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
ENST00000479862 [[68334359, 68334926], [68396002, 68396093], [68396913, 68397024], [68419021, 68419123], [68421751, 68421853], [68423775, 68423890], [68536410, 68536486], [68658248, 68658578]] [[68423803, 68423890], [68536410, 68536486], [68658248, 68658364]]
ENST00000297769 [[68334404, 68334926], [68396002, 68396093], [68396913, 68397024], [68419021, 68419123], [68421751, 68421853], [68423775, 68423890], [68430157, 68430282], [68536410, 68536486], [68658248, 68658620]] [[68334738, 68334926], [68396002, 68396093], [68396913, 68397024], [68419021, 68419123], [68421751, 68421841]]
ENST00000297770 [[68334407, 68334926], [68340281, 68340366], [68346272, 68346475], [68396002, 68396093], [68396913, 68397024], [68419021, 68419123], [68421751, 68421853], [68423775, 68423890], [68430157, 68430282], [68536410, 68536486], [68658248, 68658580]] [[68334738, 68334926], [68340281, 68340366], [68346272, 68346475], [68396002, 68396093], [68396913, 68397024], [68419021, 68419123], [68421751, 68421853], [68423775, 68423890], [68430157, 68430282], [68536410, 68536486], [68658248, 68658364]]
ENST00000518549 [[68395516, 68396093], [68396913, 68397024], [68419021, 68419123], [68421751, 68421853], [68423775, 68423890], [68430157, 68430282], [68536410, 68536486], [68658248, 68658578]] [[68395892, 68396093], [68396913, 68397024], [68419021, 68419123], [68421751, 68421853], [68423775, 68423890], [68430157, 68430282], [68536410, 68536486], [68658248, 68658364]]
NM_020361 [[68334404, 68334926], [68340281, 68340366], [68346272, 68346475], [68396002, 68396093], [68396913, 68397024], [68419021, 68419123], [68421751, 68421853], [68423775, 68423890], [68430157, 68430282], [68536410, 68536486], [68658248, 68658620]] [[68334738, 68334926], [68340281, 68340366], [68346272, 68346475], [68396002, 68396093], [68396913, 68397024], [68419021, 68419123], [68421751, 68421853], [68423775, 68423890], [68430157, 68430282], [68536410, 68536486], [68658248, 68658364]]
Promoter
Chrom Start End Description
chr8 68658362 68658375 CAGE_peak_2_at_CPA6_5end
chr8 68658484 68658491 CAGE_peak_3_at_CPA6_5end
chr8 68658582 68658647 CAGE_peak_1_at_CPA6_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I067748 67748327 67748452 0.28 [{'connected_gene': 'CPA6', 'score': 550.77}, {'connected_gene': 'NDUFS5P6', 'score': 0.15}]
chr8 GH08I067751 67751386 67751535 0.38 [{'connected_gene': 'CPA6', 'score': 0.77}, {'connected_gene': 'NDUFS5P6', 'score': 0.15}]
chr8 GH08I067795 67795106 67795215 0.46 [{'connected_gene': 'CPA6', 'score': 11.23}, {'connected_gene': 'NDUFS5P6', 'score': 0.23}]
chr8 GH08I067503 67503897 67507021 1.24 [{'connected_gene': 'CPA6', 'score': 10.23}, {'connected_gene': 'LOC105375886', 'score': 0.23}, {'connected_gene': 'RPL17P31', 'score': 0.15}]
chr8 GH08I067718 67718852 67722811 0.49 [{'connected_gene': 'CPA6', 'score': 11.63}, {'connected_gene': 'ENSG00000255130', 'score': 0.39}, {'connected_gene': 'PIR45809', 'score': 0.12}]
chr8 GH08I067740 67740946 67741095 0.31 [{'connected_gene': 'CPA6', 'score': 0.44}, {'connected_gene': 'ENSG00000255130', 'score': 0.44}]
chr8 GH08I067745 67745801 67746934 1.24 [{'connected_gene': 'CPA6', 'score': 550.77}, {'connected_gene': 'ENSG00000255130', 'score': 0.39}]
chr8 GH08I067737 67737626 67737755 0.73 [{'connected_gene': 'CPA6', 'score': 5.53}, {'connected_gene': 'ENSG00000255130', 'score': 0.44}]
chr8 GH08I067521 67521790 67523140 0.31 [{'connected_gene': 'LOC105375886', 'score': 0.29}, {'connected_gene': 'RPL17P31', 'score': 0.13}, {'connected_gene': 'CPA6', 'score': 0.07}]
chr8 GH08I067490 67490001 67490612 0.83 [{'connected_gene': 'LOC105375886', 'score': 0.2}, {'connected_gene': 'RPL17P31', 'score': 0.18}, {'connected_gene': 'CPA6', 'score': 0.07}]
chr8 GH08I067512 67512114 67513155 0.31 [{'connected_gene': 'LOC105375886', 'score': 0.26}, {'connected_gene': 'RPL17P31', 'score': 0.14}, {'connected_gene': 'CPA6', 'score': 0.07}]
chr8 GH08I067462 67462027 67463705 0.66 [{'connected_gene': 'RPL17P31', 'score': 0.22}, {'connected_gene': 'LOC105375886', 'score': 0.16}, {'connected_gene': 'CPA6', 'score': 0.06}]
chr8 GH08I067726 67726566 67728404 0.2 [{'connected_gene': 'ENSG00000255130', 'score': 0.44}, {'connected_gene': 'CPA6', 'score': 0.37}, {'connected_gene': 'PIR45809', 'score': 0.11}]
chr8 GH08I067692 67692306 67694078 0.82 [{'connected_gene': 'ENSG00000255130', 'score': 11.15}, {'connected_gene': 'CPA6', 'score': 11.07}, {'connected_gene': 'PIR45809', 'score': 0.14}]
chr8 GH08I067712 67712366 67712515 0.54 [{'connected_gene': 'ENSG00000255130', 'score': 0.34}, {'connected_gene': 'CPA6', 'score': 0.29}, {'connected_gene': 'PIR45809', 'score': 0.13}]
chr8 GH08I067730 67730506 67730675 0.31 [{'connected_gene': 'ENSG00000255130', 'score': 550.77}, {'connected_gene': 'CPA6', 'score': 0.37}, {'connected_gene': 'PIR45809', 'score': 0.11}]
chr8 GH08I067717 67717246 67717400 0.2 [{'connected_gene': 'ENSG00000255130', 'score': 0.37}, {'connected_gene': 'CPA6', 'score': 0.31}, {'connected_gene': 'PIR45809', 'score': 0.12}]
chr8 GH08I067602 67602189 67603382 1.2 [{'connected_gene': 'PIR45809', 'score': 0.37}, {'connected_gene': 'LOC105375886', 'score': 0.25}, {'connected_gene': 'ENSG00000255130', 'score': 0.13}, {'connected_gene': 'CPA6', 'score': 0.11}]
chr8 GH08I067587 67587334 67587569 0.33 [{'connected_gene': 'GC08M067585', 'score': 550.77}, {'connected_gene': 'PIR45809', 'score': 550.77}, {'connected_gene': 'LOC105375886', 'score': 0.29}, {'connected_gene': 'ENSG00000255130', 'score': 0.11}, {'connected_gene': 'CPA6', 'score': 0.1}]
chr8 GH08I067579 67579493 67580435 0.69 [{'connected_gene': 'GC08M067585', 'score': 0.44}, {'connected_gene': 'ENSG00000254253', 'score': 0.39}, {'connected_gene': 'LOC105375886', 'score': 0.34}, {'connected_gene': 'CPA6', 'score': 0.1}]