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
ENST00000600059 [[48988527, 48989046], [48994364, 48994502], [48994660, 48994796], [48996950, 48997366], [49000649, 49003174], [49004252, 49004402], [49004539, 49004661], [49004734, 49004819], [49005689, 49005838], [49006165, 49006253], [49012107, 49012226], [49012693, 49012770], [49013279, 49013430], [49013715, 49013849], [49014757, 49015061]] [[48989029, 48989046], [48994364, 48994502], [48994660, 48994796], [48996950, 48997366], [49000649, 49003174], [49004252, 49004402], [49004539, 49004661], [49004734, 49004819], [49005689, 49005838], [49006165, 49006253], [49012107, 49012226], [49012693, 49012770], [49013279, 49013430], [49013715, 49013849], [49014757, 49014833]]
ENST00000270238 [[48988527, 48989046], [48994364, 48994502], [48994660, 48994796], [48996950, 48997366], [49000649, 49003174], [49004252, 49004402], [49004539, 49004661], [49004734, 49004819], [49005689, 49005838], [49006165, 49006253], [49012107, 49012226], [49012693, 49012770], [49013279, 49013430], [49013715, 49013849], [49014757, 49014870], [49016396, 49016446]] [[48989029, 48989046], [48994364, 48994502], [48994660, 48994796], [48996950, 48997366], [49000649, 49003174], [49004252, 49004402], [49004539, 49004661], [49004734, 49004819], [49005689, 49005838], [49006165, 49006253], [49012107, 49012226], [49012693, 49012770], [49013279, 49013430], [49013715, 49013849], [49014757, 49014870], [49016396, 49016446]]
NM_001080434 [[48988527, 48989046], [48994364, 48994502], [48994660, 48994796], [48996950, 48997366], [49000649, 49003174], [49004252, 49004402], [49004539, 49004661], [49004734, 49004819], [49005689, 49005838], [49006165, 49006253], [49012107, 49012226], [49012693, 49012770], [49013279, 49013430], [49013715, 49013849], [49014757, 49014870], [49016396, 49016446]] [[48989029, 48989046], [48994364, 48994502], [48994660, 48994796], [48996950, 48997366], [49000649, 49003174], [49004252, 49004402], [49004539, 49004661], [49004734, 49004819], [49005689, 49005838], [49006165, 49006253], [49012107, 49012226], [49012693, 49012770], [49013279, 49013430], [49013715, 49013849], [49014757, 49014870], [49016396, 49016446]]
Promoter
Chrom Start End Description
chr19 49016319 49016405 CAGE_peak_2_at_LMTK3_5end
chr19 49016418 49016432 CAGE_peak_3_at_LMTK3_5end
chr19 49016847 49016943 CAGE_peak_1_at_LMTK3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I048283 48283405 48285360 0.6 [{'connected_gene': 'CCDC114', 'score': 13.6}, {'connected_gene': 'TMEM143', 'score': 11.45}, {'connected_gene': 'SYNGR4', 'score': 11.45}, {'connected_gene': 'LMTK3', 'score': 10.9}, {'connected_gene': 'IZUMO1', 'score': 4.77}, {'connected_gene': 'GRIN2D', 'score': 4.73}, {'connected_gene': 'SPHK2', 'score': 4.58}, {'connected_gene': 'GC19P048288', 'score': 0.77}, {'connected_gene': 'ZNF114', 'score': 0.39}, {'connected_gene': 'LOC105372429', 'score': 0.39}]
chr19 GH19I048083 48083879 48083976 0.34 [{'connected_gene': 'PLA2G4C', 'score': 15.27}, {'connected_gene': 'ELSPBP1', 'score': 10.17}, {'connected_gene': 'BSPH1', 'score': 10.16}, {'connected_gene': 'LMTK3', 'score': 2.17}, {'connected_gene': 'PLA2G4C-AS1', 'score': 0.34}]
chr19 GH19I048486 48486824 48489212 1.28 [{'connected_gene': 'PLA2G4C', 'score': 5.35}, {'connected_gene': 'DKKL1', 'score': 4.56}, {'connected_gene': 'GC19P048479', 'score': 0.44}, {'connected_gene': 'LMTK3', 'score': 0.31}, {'connected_gene': 'ENSG00000269814', 'score': 0.31}]
