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
ENST00000281154 [[128651532, 128651932], [128665826, 128665954], [128685397, 128685515], [128688220, 128688375], [128689906, 128690032], [128694540, 128695448]] [[128651700, 128651932], [128665826, 128665954], [128685397, 128685515], [128688220, 128688375], [128689906, 128690032], [128694540, 128694729]]
NM_031291 [[128651532, 128651932], [128665826, 128665954], [128685397, 128685515], [128688220, 128688375], [128689906, 128690032], [128694540, 128695454]] [[128651700, 128651932], [128665826, 128665954], [128685397, 128685515], [128688220, 128688375], [128689906, 128690032], [128694540, 128694729]]
NM_001318467 [[128651532, 128651932], [128665826, 128665954], [128685397, 128685515], [128688220, 128688375], [128689906, 128690032], [128693798, 128693850], [128694540, 128695454]] [[128651700, 128651932], [128665826, 128665954], [128685397, 128685515], [128688220, 128688375], [128689906, 128690032], [128693798, 128693850], [128694540, 128694548]]
Promoter
Chrom Start End Description
chr4 128651518 128651522 CAGE_peak_4_at_SLC25A31_5end
chr4 128651530 128651540 CAGE_peak_2_at_SLC25A31_5end
chr4 128651543 128651548 CAGE_peak_3_at_SLC25A31_5end
chr4 128651549 128651601 CAGE_peak_1_at_SLC25A31_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I127698 127698406 127699359 0.98 [{'connected_gene': 'SLC25A31', 'score': 11.34}, {'connected_gene': 'INTU', 'score': 10.97}, {'connected_gene': 'LOC105377413', 'score': 0.2}]
chr4 GH04I127708 127708519 127710304 0.8 [{'connected_gene': 'SLC25A31', 'score': 11.17}, {'connected_gene': 'LOC105377413', 'score': 0.18}, {'connected_gene': 'INTU', 'score': 0.17}]
chr4 GH04I127730 127730342 127730401 0.73 [{'connected_gene': 'SLC25A31', 'score': 550.77}, {'connected_gene': 'LOC105377413', 'score': 0.15}]
chr4 GH04I127632 127632201 127634172 1.9 [{'connected_gene': 'INTU', 'score': 569.08}, {'connected_gene': 'LOC105377413', 'score': 550.77}, {'connected_gene': 'SLC25A31', 'score': 10.72}, {'connected_gene': 'MFSD8', 'score': 10.01}]
chr4 GH04I127781 127781090 127785346 2.25 [{'connected_gene': 'HSPA4L', 'score': 559.8}, {'connected_gene': 'SLC25A31', 'score': 10.24}, {'connected_gene': 'INTU', 'score': 10.15}, {'connected_gene': 'ABHD18', 'score': 4.91}, {'connected_gene': 'ENSG00000282855', 'score': 0.31}]
chr4 GH04I127634 127634306 127634475 0.2 [{'connected_gene': 'LOC105377413', 'score': 550.77}, {'connected_gene': 'SLC25A31', 'score': 10.72}, {'connected_gene': 'INTU', 'score': 0.39}]