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
ENST00000372270 [[81891437, 81891587], [81901837, 81901935], [81903978, 81904099], [81904655, 81904820]] [[81901899, 81901935], [81903978, 81904099], [81904655, 81904666]]
ENST00000372267 [[81892346, 81892582], [81901837, 81901935], [81904655, 81904793]] [[81892518, 81892582], [81901837, 81901935], [81904655, 81904757]]
ENST00000372263 [[81892476, 81892582], [81901837, 81901935], [81903978, 81904099], [81904655, 81905115]] [[81892518, 81892582], [81901837, 81901935], [81903978, 81904099], [81904655, 81904666]]
ENST00000465660 [[81903803, 81904099], [81904655, 81904786]] None
NR_138551 [[81891438, 81891587], [81901837, 81901935], [81903978, 81904099], [81904655, 81904820]] None
NM_001012973 [[81892257, 81892582], [81901837, 81901935], [81903978, 81904099], [81904655, 81904784]] [[81892518, 81892582], [81901837, 81901935], [81903978, 81904099], [81904655, 81904666]]
NM_001331125 [[81892257, 81892582], [81901837, 81901935], [81904655, 81904820]] [[81892518, 81892582], [81901837, 81901935], [81904655, 81904757]]
Promoter
Chrom Start End Description
chr10 81891416 81891433 CAGE_peak_4_at_PLAC9_5end
chr10 81892415 81892447 CAGE_peak_2_at_PLAC9_5end
chr10 81892478 81892493 CAGE_peak_1_at_PLAC9_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I080179 80179853 80180671 0.2 [{'connected_gene': 'MBL1P', 'score': 19.46}, {'connected_gene': 'PLAC9', 'score': 5.23}, {'connected_gene': 'GC10M080155', 'score': 0.34}, {'connected_gene': 'ANXA11', 'score': 0.31}]
chr10 GH10I080177 80177562 80178624 0.66 [{'connected_gene': 'MBL1P', 'score': 11.1}, {'connected_gene': 'PLAC9', 'score': 10.35}, {'connected_gene': 'ANXA11', 'score': 9.57}, {'connected_gene': 'GC10M080155', 'score': 0.34}]
chr10 GH10I080406 80406380 80417111 2.65 [{'connected_gene': 'FAM213A', 'score': 569.7}, {'connected_gene': 'DYDC2', 'score': 18.4}, {'connected_gene': 'LOC642361', 'score': 12.05}, {'connected_gene': 'DYDC1', 'score': 10.19}, {'connected_gene': 'MBL1P', 'score': 7.51}, {'connected_gene': 'PLAC9', 'score': 6.88}, {'connected_gene': 'ANXA11', 'score': 6.45}, {'connected_gene': 'PIR57963', 'score': 0.34}]
chr10 GH10I080431 80431248 80432318 0.38 [{'connected_gene': 'FAM213A', 'score': 29.68}, {'connected_gene': 'TSPAN14', 'score': 12.66}, {'connected_gene': 'DYDC1', 'score': 10.14}, {'connected_gene': 'DYDC2', 'score': 10.11}, {'connected_gene': 'PLAC9', 'score': 6.73}, {'connected_gene': 'ANXA11', 'score': 6.38}, {'connected_gene': 'PIR57963', 'score': 0.77}]
chr10 GH10I080453 80453020 80475714 2.7 [{'connected_gene': 'TSPAN14', 'score': 561.06}, {'connected_gene': 'FAM213A', 'score': 27.16}, {'connected_gene': 'LOC101929574', 'score': 9.63}, {'connected_gene': 'DYDC1', 'score': 9.6}, {'connected_gene': 'DYDC2', 'score': 9.58}, {'connected_gene': 'ANXA11', 'score': 7.17}, {'connected_gene': 'PLAC9', 'score': 5.81}, {'connected_gene': 'MBL1P', 'score': 5.1}, {'connected_gene': 'SH2D4B', 'score': 2.37}, {'connected_gene': 'PIR41876', 'score': 0.26}]
chr10 GH10I079981 79981372 79982594 1.26 [{'connected_gene': 'SFTPD', 'score': 584.92}, {'connected_gene': 'ZNRF2P3', 'score': 550.77}, {'connected_gene': 'DPY19L2P5', 'score': 550.77}, {'connected_gene': 'GC10P081716', 'score': 550.77}, {'connected_gene': 'ENSG00000272489', 'score': 25.24}, {'connected_gene': 'ZMIZ1-AS1', 'score': 10.27}, {'connected_gene': 'PLAC9', 'score': 8.26}, {'connected_gene': 'MBL1P', 'score': 6.25}]
chr10 GH10I080153 80153830 80169233 1.42 [{'connected_gene': 'LINC00857', 'score': 27.82}, {'connected_gene': 'ENSG00000272489', 'score': 20.81}, {'connected_gene': 'MBL1P', 'score': 20.43}, {'connected_gene': 'ANXA11', 'score': 20.16}, {'connected_gene': 'PLAC9', 'score': 14.98}, {'connected_gene': 'MAT1A', 'score': 5.52}, {'connected_gene': 'SFTPD', 'score': 4.64}, {'connected_gene': 'TSPAN14', 'score': 4.41}, {'connected_gene': 'GC10M080155', 'score': 0.44}, {'connected_gene': 'PIR39736', 'score': 0.44}]
