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
ENST00000233336 [[113239730, 113240078], [113243493, 113243572], [113251719, 113251952], [113258782, 113258918], [113260488, 113260758], [113277858, 113278002], [113286257, 113299316]] [[113239921, 113240078], [113243493, 113243572], [113251719, 113251952], [113258782, 113258918], [113260488, 113260758], [113277858, 113278002], [113286257, 113286372]]
ENST00000485537 [[113239775, 113240078], [113240716, 113241507]] None
ENST00000476615 [[113258862, 113258918], [113260488, 113260758], [113277858, 113278257]] None
ENST00000460450 [[113279727, 113280144], [113286257, 113289988]] None
NM_153712 [[113239742, 113240078], [113243493, 113243572], [113251719, 113251952], [113258782, 113258918], [113260488, 113260758], [113277858, 113278002], [113286257, 113290223]] [[113239921, 113240078], [113243493, 113243572], [113251719, 113251952], [113258782, 113258918], [113260488, 113260758], [113277858, 113278002], [113286257, 113286372]]
Promoter
Chrom Start End Description
chr2 113239684 113239701 CAGE_peak_3_at_TTL_5end
chr2 113239710 113239753 CAGE_peak_1_at_TTL_5end
chr2 113239756 113239773 CAGE_peak_2_at_TTL_5end
chr2 113251697 113251704 CAGE_peak_16_at_TTL_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I112535 112535053 112535380 0.52 [{'connected_gene': 'POLR1B', 'score': 6.26}, {'connected_gene': 'IL1A', 'score': 1.85}, {'connected_gene': 'TTL', 'score': 0.23}]
chr2 GH02I112509 112509601 112509800 0.49 [{'connected_gene': 'POLR1B', 'score': 11.06}, {'connected_gene': 'TTL', 'score': 0.31}]
chr2 GH02I112541 112541120 112544038 2.09 [{'connected_gene': 'POLR1B', 'score': 601.99}, {'connected_gene': 'LOC105373562', 'score': 550.77}, {'connected_gene': 'CHCHD5', 'score': 24.79}, {'connected_gene': 'ANAPC1', 'score': 20.56}, {'connected_gene': 'RGPD8', 'score': 14.24}, {'connected_gene': 'RPS20P11', 'score': 11.87}, {'connected_gene': 'TMEM87B', 'score': 11.46}, {'connected_gene': 'ENSG00000207383', 'score': 11.15}, {'connected_gene': 'ENSG00000243389', 'score': 11.12}, {'connected_gene': 'ZC3H8', 'score': 11.09}, {'connected_gene': 'PIR56853', 'score': 0.28}, {'connected_gene': 'TTL', 'score': 0.21}]
chr2 GH02I112493 112493414 112494917 0.67 [{'connected_gene': 'RGPD8', 'score': 20.42}, {'connected_gene': 'POLR1B', 'score': 16.31}, {'connected_gene': 'CHCHD5', 'score': 9.8}, {'connected_gene': 'IL37', 'score': 9.09}, {'connected_gene': 'TTL', 'score': 0.39}]
chr2 GH02I112890 112890611 112892533 1.08 [{'connected_gene': 'IL1B', 'score': 61.56}, {'connected_gene': 'IL1RN', 'score': 28.13}, {'connected_gene': 'IL36G', 'score': 13.21}, {'connected_gene': 'IL1A', 'score': 11.69}, {'connected_gene': 'CKAP2L', 'score': 10.98}, {'connected_gene': 'RNU6-1180P', 'score': 9.8}, {'connected_gene': 'IL36B', 'score': 7.23}, {'connected_gene': 'IL36RN', 'score': 1.51}, {'connected_gene': 'TTL', 'score': 1.12}, {'connected_gene': 'PIR39579', 'score': 0.44}, {'connected_gene': 'LOC105373563', 'score': 0.37}]
chr2 GH02I112480 112480470 112484153 2.04 [{'connected_gene': 'TTL', 'score': 556.33}, {'connected_gene': 'RGPD8', 'score': 31.52}, {'connected_gene': 'POLR1B', 'score': 11.37}, {'connected_gene': 'ENSG00000207383', 'score': 10.98}, {'connected_gene': 'CHCHD5', 'score': 10.97}, {'connected_gene': 'ENSG00000243389', 'score': 10.97}]