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
ENST00000543885 [[43914186, 43914298], [44027525, 44027655], [44030258, 44030363], [44030666, 44030762], [44035936, 44036043], [44036481, 44040322]] [[44027616, 44027655], [44030258, 44030363], [44030666, 44030762], [44035936, 44036043], [44036481, 44036599]]
ENST00000269439 [[43914186, 43914298], [44013152, 44013468], [44015251, 44015359], [44027525, 44027655], [44030258, 44030363], [44030666, 44030762], [44035936, 44036043], [44036481, 44043103]] [[43914237, 43914298], [44013152, 44013468], [44015251, 44015359], [44027525, 44027655], [44030258, 44030363], [44030666, 44030762], [44035936, 44036043], [44036481, 44036599]]
ENST00000586604 [[43914186, 43914298], [44027525, 44027655], [44030258, 44030363], [44030666, 44030762], [44035936, 44036043], [44036481, 44043103]] [[43914237, 43914298], [44027525, 44027551]]
ENST00000593230 [[43906771, 43906910], [44013152, 44013468], [44015251, 44015359], [44027525, 44027655], [44030258, 44030312]] [[44013292, 44013468], [44015251, 44015359], [44027525, 44027655], [44030258, 44030312]]
ENST00000587853 [[43913930, 43914075], [43914192, 43914298], [43915850, 43917610]] [[43914237, 43914298], [43915850, 43915858]]
ENST00000590330 [[43913990, 43914298], [43915850, 43916591]] [[43914237, 43914298], [43915850, 43915858]]
ENST00000588679 [[43914186, 43917090]] [[43914237, 43914444]]
ENST00000592777 [[44027409, 44027655], [44030258, 44030363], [44030666, 44030762], [44035936, 44036030]] None
NM_001256758 [[43914186, 43914298], [44027525, 44027655], [44030258, 44030363], [44030666, 44030762], [44035936, 44036043], [44036481, 44040783]] [[44027616, 44027655], [44030258, 44030363], [44030666, 44030762], [44035936, 44036043], [44036481, 44036599]]
NM_152470 [[43914186, 43914298], [44013152, 44013468], [44015251, 44015359], [44027525, 44027655], [44030258, 44030363], [44030666, 44030762], [44035936, 44036043], [44036481, 44040783]] [[43914237, 43914298], [44013152, 44013468], [44015251, 44015359], [44027525, 44027655], [44030258, 44030363], [44030666, 44030762], [44035936, 44036043], [44036481, 44036599]]
NR_046357 [[43914186, 43914298], [43915850, 43917614]] None
Promoter
Chrom Start End Description
chr18 43913905 43913914 CAGE_peak_6_at_RNF165_5end
chr18 43913919 43913967 CAGE_peak_2_at_RNF165_5end
chr18 43913973 43914005 CAGE_peak_1_at_RNF165_5end
chr18 43914019 43914036 CAGE_peak_4_at_RNF165_5end
chr18 43914051 43914066 CAGE_peak_5_at_RNF165_5end
chr18 43914159 43914222 CAGE_peak_3_at_RNF165_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr18 GH18I046792 46792175 46792443 0.26 [{'connected_gene': 'PIAS2', 'score': 12.55}, {'connected_gene': 'RNF165', 'score': 1.87}, {'connected_gene': 'ENSG00000274776', 'score': 0.77}, {'connected_gene': 'GC18P046803', 'score': 0.39}]
chr18 GH18I045997 45997340 45999650 1.36 [{'connected_gene': 'EPG5', 'score': 7.38}, {'connected_gene': 'HAUS1', 'score': 5.19}, {'connected_gene': 'SLC14A2', 'score': 4.4}, {'connected_gene': 'RNF165', 'score': 1.55}, {'connected_gene': 'RN7SKP26', 'score': 0.44}, {'connected_gene': 'LOC100422497', 'score': 0.31}, {'connected_gene': 'PSTPIP2', 'score': 0.19}]
chr18 GH18I046259 46259381 46265998 0.89 [{'connected_gene': 'RNF165', 'score': 11.24}, {'connected_gene': 'ATP5F1A', 'score': 6.51}, {'connected_gene': 'C18orf25', 'score': 6.24}, {'connected_gene': 'GC18P046277', 'score': 0.39}]
chr18 GH18I046600 46600258 46601885 0.42 [{'connected_gene': 'RNF165', 'score': 4.54}, {'connected_gene': 'LOXHD1', 'score': 3.09}, {'connected_gene': 'GC18M046613', 'score': 0.39}, {'connected_gene': 'GC18P046580', 'score': 0.34}]
