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
ENST00000495893 [[169805371, 169815172], [169820266, 169820498], [169820589, 169820722], [169824619, 169824734], [169831147, 169831307], [169835013, 169835264], [169840378, 169840532], [169846471, 169847340], [169854206, 169854453], [169863210, 169863309], [169866873, 169867032], [169889160, 169889238], [169890344, 169890500], [169896560, 169896726], [169899489, 169899535]] [[169815017, 169815172], [169820266, 169820498], [169820589, 169820722], [169824619, 169824734], [169831147, 169831307], [169835013, 169835264], [169840378, 169840532], [169846471, 169847340], [169854206, 169854453], [169863210, 169863309], [169866873, 169867032], [169889160, 169889238], [169890344, 169890500], [169896560, 169896726], [169899489, 169899503]]
ENST00000494943 [[169813008, 169815172], [169820266, 169820498], [169820589, 169820722], [169824619, 169824734], [169831147, 169831307], [169835013, 169835264], [169840378, 169840532], [169846471, 169847340], [169854206, 169854453], [169863210, 169863309], [169866873, 169867032], [169889160, 169889238], [169890344, 169890500], [169896560, 169896726], [169899474, 169899521]] [[169815017, 169815172], [169820266, 169820498], [169820589, 169820722], [169824619, 169824734], [169831147, 169831307], [169835013, 169835264], [169840378, 169840532], [169846471, 169847340], [169854206, 169854453], [169863210, 169863309], [169866873, 169867032], [169889160, 169889238], [169890344, 169890500], [169896560, 169896704]]
ENST00000467570 [[169820354, 169820473], [169820589, 169820722], [169824619, 169824734], [169831147, 169831307], [169835013, 169835264], [169840378, 169840532], [169846471, 169847340], [169854206, 169854453], [169863210, 169863309], [169889160, 169889238], [169890344, 169890500], [169896560, 169896726], [169899489, 169899537]] [[169820428, 169820473], [169820589, 169820722], [169824619, 169824734], [169831147, 169831307], [169835013, 169835264], [169840378, 169840532], [169846471, 169847340], [169854206, 169854453], [169863210, 169863309], [169889160, 169889238], [169890344, 169890500], [169896560, 169896726], [169899489, 169899503]]
ENST00000484931 [[169847095, 169847340], [169889177, 169889238], [169890344, 169890500], [169896560, 169896726], [169899489, 169899518]] [[169847095, 169847340], [169889177, 169889238], [169890344, 169890500], [169896560, 169896726], [169899489, 169899503]]
ENST00000479467 [[169854153, 169854453], [169863210, 169863309], [169866873, 169867032], [169889177, 169889238], [169890344, 169890500], [169896560, 169896726], [169899489, 169899535]] [[169863265, 169863309], [169866873, 169867032], [169889177, 169889238], [169890344, 169890500], [169896560, 169896726], [169899489, 169899503]]
ENST00000466189 [[169854321, 169854453], [169889160, 169889238], [169890344, 169890500], [169896560, 169896726], [169899489, 169899537]] [[169854321, 169854453], [169889160, 169889238], [169890344, 169890500], [169896560, 169896726], [169899489, 169899503]]
ENST00000475729 [[169854383, 169854453], [169863210, 169863309], [169866873, 169867032], [169889160, 169889238], [169890344, 169890500], [169896560, 169896726], [169899489, 169899533]] [[169854383, 169854453], [169863210, 169863309], [169866873, 169867032], [169889160, 169889238], [169890344, 169890500], [169896560, 169896726], [169899489, 169899503]]
