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
ENST00000457734 [[142315228, 142315351], [142383043, 142383149], [142388231, 142388395], [142389834, 142389964], [142394998, 142395131], [142396873, 142396955], [142402847, 142403013], [142403094, 142403237], [142405125, 142405218], [142408459, 142408655], [142413310, 142413389], [142416794, 142416909], [142422709, 142422843], [142423304, 142423428], [142430342, 142430467], [142430713, 142432506]] [[142383079, 142383149], [142388231, 142388395], [142389834, 142389964], [142394998, 142395131], [142396873, 142396955], [142402847, 142403013], [142403094, 142403237], [142405125, 142405218], [142408459, 142408655], [142413310, 142413389], [142416794, 142416909], [142422709, 142422843], [142423304, 142423428], [142430342, 142430467], [142430713, 142430849]]
ENST00000483373 [[142315257, 142315351], [142346657, 142346750], [142364137, 142364422], [142383043, 142383149], [142388231, 142388261]] [[142383079, 142383149], [142388231, 142388261]]
ENST00000475296 [[142315259, 142315351], [142346657, 142346750], [142383043, 142383149], [142388231, 142388395], [142389834, 142389959]] [[142383079, 142383149], [142388231, 142388395], [142389834, 142389959]]
ENST00000495744 [[142315273, 142315351], [142364137, 142364422], [142383043, 142383149], [142388231, 142388336]] [[142383079, 142383149], [142388231, 142388336]]
ENST00000476044 [[142315279, 142315351], [142388231, 142388395], [142389834, 142389964], [142394998, 142395131], [142396873, 142396955], [142402847, 142403013], [142403094, 142403237], [142405125, 142405218], [142408459, 142408514]] [[142389837, 142389964], [142394998, 142395131], [142396873, 142396955], [142402847, 142403013], [142403094, 142403237], [142405125, 142405218], [142408459, 142408514]]
ENST00000461644 [[142315281, 142315351], [142316078, 142316190], [142338294, 142338480], [142383043, 142383149], [142388231, 142388324]] [[142383079, 142383149], [142388231, 142388324]]
ENST00000464320 [[142315296, 142315351], [142316078, 142316190], [142383043, 142383149], [142388231, 142388395], [142389834, 142389961]] [[142383079, 142383149], [142388231, 142388395], [142389834, 142389961]]
ENST00000337777 [[142342227, 142342404], [142383043, 142383149], [142388231, 142388395], [142389834, 142389964], [142394998, 142395131], [142396873, 142396955], [142402847, 142403013], [142403094, 142403237], [142405125, 142405218], [142408459, 142408655], [142413310, 142413389], [142416794, 142416909], [142422709, 142422843], [142423304, 142423428], [142430342, 142430467], [142430713, 142432501]] [[142383079, 142383149], [142388231, 142388395], [142389834, 142389964], [142394998, 142395131], [142396873, 142396955], [142402847, 142403013], [142403094, 142403237], [142405125, 142405218], [142408459, 142408655], [142413310, 142413389], [142416794, 142416909], [142422709, 142422843], [142423304, 142423428], [142430342, 142430467], [142430713, 142430849]]
ENST00000497199 [[142342248, 142342404], [142364137, 142364422], [142383043, 142383149], [142388231, 142388319]] [[142383079, 142383149], [142388231, 142388319]]
