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
ENST00000395436 [[56131694, 56132071], [56136174, 56136331], [56140689, 56140804], [56142278, 56142429], [56144526, 56144582], [56145794, 56145879], [56146056, 56146201], [56147220, 56147817]] [[56131947, 56132071], [56136174, 56136331], [56140689, 56140804], [56142278, 56142429], [56144526, 56144582], [56145794, 56145879], [56146056, 56146201], [56147220, 56147305]]
ENST00000275607 [[56131916, 56132071], [56140689, 56140804], [56141866, 56141911], [56142278, 56142429], [56144526, 56144582], [56145794, 56145879], [56146056, 56146201], [56147220, 56148362]] [[56140729, 56140804], [56141866, 56141911], [56142278, 56142429], [56144526, 56144582], [56145794, 56145879], [56146056, 56146201], [56147220, 56147305]]
ENST00000434526 [[56131916, 56132071], [56136174, 56136331], [56140689, 56140804], [56141866, 56141911], [56142278, 56142429], [56144526, 56144582], [56145794, 56145879], [56146056, 56146201], [56147220, 56148363]] [[56131947, 56132071], [56136174, 56136331], [56140689, 56140804], [56141866, 56141911], [56142278, 56142429], [56144526, 56144582], [56145794, 56145879], [56146056, 56146201], [56147220, 56147305]]
ENST00000395435 [[56131946, 56132071], [56136174, 56136331], [56140689, 56140804], [56145794, 56145879], [56146056, 56146201], [56147220, 56147880]] [[56131947, 56132071], [56136174, 56136331], [56140689, 56140804], [56145794, 56145879], [56146056, 56146201], [56147220, 56147305]]
ENST00000413952 [[56131947, 56132071], [56136174, 56136340], [56140689, 56140804], [56141866, 56141911], [56142278, 56142429], [56144526, 56144582], [56145794, 56145879], [56146056, 56146195]] [[56131947, 56132071], [56136174, 56136340], [56140689, 56140804], [56141866, 56141911], [56142278, 56142429], [56144526, 56144582], [56145794, 56145879], [56146056, 56146195]]
ENST00000342190 [[56131947, 56132071], [56136174, 56136331], [56140689, 56140804], [56141866, 56141911], [56142278, 56142429], [56144526, 56144582], [56145794, 56145879], [56147220, 56148363]] [[56131947, 56132071], [56136174, 56136331], [56140689, 56140804], [56141866, 56141911], [56142278, 56142429], [56144526, 56144582], [56145794, 56145879], [56147220, 56147564]]
ENST00000452216 [[56131957, 56132071], [56140689, 56140804], [56141866, 56141911], [56142278, 56142429], [56144526, 56144582], [56145794, 56145879], [56146056, 56146201], [56147220, 56147422]] [[56132004, 56132071], [56140689, 56140778]]
ENST00000436782 [[56131969, 56132071], [56136174, 56136331], [56144526, 56144582], [56145794, 56145879], [56146056, 56146201], [56147220, 56148358]] [[56132004, 56132071], [56136174, 56136331], [56144526, 56144582], [56145794, 56145823]]
ENST00000437307 [[56131976, 56132071], [56136174, 56136331], [56140689, 56140804], [56141866, 56141911], [56145794, 56145879], [56146056, 56146201], [56147220, 56147525]] [[56132004, 56132071], [56136174, 56136331], [56140689, 56140804], [56141866, 56141911], [56145794, 56145879], [56146056, 56146201], [56147220, 56147305]]
ENST00000413756 [[56131981, 56132071], [56136174, 56136331], [56140689, 56140804], [56141866, 56141911], [56142278, 56142429], [56144526, 56144582], [56145794, 56145879], [56146056, 56146201], [56146614, 56146732], [56147220, 56147429]] [[56132004, 56132071], [56136174, 56136331], [56140689, 56140804], [56141866, 56141911], [56142278, 56142429], [56144526, 56144582], [56145794, 56145879], [56146056, 56146201], [56146614, 56146732], [56147220, 56147340]]
ENST00000483327 [[56131993, 56132071], [56136174, 56136331], [56140689, 56141649]] None
