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
ENST00000519728 [[56792371, 56792662], [56854413, 56854550], [56859006, 56859052], [56860176, 56860282], [56863017, 56863116], [56863239, 56863343], [56864524, 56864674], [56866390, 56866543], [56879273, 56879456], [56882275, 56882352], [56910904, 56911058], [56911976, 56912108], [56922466, 56923131]] [[56854418, 56854550], [56859006, 56859052], [56860176, 56860282], [56863017, 56863116], [56863239, 56863343], [56864524, 56864674], [56866390, 56866543], [56879273, 56879456], [56882275, 56882352], [56910904, 56911058], [56911976, 56912108], [56922466, 56922669]]
ENST00000520220 [[56792393, 56792662], [56854413, 56854487], [56859006, 56859052], [56860176, 56860282], [56863017, 56863116], [56863239, 56863343], [56864524, 56864674], [56866390, 56866543], [56879273, 56879456], [56882275, 56882352], [56910904, 56911058], [56911976, 56912108], [56922466, 56923940]] [[56854418, 56854487], [56859006, 56859052], [56860176, 56860282], [56863017, 56863116], [56863239, 56863343], [56864524, 56864674], [56866390, 56866543], [56879273, 56879456], [56882275, 56882352], [56910904, 56911058], [56911976, 56912108], [56922466, 56922669]]
ENST00000420292 [[56867654, 56867852], [56879273, 56879456], [56882275, 56882352], [56910904, 56911007]] None
ENST00000520050 [[56852792, 56852886], [56854413, 56854550], [56859006, 56859052], [56860176, 56860282], [56863017, 56863116], [56863239, 56863307]] [[56854418, 56854550], [56859006, 56859052], [56860176, 56860282], [56863017, 56863116], [56863239, 56863307]]
NM_001111097 [[56792385, 56792662], [56854413, 56854487], [56859006, 56859052], [56860176, 56860282], [56863017, 56863116], [56863239, 56863343], [56864524, 56864674], [56866390, 56866543], [56879273, 56879456], [56882275, 56882352], [56910904, 56911058], [56911976, 56912108], [56922466, 56925006]] [[56854418, 56854487], [56859006, 56859052], [56860176, 56860282], [56863017, 56863116], [56863239, 56863343], [56864524, 56864674], [56866390, 56866543], [56879273, 56879456], [56882275, 56882352], [56910904, 56911058], [56911976, 56912108], [56922466, 56922669]]
NM_002350 [[56792385, 56792662], [56854413, 56854550], [56859006, 56859052], [56860176, 56860282], [56863017, 56863116], [56863239, 56863343], [56864524, 56864674], [56866390, 56866543], [56879273, 56879456], [56882275, 56882352], [56910904, 56911058], [56911976, 56912108], [56922466, 56925006]] [[56854418, 56854550], [56859006, 56859052], [56860176, 56860282], [56863017, 56863116], [56863239, 56863343], [56864524, 56864674], [56866390, 56866543], [56879273, 56879456], [56882275, 56882352], [56910904, 56911058], [56911976, 56912108], [56922466, 56922669]]
Promoter
Chrom Start End Description
chr8 56792355 56792369 CAGE_peak_2_at_LYN_5end
chr8 56792377 56792404 CAGE_peak_1_at_LYN_5end
chr8 56864609 56864615 CAGE_peak_3_at_LYN_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I055963 55963468 55963930 0.82 [{'connected_gene': 'RPS20', 'score': 8.95}, {'connected_gene': 'LYN', 'score': 4.59}, {'connected_gene': 'RN7SL798P', 'score': 0.37}, {'connected_gene': 'GC08P055943', 'score': 0.37}]