ENST00000497002 [[142375738, 142376022], [142383043, 142383149], [142388231, 142388395], [142389834, 142389964], [142394998, 142395131], [142396873, 142396955], [142402847, 142403013], [142403094, 142403237], [142405125, 142405218], [142408459, 142408655], [142413310, 142413389], [142416794, 142416909], [142422709, 142422843], [142423304, 142423428], [142430342, 142430467], [142430713, 142430897]] [[142383079, 142383149], [142388231, 142388395], [142389834, 142389964], [142394998, 142395131], [142396873, 142396955], [142402847, 142403013], [142403094, 142403237], [142405125, 142405218], [142408459, 142408655], [142413310, 142413389], [142416794, 142416909], [142422709, 142422843], [142423304, 142423428], [142430342, 142430467], [142430713, 142430849]]
ENST00000460104 [[142382963, 142383149], [142388231, 142388395], [142389834, 142389887]] None
ENST00000483507 [[142408471, 142408655], [142413310, 142413389], [142416794, 142417280]] None
NM_001145319 [[142315228, 142315351], [142383043, 142383149], [142388231, 142388395], [142389834, 142389964], [142394998, 142395131], [142396873, 142396955], [142402847, 142403013], [142403094, 142403237], [142405125, 142405218], [142408459, 142408655], [142413310, 142413389], [142416794, 142416909], [142422709, 142422843], [142423304, 142423428], [142430342, 142430467], [142430713, 142432506]] [[142383079, 142383149], [142388231, 142388395], [142389834, 142389964], [142394998, 142395131], [142396873, 142396955], [142402847, 142403013], [142403094, 142403237], [142405125, 142405218], [142408459, 142408655], [142413310, 142413389], [142416794, 142416909], [142422709, 142422843], [142423304, 142423428], [142430342, 142430467], [142430713, 142430849]]
NM_002670 [[142342265, 142342404], [142383043, 142383149], [142388231, 142388395], [142389834, 142389964], [142394998, 142395131], [142396873, 142396955], [142402847, 142403013], [142403094, 142403237], [142405125, 142405218], [142408459, 142408655], [142413310, 142413389], [142416794, 142416909], [142422709, 142422843], [142423304, 142423428], [142430342, 142430467], [142430713, 142432506]] [[142383079, 142383149], [142388231, 142388395], [142389834, 142389964], [142394998, 142395131], [142396873, 142396955], [142402847, 142403013], [142403094, 142403237], [142405125, 142405218], [142408459, 142408655], [142413310, 142413389], [142416794, 142416909], [142422709, 142422843], [142423304, 142423428], [142430342, 142430467], [142430713, 142430849]]
NM_001172312 [[142375738, 142376022], [142383043, 142383149], [142388231, 142388395], [142389834, 142389964], [142394998, 142395131], [142396873, 142396955], [142402847, 142403013], [142403094, 142403237], [142405125, 142405218], [142408459, 142408655], [142413310, 142413389], [142416794, 142416909], [142422709, 142422843], [142423304, 142423428], [142430342, 142430467], [142430713, 142432506]] [[142383079, 142383149], [142388231, 142388395], [142389834, 142389964], [142394998, 142395131], [142396873, 142396955], [142402847, 142403013], [142403094, 142403237], [142405125, 142405218], [142408459, 142408655], [142413310, 142413389], [142416794, 142416909], [142422709, 142422843], [142423304, 142423428], [142430342, 142430467], [142430713, 142430849]]
Promoter
Chrom Start End Description
chr3 142315225 142315290 CAGE_peak_1_at_PLS1_5end
chr3 142315294 142315315 CAGE_peak_3_at_PLS1_5end
chr3 142342233 142342236 CAGE_peak_6_at_PLS1_5end
chr3 142342240 142342247 CAGE_peak_4_at_PLS1_5end