chr18 GH18I046425 46425058 46425423 0.49 [{'connected_gene': 'RNF165', 'score': 13.44}, {'connected_gene': 'GC18P046450', 'score': 0.31}, {'connected_gene': 'LOC105372095', 'score': 0.28}]
chr18 GH18I046414 46414401 46415244 0.74 [{'connected_gene': 'RNF165', 'score': 17.93}, {'connected_gene': 'LOC105372095', 'score': 0.31}, {'connected_gene': 'GC18P046450', 'score': 0.28}]
chr18 GH18I046410 46410035 46414259 1.04 [{'connected_gene': 'RNF165', 'score': 12.64}, {'connected_gene': 'LOC105372095', 'score': 0.34}, {'connected_gene': 'GC18P046450', 'score': 0.28}]
chr18 GH18I046418 46418887 46420131 0.86 [{'connected_gene': 'RNF165', 'score': 17.22}, {'connected_gene': 'LOC105372095', 'score': 0.31}, {'connected_gene': 'GC18P046450', 'score': 0.29}]
chr18 GH18I046333 46333800 46339304 2.25 [{'connected_gene': 'RNF165', 'score': 550.44}, {'connected_gene': 'GC18P046376', 'score': 0.26}]
chr18 GH18I046343 46343658 46344944 0.9 [{'connected_gene': 'RNF165', 'score': 0.37}, {'connected_gene': 'GC18P046376', 'score': 0.29}]
chr18 GH18I046334 46333058 46333792 1.02 [{'connected_gene': 'RNF165', 'score': 0.44}, {'connected_gene': 'GC18P046376', 'score': 0.26}]
chr18 GH18I046151 46151884 46154131 1.42 [{'connected_gene': 'C18orf25', 'score': 6.06}, {'connected_gene': 'PSTPIP2', 'score': 5.15}, {'connected_gene': 'RNF165', 'score': 3.52}, {'connected_gene': 'GC18M046141', 'score': 0.37}, {'connected_gene': 'GC18M046122', 'score': 0.29}, {'connected_gene': 'RNU6-1278P', 'score': 0.29}]
chr18 GH18I046385 46385794 46390245 0.43 [{'connected_gene': 'LOC105372095', 'score': 550.77}, {'connected_gene': 'RNF165', 'score': 8.5}, {'connected_gene': 'ENSG00000279829', 'score': 0.77}]
chr18 GH18I046407 46407401 46407801 0.66 [{'connected_gene': 'LOC105372095', 'score': 0.37}, {'connected_gene': 'GC18P046450', 'score': 0.26}, {'connected_gene': 'RNF165', 'score': 0.18}]
chr18 GH18I046408 46408319 46408947 0.86 [{'connected_gene': 'LOC105372095', 'score': 0.37}, {'connected_gene': 'GC18P046450', 'score': 0.26}, {'connected_gene': 'RNF165', 'score': 0.18}]
chr18 GH18I046790 46790260 46790600 0.24 [{'connected_gene': 'ENSG00000274776', 'score': 550.77}, {'connected_gene': 'KATNAL2', 'score': 14.07}, {'connected_gene': 'PIAS2', 'score': 13.45}, {'connected_gene': 'RNF165', 'score': 1.36}, {'connected_gene': 'GC18P046803', 'score': 0.39}]
chr18 GH18I046458 46458558 46458707 0.38 [{'connected_gene': 'GC18P046450', 'score': 0.44}, {'connected_gene': 'GC18P046558', 'score': 0.15}, {'connected_gene': 'RNF165', 'score': 0.12}]
chr18 GH18I046366 46366251 46367353 0.2 [{'connected_gene': 'GC18P046376', 'score': 0.39}, {'connected_gene': 'RNF165', 'score': 0.28}]
chr18 GH18I046323 46323904 46325347 1.18 [{'connected_gene': 'GC18M046275', 'score': 550.77}, {'connected_gene': 'RNF165', 'score': 5.03}, {'connected_gene': 'GC18P046309', 'score': 0.37}]
chr18 GH18I046426 46426158 46426307 0.2 [{'connected_gene': 'GC18P046450', 'score': 0.34}, {'connected_gene': 'LOC105372095', 'score': 0.28}, {'connected_gene': 'RNF165', 'score': 0.15}]
chr18 GH18I046424 46424734 46424774 0.2 [{'connected_gene': 'GC18P046450', 'score': 0.31}, {'connected_gene': 'LOC105372095', 'score': 0.28}, {'connected_gene': 'RNF165', 'score': 0.15}]
chr18 GH18I046448 46448538 46448707 0.2 [{'connected_gene': 'GC18P046450', 'score': 0.77}, {'connected_gene': 'LOC105372095', 'score': 0.22}, {'connected_gene': 'RNF165', 'score': 0.13}]
chr18 GH18I046433 46433001 46434148 0.63 [{'connected_gene': 'GC18P046450', 'score': 0.37}, {'connected_gene': 'LOC105372095', 'score': 0.26}, {'connected_gene': 'RNF165', 'score': 0.14}]