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
ENST00000329402 [[39868577, 39868639], [39871683, 39871899], [39872029, 39872221]] [[39871688, 39871899], [39872029, 39872124]]
NM_000805 [[39868577, 39868639], [39871683, 39871899], [39872029, 39872221]] [[39871688, 39871899], [39872029, 39872124]]
Promoter
Chrom Start End Description
chr17 39868577 39868585 CAGE_peak_1_at_GAST_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I041737 41737524 41741225 1.23 [{'connected_gene': 'HAP1', 'score': 18.0}, {'connected_gene': 'JUP', 'score': 12.14}, {'connected_gene': 'GAST', 'score': 11.77}, {'connected_gene': 'FKBP10', 'score': 11.7}, {'connected_gene': 'P3H4', 'score': 11.7}, {'connected_gene': 'KLHL11', 'score': 10.94}, {'connected_gene': 'KAT2A', 'score': 10.11}]
chr17 GH17I041705 41705005 41706620 1.3 [{'connected_gene': 'HAP1', 'score': 16.73}, {'connected_gene': 'RN7SL399P', 'score': 11.99}, {'connected_gene': 'FKBP10', 'score': 10.93}, {'connected_gene': 'P3H4', 'score': 10.93}, {'connected_gene': 'KLHL10', 'score': 10.75}, {'connected_gene': 'NT5C3B', 'score': 10.74}, {'connected_gene': 'ENSG00000267765', 'score': 5.03}, {'connected_gene': 'ZNF385C', 'score': 3.98}, {'connected_gene': 'TTC25', 'score': 1.3}, {'connected_gene': 'GAST', 'score': 0.44}, {'connected_gene': 'GC17P041692', 'score': 0.39}, {'connected_gene': 'GC17P041691', 'score': 0.39}]
chr17 GH17I041696 41696256 41697922 1.27 [{'connected_gene': 'HAP1', 'score': 17.34}, {'connected_gene': 'RN7SL399P', 'score': 11.79}, {'connected_gene': 'FKBP10', 'score': 10.87}, {'connected_gene': 'P3H4', 'score': 10.87}, {'connected_gene': 'NT5C3B', 'score': 10.27}, {'connected_gene': 'KLHL10', 'score': 10.27}, {'connected_gene': 'KLHL11', 'score': 10.25}, {'connected_gene': 'ZNF385C', 'score': 4.37}, {'connected_gene': 'GC17P041692', 'score': 0.44}, {'connected_gene': 'GC17P041691', 'score': 0.44}, {'connected_gene': 'GAST', 'score': 0.37}]
chr17 GH17I041712 41712277 41712336 0.61 [{'connected_gene': 'GAST', 'score': 550.77}, {'connected_gene': 'GC17P041692', 'score': 0.34}, {'connected_gene': 'GC17P041691', 'score': 0.34}]
chr17 GH17I041891 41891107 41893151 0.76 [{'connected_gene': 'NT5C3B', 'score': 32.6}, {'connected_gene': 'KLHL11', 'score': 12.15}, {'connected_gene': 'KLHL10', 'score': 11.61}, {'connected_gene': 'HAP1', 'score': 11.5}, {'connected_gene': 'RN7SL399P', 'score': 11.49}, {'connected_gene': 'FKBP10', 'score': 11.15}, {'connected_gene': 'P3H4', 'score': 11.15}, {'connected_gene': 'CNP', 'score': 10.82}, {'connected_gene': 'JUP', 'score': 10.77}, {'connected_gene': 'GAST', 'score': 10.03}, {'connected_gene': 'ENSG00000267632', 'score': 4.34}, {'connected_gene': 'GC17M041900', 'score': 0.44}, {'connected_gene': 'PIR36467', 'score': 0.44}, {'connected_gene': 'ENSG00000274630', 'score': 0.34}, {'connected_gene': 'ACLY', 'score': 0.28}]
chr17 GH17I041806 41806620 41807926 0.74 [{'connected_gene': 'NT5C3B', 'score': 36.76}, {'connected_gene': 'JUP', 'score': 12.35}, {'connected_gene': 'KLHL10', 'score': 11.93}, {'connected_gene': 'KLHL11', 'score': 11.44}, {'connected_gene': 'ENSG00000259623', 'score': 11.03}, {'connected_gene': 'CCR10', 'score': 10.81}, {'connected_gene': 'GAST', 'score': 10.37}, {'connected_gene': 'PIR33798', 'score': 0.77}, {'connected_gene': 'P3H4', 'score': 0.44}, {'connected_gene': 'PIR32942', 'score': 0.37}]
chr17 GH17I041901 41901195 41902223 0.31 [{'connected_gene': 'NT5C3B', 'score': 79.38}, {'connected_gene': 'KLHL10', 'score': 11.58}, {'connected_gene': 'KLHL11', 'score': 11.43}, {'connected_gene': 'GAST', 'score': 10.75}, {'connected_gene': 'CNP', 'score': 10.69}, {'connected_gene': 'GC17M041900', 'score': 0.77}, {'connected_gene': 'PIR36467', 'score': 0.77}, {'connected_gene': 'GC17P041919', 'score': 0.37}, {'connected_gene': 'ACLY', 'score': 0.31}]
chr17 GH17I041894 41894303 41897038 1 [{'connected_gene': 'NT5C3B', 'score': 79.28}, {'connected_gene': 'LOC108783654', 'score': 12.55}, {'connected_gene': 'KLHL11', 'score': 11.97}, {'connected_gene': 'KLHL10', 'score': 11.6}, {'connected_gene': 'ENSG00000267758', 'score': 11.0}, {'connected_gene': 'GAST', 'score': 10.75}, {'connected_gene': 'CNP', 'score': 10.68}, {'connected_gene': 'FKBP10', 'score': 6.14}, {'connected_gene': 'GC17M041900', 'score': 0.77}, {'connected_gene': 'PIR36467', 'score': 0.77}, {'connected_gene': 'ENSG00000274630', 'score': 0.31}, {'connected_gene': 'ACLY', 'score': 0.29}]
chr17 GH17I041695 41695989 41696238 1.08 [{'connected_gene': 'RN7SL399P', 'score': 11.45}, {'connected_gene': 'HAP1', 'score': 11.44}, {'connected_gene': 'FKBP10', 'score': 10.39}, {'connected_gene': 'P3H4', 'score': 10.39}, {'connected_gene': 'KLHL11', 'score': 10.25}, {'connected_gene': 'KLHL10', 'score': 9.64}, {'connected_gene': 'NT5C3B', 'score': 9.64}, {'connected_gene': 'GC17P041692', 'score': 0.77}, {'connected_gene': 'GC17P041691', 'score': 0.77}, {'connected_gene': 'GAST', 'score': 0.37}]
chr17 GH17I041716 41716794 41718746 0.96 [{'connected_gene': 'GC17P041719', 'score': 550.77}, {'connected_gene': 'RNA5SP442', 'score': 550.77}, {'connected_gene': 'JUP', 'score': 11.05}, {'connected_gene': 'FKBP10', 'score': 10.97}, {'connected_gene': 'P3H4', 'score': 10.97}, {'connected_gene': 'KLHL11', 'score': 10.74}, {'connected_gene': 'NT5C3B', 'score': 10.61}, {'connected_gene': 'KLHL10', 'score': 10.61}, {'connected_gene': 'HAP1', 'score': 9.96}, {'connected_gene': 'GAST', 'score': 0.44}]