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
ENST00000392903 [[118643741, 118643825], [118645884, 118646077], [118661275, 118661468], [118666137, 118666258], [118671300, 118671354], [118674885, 118674995], [118680944, 118681027], [118687302, 118687402], [118689359, 118689513], [118699976, 118700123], [118704434, 118704529], [118708426, 118708508], [118711419, 118711517], [118713552, 118713721], [118719646, 118719741], [118728162, 118728223], [118738766, 118738819], [118764532, 118765088]] [[118643741, 118643825], [118645884, 118646077], [118661275, 118661468], [118666137, 118666258], [118671300, 118671354], [118674885, 118674995], [118680944, 118681027], [118687302, 118687402], [118689359, 118689513], [118699976, 118700123], [118704434, 118704529], [118708426, 118708508], [118711419, 118711517], [118713552, 118713721], [118719646, 118719741], [118728162, 118728223], [118738766, 118738819], [118764532, 118764590]]
ENST00000260777 [[118644307, 118646077], [118671300, 118671354], [118674885, 118674995], [118680944, 118681027], [118687302, 118687402], [118689359, 118689513], [118699976, 118700123], [118704434, 118704529], [118708426, 118708508], [118711419, 118711517], [118713552, 118713721], [118719646, 118719741], [118728162, 118728223], [118738766, 118738819], [118764532, 118764876]] [[118646065, 118646077], [118671300, 118671354], [118674885, 118674995], [118680944, 118681027], [118687302, 118687402], [118689359, 118689513], [118699976, 118700123], [118704434, 118704529], [118708426, 118708508], [118711419, 118711517], [118713552, 118713721], [118719646, 118719741], [118728162, 118728223], [118738766, 118738819], [118764532, 118764590]]
ENST00000355371 [[118644307, 118646077], [118661275, 118661468], [118666137, 118666258], [118671300, 118671354], [118674885, 118674995], [118680944, 118681027], [118687302, 118687402], [118689359, 118689513], [118699976, 118700123], [118704434, 118704529], [118708426, 118708508], [118711419, 118711517], [118713552, 118713721], [118719646, 118719741], [118728162, 118728223], [118738766, 118738819], [118764532, 118765088]] [[118645854, 118646077], [118661275, 118661468], [118666137, 118666258], [118671300, 118671354], [118674885, 118674995], [118680944, 118681027], [118687302, 118687402], [118689359, 118689513], [118699976, 118700123], [118704434, 118704529], [118708426, 118708508], [118711419, 118711517], [118713552, 118713721], [118719646, 118719741], [118728162, 118728223], [118738766, 118738819], [118764532, 118764590]]
ENST00000392901 [[118659822, 118660051], [118661275, 118661468], [118666137, 118666258], [118671300, 118671354], [118674885, 118674995], [118680944, 118681027], [118687302, 118687402], [118689359, 118689513], [118699976, 118700123], [118704434, 118704529], [118708426, 118708508], [118711419, 118711517], [118713552, 118713721], [118719646, 118719741], [118728162, 118728223], [118738766, 118738819], [118807955, 118808021], [118885817, 118886097]] [[118660047, 118660051], [118661275, 118661468], [118666137, 118666258], [118671300, 118671354], [118674885, 118674995], [118680944, 118681027], [118687302, 118687402], [118689359, 118689513], [118699976, 118700123], [118704434, 118704529], [118708426, 118708508], [118711419, 118711517], [118713552, 118713721], [118719646, 118719733]]
