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
ENST00000263918 [[37070782, 37076768], [37076856, 37076943], [37078142, 37078250], [37082354, 37082495], [37084998, 37085166], [37088274, 37088396], [37094956, 37095004], [37096696, 37096872], [37105033, 37105170], [37111074, 37111218], [37113858, 37113969], [37121040, 37121176], [37126665, 37126801], [37129726, 37129894], [37132682, 37132761], [37143220, 37143294], [37152247, 37152351], [37193372, 37193615]] [[37076598, 37076768], [37076856, 37076943], [37078142, 37078250], [37082354, 37082495], [37084998, 37085166], [37088274, 37088396], [37094956, 37095004], [37096696, 37096872], [37105033, 37105170], [37111074, 37111218], [37113858, 37113969], [37121040, 37121176], [37126665, 37126801], [37129726, 37129894], [37132682, 37132761], [37143220, 37143294], [37152247, 37152351], [37193372, 37193606]]
ENST00000379213 [[37075471, 37076768], [37076856, 37076943], [37078142, 37078250], [37082354, 37082495], [37084998, 37085166], [37088274, 37088396], [37094956, 37095004], [37096696, 37096872], [37105033, 37105170], [37111074, 37111218], [37121040, 37121176], [37126665, 37126801], [37129726, 37129894], [37132682, 37132761], [37143220, 37143294], [37152247, 37152351], [37193372, 37193489], [37193525, 37193606]] [[37076598, 37076768], [37076856, 37076943], [37078142, 37078250], [37082354, 37082495], [37084998, 37085166], [37088274, 37088396], [37094956, 37095004], [37096696, 37096872], [37105033, 37105170], [37111074, 37111218], [37121040, 37121176], [37126665, 37126801], [37129726, 37129894], [37132682, 37132761], [37143220, 37143294], [37152247, 37152351], [37193372, 37193489], [37193525, 37193606]]
ENST00000495595 [[37096845, 37096872], [37105033, 37105170], [37111074, 37111208], [37113858, 37113969], [37121040, 37121176], [37126665, 37126801], [37129726, 37130071]] None
NM_003162 [[37064840, 37076768], [37076856, 37076943], [37078142, 37078250], [37082354, 37082495], [37084998, 37085166], [37088274, 37088396], [37094956, 37095004], [37096696, 37096872], [37105033, 37105170], [37111074, 37111218], [37113858, 37113969], [37121040, 37121176], [37126665, 37126801], [37129726, 37129894], [37132682, 37132761], [37143220, 37143294], [37152247, 37152351], [37193372, 37193615]] [[37076598, 37076768], [37076856, 37076943], [37078142, 37078250], [37082354, 37082495], [37084998, 37085166], [37088274, 37088396], [37094956, 37095004], [37096696, 37096872], [37105033, 37105170], [37111074, 37111218], [37113858, 37113969], [37121040, 37121176], [37126665, 37126801], [37129726, 37129894], [37132682, 37132761], [37143220, 37143294], [37152247, 37152351], [37193372, 37193606]]
Promoter
Chrom Start End Description
chr2 37129754 37129795 CAGE_peak_6_at_STRN_5end
chr2 37130000 37130048 CAGE_peak_2_at_STRN_5end
chr2 37130051 37130060 CAGE_peak_9_at_STRN_5end
chr2 37130064 37130078 CAGE_peak_7_at_STRN_5end
chr2 37130087 37130098 CAGE_peak_8_at_STRN_5end
chr2 37193617 37193633 CAGE_peak_4_at_STRN_5end
chr2 37193648 37193760 CAGE_peak_1_at_STRN_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I037000 37000024 37001619 0.31 [{'connected_gene': 'STRN', 'score': 19.5}, {'connected_gene': 'GC02M036982', 'score': 0.37}, {'connected_gene': 'HEATR5B', 'score': 0.18}]