ENST00000474275 [[169865035, 169867032], [169889160, 169889238], [169890344, 169890488], [169896560, 169896726], [169899474, 169899516]] [[169866837, 169867032], [169889160, 169889238], [169890344, 169890488], [169896560, 169896704]]
ENST00000472330 [[169866921, 169867032], [169889160, 169889238], [169890344, 169890500], [169894652, 169894713], [169896560, 169896726], [169899474, 169899511]] [[169894683, 169894713], [169896560, 169896704]]
ENST00000465896 [[169868394, 169868497], [169889160, 169889238], [169890344, 169890500], [169896560, 169896726], [169899489, 169899524]] [[169868394, 169868497], [169889160, 169889238], [169890344, 169890500], [169896560, 169896726], [169899489, 169899503]]
ENST00000484068 [[169804519, 169804889], [169814959, 169815172], [169820266, 169820498], [169820589, 169820687]] [[169815017, 169815172], [169820266, 169820498], [169820589, 169820687]]
ENST00000486042 [[169834910, 169835264], [169840378, 169840532], [169846127, 169846175], [169846471, 169846595]] [[169834920, 169835264], [169840378, 169840532], [169846127, 169846175], [169846471, 169846595]]
ENST00000497171 [[169847172, 169847340], [169854206, 169854458]] None
ENST00000497658 [[169887505, 169889238], [169890344, 169890500], [169896560, 169896726], [169899489, 169899521]] [[169889118, 169889238], [169890344, 169890500], [169896560, 169896726], [169899489, 169899503]]
ENST00000481639 [[169888519, 169889238], [169890344, 169890488], [169896560, 169896726], [169899489, 169899535]] [[169889118, 169889238], [169890344, 169890488], [169896560, 169896726], [169899489, 169899503]]
ENST00000491258 [[169888873, 169889238], [169890344, 169890500], [169896560, 169896726], [169899489, 169899521]] None
ENST00000490723 [[169889050, 169889238], [169890344, 169890420]] None
NM_001308116 [[169805367, 169815172], [169820266, 169820498], [169820589, 169820722], [169824619, 169824734], [169831147, 169831307], [169835013, 169835264], [169840378, 169840532], [169846471, 169847340], [169854206, 169854453], [169863210, 169863309], [169866873, 169867032], [169889160, 169889238], [169890344, 169890500], [169896560, 169896726], [169899474, 169899537]] [[169815017, 169815172], [169820266, 169820498], [169820589, 169820722], [169824619, 169824734], [169831147, 169831307], [169835013, 169835264], [169840378, 169840532], [169846471, 169847340], [169854206, 169854453], [169863210, 169863309], [169866873, 169867032], [169889160, 169889238], [169890344, 169890500], [169896560, 169896704]]
NM_024947 [[169805367, 169815172], [169820266, 169820498], [169820589, 169820722], [169824619, 169824734], [169831147, 169831307], [169835013, 169835264], [169840378, 169840532], [169846471, 169847340], [169854206, 169854453], [169863210, 169863309], [169866873, 169867032], [169889160, 169889238], [169890344, 169890500], [169896560, 169896726], [169899489, 169899537]] [[169815017, 169815172], [169820266, 169820498], [169820589, 169820722], [169824619, 169824734], [169831147, 169831307], [169835013, 169835264], [169840378, 169840532], [169846471, 169847340], [169854206, 169854453], [169863210, 169863309], [169866873, 169867032], [169889160, 169889238], [169890344, 169890500], [169896560, 169896726], [169899489, 169899503]]