ENST00000423763 [[56131993, 56132071], [56136174, 56136331], [56140689, 56140804], [56141866, 56141911], [56144526, 56144582], [56145794, 56145879], [56146056, 56146201], [56147220, 56148331]] [[56132004, 56132071], [56136174, 56136331], [56140689, 56140804], [56141866, 56141911], [56144526, 56144582], [56145794, 56145852]]
ENST00000498777 [[56131997, 56132071], [56136174, 56136331], [56140689, 56140804], [56141866, 56142090]] None
ENST00000438133 [[56132000, 56132071], [56136174, 56136331], [56140689, 56140804], [56144526, 56144582], [56145794, 56145879], [56146056, 56146201], [56147220, 56148362]] [[56132004, 56132071], [56136174, 56136331], [56140689, 56140804], [56144526, 56144582], [56145794, 56145852]]
ENST00000447501 [[56132002, 56132071], [56136174, 56136331], [56140689, 56140804], [56141866, 56141911], [56142278, 56142332], [56144526, 56144582], [56145794, 56145879], [56146056, 56146201], [56147045, 56147568]] [[56132004, 56132071], [56136174, 56136331], [56140689, 56140804], [56141866, 56141911], [56142278, 56142332], [56144526, 56144582], [56145794, 56145852]]
ENST00000451338 [[56132013, 56132071], [56136174, 56136331], [56140689, 56140804], [56141806, 56141911], [56142278, 56142429], [56144526, 56144582], [56145794, 56145879], [56146056, 56146201], [56147220, 56147260]] [[56132013, 56132071], [56136174, 56136331], [56140689, 56140804], [56141806, 56141911], [56142278, 56142429], [56144526, 56144582], [56145794, 56145879], [56146056, 56146201], [56147220, 56147260]]
ENST00000529457 [[56132024, 56132071], [56136174, 56136331], [56140689, 56140804], [56141866, 56141911], [56142278, 56142482]] None
ENST00000461912 [[56144220, 56144582], [56145794, 56145961]] None
ENST00000531229 [[56144295, 56144582], [56145794, 56145879], [56146056, 56146201], [56147220, 56147440]] None
NM_001146333 [[56131916, 56132071], [56140689, 56140804], [56141866, 56141911], [56142278, 56142429], [56144526, 56144582], [56145794, 56145879], [56146056, 56146201], [56147220, 56148365]] [[56140729, 56140804], [56141866, 56141911], [56142278, 56142429], [56144526, 56144582], [56145794, 56145879], [56146056, 56146201], [56147220, 56147305]]
NM_001042470 [[56131916, 56132071], [56136174, 56136331], [56140689, 56140804], [56145794, 56145879], [56146056, 56146201], [56147220, 56148365]] [[56131947, 56132071], [56136174, 56136331], [56140689, 56140804], [56145794, 56145879], [56146056, 56146201], [56147220, 56147305]]
NM_001042469 [[56131916, 56132071], [56136174, 56136331], [56140689, 56140804], [56142278, 56142429], [56144526, 56144582], [56145794, 56145879], [56146056, 56146201], [56147220, 56148365]] [[56131947, 56132071], [56136174, 56136331], [56140689, 56140804], [56142278, 56142429], [56144526, 56144582], [56145794, 56145879], [56146056, 56146201], [56147220, 56147305]]
NM_001130069 [[56131916, 56132071], [56136174, 56136331], [56140689, 56140804], [56141866, 56141911], [56142278, 56142429], [56144526, 56144582], [56145794, 56145879], [56147220, 56148365]] [[56131947, 56132071], [56136174, 56136331], [56140689, 56140804], [56141866, 56141911], [56142278, 56142429], [56144526, 56144582], [56145794, 56145879], [56147220, 56147564]]
NM_015411 [[56131916, 56132071], [56136174, 56136331], [56140689, 56140804], [56141866, 56141911], [56142278, 56142429], [56144526, 56144582], [56145794, 56145879], [56146056, 56146201], [56147220, 56148365]] [[56131947, 56132071], [56136174, 56136331], [56140689, 56140804], [56141866, 56141911], [56142278, 56142429], [56144526, 56144582], [56145794, 56145879], [56146056, 56146201], [56147220, 56147305]]
Promoter
Chrom Start End Description
chr7 56131942 56132009 CAGE_peak_1_at_SUMF2_5end
