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
ENST00000379774 [[10600910, 10600984], [10608226, 10608844], [10609754, 10609871], [10614150, 10614550]] [[10608243, 10608844], [10609754, 10609871], [10614150, 10614461]]
ENST00000468843 [[10600930, 10600984], [10608226, 10608932], [10609754, 10609871], [10614150, 10614550]] [[10608243, 10608861]]
ENST00000527582 [[10600932, 10600984], [10608226, 10609245]] None
ENST00000609540 [[10608216, 10608844], [10609754, 10609867], [10614150, 10614547]] [[10608243, 10608844], [10609754, 10609867], [10614150, 10614321]]
NM_020233 [[10600926, 10600984], [10608226, 10608844], [10609754, 10609871], [10614150, 10614875]] [[10608243, 10608844], [10609754, 10609871], [10614150, 10614461]]
Promoter
Chrom Start End Description
chr17 10600894 10600974 CAGE_peak_1_at_C17orf48_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I010017 10017401 10022000 1.45 [{'connected_gene': 'GAS7', 'score': 20.35}, {'connected_gene': 'ADPRM', 'score': 13.77}, {'connected_gene': 'ENSG00000261433', 'score': 13.3}, {'connected_gene': 'MAGOH2P', 'score': 10.06}, {'connected_gene': 'GC17P010023', 'score': 0.77}, {'connected_gene': 'GC17P009965', 'score': 0.23}]
chr17 GH17I010149 10149539 10153075 1.55 [{'connected_gene': 'GAS7', 'score': 24.05}, {'connected_gene': 'ENSG00000261433', 'score': 13.93}, {'connected_gene': 'ADPRM', 'score': 13.06}, {'connected_gene': 'MAGOH2P', 'score': 10.69}, {'connected_gene': 'GC17P010160', 'score': 0.44}, {'connected_gene': 'GC17P010145', 'score': 0.44}]
chr17 GH17I010793 10793267 10804998 1.18 [{'connected_gene': 'ADPRM', 'score': 34.28}, {'connected_gene': 'SCO1', 'score': 20.03}, {'connected_gene': 'ENSG00000261433', 'score': 14.01}, {'connected_gene': 'PIRT', 'score': 12.36}, {'connected_gene': 'MAGOH2P', 'score': 10.84}, {'connected_gene': 'MYH3', 'score': 10.5}, {'connected_gene': 'TMEM220-AS1', 'score': 10.47}, {'connected_gene': 'ENSG00000263508', 'score': 6.51}, {'connected_gene': 'TMEM238L', 'score': 0.77}, {'connected_gene': 'ENSG00000266114', 'score': 0.44}]
chr17 GH17I010695 10695368 10701109 2.03 [{'connected_gene': 'ADPRM', 'score': 601.91}, {'connected_gene': 'SCO1', 'score': 550.77}, {'connected_gene': 'ENSG00000261433', 'score': 10.83}, {'connected_gene': 'MYH3', 'score': 6.46}, {'connected_gene': 'TMEM220', 'score': 0.29}]
chr17 GH17I010743 10743764 10743913 0.43 [{'connected_gene': 'ADPRM', 'score': 11.29}, {'connected_gene': 'SCO1', 'score': 11.29}, {'connected_gene': 'MYH3', 'score': 10.85}, {'connected_gene': 'ENSG00000240813', 'score': 0.77}, {'connected_gene': 'TMEM220-AS1', 'score': 0.39}, {'connected_gene': 'TMEM220', 'score': 0.39}, {'connected_gene': 'ENSG00000264016', 'score': 0.31}]
