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
ENST00000306346 [[32946660, 32948409], [32949279, 32949624], [32953419, 32953564], [32953839, 32954328], [32957241, 32957301]] [[32948314, 32948409], [32949279, 32949624], [32953419, 32953564], [32953839, 32954256]]
ENST00000589332 [[32948434, 32949624], [32953419, 32953564], [32953839, 32954328], [32957241, 32957301]] [[32949178, 32949624], [32953419, 32953564], [32953839, 32954256]]
ENST00000586585 [[32951774, 32954329]] None
ENST00000586687 [[32952793, 32953564], [32953839, 32954328], [32957241, 32957301]] [[32953348, 32953564], [32953839, 32954256]]
ENST00000585522 [[32953862, 32954328], [32956090, 32956234], [32957241, 32957301]] [[32953862, 32954256]]
ENST00000587422 [[32954137, 32954328], [32954433, 32954787], [32957241, 32957274]] [[32954137, 32954256]]
NM_001322290 [[32946660, 32949624], [32953419, 32953564], [32953839, 32954328], [32956359, 32956596], [32957241, 32957301]] [[32949178, 32949624], [32953419, 32953564], [32953839, 32954256]]
NM_001322286 [[32946660, 32949624], [32953419, 32953564], [32953839, 32954328], [32957241, 32957301]] [[32949178, 32949624], [32953419, 32953564], [32953839, 32954256]]
NM_145756 [[32946660, 32948409], [32949279, 32949624], [32953419, 32953564], [32953839, 32954328], [32957241, 32957301]] [[32948314, 32948409], [32949279, 32949624], [32953419, 32953564], [32953839, 32954256]]
NM_001322291 [[32953257, 32953564], [32953839, 32954328], [32957241, 32957301]] [[32953348, 32953564], [32953839, 32954256]]
Promoter
Chrom Start End Description
chr18 32957260 32957309 CAGE_peak_1_at_ZNF396_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr18 GH18I035239 35239977 35242474 2.06 [{'connected_gene': 'ZNF397', 'score': 550.77}, {'connected_gene': 'ENSG00000268573', 'score': 26.86}, {'connected_gene': 'ZNF396', 'score': 6.53}, {'connected_gene': 'ZNF24', 'score': 5.1}, {'connected_gene': 'PIR50065', 'score': 0.44}]
chr18 GH18I035343 35343193 35346585 2.58 [{'connected_gene': 'ZNF24', 'score': 556.0}, {'connected_gene': 'PIR42340', 'score': 550.77}, {'connected_gene': 'PIR57079', 'score': 550.77}, {'connected_gene': 'GC18P035348', 'score': 550.77}, {'connected_gene': 'ZNF396', 'score': 19.4}, {'connected_gene': 'ZNF397', 'score': 14.94}, {'connected_gene': 'MAPRE2', 'score': 9.25}, {'connected_gene': 'ZNF271P', 'score': 5.26}, {'connected_gene': 'GC18M035337', 'score': 0.44}]
chr18 GH18I035770 35770474 35770677 0.38 [{'connected_gene': 'MIR187', 'score': 10.98}, {'connected_gene': 'ZNF396', 'score': 4.58}, {'connected_gene': 'INO80C', 'score': 1.57}, {'connected_gene': 'ZNF24', 'score': 1.35}, {'connected_gene': 'ENSG00000267397', 'score': 0.23}, {'connected_gene': 'NRBF2P1', 'score': 0.19}]
chr18 GH18I035512 35512340 35516734 1.38 [{'connected_gene': 'GALNT1', 'score': 13.8}, {'connected_gene': 'ZNF396', 'score': 10.46}, {'connected_gene': 'INO80C', 'score': 6.13}]
chr18 GH18I035501 35501517 35502515 0.99 [{'connected_gene': 'GALNT1', 'score': 11.34}, {'connected_gene': 'ZNF396', 'score': 10.27}, {'connected_gene': 'INO80C', 'score': 8.75}]
chr18 GH18I035494 35493946 35494760 0.66 [{'connected_gene': 'ZNF396', 'score': 10.37}, {'connected_gene': 'C18orf21', 'score': 10.13}, {'connected_gene': 'INO80C', 'score': 8.29}, {'connected_gene': 'ENSG00000267140', 'score': 0.77}, {'connected_gene': 'ENSG00000279074', 'score': 0.39}]
