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
ENST00000444118 [[94463615, 94463639], [94464344, 94464581], [94465682, 94465806], [94465928, 94466011], [94467176, 94467276], [94467490, 94468068], [94469568, 94469700], [94471200, 94471317], [94473356, 94473898]] None
ENST00000455802 [[94463619, 94463639], [94464460, 94464581], [94465682, 94465806], [94465928, 94466011], [94467490, 94467569]] None
ENST00000359253 [[94463641, 94463917], [94464344, 94464581], [94465928, 94466011], [94467490, 94467665], [94469568, 94469700], [94471200, 94471317], [94474954, 94475209]] None
ENST00000314629 [[94463641, 94463917], [94464344, 94464581], [94465928, 94466011], [94467490, 94467665], [94469568, 94469700], [94471200, 94471317], [94474838, 94474929], [94477216, 94477439], [94477556, 94477870], [94477967, 94478040]] None
ENST00000422540 [[94463641, 94463917], [94464344, 94464581], [94465928, 94466011], [94467490, 94467669], [94468109, 94468255], [94469568, 94469700], [94471200, 94471317], [94474838, 94474929], [94477216, 94477439], [94477556, 94477870], [94477967, 94478040]] None
ENST00000449472 [[94463685, 94463917], [94464460, 94464581], [94465682, 94465806]] None
Promoter
Chrom Start End Description
chr14 94463642 94463653 CAGE_peak_1_at_LINC00521_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I094025 94025946 94030084 2.01 [{'connected_gene': 'OTUB2', 'score': 556.39}, {'connected_gene': 'BTBD7', 'score': 28.2}, {'connected_gene': 'DDX24', 'score': 17.16}, {'connected_gene': 'CCDC197', 'score': 16.1}, {'connected_gene': 'ASB2', 'score': 15.3}, {'connected_gene': 'IFI27L2', 'score': 10.8}, {'connected_gene': 'IFI27L1', 'score': 10.54}, {'connected_gene': 'IFI27', 'score': 10.32}, {'connected_gene': 'GC14M094051', 'score': 0.34}, {'connected_gene': 'GC14M094050', 'score': 0.34}]
chr14 GH14I093953 93953415 93966585 1.76 [{'connected_gene': 'BTBD7', 'score': 73.1}, {'connected_gene': 'SERPINA1', 'score': 13.48}, {'connected_gene': 'CCDC197', 'score': 12.01}, {'connected_gene': 'DDX24', 'score': 11.2}, {'connected_gene': 'UBR7', 'score': 10.15}, {'connected_gene': 'IFI27L2', 'score': 9.95}, {'connected_gene': 'IFI27', 'score': 9.56}, {'connected_gene': 'RPSAP4', 'score': 7.13}, {'connected_gene': 'FAM181A-AS1', 'score': 4.86}, {'connected_gene': 'ASB2', 'score': 4.19}, {'connected_gene': 'MIR4506', 'score': 0.39}]
chr14 GH14I093906 93906835 93906984 0.69 [{'connected_gene': 'ASB2', 'score': 10.7}, {'connected_gene': 'CCDC197', 'score': 10.67}, {'connected_gene': 'FAM181A', 'score': 0.39}, {'connected_gene': 'ENSG00000279593', 'score': 0.39}, {'connected_gene': 'FAM181A-AS1', 'score': 0.34}]
chr14 GH14I093903 93903615 93903784 0.6 [{'connected_gene': 'ASB2', 'score': 10.69}, {'connected_gene': 'CCDC197', 'score': 10.67}, {'connected_gene': 'ENSG00000279593', 'score': 0.44}, {'connected_gene': 'FAM181A', 'score': 0.37}]
chr14 GH14I093902 93902567 93903109 0.79 [{'connected_gene': 'ASB2', 'score': 10.69}, {'connected_gene': 'CCDC197', 'score': 10.67}, {'connected_gene': 'ENSG00000279593', 'score': 0.44}, {'connected_gene': 'FAM181A', 'score': 0.37}]
chr14 GH14I093951 93951067 93952942 0.46 [{'connected_gene': 'ASB2', 'score': 12.03}, {'connected_gene': 'CCDC197', 'score': 11.97}, {'connected_gene': 'FAM181A-AS1', 'score': 7.41}, {'connected_gene': 'MIR4506', 'score': 0.77}]
chr14 GH14I093980 93980193 93983205 1.05 [{'connected_gene': 'ASB2', 'score': 0.77}, {'connected_gene': 'CCDC197', 'score': 0.44}]
chr14 GH14I093927 93927295 93927354 0.76 [{'connected_gene': 'FAM181A-AS1', 'score': 550.77}, {'connected_gene': 'FAM181A', 'score': 550.44}, {'connected_gene': 'ASB2', 'score': 11.43}, {'connected_gene': 'CCDC197', 'score': 11.4}, {'connected_gene': 'ENSG00000258987', 'score': 0.39}]
chr14 GH14I093987 93987975 93988101 0.58 [{'connected_gene': 'CCDC197', 'score': 550.77}, {'connected_gene': 'OTUB2', 'score': 0.31}]
chr14 GH14I093994 93994554 93995754 1.05 [{'connected_gene': 'CCDC197', 'score': 8.03}, {'connected_gene': 'OTUB2', 'score': 0.34}]
chr14 GH14I094001 94001795 94002044 1.03 [{'connected_gene': 'CCDC197', 'score': 6.42}, {'connected_gene': 'OTUB2', 'score': 0.39}]
chr14 GH14I093986 93986824 93987877 0.58 [{'connected_gene': 'CCDC197', 'score': 556.72}, {'connected_gene': 'OTUB2', 'score': 0.31}]
chr14 GH14I093989 93989624 93990616 0.84 [{'connected_gene': 'CCDC197', 'score': 0.77}, {'connected_gene': 'OTUB2', 'score': 0.31}]
chr14 GH14I093983 93983605 93985953 1.25 [{'connected_gene': 'CCDC197', 'score': 0.77}, {'connected_gene': 'ASB2', 'score': 0.44}]
chr14 GH14I094011 94011915 94012124 0.67 [{'connected_gene': 'IFI27L1', 'score': 5.33}, {'connected_gene': 'OTUB2', 'score': 0.77}, {'connected_gene': 'CCDC197', 'score': 0.34}]
chr14 GH14I094120 94120650 94121954 0.38 [{'connected_gene': 'IFI27L1', 'score': 24.65}, {'connected_gene': 'BTBD7', 'score': 15.68}, {'connected_gene': 'DDX24', 'score': 10.54}, {'connected_gene': 'CCDC197', 'score': 10.37}, {'connected_gene': 'ASB2', 'score': 10.37}, {'connected_gene': 'SERPINA9', 'score': 9.01}, {'connected_gene': 'ENSG00000256357', 'score': 8.7}, {'connected_gene': 'IFI27L2', 'score': 5.97}, {'connected_gene': 'IFI27', 'score': 0.37}]
chr14 GH14I094020 94020847 94023531 0.96 [{'connected_gene': 'IFI27L1', 'score': 15.19}, {'connected_gene': 'CCDC197', 'score': 11.24}, {'connected_gene': 'ASB2', 'score': 11.2}, {'connected_gene': 'DDX24', 'score': 10.37}, {'connected_gene': 'SERPINA2', 'score': 5.06}, {'connected_gene': 'OTUB2', 'score': 0.44}, {'connected_gene': 'GC14M094051', 'score': 0.31}, {'connected_gene': 'GC14M094050', 'score': 0.31}]