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
ENST00000445937 [[107282472, 107282595], [107371703, 107371864], [107531170, 107531367], [107691437, 107691520], [107695426, 107695534], [107696473, 107696587], [107704955, 107705105], [107715133, 107715318], [107718609, 107719373], [107722849, 107723018], [107726050, 107726213], [107751685, 107751811], [107752570, 107752723], [107754449, 107754545], [107758016, 107758090], [107763033, 107764917]] [[107371841, 107371864], [107531170, 107531367], [107691437, 107691520], [107695426, 107695534], [107696473, 107696587], [107704955, 107705105], [107715133, 107715318], [107718609, 107719373], [107722849, 107723018], [107726050, 107726213], [107751685, 107751811], [107752570, 107752723], [107754449, 107754545], [107758016, 107758090], [107763033, 107763169]]
ENST00000531443 [[107371703, 107371864], [107531170, 107531367], [107691437, 107691520], [107695426, 107695534], [107696473, 107696587], [107704955, 107705105], [107715133, 107715318], [107718609, 107719373], [107722849, 107723018], [107726050, 107726213], [107751685, 107751811], [107752570, 107752723], [107754449, 107754545], [107758016, 107758090], [107763033, 107764089]] [[107371841, 107371864], [107531170, 107531367], [107691437, 107691520], [107695426, 107695534], [107696473, 107696587], [107704955, 107705105], [107715133, 107715318], [107718609, 107719373], [107722849, 107723018], [107726050, 107726213], [107751685, 107751811], [107752570, 107752723], [107754449, 107754545], [107758016, 107758090], [107763033, 107763169]]
ENST00000517566 [[107371703, 107371864], [107531170, 107531367], [107691437, 107691520], [107695426, 107695534], [107696473, 107696587], [107704955, 107705105], [107715133, 107715318], [107718609, 107719373], [107722849, 107723018], [107726050, 107726213], [107749747, 107749828], [107751685, 107751811], [107752570, 107752723], [107754449, 107754545], [107758016, 107758090], [107763033, 107764910]] [[107371841, 107371864], [107531170, 107531367], [107691437, 107691520], [107695426, 107695534], [107696473, 107696587], [107704955, 107705105], [107715133, 107715318], [107718609, 107719373], [107722849, 107723018], [107726050, 107726213], [107749747, 107749828], [107751685, 107751811], [107752570, 107752723], [107754449, 107754545], [107758016, 107758090], [107763033, 107763169]]
ENST00000452423 [[107371703, 107371864], [107531170, 107531367], [107691437, 107691520], [107695426, 107695534], [107696473, 107696587], [107704955, 107705105], [107715133, 107715318], [107718609, 107719373], [107722849, 107723018], [107726050, 107726213], [107752570, 107752723], [107754449, 107754545], [107758016, 107758090], [107763033, 107764910]] [[107719279, 107719373], [107722849, 107723018], [107726050, 107726213], [107752570, 107752723], [107754449, 107754545], [107758016, 107758090], [107763033, 107763169]]
ENST00000442977 [[107460151, 107460276], [107531170, 107531367], [107691437, 107691520], [107695426, 107695534], [107696473, 107696587], [107704955, 107705105], [107715133, 107715318], [107718609, 107719373], [107722849, 107723018], [107726050, 107726213], [107749747, 107749828], [107751685, 107751811], [107752570, 107752723], [107754449, 107754545], [107758016, 107758090], [107763033, 107763401]] [[107460250, 107460276], [107531170, 107531367], [107691437, 107691520], [107695426, 107695534], [107696473, 107696587], [107704955, 107705105], [107715133, 107715318], [107718609, 107719373], [107722849, 107723018], [107726050, 107726213], [107749747, 107749828], [107751685, 107751811], [107752570, 107752723], [107754449, 107754545], [107758016, 107758090], [107763033, 107763169]]
