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
ENST00000600692 [[21324826, 21324989], [21326353, 21326446], [21349137, 21349264], [21350373, 21350469], [21358255, 21358277], [21365425, 21366895]] [[21324986, 21324989], [21326353, 21326446], [21349137, 21349264], [21350373, 21350469], [21358255, 21358277], [21365425, 21365519]]
ENST00000599296 [[21324837, 21324989], [21326353, 21326446], [21349137, 21349264], [21350373, 21350469], [21352605, 21352685], [21365425, 21365463]] [[21324986, 21324989], [21326353, 21326446], [21349137, 21349264], [21350373, 21350469], [21352605, 21352655]]
ENST00000594425 [[21324839, 21324989], [21326353, 21326446], [21372667, 21373034]] [[21324986, 21324989], [21326353, 21326446], [21372667, 21372694]]
ENST00000311048 [[21324842, 21324989], [21326353, 21326446], [21349137, 21349264], [21350373, 21350469], [21365425, 21368805]] [[21324986, 21324989], [21326353, 21326446], [21349137, 21349264], [21350373, 21350469], [21365425, 21366837]]
ENST00000598331 [[21324879, 21324989], [21326353, 21326446], [21333881, 21334001], [21349137, 21349264], [21350373, 21350469], [21365425, 21365961]] [[21324986, 21324989], [21326353, 21326446], [21333881, 21334001], [21349137, 21349264], [21350373, 21350469], [21365425, 21365961]]
ENST00000593426 [[21367294, 21367400], [21372667, 21373029]] None
ENST00000594821 [[21368746, 21369090], [21372667, 21372801]] None
NM_133473 [[21324812, 21324989], [21326353, 21326446], [21349137, 21349264], [21350373, 21350469], [21365425, 21368805]] [[21324986, 21324989], [21326353, 21326446], [21349137, 21349264], [21350373, 21350469], [21365425, 21366837]]
NM_001319126 [[21324812, 21324989], [21326353, 21326446], [21349137, 21349264], [21350373, 21350469], [21358255, 21358277], [21365425, 21368805]] [[21350445, 21350469], [21358255, 21358277], [21365425, 21366837]]
NM_001319127 [[21324812, 21324989], [21326353, 21326446], [21349137, 21349264], [21350373, 21350469], [21352605, 21352685], [21365425, 21368805]] [[21365427, 21366837]]
NM_001319124 [[21324812, 21324989], [21326353, 21326446], [21349137, 21349264], [21350370, 21350469], [21365425, 21368805]] [[21324986, 21324989], [21326353, 21326446], [21349137, 21349264], [21350370, 21350469], [21365425, 21366837]]
NR_138052 [[21324812, 21324936], [21326353, 21326446], [21333881, 21334001], [21349137, 21349264], [21350370, 21350469], [21365425, 21367400], [21372667, 21378856]] None
NR_138053 [[21324812, 21324989], [21326353, 21326446], [21349137, 21349264], [21350370, 21350469], [21365425, 21367400], [21372667, 21378856]] None
Promoter
Chrom Start End Description
chr19 21324829 21324855 CAGE_peak_1_at_ZNF431_5end
chr19 21324863 21324874 CAGE_peak_2_at_ZNF431_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I021019 21019975 21024577 2.18 [{'connected_gene': 'ZNF430', 'score': 550.77}, {'connected_gene': 'ZNF100', 'score': 22.82}, {'connected_gene': 'LOC641367', 'score': 22.08}, {'connected_gene': 'ZNF714', 'score': 22.01}, {'connected_gene': 'ZNF90', 'score': 19.49}, {'connected_gene': 'BNIP3P26', 'score': 18.57}, {'connected_gene': 'RPL7AP10', 'score': 17.68}, {'connected_gene': 'ZNF66', 'score': 14.57}, {'connected_gene': 'ZNF431', 'score': 13.79}, {'connected_gene': 'ZNF486', 'score': 13.19}, {'connected_gene': 'BNIP3P16', 'score': 12.52}, {'connected_gene': 'VN1R82P', 'score': 11.73}, {'connected_gene': 'LOC101928960', 'score': 10.87}, {'connected_gene': 'ZNF429', 'score': 6.49}, {'connected_gene': 'ZNF738', 'score': 4.38}, {'connected_gene': 'ENSG00000271598', 'score': 0.77}]