Promoter
Chrom Start End Description
chr3 169896625 169896658 CAGE_peak_4_at_PHC3_5end
chr3 169899504 169899542 CAGE_peak_1_at_PHC3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I170512 170512857 170515155 0.49 [{'connected_gene': 'PHC3', 'score': 17.35}, {'connected_gene': 'MYNN', 'score': 16.98}, {'connected_gene': 'CLDN11', 'score': 13.73}, {'connected_gene': 'RPL22L1', 'score': 10.55}, {'connected_gene': 'SEC62-AS1', 'score': 10.03}, {'connected_gene': 'KRT8P13', 'score': 0.37}, {'connected_gene': 'SLC7A14', 'score': 0.19}]
chr3 GH03I170189 170189112 170189600 0.94 [{'connected_gene': 'PHC3', 'score': 0.44}, {'connected_gene': 'PRKCI', 'score': 0.29}]
chr3 GH03I170178 170178615 170182482 2.24 [{'connected_gene': 'PHC3', 'score': 561.52}, {'connected_gene': 'GPR160', 'score': 30.55}, {'connected_gene': 'MYNN', 'score': 21.55}, {'connected_gene': 'SEC62-AS1', 'score': 12.4}, {'connected_gene': 'RPL22L1', 'score': 9.95}, {'connected_gene': 'GC03P170161', 'score': 0.37}]
chr3 GH03I170006 170006732 170007600 1.06 [{'connected_gene': 'PHC3', 'score': 17.38}, {'connected_gene': 'GPR160', 'score': 17.1}, {'connected_gene': 'MYNN', 'score': 17.03}, {'connected_gene': 'LOC100128164', 'score': 16.39}, {'connected_gene': 'RNU4-38P', 'score': 11.54}, {'connected_gene': 'RPL22P1', 'score': 11.27}, {'connected_gene': 'SAMD7', 'score': 10.83}, {'connected_gene': 'LRRIQ4', 'score': 10.82}, {'connected_gene': 'LRRC34', 'score': 10.82}, {'connected_gene': 'SEC62', 'score': 10.8}, {'connected_gene': 'RPL22L1', 'score': 10.52}, {'connected_gene': 'SEC62-AS1', 'score': 10.34}]
chr3 GH03I170907 170907391 170910241 2.31 [{'connected_gene': 'EIF5A2', 'score': 555.74}, {'connected_gene': 'PHC3', 'score': 29.19}, {'connected_gene': 'SEC62-AS1', 'score': 22.35}, {'connected_gene': 'RPL22L1', 'score': 18.29}, {'connected_gene': 'PRKCI', 'score': 10.42}, {'connected_gene': 'GC03M170953', 'score': 0.25}]
chr3 GH03I169768 169768804 169770225 1.94 [{'connected_gene': 'MYNN', 'score': 572.27}, {'connected_gene': 'ENSG00000269889', 'score': 550.77}, {'connected_gene': 'ACTRT3', 'score': 550.77}, {'connected_gene': 'SEC62-AS1', 'score': 12.39}, {'connected_gene': 'PHC3', 'score': 10.79}, {'connected_gene': 'LRRC34', 'score': 9.55}, {'connected_gene': 'GC03M169768', 'score': 0.77}, {'connected_gene': 'GC03M169659', 'score': 0.12}]
chr3 GH03I170698 170698852 170700011 1.08 [{'connected_gene': 'MYNN', 'score': 18.73}, {'connected_gene': 'PHC3', 'score': 14.02}, {'connected_gene': 'SEC62-AS1', 'score': 12.07}, {'connected_gene': 'PRKCI', 'score': 10.44}, {'connected_gene': 'RPL22L1', 'score': 9.8}, {'connected_gene': 'CLDN11', 'score': 6.63}, {'connected_gene': 'LOC101928583', 'score': 0.26}, {'connected_gene': 'ENSG00000239739', 'score': 0.26}]