ENST00000517686 [[107593201, 107593479], [107691437, 107691520], [107695426, 107695534], [107696473, 107696568]] [[107593466, 107593479], [107691437, 107691520], [107695426, 107695534], [107696473, 107696568]]
ENST00000521963 [[107593231, 107593479], [107617009, 107617432]] None
ENST00000435082 [[107669895, 107670413], [107751685, 107751811], [107752570, 107752723], [107754449, 107754545], [107758016, 107758090], [107763033, 107764089]] [[107670214, 107670413], [107751685, 107751750]]
ENST00000312046 [[107670081, 107670413], [107691437, 107691520], [107695426, 107695534], [107696473, 107696587], [107704955, 107705105], [107715133, 107715318], [107718609, 107719373], [107722849, 107723018], [107726050, 107726213], [107751685, 107751811], [107752570, 107752723], [107754449, 107754545], [107758016, 107758090], [107763033, 107764922]] [[107670214, 107670413], [107691437, 107691520], [107695426, 107695534], [107696473, 107696587], [107704955, 107705105], [107715133, 107715318], [107718609, 107719373], [107722849, 107723018], [107726050, 107726213], [107751685, 107751811], [107752570, 107752723], [107754449, 107754545], [107758016, 107758090], [107763033, 107763169]]
ENST00000519415 [[107718608, 107719373], [107722849, 107723018], [107726050, 107726213], [107752570, 107752723], [107754449, 107754545], [107758016, 107758090], [107763033, 107764089]] [[107718608, 107719373], [107722849, 107723018], [107726050, 107726213], [107752570, 107752723], [107754449, 107754545], [107758016, 107758090], [107763033, 107763169]]
ENST00000449762 [[107738239, 107738537], [107751685, 107751811], [107752570, 107752723], [107754449, 107754545], [107758016, 107758090], [107763033, 107764907]] [[107738471, 107738537], [107751685, 107751811], [107752570, 107752723], [107754449, 107754545], [107758016, 107758090], [107763033, 107763169]]
ENST00000297447 [[107738334, 107738537], [107749747, 107749828], [107751685, 107751811], [107752570, 107752723], [107754449, 107754545], [107758016, 107758090], [107763033, 107764244]] [[107738471, 107738537], [107749747, 107749828], [107751685, 107751811], [107752570, 107752723], [107754449, 107754545], [107758016, 107758090], [107763033, 107763169]]
ENST00000521592 [[107738412, 107738485], [107749747, 107749828], [107751685, 107751811], [107752570, 107752723], [107754449, 107754545], [107758016, 107758090], [107763033, 107763423]] [[107752669, 107752723], [107754449, 107754545], [107758016, 107758090], [107763033, 107763169]]
ENST00000497705 [[107630353, 107630411], [107691437, 107691520], [107695426, 107695534], [107696473, 107696587], [107704955, 107705105], [107715133, 107715318], [107718609, 107719918]] [[107630392, 107630411], [107691437, 107691520], [107695426, 107695534], [107696473, 107696587], [107704955, 107705105], [107715133, 107715318], [107718609, 107719462]]
ENST00000438229 [[107670118, 107670313], [107691437, 107691520], [107695426, 107695534], [107696473, 107696587], [107704955, 107705105], [107715133, 107715318], [107718609, 107719210]] [[107670214, 107670313], [107691437, 107691461]]
ENST00000517455 [[107694720, 107694773], [107695426, 107695534], [107696473, 107696587], [107704955, 107705105], [107715133, 107715315]] None
ENST00000521864 [[107752470, 107752723], [107754449, 107754712]] None
NM_018002 [[107282405, 107282595], [107371703, 107371864], [107531170, 107531367], [107691437, 107691520], [107695426, 107695534], [107696473, 107696587], [107704955, 107705105], [107715133, 107715318], [107718609, 107719373], [107722849, 107723018], [107726050, 107726213], [107751685, 107751811], [107752570, 107752723], [107754449, 107754545], [107758016, 107758090], [107763033, 107764922]] [[107371841, 107371864], [107531170, 107531367], [107691437, 107691520], [107695426, 107695534], [107696473, 107696587], [107704955, 107705105], [107715133, 107715318], [107718609, 107719373], [107722849, 107723018], [107726050, 107726213], [107751685, 107751811], [107752570, 107752723], [107754449, 107754545], [107758016, 107758090], [107763033, 107763169]]