chr7 56147976 56147979 CAGE_peak_2_at_SUMF2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr7 GH07I056019 56019559 56020850 0.2 [{'connected_gene': 'PSPHP1', 'score': 22.18}, {'connected_gene': 'SUMF2', 'score': 14.9}, {'connected_gene': 'PHKG1', 'score': 10.88}, {'connected_gene': 'PIR39528', 'score': 0.31}, {'connected_gene': 'PSPH', 'score': 0.29}]
chr7 GH07I055774 55774341 55775577 0.58 [{'connected_gene': 'PSPHP1', 'score': 24.74}, {'connected_gene': 'SUMF2', 'score': 8.62}, {'connected_gene': 'RNU6-1126P', 'score': 0.39}]
chr7 GH07I056049 56049862 56054191 2.07 [{'connected_gene': 'PSPH', 'score': 556.91}, {'connected_gene': 'CCT6A', 'score': 550.77}, {'connected_gene': 'CHCHD2', 'score': 25.86}, {'connected_gene': 'SUMF2', 'score': 21.28}, {'connected_gene': 'NIPSNAP2', 'score': 19.53}, {'connected_gene': 'LOC154937', 'score': 12.1}, {'connected_gene': 'PSPHP1', 'score': 11.8}, {'connected_gene': 'PIR60303', 'score': 0.77}, {'connected_gene': 'GC07P056054', 'score': 0.77}]
chr7 GH07I056031 56031232 56035211 2.2 [{'connected_gene': 'PSPH', 'score': 550.37}, {'connected_gene': 'SUMF2', 'score': 16.52}, {'connected_gene': 'NIPSNAP2', 'score': 8.65}, {'connected_gene': 'PSPHP1', 'score': 5.77}, {'connected_gene': 'ZNF713', 'score': 4.36}, {'connected_gene': 'PIR39528', 'score': 0.26}]
chr7 GH07I055364 55364438 55367844 2.06 [{'connected_gene': 'LANCL2', 'score': 550.77}, {'connected_gene': 'SUMF2', 'score': 14.64}, {'connected_gene': 'LOC100129276', 'score': 8.79}, {'connected_gene': 'PIR45139', 'score': 0.15}]
chr7 GH07I056091 56091499 56093653 1.32 [{'connected_gene': 'PHKG1', 'score': 550.77}, {'connected_gene': 'CHCHD2', 'score': 28.18}, {'connected_gene': 'NIPSNAP2', 'score': 26.9}, {'connected_gene': 'SUMF2', 'score': 21.16}, {'connected_gene': 'MRPS17', 'score': 10.93}, {'connected_gene': 'PSPHP1', 'score': 8.34}]
chr7 GH07I056082 56082708 56082929 0.2 [{'connected_gene': 'CHCHD2', 'score': 15.92}, {'connected_gene': 'MRPS17', 'score': 10.61}, {'connected_gene': 'NIPSNAP2', 'score': 10.61}, {'connected_gene': 'PHKG1', 'score': 0.39}, {'connected_gene': 'SUMF2', 'score': 0.37}]
chr7 GH07I056027 56027709 56030927 0.84 [{'connected_gene': 'CHCHD2', 'score': 25.6}, {'connected_gene': 'SUMF2', 'score': 14.64}, {'connected_gene': 'PHKG1', 'score': 11.52}, {'connected_gene': 'PSPHP1', 'score': 11.46}, {'connected_gene': 'NIPSNAP2', 'score': 9.87}, {'connected_gene': 'ZNF713', 'score': 5.61}, {'connected_gene': 'PSPH', 'score': 0.34}, {'connected_gene': 'PIR39528', 'score': 0.28}]
chr7 GH07I056104 56104955 56108123 2.33 [{'connected_gene': 'CHCHD2', 'score': 579.47}, {'connected_gene': 'SUMF2', 'score': 30.53}, {'connected_gene': 'LOC154937', 'score': 26.4}, {'connected_gene': 'CCT6A', 'score': 13.38}, {'connected_gene': 'NIPSNAP2', 'score': 12.53}, {'connected_gene': 'PSPHP1', 'score': 11.16}, {'connected_gene': 'ZNF713', 'score': 7.74}, {'connected_gene': 'PHKG1', 'score': 0.39}]
chr7 GH07I055886 55886801 55888601 1.87 [{'connected_gene': 'ZNF713', 'score': 564.47}, {'connected_gene': 'ENSG00000249773', 'score': 550.77}, {'connected_gene': 'CHCHD2', 'score': 15.77}, {'connected_gene': 'SUMF2', 'score': 14.38}, {'connected_gene': 'GC07P055892', 'score': 0.44}]
chr7 GH07I055970 55970208 55971898 0.46 [{'connected_gene': 'ZNF713', 'score': 20.35}, {'connected_gene': 'SUMF2', 'score': 15.51}, {'connected_gene': 'NIPSNAP2', 'score': 12.62}, {'connected_gene': 'CHCHD2', 'score': 12.31}, {'connected_gene': 'PHKG1', 'score': 11.07}, {'connected_gene': 'PSPHP1', 'score': 10.14}, {'connected_gene': 'MRPS17', 'score': 0.37}, {'connected_gene': 'PIR39528', 'score': 0.34}]