chr19 GH19I047963 47963264 47963433 0.82 [{'connected_gene': 'PLA2G4C', 'score': 11.62}, {'connected_gene': 'BSPH1', 'score': 11.61}, {'connected_gene': 'ELSPBP1', 'score': 11.6}, {'connected_gene': 'CABP5', 'score': 11.11}, {'connected_gene': 'SULT2A1', 'score': 10.49}, {'connected_gene': 'LMTK3', 'score': 10.24}, {'connected_gene': 'SYNGR4', 'score': 10.13}, {'connected_gene': 'TMEM143', 'score': 10.13}, {'connected_gene': 'SNAR-C1', 'score': 0.44}, {'connected_gene': 'GC19M047959', 'score': 0.39}]
chr19 GH19I048540 48540093 48540716 0.74 [{'connected_gene': 'SULT2B1', 'score': 0.39}, {'connected_gene': 'LMTK3', 'score': 0.31}]
chr19 GH19I048549 48549564 48549693 0.57 [{'connected_gene': 'SULT2B1', 'score': 0.77}, {'connected_gene': 'LMTK3', 'score': 0.28}]
chr19 GH19I048539 48539800 48540001 0.94 [{'connected_gene': 'SNRNP70', 'score': 51.75}, {'connected_gene': 'SEC1P', 'score': 32.66}, {'connected_gene': 'BICRA', 'score': 27.81}, {'connected_gene': 'NOP53-AS1', 'score': 22.1}, {'connected_gene': 'BCAT2', 'score': 18.52}, {'connected_gene': 'CA11', 'score': 14.82}, {'connected_gene': 'RUVBL2', 'score': 14.82}, {'connected_gene': 'ENSG00000268093', 'score': 13.07}, {'connected_gene': 'ZSWIM9', 'score': 12.72}, {'connected_gene': 'DKKL1', 'score': 11.84}, {'connected_gene': 'GRWD1', 'score': 11.39}, {'connected_gene': 'RASIP1', 'score': 10.8}, {'connected_gene': 'TULP2', 'score': 10.76}, {'connected_gene': 'CYTH2', 'score': 10.51}, {'connected_gene': 'HSD17B14', 'score': 10.26}, {'connected_gene': 'SULT2B1', 'score': 0.39}, {'connected_gene': 'LMTK3', 'score': 0.31}]
chr19 GH19I048489 48489672 48494800 1.42 [{'connected_gene': 'SNRNP70', 'score': 52.86}, {'connected_gene': 'BICRA', 'score': 35.54}, {'connected_gene': 'GRWD1', 'score': 35.0}, {'connected_gene': 'PIH1D1', 'score': 28.8}, {'connected_gene': 'SNORD35A', 'score': 25.32}, {'connected_gene': 'NOP53', 'score': 25.19}, {'connected_gene': 'RPL13A', 'score': 25.09}, {'connected_gene': 'NOP53-AS1', 'score': 23.96}, {'connected_gene': 'RPL18', 'score': 23.56}, {'connected_gene': 'ALDH16A1', 'score': 23.1}, {'connected_gene': 'KDELR1', 'score': 23.07}, {'connected_gene': 'BCAT2', 'score': 19.35}, {'connected_gene': 'ENSG00000268093', 'score': 16.04}, {'connected_gene': 'ENSG00000268746', 'score': 12.24}, {'connected_gene': 'EHD2', 'score': 10.96}, {'connected_gene': 'RASIP1', 'score': 9.72}, {'connected_gene': 'CYTH2', 'score': 6.06}, {'connected_gene': 'GC19P048479', 'score': 0.39}, {'connected_gene': 'ENSG00000269814', 'score': 0.34}, {'connected_gene': 'LMTK3', 'score': 0.34}]
chr19 GH19I048462 48462404 48462593 0.7 [{'connected_gene': 'SNRNP70', 'score': 13.45}, {'connected_gene': 'ENSG00000268093', 'score': 13.34}, {'connected_gene': 'SYNGR4', 'score': 11.68}, {'connected_gene': 'TMEM143', 'score': 11.68}, {'connected_gene': 'LMTK3', 'score': 11.64}, {'connected_gene': 'NTN5', 'score': 11.63}, {'connected_gene': 'ENSG00000268465', 'score': 0.77}, {'connected_gene': 'KCNJ14', 'score': 0.44}]
chr19 GH19I048091 48091464 48091613 0.54 [{'connected_gene': 'CABP5', 'score': 11.59}, {'connected_gene': 'BSPH1', 'score': 10.94}, {'connected_gene': 'ELSPBP1', 'score': 10.94}, {'connected_gene': 'NAPA', 'score': 9.99}, {'connected_gene': 'SULT2A1', 'score': 9.84}, {'connected_gene': 'LMTK3', 'score': 9.36}, {'connected_gene': 'PLA2G4C', 'score': 0.37}, {'connected_gene': 'PLA2G4C-AS1', 'score': 0.29}]