chr8 GH08I055933 55933176 55933995 0.38 [{'connected_gene': 'RPS20', 'score': 5.83}, {'connected_gene': 'LYN', 'score': 5.49}, {'connected_gene': 'GC08P055928', 'score': 0.77}, {'connected_gene': 'GC08P055943', 'score': 0.39}]
chr8 GH08I055947 55947511 55949124 0.82 [{'connected_gene': 'RPS20', 'score': 4.9}, {'connected_gene': 'GC08P055943', 'score': 0.77}, {'connected_gene': 'RN7SL798P', 'score': 0.29}, {'connected_gene': 'LYN', 'score': 0.2}]
chr8 GH08I055905 55905531 55907903 0.78 [{'connected_gene': 'PENK', 'score': 4.84}, {'connected_gene': 'LYN', 'score': 4.66}, {'connected_gene': 'GC08M055904', 'score': 0.77}, {'connected_gene': 'SNORA1B', 'score': 0.77}, {'connected_gene': 'GC08P055928', 'score': 0.34}]
chr8 GH08I055921 55921296 55931331 1.63 [{'connected_gene': 'LYN', 'score': 25.62}, {'connected_gene': 'RPS20', 'score': 6.5}, {'connected_gene': 'GC08P055928', 'score': 0.77}, {'connected_gene': 'GC08M055904', 'score': 0.34}, {'connected_gene': 'SNORA1B', 'score': 0.34}]
chr8 GH08I055957 55957644 55958368 0.38 [{'connected_gene': 'LYN', 'score': 11.33}, {'connected_gene': 'RPS20', 'score': 4.36}, {'connected_gene': 'GC08P055943', 'score': 0.39}, {'connected_gene': 'RN7SL798P', 'score': 0.34}]
chr8 GH08I055956 55956321 55957491 0.31 [{'connected_gene': 'LYN', 'score': 11.33}, {'connected_gene': 'RPS20', 'score': 6.36}, {'connected_gene': 'GC08P055943', 'score': 0.39}, {'connected_gene': 'RN7SL798P', 'score': 0.34}]
chr8 GH08I055944 55944889 55946940 0.76 [{'connected_gene': 'LYN', 'score': 5.15}, {'connected_gene': 'RPS20', 'score': 4.68}, {'connected_gene': 'GC08P055943', 'score': 0.77}, {'connected_gene': 'RN7SL798P', 'score': 0.29}]
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 GH08I055908 55908586 55911142 0.2 [{'connected_gene': 'LYN', 'score': 18.28}, {'connected_gene': 'PENK', 'score': 5.18}, {'connected_gene': 'GC08M055904', 'score': 0.44}, {'connected_gene': 'SNORA1B', 'score': 0.44}, {'connected_gene': 'GC08P055928', 'score': 0.37}]
chr8 GH08I055970 55970410 55976628 1.61 [{'connected_gene': 'LYN', 'score': 23.95}, {'connected_gene': 'TGS1', 'score': 15.67}, {'connected_gene': 'RPS20', 'score': 7.93}, {'connected_gene': 'PSMC6P1', 'score': 6.32}, {'connected_gene': 'RN7SL798P', 'score': 0.44}, {'connected_gene': 'GC08P055943', 'score': 0.31}]
chr8 GH08I055937 55937037 55942146 1.69 [{'connected_gene': 'LYN', 'score': 17.86}, {'connected_gene': 'TGS1', 'score': 12.78}, {'connected_gene': 'RPS20', 'score': 5.79}, {'connected_gene': 'GC08P055943', 'score': 0.77}, {'connected_gene': 'GC08P055928', 'score': 0.39}]
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 GH08I055860 55860502 55861566 1.09 [{'connected_gene': 'LYN', 'score': 15.75}, {'connected_gene': 'TGS1', 'score': 6.04}, {'connected_gene': 'GC08P055857', 'score': 0.77}, {'connected_gene': 'GC08M055863', 'score': 0.77}]
chr8 GH08I055960 55960224 55961651 1.14 [{'connected_gene': 'LYN', 'score': 11.32}, {'connected_gene': 'PSMC6P1', 'score': 5.06}, {'connected_gene': 'RPS20', 'score': 4.44}, {'connected_gene': 'RN7SL798P', 'score': 0.37}, {'connected_gene': 'GC08P055943', 'score': 0.37}]