chr7 GH07I055951 55951248 55952801 2.01 [{'connected_gene': 'NIPSNAP2', 'score': 561.16}, {'connected_gene': 'MRPS17', 'score': 550.77}, {'connected_gene': 'SUMF2', 'score': 16.18}, {'connected_gene': 'CHCHD2', 'score': 15.72}, {'connected_gene': 'ZNF713', 'score': 13.98}, {'connected_gene': 'PIR39528', 'score': 0.26}, {'connected_gene': 'ENSG00000249773', 'score': 0.21}]
chr7 GH07I055999 55999490 56000918 1.07 [{'connected_gene': 'NIPSNAP2', 'score': 23.57}, {'connected_gene': 'CHCHD2', 'score': 12.51}, {'connected_gene': 'PHKG1', 'score': 11.41}, {'connected_gene': 'MRPS17', 'score': 11.28}, {'connected_gene': 'SUMF2', 'score': 5.42}, {'connected_gene': 'PIR39528', 'score': 0.44}, {'connected_gene': 'PSPH', 'score': 0.23}]
chr7 GH07I056074 56074049 56074874 0.88 [{'connected_gene': 'NIPSNAP2', 'score': 18.15}, {'connected_gene': 'ZNF713', 'score': 6.1}, {'connected_gene': 'SUMF2', 'score': 0.39}, {'connected_gene': 'PHKG1', 'score': 0.37}]
chr7 GH07I055963 55963419 55967284 1.95 [{'connected_gene': 'NIPSNAP2', 'score': 562.55}, {'connected_gene': 'ZNF713', 'score': 19.1}, {'connected_gene': 'SUMF2', 'score': 15.01}, {'connected_gene': 'CHCHD2', 'score': 12.46}, {'connected_gene': 'PSPHP1', 'score': 8.35}, {'connected_gene': 'MRPS17', 'score': 0.39}, {'connected_gene': 'PIR39528', 'score': 0.31}]
chr7 GH07I056004 56004330 56011082 1.16 [{'connected_gene': 'NIPSNAP2', 'score': 22.25}, {'connected_gene': 'SUMF2', 'score': 21.39}, {'connected_gene': 'CCT6A', 'score': 12.45}, {'connected_gene': 'PHKG1', 'score': 11.67}, {'connected_gene': 'LOC154937', 'score': 11.38}, {'connected_gene': 'MRPS17', 'score': 11.06}, {'connected_gene': 'PSPHP1', 'score': 11.04}, {'connected_gene': 'ZNF713', 'score': 6.48}, {'connected_gene': 'NUPR2', 'score': 5.42}, {'connected_gene': 'PIR39528', 'score': 0.37}, {'connected_gene': 'PSPH', 'score': 0.26}]
chr7 GH07I056078 56078977 56080833 0.9 [{'connected_gene': 'NIPSNAP2', 'score': 23.2}, {'connected_gene': 'SUMF2', 'score': 19.88}, {'connected_gene': 'CHCHD2', 'score': 15.84}, {'connected_gene': 'PSPHP1', 'score': 12.29}, {'connected_gene': 'MRPS17', 'score': 10.62}, {'connected_gene': 'PHKG1', 'score': 0.39}]
chr7 GH07I056083 56083228 56083973 0.49 [{'connected_gene': 'SUMF2', 'score': 21.31}, {'connected_gene': 'CHCHD2', 'score': 15.92}, {'connected_gene': 'MRPS17', 'score': 10.61}, {'connected_gene': 'NIPSNAP2', 'score': 10.61}, {'connected_gene': 'PHKG1', 'score': 0.44}]
chr7 GH07I056097 56097463 56098205 0.69 [{'connected_gene': 'SUMF2', 'score': 21.14}, {'connected_gene': 'NIPSNAP2', 'score': 12.09}, {'connected_gene': 'PHKG1', 'score': 0.77}, {'connected_gene': 'CHCHD2', 'score': 0.44}]
chr7 GH07I056059 56059583 56065784 2.01 [{'connected_gene': 'SUMF2', 'score': 571.66}, {'connected_gene': 'NIPSNAP2', 'score': 24.79}, {'connected_gene': 'CHCHD2', 'score': 16.34}, {'connected_gene': 'PHKG1', 'score': 11.42}, {'connected_gene': 'PSPHP1', 'score': 11.14}, {'connected_gene': 'MRPS17', 'score': 10.21}, {'connected_gene': 'PSPH', 'score': 6.21}, {'connected_gene': 'SNORA15', 'score': 0.77}, {'connected_gene': 'GC07P056082', 'score': 0.77}, {'connected_gene': 'CCT6A', 'score': 0.39}]
chr7 GH07I055191 55191561 55194086 0.99 [{'connected_gene': 'SUMF2', 'score': 6.11}, {'connected_gene': 'EGFR-AS1', 'score': 0.77}, {'connected_gene': 'GC07P055212', 'score': 0.34}, {'connected_gene': 'EGFR', 'score': 0.09}]
chr7 GH07I056907 56907849 56914033 0.2 [{'connected_gene': 'SUMF2', 'score': 4.35}, {'connected_gene': 'PIR50988', 'score': 0.39}, {'connected_gene': 'LOC100130849', 'score': 0.31}]