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
ENST00000264235 [[119540169, 119545702], [119562101, 119562200], [119582265, 119582452], [119595259, 119595355], [119624601, 119624699], [119631550, 119631657], [119634890, 119635021], [119642219, 119642330], [119666114, 119666198], [119720892, 119721086], [119812193, 119813264]] [[119545634, 119545702], [119562101, 119562200], [119582265, 119582452], [119595259, 119595355], [119624601, 119624699], [119631550, 119631657], [119634890, 119635021], [119642219, 119642330], [119666114, 119666198], [119720892, 119721086], [119812193, 119812281]]
ENST00000316626 [[119545532, 119545702], [119562101, 119562200], [119582265, 119582452], [119585436, 119585475], [119595259, 119595355], [119624601, 119624699], [119631550, 119631657], [119634890, 119635021], [119642219, 119642330], [119666114, 119666198], [119720892, 119721086], [119812193, 119812513]] [[119545634, 119545702], [119562101, 119562200], [119582265, 119582452], [119585436, 119585475], [119595259, 119595355], [119624601, 119624699], [119631550, 119631657], [119634890, 119635021], [119642219, 119642330], [119666114, 119666198], [119720892, 119721086], [119812193, 119812281]]
ENST00000474830 [[119545539, 119545702], [119562101, 119562456]] None
ENST00000473886 [[119545547, 119545702], [119582265, 119582452], [119595259, 119595355]] None
NM_002093 [[119540799, 119545702], [119562101, 119562200], [119582265, 119582452], [119585436, 119585475], [119595259, 119595355], [119624601, 119624699], [119631550, 119631657], [119634890, 119635021], [119642219, 119642330], [119666114, 119666198], [119720892, 119721086], [119812193, 119813264]] [[119545634, 119545702], [119562101, 119562200], [119582265, 119582452], [119585436, 119585475], [119595259, 119595355], [119624601, 119624699], [119631550, 119631657], [119634890, 119635021], [119642219, 119642330], [119666114, 119666198], [119720892, 119721086], [119812193, 119812281]]
NM_001146156 [[119540799, 119545702], [119562101, 119562200], [119582265, 119582452], [119595259, 119595355], [119624601, 119624699], [119631550, 119631657], [119634890, 119635021], [119642219, 119642330], [119666114, 119666198], [119720892, 119721086], [119812193, 119813264]] [[119545634, 119545702], [119562101, 119562200], [119582265, 119582452], [119595259, 119595355], [119624601, 119624699], [119631550, 119631657], [119634890, 119635021], [119642219, 119642330], [119666114, 119666198], [119720892, 119721086], [119812193, 119812281]]
Promoter
Chrom Start End Description
chr3 119813131 119813152 CAGE_peak_3_at_GSK3B_5end
chr3 119813173 119813176 CAGE_peak_9_at_GSK3B_5end
chr3 119813238 119813245 CAGE_peak_7_at_GSK3B_5end
chr3 119813265 119813272 CAGE_peak_6_at_GSK3B_5end
chr3 119813284 119813301 CAGE_peak_1_at_GSK3B_5end
chr3 119813302 119813318 CAGE_peak_2_at_GSK3B_5end
chr3 119813323 119813330 CAGE_peak_4_at_GSK3B_5end
chr3 119813420 119813431 CAGE_peak_5_at_GSK3B_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I119236 119236531 119241764 2.18 [{'connected_gene': 'B4GALT4', 'score': 561.95}, {'connected_gene': 'ARHGAP31', 'score': 10.54}, {'connected_gene': 'GSK3B', 'score': 4.15}, {'connected_gene': 'GC03M119181', 'score': 0.39}, {'connected_gene': 'B4GALT4-AS1', 'score': 0.39}]
