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
ENST00000518676 [[16830786, 16831104], [16832205, 16832428], [16835176, 16835274], [16842002, 16842089], [16847444, 16847561], [16855231, 16855958], [16859949, 16861222], [16870035, 16870239], [16872789, 16872949], [16874638, 16874756], [16875844, 16876003], [16883936, 16884134], [16890153, 16890276], [16899792, 16900001], [16902160, 16902433], [16905273, 16905364], [16908542, 16908697], [16910696, 16910973], [16918396, 16918947], [16923555, 16923661], [16925838, 16928764]] [[16842008, 16842089], [16847444, 16847561], [16855231, 16855573]]
ENST00000524140 [[16830790, 16831104], [16835176, 16835274], [16842002, 16842089], [16847444, 16847561], [16855231, 16855529], [16859949, 16861222], [16870035, 16870239], [16872789, 16872949], [16874638, 16874756], [16875844, 16876003], [16883936, 16884134], [16890153, 16890276], [16899792, 16900001], [16902160, 16902433], [16905273, 16905364], [16908542, 16908697], [16910696, 16910973], [16918396, 16918947], [16925838, 16928774]] [[16842008, 16842089], [16847444, 16847561], [16855231, 16855529], [16859949, 16861222], [16870035, 16870239], [16872789, 16872949], [16874638, 16874756], [16875844, 16876003], [16883936, 16884134], [16890153, 16890276], [16899792, 16900001], [16902160, 16902433], [16905273, 16905364], [16908542, 16908697], [16910696, 16910973], [16918396, 16918947], [16925838, 16925850]]
ENST00000549814 [[16830859, 16831104], [16842002, 16842089], [16847444, 16847561], [16855231, 16855529], [16859949, 16861222], [16870035, 16870239], [16872789, 16872949], [16874638, 16874756], [16875844, 16876003], [16883936, 16884134], [16890153, 16890276], [16899792, 16900001], [16902160, 16902433], [16905273, 16905364], [16908542, 16908697], [16910822, 16910973], [16918396, 16918947], [16923555, 16923661], [16925838, 16927934]] [[16842008, 16842089], [16847444, 16847561], [16855231, 16855529], [16859949, 16861222], [16870035, 16870239], [16872789, 16872949], [16874638, 16874756], [16875844, 16876003], [16883936, 16884134], [16890153, 16890276], [16899792, 16900001], [16902160, 16902433], [16905273, 16905364], [16908542, 16908697], [16910822, 16910973], [16918396, 16918947], [16923555, 16923661], [16925838, 16926140]]
ENST00000379808 [[16842005, 16842089], [16847444, 16847561], [16855231, 16855529], [16859949, 16861222], [16870035, 16870239], [16872789, 16872949], [16874638, 16874756], [16875844, 16876003], [16883936, 16884134], [16890153, 16890276], [16899792, 16900001], [16902160, 16902433], [16905273, 16905364], [16908542, 16908697], [16910696, 16910973], [16918396, 16918947], [16925838, 16927537]] [[16842008, 16842089], [16847444, 16847561], [16855231, 16855529], [16859949, 16861222], [16870035, 16870239], [16872789, 16872949], [16874638, 16874756], [16875844, 16876003], [16883936, 16884134], [16890153, 16890276], [16899792, 16900001], [16902160, 16902433], [16905273, 16905364], [16908542, 16908697], [16910696, 16910973], [16918396, 16918947], [16925838, 16925850]]
ENST00000523826 [[16842005, 16842089], [16847444, 16847561], [16849036, 16849103], [16855231, 16855529], [16859949, 16861222], [16870035, 16870239], [16872789, 16872949], [16874638, 16874756], [16875844, 16876003], [16883936, 16884134], [16890153, 16890276], [16899792, 16900001], [16902160, 16902433], [16905273, 16905364], [16908542, 16908697], [16910696, 16910973], [16918396, 16918947], [16923555, 16923661], [16925838, 16927537]] [[16860071, 16861222], [16870035, 16870239], [16872789, 16872949], [16874638, 16874756], [16875844, 16876003], [16883936, 16884134], [16890153, 16890276], [16899792, 16900001], [16902160, 16902433], [16905273, 16905364], [16908542, 16908697], [16910696, 16910973], [16918396, 16918947], [16923555, 16923661], [16925838, 16926140]]