chr2 GH02I037019 37019680 37021782 0.66 [{'connected_gene': 'STRN', 'score': 20.25}, {'connected_gene': 'GC02M036982', 'score': 0.28}, {'connected_gene': 'HEATR5B', 'score': 0.21}]
chr2 GH02I036972 36972140 36972143 0.49 [{'connected_gene': 'STRN', 'score': 0.44}, {'connected_gene': 'GC02M036982', 'score': 0.39}, {'connected_gene': 'HEATR5B', 'score': 0.14}]
chr2 GH02I036961 36961576 36968848 2.29 [{'connected_gene': 'STRN', 'score': 562.56}, {'connected_gene': 'ENSG00000272054', 'score': 12.37}, {'connected_gene': 'GPATCH11', 'score': 5.52}, {'connected_gene': 'GC02P036908', 'score': 0.22}, {'connected_gene': 'HEATR5B', 'score': 0.13}]
chr2 GH02I037012 37012601 37013998 0.91 [{'connected_gene': 'STRN', 'score': 16.37}, {'connected_gene': 'GPATCH11', 'score': 5.13}, {'connected_gene': 'GC02M036982', 'score': 0.31}, {'connected_gene': 'HEATR5B', 'score': 0.19}]
chr2 GH02I036888 36888727 36891271 0.92 [{'connected_gene': 'STRN', 'score': 6.79}, {'connected_gene': 'CEBPZOS', 'score': 6.62}, {'connected_gene': 'GC02P036908', 'score': 0.37}, {'connected_gene': 'RNU6-577P', 'score': 0.34}]
chr2 GH02I036926 36926401 36926600 0.62 [{'connected_gene': 'STRN', 'score': 10.89}, {'connected_gene': 'GC02P036908', 'score': 0.37}]
chr2 GH02I036930 36930481 36931899 0.69 [{'connected_gene': 'STRN', 'score': 21.52}, {'connected_gene': 'GC02P036908', 'score': 0.34}]
chr2 GH02I036951 36951138 36954030 0.84 [{'connected_gene': 'STRN', 'score': 8.86}, {'connected_gene': 'GC02P036908', 'score': 0.26}]
chr2 GH02I037060 37060163 37061007 0.2 [{'connected_gene': 'HEATR5B', 'score': 17.42}, {'connected_gene': 'GPATCH11', 'score': 12.61}, {'connected_gene': 'STRN', 'score': 10.48}, {'connected_gene': 'GC02M036982', 'score': 0.18}]
chr2 GH02I037089 37089677 37092335 0.96 [{'connected_gene': 'CEBPZ', 'score': 15.01}, {'connected_gene': 'NDUFAF7', 'score': 10.59}, {'connected_gene': 'CEBPZOS', 'score': 6.88}, {'connected_gene': 'GPATCH11', 'score': 6.52}, {'connected_gene': 'STRN', 'score': 5.74}, {'connected_gene': 'HEATR5B', 'score': 5.42}, {'connected_gene': 'ENSG00000224891', 'score': 0.22}]
chr2 GH02I037349 37349132 37350287 1.39 [{'connected_gene': 'CEBPZOS', 'score': 14.61}, {'connected_gene': 'PRKD3', 'score': 13.32}, {'connected_gene': 'LOC101929542', 'score': 11.94}, {'connected_gene': 'NDUFAF7', 'score': 5.13}, {'connected_gene': 'HEATR5B', 'score': 3.41}, {'connected_gene': 'STRN', 'score': 2.11}, {'connected_gene': 'QPCT', 'score': 2.07}, {'connected_gene': 'GC02P037427', 'score': 0.19}]
chr2 GH02I037004 37004870 37005611 0.73 [{'connected_gene': 'ENSG00000272054', 'score': 20.5}, {'connected_gene': 'STRN', 'score': 18.02}, {'connected_gene': 'HEATR5B', 'score': 11.06}, {'connected_gene': 'CEBPZ', 'score': 10.28}, {'connected_gene': 'GC02M036982', 'score': 0.34}]
chr2 GH02I037149 37149354 37150519 0.56 [{'connected_gene': 'ENSG00000224891', 'score': 550.77}, {'connected_gene': 'RPL31P16', 'score': 10.95}, {'connected_gene': 'CEBPZOS', 'score': 10.94}, {'connected_gene': 'SULT6B1', 'score': 10.94}, {'connected_gene': 'CEBPZ', 'score': 10.76}, {'connected_gene': 'NDUFAF7', 'score': 10.76}, {'connected_gene': 'EIF2AK2', 'score': 10.68}, {'connected_gene': 'STRN', 'score': 9.6}]