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
ENST00000396257 [[30068040, 30068418], [30084700, 30084817], [30085825, 30085981], [30087447, 30087572], [30088839, 30088998], [30090049, 30090090], [30092324, 30092482], [30094324, 30094481], [30094872, 30094958], [30100499, 30100558], [30101512, 30101643], [30102287, 30102358], [30113686, 30113748], [30168881, 30169088]] [[30068378, 30068418], [30084700, 30084817], [30085825, 30085981], [30087447, 30087572], [30088839, 30088998], [30090049, 30090090], [30092324, 30092482], [30094324, 30094481], [30094872, 30094958], [30100499, 30100558], [30101512, 30101643], [30102287, 30102358], [30113686, 30113748], [30168881, 30168887]]
ENST00000396259 [[30068056, 30068418], [30084700, 30084817], [30085825, 30085981], [30087447, 30087572], [30088839, 30088998], [30090049, 30090090], [30092324, 30092482], [30094324, 30094481], [30094872, 30094958], [30100499, 30100558], [30101512, 30101643], [30102287, 30102358], [30168881, 30170096]] [[30068378, 30068418], [30084700, 30084817], [30085825, 30085981], [30087447, 30087572], [30088839, 30088998], [30090049, 30090090], [30092324, 30092482], [30094324, 30094481], [30094872, 30094958], [30100499, 30100558], [30101512, 30101643], [30102287, 30102358], [30168881, 30168901]]
ENST00000483799 [[30067019, 30067163], [30084700, 30084817], [30085825, 30085981], [30087447, 30087572], [30088806, 30088827]] None
ENST00000258679 [[30067977, 30068418], [30084700, 30084817], [30085825, 30085981], [30087447, 30087572], [30088839, 30088998], [30090049, 30090090], [30092324, 30092482], [30094324, 30094481], [30094872, 30094958], [30100499, 30100558], [30101512, 30101643], [30102287, 30102358], [30129768, 30130360]] [[30068378, 30068418], [30084700, 30084817], [30085825, 30085981], [30087447, 30087572], [30088839, 30088998], [30090049, 30090090], [30092324, 30092482], [30094324, 30094481], [30094872, 30094958], [30100499, 30100558], [30101512, 30101643], [30102287, 30102358], [30129768, 30129791]]
ENST00000449726 [[30068028, 30068418], [30084700, 30084817], [30085825, 30085981], [30087447, 30087572], [30088839, 30088998], [30090049, 30090090], [30092324, 30092482], [30094324, 30094481], [30094872, 30094958], [30100499, 30100558], [30101512, 30101643], [30102287, 30102358], [30113686, 30113748], [30118205, 30119543]] [[30068378, 30068418], [30084700, 30084817], [30085825, 30085981], [30087447, 30087572], [30088839, 30088998], [30090049, 30090090], [30092324, 30092482], [30094324, 30094481], [30094872, 30094958], [30100499, 30100558], [30101512, 30101643], [30102287, 30102358], [30113686, 30113748], [30118205, 30118403]]
ENST00000440706 [[30068300, 30068418], [30084700, 30084817], [30085825, 30085981], [30087447, 30087572], [30088839, 30088998], [30090049, 30090090], [30092324, 30092482], [30094324, 30094481], [30094872, 30094958], [30100499, 30100558], [30101512, 30101643], [30102287, 30102358], [30113686, 30113748], [30118205, 30124279]] [[30068300, 30068418], [30084700, 30084817], [30085825, 30085981], [30087447, 30087572], [30088839, 30088998], [30090049, 30090090], [30092324, 30092482], [30094324, 30094481], [30094872, 30094958], [30100499, 30100558], [30101512, 30101643], [30102287, 30102358], [30113686, 30113748], [30118205, 30118403]]