chr8 GH08I055982 55982299 55985780 0.46 [{'connected_gene': 'LYN', 'score': 11.2}, {'connected_gene': 'PSMC6P1', 'score': 8.34}, {'connected_gene': 'RN7SL798P', 'score': 0.77}, {'connected_gene': 'GC08P056003', 'score': 0.37}]
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 GH08I055917 55917408 55920652 1.58 [{'connected_gene': 'LYN', 'score': 36.27}, {'connected_gene': 'GC08P055928', 'score': 0.44}, {'connected_gene': 'GC08M055904', 'score': 0.37}, {'connected_gene': 'SNORA1B', 'score': 0.37}]
chr8 GH08I055911 55911404 55912675 0.2 [{'connected_gene': 'LYN', 'score': 7.43}, {'connected_gene': 'GC08M055904', 'score': 0.44}, {'connected_gene': 'SNORA1B', 'score': 0.44}, {'connected_gene': 'GC08P055928', 'score': 0.37}]
chr8 GH08I055916 55916019 55917137 0.63 [{'connected_gene': 'LYN', 'score': 7.23}, {'connected_gene': 'GC08M055904', 'score': 0.39}, {'connected_gene': 'SNORA1B', 'score': 0.39}, {'connected_gene': 'GC08P055928', 'score': 0.39}]
chr8 GH08I055894 55894768 55896582 0.2 [{'connected_gene': 'LYN', 'score': 5.32}, {'connected_gene': 'ENSG00000254325', 'score': 0.77}, {'connected_gene': 'GC08M055904', 'score': 0.44}, {'connected_gene': 'SNORA1B', 'score': 0.44}]
chr8 GH08I055935 55935688 55936518 0.38 [{'connected_gene': 'LYN', 'score': 6.28}, {'connected_gene': 'GC08P055943', 'score': 0.44}, {'connected_gene': 'GC08P055928', 'score': 0.44}]
chr8 GH08I055871 55871166 55872311 0.57 [{'connected_gene': 'LYN', 'score': 0.44}, {'connected_gene': 'GC08P055865', 'score': 0.44}]
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 GH08I056000 56000506 56002291 0.31 [{'connected_gene': 'PSMC6P1', 'score': 6.7}, {'connected_gene': 'RPS20', 'score': 5.92}, {'connected_gene': 'GC08P056003', 'score': 0.77}, {'connected_gene': 'RN7SL798P', 'score': 0.34}, {'connected_gene': 'LYN', 'score': 0.13}]
chr8 GH08I055986 55986013 55987094 0.43 [{'connected_gene': 'PSMC6P1', 'score': 8.35}, {'connected_gene': 'LYN', 'score': 4.4}, {'connected_gene': 'RN7SL798P', 'score': 0.44}, {'connected_gene': 'GC08P056003', 'score': 0.37}]
chr8 GH08I056013 56013619 56014306 0.85 [{'connected_gene': 'PSMC6P1', 'score': 6.74}, {'connected_gene': 'RN7SL323P', 'score': 0.44}, {'connected_gene': 'GC08P056003', 'score': 0.39}, {'connected_gene': 'LYN', 'score': 0.12}]
chr8 GH08I056010 56010682 56010851 0.83 [{'connected_gene': 'PSMC6P1', 'score': 7.15}, {'connected_gene': 'GC08P056003', 'score': 0.44}, {'connected_gene': 'RN7SL323P', 'score': 0.39}, {'connected_gene': 'LYN', 'score': 0.12}]
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 GH08I055981 55981326 55982230 0.51 [{'connected_gene': 'RN7SL798P', 'score': 550.77}, {'connected_gene': 'LYN', 'score': 15.25}, {'connected_gene': 'PSMC6P1', 'score': 8.35}, {'connected_gene': 'RPS20', 'score': 7.25}, {'connected_gene': 'GC08P056003', 'score': 0.34}]
chr8 GH08I055979 55979453 55980094 0.51 [{'connected_gene': 'RN7SL798P', 'score': 550.77}, {'connected_gene': 'LYN', 'score': 11.2}, {'connected_gene': 'PSMC6P1', 'score': 6.36}, {'connected_gene': 'GC08P055943', 'score': 0.28}]