chr18 GH18I035487 35487897 35492256 0.92 [{'connected_gene': 'ZNF396', 'score': 10.38}, {'connected_gene': 'C18orf21', 'score': 10.12}, {'connected_gene': 'INO80C', 'score': 6.25}, {'connected_gene': 'ENSG00000279074', 'score': 0.44}, {'connected_gene': 'ENSG00000267140', 'score': 0.44}]
chr18 GH18I035493 35493774 35493940 0.75 [{'connected_gene': 'ZNF396', 'score': 10.37}, {'connected_gene': 'C18orf21', 'score': 10.13}, {'connected_gene': 'INO80C', 'score': 8.29}, {'connected_gene': 'ENSG00000267140', 'score': 0.77}, {'connected_gene': 'ENSG00000279074', 'score': 0.39}]
chr18 GH18I035496 35495201 35495400 0.51 [{'connected_gene': 'ZNF396', 'score': 10.37}, {'connected_gene': 'C18orf21', 'score': 10.13}, {'connected_gene': 'ENSG00000267140', 'score': 0.77}, {'connected_gene': 'INO80C', 'score': 0.77}, {'connected_gene': 'ENSG00000279074', 'score': 0.39}]
chr18 GH18I035809 35809651 35810965 1.2 [{'connected_gene': 'ZNF396', 'score': 6.33}, {'connected_gene': 'ZNF24', 'score': 4.04}, {'connected_gene': 'INO80C', 'score': 1.84}, {'connected_gene': 'NRBF2P1', 'score': 0.29}, {'connected_gene': 'ENSG00000267397', 'score': 0.16}]
chr18 GH18I035835 35835867 35836114 0.78 [{'connected_gene': 'ZNF396', 'score': 5.43}, {'connected_gene': 'ZNF24', 'score': 3.03}, {'connected_gene': 'INO80C', 'score': 2.68}, {'connected_gene': 'NRBF2P1', 'score': 0.44}, {'connected_gene': 'ENSG00000267397', 'score': 0.13}]
chr18 GH18I035376 35376400 35377926 1.95 [{'connected_gene': 'ZNF396', 'score': 562.37}, {'connected_gene': 'ZNF24', 'score': 8.21}, {'connected_gene': 'GC18M035375', 'score': 0.77}, {'connected_gene': 'PIR58243', 'score': 0.77}]
chr18 GH18I035825 35825976 35829667 1.23 [{'connected_gene': 'ZNF396', 'score': 6.16}, {'connected_gene': 'RPRD1A', 'score': 4.76}, {'connected_gene': 'C18orf21', 'score': 4.39}, {'connected_gene': 'ZNF24', 'score': 3.65}, {'connected_gene': 'INO80C', 'score': 2.4}, {'connected_gene': 'NRBF2P1', 'score': 0.39}, {'connected_gene': 'ENSG00000267397', 'score': 0.14}]
chr18 GH18I035506 35506780 35509306 0.91 [{'connected_gene': 'ZNF396', 'score': 10.46}, {'connected_gene': 'INO80C', 'score': 7.25}, {'connected_gene': 'GALNT1', 'score': 0.19}]
chr18 GH18I035507 35506197 35506346 0.82 [{'connected_gene': 'ZNF396', 'score': 10.47}, {'connected_gene': 'INO80C', 'score': 7.53}, {'connected_gene': 'GALNT1', 'score': 0.19}]
chr18 GH18I035511 35511657 35511766 0.67 [{'connected_gene': 'ZNF396', 'score': 10.46}, {'connected_gene': 'INO80C', 'score': 0.39}, {'connected_gene': 'GALNT1', 'score': 0.2}]
chr18 GH18I035132 35131997 35132914 0.74 [{'connected_gene': 'ZNF396', 'score': 10.38}, {'connected_gene': 'MAPRE2', 'score': 4.88}, {'connected_gene': 'ENSG00000274400', 'score': 0.39}, {'connected_gene': 'ENSG00000280096', 'score': 0.23}]
chr18 GH18I035170 35170560 35172457 0.85 [{'connected_gene': 'ZNF396', 'score': 10.77}, {'connected_gene': 'MAPRE2', 'score': 10.28}, {'connected_gene': 'ENSG00000274400', 'score': 0.31}, {'connected_gene': 'PIR47170', 'score': 0.23}]
chr18 GH18I035173 35173769 35174721 0.82 [{'connected_gene': 'ZNF396', 'score': 10.77}, {'connected_gene': 'MAPRE2', 'score': 10.28}, {'connected_gene': 'ENSG00000274400', 'score': 0.31}, {'connected_gene': 'PIR47170', 'score': 0.23}]