ENST00000497044 [[118644307, 118646077], [118661275, 118661468], [118666137, 118666258], [118671300, 118671354], [118674885, 118674995], [118680944, 118681027], [118687302, 118687402], [118689359, 118689513], [118699976, 118700123], [118704434, 118704529], [118708426, 118708508], [118711419, 118711517], [118713552, 118713721], [118719646, 118719741], [118728162, 118728223], [118733366, 118733681]] None
ENST00000490615 [[118713559, 118713721], [118719646, 118719842]] None
NM_001127211 [[118642887, 118646077], [118661275, 118661468], [118666137, 118666258], [118671300, 118671354], [118674885, 118674995], [118680944, 118681027], [118687302, 118687402], [118689359, 118689513], [118699976, 118700123], [118704434, 118704529], [118708426, 118708508], [118711419, 118711517], [118713552, 118713721], [118719646, 118719741], [118728162, 118728223], [118738766, 118738819], [118764532, 118765088]] [[118645854, 118646077], [118661275, 118661468], [118666137, 118666258], [118671300, 118671354], [118674885, 118674995], [118680944, 118681027], [118687302, 118687402], [118689359, 118689513], [118699976, 118700123], [118704434, 118704529], [118708426, 118708508], [118711419, 118711517], [118713552, 118713721], [118719646, 118719741], [118728162, 118728223], [118738766, 118738819], [118764532, 118764590]]
NM_018330 [[118642887, 118646077], [118671300, 118671354], [118674885, 118674995], [118680944, 118681027], [118687302, 118687402], [118689359, 118689513], [118699976, 118700123], [118704434, 118704529], [118708426, 118708508], [118711419, 118711517], [118713552, 118713721], [118719646, 118719741], [118728162, 118728223], [118738766, 118738819], [118764532, 118765088]] [[118646065, 118646077], [118671300, 118671354], [118674885, 118674995], [118680944, 118681027], [118687302, 118687402], [118689359, 118689513], [118699976, 118700123], [118704434, 118704529], [118708426, 118708508], [118711419, 118711517], [118713552, 118713721], [118719646, 118719741], [118728162, 118728223], [118738766, 118738819], [118764532, 118764590]]
NM_001258298 [[118642887, 118646077], [118661275, 118661468], [118666137, 118666258], [118671300, 118671354], [118674885, 118674995], [118680944, 118681027], [118687302, 118687402], [118689359, 118689513], [118699976, 118700123], [118704434, 118704529], [118708426, 118708508], [118711419, 118711517], [118713552, 118713721], [118719646, 118719741], [118728162, 118728223], [118764532, 118765088]] [[118645854, 118646077], [118661275, 118661468], [118666137, 118666258], [118671300, 118671354], [118674885, 118674995], [118680944, 118681027], [118687302, 118687402], [118689359, 118689513], [118699976, 118700123], [118704434, 118704529], [118708426, 118708508], [118711419, 118711517], [118713552, 118713721], [118719646, 118719733]]
NM_001258299 [[118659822, 118660051], [118661275, 118661468], [118666137, 118666258], [118671300, 118671354], [118674885, 118674995], [118680944, 118681027], [118687302, 118687402], [118689359, 118689513], [118699976, 118700123], [118704434, 118704529], [118708426, 118708508], [118711419, 118711517], [118713552, 118713721], [118719646, 118719741], [118728162, 118728223], [118738766, 118738819], [118764532, 118765088]] [[118660047, 118660051], [118661275, 118661468], [118666137, 118666258], [118671300, 118671354], [118674885, 118674995], [118680944, 118681027], [118687302, 118687402], [118689359, 118689513], [118699976, 118700123], [118704434, 118704529], [118708426, 118708508], [118711419, 118711517], [118713552, 118713721], [118719646, 118719741], [118728162, 118728223], [118738766, 118738819], [118764532, 118764590]]