chr3 GH03I170729 170729961 170730822 1.18 [{'connected_gene': 'MYNN', 'score': 18.73}, {'connected_gene': 'PHC3', 'score': 14.02}, {'connected_gene': 'SEC62-AS1', 'score': 12.07}, {'connected_gene': 'PRKCI', 'score': 10.43}, {'connected_gene': 'RPL22L1', 'score': 9.82}, {'connected_gene': 'LOC101928583', 'score': 5.81}, {'connected_gene': 'ENSG00000239739', 'score': 0.39}, {'connected_gene': 'CLDN11', 'score': 0.06}]
chr3 GH03I170764 170764990 170767781 1.19 [{'connected_gene': 'MYNN', 'score': 18.73}, {'connected_gene': 'PHC3', 'score': 14.02}, {'connected_gene': 'SEC62-AS1', 'score': 12.07}, {'connected_gene': 'PRKCI', 'score': 10.42}, {'connected_gene': 'RPL22L1', 'score': 9.86}, {'connected_gene': 'LOC101928583', 'score': 6.11}, {'connected_gene': 'LOC105374211', 'score': 0.77}, {'connected_gene': 'ENSG00000239739', 'score': 0.31}, {'connected_gene': 'CLDN11', 'score': 0.05}]
chr3 GH03I169699 169699633 169699782 0.49 [{'connected_gene': 'MYNN', 'score': 18.19}, {'connected_gene': 'PHC3', 'score': 17.08}, {'connected_gene': 'SEC62-AS1', 'score': 12.1}, {'connected_gene': 'RPL22P1', 'score': 9.72}, {'connected_gene': 'SDHDP3', 'score': 0.44}, {'connected_gene': 'MECOM', 'score': 0.28}, {'connected_gene': 'GC03M169659', 'score': 0.08}]
chr3 GH03I170370 170370070 170373256 0.54 [{'connected_gene': 'MYNN', 'score': 21.53}, {'connected_gene': 'SEC62-AS1', 'score': 12.37}, {'connected_gene': 'PHC3', 'score': 10.83}, {'connected_gene': 'RPL22L1', 'score': 9.97}, {'connected_gene': 'ENSG00000239628', 'score': 5.99}, {'connected_gene': 'SKIL', 'score': 5.57}, {'connected_gene': 'ENSG00000242578', 'score': 0.28}]
chr3 GH03I170367 170367201 170367400 0.69 [{'connected_gene': 'MYNN', 'score': 21.53}, {'connected_gene': 'SEC62-AS1', 'score': 12.36}, {'connected_gene': 'PHC3', 'score': 10.83}, {'connected_gene': 'RPL22L1', 'score': 9.95}, {'connected_gene': 'SKIL', 'score': 0.44}, {'connected_gene': 'ENSG00000242578', 'score': 0.26}]
chr3 GH03I170363 170363201 170364000 0.66 [{'connected_gene': 'MYNN', 'score': 21.53}, {'connected_gene': 'SEC62-AS1', 'score': 12.36}, {'connected_gene': 'PHC3', 'score': 10.83}, {'connected_gene': 'RPL22L1', 'score': 9.95}, {'connected_gene': 'SKIL', 'score': 0.44}, {'connected_gene': 'ENSG00000242578', 'score': 0.25}]
chr3 GH03I169505 169505986 169506358 0.66 [{'connected_gene': 'MYNN', 'score': 21.57}, {'connected_gene': 'SEC62-AS1', 'score': 12.36}, {'connected_gene': 'PHC3', 'score': 10.77}, {'connected_gene': 'RPL22P1', 'score': 0.34}, {'connected_gene': 'GC03P169608', 'score': 0.15}, {'connected_gene': 'MECOM', 'score': 0.1}]
chr3 GH03I169771 169771401 169774759 2.11 [{'connected_gene': 'MYNN', 'score': 584.64}, {'connected_gene': 'PIR36992', 'score': 550.77}, {'connected_gene': 'TRV-AAC1-1', 'score': 550.77}, {'connected_gene': 'PHC3', 'score': 16.6}, {'connected_gene': 'PRKCI', 'score': 15.17}, {'connected_gene': 'SEC62-AS1', 'score': 14.08}, {'connected_gene': 'CLDN11', 'score': 9.72}, {'connected_gene': 'LRRC34', 'score': 8.9}, {'connected_gene': 'ENSG00000270096', 'score': 6.89}, {'connected_gene': 'ENSG00000269889', 'score': 0.77}, {'connected_gene': 'ENSG00000269984', 'score': 0.44}, {'connected_gene': 'GC03M169659', 'score': 0.13}]
