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
ENST00000376356 [[25305586, 25305621], [25310670, 25310837], [25312104, 25315593]] [[25312152, 25314384]]
ENST00000524413 [[25305586, 25305718], [25310670, 25310837], [25312104, 25315593]] [[25312152, 25314384]]
NM_024838 [[25305507, 25305621], [25310670, 25310837], [25312104, 25315593]] [[25312152, 25314384]]
Promoter
Chrom Start End Description
chr10 25305502 25305523 CAGE_peak_2_at_THNSL1_5end
chr10 25305524 25305595 CAGE_peak_1_at_THNSL1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I024974 24974570 24975801 0.89 [{'connected_gene': 'THNSL1', 'score': 16.38}, {'connected_gene': 'PRTFDC1', 'score': 12.12}, {'connected_gene': 'ENKUR', 'score': 10.29}]
chr10 GH10I024302 24302508 24303141 0.2 [{'connected_gene': 'THNSL1', 'score': 4.74}, {'connected_gene': 'GC10M024284', 'score': 0.37}, {'connected_gene': 'GC10M024447', 'score': 0.11}, {'connected_gene': 'KIAA1217', 'score': 0.03}]
chr10 GH10I024306 24306323 24306789 0.51 [{'connected_gene': 'THNSL1', 'score': 4.43}, {'connected_gene': 'GC10M024284', 'score': 0.37}, {'connected_gene': 'GC10M024447', 'score': 0.11}, {'connected_gene': 'KIAA1217', 'score': 0.03}]
chr10 GH10I024988 24988872 24989021 0.72 [{'connected_gene': 'THNSL1', 'score': 16.19}, {'connected_gene': 'ENKUR', 'score': 11.66}, {'connected_gene': 'ARHGAP21', 'score': 10.97}, {'connected_gene': 'PRTFDC1', 'score': 0.28}]
chr10 GH10I024985 24985032 24985181 0.4 [{'connected_gene': 'THNSL1', 'score': 16.26}, {'connected_gene': 'ENKUR', 'score': 11.65}, {'connected_gene': 'ARHGAP21', 'score': 10.98}, {'connected_gene': 'PRTFDC1', 'score': 0.29}]
chr10 GH10I024962 24962277 24964414 1 [{'connected_gene': 'THNSL1', 'score': 10.22}, {'connected_gene': 'ENKUR', 'score': 10.14}, {'connected_gene': 'PRTFDC1', 'score': 0.44}]
chr10 GH10I025067 25067105 25069364 1.2 [{'connected_gene': 'THNSL1', 'score': 11.37}, {'connected_gene': 'ENKUR', 'score': 6.81}, {'connected_gene': 'LINC01516', 'score': 0.26}]
chr10 GH10I024651 24650971 24651559 0.2 [{'connected_gene': 'THNSL1', 'score': 10.7}, {'connected_gene': 'ENKUR', 'score': 10.7}, {'connected_gene': 'GC10P024656', 'score': 0.77}, {'connected_gene': 'RNA5SP305', 'score': 0.39}, {'connected_gene': 'ARHGAP21', 'score': 0.19}, {'connected_gene': 'GC10P024495', 'score': 0.1}]
chr10 GH10I025015 25015364 25018246 2.08 [{'connected_gene': 'THNSL1', 'score': 561.33}, {'connected_gene': 'ENKUR', 'score': 557.0}]
chr10 GH10I024650 24650811 24650941 0.2 [{'connected_gene': 'ARHGAP21', 'score': 11.34}, {'connected_gene': 'THNSL1', 'score': 10.7}, {'connected_gene': 'ENKUR', 'score': 10.7}, {'connected_gene': 'GC10P024656', 'score': 0.77}, {'connected_gene': 'RNA5SP305', 'score': 0.39}, {'connected_gene': 'GC10P024495', 'score': 0.1}]
chr10 GH10I024857 24857304 24859740 0.52 [{'connected_gene': 'ARHGAP21', 'score': 11.42}, {'connected_gene': 'THNSL1', 'score': 5.83}, {'connected_gene': 'ENSG00000228667', 'score': 0.44}, {'connected_gene': 'LOC105376456', 'score': 0.18}, {'connected_gene': 'PRTFDC1', 'score': 0.15}]
chr10 GH10I024790 24790788 24790963 0.77 [{'connected_gene': 'ARHGAP21', 'score': 4.51}, {'connected_gene': 'PRTFDC1', 'score': 1.53}, {'connected_gene': 'THNSL1', 'score': 1.39}, {'connected_gene': 'GPR158', 'score': 1.27}, {'connected_gene': 'LOC105376456', 'score': 0.39}, {'connected_gene': 'ENSG00000228667', 'score': 0.18}, {'connected_gene': 'GC10P024495', 'score': 0.06}]
chr10 GH10I024956 24956691 24959763 1.49 [{'connected_gene': 'PRTFDC1', 'score': 7.17}, {'connected_gene': 'THNSL1', 'score': 4.81}, {'connected_gene': 'ARHGAP21', 'score': 2.67}, {'connected_gene': 'GPR158', 'score': 1.23}]
chr10 GH10I024951 24951092 24954480 2.44 [{'connected_gene': 'PRTFDC1', 'score': 566.48}, {'connected_gene': 'ENSG00000273107', 'score': 550.77}, {'connected_gene': 'THNSL1', 'score': 2.08}, {'connected_gene': 'GPR158', 'score': 1.97}, {'connected_gene': 'ARHGAP21', 'score': 1.68}, {'connected_gene': 'GC10M024909', 'score': 0.26}, {'connected_gene': 'RN7SKP241', 'score': 0.26}]
chr10 GH10I024038 24038738 24042384 0.74 [{'connected_gene': 'KIAA1217', 'score': 6.13}, {'connected_gene': 'THNSL1', 'score': 4.78}, {'connected_gene': 'GC10P024032', 'score': 0.44}, {'connected_gene': 'GC10P024109', 'score': 0.2}]
chr10 GH10I024992 24992809 24994219 0.59 [{'connected_gene': 'ENKUR', 'score': 18.42}, {'connected_gene': 'THNSL1', 'score': 11.8}, {'connected_gene': 'ARHGAP21', 'score': 10.97}, {'connected_gene': 'PRTFDC1', 'score': 0.28}]
chr10 GH10I024968 24968871 24970713 0.58 [{'connected_gene': 'ENKUR', 'score': 17.11}, {'connected_gene': 'THNSL1', 'score': 15.09}, {'connected_gene': 'PRTFDC1', 'score': 4.89}]
chr10 GH10I025048 25048052 25049147 1 [{'connected_gene': 'ENKUR', 'score': 0.39}, {'connected_gene': 'THNSL1', 'score': 0.29}]
chr10 GH10I025057 25057488 25058376 0.31 [{'connected_gene': 'ENKUR', 'score': 7.16}, {'connected_gene': 'THNSL1', 'score': 0.26}]
chr10 GH10I025059 25059275 25063845 2.18 [{'connected_gene': 'ENKUR', 'score': 550.77}, {'connected_gene': 'THNSL1', 'score': 5.31}]
chr10 GH10I024866 24866367 24867846 1.34 [{'connected_gene': 'ENSG00000228667', 'score': 550.77}, {'connected_gene': 'THNSL1', 'score': 4.46}, {'connected_gene': 'ARHGAP21', 'score': 1.63}, {'connected_gene': 'PRTFDC1', 'score': 0.17}, {'connected_gene': 'LOC105376456', 'score': 0.17}]