NM_001258300 [[118659822, 118660051], [118661275, 118661468], [118666137, 118666258], [118671300, 118671354], [118674885, 118674995], [118680944, 118681027], [118687302, 118687402], [118689359, 118689513], [118699976, 118700123], [118704434, 118704529], [118708426, 118708508], [118711419, 118711517], [118713552, 118713721], [118719646, 118719741], [118728162, 118728223], [118738766, 118738819], [118807955, 118808021], [118885817, 118886097]] [[118660047, 118660051], [118661275, 118661468], [118666137, 118666258], [118671300, 118671354], [118674885, 118674995], [118680944, 118681027], [118687302, 118687402], [118689359, 118689513], [118699976, 118700123], [118704434, 118704529], [118708426, 118708508], [118711419, 118711517], [118713552, 118713721], [118719646, 118719733]]
Promoter
Chrom Start End Description
chr10 118719680 118719720 CAGE_peak_10_at_KIAA1598_5end
chr10 118719724 118719735 CAGE_peak_14_at_KIAA1598_5end
chr10 118719743 118719755 CAGE_peak_13_at_KIAA1598_5end
chr10 118764578 118764601 CAGE_peak_4_at_KIAA1598_5end
chr10 118764606 118764617 CAGE_peak_9_at_KIAA1598_5end
chr10 118764649 118764683 CAGE_peak_2_at_KIAA1598_5end
chr10 118764684 118764710 CAGE_peak_1_at_KIAA1598_5end
chr10 118764743 118764760 CAGE_peak_7_at_KIAA1598_5end
chr10 118764785 118764802 CAGE_peak_5_at_KIAA1598_5end
chr10 118764805 118764816 CAGE_peak_8_at_KIAA1598_5end
chr10 118764862 118764887 CAGE_peak_6_at_KIAA1598_5end
chr10 118764892 118764916 CAGE_peak_3_at_KIAA1598_5end
chr10 118765081 118765109 CAGE_peak_11_at_KIAA1598_5end
chr10 118765117 118765135 CAGE_peak_12_at_KIAA1598_5end
chr10 118885954 118885990 CAGE_peak_16_at_KIAA1598_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I116996 116996781 116997901 0.69 [{'connected_gene': 'SHTN1', 'score': 49.97}, {'connected_gene': 'ENSG00000225302', 'score': 10.85}, {'connected_gene': 'ENO4', 'score': 10.85}, {'connected_gene': 'ENSG00000235742', 'score': 0.31}, {'connected_gene': 'HSPA12A', 'score': 0.11}]
chr10 GH10I116891 116891390 116891539 0.72 [{'connected_gene': 'SHTN1', 'score': 48.39}, {'connected_gene': 'ENSG00000225302', 'score': 11.25}, {'connected_gene': 'ENO4', 'score': 11.25}, {'connected_gene': 'HSPA12A', 'score': 0.26}, {'connected_gene': 'ENSG00000235742', 'score': 0.12}]
chr10 GH10I116999 116999907 117001689 0.38 [{'connected_gene': 'SHTN1', 'score': 30.19}, {'connected_gene': 'ENSG00000225302', 'score': 10.84}, {'connected_gene': 'ENO4', 'score': 10.84}, {'connected_gene': 'ENSG00000235742', 'score': 0.34}, {'connected_gene': 'HSPA12A', 'score': 0.11}]
chr10 GH10I116887 116887915 116889632 0.97 [{'connected_gene': 'SHTN1', 'score': 37.77}, {'connected_gene': 'ENSG00000225302', 'score': 11.3}, {'connected_gene': 'ENO4', 'score': 11.3}, {'connected_gene': 'HSPA12A', 'score': 0.28}, {'connected_gene': 'ENSG00000235742', 'score': 0.12}]
chr10 GH10I116984 116984325 116984469 0.69 [{'connected_gene': 'SHTN1', 'score': 4.35}, {'connected_gene': 'KCNK18', 'score': 2.51}, {'connected_gene': 'HSPA12A', 'score': 1.76}, {'connected_gene': 'PNLIP', 'score': 1.72}, {'connected_gene': 'PNLIPRP2', 'score': 1.64}, {'connected_gene': 'PNLIPRP1', 'score': 1.62}, {'connected_gene': 'VAX1', 'score': 1.37}, {'connected_gene': 'ENSG00000235742', 'score': 0.28}]
chr10 GH10I116942 116942723 116944739 0.2 [{'connected_gene': 'SHTN1', 'score': 27.25}, {'connected_gene': 'ENSG00000235742', 'score': 0.18}, {'connected_gene': 'HSPA12A', 'score': 0.16}, {'connected_gene': 'ENO4', 'score': 0.16}]