chr3 GH03I119742 119742322 119742488 0.35 [{'connected_gene': 'ARHGAP31', 'score': 7.06}, {'connected_gene': 'ADPRH', 'score': 6.75}, {'connected_gene': 'COX17', 'score': 1.88}, {'connected_gene': 'CD80', 'score': 1.6}, {'connected_gene': 'GSK3B', 'score': 1.45}, {'connected_gene': 'ENSG00000239994', 'score': 0.44}, {'connected_gene': 'MAATS1', 'score': 0.28}]
chr3 GH03I119635 119635913 119640405 1.77 [{'connected_gene': 'RPL10P7', 'score': 566.9}, {'connected_gene': 'ADPRH', 'score': 16.22}, {'connected_gene': 'COX17', 'score': 12.37}, {'connected_gene': 'ARHGAP31', 'score': 11.64}, {'connected_gene': 'MAATS1', 'score': 9.8}, {'connected_gene': 'PLA1A', 'score': 4.5}, {'connected_gene': 'GSK3B', 'score': 2.07}, {'connected_gene': 'GC03M119637', 'score': 0.77}, {'connected_gene': 'POPDC2', 'score': 0.31}]
chr3 GH03I120003 120003801 120004803 0.94 [{'connected_gene': 'GSK3B', 'score': 4.72}, {'connected_gene': 'B4GALT4', 'score': 4.43}, {'connected_gene': 'LOC100129707', 'score': 0.34}, {'connected_gene': 'GC03P119973', 'score': 0.29}, {'connected_gene': 'GC03M119752', 'score': 0.18}]
chr3 GH03I120090 120090372 120097503 2.29 [{'connected_gene': 'GSK3B', 'score': 566.45}, {'connected_gene': 'ENSG00000242622', 'score': 550.77}, {'connected_gene': 'POGLUT1', 'score': 12.93}, {'connected_gene': 'TMEM39A', 'score': 12.32}, {'connected_gene': 'GC03M119752', 'score': 0.39}]
chr3 GH03I120135 120135336 120136179 0.76 [{'connected_gene': 'GSK3B', 'score': 7.77}, {'connected_gene': 'GPR156', 'score': 4.94}, {'connected_gene': 'PIR33291', 'score': 0.44}, {'connected_gene': 'RN7SL397P', 'score': 0.39}, {'connected_gene': 'ENSG00000242622', 'score': 0.26}]
chr3 GH03I120151 120151502 120154918 1.26 [{'connected_gene': 'GSK3B', 'score': 7.72}, {'connected_gene': 'GPR156', 'score': 4.42}, {'connected_gene': 'PIR46565', 'score': 0.77}, {'connected_gene': 'LOC105374065', 'score': 0.44}, {'connected_gene': 'GC03P120211', 'score': 0.22}]
chr3 GH03I120157 120157162 120164053 1.51 [{'connected_gene': 'GSK3B', 'score': 8.93}, {'connected_gene': 'GPR156', 'score': 4.78}, {'connected_gene': 'LOC100130701', 'score': 4.21}, {'connected_gene': 'PIR46565', 'score': 0.39}, {'connected_gene': 'LOC105374065', 'score': 0.39}, {'connected_gene': 'GC03P120211', 'score': 0.25}]
chr3 GH03I120175 120175836 120178797 1.11 [{'connected_gene': 'GSK3B', 'score': 8.27}, {'connected_gene': 'GPR156', 'score': 4.45}, {'connected_gene': 'LOC100130701', 'score': 4.23}, {'connected_gene': 'PIR46565', 'score': 0.31}, {'connected_gene': 'GC03P120211', 'score': 0.29}, {'connected_gene': 'LOC105374065', 'score': 0.29}]
chr3 GH03I120566 120566657 120568999 1.15 [{'connected_gene': 'GSK3B', 'score': 4.3}, {'connected_gene': 'ADPRH', 'score': 4.03}, {'connected_gene': 'NDUFB4', 'score': 0.31}, {'connected_gene': 'RPL34P9', 'score': 0.23}]
chr3 GH03I120101 120101620 120103444 0.66 [{'connected_gene': 'GSK3B', 'score': 7.72}, {'connected_gene': 'ENSG00000242622', 'score': 0.44}, {'connected_gene': 'RN7SL762P', 'score': 0.44}]