ENST00000498106 [[30085825, 30085981], [30087447, 30087572], [30088806, 30089057], [30090049, 30090402]] None
NM_001197027 [[30067976, 30068418], [30084700, 30084817], [30085825, 30085981], [30087447, 30087572], [30088839, 30088998], [30090049, 30090090], [30092324, 30092482], [30094324, 30094481], [30094872, 30094958], [30100499, 30100558], [30101512, 30101643], [30102287, 30102358], [30113686, 30113748], [30157585, 30157961]] [[30068378, 30068418], [30084700, 30084817], [30085825, 30085981], [30087447, 30087572], [30088839, 30088998], [30090049, 30090090], [30092324, 30092482], [30094324, 30094481], [30094872, 30094958], [30100499, 30100558], [30101512, 30101643], [30102287, 30102358], [30113686, 30113748], [30157585, 30157603]]
NM_001197026 [[30067976, 30068418], [30084700, 30084817], [30085825, 30085981], [30087447, 30087572], [30088839, 30088998], [30090049, 30090090], [30092324, 30092482], [30094324, 30094481], [30094872, 30094958], [30100499, 30100558], [30101512, 30101643], [30102287, 30102358], [30113686, 30113748], [30118205, 30124279]] [[30068378, 30068418], [30084700, 30084817], [30085825, 30085981], [30087447, 30087572], [30088839, 30088998], [30090049, 30090090], [30092324, 30092482], [30094324, 30094481], [30094872, 30094958], [30100499, 30100558], [30101512, 30101643], [30102287, 30102358], [30113686, 30113748], [30118205, 30118403]]
NM_032639 [[30067976, 30068418], [30084700, 30084817], [30085825, 30085981], [30087447, 30087572], [30088839, 30088998], [30090049, 30090090], [30092324, 30092482], [30094324, 30094481], [30094872, 30094958], [30100499, 30100558], [30101512, 30101643], [30102287, 30102358], [30129768, 30130360]] [[30068378, 30068418], [30084700, 30084817], [30085825, 30085981], [30087447, 30087572], [30088839, 30088998], [30090049, 30090090], [30092324, 30092482], [30094324, 30094481], [30094872, 30094958], [30100499, 30100558], [30101512, 30101643], [30102287, 30102358], [30129768, 30129791]]
Promoter
Chrom Start End Description
chr7 30067973 30068063 CAGE_peak_1_at_PLEKHA8_5end
chr7 30068260 30068285 CAGE_peak_2_at_PLEKHA8_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr7 GH07I029975 29975380 29975439 0.61 [{'connected_gene': 'SCRN1', 'score': 550.39}, {'connected_gene': 'PLEKHA8', 'score': 11.61}, {'connected_gene': 'FKBP14', 'score': 11.61}, {'connected_gene': 'ENSG00000238906', 'score': 10.25}, {'connected_gene': 'PIR51591', 'score': 0.44}, {'connected_gene': 'LOC105375215', 'score': 0.39}]
chr7 GH07I029956 29956064 29956600 0.91 [{'connected_gene': 'SCRN1', 'score': 12.63}, {'connected_gene': 'LOC105375215', 'score': 12.63}, {'connected_gene': 'PLEKHA8', 'score': 11.12}, {'connected_gene': 'FKBP14', 'score': 11.12}, {'connected_gene': 'ENSG00000238906', 'score': 11.02}, {'connected_gene': 'ENSG00000231519', 'score': 10.59}, {'connected_gene': 'PIR51591', 'score': 0.39}, {'connected_gene': 'PIR47202', 'score': 0.28}]