chr10 GH10I116974 116974016 116975625 1.24 [{'connected_gene': 'SHTN1', 'score': 30.6}, {'connected_gene': 'ENSG00000235742', 'score': 0.25}, {'connected_gene': 'HSPA12A', 'score': 0.13}]
chr10 GH10I116989 116989556 116990821 0.63 [{'connected_gene': 'SHTN1', 'score': 29.36}, {'connected_gene': 'ENSG00000235742', 'score': 0.29}, {'connected_gene': 'HSPA12A', 'score': 0.12}]
chr10 GH10I116965 116965985 116970819 0.54 [{'connected_gene': 'SHTN1', 'score': 30.5}, {'connected_gene': 'ENSG00000235742', 'score': 0.22}, {'connected_gene': 'HSPA12A', 'score': 0.13}]
chr10 GH10I116986 116986866 116987707 0.38 [{'connected_gene': 'SHTN1', 'score': 6.22}, {'connected_gene': 'ENSG00000235742', 'score': 0.28}, {'connected_gene': 'HSPA12A', 'score': 0.12}]
chr10 GH10I116978 116978606 116980055 0.2 [{'connected_gene': 'SHTN1', 'score': 35.41}, {'connected_gene': 'ENSG00000235742', 'score': 0.26}, {'connected_gene': 'HSPA12A', 'score': 0.13}]
chr10 GH10I116950 116950266 116953394 0.31 [{'connected_gene': 'SHTN1', 'score': 54.22}, {'connected_gene': 'ENSG00000235742', 'score': 0.19}, {'connected_gene': 'HSPA12A', 'score': 0.15}]
chr10 GH10I116954 116954066 116956421 0.2 [{'connected_gene': 'SHTN1', 'score': 52.22}, {'connected_gene': 'HSPA12A', 'score': 4.97}, {'connected_gene': 'ENSG00000235742', 'score': 0.2}]
chr10 GH10I116977 116977090 116977755 0.31 [{'connected_gene': 'SHTN1', 'score': 49.95}, {'connected_gene': 'ENSG00000235742', 'score': 0.25}, {'connected_gene': 'HSPA12A', 'score': 0.13}]
chr10 GH10I117003 117003963 117007759 2.43 [{'connected_gene': 'SHTN1', 'score': 597.62}, {'connected_gene': 'ENSG00000235742', 'score': 0.37}, {'connected_gene': 'HSPA12A', 'score': 0.1}]
chr10 GH10I116946 116946737 116948933 1.25 [{'connected_gene': 'SHTN1', 'score': 6.76}, {'connected_gene': 'ENSG00000235742', 'score': 0.18}, {'connected_gene': 'HSPA12A', 'score': 0.15}]
chr10 GH10I116991 116991160 116992907 0.43 [{'connected_gene': 'SHTN1', 'score': 50.02}, {'connected_gene': 'ENSG00000235742', 'score': 0.29}, {'connected_gene': 'HSPA12A', 'score': 0.11}]
chr10 GH10I117096 117096186 117097238 0.71 [{'connected_gene': 'SHTN1', 'score': 0.31}, {'connected_gene': 'ENSG00000235742', 'score': 0.19}]
chr10 GH10I117094 117094613 117095732 0.51 [{'connected_gene': 'SHTN1', 'score': 14.62}, {'connected_gene': 'ENSG00000235742', 'score': 0.19}]
chr10 GH10I117070 117070311 117070391 0.22 [{'connected_gene': 'KCNK18', 'score': 2.0}, {'connected_gene': 'SHTN1', 'score': 1.94}, {'connected_gene': 'C10orf82', 'score': 1.24}, {'connected_gene': 'ENSG00000235742', 'score': 0.25}]
chr10 GH10I117496 117496630 117496879 1.06 [{'connected_gene': 'KCNK18', 'score': 2.08}, {'connected_gene': 'EMX2', 'score': 1.93}, {'connected_gene': 'SHTN1', 'score': 1.53}, {'connected_gene': 'GC10P117520', 'score': 0.34}, {'connected_gene': 'EMX2OS', 'score': 0.25}, {'connected_gene': 'LOC105378502', 'score': 0.19}]
chr10 GH10I117139 117137150 117137299 0.73 [{'connected_gene': 'VAX1', 'score': 550.77}, {'connected_gene': 'SHTN1', 'score': 12.7}]
chr10 GH10I117136 117136770 117136919 0.54 [{'connected_gene': 'VAX1', 'score': 550.77}, {'connected_gene': 'ENSG00000231104', 'score': 9.79}, {'connected_gene': 'SHTN1', 'score': 0.39}]
chr10 GH10I117134 117134846 117135170 0.5 [{'connected_gene': 'VAX1', 'score': 3.26}, {'connected_gene': 'SHTN1', 'score': 0.44}]
