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
ENST00000300030 [[64364757, 64365227], [64367690, 64367736], [64373300, 64373350], [64380885, 64381050], [64385843, 64386217]] [[64365129, 64365227], [64367690, 64367736], [64373300, 64373350], [64380885, 64381050], [64385843, 64385967]]
ENST00000558779 [[64364763, 64365227], [64365986, 64366016]] None
ENST00000380290 [[64364776, 64365227], [64367690, 64367736], [64380885, 64381050], [64385843, 64386007]] [[64367716, 64367736], [64380885, 64381050], [64385843, 64385967]]
ENST00000559705 [[64365179, 64365227], [64367690, 64367736], [64373300, 64373350], [64380885, 64381050], [64382396, 64382514], [64385843, 64386052]] [[64382428, 64382514], [64385843, 64385967]]
ENST00000557835 [[64366516, 64367736], [64380885, 64381050], [64385843, 64385994]] [[64367716, 64367736], [64380885, 64381050], [64385843, 64385967]]
ENST00000559950 [[64367603, 64367736], [64373300, 64373350], [64380885, 64381050], [64385843, 64386056]] [[64367682, 64367736], [64373300, 64373350], [64380885, 64381050], [64385843, 64385967]]
NR_110310 [[64364757, 64365227], [64367690, 64367736], [64373300, 64373350], [64380885, 64381050], [64382396, 64382514], [64385843, 64386207]] None
NM_032231 [[64364757, 64365227], [64367690, 64367736], [64373300, 64373350], [64380885, 64381050], [64385843, 64386207]] [[64365129, 64365227], [64367690, 64367736], [64373300, 64373350], [64380885, 64381050], [64385843, 64385967]]
NM_001289108 [[64364757, 64367736], [64380885, 64381050], [64385843, 64386207]] [[64367716, 64367736], [64380885, 64381050], [64385843, 64385967]]
NM_001014812 [[64364757, 64365227], [64367690, 64367736], [64380885, 64381050], [64385843, 64386207]] [[64367716, 64367736], [64380885, 64381050], [64385843, 64385967]]
Promoter
Chrom Start End Description
chr15 64385981 64386077 CAGE_peak_1_at_FAM96A_5end
chr15 64386082 64386115 CAGE_peak_2_at_FAM96A_5end
chr15 64386120 64386156 CAGE_peak_3_at_FAM96A_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr15 GH15I064088 64088890 64091955 0.79 [{'connected_gene': 'TRIP4', 'score': 22.3}, {'connected_gene': 'SNX22', 'score': 11.26}, {'connected_gene': 'FAM96A', 'score': 8.33}, {'connected_gene': 'SNX1', 'score': 8.25}, {'connected_gene': 'DAPK2', 'score': 0.37}]
chr15 GH15I064114 64114827 64135523 0.57 [{'connected_gene': 'TRIP4', 'score': 22.95}, {'connected_gene': 'SNX22', 'score': 21.06}, {'connected_gene': 'SNX1', 'score': 20.69}, {'connected_gene': 'DAPK2', 'score': 14.31}, {'connected_gene': 'PPIB', 'score': 12.41}, {'connected_gene': 'FAM96A', 'score': 11.78}, {'connected_gene': 'ENSG00000252774', 'score': 9.27}, {'connected_gene': 'PIF1', 'score': 4.02}, {'connected_gene': 'SPG21', 'score': 4.0}, {'connected_gene': 'GC15M064112', 'score': 0.39}, {'connected_gene': 'ENSG00000201071', 'score': 0.39}, {'connected_gene': 'PIR31329', 'score': 0.37}]
chr15 GH15I064104 64104802 64106000 1.37 [{'connected_gene': 'SNX22', 'score': 11.74}, {'connected_gene': 'PPIB', 'score': 11.43}, {'connected_gene': 'DAPK2', 'score': 10.33}, {'connected_gene': 'FBXL22', 'score': 9.35}, {'connected_gene': 'ENSG00000252774', 'score': 8.75}, {'connected_gene': 'FAM96A', 'score': 8.22}, {'connected_gene': 'SNX1', 'score': 2.45}, {'connected_gene': 'GC15M064112', 'score': 0.44}, {'connected_gene': 'ENSG00000201071', 'score': 0.44}]