chr3 142342260 142342309 CAGE_peak_2_at_PLS1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I142594 142594894 142598741 2.07 [{'connected_gene': 'PLS1', 'score': 556.45}, {'connected_gene': 'ATR', 'score': 7.11}, {'connected_gene': 'XRN1', 'score': 4.91}, {'connected_gene': 'PLS1-AS1', 'score': 0.22}, {'connected_gene': 'LOC105374136', 'score': 0.21}]
chr3 GH03I142618 142618228 142619868 0.84 [{'connected_gene': 'PLS1', 'score': 17.7}, {'connected_gene': 'RNA5SP143', 'score': 11.63}, {'connected_gene': 'ATR', 'score': 6.64}, {'connected_gene': 'XRN1', 'score': 5.75}, {'connected_gene': 'PLS1-AS1', 'score': 0.28}, {'connected_gene': 'LOC105374136', 'score': 0.28}]
chr3 GH03I142662 142662762 142666373 0.54 [{'connected_gene': 'PLS1', 'score': 11.4}, {'connected_gene': 'RNA5SP143', 'score': 11.39}, {'connected_gene': 'ATR', 'score': 6.0}, {'connected_gene': 'GC03P142674', 'score': 0.44}, {'connected_gene': 'LOC105374136', 'score': 0.44}]
chr3 GH03I142647 142647692 142648404 0.67 [{'connected_gene': 'PLS1', 'score': 10.69}, {'connected_gene': 'RNA5SP143', 'score': 10.68}, {'connected_gene': 'ATR', 'score': 8.3}, {'connected_gene': 'PLS1-AS1', 'score': 0.44}, {'connected_gene': 'LOC105374136', 'score': 0.44}]
chr3 GH03I142904 142904594 142905399 0.88 [{'connected_gene': 'PLS1', 'score': 10.61}, {'connected_gene': 'RNA5SP143', 'score': 10.6}, {'connected_gene': 'PCOLCE2', 'score': 9.67}, {'connected_gene': 'LOC100507389', 'score': 0.34}]
chr3 GH03I142645 142645099 142646608 0.59 [{'connected_gene': 'PLS1', 'score': 11.29}, {'connected_gene': 'RNA5SP143', 'score': 11.28}, {'connected_gene': 'PLS1-AS1', 'score': 0.39}, {'connected_gene': 'LOC105374136', 'score': 0.39}]
chr3 GH03I142623 142623375 142623434 0.68 [{'connected_gene': 'PLS1', 'score': 561.63}, {'connected_gene': 'RNA5SP143', 'score': 11.61}, {'connected_gene': 'PLS1-AS1', 'score': 0.29}, {'connected_gene': 'LOC105374136', 'score': 0.29}]
chr3 GH03I142622 142622559 142622708 0.2 [{'connected_gene': 'PLS1', 'score': 11.63}, {'connected_gene': 'RNA5SP143', 'score': 11.61}, {'connected_gene': 'PLS1-AS1', 'score': 0.29}, {'connected_gene': 'LOC105374136', 'score': 0.29}]
chr3 GH03I142646 142646813 142646872 0.5 [{'connected_gene': 'PLS1', 'score': 560.69}, {'connected_gene': 'RNA5SP143', 'score': 10.68}, {'connected_gene': 'PLS1-AS1', 'score': 0.44}, {'connected_gene': 'LOC105374136', 'score': 0.39}]
chr3 GH03I142601 142601585 142604011 0.31 [{'connected_gene': 'ATR', 'score': 17.24}, {'connected_gene': 'RPL6P9', 'score': 10.82}, {'connected_gene': 'XRN1', 'score': 7.45}, {'connected_gene': 'PLS1', 'score': 6.13}, {'connected_gene': 'PLS1-AS1', 'score': 0.23}, {'connected_gene': 'LOC105374136', 'score': 0.23}]
chr3 GH03I142862 142862619 142864552 1.03 [{'connected_gene': 'PCOLCE2', 'score': 11.82}, {'connected_gene': 'LOC100507389', 'score': 10.75}, {'connected_gene': 'PLS1', 'score': 10.14}, {'connected_gene': 'RNA5SP143', 'score': 10.14}, {'connected_gene': 'RPL8P3', 'score': 0.28}]
chr3 GH03I142997 142997309 143003533 2.3 [{'connected_gene': 'U2SURP', 'score': 568.2}, {'connected_gene': 'LOC100289361', 'score': 550.77}, {'connected_gene': 'XRN1', 'score': 34.43}, {'connected_gene': 'PBX2P1', 'score': 27.86}, {'connected_gene': 'ATR', 'score': 18.15}, {'connected_gene': 'ST13P15', 'score': 11.78}, {'connected_gene': 'PAQR9-AS1', 'score': 11.44}, {'connected_gene': 'PAQR9', 'score': 11.44}, {'connected_gene': 'TFDP2', 'score': 11.04}, {'connected_gene': 'LOC100507389', 'score': 10.84}, {'connected_gene': 'PLS1', 'score': 10.45}, {'connected_gene': 'RNA5SP143', 'score': 10.45}, {'connected_gene': 'GC03M142971', 'score': 0.28}]