chr17 GH17I010744 10743382 10743715 0.43 [{'connected_gene': 'ADPRM', 'score': 11.29}, {'connected_gene': 'SCO1', 'score': 11.29}, {'connected_gene': 'MYH3', 'score': 10.85}, {'connected_gene': 'ENSG00000264016', 'score': 4.71}, {'connected_gene': 'ENSG00000240813', 'score': 0.77}, {'connected_gene': 'TMEM220-AS1', 'score': 0.39}, {'connected_gene': 'TMEM220', 'score': 0.39}]
chr17 GH17I010645 10645980 10647322 0.76 [{'connected_gene': 'ADPRM', 'score': 10.6}, {'connected_gene': 'SCO1', 'score': 10.6}, {'connected_gene': 'GC17M010627', 'score': 0.77}, {'connected_gene': 'GC17M010631', 'score': 0.44}, {'connected_gene': 'MYH3', 'score': 0.29}]
chr17 GH17I010644 10644079 10645189 0.2 [{'connected_gene': 'ADPRM', 'score': 10.67}, {'connected_gene': 'SCO1', 'score': 10.67}, {'connected_gene': 'GC17M010627', 'score': 0.44}, {'connected_gene': 'GC17M010631', 'score': 0.44}, {'connected_gene': 'MYH3', 'score': 0.29}]
chr17 GH17I010672 10672755 10675855 0.4 [{'connected_gene': 'ADPRM', 'score': 40.89}, {'connected_gene': 'MYH3', 'score': 0.77}, {'connected_gene': 'ENSG00000261433', 'score': 0.37}, {'connected_gene': 'SCO1', 'score': 0.34}]
chr17 GH17I010719 10719428 10720898 0.2 [{'connected_gene': 'ADPRM', 'score': 37.54}, {'connected_gene': 'MYH3', 'score': 10.65}, {'connected_gene': 'TMEM220', 'score': 8.4}, {'connected_gene': 'MAGOH2P', 'score': 0.77}, {'connected_gene': 'TMEM220-AS1', 'score': 0.44}]
chr17 GH17I010718 10718110 10719174 0.66 [{'connected_gene': 'ADPRM', 'score': 37.54}, {'connected_gene': 'MYH3', 'score': 10.87}, {'connected_gene': 'MAGOH2P', 'score': 0.77}, {'connected_gene': 'TMEM220-AS1', 'score': 0.39}, {'connected_gene': 'TMEM220', 'score': 0.39}]
chr17 GH17I010605 10605008 10605920 0.58 [{'connected_gene': 'ADPRM', 'score': 13.69}, {'connected_gene': 'MYH3', 'score': 10.41}, {'connected_gene': 'ENSG00000214970', 'score': 0.31}, {'connected_gene': 'GC17M010631', 'score': 0.29}, {'connected_gene': 'MYHAS', 'score': 0.07}]
chr17 GH17I010732 10732703 10734960 0.4 [{'connected_gene': 'ADPRM', 'score': 43.79}, {'connected_gene': 'TMEM220', 'score': 37.84}, {'connected_gene': 'SCO1', 'score': 11.96}, {'connected_gene': 'MYH3', 'score': 10.82}, {'connected_gene': 'TMEM220-AS1', 'score': 0.77}, {'connected_gene': 'ENSG00000240813', 'score': 0.39}]
chr17 GH17I010723 10723882 10727866 0.96 [{'connected_gene': 'ADPRM', 'score': 39.58}, {'connected_gene': 'TMEM220', 'score': 18.99}, {'connected_gene': 'MYH3', 'score': 10.63}, {'connected_gene': 'TMEM220-AS1', 'score': 0.77}, {'connected_gene': 'MAGOH2P', 'score': 0.44}]
chr17 GH17I010784 10784511 10787934 0.66 [{'connected_gene': 'ADPRM', 'score': 24.25}, {'connected_gene': 'RNU6-1065P', 'score': 11.31}, {'connected_gene': 'RPL15P21', 'score': 11.3}, {'connected_gene': 'MYH3', 'score': 10.58}, {'connected_gene': 'SCO1', 'score': 10.57}, {'connected_gene': 'TMEM220', 'score': 6.75}, {'connected_gene': 'TMEM220-AS1', 'score': 6.58}, {'connected_gene': 'GC17M010779', 'score': 0.44}, {'connected_gene': 'ENSG00000266114', 'score': 0.44}]