NM_001198533 [[107282405, 107282595], [107371703, 107371864], [107531170, 107531367], [107691437, 107691520], [107695426, 107695534], [107696473, 107696587], [107704955, 107705105], [107715133, 107715318], [107718609, 107719373], [107722849, 107723018], [107726050, 107726213], [107749747, 107749828], [107751685, 107751811], [107752570, 107752723], [107754449, 107754545], [107758016, 107758090], [107763033, 107764922]] [[107371841, 107371864], [107531170, 107531367], [107691437, 107691520], [107695426, 107695534], [107696473, 107696587], [107704955, 107705105], [107715133, 107715318], [107718609, 107719373], [107722849, 107723018], [107726050, 107726213], [107749747, 107749828], [107751685, 107751811], [107752570, 107752723], [107754449, 107754545], [107758016, 107758090], [107763033, 107763169]]
NM_001198532 [[107460151, 107460276], [107531170, 107531367], [107691437, 107691520], [107695426, 107695534], [107696473, 107696587], [107704955, 107705105], [107715133, 107715318], [107718609, 107719373], [107722849, 107723018], [107726050, 107726213], [107749747, 107749828], [107751685, 107751811], [107752570, 107752723], [107754449, 107754545], [107758016, 107758090], [107763033, 107764922]] [[107460250, 107460276], [107531170, 107531367], [107691437, 107691520], [107695426, 107695534], [107696473, 107696587], [107704955, 107705105], [107715133, 107715318], [107718609, 107719373], [107722849, 107723018], [107726050, 107726213], [107749747, 107749828], [107751685, 107751811], [107752570, 107752723], [107754449, 107754545], [107758016, 107758090], [107763033, 107763169]]
NM_181354 [[107670035, 107670413], [107691437, 107691520], [107695426, 107695534], [107696473, 107696587], [107704955, 107705105], [107715133, 107715318], [107718609, 107719373], [107722849, 107723018], [107726050, 107726213], [107751685, 107751811], [107752570, 107752723], [107754449, 107754545], [107758016, 107758090], [107763033, 107764922]] [[107670214, 107670413], [107691437, 107691520], [107695426, 107695534], [107696473, 107696587], [107704955, 107705105], [107715133, 107715318], [107718609, 107719373], [107722849, 107723018], [107726050, 107726213], [107751685, 107751811], [107752570, 107752723], [107754449, 107754545], [107758016, 107758090], [107763033, 107763169]]
NM_001198535 [[107738334, 107738537], [107751685, 107751811], [107752570, 107752723], [107754449, 107754545], [107758016, 107758090], [107763033, 107764922]] [[107738471, 107738537], [107751685, 107751811], [107752570, 107752723], [107754449, 107754545], [107758016, 107758090], [107763033, 107763169]]
NM_001198534 [[107738334, 107738537], [107749747, 107749828], [107751685, 107751811], [107752570, 107752723], [107754449, 107754545], [107758016, 107758090], [107763033, 107764922]] [[107738471, 107738537], [107749747, 107749828], [107751685, 107751811], [107752570, 107752723], [107754449, 107754545], [107758016, 107758090], [107763033, 107763169]]
Promoter
Chrom Start End Description
chr8 107282339 107282351 CAGE_peak_6_at_OXR1_5end
chr8 107282368 107282379 CAGE_peak_5_at_OXR1_5end
chr8 107282389 107282493 CAGE_peak_1_at_OXR1_5end
chr8 107460147 107460207 CAGE_peak_4_at_OXR1_5end
chr8 107460209 107460220 CAGE_peak_11_at_OXR1_5end
chr8 107593198 107593207 CAGE_peak_17_at_OXR1_5end
chr8 107593246 107593259 CAGE_peak_14_at_OXR1_5end
chr8 107630226 107630237 CAGE_peak_18_at_OXR1_5end
chr8 107630282 107630302 CAGE_peak_13_at_OXR1_5end
chr8 107630313 107630329 CAGE_peak_10_at_OXR1_5end
chr8 107630340 107630359 CAGE_peak_12_at_OXR1_5end
chr8 107669907 107669913 CAGE_peak_20_at_OXR1_5end