chr3 GH03I170132 170132453 170132602 1.02 [{'connected_gene': 'MYNN', 'score': 17.97}, {'connected_gene': 'RNU7-32P', 'score': 12.67}, {'connected_gene': 'PHC3', 'score': 11.6}, {'connected_gene': 'SEC62-AS1', 'score': 10.4}, {'connected_gene': 'GC03M170140', 'score': 0.44}, {'connected_gene': 'LOC105374209', 'score': 0.31}]
chr3 GH03I170221 170221601 170225000 2.53 [{'connected_gene': 'PRKCI', 'score': 562.12}, {'connected_gene': 'ENSG00000270096', 'score': 29.99}, {'connected_gene': 'MYNN', 'score': 28.9}, {'connected_gene': 'SEC62-AS1', 'score': 25.1}, {'connected_gene': 'PHC3', 'score': 19.86}, {'connected_gene': 'RPL22P1', 'score': 12.17}, {'connected_gene': 'GPR160', 'score': 11.14}, {'connected_gene': 'RPL22L1', 'score': 10.62}, {'connected_gene': 'SLC7A14', 'score': 10.16}, {'connected_gene': 'LRRC34', 'score': 9.77}, {'connected_gene': 'ENSG00000270135', 'score': 9.69}, {'connected_gene': 'LRRIQ4', 'score': 1.58}, {'connected_gene': 'GC03P170245', 'score': 0.34}]
chr3 GH03I170144 170144274 170146444 0.71 [{'connected_gene': 'GPR160', 'score': 35.49}, {'connected_gene': 'GC03P170150', 'score': 0.77}, {'connected_gene': 'GC03M170140', 'score': 0.77}, {'connected_gene': 'PHC3', 'score': 0.28}]
chr3 GH03I170164 170164201 170165720 0.43 [{'connected_gene': 'GPR160', 'score': 32.83}, {'connected_gene': 'GC03P170161', 'score': 0.77}, {'connected_gene': 'PHC3', 'score': 0.37}]
chr3 GH03I170168 170168788 170173982 0.52 [{'connected_gene': 'GPR160', 'score': 35.41}, {'connected_gene': 'PHC3', 'score': 0.39}, {'connected_gene': 'GC03P170161', 'score': 0.39}]
chr3 GH03I170174 170174233 170175919 0.31 [{'connected_gene': 'GPR160', 'score': 16.82}, {'connected_gene': 'PHC3', 'score': 0.44}, {'connected_gene': 'GC03P170161', 'score': 0.39}]
chr3 GH03I170138 170138235 170140717 0.2 [{'connected_gene': 'GPR160', 'score': 33.43}, {'connected_gene': 'GC03M170140', 'score': 0.77}, {'connected_gene': 'LOC105374209', 'score': 0.28}, {'connected_gene': 'PHC3', 'score': 0.26}]
chr3 GH03I170127 170127055 170129961 1.05 [{'connected_gene': 'GPR160', 'score': 33.35}, {'connected_gene': 'GC03M170140', 'score': 0.39}, {'connected_gene': 'LOC105374209', 'score': 0.31}, {'connected_gene': 'PHC3', 'score': 0.23}]
chr3 GH03I170156 170156810 170158293 0.31 [{'connected_gene': 'GPR160', 'score': 31.27}, {'connected_gene': 'RNU7-32P', 'score': 0.77}, {'connected_gene': 'GC03P170151', 'score': 0.44}, {'connected_gene': 'PHC3', 'score': 0.34}]
chr3 GH03I170153 170153770 170155881 1.23 [{'connected_gene': 'GPR160', 'score': 35.42}, {'connected_gene': 'GC03P170151', 'score': 0.77}, {'connected_gene': 'RNU7-32P', 'score': 0.44}, {'connected_gene': 'PHC3', 'score': 0.31}]
chr3 GH03I170203 170203753 170204751 0.68 [{'connected_gene': 'GPR160', 'score': 15.01}, {'connected_gene': 'RNU7-32P', 'score': 11.41}, {'connected_gene': 'PRKCI', 'score': 0.37}, {'connected_gene': 'PHC3', 'score': 0.34}]
chr3 GH03I170135 170135224 170138129 0.31 [{'connected_gene': 'GPR160', 'score': 16.56}, {'connected_gene': 'RNU7-32P', 'score': 12.98}, {'connected_gene': 'GC03M170140', 'score': 0.44}, {'connected_gene': 'LOC105374209', 'score': 0.29}, {'connected_gene': 'PHC3', 'score': 0.25}]