chr15 GH15I064092 64092162 64098690 2.33 [{'connected_gene': 'SNX1', 'score': 559.07}, {'connected_gene': 'FAM96A', 'score': 558.15}, {'connected_gene': 'TRIP4', 'score': 56.77}, {'connected_gene': 'CSNK1G1', 'score': 24.55}, {'connected_gene': 'USP3', 'score': 19.87}, {'connected_gene': 'ENSG00000264937', 'score': 18.89}, {'connected_gene': 'USP3-AS1', 'score': 18.15}, {'connected_gene': 'SNX22', 'score': 18.1}, {'connected_gene': 'ZNF609', 'score': 13.58}, {'connected_gene': 'ENSG00000259635', 'score': 11.29}, {'connected_gene': 'SPG21', 'score': 10.18}, {'connected_gene': 'DAPK2', 'score': 10.03}, {'connected_gene': 'MTFMT', 'score': 9.95}, {'connected_gene': 'ENSG00000265967', 'score': 9.79}, {'connected_gene': 'GC15M064112', 'score': 0.37}, {'connected_gene': 'ENSG00000201071', 'score': 0.37}]
chr15 GH15I064741 64741985 64744025 0.38 [{'connected_gene': 'RBPMS2', 'score': 33.89}, {'connected_gene': 'TRIP4', 'score': 32.72}, {'connected_gene': 'PIF1', 'score': 6.73}, {'connected_gene': 'FAM96A', 'score': 3.94}, {'connected_gene': 'MIR1272', 'score': 0.37}, {'connected_gene': 'OAZ2', 'score': 0.28}]
chr15 GH15I064664 64664237 64665639 0.57 [{'connected_gene': 'RBPMS2', 'score': 34.57}, {'connected_gene': 'TRIP4', 'score': 21.85}, {'connected_gene': 'MIR1272', 'score': 10.0}, {'connected_gene': 'ENSG00000252774', 'score': 9.26}, {'connected_gene': 'SNX22', 'score': 9.23}, {'connected_gene': 'PLEKHO2', 'score': 5.85}, {'connected_gene': 'FAM96A', 'score': 3.98}, {'connected_gene': 'GC15P068668', 'score': 0.44}, {'connected_gene': 'ENSG00000207223', 'score': 0.39}, {'connected_gene': 'GC15M064658', 'score': 0.37}, {'connected_gene': 'ZNF609', 'score': 0.08}]
chr15 GH15I064069 64069400 64073465 1.39 [{'connected_gene': 'DAPK2', 'score': 550.77}, {'connected_gene': 'TRIP4', 'score': 43.81}, {'connected_gene': 'ZNF609', 'score': 24.06}, {'connected_gene': 'SNX1', 'score': 19.74}, {'connected_gene': 'ENSG00000264937', 'score': 19.49}, {'connected_gene': 'FAM96A', 'score': 19.0}, {'connected_gene': 'SNX22', 'score': 18.43}, {'connected_gene': 'ENSG00000265967', 'score': 13.03}, {'connected_gene': 'HERC1', 'score': 11.84}, {'connected_gene': 'USP3', 'score': 10.99}, {'connected_gene': 'MTFMT', 'score': 9.95}, {'connected_gene': 'PPIB', 'score': 9.85}, {'connected_gene': 'USP3-AS1', 'score': 9.7}, {'connected_gene': 'FBXL22', 'score': 9.63}, {'connected_gene': 'LOC101928988', 'score': 0.11}]
chr15 GH15I064653 64653882 64654031 0.6 [{'connected_gene': 'ENSG00000207223', 'score': 550.77}, {'connected_gene': 'GC15P068604', 'score': 550.77}, {'connected_gene': 'TRIP4', 'score': 22.95}, {'connected_gene': 'PLEKHO2', 'score': 4.16}, {'connected_gene': 'FAM96A', 'score': 3.98}, {'connected_gene': 'GC15P068668', 'score': 0.37}, {'connected_gene': 'ZNF609', 'score': 0.08}]
chr15 GH15I064110 64110278 64113990 1.17 [{'connected_gene': 'GC15M064112', 'score': 550.77}, {'connected_gene': 'ENSG00000201071', 'score': 550.77}, {'connected_gene': 'TRIP4', 'score': 22.76}, {'connected_gene': 'SNX22', 'score': 11.56}, {'connected_gene': 'PPIB', 'score': 11.16}, {'connected_gene': 'DAPK2', 'score': 10.3}, {'connected_gene': 'FBXL22', 'score': 9.35}, {'connected_gene': 'ENSG00000252774', 'score': 8.76}, {'connected_gene': 'SNX1', 'score': 8.21}, {'connected_gene': 'FAM96A', 'score': 7.79}, {'connected_gene': 'PIR31329', 'score': 0.31}]