chr19 GH19I020922 20922455 20924600 1.84 [{'connected_gene': 'ZNF85', 'score': 550.77}, {'connected_gene': 'ZNF100', 'score': 31.82}, {'connected_gene': 'ZNF66', 'score': 15.5}, {'connected_gene': 'ZNF90', 'score': 12.39}, {'connected_gene': 'RPL7AP10', 'score': 11.75}, {'connected_gene': 'ZNF431', 'score': 11.27}, {'connected_gene': 'LOC641367', 'score': 10.92}, {'connected_gene': 'ZNF43', 'score': 10.63}, {'connected_gene': 'ZNF486', 'score': 9.76}, {'connected_gene': 'ENSG00000268416', 'score': 4.64}, {'connected_gene': 'ENSG00000279404', 'score': 0.44}]
chr19 GH19I021396 21396439 21398401 1.94 [{'connected_gene': 'ZNF493', 'score': 550.77}, {'connected_gene': 'LOC105372321', 'score': 33.68}, {'connected_gene': 'ZNF100', 'score': 31.85}, {'connected_gene': 'RPL7AP10', 'score': 11.75}, {'connected_gene': 'ZNF431', 'score': 11.26}, {'connected_gene': 'LOC641367', 'score': 10.95}, {'connected_gene': 'ZNF43', 'score': 10.65}, {'connected_gene': 'ZNF66', 'score': 10.49}, {'connected_gene': 'MTDHP4', 'score': 4.45}, {'connected_gene': 'ENSG00000269237', 'score': 0.44}]
chr19 GH19I020660 20660150 20662244 1.86 [{'connected_gene': 'ZNF626', 'score': 559.1}, {'connected_gene': 'ENSG00000269110', 'score': 550.77}, {'connected_gene': 'ENSG00000269779', 'score': 11.88}, {'connected_gene': 'RPL7AP10', 'score': 11.72}, {'connected_gene': 'ZNF431', 'score': 11.23}, {'connected_gene': 'GC19M022338', 'score': 0.77}, {'connected_gene': 'GC19M022340', 'score': 0.39}]
chr19 GH19I021091 21091091 21092882 0.38 [{'connected_gene': 'ZNF431', 'score': 6.18}, {'connected_gene': 'ZNF429', 'score': 4.39}, {'connected_gene': 'ZNF714', 'score': 0.44}, {'connected_gene': 'GC19M022124', 'score': 0.34}, {'connected_gene': 'RNA5SP469', 'score': 0.34}]
chr19 GH19I021141 21141125 21144781 1.98 [{'connected_gene': 'ZNF431', 'score': 550.77}, {'connected_gene': 'ZNF100', 'score': 12.96}, {'connected_gene': 'ZNF708', 'score': 12.57}, {'connected_gene': 'ZNF714', 'score': 11.84}, {'connected_gene': 'LOC641367', 'score': 10.93}, {'connected_gene': 'ENSG00000268555', 'score': 10.71}, {'connected_gene': 'LOC105372321', 'score': 6.59}, {'connected_gene': 'ZNF738', 'score': 5.56}, {'connected_gene': 'ZNF429', 'score': 4.7}, {'connected_gene': 'RPL7AP10', 'score': 0.44}]
chr19 GH19I020999 20999295 21000679 0.92 [{'connected_gene': 'ZNF100', 'score': 22.1}, {'connected_gene': 'ZNF431', 'score': 14.87}, {'connected_gene': 'RPL7AP10', 'score': 11.78}, {'connected_gene': 'LOC641367', 'score': 10.92}, {'connected_gene': 'GC19M022341', 'score': 0.37}, {'connected_gene': 'ENSG00000268326', 'score': 0.31}]
chr19 GH19I021766 21766200 21768228 1.95 [{'connected_gene': 'ZNF100', 'score': 657.64}, {'connected_gene': 'PIR33243', 'score': 550.77}, {'connected_gene': 'RPL7AP10', 'score': 11.71}, {'connected_gene': 'MTDHP4', 'score': 11.48}, {'connected_gene': 'LOC641367', 'score': 11.26}, {'connected_gene': 'ZNF431', 'score': 11.22}]
chr19 GH19I021081 21081535 21083401 1.96 [{'connected_gene': 'ZNF714', 'score': 562.04}, {'connected_gene': 'LOC641367', 'score': 25.51}, {'connected_gene': 'ZNF100', 'score': 20.92}, {'connected_gene': 'BNIP3P26', 'score': 18.34}, {'connected_gene': 'RPL7AP10', 'score': 10.84}, {'connected_gene': 'BNIP3P16', 'score': 10.75}, {'connected_gene': 'ZNF431', 'score': 6.17}, {'connected_gene': 'GC19M022124', 'score': 0.29}, {'connected_gene': 'RNA5SP469', 'score': 0.29}]
chr19 GH19I021126 21126618 21130798 1.05 [{'connected_gene': 'ZNF714', 'score': 22.07}, {'connected_gene': 'ZNF431', 'score': 6.72}, {'connected_gene': 'LOC105372321', 'score': 5.99}, {'connected_gene': 'BNIP3P17', 'score': 4.8}, {'connected_gene': 'ZNF493', 'score': 4.22}, {'connected_gene': 'VN1R81P', 'score': 0.77}]
chr19 GH19I021138 21138238 21138407 0.46 [{'connected_gene': 'ZNF714', 'score': 11.86}, {'connected_gene': 'ZNF431', 'score': 0.77}, {'connected_gene': 'VN1R81P', 'score': 0.39}]