chr3 GH03I119809 119809272 119810800 0.95 [{'connected_gene': 'GSK3B', 'score': 8.47}, {'connected_gene': 'PHBP8', 'score': 0.37}, {'connected_gene': 'NR1I2', 'score': 0.31}, {'connected_gene': 'GC03P119973', 'score': 0.1}, {'connected_gene': 'GC03M119752', 'score': 0.06}]
chr3 GH03I119831 119831664 119833275 0.38 [{'connected_gene': 'GSK3B', 'score': 6.41}, {'connected_gene': 'PHBP8', 'score': 0.26}, {'connected_gene': 'GC03P119973', 'score': 0.11}, {'connected_gene': 'GC03M119752', 'score': 0.07}]
chr3 GH03I119841 119841087 119841976 0.57 [{'connected_gene': 'GSK3B', 'score': 17.07}, {'connected_gene': 'PHBP8', 'score': 0.25}, {'connected_gene': 'GC03P119973', 'score': 0.12}, {'connected_gene': 'GC03M119752', 'score': 0.07}]
chr3 GH03I119825 119825836 119826484 0.84 [{'connected_gene': 'GSK3B', 'score': 4.45}, {'connected_gene': 'PHBP8', 'score': 0.29}, {'connected_gene': 'GC03P119973', 'score': 0.11}, {'connected_gene': 'GC03M119752', 'score': 0.07}]
chr3 GH03I119993 119993801 119994000 0.49 [{'connected_gene': 'GSK3B', 'score': 10.97}, {'connected_gene': 'GC03P119973', 'score': 0.34}, {'connected_gene': 'LOC100129707', 'score': 0.29}, {'connected_gene': 'GC03M119752', 'score': 0.17}]
chr3 GH03I120089 120089201 120089600 0.38 [{'connected_gene': 'GSK3B', 'score': 5.05}, {'connected_gene': 'GC03M119752', 'score': 0.44}]
chr3 GH03I120088 120088801 120089000 0.31 [{'connected_gene': 'GSK3B', 'score': 0.44}, {'connected_gene': 'GC03M119752', 'score': 0.44}]
chr3 GH03I120202 120202584 120203989 0.89 [{'connected_gene': 'GPR156', 'score': 15.19}, {'connected_gene': 'GSK3B', 'score': 7.54}, {'connected_gene': 'GC03P120211', 'score': 0.44}, {'connected_gene': 'PIR46565', 'score': 0.23}]
chr3 GH03I119626 119626787 119631999 1.5 [{'connected_gene': 'ADPRH', 'score': 32.83}, {'connected_gene': 'MAATS1', 'score': 19.08}, {'connected_gene': 'RPL10P7', 'score': 16.7}, {'connected_gene': 'COX17', 'score': 13.97}, {'connected_gene': 'CD80', 'score': 12.06}, {'connected_gene': 'POPDC2', 'score': 11.76}, {'connected_gene': 'ARHGAP31', 'score': 11.07}, {'connected_gene': 'PLA1A', 'score': 5.9}, {'connected_gene': 'GPR156', 'score': 5.1}, {'connected_gene': 'GSK3B', 'score': 1.98}, {'connected_gene': 'GC03M119637', 'score': 0.44}, {'connected_gene': 'LOC105374062', 'score': 0.34}]
chr3 GH03I119627 119626334 119626547 0.44 [{'connected_gene': 'ADPRH', 'score': 19.09}, {'connected_gene': 'POPDC2', 'score': 11.76}, {'connected_gene': 'CD80', 'score': 10.96}, {'connected_gene': 'MAATS1', 'score': 9.77}, {'connected_gene': 'PLA1A', 'score': 5.57}, {'connected_gene': 'ARHGAP31', 'score': 5.12}, {'connected_gene': 'GSK3B', 'score': 1.45}, {'connected_gene': 'GC03M119637', 'score': 0.44}, {'connected_gene': 'LOC105374062', 'score': 0.34}]
chr3 GH03I120422 120422912 120428399 0.86 [{'connected_gene': 'FSTL1', 'score': 12.96}, {'connected_gene': 'GPR156', 'score': 12.14}, {'connected_gene': 'LOC100130701', 'score': 7.46}, {'connected_gene': 'LRRC58', 'score': 4.71}, {'connected_gene': 'GSK3B', 'score': 4.42}, {'connected_gene': 'ADPRH', 'score': 4.13}, {'connected_gene': 'MIR198', 'score': 0.31}]