ENST00000438489 [[16842005, 16842089], [16847444, 16847561], [16849036, 16849103], [16855231, 16855529], [16859949, 16861222], [16870035, 16870239], [16872789, 16872949], [16874638, 16874756], [16875844, 16876003], [16883936, 16884134], [16890153, 16890276], [16899792, 16900001], [16902160, 16902433], [16905273, 16905364], [16908542, 16908697], [16910696, 16910973], [16918396, 16918947], [16923555, 16923661], [16925838, 16927537]] [[16842008, 16842089], [16847444, 16847561], [16849036, 16849069]]
ENST00000552788 [[16842008, 16842089], [16847444, 16847561], [16855231, 16855529], [16859949, 16861222], [16870035, 16870239], [16872789, 16872949], [16874638, 16874756], [16875844, 16876003], [16883936, 16884134], [16890153, 16890276], [16899792, 16900001], [16902160, 16902433], [16905273, 16905364], [16908542, 16908697], [16910696, 16910973], [16918396, 16918947], [16923555, 16923661], [16925838, 16928409]] [[16842008, 16842089], [16847444, 16847561], [16855231, 16855529], [16859949, 16861222], [16870035, 16870239], [16872789, 16872949], [16874638, 16874756], [16875844, 16876003], [16883936, 16884134], [16890153, 16890276], [16899792, 16900001], [16902160, 16902433], [16905273, 16905364], [16908542, 16908697], [16910696, 16910973], [16918396, 16918947], [16923555, 16923661], [16925838, 16926140]]
ENST00000339803 [[16855867, 16855958], [16859949, 16861222], [16870035, 16870239], [16872789, 16872949], [16874638, 16874756], [16875844, 16876003], [16883936, 16884134], [16890153, 16890276], [16899792, 16900001], [16902160, 16902433], [16905273, 16905364], [16908542, 16908697], [16910696, 16910973], [16918396, 16918947], [16923555, 16923661], [16925838, 16927537]] [[16855867, 16855958], [16859949, 16861222], [16870035, 16870239], [16872789, 16872949], [16874638, 16874756], [16875844, 16876003], [16883936, 16884134], [16890153, 16890276], [16899792, 16900001], [16902160, 16902433], [16905273, 16905364], [16908542, 16908697], [16910696, 16910973], [16918396, 16918947], [16923555, 16923661], [16925838, 16926140]]
NM_001007525 [[16830786, 16831104], [16835176, 16835274], [16842002, 16842089], [16847444, 16847561], [16855231, 16855529], [16859949, 16861222], [16870035, 16870239], [16872789, 16872949], [16874638, 16874756], [16875844, 16876003], [16883936, 16884134], [16890153, 16890276], [16899792, 16900001], [16902160, 16902433], [16905273, 16905364], [16908542, 16908697], [16910696, 16910973], [16918396, 16918947], [16925838, 16928774]] [[16842008, 16842089], [16847444, 16847561], [16855231, 16855529], [16859949, 16861222], [16870035, 16870239], [16872789, 16872949], [16874638, 16874756], [16875844, 16876003], [16883936, 16884134], [16890153, 16890276], [16899792, 16900001], [16902160, 16902433], [16905273, 16905364], [16908542, 16908697], [16910696, 16910973], [16918396, 16918947], [16925838, 16925850]]
NM_001290355 [[16830786, 16831104], [16832205, 16832428], [16835176, 16835274], [16842002, 16842089], [16847444, 16847561], [16855231, 16855958], [16859949, 16861222], [16870035, 16870239], [16872789, 16872949], [16874638, 16874756], [16875844, 16876003], [16883936, 16884134], [16890153, 16890276], [16899792, 16900001], [16902160, 16902433], [16905273, 16905364], [16908542, 16908697], [16910696, 16910973], [16918396, 16918947], [16923555, 16923661], [16925838, 16928774]] [[16855867, 16855958], [16859949, 16861222], [16870035, 16870239], [16872789, 16872949], [16874638, 16874756], [16875844, 16876003], [16883936, 16884134], [16890153, 16890276], [16899792, 16900001], [16902160, 16902433], [16905273, 16905364], [16908542, 16908697], [16910696, 16910973], [16918396, 16918947], [16923555, 16923661], [16925838, 16926140]]
NM_001347994 [[16842002, 16842089], [16847444, 16847561], [16849036, 16849103], [16855231, 16855529], [16859949, 16861222], [16870035, 16870239], [16872789, 16872949], [16874638, 16874756], [16875844, 16876003], [16883936, 16884134], [16890153, 16890276], [16899792, 16900001], [16902160, 16902433], [16905273, 16905364], [16908542, 16908697], [16910696, 16910973], [16918396, 16918947], [16923555, 16923661], [16925838, 16928774]] [[16860071, 16861222], [16870035, 16870239], [16872789, 16872949], [16874638, 16874756], [16875844, 16876003], [16883936, 16884134], [16890153, 16890276], [16899792, 16900001], [16902160, 16902433], [16905273, 16905364], [16908542, 16908697], [16910696, 16910973], [16918396, 16918947], [16923555, 16923661], [16925838, 16926140]]