chr10 GH10I080174 80174790 80175426 0.2 [{'connected_gene': 'LINC00857', 'score': 15.72}, {'connected_gene': 'MBL1P', 'score': 11.1}, {'connected_gene': 'PLAC9', 'score': 10.35}, {'connected_gene': 'GC10M080155', 'score': 0.37}, {'connected_gene': 'ANXA11', 'score': 0.29}]
chr10 GH10I080143 80143760 80146654 1.23 [{'connected_gene': 'LINC00857', 'score': 18.57}, {'connected_gene': 'ANXA11', 'score': 12.47}, {'connected_gene': 'PLAC9', 'score': 6.85}, {'connected_gene': 'TSPAN14', 'score': 4.31}, {'connected_gene': 'PIR39736', 'score': 0.44}]
chr10 GH10I080149 80149737 80153121 0.6 [{'connected_gene': 'LINC00857', 'score': 24.86}, {'connected_gene': 'PLAC9', 'score': 13.23}, {'connected_gene': 'ANXA11', 'score': 12.5}, {'connected_gene': 'PIR39736', 'score': 0.77}]
chr10 GH10I080192 80192892 80209662 2.67 [{'connected_gene': 'ANXA11', 'score': 559.91}, {'connected_gene': 'MBL1P', 'score': 21.15}, {'connected_gene': 'ENSG00000235858', 'score': 12.0}, {'connected_gene': 'LINC00857', 'score': 10.32}, {'connected_gene': 'ENSG00000272489', 'score': 10.29}, {'connected_gene': 'MAT1A', 'score': 10.17}, {'connected_gene': 'DYDC2', 'score': 8.8}, {'connected_gene': 'PLAC9', 'score': 5.67}, {'connected_gene': 'SH2D4B', 'score': 5.07}, {'connected_gene': 'LOC642361', 'score': 4.35}, {'connected_gene': 'LOC101929574', 'score': 4.33}, {'connected_gene': 'TSPAN14', 'score': 1.23}, {'connected_gene': 'GC10M080155', 'score': 0.25}]
chr10 GH10I080170 80170429 80173941 1.39 [{'connected_gene': 'ANXA11', 'score': 568.38}, {'connected_gene': 'LINC00857', 'score': 22.69}, {'connected_gene': 'MBL1P', 'score': 20.43}, {'connected_gene': 'PLAC9', 'score': 10.4}, {'connected_gene': 'GC10M080155', 'score': 0.37}]
chr10 GH10I080135 80135351 80138903 1.02 [{'connected_gene': 'ANXA11', 'score': 11.25}, {'connected_gene': 'LINC00857', 'score': 11.24}, {'connected_gene': 'PLAC9', 'score': 5.07}, {'connected_gene': 'PIR39736', 'score': 0.37}]
chr10 GH10I080190 80190791 80192444 0.58 [{'connected_gene': 'PLAC9', 'score': 5.21}, {'connected_gene': 'ANXA11', 'score': 0.39}, {'connected_gene': 'GC10M080155', 'score': 0.28}]
chr10 GH10I080182 80182684 80184565 0.2 [{'connected_gene': 'PLAC9', 'score': 10.85}, {'connected_gene': 'ANXA11', 'score': 0.34}, {'connected_gene': 'GC10M080155', 'score': 0.31}]
chr10 GH10I080132 80131765 80134119 1.72 [{'connected_gene': 'PLAC9', 'score': 567.67}, {'connected_gene': 'TMEM254-AS1', 'score': 7.31}, {'connected_gene': 'PIR39736', 'score': 0.34}]
chr10 GH10I080131 80131565 80131714 0.4 [{'connected_gene': 'PLAC9', 'score': 550.77}, {'connected_gene': 'GC10P081045', 'score': 0.77}]
chr10 GH10I080121 80121149 80123977 0.46 [{'connected_gene': 'TMEM254-AS1', 'score': 27.87}, {'connected_gene': 'MBL1P', 'score': 19.75}, {'connected_gene': 'ANXA11', 'score': 10.65}, {'connected_gene': 'LINC00857', 'score': 10.64}, {'connected_gene': 'DYDC2', 'score': 9.95}, {'connected_gene': 'SFTPD', 'score': 6.39}, {'connected_gene': 'PLAC9', 'score': 5.58}, {'connected_gene': 'TMEM254', 'score': 5.05}, {'connected_gene': 'LOC101929574', 'score': 4.96}, {'connected_gene': 'RPL22P18', 'score': 0.77}, {'connected_gene': 'PIR41694', 'score': 0.37}]
chr10 GH10I079273 79273166 79276664 1.38 [{'connected_gene': 'PPIF', 'score': 31.74}, {'connected_gene': 'ZMIZ1', 'score': 5.98}, {'connected_gene': 'PLAC9', 'score': 5.52}, {'connected_gene': 'GC10P080929', 'score': 0.15}]
chr10 GH10I080185 80185802 80190399 1.64 [{'connected_gene': 'ENSG00000272489', 'score': 26.69}, {'connected_gene': 'MBL1P', 'score': 20.42}, {'connected_gene': 'LOC642361', 'score': 10.98}, {'connected_gene': 'LINC00857', 'score': 10.81}, {'connected_gene': 'NUTM2B-AS1', 'score': 10.21}, {'connected_gene': 'PLAC9', 'score': 7.2}, {'connected_gene': 'ANXA11', 'score': 6.79}, {'connected_gene': 'ENSG00000235858', 'score': 5.6}, {'connected_gene': 'GC10M080155', 'score': 0.29}]