chr3 GH03I142499 142499998 142502028 0.63 [{'connected_gene': 'RNU1-100P', 'score': 10.59}, {'connected_gene': 'RNA5SP143', 'score': 10.21}, {'connected_gene': 'PLS1', 'score': 10.2}, {'connected_gene': 'XRN1', 'score': 8.63}, {'connected_gene': 'GC03M142460', 'score': 0.31}, {'connected_gene': 'SUCLG2P1', 'score': 0.29}, {'connected_gene': 'ATR', 'score': 0.18}]
chr3 GH03I142508 142508508 142509487 0.51 [{'connected_gene': 'RNU1-100P', 'score': 10.94}, {'connected_gene': 'RNA5SP143', 'score': 10.32}, {'connected_gene': 'PLS1', 'score': 10.31}, {'connected_gene': 'ATR', 'score': 7.71}, {'connected_gene': 'SUCLG2P1', 'score': 0.34}, {'connected_gene': 'GC03M142460', 'score': 0.28}]
chr3 GH03I142994 142994079 142994248 0.78 [{'connected_gene': 'PAQR9-AS1', 'score': 11.45}, {'connected_gene': 'PAQR9', 'score': 11.45}, {'connected_gene': 'LOC100507389', 'score': 10.86}, {'connected_gene': 'PLS1', 'score': 10.45}, {'connected_gene': 'RNA5SP143', 'score': 10.45}, {'connected_gene': 'LOC100289361', 'score': 0.44}, {'connected_gene': 'U2SURP', 'score': 0.31}, {'connected_gene': 'GC03M142971', 'score': 0.26}]
chr3 GH03I142656 142656844 142656903 0.68 [{'connected_gene': 'PLS1-AS1', 'score': 550.77}, {'connected_gene': 'LOC105374136', 'score': 550.77}, {'connected_gene': 'PLS1', 'score': 550.21}]
chr3 GH03I142613 142613187 142615003 0.43 [{'connected_gene': 'RNA5SP143', 'score': 12.38}, {'connected_gene': 'ATR', 'score': 6.84}, {'connected_gene': 'PLS1', 'score': 5.63}, {'connected_gene': 'PLS1-AS1', 'score': 0.26}, {'connected_gene': 'LOC105374136', 'score': 0.26}]
chr3 GH03I142987 142987800 142988001 0.49 [{'connected_gene': 'LOC100507389', 'score': 11.62}, {'connected_gene': 'PAQR9', 'score': 11.56}, {'connected_gene': 'PAQR9-AS1', 'score': 11.53}, {'connected_gene': 'PLS1', 'score': 10.72}, {'connected_gene': 'RNA5SP143', 'score': 10.72}, {'connected_gene': 'LOC100289361', 'score': 0.39}, {'connected_gene': 'U2SURP', 'score': 0.34}, {'connected_gene': 'GC03M142971', 'score': 0.25}]
chr3 GH03I142988 142987001 142987200 0.65 [{'connected_gene': 'LOC100507389', 'score': 11.62}, {'connected_gene': 'PAQR9', 'score': 11.56}, {'connected_gene': 'PAQR9-AS1', 'score': 11.53}, {'connected_gene': 'PLS1', 'score': 10.72}, {'connected_gene': 'RNA5SP143', 'score': 10.72}, {'connected_gene': 'LOC100289361', 'score': 0.39}, {'connected_gene': 'U2SURP', 'score': 0.34}, {'connected_gene': 'GC03M142971', 'score': 0.25}]
chr3 GH03I142808 142808239 142808388 0.72 [{'connected_gene': 'LOC100507389', 'score': 10.64}, {'connected_gene': 'PCOLCE2', 'score': 10.56}, {'connected_gene': 'RNA5SP143', 'score': 10.27}, {'connected_gene': 'PLS1', 'score': 10.26}, {'connected_gene': 'GC03P142802', 'score': 0.44}, {'connected_gene': 'RPL8P3', 'score': 0.37}]
chr3 GH03I142875 142875997 142881382 0.56 [{'connected_gene': 'LOC100507389', 'score': 11.05}, {'connected_gene': 'PAQR9-AS1', 'score': 10.88}, {'connected_gene': 'PAQR9', 'score': 10.88}, {'connected_gene': 'RNA5SP143', 'score': 9.43}, {'connected_gene': 'PLS1', 'score': 9.43}, {'connected_gene': 'SLC9A9', 'score': 5.46}, {'connected_gene': 'PCOLCE2', 'score': 0.39}, {'connected_gene': 'RPL8P3', 'score': 0.23}]