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
ENST00000439131 [[78227172, 78227459], [78235740, 78236085]] [[78235742, 78236021]]
ENST00000355883 [[78227176, 78227459], [78234794, 78234808], [78235740, 78236085]] [[78227385, 78227459], [78234794, 78234808], [78235740, 78236021]]
ENST00000557011 [[78227316, 78227459], [78235740, 78236071]] [[78227385, 78227459], [78235740, 78235741]]
ENST00000556047 [[78227316, 78227459], [78234794, 78234866], [78235740, 78236071]] [[78227385, 78227459], [78234794, 78234834]]
NM_001173978 [[78227172, 78227459], [78235740, 78236085]] [[78235742, 78236021]]
NM_174943 [[78227172, 78227459], [78234794, 78234808], [78235740, 78236085]] [[78227385, 78227459], [78234794, 78234808], [78235740, 78236021]]
Promoter
Chrom Start End Description
chr14 78226880 78226939 CAGE_peak_1_at_C14orf178_5end
chr14 78227105 78227137 CAGE_peak_2_at_C14orf178_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I077706 77706838 77710052 2.01 [{'connected_gene': 'SLIRP', 'score': 556.82}, {'connected_gene': 'ALKBH1', 'score': 550.77}, {'connected_gene': 'C14orf178', 'score': 5.05}, {'connected_gene': 'ADCK1', 'score': 4.66}]
chr14 GH14I077799 77799518 77801050 2.04 [{'connected_gene': 'ADCK1', 'score': 556.76}, {'connected_gene': 'RPL21P10', 'score': 23.15}, {'connected_gene': 'C14orf178', 'score': 19.6}, {'connected_gene': 'ZMYND19P1', 'score': 12.9}, {'connected_gene': 'IRF2BPL', 'score': 11.12}, {'connected_gene': 'ALKBH1', 'score': 11.01}, {'connected_gene': 'SNW1', 'score': 9.92}, {'connected_gene': 'RPL22P2', 'score': 9.86}, {'connected_gene': 'ENSG00000199440', 'score': 0.34}, {'connected_gene': 'GC14M077822', 'score': 0.34}]
chr14 GH14I077663 77663253 77664152 1.01 [{'connected_gene': 'ADCK1', 'score': 37.68}, {'connected_gene': 'C14orf178', 'score': 13.44}, {'connected_gene': 'SLIRP', 'score': 8.57}, {'connected_gene': 'SNW1', 'score': 7.94}, {'connected_gene': 'RPL21P10', 'score': 5.46}, {'connected_gene': 'GC14P077671', 'score': 0.44}, {'connected_gene': 'COX6CP11', 'score': 0.39}]
chr14 GH14I077729 77729867 77731913 0.38 [{'connected_gene': 'ADCK1', 'score': 38.52}, {'connected_gene': 'C14orf178', 'score': 26.47}, {'connected_gene': 'SNW1', 'score': 11.72}, {'connected_gene': 'SLIRP', 'score': 11.32}, {'connected_gene': 'ALKBH1', 'score': 11.32}, {'connected_gene': 'RPL21P10', 'score': 6.58}]
chr14 GH14I077660 77660732 77661380 0.43 [{'connected_gene': 'ADCK1', 'score': 37.67}, {'connected_gene': 'C14orf178', 'score': 20.31}, {'connected_gene': 'SNW1', 'score': 5.84}, {'connected_gene': 'COX6CP11', 'score': 0.44}, {'connected_gene': 'GC14P077671', 'score': 0.39}]
chr14 GH14I077763 77763418 77763567 0.2 [{'connected_gene': 'ADCK1', 'score': 11.71}, {'connected_gene': 'C14orf178', 'score': 5.58}, {'connected_gene': 'SNW1', 'score': 0.77}]
chr14 GH14I077790 77790562 77791828 0.54 [{'connected_gene': 'RPL21P10', 'score': 16.91}, {'connected_gene': 'C14orf178', 'score': 13.66}, {'connected_gene': 'ADCK1', 'score': 0.44}, {'connected_gene': 'SNW1', 'score': 0.31}]
chr14 GH14I077674 77674918 77675147 0.2 [{'connected_gene': 'C14orf178', 'score': 20.88}, {'connected_gene': 'SLIRP', 'score': 5.02}, {'connected_gene': 'ADCK1', 'score': 4.62}, {'connected_gene': 'GC14P077671', 'score': 0.77}, {'connected_gene': 'RPL21P10', 'score': 0.44}, {'connected_gene': 'ALKBH1', 'score': 0.29}]
chr14 GH14I077795 77795522 77796982 0.85 [{'connected_gene': 'C14orf178', 'score': 17.58}, {'connected_gene': 'SLIRP', 'score': 6.5}, {'connected_gene': 'ADCK1', 'score': 5.15}, {'connected_gene': 'SNW1', 'score': 0.28}]
chr14 GH14I077768 77768601 77769000 0.2 [{'connected_gene': 'C14orf178', 'score': 21.15}, {'connected_gene': 'ADCK1', 'score': 13.07}, {'connected_gene': 'SNW1', 'score': 0.44}]
chr14 GH14I077657 77657201 77657800 0.49 [{'connected_gene': 'C14orf178', 'score': 20.4}, {'connected_gene': 'ADCK1', 'score': 5.1}, {'connected_gene': 'COX6CP11', 'score': 0.77}, {'connected_gene': 'GC14P077671', 'score': 0.39}]
chr14 GH14I077759 77759690 77762187 2 [{'connected_gene': 'C14orf178', 'score': 571.48}, {'connected_gene': 'SNW1', 'score': 559.04}, {'connected_gene': 'RPL21P10', 'score': 17.0}, {'connected_gene': 'ADCK1', 'score': 11.71}, {'connected_gene': 'SLIRP', 'score': 0.23}]
chr14 GH14I077659 77659663 77660600 0.38 [{'connected_gene': 'C14orf178', 'score': 20.19}, {'connected_gene': 'COX6CP11', 'score': 0.44}, {'connected_gene': 'GC14P077671', 'score': 0.39}]
chr14 GH14I077658 77658801 77659000 0.2 [{'connected_gene': 'C14orf178', 'score': 20.3}, {'connected_gene': 'COX6CP11', 'score': 0.44}, {'connected_gene': 'GC14P077671', 'score': 0.39}]
chr14 GH14I077737 77737860 77739504 0.38 [{'connected_gene': 'SNW1', 'score': 0.34}, {'connected_gene': 'C14orf178', 'score': 0.34}, {'connected_gene': 'SLIRP', 'score': 0.29}]
chr14 GH14I077728 77728501 77728737 0.34 [{'connected_gene': 'SNW1', 'score': 11.72}, {'connected_gene': 'C14orf178', 'score': 11.72}, {'connected_gene': 'SLIRP', 'score': 0.34}]