GC08P101574', 'score': 0.31}, {'connected_gene': 'GRHL2', 'score': 0.14}]
chr8 GH08I101583 101583493 101583622 0.65 [{'connected_gene': 'UBR5', 'score': 12.27}, {'connected_gene': 'PABPC1', 'score': 12.06}, {'connected_gene': 'GC08P101574', 'score': 0.44}, {'connected_gene': 'GC08P101620', 'score': 0.28}, {'connected_gene': 'GRHL2', 'score': 0.16}]
chr8 GH08I101486 101486653 101486802 0.7 [{'connected_gene': 'UBR5', 'score': 12.27}, {'connected_gene': 'PABPC1', 'score': 12.06}, {'connected_gene': 'LOC101927172', 'score': 0.44}, {'connected_gene': 'GRHL2', 'score': 0.44}, {'connected_gene': 'ENSG00000254084', 'score': 0.29}]
chr8 GH08I101472 101472847 101476646 1.24 [{'connected_gene': 'UBR5', 'score': 11.7}, {'connected_gene': 'LOC101927172', 'score': 0.37}, {'connected_gene': 'GRHL2', 'score': 0.37}, {'connected_gene': 'ENSG00000254084', 'score': 0.34}]
chr8 GH08I101314 101314213 101314362 0.56 [{'connected_gene': 'PABPC1', 'score': 12.06}, {'connected_gene': 'LOC101927172', 'score': 9.86}, {'connected_gene': 'GRHL2', 'score': 9.86}, {'connected_gene': 'RNU7-67P', 'score': 0.44}, {'connected_gene': 'ENSG00000271560', 'score': 0.34}]
chr8 GH08I101332 101332493 101333720 1.26 [{'connected_gene': 'LOC101927172', 'score': 10.75}, {'connected_gene': 'GRHL2', 'score': 10.75}, {'connected_gene': 'NCALD', 'score': 9.47}, {'connected_gene': 'ENSG00000271560', 'score': 0.77}, {'connected_gene': 'RNU7-67P', 'score': 0.31}]
chr8 GH08I101355 101355894 101357340 0.52 [{'connected_gene': 'LOC101927172', 'score': 10.87}, {'connected_gene': 'GRHL2', 'score': 10.87}, {'connected_gene': 'NACAP1', 'score': 0.44}, {'connected_gene': 'ENSG00000271560', 'score': 0.37}]
chr8 GH08I101514 101514103 101515147 0.98 [{'connected_gene': 'LOC101927172', 'score': 12.42}, {'connected_gene': 'GRHL2', 'score': 12.42}, {'connected_gene': 'UBR5', 'score': 12.27}, {'connected_gene': 'PABPC1', 'score': 12.06}, {'connected_gene': 'LOC100131593', 'score': 0.39}]
chr8 GH08I101423 101423293 101424597 0.4 [{'connected_gene': 'LOC101927172', 'score': 11.39}, {'connected_gene': 'GRHL2', 'score': 11.39}, {'connected_gene': 'PIR38357', 'score': 0.77}, {'connected_gene': 'RN7SL563P', 'score': 0.31}, {'connected_gene': 'ENSG00000254084', 'score': 0.31}]
chr8 GH08I101385 101385854 101387039 0.79 [{'connected_gene': 'LOC101927172', 'score': 11.2}, {'connected_gene': 'GRHL2', 'score': 11.2}, {'connected_gene': 'LOC105375680', 'score': 0.44}, {'connected_gene': 'DUXAP2', 'score': 0.37}]
chr8 GH08I101310 101310913 101311082 0.46 [{'connected_gene': 'LOC101927172', 'score': 9.85}, {'connected_gene': 'GRHL2', 'score': 9.85}, {'connected_gene': 'RNU7-67P', 'score': 0.77}, {'connected_gene': 'ENSG00000271560', 'score': 0.31}]