chr7 GH07I030032 30032313 30033493 0.43 [{'connected_gene': 'SCRN1', 'score': 21.97}, {'connected_gene': 'LOC105375215', 'score': 10.94}, {'connected_gene': 'ENSG00000231519', 'score': 10.94}, {'connected_gene': 'PLEKHA8', 'score': 0.44}]
chr7 GH07I030025 30025338 30030661 2.09 [{'connected_gene': 'PLEKHA8', 'score': 567.82}, {'connected_gene': 'FKBP14', 'score': 550.77}, {'connected_gene': 'SCRN1', 'score': 22.4}, {'connected_gene': 'ENSG00000226874', 'score': 11.78}, {'connected_gene': 'ENSG00000263683', 'score': 11.74}, {'connected_gene': 'LOC105375215', 'score': 11.19}, {'connected_gene': 'DKFZP586I1420', 'score': 10.19}, {'connected_gene': 'ENSG00000231519', 'score': 0.25}]
chr7 GH07I029977 29977658 29978236 0.31 [{'connected_gene': 'PLEKHA8', 'score': 11.28}, {'connected_gene': 'FKBP14', 'score': 11.28}, {'connected_gene': 'PIR51591', 'score': 0.44}, {'connected_gene': 'LOC105375215', 'score': 0.44}, {'connected_gene': 'SCRN1', 'score': 0.39}]
chr7 GH07I030232 30232475 30232756 0.24 [{'connected_gene': 'PLEKHA8', 'score': 10.04}, {'connected_gene': 'FKBP14', 'score': 10.04}, {'connected_gene': 'NOD1', 'score': 9.9}, {'connected_gene': 'ZNRF2', 'score': 5.59}, {'connected_gene': 'GC07M030247', 'score': 0.37}, {'connected_gene': 'LOC105375217', 'score': 0.25}]
chr7 GH07I029619 29619837 29620082 0.68 [{'connected_gene': 'PRR15', 'score': 18.06}, {'connected_gene': 'PLEKHA8', 'score': 13.88}, {'connected_gene': 'ENSG00000264520', 'score': 13.44}, {'connected_gene': 'FKBP14', 'score': 13.09}, {'connected_gene': 'ENSG00000223813', 'score': 10.8}, {'connected_gene': 'ENSG00000226874', 'score': 9.72}, {'connected_gene': 'ZNRF2P2', 'score': 4.72}, {'connected_gene': 'TMSB4XP3', 'score': 0.44}]
chr7 GH07I029976 29976271 29977200 0.69 [{'connected_gene': 'MTURN', 'score': 14.12}, {'connected_gene': 'PLEKHA8', 'score': 11.61}, {'connected_gene': 'FKBP14', 'score': 11.61}, {'connected_gene': 'ENSG00000238906', 'score': 10.25}, {'connected_gene': 'ENSG00000223813', 'score': 7.76}, {'connected_gene': 'PIR51591', 'score': 0.44}, {'connected_gene': 'SCRN1', 'score': 0.39}, {'connected_gene': 'LOC105375215', 'score': 0.39}]
chr7 GH07I030067 30067861 30069047 0.46 [{'connected_gene': 'MTURN', 'score': 13.61}, {'connected_gene': 'PLEKHA8', 'score': 10.84}, {'connected_gene': 'FKBP14', 'score': 10.84}, {'connected_gene': 'SCRN1', 'score': 10.65}, {'connected_gene': 'LOC105375215', 'score': 10.64}, {'connected_gene': 'ENSG00000231519', 'score': 0.44}]
chr7 GH07I030121 30121058 30122785 0.59 [{'connected_gene': 'MTURN', 'score': 12.75}, {'connected_gene': 'PLEKHA8', 'score': 4.48}, {'connected_gene': 'ENSG00000283618', 'score': 0.44}, {'connected_gene': 'LOC105375216', 'score': 0.39}]
chr7 GH07I030090 30090863 30092384 0.38 [{'connected_gene': 'MTURN', 'score': 15.0}, {'connected_gene': 'PIR63011', 'score': 0.77}, {'connected_gene': 'GC07P030079', 'score': 0.39}, {'connected_gene': 'PLEKHA8', 'score': 0.21}]
