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
ENST00000308377 [[33677323, 33680158], [33680354, 33681078], [33687261, 33687390], [33689757, 33690845], [33700492, 33700626]] [[33679374, 33680158], [33680354, 33681078], [33687261, 33687390], [33689757, 33690826]]
ENST00000394566 [[33677323, 33680158], [33680354, 33681078], [33687261, 33687390], [33689757, 33690845], [33693965, 33694082], [33694621, 33694719], [33700600, 33700639]] [[33679374, 33680158], [33680354, 33681078], [33687261, 33687390], [33689757, 33690826]]
ENST00000592108 [[33678917, 33679894], [33680003, 33680150]] [[33679889, 33679894], [33680003, 33680150]]
ENST00000586099 [[33687037, 33687390], [33689785, 33690011]] None
ENST00000591682 [[33690457, 33690845], [33693965, 33694062], [33700492, 33700641]] [[33690457, 33690826]]
ENST00000441608 [[33690491, 33690845], [33693965, 33694082], [33694621, 33694719], [33700492, 33700714]] [[33690491, 33690826]]
ENST00000589811 [[33690525, 33690845], [33693965, 33694082], [33700492, 33700639]] [[33690525, 33690826]]
ENST00000430814 [[33690554, 33690845], [33693965, 33694082], [33694668, 33694719], [33700492, 33700639]] [[33690554, 33690826]]
ENST00000427966 [[33690555, 33690845], [33693965, 33694082], [33694559, 33694719], [33700492, 33700639]] [[33690555, 33690826]]
ENST00000588579 [[33690586, 33690845], [33693965, 33694082], [33694559, 33694719], [33700600, 33700639]] [[33690586, 33690826]]
ENST00000589562 [[33690640, 33690845], [33693965, 33694313]] None
ENST00000592122 [[33690680, 33690845], [33693965, 33694062], [33694621, 33694719], [33700492, 33700720]] [[33690680, 33690826]]
ENST00000498396 [[33694284, 33694719], [33700492, 33700639]] None
NM_001104587 [[33677323, 33680158], [33680354, 33681078], [33687261, 33687390], [33689757, 33690845], [33693965, 33694082], [33694559, 33694719], [33700492, 33700720]] [[33679374, 33680158], [33680354, 33681078], [33687261, 33687390], [33689757, 33690826]]
NM_001104588 [[33677323, 33680158], [33680354, 33681078], [33687261, 33687390], [33689757, 33690845], [33693965, 33694062], [33694621, 33694719], [33700492, 33700720]] [[33679374, 33680158], [33680354, 33681078], [33687261, 33687390], [33689757, 33690826]]
NM_001104589 [[33677323, 33680158], [33680354, 33681078], [33687261, 33687390], [33689757, 33690845], [33693965, 33694082], [33700492, 33700720]] [[33679374, 33680158], [33680354, 33681078], [33687261, 33687390], [33689757, 33690826]]
NM_152270 [[33677323, 33680158], [33680354, 33681078], [33687261, 33687390], [33689757, 33690845], [33700492, 33700720]] [[33679374, 33680158], [33680354, 33681078], [33687261, 33687390], [33689757, 33690826]]
NM_001104590 [[33677323, 33680158], [33680354, 33681078], [33687261, 33687390], [33689757, 33690845], [33693965, 33694082], [33694621, 33694719], [33700600, 33700720]] [[33679374, 33680158], [33680354, 33681078], [33687261, 33687390], [33689757, 33690826]]
Promoter
Chrom Start End Description
chr17 33700632 33700648 CAGE_peak_1_at_SLFN11_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I035372 35372600 35375355 1.93 [{'connected_gene': 'SLFN11', 'score': 576.65}, {'connected_gene': 'LOC105371933', 'score': 550.77}, {'connected_gene': 'GC17M035325', 'score': 550.77}, {'connected_gene': 'LIG3', 'score': 30.48}, {'connected_gene': 'ZNF830', 'score': 21.09}, {'connected_gene': 'SLFN12', 'score': 18.69}, {'connected_gene': 'ENSG00000267102', 'score': 11.28}, {'connected_gene': 'ENSG00000267648', 'score': 10.52}, {'connected_gene': 'SLFN14', 'score': 9.96}, {'connected_gene': 'RFFL', 'score': 5.51}, {'connected_gene': 'E2F3P1', 'score': 5.41}, {'connected_gene': 'SLFN5', 'score': 4.72}, {'connected_gene': 'LOC729835', 'score': 0.77}]
chr17 GH17I035341 35341511 35342328 0.74 [{'connected_gene': 'SLFN11', 'score': 6.29}, {'connected_gene': 'LOC101060119', 'score': 0.77}, {'connected_gene': 'GC17P035345', 'score': 0.77}, {'connected_gene': 'GC17M035325', 'score': 0.29}]
chr17 GH17I035367 35367228 35369231 0.8 [{'connected_gene': 'SLFN12', 'score': 9.95}, {'connected_gene': 'LOC105371933', 'score': 0.77}, {'connected_gene': 'SLFN11', 'score': 0.44}, {'connected_gene': 'GC17M035325', 'score': 0.44}, {'connected_gene': 'GC17P035345', 'score': 0.34}]
chr17 GH17I035529 35529366 35532940 0.93 [{'connected_gene': 'SLFN5', 'score': 16.63}, {'connected_gene': 'AP2B1', 'score': 11.1}, {'connected_gene': 'SLFN13', 'score': 10.93}, {'connected_gene': 'NLE1', 'score': 9.8}, {'connected_gene': 'SLFN12L', 'score': 5.4}, {'connected_gene': 'RASL10B', 'score': 5.14}, {'connected_gene': 'SLFN12', 'score': 4.93}, {'connected_gene': 'CCL5', 'score': 4.74}, {'connected_gene': 'SLFN11', 'score': 4.43}, {'connected_gene': 'RFFL', 'score': 1.84}, {'connected_gene': 'GC17P035523', 'score': 0.44}]
chr17 GH17I035345 35345201 35347399 1 [{'connected_gene': 'RFFL', 'score': 6.47}, {'connected_gene': 'SLFN5', 'score': 6.21}, {'connected_gene': 'SLFN11', 'score': 6.19}, {'connected_gene': 'ZNF830', 'score': 1.47}, {'connected_gene': 'SLFN14', 'score': 1.3}, {'connected_gene': 'GC17P035345', 'score': 0.77}, {'connected_gene': 'LOC105371933', 'score': 0.31}, {'connected_gene': 'GC17M035325', 'score': 0.31}]
chr17 GH17I035533 35533194 35542151 2.13 [{'connected_gene': 'SLFN12L', 'score': 565.18}, {'connected_gene': 'AP2B1', 'score': 15.59}, {'connected_gene': 'CCL5', 'score': 13.23}, {'connected_gene': 'ZNF830', 'score': 12.83}, {'connected_gene': 'PEX12', 'score': 12.06}, {'connected_gene': 'LIG3', 'score': 11.68}, {'connected_gene': 'SLFN5', 'score': 7.32}, {'connected_gene': 'TAF5LP1', 'score': 6.78}, {'connected_gene': 'GAS2L2', 'score': 5.5}, {'connected_gene': 'SLFN11', 'score': 5.33}, {'connected_gene': 'CCL14', 'score': 4.84}, {'connected_gene': 'RFFL', 'score': 4.25}, {'connected_gene': 'CCL23', 'score': 1.28}, {'connected_gene': 'ENSG00000267035', 'score': 0.77}, {'connected_gene': 'GC17P035523', 'score': 0.39}]