chr10 GH10I117142 117137690 117137839 0.69 [{'connected_gene': 'VAX1', 'score': 550.77}, {'connected_gene': 'SHTN1', 'score': 0.39}]
chr10 GH10I117140 117138032 117138091 0.84 [{'connected_gene': 'VAX1', 'score': 550.77}, {'connected_gene': 'SHTN1', 'score': 0.39}]
chr10 GH10I117137 117137390 117137539 0.77 [{'connected_gene': 'VAX1', 'score': 550.77}, {'connected_gene': 'SHTN1', 'score': 0.39}]
chr10 GH10I116995 116995745 116995899 0.42 [{'connected_gene': 'ENSG00000235742', 'score': 0.31}, {'connected_gene': 'SHTN1', 'score': 0.12}, {'connected_gene': 'HSPA12A', 'score': 0.11}]
chr10 GH10I117002 117002440 117003069 0.49 [{'connected_gene': 'ENSG00000235742', 'score': 0.34}, {'connected_gene': 'SHTN1', 'score': 0.13}, {'connected_gene': 'HSPA12A', 'score': 0.1}]
chr10 GH10I117004 117003450 117003619 1.01 [{'connected_gene': 'ENSG00000235742', 'score': 0.34}, {'connected_gene': 'SHTN1', 'score': 0.13}, {'connected_gene': 'HSPA12A', 'score': 0.1}]
chr10 GH10I116883 116883615 116883786 0.26 [{'connected_gene': 'ENSG00000225302', 'score': 11.33}, {'connected_gene': 'ENO4', 'score': 11.33}, {'connected_gene': 'SHTN1', 'score': 2.45}, {'connected_gene': 'HSPA12A', 'score': 0.29}, {'connected_gene': 'ENSG00000235742', 'score': 0.11}]
chr10 GH10I116964 116962076 116962375 0.78 [{'connected_gene': 'ENSG00000225302', 'score': 10.29}, {'connected_gene': 'ENO4', 'score': 10.29}, {'connected_gene': 'ENSG00000235742', 'score': 0.21}, {'connected_gene': 'HSPA12A', 'score': 0.14}, {'connected_gene': 'SHTN1', 'score': 0.1}]
chr10 GH10I116963 116961333 116961632 0.97 [{'connected_gene': 'ENSG00000225302', 'score': 10.29}, {'connected_gene': 'ENO4', 'score': 10.29}, {'connected_gene': 'ENSG00000235742', 'score': 0.21}, {'connected_gene': 'HSPA12A', 'score': 0.14}, {'connected_gene': 'SHTN1', 'score': 0.1}]
chr10 GH10I116961 116961653 116962050 0.92 [{'connected_gene': 'ENSG00000225302', 'score': 10.29}, {'connected_gene': 'ENO4', 'score': 10.29}, {'connected_gene': 'ENSG00000235742', 'score': 0.21}, {'connected_gene': 'HSPA12A', 'score': 0.14}, {'connected_gene': 'SHTN1', 'score': 0.1}]
chr10 GH10I116962 116962517 116963008 0.2 [{'connected_gene': 'ENSG00000225302', 'score': 10.29}, {'connected_gene': 'ENO4', 'score': 10.29}, {'connected_gene': 'ENSG00000235742', 'score': 0.21}, {'connected_gene': 'HSPA12A', 'score': 0.14}, {'connected_gene': 'SHTN1', 'score': 0.1}]
chr10 GH10I116944 116944914 116945852 0.31 [{'connected_gene': 'ENSG00000235742', 'score': 0.18}, {'connected_gene': 'HSPA12A', 'score': 0.16}, {'connected_gene': 'SHTN1', 'score': 0.09}]
chr10 GH10I116982 116982984 116983528 0.43 [{'connected_gene': 'ENSG00000235742', 'score': 0.26}, {'connected_gene': 'HSPA12A', 'score': 0.12}, {'connected_gene': 'SHTN1', 'score': 0.11}]
chr10 GH10I116983 116982190 116982707 0.43 [{'connected_gene': 'ENSG00000235742', 'score': 0.26}, {'connected_gene': 'HSPA12A', 'score': 0.12}, {'connected_gene': 'SHTN1', 'score': 0.11}]
chr10 GH10I116959 116959533 116960483 0.31 [{'connected_gene': 'ENSG00000235742', 'score': 0.21}, {'connected_gene': 'HSPA12A', 'score': 0.14}, {'connected_gene': 'SHTN1', 'score': 0.1}]
chr10 GH10I116847 116847584 116850575 1.9 [{'connected_gene': 'ENSG00000225302', 'score': 550.77}, {'connected_gene': 'HSPA12A', 'score': 550.77}, {'connected_gene': 'ENO4', 'score': 550.77}, {'connected_gene': 'SHTN1', 'score': 17.96}, {'connected_gene': 'PIR57757', 'score': 0.37}]

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