chr8 107669952 107669963 CAGE_peak_34_at_OXR1_5end
chr8 107670064 107670132 CAGE_peak_2_at_OXR1_5end
chr8 107670140 107670152 CAGE_peak_9_at_OXR1_5end
chr8 107718962 107718982 CAGE_peak_7_at_OXR1_5end
chr8 107738329 107738340 CAGE_peak_8_at_OXR1_5end
chr8 107738343 107738407 CAGE_peak_3_at_OXR1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I106772 106772659 106773478 0.83 [{'connected_gene': 'OXR1', 'score': 7.22}, {'connected_gene': 'ABRA', 'score': 0.77}, {'connected_gene': 'ENSG00000275905', 'score': 0.08}]
chr8 GH08I106656 106656617 106660701 2.03 [{'connected_gene': 'OXR1', 'score': 572.86}, {'connected_gene': 'LOC105375700', 'score': 550.77}, {'connected_gene': 'RNU7-84P', 'score': 11.27}, {'connected_gene': 'GC08M106689', 'score': 0.29}]
chr8 GH08I106561 106561994 106562244 0.25 [{'connected_gene': 'OXR1', 'score': 2.26}, {'connected_gene': 'LOC105375700', 'score': 0.15}]
chr8 GH08I106499 106499264 106501401 0.71 [{'connected_gene': 'OXR1', 'score': 4.09}, {'connected_gene': 'LOC105375700', 'score': 0.1}]
chr8 GH08I106490 106490803 106495145 0.31 [{'connected_gene': 'OXR1', 'score': 5.94}, {'connected_gene': 'LOC105375700', 'score': 0.1}]
chr8 GH08I106591 106591893 106592200 0.94 [{'connected_gene': 'OXR1', 'score': 25.12}, {'connected_gene': 'LOC105375700', 'score': 0.2}]
chr8 GH08I106667 106667801 106668702 0.82 [{'connected_gene': 'OXR1', 'score': 7.61}, {'connected_gene': 'LOC105375700', 'score': 0.39}, {'connected_gene': 'GC08M106689', 'score': 0.34}]
chr8 GH08I106597 106597621 106599714 0.38 [{'connected_gene': 'OXR1', 'score': 10.21}, {'connected_gene': 'LOC105375700', 'score': 0.22}]
chr8 GH08I106623 106623553 106625759 0.95 [{'connected_gene': 'OXR1', 'score': 15.84}, {'connected_gene': 'LOC105375700', 'score': 0.29}]
chr8 GH08I106621 106621514 106621905 0.25 [{'connected_gene': 'OXR1', 'score': 2.65}, {'connected_gene': 'LOC105375700', 'score': 0.28}]
chr8 GH08I106602 106602570 106602684 0.34 [{'connected_gene': 'OXR1', 'score': 1.52}, {'connected_gene': 'LOC105375700', 'score': 0.22}]
chr8 GH08I106606 106606473 106609727 1.29 [{'connected_gene': 'OXR1', 'score': 13.14}, {'connected_gene': 'LOC105375700', 'score': 0.25}]
chr8 GH08I106588 106588847 106589850 0.31 [{'connected_gene': 'OXR1', 'score': 11.87}, {'connected_gene': 'LOC105375700', 'score': 0.2}]
chr8 GH08I106454 106454986 106456842 0.46 [{'connected_gene': 'OXR1', 'score': 0.09}, {'connected_gene': 'LOC105375700', 'score': 0.08}]
chr8 GH08I106398 106398281 106398901 0.2 [{'connected_gene': 'OXR1', 'score': 0.13}, {'connected_gene': 'LOC105375700', 'score': 0.07}]
chr8 GH08I106461 106461773 106461882 0.38 [{'connected_gene': 'OXR1', 'score': 0.08}, {'connected_gene': 'LOC105375700', 'score': 0.08}]
chr8 GH08I106617 106617353 106618788 0.98 [{'connected_gene': 'OXR1', 'score': 16.54}, {'connected_gene': 'LOC105375700', 'score': 0.28}]
chr8 GH08I106447 106447853 106448002 0.81 [{'connected_gene': 'OXR1', 'score': 560.09}, {'connected_gene': 'ENSG00000254615', 'score': 10.09}, {'connected_gene': 'ENSG00000254021', 'score': 10.09}, {'connected_gene': 'LOC105375700', 'score': 0.08}]
chr8 GH08I106604 106604736 106605562 0.2 [{'connected_gene': 'OXR1', 'score': 7.53}, {'connected_gene': 'LOC105375700', 'score': 0.23}]
chr8 GH08I106315 106315274 106315333 0.5 [{'connected_gene': 'OXR1', 'score': 560.78}, {'connected_gene': 'ENSG00000254615', 'score': 10.78}, {'connected_gene': 'ENSG00000254021', 'score': 10.78}, {'connected_gene': 'LOC105375700', 'score': 0.05}]
chr8 GH08I106669 106669923 106670239 0.63 [{'connected_gene': 'OXR1', 'score': 6.72}, {'connected_gene': 'LOC105375700', 'score': 0.39}, {'connected_gene': 'GC08M106689', 'score': 0.34}]