chr7 GH07I030123 30123298 30125565 0.2 [{'connected_gene': 'MTURN', 'score': 12.75}, {'connected_gene': 'ENSG00000283618', 'score': 0.44}, {'connected_gene': 'LOC105375216', 'score': 0.39}, {'connected_gene': 'PLEKHA8', 'score': 0.15}]
chr7 GH07I030133 30133936 30136801 2.17 [{'connected_gene': 'MTURN', 'score': 560.66}, {'connected_gene': 'LOC105375216', 'score': 550.77}, {'connected_gene': 'ENSG00000226874', 'score': 12.46}, {'connected_gene': 'DKFZP586I1420', 'score': 11.65}, {'connected_gene': 'ENSG00000263683', 'score': 9.94}, {'connected_gene': 'PLEKHA8', 'score': 9.1}, {'connected_gene': 'ENSG00000230751', 'score': 0.44}]
chr7 GH07I029193 29193446 29196771 2.32 [{'connected_gene': 'CHN2', 'score': 563.79}, {'connected_gene': 'GC07M029191', 'score': 550.77}, {'connected_gene': 'CPVL', 'score': 550.77}, {'connected_gene': 'FKBP14', 'score': 10.89}, {'connected_gene': 'PLEKHA8', 'score': 10.33}]
chr7 GH07I030726 30726391 30728203 1.04 [{'connected_gene': 'LOC105375219', 'score': 550.77}, {'connected_gene': 'CRHR2', 'score': 27.64}, {'connected_gene': 'ENSG00000264520', 'score': 22.61}, {'connected_gene': 'PLEKHA8', 'score': 21.81}, {'connected_gene': 'FKBP14', 'score': 13.07}, {'connected_gene': 'ENSG00000226874', 'score': 9.78}, {'connected_gene': 'ENSG00000223419', 'score': 0.37}, {'connected_gene': 'LOC105375220', 'score': 0.31}, {'connected_gene': 'INMT', 'score': 0.31}]
chr7 GH07I029953 29953384 29954420 0.31 [{'connected_gene': 'LOC105375215', 'score': 12.63}, {'connected_gene': 'SCRN1', 'score': 12.61}, {'connected_gene': 'MTURN', 'score': 11.4}, {'connected_gene': 'PLEKHA8', 'score': 11.12}, {'connected_gene': 'FKBP14', 'score': 11.12}, {'connected_gene': 'ENSG00000238906', 'score': 11.02}, {'connected_gene': 'ENSG00000231519', 'score': 10.59}, {'connected_gene': 'PIR51591', 'score': 0.37}, {'connected_gene': 'PIR47202', 'score': 0.28}]
chr7 GH07I029722 29722621 29724177 1.06 [{'connected_gene': 'NOD1', 'score': 15.26}, {'connected_gene': 'ENSG00000226874', 'score': 11.93}, {'connected_gene': 'PLEKHA8', 'score': 10.55}, {'connected_gene': 'FKBP14', 'score': 9.71}, {'connected_gene': 'LOC101928208', 'score': 0.77}, {'connected_gene': 'DPY19L2P3', 'score': 0.19}, {'connected_gene': 'WIPF3', 'score': 0.18}]
chr7 GH07I029684 29684000 29686264 1.36 [{'connected_gene': 'ZNRF2P2', 'score': 569.6}, {'connected_gene': 'LOC646762', 'score': 550.77}, {'connected_gene': 'ENSG00000223813', 'score': 16.51}, {'connected_gene': 'DPY19L2P3', 'score': 13.17}, {'connected_gene': 'FKBP14', 'score': 13.08}, {'connected_gene': 'ENSG00000264520', 'score': 10.84}, {'connected_gene': 'PLEKHA8', 'score': 10.37}, {'connected_gene': 'PRR15', 'score': 6.34}, {'connected_gene': 'MIR550A3', 'score': 0.77}]
chr7 GH07I029968 29968437 29969307 0.38 [{'connected_gene': 'PIR51591', 'score': 550.77}, {'connected_gene': 'SCRN1', 'score': 12.57}, {'connected_gene': 'PLEKHA8', 'score': 11.6}, {'connected_gene': 'FKBP14', 'score': 11.6}, {'connected_gene': 'ENSG00000238906', 'score': 10.84}, {'connected_gene': 'PIR47202', 'score': 0.23}]
chr7 GH07I030038 30038305 30038454 0.31 [{'connected_gene': 'ENSG00000231519', 'score': 10.95}, {'connected_gene': 'SCRN1', 'score': 10.94}, {'connected_gene': 'LOC105375215', 'score': 10.93}, {'connected_gene': 'PLEKHA8', 'score': 0.39}]