chr18 GH18I035131 35131777 35131926 0.51 [{'connected_gene': 'ZNF396', 'score': 10.37}, {'connected_gene': 'ENSG00000274400', 'score': 0.39}, {'connected_gene': 'ENSG00000280096', 'score': 0.25}, {'connected_gene': 'MAPRE2', 'score': 0.1}]
chr18 GH18I035230 35230957 35231400 1.06 [{'connected_gene': 'ZNF396', 'score': 10.65}, {'connected_gene': 'ZSCAN30', 'score': 4.26}, {'connected_gene': 'ZNF397', 'score': 0.44}, {'connected_gene': 'PIR47170', 'score': 0.44}]
chr18 GH18I035495 35495482 35498608 2.35 [{'connected_gene': 'INO80C', 'score': 558.31}, {'connected_gene': 'ENSG00000267140', 'score': 550.77}, {'connected_gene': 'ENSG00000268573', 'score': 87.13}, {'connected_gene': 'ZNF397', 'score': 80.97}, {'connected_gene': 'ZSCAN30', 'score': 53.0}, {'connected_gene': 'ELP2', 'score': 48.88}, {'connected_gene': 'RPRD1A', 'score': 29.99}, {'connected_gene': 'C18orf21', 'score': 20.32}, {'connected_gene': 'ZNF271P', 'score': 11.06}, {'connected_gene': 'ZNF396', 'score': 10.37}, {'connected_gene': 'ENSG00000279074', 'score': 0.39}]
chr18 GH18I035475 35475952 35482999 1.57 [{'connected_gene': 'INO80C', 'score': 5.93}, {'connected_gene': 'ZNF396', 'score': 4.5}, {'connected_gene': 'MAPRE2', 'score': 3.07}, {'connected_gene': 'ZNF24', 'score': 2.77}, {'connected_gene': 'ENSG00000279074', 'score': 0.77}, {'connected_gene': 'ENSG00000267583', 'score': 0.39}, {'connected_gene': 'ENSG00000267140', 'score': 0.37}]
chr18 GH18I034976 34976052 34979998 2.59 [{'connected_gene': 'MAPRE2', 'score': 567.27}, {'connected_gene': 'ZNF397', 'score': 11.56}, {'connected_gene': 'ZNF396', 'score': 3.34}, {'connected_gene': 'ZNF24', 'score': 2.24}, {'connected_gene': 'ENSG00000280096', 'score': 0.15}]
chr18 GH18I035028 35028519 35032896 1.37 [{'connected_gene': 'MAPRE2', 'score': 8.83}, {'connected_gene': 'ZNF396', 'score': 4.44}, {'connected_gene': 'ZNF24', 'score': 1.16}, {'connected_gene': 'ENSG00000280096', 'score': 0.23}]
chr18 GH18I035122 35122605 35123818 0.74 [{'connected_gene': 'MAPRE2', 'score': 10.36}, {'connected_gene': 'ZNF396', 'score': 10.22}, {'connected_gene': 'ENSG00000274400', 'score': 0.34}, {'connected_gene': 'ENSG00000280096', 'score': 0.26}]
chr18 GH18I035010 35010871 35011625 0.2 [{'connected_gene': 'MAPRE2', 'score': 10.99}, {'connected_gene': 'ZNF396', 'score': 10.44}, {'connected_gene': 'ENSG00000280096', 'score': 0.19}]
chr18 GH18I035407 35407583 35410398 1.25 [{'connected_gene': 'LOC105372063', 'score': 550.77}, {'connected_gene': 'ZNF396', 'score': 12.01}, {'connected_gene': 'GALNT1', 'score': 11.43}, {'connected_gene': 'RPL7AP67', 'score': 0.34}]
chr18 GH18I035281 35281780 35283283 0.46 [{'connected_gene': 'PIR57805', 'score': 550.77}, {'connected_gene': 'ZNF24', 'score': 6.99}, {'connected_gene': 'ZNF396', 'score': 6.24}, {'connected_gene': 'MAPRE2', 'score': 4.73}, {'connected_gene': 'ZSCAN30', 'score': 0.44}, {'connected_gene': 'ENSG00000268573', 'score': 0.44}, {'connected_gene': 'ENSG00000274184', 'score': 0.39}]
chr18 GH18I035246 35246649 35248152 0.46 [{'connected_gene': 'PIR50065', 'score': 550.77}, {'connected_gene': 'ZNF24', 'score': 6.85}, {'connected_gene': 'MAPRE2', 'score': 6.52}, {'connected_gene': 'ZNF396', 'score': 6.28}, {'connected_gene': 'ZNF397', 'score': 0.44}, {'connected_gene': 'PIR48276', 'score': 0.44}]