chr8 GH08I106042 106042379 106042459 0.23 [{'connected_gene': 'OXR1', 'score': 2.07}, {'connected_gene': 'ZFPM2-AS1', 'score': 0.37}, {'connected_gene': 'ENSG00000201627', 'score': 0.14}, {'connected_gene': 'GC08M105930', 'score': 0.14}]
chr8 GH08I106725 106725473 106727000 1.84 [{'connected_gene': 'OXR1', 'score': 550.05}, {'connected_gene': 'GC08M106730', 'score': 0.77}, {'connected_gene': 'TAGLN2P1', 'score': 0.31}]
chr8 GH08I106727 106727401 106727800 0.38 [{'connected_gene': 'OXR1', 'score': 5.93}, {'connected_gene': 'GC08M106730', 'score': 0.77}, {'connected_gene': 'TAGLN2P1', 'score': 0.31}]
chr8 GH08I106759 106759969 106760823 0.4 [{'connected_gene': 'OXR1', 'score': 18.35}, {'connected_gene': 'RNU7-84P', 'score': 11.93}, {'connected_gene': 'ABRA', 'score': 0.44}]
chr8 GH08I106768 106768509 106771089 1.08 [{'connected_gene': 'ABRA', 'score': 550.77}, {'connected_gene': 'OXR1', 'score': 8.51}, {'connected_gene': 'RNU7-84P', 'score': 0.28}]
chr8 GH08I106697 106697163 106697545 0.26 [{'connected_gene': 'TAGLN2P1', 'score': 550.77}, {'connected_gene': 'RNU7-84P', 'score': 12.28}, {'connected_gene': 'OXR1', 'score': 12.03}, {'connected_gene': 'GC08M106689', 'score': 0.77}]
chr8 GH08I106757 106757958 106758339 0.36 [{'connected_gene': 'RNU7-84P', 'score': 11.95}, {'connected_gene': 'OXR1', 'score': 11.68}, {'connected_gene': 'ABRA', 'score': 0.39}]
chr8 GH08I106665 106665073 106665222 0.31 [{'connected_gene': 'RNU7-84P', 'score': 11.28}, {'connected_gene': 'OXR1', 'score': 11.12}, {'connected_gene': 'LOC105375700', 'score': 0.44}, {'connected_gene': 'GC08M106689', 'score': 0.31}]
chr8 GH08I106660 106660801 106661000 0.2 [{'connected_gene': 'RNU7-84P', 'score': 11.28}, {'connected_gene': 'OXR1', 'score': 11.12}, {'connected_gene': 'LOC105375700', 'score': 0.77}, {'connected_gene': 'GC08M106689', 'score': 0.29}]
chr8 GH08I106736 106736201 106736602 0.76 [{'connected_gene': 'RNU7-84P', 'score': 0.44}, {'connected_gene': 'ABRA', 'score': 0.29}, {'connected_gene': 'OXR1', 'score': 0.04}]
chr8 GH08I106434 106434473 106435504 0.66 [{'connected_gene': 'ENSG00000254615', 'score': 4.22}, {'connected_gene': 'OXR1', 'score': 0.1}, {'connected_gene': 'LOC105375700', 'score': 0.07}]
chr8 GH08I106269 106269233 106272567 1.98 [{'connected_gene': 'ENSG00000254615', 'score': 550.77}, {'connected_gene': 'OXR1', 'score': 550.77}, {'connected_gene': 'LOC105375700', 'score': 0.05}]
chr8 GH08I106129 106129153 106129362 0.49 [{'connected_gene': 'ENSG00000254021', 'score': 10.72}, {'connected_gene': 'ENSG00000254615', 'score': 10.71}, {'connected_gene': 'OXR1', 'score': 10.71}, {'connected_gene': 'GC08M106059', 'score': 0.34}, {'connected_gene': 'ZFPM2-AS1', 'score': 0.2}]
chr8 GH08I106205 106205748 106209602 0.79 [{'connected_gene': 'ENSG00000254615', 'score': 15.74}, {'connected_gene': 'OXR1', 'score': 11.0}, {'connected_gene': 'ENSG00000254021', 'score': 11.0}, {'connected_gene': 'SLC16A14P1', 'score': 0.44}, {'connected_gene': 'GC08M106059', 'score': 0.22}]
chr8 GH08I106203 106203653 106203802 0.52 [{'connected_gene': 'ENSG00000254615', 'score': 10.97}, {'connected_gene': 'OXR1', 'score': 10.97}, {'connected_gene': 'ENSG00000254021', 'score': 10.97}, {'connected_gene': 'SLC16A14P1', 'score': 0.39}, {'connected_gene': 'GC08M106059', 'score': 0.23}]
chr8 GH08I106170 106170600 106170902 1.1 [{'connected_gene': 'ENSG00000254615', 'score': 11.02}, {'connected_gene': 'OXR1', 'score': 11.02}, {'connected_gene': 'ENSG00000254021', 'score': 11.02}, {'connected_gene': 'GC08M106059', 'score': 0.34}, {'connected_gene': 'SLC16A14P1', 'score': 0.25}]
chr8 GH08I106723 106723728 106724057 0.35 [{'connected_gene': 'GC08M106730', 'score': 0.44}, {'connected_gene': 'TAGLN2P1', 'score': 0.31}, {'connected_gene': 'OXR1', 'score': 0.05}]

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