chr3 GH03I169657 169657493 169669842 2.72 [{'connected_gene': 'MECOM', 'score': 553.96}, {'connected_gene': 'MYNN', 'score': 61.47}, {'connected_gene': 'ENSG00000270096', 'score': 46.64}, {'connected_gene': 'PHC3', 'score': 43.5}, {'connected_gene': 'SEC62-AS1', 'score': 41.89}, {'connected_gene': 'PRKCI', 'score': 22.45}, {'connected_gene': 'RPL22P1', 'score': 12.24}, {'connected_gene': 'SLC7A14', 'score': 10.13}, {'connected_gene': 'ACTRT3', 'score': 4.31}, {'connected_gene': 'ENSG00000242795', 'score': 0.28}, {'connected_gene': 'GC03M169659', 'score': 0.07}]
chr3 GH03I170866 170866860 170871683 2.34 [{'connected_gene': 'RPL22L1', 'score': 580.44}, {'connected_gene': 'PHC3', 'score': 13.27}, {'connected_gene': 'SEC62-AS1', 'score': 11.15}, {'connected_gene': 'RNY5P3', 'score': 0.31}]
chr3 GH03I170800 170800951 170804634 1 [{'connected_gene': 'SEC62-AS1', 'score': 13.59}, {'connected_gene': 'PHC3', 'score': 13.15}, {'connected_gene': 'LRRC34', 'score': 9.74}, {'connected_gene': 'LOC101928583', 'score': 4.48}, {'connected_gene': 'LOC105374211', 'score': 0.29}, {'connected_gene': 'RNY5P3', 'score': 0.28}, {'connected_gene': 'CLDN11', 'score': 0.05}]
chr3 GH03I170206 170206533 170206662 0.67 [{'connected_gene': 'RNU7-32P', 'score': 11.39}, {'connected_gene': 'GPR160', 'score': 7.53}, {'connected_gene': 'PRKCI', 'score': 0.37}, {'connected_gene': 'PHC3', 'score': 0.34}]
chr3 GH03I169964 169964985 169968909 2.29 [{'connected_gene': 'LOC100128164', 'score': 565.04}, {'connected_gene': 'SEC62', 'score': 550.77}, {'connected_gene': 'MYNN', 'score': 21.59}, {'connected_gene': 'SEC62-AS1', 'score': 12.68}, {'connected_gene': 'LRRC31', 'score': 11.65}, {'connected_gene': 'GPR160', 'score': 11.54}, {'connected_gene': 'PHC3', 'score': 10.82}, {'connected_gene': 'RPL22L1', 'score': 9.95}]
chr3 GH03I169762 169762886 169765951 1.79 [{'connected_gene': 'GC03M169769', 'score': 550.77}, {'connected_gene': 'GC03M169767', 'score': 550.77}, {'connected_gene': 'TERC', 'score': 550.77}, {'connected_gene': 'ENSG00000277925', 'score': 550.77}, {'connected_gene': 'GC03M169768', 'score': 550.77}, {'connected_gene': 'MYNN', 'score': 33.78}, {'connected_gene': 'SEC62-AS1', 'score': 20.39}, {'connected_gene': 'PHC3', 'score': 20.12}, {'connected_gene': 'PRKCI', 'score': 12.76}, {'connected_gene': 'RPL22P1', 'score': 10.06}, {'connected_gene': 'LRRC34', 'score': 7.28}, {'connected_gene': 'PIR60567', 'score': 0.39}, {'connected_gene': 'GC03M169659', 'score': 0.12}]
chr3 GH03I170739 170739944 170743126 1.12 [{'connected_gene': 'ENSG00000239739', 'score': 550.77}, {'connected_gene': 'MYNN', 'score': 28.21}, {'connected_gene': 'SEC62-AS1', 'score': 21.34}, {'connected_gene': 'PHC3', 'score': 17.07}, {'connected_gene': 'RPL22L1', 'score': 14.64}, {'connected_gene': 'SLC7A14', 'score': 10.02}, {'connected_gene': 'LOC101928583', 'score': 6.24}, {'connected_gene': 'LOC105374211', 'score': 0.31}, {'connected_gene': 'CLDN11', 'score': 0.05}]
chr3 GH03I170159 170159146 170163629 0.6 [{'connected_gene': 'GC03P170161', 'score': 550.77}, {'connected_gene': 'RNU7-32P', 'score': 550.77}, {'connected_gene': 'GPR160', 'score': 33.42}, {'connected_gene': 'PRKCI', 'score': 9.92}, {'connected_gene': 'PHC3', 'score': 0.34}]

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