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
ENST00000244221 [[71409868, 71415665], [71416974, 71417151], [71429581, 71429730], [71454057, 71454213]] [[71415608, 71415665], [71416974, 71417151], [71429581, 71429719]]
NM_020459 [[71409867, 71415665], [71416974, 71417151], [71429581, 71429730], [71454057, 71454233]] [[71415608, 71415665], [71416974, 71417151], [71429581, 71429719]]
Promoter
Chrom Start End Description
chr2 71454167 71454178 CAGE_peak_2_at_PAIP2B_5end
chr2 71454185 71454242 CAGE_peak_1_at_PAIP2B_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I071501 71501789 71506744 1.23 [{'connected_gene': 'DYSF', 'score': 17.22}, {'connected_gene': 'ZNF638', 'score': 12.6}, {'connected_gene': 'ENSG00000233870', 'score': 6.63}, {'connected_gene': 'PAIP2B', 'score': 5.07}, {'connected_gene': 'GC02P071578', 'score': 0.19}]
chr2 GH02I071448 71448960 71459242 2.56 [{'connected_gene': 'DYSF', 'score': 585.16}, {'connected_gene': 'ZNF638', 'score': 18.22}, {'connected_gene': 'CLEC4F', 'score': 12.6}, {'connected_gene': 'RNU6-105P', 'score': 10.85}, {'connected_gene': 'TEX261', 'score': 10.62}, {'connected_gene': 'ANKRD53', 'score': 10.11}, {'connected_gene': 'PAIP2B', 'score': 5.87}, {'connected_gene': 'OR7E91P', 'score': 5.01}, {'connected_gene': 'NAGK', 'score': 1.85}, {'connected_gene': 'GC02P071578', 'score': 0.13}]
chr2 GH02I071592 71592284 71592372 0.44 [{'connected_gene': 'PAIP2B', 'score': 2.3}, {'connected_gene': 'DYSF', 'score': 1.59}, {'connected_gene': 'GC02P071578', 'score': 0.39}, {'connected_gene': 'GC02P071827', 'score': 0.07}]
chr2 GH02I070612 70612363 70613336 0.31 [{'connected_gene': 'PAIP2B', 'score': 4.79}, {'connected_gene': 'GC02M070656', 'score': 0.25}, {'connected_gene': 'TGFA', 'score': 0.22}, {'connected_gene': 'ADD2', 'score': 0.1}]
chr2 GH02I070615 70615418 70617005 0.95 [{'connected_gene': 'PAIP2B', 'score': 4.84}, {'connected_gene': 'GC02M070656', 'score': 0.26}, {'connected_gene': 'TGFA', 'score': 0.21}, {'connected_gene': 'ADD2', 'score': 0.1}]
chr2 GH02I071337 71337401 71337600 0.38 [{'connected_gene': 'PAIP2B', 'score': 5.43}, {'connected_gene': 'ENSG00000281195', 'score': 0.28}, {'connected_gene': 'ZNF638', 'score': 0.21}]
chr2 GH02I071183 71183001 71183800 0.2 [{'connected_gene': 'PAIP2B', 'score': 4.8}, {'connected_gene': 'OR7E62P', 'score': 4.64}, {'connected_gene': 'ENSG00000233870', 'score': 0.77}]
chr2 GH02I071226 71226067 71228000 1.97 [{'connected_gene': 'PAIP2B', 'score': 558.91}, {'connected_gene': 'TEX261', 'score': 24.13}, {'connected_gene': 'ANKRD53', 'score': 21.38}, {'connected_gene': 'MPHOSPH10', 'score': 20.7}, {'connected_gene': 'TIA1', 'score': 14.89}, {'connected_gene': 'ZNF638', 'score': 6.15}, {'connected_gene': 'ENSG00000233870', 'score': 0.25}]
chr2 GH02I071235 71235540 71236700 0.49 [{'connected_gene': 'PAIP2B', 'score': 8.25}, {'connected_gene': 'LOC105374797', 'score': 0.26}]
chr2 GH02I071210 71210411 71210560 0.59 [{'connected_gene': 'PAIP2B', 'score': 0.37}, {'connected_gene': 'ENSG00000233870', 'score': 0.29}]
chr2 GH02I071331 71331071 71334301 2.01 [{'connected_gene': 'ZNF638', 'score': 558.05}, {'connected_gene': 'PAIP2B', 'score': 7.8}, {'connected_gene': 'OR7E91P', 'score': 6.48}, {'connected_gene': 'ENSG00000281195', 'score': 0.26}]
chr2 GH02I071416 71416971 71418242 0.74 [{'connected_gene': 'ZNF638', 'score': 19.36}, {'connected_gene': 'RNU6-105P', 'score': 11.69}, {'connected_gene': 'OR7E91P', 'score': 5.77}, {'connected_gene': 'PAIP2B', 'score': 4.92}, {'connected_gene': 'GC02M071380', 'score': 0.28}, {'connected_gene': 'DYSF', 'score': 0.28}]
chr2 GH02I071275 71275920 71278295 1.47 [{'connected_gene': 'ZNF638', 'score': 567.3}, {'connected_gene': 'LOC105374797', 'score': 550.77}, {'connected_gene': 'CLEC4F', 'score': 12.31}, {'connected_gene': 'TEX261', 'score': 11.83}, {'connected_gene': 'CD207', 'score': 10.43}, {'connected_gene': 'PAIP2B', 'score': 7.98}, {'connected_gene': 'OR7E91P', 'score': 5.0}, {'connected_gene': 'ENSG00000281195', 'score': 0.15}]
chr2 GH02I071157 71157001 71157892 0.68 [{'connected_gene': 'LOC101060051', 'score': 550.77}, {'connected_gene': 'PAIP2B', 'score': 5.97}, {'connected_gene': 'GC02P071160', 'score': 0.77}]
chr2 GH02I071378 71378787 71379733 0.67 [{'connected_gene': 'GC02M071380', 'score': 550.77}, {'connected_gene': 'RNU6-105P', 'score': 550.77}, {'connected_gene': 'ZNF638', 'score': 5.63}, {'connected_gene': 'PAIP2B', 'score': 5.42}, {'connected_gene': 'ENSG00000281195', 'score': 0.44}]