chr19 GH19I048500 48500386 48502902 1.42 [{'connected_gene': 'SNORD35A', 'score': 48.64}, {'connected_gene': 'ALDH16A1', 'score': 47.61}, {'connected_gene': 'SNORD35B', 'score': 42.35}, {'connected_gene': 'NOP53-AS1', 'score': 41.01}, {'connected_gene': 'NOP53', 'score': 34.9}, {'connected_gene': 'KDELR1', 'score': 34.48}, {'connected_gene': 'GRWD1', 'score': 33.92}, {'connected_gene': 'BICRA', 'score': 32.17}, {'connected_gene': 'RPL13A', 'score': 31.69}, {'connected_gene': 'RPS11', 'score': 30.71}, {'connected_gene': 'PIH1D1', 'score': 18.74}, {'connected_gene': 'SNORD23', 'score': 17.8}, {'connected_gene': 'CYTH2', 'score': 16.17}, {'connected_gene': 'RPL18', 'score': 13.82}, {'connected_gene': 'ENSG00000268746', 'score': 13.12}, {'connected_gene': 'TEAD2', 'score': 12.15}, {'connected_gene': 'EHD2', 'score': 11.96}, {'connected_gene': 'ENSG00000268157', 'score': 11.56}, {'connected_gene': 'SNRNP70', 'score': 11.28}, {'connected_gene': 'BAX', 'score': 11.05}, {'connected_gene': 'BCAT2', 'score': 10.98}, {'connected_gene': 'CARD8', 'score': 10.93}, {'connected_gene': 'FLT3LG', 'score': 10.83}, {'connected_gene': 'GRIN2D', 'score': 5.45}, {'connected_gene': 'ENSG00000269814', 'score': 0.39}, {'connected_gene': 'LMTK3', 'score': 0.39}, {'connected_gene': 'GC19P048479', 'score': 0.34}]
chr19 GH19I048513 48513104 48513163 0.99 [{'connected_gene': 'LMTK3', 'score': 550.77}, {'connected_gene': 'ENSG00000269814', 'score': 550.77}, {'connected_gene': 'GC19P048479', 'score': 0.29}]
chr19 GH19I048506 48506304 48506413 0.76 [{'connected_gene': 'LMTK3', 'score': 0.44}, {'connected_gene': 'ENSG00000269814', 'score': 0.44}, {'connected_gene': 'GC19P048479', 'score': 0.31}]
chr19 GH19I048514 48513394 48514247 1.45 [{'connected_gene': 'LMTK3', 'score': 550.77}, {'connected_gene': 'ENSG00000269814', 'score': 550.77}]
chr19 GH19I048509 48509412 48512800 1.33 [{'connected_gene': 'NOP53-AS1', 'score': 20.72}, {'connected_gene': 'SNORD35A', 'score': 17.7}, {'connected_gene': 'BICRA', 'score': 17.58}, {'connected_gene': 'SNORD35B', 'score': 16.66}, {'connected_gene': 'ALDH16A1', 'score': 15.3}, {'connected_gene': 'GRWD1', 'score': 13.04}, {'connected_gene': 'DKKL1', 'score': 12.66}, {'connected_gene': 'NOP53', 'score': 12.45}, {'connected_gene': 'PIH1D1', 'score': 11.87}, {'connected_gene': 'KDELR1', 'score': 11.83}, {'connected_gene': 'SNRNP70', 'score': 11.38}, {'connected_gene': 'CYTH2', 'score': 10.92}, {'connected_gene': 'RPL18', 'score': 10.67}, {'connected_gene': 'RPS11', 'score': 10.59}, {'connected_gene': 'RPL13A', 'score': 10.32}, {'connected_gene': 'SNORD23', 'score': 9.68}, {'connected_gene': 'DHDH', 'score': 7.51}, {'connected_gene': 'NTF4', 'score': 4.23}, {'connected_gene': 'ENSG00000269814', 'score': 0.77}, {'connected_gene': 'LMTK3', 'score': 0.77}, {'connected_gene': 'GC19P048479', 'score': 0.29}]
chr19 GH19I048545 48545058 48545873 0.69 [{'connected_gene': 'ENSG00000269814', 'score': 5.87}, {'connected_gene': 'SULT2B1', 'score': 0.44}, {'connected_gene': 'LMTK3', 'score': 0.29}]
chr19 GH19I048543 48543082 48543800 1.21 [{'connected_gene': 'ENSG00000269814', 'score': 5.08}, {'connected_gene': 'SULT2B1', 'score': 0.44}, {'connected_gene': 'LMTK3', 'score': 0.31}]
chr19 GH19I048495 48495564 48495800 0.51 [{'connected_gene': 'GC19P048479', 'score': 0.37}, {'connected_gene': 'LMTK3', 'score': 0.37}, {'connected_gene': 'ENSG00000269814', 'score': 0.37}]
chr19 GH19I048497 48497051 48497917 0.73 [{'connected_gene': 'GC19P048479', 'score': 0.37}, {'connected_gene': 'LMTK3', 'score': 0.37}, {'connected_gene': 'ENSG00000269814', 'score': 0.37}]