chr17 GH17I010755 10755004 10758648 1.26 [{'connected_gene': 'ADPRM', 'score': 30.59}, {'connected_gene': 'TMEM220-AS1', 'score': 6.43}, {'connected_gene': 'ENSG00000264016', 'score': 6.04}, {'connected_gene': 'TMEM220', 'score': 2.83}, {'connected_gene': 'PIRT', 'score': 2.07}, {'connected_gene': 'SHISA6', 'score': 1.81}, {'connected_gene': 'GC17M010753', 'score': 0.77}, {'connected_gene': 'ENSG00000240813', 'score': 0.39}]
chr17 GH17I010775 10775504 10778507 0.69 [{'connected_gene': 'ADPRM', 'score': 14.74}, {'connected_gene': 'TMEM220-AS1', 'score': 6.96}, {'connected_gene': 'GC17M010779', 'score': 0.77}, {'connected_gene': 'GC17M010769', 'score': 0.44}]
chr17 GH17I010678 10678487 10678882 0.59 [{'connected_gene': 'MYH3', 'score': 550.77}, {'connected_gene': 'GC17M010678', 'score': 550.77}, {'connected_gene': 'ADPRM', 'score': 47.45}, {'connected_gene': 'ENSG00000261433', 'score': 11.53}, {'connected_gene': 'MAGOH2P', 'score': 11.17}, {'connected_gene': 'MYH4', 'score': 2.32}, {'connected_gene': 'SCO1', 'score': 0.37}]
chr17 GH17I010805 10805317 10806921 0.2 [{'connected_gene': 'MYH3', 'score': 10.47}, {'connected_gene': 'ADPRM', 'score': 4.66}, {'connected_gene': 'TMEM238L', 'score': 0.77}, {'connected_gene': 'ENSG00000279542', 'score': 0.37}, {'connected_gene': 'TMEM220-AS1', 'score': 0.18}]
chr17 GH17I010702 10702544 10703041 0.31 [{'connected_gene': 'TMEM220', 'score': 4.77}, {'connected_gene': 'SCO1', 'score': 0.77}, {'connected_gene': 'ADPRM', 'score': 0.44}, {'connected_gene': 'PIR53353', 'score': 0.44}]
chr17 GH17I010736 10736488 10740228 1.03 [{'connected_gene': 'TMEM220', 'score': 11.77}, {'connected_gene': 'RNU6-1065P', 'score': 11.68}, {'connected_gene': 'RPL15P21', 'score': 11.67}, {'connected_gene': 'SCO1', 'score': 11.55}, {'connected_gene': 'ADPRM', 'score': 11.53}, {'connected_gene': 'MYH3', 'score': 10.56}, {'connected_gene': 'TMEM220-AS1', 'score': 5.72}, {'connected_gene': 'ENSG00000264016', 'score': 4.88}, {'connected_gene': 'ENSG00000240813', 'score': 0.44}]
chr17 GH17I010728 10728358 10731951 2.04 [{'connected_gene': 'TMEM220', 'score': 589.38}, {'connected_gene': 'TMEM220-AS1', 'score': 555.28}, {'connected_gene': 'ADPRM', 'score': 47.08}, {'connected_gene': 'ENSG00000261433', 'score': 11.36}, {'connected_gene': 'MAGOH2P', 'score': 11.29}]
chr17 GH17I009754 9754399 9756743 0.38 [{'connected_gene': 'DHRS7C', 'score': 11.67}, {'connected_gene': 'ENSG00000261433', 'score': 11.19}, {'connected_gene': 'MAGOH2P', 'score': 10.92}, {'connected_gene': 'USP43', 'score': 10.42}, {'connected_gene': 'ADPRM', 'score': 10.2}, {'connected_gene': 'ENSG00000282882', 'score': 0.44}, {'connected_gene': 'GC17M009711', 'score': 0.39}]