chr7 GH07I029883 29883530 29885025 0.69 [{'connected_gene': 'ENSG00000238906', 'score': 11.87}, {'connected_gene': 'ENSG00000231519', 'score': 10.21}, {'connected_gene': 'PLEKHA8', 'score': 9.91}, {'connected_gene': 'FKBP14', 'score': 9.91}, {'connected_gene': 'GC07P029912', 'score': 0.31}, {'connected_gene': 'WIPF3', 'score': 0.18}]
chr7 GH07I029881 29881865 29882087 0.31 [{'connected_gene': 'ENSG00000238906', 'score': 11.85}, {'connected_gene': 'ENSG00000231519', 'score': 10.21}, {'connected_gene': 'PLEKHA8', 'score': 9.91}, {'connected_gene': 'FKBP14', 'score': 9.91}, {'connected_gene': 'GC07P029912', 'score': 0.29}, {'connected_gene': 'WIPF3', 'score': 0.18}]
chr7 GH07I030116 30116377 30117684 0.71 [{'connected_gene': 'ENSG00000283618', 'score': 550.77}, {'connected_gene': 'PLEKHA8', 'score': 20.92}, {'connected_gene': 'ENSG00000231519', 'score': 11.06}, {'connected_gene': 'FKBP14', 'score': 10.37}, {'connected_gene': 'LOC105375216', 'score': 0.37}]
chr7 GH07I030093 30093445 30093574 0.43 [{'connected_gene': 'PIR63011', 'score': 550.77}, {'connected_gene': 'GC07P030079', 'score': 0.39}, {'connected_gene': 'PLEKHA8', 'score': 0.2}]
chr7 GH07I030892 30892805 30898088 1.51 [{'connected_gene': 'ENSG00000226874', 'score': 16.97}, {'connected_gene': 'ENSG00000263683', 'score': 12.76}, {'connected_gene': 'ENSG00000250424', 'score': 11.17}, {'connected_gene': 'MINDY4', 'score': 11.03}, {'connected_gene': 'ENSG00000264520', 'score': 10.91}, {'connected_gene': 'PLEKHA8', 'score': 9.72}, {'connected_gene': 'AQP1', 'score': 6.2}, {'connected_gene': 'ADCYAP1R1', 'score': 3.56}, {'connected_gene': 'OSBPL9P6', 'score': 0.44}]
chr7 GH07I030593 30593344 30598963 2.31 [{'connected_gene': 'ENSG00000196295', 'score': 622.52}, {'connected_gene': 'GARS', 'score': 550.77}, {'connected_gene': 'GC07M030589', 'score': 550.77}, {'connected_gene': 'ZNRF2P2', 'score': 15.84}, {'connected_gene': 'ENSG00000244480', 'score': 13.74}, {'connected_gene': 'FKBP14', 'score': 13.06}, {'connected_gene': 'ENSG00000264520', 'score': 11.01}, {'connected_gene': 'PLEKHA8', 'score': 10.34}, {'connected_gene': 'CRHR2', 'score': 5.01}, {'connected_gene': 'PIR57163', 'score': 0.77}]
chr7 GH07I030113 30113913 30115505 0.46 [{'connected_gene': 'ENSG00000283618', 'score': 550.77}, {'connected_gene': 'MTURN', 'score': 16.71}, {'connected_gene': 'PLEKHA8', 'score': 13.16}, {'connected_gene': 'PIR63011', 'score': 0.34}]
chr7 GH07I030520 30520069 30528011 1.06 [{'connected_gene': 'ENSG00000264520', 'score': 565.28}, {'connected_gene': 'ENSG00000244480', 'score': 555.45}, {'connected_gene': 'ENSG00000196295', 'score': 50.58}, {'connected_gene': 'NOD1', 'score': 11.15}, {'connected_gene': 'FKBP14', 'score': 10.9}, {'connected_gene': 'PLEKHA8', 'score': 10.34}, {'connected_gene': 'LOC100287825', 'score': 0.44}, {'connected_gene': 'GGCT', 'score': 0.37}, {'connected_gene': 'ENSG00000281039', 'score': 0.31}]

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