chr3 GH03I120143 120143820 120149742 1.5 [{'connected_gene': 'LOC105374065', 'score': 550.77}, {'connected_gene': 'GSK3B', 'score': 9.24}, {'connected_gene': 'LOC100130701', 'score': 6.78}, {'connected_gene': 'GPR156', 'score': 5.01}, {'connected_gene': 'COX17', 'score': 1.76}, {'connected_gene': 'PIR46565', 'score': 0.77}]
chr3 GH03I119823 119823927 119824176 0.4 [{'connected_gene': 'PHBP8', 'score': 0.29}, {'connected_gene': 'GC03P119973', 'score': 0.11}, {'connected_gene': 'GC03M119752', 'score': 0.07}, {'connected_gene': 'GSK3B', 'score': 0.06}]
chr3 GH03I120169 120169370 120172429 0.82 [{'connected_gene': 'LOC100130701', 'score': 24.34}, {'connected_gene': 'GSK3B', 'score': 8.27}, {'connected_gene': 'PIR46565', 'score': 0.34}, {'connected_gene': 'LOC105374065', 'score': 0.31}, {'connected_gene': 'GC03P120211', 'score': 0.28}, {'connected_gene': 'GPR156', 'score': 0.14}]
chr3 GH03I119548 119548975 119552269 0.69 [{'connected_gene': 'GC03M119536', 'score': 550.77}, {'connected_gene': 'POGLUT1', 'score': 6.22}, {'connected_gene': 'TIMMDC1', 'score': 5.95}, {'connected_gene': 'GSK3B', 'score': 4.4}, {'connected_gene': 'CD80', 'score': 0.44}, {'connected_gene': 'CSRP2P1', 'score': 0.37}]
chr3 GH03I120111 120111090 120115489 0.89 [{'connected_gene': 'GC03M120113', 'score': 550.77}, {'connected_gene': 'GSK3B', 'score': 5.81}, {'connected_gene': 'LOC100130701', 'score': 5.61}, {'connected_gene': 'GPR156', 'score': 4.69}, {'connected_gene': 'PIR36596', 'score': 0.77}, {'connected_gene': 'ENSG00000242622', 'score': 0.37}]
chr3 GH03I119974 119974138 119975317 0.43 [{'connected_gene': 'GC03P119973', 'score': 550.77}, {'connected_gene': 'GSK3B', 'score': 10.25}, {'connected_gene': 'LOC100129707', 'score': 0.23}, {'connected_gene': 'GC03M119752', 'score': 0.14}]
chr3 GH03I120079 120079377 120079440 0.22 [{'connected_gene': 'GC03M119752', 'score': 0.77}, {'connected_gene': 'GSK3B', 'score': 0.37}, {'connected_gene': 'ENSG00000241546', 'score': 0.28}]
chr3 GH03I119937 119937196 119937983 0.63 [{'connected_gene': 'GC03P119973', 'score': 0.28}, {'connected_gene': 'PHBP8', 'score': 0.11}, {'connected_gene': 'GC03M119752', 'score': 0.11}, {'connected_gene': 'GSK3B', 'score': 0.1}]
chr3 GH03I119892 119892000 119892400 0.86 [{'connected_gene': 'GC03P119973', 'score': 0.18}, {'connected_gene': 'PHBP8', 'score': 0.15}, {'connected_gene': 'GC03M119752', 'score': 0.08}, {'connected_gene': 'GSK3B', 'score': 0.08}]
chr3 GH03I120028 120028601 120028800 0.2 [{'connected_gene': 'GC03P120029', 'score': 550.77}, {'connected_gene': 'LOC100129707', 'score': 550.77}, {'connected_gene': 'GSK3B', 'score': 5.97}, {'connected_gene': 'GC03M119752', 'score': 0.23}, {'connected_gene': 'GC03P119973', 'score': 0.22}]
chr3 GH03I119973 119973474 119973623 0.72 [{'connected_gene': 'GC03P119973', 'score': 550.77}, {'connected_gene': 'LOC100129707', 'score': 0.22}, {'connected_gene': 'GC03M119752', 'score': 0.14}, {'connected_gene': 'GSK3B', 'score': 0.13}]