chr17 GH17I010828 10828018 10828965 0.2 [{'connected_gene': 'RNU6-1065P', 'score': 12.7}, {'connected_gene': 'RPL15P21', 'score': 12.69}, {'connected_gene': 'ADPRM', 'score': 10.4}, {'connected_gene': 'SCO1', 'score': 10.4}, {'connected_gene': 'MYH3', 'score': 10.35}, {'connected_gene': 'GC17M010823', 'score': 0.77}, {'connected_gene': 'PIRT', 'score': 0.44}]
chr17 GH17I010813 10813276 10813845 0.2 [{'connected_gene': 'RNU6-1065P', 'score': 11.71}, {'connected_gene': 'RPL15P21', 'score': 11.69}, {'connected_gene': 'MYH3', 'score': 10.89}, {'connected_gene': 'ADPRM', 'score': 10.57}, {'connected_gene': 'SCO1', 'score': 10.57}, {'connected_gene': 'TMEM220-AS1', 'score': 5.64}, {'connected_gene': 'TMEM238L', 'score': 0.44}, {'connected_gene': 'ENSG00000279542', 'score': 0.44}]
chr17 GH17I010814 10814172 10815871 0.64 [{'connected_gene': 'RNU6-1065P', 'score': 11.71}, {'connected_gene': 'RPL15P21', 'score': 11.69}, {'connected_gene': 'MYH3', 'score': 10.89}, {'connected_gene': 'ADPRM', 'score': 10.57}, {'connected_gene': 'SCO1', 'score': 10.57}, {'connected_gene': 'TMEM220-AS1', 'score': 9.99}, {'connected_gene': 'ENSG00000279542', 'score': 0.44}, {'connected_gene': 'TMEM238L', 'score': 0.39}]
chr17 GH17I010715 10715948 10717410 0.8 [{'connected_gene': 'MAGOH2P', 'score': 550.77}, {'connected_gene': 'ADPRM', 'score': 38.13}, {'connected_gene': 'TMEM220-AS1', 'score': 0.39}, {'connected_gene': 'TMEM220', 'score': 0.39}]
chr17 GH17I010832 10832619 10833109 0.31 [{'connected_gene': 'RPL15P21', 'score': 12.7}, {'connected_gene': 'RNU6-1065P', 'score': 12.7}, {'connected_gene': 'ADPRM', 'score': 10.4}, {'connected_gene': 'SCO1', 'score': 10.4}, {'connected_gene': 'MYH3', 'score': 10.34}, {'connected_gene': 'GC17M010823', 'score': 0.44}, {'connected_gene': 'PIRT', 'score': 0.44}]
chr17 GH17I010812 10812804 10812933 0.51 [{'connected_gene': 'RPL15P21', 'score': 11.69}, {'connected_gene': 'RNU6-1065P', 'score': 11.69}, {'connected_gene': 'MYH3', 'score': 10.89}, {'connected_gene': 'SCO1', 'score': 10.57}, {'connected_gene': 'ADPRM', 'score': 10.57}, {'connected_gene': 'TMEM238L', 'score': 0.44}, {'connected_gene': 'ENSG00000279542', 'score': 0.44}, {'connected_gene': 'TMEM220-AS1', 'score': 0.18}]
chr17 GH17I010745 10744240 10746067 0.83 [{'connected_gene': 'ENSG00000240813', 'score': 550.77}, {'connected_gene': 'ADPRM', 'score': 11.29}, {'connected_gene': 'SCO1', 'score': 11.29}, {'connected_gene': 'MYH3', 'score': 10.9}, {'connected_gene': 'ENSG00000264016', 'score': 4.85}, {'connected_gene': 'TMEM220-AS1', 'score': 4.76}, {'connected_gene': 'TMEM220', 'score': 0.39}]
chr17 GH17I010772 10772064 10772713 0.66 [{'connected_gene': 'GC17M010769', 'score': 550.77}, {'connected_gene': 'ADPRM', 'score': 10.43}, {'connected_gene': 'SCO1', 'score': 10.43}, {'connected_gene': 'MYH3', 'score': 10.16}, {'connected_gene': 'GC17M010779', 'score': 0.44}, {'connected_gene': 'TMEM220-AS1', 'score': 0.26}]