Promoter
Chrom Start End Description
chr19 16830652 16830663 CAGE_peak_3_at_NWD1_5end
chr19 16830713 16830741 CAGE_peak_4_at_NWD1_5end
chr19 16830774 16830814 CAGE_peak_1_at_NWD1_5end
chr19 16830815 16830831 CAGE_peak_2_at_NWD1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I016717 16717674 16720644 1.48 [{'connected_gene': 'NWD1', 'score': 566.01}, {'connected_gene': 'GC19M016713', 'score': 0.44}]
chr19 GH19I016771 16771650 16771819 0.74 [{'connected_gene': 'CPAMD8', 'score': 11.19}, {'connected_gene': 'GC19M016767', 'score': 0.39}, {'connected_gene': 'NWD1', 'score': 0.23}]
chr19 GH19I016733 16733367 16735112 0.89 [{'connected_gene': 'SIN3B', 'score': 12.18}, {'connected_gene': 'CPAMD8', 'score': 11.39}, {'connected_gene': 'NWD1', 'score': 10.29}, {'connected_gene': 'GC19M016767', 'score': 0.25}]
chr19 GH19I016253 16253350 16254235 1.4 [{'connected_gene': 'CHERP', 'score': 22.79}, {'connected_gene': 'ENSG00000269578', 'score': 22.1}, {'connected_gene': 'AKAP8', 'score': 15.07}, {'connected_gene': 'C19orf44', 'score': 13.95}, {'connected_gene': 'SIN3B', 'score': 13.52}, {'connected_gene': 'AP1M1', 'score': 13.19}, {'connected_gene': 'ENSG00000268743', 'score': 12.44}, {'connected_gene': 'BRD4', 'score': 12.08}, {'connected_gene': 'ENSG00000268189', 'score': 11.24}, {'connected_gene': 'AKAP8L', 'score': 10.98}, {'connected_gene': 'HAUS8', 'score': 10.56}, {'connected_gene': 'NWD1', 'score': 1.67}, {'connected_gene': 'GC19M016240', 'score': 0.39}, {'connected_gene': 'PIR54763', 'score': 0.26}, {'connected_gene': 'GC19M016221', 'score': 0.05}]
chr19 GH19I016341 16341197 16343832 1.41 [{'connected_gene': 'KLF2', 'score': 6.54}, {'connected_gene': 'C19orf44', 'score': 5.09}, {'connected_gene': 'MED26', 'score': 4.05}, {'connected_gene': 'NWD1', 'score': 1.93}, {'connected_gene': 'ENSG00000277825', 'score': 0.39}, {'connected_gene': 'GC19M016221', 'score': 0.07}]
chr19 GH19I016282 16282098 16287510 1.43 [{'connected_gene': 'AKAP8', 'score': 17.1}, {'connected_gene': 'KLF2', 'score': 14.85}, {'connected_gene': 'TPM4', 'score': 13.98}, {'connected_gene': 'HAUS8', 'score': 11.52}, {'connected_gene': 'BRD4', 'score': 11.34}, {'connected_gene': 'LINC01835', 'score': 11.18}, {'connected_gene': 'CHERP', 'score': 10.68}, {'connected_gene': 'ENSG00000269578', 'score': 9.9}, {'connected_gene': 'NWD1', 'score': 1.34}, {'connected_gene': 'PIR54763', 'score': 0.44}, {'connected_gene': 'ENSG00000267275', 'score': 0.28}, {'connected_gene': 'GC19M016240', 'score': 0.26}, {'connected_gene': 'GC19M016221', 'score': 0.06}]
chr19 GH19I016778 16778930 16779079 0.67 [{'connected_gene': 'GC19M016767', 'score': 0.44}, {'connected_gene': 'NWD1', 'score': 0.22}]
chr19 GH19I016714 16714810 16714999 0.62 [{'connected_gene': 'GC19M016713', 'score': 550.77}, {'connected_gene': 'NWD1', 'score': 0.77}]
chr19 GH19I016764 16764607 16765811 0.46 [{'connected_gene': 'ENSG00000269578', 'score': 5.22}, {'connected_gene': 'GC19M016767', 'score': 0.37}, {'connected_gene': 'NWD1', 'score': 0.25}]
chr19 GH19I016788 16788530 16788679 0.46 [{'connected_gene': 'GC19M016767', 'score': 0.77}, {'connected_gene': 'GC19P020239', 'score': 0.39}, {'connected_gene': 'NWD1', 'score': 0.2}]
chr19 GH19I016715 16715104 16715201 0.46 [{'connected_gene': 'GC19M016713', 'score': 550.77}, {'connected_gene': 'NWD1', 'score': 0.77}]
chr19 GH19I016801 16801401 16802201 0.99 [{'connected_gene': 'ENSG00000269799', 'score': 550.77}, {'connected_gene': 'ENSG00000269350', 'score': 4.78}, {'connected_gene': 'GC19P020282', 'score': 0.77}, {'connected_gene': 'GC19P020239', 'score': 0.77}, {'connected_gene': 'SIN3B', 'score': 0.31}, {'connected_gene': 'NWD1', 'score': 0.18}]