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
ENST00000522470 [[56608982, 56609393], [56637674, 56637818], [56663522, 56663693]] [[56637785, 56637818], [56663522, 56663693]]
ENST00000519460 [[56651316, 56652777], [56656039, 56656179], [56657619, 56658606]] None
ENST00000434581 [[56651316, 56652777], [56656039, 56656179], [56657619, 56657680], [56663522, 56663716], [56668802, 56668970], [56675193, 56675587], [56676494, 56676539], [56685827, 56685913]] [[56652690, 56652777], [56656039, 56656179], [56657619, 56657680], [56663522, 56663716], [56668802, 56668970], [56675193, 56675518]]
ENST00000334667 [[56651316, 56652777], [56663522, 56663716], [56668802, 56668970], [56675193, 56675587], [56676494, 56676539], [56685827, 56685966]] [[56652690, 56652777], [56663522, 56663716], [56668802, 56668970], [56675193, 56675518]]
ENST00000519784 [[56652259, 56652777], [56663522, 56663716], [56668802, 56668970], [56676494, 56676539], [56685827, 56685911]] [[56652690, 56652777], [56663522, 56663716], [56668802, 56668953]]
ENST00000517576 [[56652502, 56652777], [56656039, 56656179], [56663522, 56663716], [56668802, 56668944]] [[56656110, 56656179], [56663522, 56663716], [56668802, 56668944]]
ENST00000523073 [[56652730, 56652777], [56657619, 56657680], [56663522, 56663716], [56668802, 56668970], [56685827, 56685893]] [[56652748, 56652777], [56657619, 56657680], [56663522, 56663716], [56668802, 56668953]]
ENST00000519780 [[56656039, 56656179], [56657619, 56657680], [56663522, 56663716], [56668802, 56668970], [56676494, 56676539], [56685827, 56685926]] [[56656039, 56656179], [56657619, 56657680], [56663522, 56663716], [56668802, 56668953]]
ENST00000522090 [[56657636, 56657680], [56663522, 56663716], [56668802, 56668970], [56675193, 56675587], [56676494, 56676539], [56685785, 56685940]] [[56657636, 56657680], [56663522, 56663716], [56668802, 56668970], [56675193, 56675518]]
ENST00000520061 [[56657650, 56657680], [56663522, 56663716], [56663979, 56664105], [56668802, 56668970], [56675193, 56675334]] [[56664088, 56664105], [56668802, 56668970], [56675193, 56675334]]
ENST00000524121 [[56663445, 56663716], [56668802, 56668961]] None
ENST00000522030 [[56663609, 56663716], [56675193, 56675567]] [[56663609, 56663716], [56675193, 56675518]]
ENST00000523423 [[56668803, 56668970], [56675193, 56675587], [56676195, 56676260], [56676494, 56676539], [56685827, 56685866]] [[56668803, 56668970], [56675193, 56675518]]
ENST00000520414 [[56668916, 56668970], [56675193, 56675587], [56676494, 56676539], [56685534, 56685680]] [[56668916, 56668970], [56675193, 56675518]]
ENST00000521229 [[56673331, 56675587], [56676494, 56676539], [56685827, 56685926]] [[56675110, 56675518]]
ENST00000522576 [[56674958, 56675587], [56676494, 56676539], [56685785, 56685937]] [[56675110, 56675518]]
ENST00000523180 [[56675512, 56675587], [56675980, 56676260], [56676494, 56676539], [56685827, 56685937]] [[56675512, 56675518]]
NM_001286657 [[56651302, 56652777], [56656039, 56656179], [56657619, 56657680], [56663522, 56663716], [56668802, 56668970], [56675193, 56675587], [56676494, 56676539]] [[56652690, 56652777], [56656039, 56656179], [56657619, 56657680], [56663522, 56663716], [56668802, 56668970], [56675193, 56675518]]
NM_152417 [[56651302, 56652777], [56663522, 56663716], [56668802, 56668970], [56675193, 56675587], [56676494, 56676539], [56685827, 56685966]] [[56652690, 56652777], [56663522, 56663716], [56668802, 56668970], [56675193, 56675518]]
NM_001286661 [[56651302, 56652777], [56657619, 56657680], [56663522, 56663716], [56668802, 56668970], [56685827, 56685966]] [[56652748, 56652777], [56657619, 56657680], [56663522, 56663716], [56668802, 56668953]]
NM_001286660 [[56673331, 56675587], [56676494, 56676539], [56685827, 56685966]] [[56675110, 56675518]]
Promoter
Chrom Start End Description
chr8 56658873 56658877 CAGE_peak_4_at_TMEM68_5end
chr8 56685859 56685945 CAGE_peak_1_at_TMEM68_5end
chr8 56685950 56685963 CAGE_peak_2_at_TMEM68_5end