chr8 GH08I055964 55964562 55965588 0.2 [{'connected_gene': 'RN7SL798P', 'score': 0.37}, {'connected_gene': 'GC08P055943', 'score': 0.34}, {'connected_gene': 'LYN', 'score': 0.17}]
chr8 GH08I055966 55966475 55967231 0.2 [{'connected_gene': 'RN7SL798P', 'score': 0.39}, {'connected_gene': 'GC08P055943', 'score': 0.34}, {'connected_gene': 'LYN', 'score': 0.17}]
chr8 GH08I055978 55978532 55979073 0.46 [{'connected_gene': 'RN7SL798P', 'score': 550.77}, {'connected_gene': 'LYN', 'score': 21.22}, {'connected_gene': 'GC08P055943', 'score': 0.28}]
chr8 GH08I056003 56003743 56003882 0.44 [{'connected_gene': 'GC08P056003', 'score': 550.77}, {'connected_gene': 'LYN', 'score': 6.0}, {'connected_gene': 'RN7SL323P', 'score': 0.37}]
chr8 GH08I055892 55892682 55894413 0.92 [{'connected_gene': 'ENSG00000254325', 'score': 550.77}, {'connected_gene': 'LYN', 'score': 4.91}]
chr8 GH08I055934 55934613 55935360 0.76 [{'connected_gene': 'GC08P055943', 'score': 0.44}, {'connected_gene': 'GC08P055928', 'score': 0.44}, {'connected_gene': 'LYN', 'score': 0.22}]
chr8 GH08I055863 55863285 55867918 1.48 [{'connected_gene': 'GC08P055864', 'score': 550.77}, {'connected_gene': 'GC08M055863', 'score': 550.77}, {'connected_gene': 'GC08P055865', 'score': 550.77}, {'connected_gene': 'LYN', 'score': 15.78}]
chr8 GH08I055890 55890201 55892249 0.83 [{'connected_gene': 'ENSG00000254325', 'score': 0.77}, {'connected_gene': 'LYN', 'score': 0.39}]
chr8 GH08I055887 55887801 55890063 0.86 [{'connected_gene': 'ENSG00000254325', 'score': 0.77}, {'connected_gene': 'LYN', 'score': 0.39}]
chr8 GH08I055901 55900520 55902831 1.12 [{'connected_gene': 'GC08M055904', 'score': 550.77}, {'connected_gene': 'SNORA1B', 'score': 550.77}, {'connected_gene': 'LYN', 'score': 4.67}, {'connected_gene': 'TGS1', 'score': 4.24}, {'connected_gene': 'ENSG00000254325', 'score': 0.44}]
chr8 GH08I055913 55913688 55914811 1.07 [{'connected_gene': 'GC08M055904', 'score': 0.39}, {'connected_gene': 'SNORA1B', 'score': 0.39}, {'connected_gene': 'GC08P055928', 'score': 0.39}, {'connected_gene': 'LYN', 'score': 0.28}]
chr8 GH08I055897 55897042 55897231 0.4 [{'connected_gene': 'ENSG00000254325', 'score': 0.77}, {'connected_gene': 'GC08M055904', 'score': 0.44}, {'connected_gene': 'SNORA1B', 'score': 0.44}, {'connected_gene': 'LYN', 'score': 0.37}]
chr8 GH08I055900 55900180 55900199 0.4 [{'connected_gene': 'GC08M055904', 'score': 0.77}, {'connected_gene': 'SNORA1B', 'score': 0.77}, {'connected_gene': 'ENSG00000254325', 'score': 0.44}, {'connected_gene': 'LYN', 'score': 0.34}]
chr8 GH08I055951 55951090 55951791 0.2 [{'connected_gene': 'GC08P055943', 'score': 0.44}, {'connected_gene': 'RN7SL798P', 'score': 0.31}, {'connected_gene': 'LYN', 'score': 0.19}]
chr8 GH08I055997 55997048 55998027 0.2 [{'connected_gene': 'GC08P056003', 'score': 0.44}, {'connected_gene': 'RN7SL798P', 'score': 0.37}, {'connected_gene': 'LYN', 'score': 0.13}]
chr8 GH08I056011 56010662 56010677 0.82 [{'connected_gene': 'GC08P056003', 'score': 0.44}, {'connected_gene': 'RN7SL323P', 'score': 0.39}, {'connected_gene': 'LYN', 'score': 0.12}]

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