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
ENST00000504030 [[113845602, 113846114], [113848492, 113848644], [113849954, 113849999], [113851924, 113852034], [113853841, 113854011], [113856736, 113856897], [113857239, 113857450], [113857546, 113857768], [113860186, 113861035]] [[113846047, 113846114], [113848492, 113848644], [113849954, 113849999], [113851924, 113852034], [113853841, 113854011], [113856736, 113856897], [113857239, 113857450], [113857546, 113857768], [113860186, 113860485]]
ENST00000375498 [[113845796, 113846114], [113848492, 113848644], [113849954, 113849999], [113851924, 113852034], [113853841, 113854011], [113856736, 113856897], [113857239, 113857450], [113857546, 113857768], [113860186, 113861032]] [[113846029, 113846114], [113848492, 113848644], [113849954, 113849999], [113851924, 113852034], [113853841, 113854011], [113856736, 113856897], [113857239, 113857450], [113857546, 113857768], [113860186, 113860485]]
ENST00000355556 [[113845796, 113846114], [113848492, 113848644], [113849954, 113849999], [113851924, 113852034], [113853841, 113854011], [113856736, 113856897], [113857239, 113857768], [113860186, 113861032]] [[113846029, 113846114], [113848492, 113848644], [113849954, 113849999], [113851924, 113852034], [113853841, 113854011], [113856736, 113856897], [113857239, 113857768], [113860186, 113860485]]
ENST00000506841 [[113845909, 113846114], [113848492, 113848644], [113849954, 113849999], [113851924, 113852034], [113853841, 113854011], [113856736, 113856897], [113857239, 113857768], [113860186, 113861035]] [[113846047, 113846114], [113848492, 113848644], [113849954, 113849999], [113851924, 113852034], [113853841, 113854011], [113856736, 113856897], [113857239, 113857768], [113860186, 113860485]]
ENST00000510849 [[113846007, 113846114], [113848492, 113848644], [113849954, 113849999], [113851924, 113852034], [113853841, 113854011], [113857239, 113857450], [113857546, 113857768], [113860186, 113860554]] [[113846047, 113846114], [113848492, 113848644], [113849954, 113849999], [113851924, 113852034], [113853841, 113854011], [113857239, 113857412]]
ENST00000535865 [[113846007, 113846114], [113848492, 113848644], [113849954, 113849999], [113851924, 113852034], [113853841, 113854011], [113857239, 113857450], [113857546, 113857768], [113860186, 113860554]] [[113857302, 113857450], [113857546, 113857768], [113860186, 113860485]]
ENST00000299961 [[113848221, 113848298], [113848492, 113848644], [113849954, 113849999], [113851924, 113852034], [113853841, 113854011], [113856736, 113856897], [113857239, 113857450], [113857546, 113857768], [113860186, 113861032]] [[113848276, 113848298], [113848492, 113848644], [113849954, 113849999], [113851924, 113852034], [113853841, 113854011], [113856736, 113856897], [113857239, 113857450], [113857546, 113857768], [113860186, 113860485]]
ENST00000502622 [[113851757, 113852034], [113853841, 113854011], [113856736, 113856897], [113857239, 113857450], [113857546, 113857633]] None
NR_046363 [[113845796, 113846114], [113848492, 113848644], [113849954, 113849999], [113851924, 113852034], [113853841, 113854011], [113857239, 113857450], [113857546, 113857768], [113860186, 113861035]] None
NM_000869 [[113845796, 113846114], [113848492, 113848644], [113849954, 113849999], [113851924, 113852034], [113853841, 113854011], [113856736, 113856897], [113857239, 113857450], [113857546, 113857768], [113860186, 113861035]] [[113846029, 113846114], [113848492, 113848644], [113849954, 113849999], [113851924, 113852034], [113853841, 113854011], [113856736, 113856897], [113857239, 113857450], [113857546, 113857768], [113860186, 113860485]]
NM_213621 [[113845796, 113846114], [113848492, 113848644], [113849954, 113849999], [113851924, 113852034], [113853841, 113854011], [113856736, 113856897], [113857239, 113857768], [113860186, 113861035]] [[113846029, 113846114], [113848492, 113848644], [113849954, 113849999], [113851924, 113852034], [113853841, 113854011], [113856736, 113856897], [113857239, 113857768], [113860186, 113860485]]
NM_001161772 [[113848221, 113848298], [113848492, 113848644], [113849954, 113849999], [113851924, 113852034], [113853841, 113854011], [113856736, 113856897], [113857239, 113857450], [113857546, 113857768], [113860186, 113861035]] [[113848276, 113848298], [113848492, 113848644], [113849954, 113849999], [113851924, 113852034], [113853841, 113854011], [113856736, 113856897], [113857239, 113857450], [113857546, 113857768], [113860186, 113860485]]
Promoter
Chrom Start End Description