chr8 56685966 56685976 CAGE_peak_3_at_TMEM68_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I055843 55842002 55842159 0.4 [{'connected_gene': 'LYN', 'score': 13.5}, {'connected_gene': 'PENK', 'score': 4.69}, {'connected_gene': 'GC08P055855', 'score': 0.39}, {'connected_gene': 'TMEM68', 'score': 0.2}]
chr8 GH08I055846 55846888 55848962 1.38 [{'connected_gene': 'LYN', 'score': 17.61}, {'connected_gene': 'TGS1', 'score': 5.59}, {'connected_gene': 'TMEM68', 'score': 4.68}, {'connected_gene': 'PENK', 'score': 4.68}, {'connected_gene': 'GC08P055855', 'score': 0.44}]
chr8 GH08I055851 55851191 55854502 1.4 [{'connected_gene': 'LYN', 'score': 27.23}, {'connected_gene': 'TGS1', 'score': 5.77}, {'connected_gene': 'TMEM68', 'score': 5.02}, {'connected_gene': 'PENK', 'score': 4.85}, {'connected_gene': 'GC08P055855', 'score': 0.77}]
chr8 GH08I055830 55830029 55830814 0.31 [{'connected_gene': 'LYN', 'score': 13.0}, {'connected_gene': 'TGS1', 'score': 6.64}, {'connected_gene': 'GC08P055855', 'score': 0.31}, {'connected_gene': 'TMEM68', 'score': 0.22}]
chr8 GH08I055987 55987793 55994894 1.63 [{'connected_gene': 'LYN', 'score': 28.56}, {'connected_gene': 'TMEM68', 'score': 10.95}, {'connected_gene': 'TGS1', 'score': 10.95}, {'connected_gene': 'RPS20', 'score': 8.42}, {'connected_gene': 'PSMC6P1', 'score': 8.36}, {'connected_gene': 'RN7SL798P', 'score': 0.39}, {'connected_gene': 'GC08P056003', 'score': 0.39}]
chr8 GH08I056004 56004715 56007750 1.34 [{'connected_gene': 'LYN', 'score': 11.01}, {'connected_gene': 'TMEM68', 'score': 10.54}, {'connected_gene': 'TGS1', 'score': 10.54}, {'connected_gene': 'RPS20', 'score': 7.71}, {'connected_gene': 'GC08P056003', 'score': 0.77}, {'connected_gene': 'RN7SL323P', 'score': 0.37}]
chr8 GH08I055842 55842465 55846661 1.63 [{'connected_gene': 'LYN', 'score': 30.29}, {'connected_gene': 'TMEM68', 'score': 16.12}, {'connected_gene': 'TGS1', 'score': 5.58}, {'connected_gene': 'GC08P055855', 'score': 0.39}]
chr8 GH08I055877 55877870 55887411 2.52 [{'connected_gene': 'LYN', 'score': 610.78}, {'connected_gene': 'TMEM68', 'score': 4.42}, {'connected_gene': 'ENSG00000254325', 'score': 0.39}]
chr8 GH08I055831 55831761 55831832 0.22 [{'connected_gene': 'TGS1', 'score': 13.68}, {'connected_gene': 'LYN', 'score': 12.52}, {'connected_gene': 'GC08P055855', 'score': 0.34}, {'connected_gene': 'TMEM68', 'score': 0.22}]
chr8 GH08I055771 55771382 55775356 2.09 [{'connected_gene': 'TGS1', 'score': 605.02}, {'connected_gene': 'TMEM68', 'score': 568.52}, {'connected_gene': 'RPS20', 'score': 13.16}, {'connected_gene': 'LYN', 'score': 12.59}]
chr8 GH08I055839 55839691 55841680 0.87 [{'connected_gene': 'TGS1', 'score': 15.08}, {'connected_gene': 'TMEM68', 'score': 14.9}, {'connected_gene': 'LYN', 'score': 13.5}, {'connected_gene': 'GC08P055855', 'score': 0.37}]
chr8 GH08I055764 55764630 55764858 0.2 [{'connected_gene': 'TGS1', 'score': 15.88}, {'connected_gene': 'TMEM68', 'score': 0.44}, {'connected_gene': 'RNA5SP265', 'score': 0.37}]
chr8 GH08I055763 55763948 55764007 0.5 [{'connected_gene': 'TMEM68', 'score': 566.71}, {'connected_gene': 'RPS20', 'score': 4.77}, {'connected_gene': 'TGS1', 'score': 0.44}, {'connected_gene': 'RNA5SP265', 'score': 0.37}]
chr8 GH08I056009 56009479 56010571 0.52 [{'connected_gene': 'TMEM68', 'score': 10.53}, {'connected_gene': 'TGS1', 'score': 10.53}, {'connected_gene': 'RPS20', 'score': 6.81}, {'connected_gene': 'GC08P056003', 'score': 0.44}, {'connected_gene': 'RN7SL323P', 'score': 0.39}, {'connected_gene': 'LYN', 'score': 0.12}]
chr8 GH08I055760 55760910 55761836 0.66 [{'connected_gene': 'TMEM68', 'score': 16.67}, {'connected_gene': 'TGS1', 'score': 16.52}, {'connected_gene': 'RNA5SP265', 'score': 0.37}]
chr8 GH08I055815 55815182 55815311 0.57 [{'connected_gene': 'GC08P055855', 'score': 0.26}, {'connected_gene': 'TMEM68', 'score': 0.26}, {'connected_gene': 'TGS1', 'score': 0.26}]
chr8 GH08I055818 55818942 55819071 0.54 [{'connected_gene': 'GC08P055855', 'score': 0.28}, {'connected_gene': 'TMEM68', 'score': 0.25}, {'connected_gene': 'TGS1', 'score': 0.25}]
chr8 GH08I055859 55859101 55860179 0.2 [{'connected_gene': 'GC08P055857', 'score': 550.77}, {'connected_gene': 'TMEM68', 'score': 4.23}, {'connected_gene': 'GC08M055863', 'score': 0.77}]