chr8 GH08I101496 101496062 101498091 0.38 [{'connected_gene': 'LOC101927172', 'score': 0.77}, {'connected_gene': 'GRHL2', 'score': 0.77}, {'connected_gene': 'LOC100131593', 'score': 0.29}]
chr8 GH08I101501 101500153 101500282 0.43 [{'connected_gene': 'LOC101927172', 'score': 0.44}, {'connected_gene': 'GRHL2', 'score': 0.44}, {'connected_gene': 'LOC100131593', 'score': 0.31}]
chr8 GH08I101507 101507806 101509101 0.43 [{'connected_gene': 'LOC101927172', 'score': 0.37}, {'connected_gene': 'GRHL2', 'score': 0.37}, {'connected_gene': 'LOC100131593', 'score': 0.34}]
chr8 GH08I101516 101516073 101516158 0.87 [{'connected_gene': 'LOC101927172', 'score': 12.42}, {'connected_gene': 'GRHL2', 'score': 12.42}, {'connected_gene': 'LOC100131593', 'score': 0.39}]
chr8 GH08I101537 101537693 101539874 0.71 [{'connected_gene': 'LOC101927172', 'score': 11.12}, {'connected_gene': 'GRHL2', 'score': 11.12}, {'connected_gene': 'LOC100131593', 'score': 0.44}, {'connected_gene': 'ENSG00000253153', 'score': 0.34}]
chr8 GH08I101456 101456677 101457446 0.63 [{'connected_gene': 'LOC101927172', 'score': 11.39}, {'connected_gene': 'GRHL2', 'score': 11.39}, {'connected_gene': 'ENSG00000254084', 'score': 0.77}]
chr8 GH08I101488 101488290 101489300 0.58 [{'connected_gene': 'LOC101927172', 'score': 0.77}, {'connected_gene': 'GRHL2', 'score': 0.77}, {'connected_gene': 'ENSG00000254084', 'score': 0.28}]
chr8 GH08I101476 101476861 101477696 0.69 [{'connected_gene': 'LOC101927172', 'score': 0.37}, {'connected_gene': 'GRHL2', 'score': 0.37}, {'connected_gene': 'ENSG00000254084', 'score': 0.34}]
chr8 GH08I101458 101458706 101463566 1.15 [{'connected_gene': 'LOC101927172', 'score': 11.65}, {'connected_gene': 'GRHL2', 'score': 11.65}, {'connected_gene': 'ENSG00000254084', 'score': 0.44}]
chr8 GH08I101484 101484831 101485463 0.58 [{'connected_gene': 'LOC101927172', 'score': 0.44}, {'connected_gene': 'GRHL2', 'score': 0.44}, {'connected_gene': 'ENSG00000254084', 'score': 0.29}]
chr8 GH08I101469 101469846 101470751 0.63 [{'connected_gene': 'LOC101927172', 'score': 12.21}, {'connected_gene': 'GRHL2', 'score': 12.21}, {'connected_gene': 'ENSG00000254084', 'score': 0.37}]
chr8 GH08I101465 101465261 101468706 1.01 [{'connected_gene': 'LOC101927172', 'score': 11.7}, {'connected_gene': 'GRHL2', 'score': 11.7}, {'connected_gene': 'ENSG00000254084', 'score': 0.39}]
chr8 GH08I101485 101484393 101484442 0.2 [{'connected_gene': 'LOC101927172', 'score': 0.44}, {'connected_gene': 'GRHL2', 'score': 0.44}, {'connected_gene': 'ENSG00000254084', 'score': 0.29}]
chr8 GH08I101512 101512403 101513579 0.43 [{'connected_gene': 'LOC100131593', 'score': 0.37}, {'connected_gene': 'LOC101927172', 'score': 0.34}, {'connected_gene': 'GRHL2', 'score': 0.34}]