chr11 113848216 113848228 CAGE_peak_2_at_HTR3A_5end
chr11 113848250 113848255 CAGE_peak_5_at_HTR3A_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I113923 113923532 113923932 0.22 [{'connected_gene': 'HTR3B', 'score': 0.34}, {'connected_gene': 'HTR3A', 'score': 0.23}]
chr11 GH11I113905 113905644 113907297 0.91 [{'connected_gene': 'USP28', 'score': 11.49}, {'connected_gene': 'ENSG00000270179', 'score': 11.42}, {'connected_gene': 'HTR3A', 'score': 10.92}, {'connected_gene': 'RNU6-1107P', 'score': 10.15}, {'connected_gene': 'HTR3B', 'score': 0.44}]
chr11 GH11I113961 113961001 113961400 0.2 [{'connected_gene': 'NNMT', 'score': 9.99}, {'connected_gene': 'HTR3A', 'score': 0.39}, {'connected_gene': 'HTR3B', 'score': 0.21}]
chr11 GH11I114174 114174771 114188454 1.47 [{'connected_gene': 'NNMT', 'score': 11.56}, {'connected_gene': 'HTR3A', 'score': 10.19}, {'connected_gene': 'ZBTB16', 'score': 7.76}, {'connected_gene': 'LOC101928875', 'score': 0.44}, {'connected_gene': 'PIR38575', 'score': 0.37}]
chr11 GH11I114108 114108626 114112054 1.03 [{'connected_gene': 'NNMT', 'score': 10.76}, {'connected_gene': 'HTR3A', 'score': 9.76}, {'connected_gene': 'ENSG00000270179', 'score': 5.48}, {'connected_gene': 'GC11M114060', 'score': 0.25}, {'connected_gene': 'ZBTB16', 'score': 0.23}, {'connected_gene': 'LOC101928875', 'score': 0.21}]
chr11 GH11I114112 114112326 114118091 0.43 [{'connected_gene': 'NNMT', 'score': 10.72}, {'connected_gene': 'HTR3A', 'score': 9.31}, {'connected_gene': 'ENSG00000270179', 'score': 5.37}, {'connected_gene': 'GC11M114060', 'score': 0.23}, {'connected_gene': 'LOC101928875', 'score': 0.22}, {'connected_gene': 'ZBTB16', 'score': 0.22}]
chr11 GH11I113896 113895519 113895668 0.59 [{'connected_gene': 'NNMT', 'score': 10.88}, {'connected_gene': 'RNU6-1107P', 'score': 10.58}, {'connected_gene': 'HTR3A', 'score': 10.47}, {'connected_gene': 'HTR3B', 'score': 0.77}, {'connected_gene': 'USP28', 'score': 0.34}]
chr11 GH11I113895 113895939 113896720 0.65 [{'connected_gene': 'NNMT', 'score': 10.88}, {'connected_gene': 'RNU6-1107P', 'score': 10.58}, {'connected_gene': 'HTR3A', 'score': 10.47}, {'connected_gene': 'ATF4P4', 'score': 6.48}, {'connected_gene': 'DRD2', 'score': 4.2}, {'connected_gene': 'HTR3B', 'score': 0.77}, {'connected_gene': 'USP28', 'score': 0.34}]
chr11 GH11I113942 113942201 113942400 0.31 [{'connected_gene': 'HTR3A', 'score': 0.29}, {'connected_gene': 'HTR3B', 'score': 0.26}]
chr11 GH11I113957 113957815 113957954 0.22 [{'connected_gene': 'HTR3A', 'score': 0.37}, {'connected_gene': 'HTR3B', 'score': 0.22}]
chr11 GH11I113932 113932899 113933068 0.31 [{'connected_gene': 'HTR3A', 'score': 11.27}, {'connected_gene': 'NNMT', 'score': 10.28}, {'connected_gene': 'HTR3B', 'score': 0.29}]
chr11 GH11I113952 113952001 113953004 0.82 [{'connected_gene': 'HTR3A', 'score': 12.63}, {'connected_gene': 'NNMT', 'score': 10.35}, {'connected_gene': 'RNU6-1107P', 'score': 9.52}, {'connected_gene': 'ATF4P4', 'score': 6.99}, {'connected_gene': 'HTR3B', 'score': 0.23}]
chr11 GH11I113976 113976787 113978470 0.96 [{'connected_gene': 'HTR3A', 'score': 550.77}, {'connected_gene': 'DRD2', 'score': 6.36}, {'connected_gene': 'GC11M113987', 'score': 0.37}]
chr11 GH11I113974 113974239 113975600 1.57 [{'connected_gene': 'HTR3A', 'score': 550.77}, {'connected_gene': 'RBM7', 'score': 5.27}, {'connected_gene': 'DRD2', 'score': 4.7}, {'connected_gene': 'GC11M113987', 'score': 0.37}]
chr11 GH11I113847 113847752 113851525 0.76 [{'connected_gene': 'ATF4P4', 'score': 21.25}, {'connected_gene': 'USP28', 'score': 11.43}, {'connected_gene': 'HTR3A', 'score': 9.1}, {'connected_gene': 'LRRC37A13P', 'score': 5.56}, {'connected_gene': 'DRD2', 'score': 4.38}, {'connected_gene': 'GC11P113860', 'score': 0.44}, {'connected_gene': 'LOC100421976', 'score': 0.31}]
chr11 GH11I114026 114026519 114026668 0.56 [{'connected_gene': 'GC11P114027', 'score': 550.77}, {'connected_gene': 'NNMT', 'score': 11.0}, {'connected_gene': 'HTR3A', 'score': 10.95}, {'connected_gene': 'GC11P114024', 'score': 0.77}]
chr11 GH11I113994 113994439 113994588 0.54 [{'connected_gene': 'GC11M113987', 'score': 550.77}, {'connected_gene': 'NNMT', 'score': 12.07}, {'connected_gene': 'HTR3A', 'score': 0.37}]
chr11 GH11I114262 114262799 114263850 0.69 [{'connected_gene': 'GC11M114263', 'score': 550.77}, {'connected_gene': 'HTR3A', 'score': 10.19}, {'connected_gene': 'RNU6-1107P', 'score': 9.15}, {'connected_gene': 'NNMT', 'score': 4.63}, {'connected_gene': 'ENSG00000256947', 'score': 0.16}]