chr17 GH17I010789 10789488 10793178 1.17 [{'connected_gene': 'ENSG00000266114', 'score': 550.77}, {'connected_gene': 'ADPRM', 'score': 27.75}, {'connected_gene': 'SCO1', 'score': 17.39}, {'connected_gene': 'RNU6-1065P', 'score': 11.32}, {'connected_gene': 'RPL15P21', 'score': 11.31}, {'connected_gene': 'MYH3', 'score': 10.51}, {'connected_gene': 'ENSG00000263508', 'score': 7.22}, {'connected_gene': 'TMEM220-AS1', 'score': 5.23}, {'connected_gene': 'GC17M010779', 'score': 0.39}]
chr17 GH17I010681 10681423 10683251 0.4 [{'connected_gene': 'ENSG00000263388', 'score': 550.77}, {'connected_gene': 'ADPRM', 'score': 39.3}, {'connected_gene': 'GC17M010686', 'score': 0.39}, {'connected_gene': 'SCO1', 'score': 0.37}]
chr17 GH17I010112 10112881 10122738 1.56 [{'connected_gene': 'ENSG00000261433', 'score': 13.93}, {'connected_gene': 'ADPRM', 'score': 13.06}, {'connected_gene': 'MAGOH2P', 'score': 10.69}, {'connected_gene': 'GAS7', 'score': 8.28}, {'connected_gene': 'MYH4', 'score': 6.31}, {'connected_gene': 'GC17M010115', 'score': 0.77}, {'connected_gene': 'GC17P010097', 'score': 0.37}]
chr17 GH17I009761 9761897 9770019 0.76 [{'connected_gene': 'ENSG00000282882', 'score': 550.77}, {'connected_gene': 'ENSG00000261433', 'score': 14.45}, {'connected_gene': 'DHRS7C', 'score': 12.12}, {'connected_gene': 'MAGOH2P', 'score': 11.93}, {'connected_gene': 'USP43', 'score': 10.18}, {'connected_gene': 'ADPRM', 'score': 10.0}, {'connected_gene': 'GC17M009779', 'score': 0.39}]
chr17 GH17I010768 10768943 10769218 0.28 [{'connected_gene': 'GC17M010769', 'score': 550.77}, {'connected_gene': 'ENSG00000264016', 'score': 550.77}, {'connected_gene': 'RNU6-1065P', 'score': 11.39}, {'connected_gene': 'RPL15P21', 'score': 11.38}, {'connected_gene': 'MYH3', 'score': 10.59}, {'connected_gene': 'ADPRM', 'score': 10.46}, {'connected_gene': 'SCO1', 'score': 10.46}, {'connected_gene': 'PIRT', 'score': 4.16}, {'connected_gene': 'SHISA6', 'score': 3.43}, {'connected_gene': 'MYH4', 'score': 1.24}, {'connected_gene': 'TMEM220-AS1', 'score': 0.28}]
chr17 GH17I009837 9837313 9838595 1.31 [{'connected_gene': 'GC17P009839', 'score': 550.77}, {'connected_gene': 'GC17M009835', 'score': 550.77}, {'connected_gene': 'MAGOH2P', 'score': 23.4}, {'connected_gene': 'ADPRM', 'score': 21.18}, {'connected_gene': 'ENSG00000261433', 'score': 14.45}, {'connected_gene': 'DHRS7C', 'score': 11.47}, {'connected_gene': 'GLP2R', 'score': 8.15}]
chr17 GH17I010766 10766351 10767723 0.2 [{'connected_gene': 'ENSG00000264016', 'score': 550.77}, {'connected_gene': 'RPL15P21', 'score': 11.38}, {'connected_gene': 'RNU6-1065P', 'score': 11.38}, {'connected_gene': 'MYH3', 'score': 10.63}, {'connected_gene': 'ADPRM', 'score': 10.47}, {'connected_gene': 'SCO1', 'score': 10.47}, {'connected_gene': 'GC17M010753', 'score': 0.44}, {'connected_gene': 'TMEM220-AS1', 'score': 0.28}]

© 2018 bmi.sjtu.edu.cn. All rights reserved.
浙ICP备18030141号.