chr8 GH08I101531 101531220 101531417 0.51 [{'connected_gene': 'LOC100131593', 'score': 550.77}, {'connected_gene': 'LOC101927172', 'score': 11.17}, {'connected_gene': 'GRHL2', 'score': 11.17}, {'connected_gene': 'ENSG00000253153', 'score': 0.29}]
chr8 GH08I101449 101449151 101456469 1.54 [{'connected_gene': 'ENSG00000254084', 'score': 550.77}, {'connected_gene': 'GRHL2', 'score': 16.77}, {'connected_gene': 'UBR5', 'score': 15.72}, {'connected_gene': 'PABPC1', 'score': 12.06}, {'connected_gene': 'LOC101927172', 'score': 11.39}]
chr8 GH08I101632 101632593 101632782 0.69 [{'connected_gene': 'GC08P101620', 'score': 0.39}, {'connected_gene': 'ENSG00000253629', 'score': 0.23}, {'connected_gene': 'GRHL2', 'score': 0.11}]
chr8 GH08I101652 101652837 101653251 0.24 [{'connected_gene': 'ENSG00000253629', 'score': 11.36}, {'connected_gene': 'GC08P101620', 'score': 0.29}, {'connected_gene': 'GRHL2', 'score': 0.1}]
chr8 GH08I101573 101573033 101576569 0.89 [{'connected_gene': 'PIR61398', 'score': 550.77}, {'connected_gene': 'GC08P101574', 'score': 550.77}, {'connected_gene': 'ENSG00000253629', 'score': 9.58}, {'connected_gene': 'GRHL2', 'score': 0.18}]
chr8 GH08I101587 101587647 101589154 0.31 [{'connected_gene': 'ENSG00000253629', 'score': 10.18}, {'connected_gene': 'GC08P101574', 'score': 0.39}, {'connected_gene': 'GC08P101620', 'score': 0.29}, {'connected_gene': 'GRHL2', 'score': 0.15}]
chr8 GH08I101646 101646413 101646502 0.64 [{'connected_gene': 'ENSG00000253629', 'score': 11.33}, {'connected_gene': 'GC08P101620', 'score': 0.31}, {'connected_gene': 'GRHL2', 'score': 0.1}]
chr8 GH08I101626 101626935 101628076 0.2 [{'connected_gene': 'ENSG00000253629', 'score': 10.02}, {'connected_gene': 'GC08P101620', 'score': 0.44}, {'connected_gene': 'GRHL2', 'score': 0.12}]
chr8 GH08I101606 101606048 101609427 1.07 [{'connected_gene': 'GC08P101620', 'score': 0.39}, {'connected_gene': 'GC08P101574', 'score': 0.29}, {'connected_gene': 'GRHL2', 'score': 0.13}]
chr8 GH08I101599 101599350 101601613 0.79 [{'connected_gene': 'ENSG00000253629', 'score': 9.71}, {'connected_gene': 'GC08P101620', 'score': 0.34}, {'connected_gene': 'GC08P101574', 'score': 0.31}, {'connected_gene': 'GRHL2', 'score': 0.14}]
chr8 GH08I101635 101635243 101636585 0.94 [{'connected_gene': 'GC08P101620', 'score': 0.37}, {'connected_gene': 'ENSG00000253629', 'score': 0.23}, {'connected_gene': 'GRHL2', 'score': 0.11}]
chr8 GH08I101642 101642493 101642542 0.43 [{'connected_gene': 'GC08P101620', 'score': 0.34}, {'connected_gene': 'ENSG00000253629', 'score': 0.26}, {'connected_gene': 'GRHL2', 'score': 0.1}]
chr8 GH08I101631 101631367 101632546 0.62 [{'connected_gene': 'ENSG00000253629', 'score': 10.73}, {'connected_gene': 'LOC101927172', 'score': 10.37}, {'connected_gene': 'GRHL2', 'score': 10.37}, {'connected_gene': 'GC08P101620', 'score': 0.39}]