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
ENST00000295834 [[88422509, 88422623], [88424012, 88424105], [88425694, 88425867], [88427469, 88427635]] [[88422572, 88422623], [88424012, 88424105], [88425694, 88425867], [88427469, 88427536]]
ENST00000393750 [[88422538, 88424105], [88425694, 88425867], [88427469, 88427568]] [[88423970, 88424105], [88425694, 88425867], [88427469, 88427536]]
ENST00000495375 [[88422547, 88424105], [88425694, 88425867], [88426003, 88426265], [88427469, 88427560]] None
ENST00000472846 [[88425430, 88425867], [88427469, 88427578]] None
NM_001443 [[88422500, 88422623], [88424012, 88424105], [88425694, 88425867], [88427469, 88427650]] [[88422572, 88422623], [88424012, 88424105], [88425694, 88425867], [88427469, 88427536]]
Promoter
Chrom Start End Description
chr2 88427571 88427590 CAGE_peak_1_at_FABP1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I088143 88143122 88143718 0.2 [{'connected_gene': 'THNSL2', 'score': 43.97}, {'connected_gene': 'KRCC1', 'score': 11.09}, {'connected_gene': 'GC02P088146', 'score': 0.77}, {'connected_gene': 'FABP1', 'score': 0.37}, {'connected_gene': 'LOC101928347', 'score': 0.31}]
chr2 GH02I088099 88099862 88100151 0.62 [{'connected_gene': 'THNSL2', 'score': 10.77}, {'connected_gene': 'RPIA', 'score': 4.01}, {'connected_gene': 'MIR4780', 'score': 0.37}, {'connected_gene': 'FABP1', 'score': 0.31}, {'connected_gene': 'SMYD1', 'score': 0.29}]
chr2 GH02I088160 88160002 88160151 1.07 [{'connected_gene': 'THNSL2', 'score': 82.5}, {'connected_gene': 'FABP1', 'score': 11.07}, {'connected_gene': 'GC02P088146', 'score': 0.39}, {'connected_gene': 'LOC101928347', 'score': 0.39}]
chr2 GH02I088123 88123178 88124872 0.38 [{'connected_gene': 'THNSL2', 'score': 10.28}, {'connected_gene': 'FABP1', 'score': 6.92}, {'connected_gene': 'MIR4780', 'score': 0.26}]
chr2 GH02I088121 88121634 88123083 0.62 [{'connected_gene': 'THNSL2', 'score': 11.47}, {'connected_gene': 'FABP1', 'score': 6.81}, {'connected_gene': 'MIR4780', 'score': 0.28}]
chr2 GH02I088169 88169639 88171376 1.52 [{'connected_gene': 'THNSL2', 'score': 629.54}, {'connected_gene': 'LOC101928347', 'score': 550.77}, {'connected_gene': 'FABP1', 'score': 17.77}]
chr2 GH02I088125 88125626 88132346 1.64 [{'connected_gene': 'FABP1', 'score': 586.12}, {'connected_gene': 'THNSL2', 'score': 33.84}, {'connected_gene': 'KRCC1', 'score': 9.87}, {'connected_gene': 'GC02P088146', 'score': 0.37}]
chr2 GH02I088074 88074255 88075673 0.97 [{'connected_gene': 'FABP1', 'score': 15.88}, {'connected_gene': 'THNSL2', 'score': 11.41}, {'connected_gene': 'SMYD1', 'score': 4.43}, {'connected_gene': 'MIR4780', 'score': 0.44}]
chr2 GH02I088066 88066229 88069832 1.13 [{'connected_gene': 'SMYD1', 'score': 556.94}, {'connected_gene': 'GC02M088051', 'score': 550.77}, {'connected_gene': 'FABP1', 'score': 11.56}, {'connected_gene': 'THNSL2', 'score': 11.41}, {'connected_gene': 'MIR4780', 'score': 0.39}]
chr2 GH02I088144 88144086 88147117 0.89 [{'connected_gene': 'GC02P088146', 'score': 550.77}, {'connected_gene': 'THNSL2', 'score': 38.08}, {'connected_gene': 'FABP1', 'score': 20.04}, {'connected_gene': 'KRCC1', 'score': 11.09}, {'connected_gene': 'LOC101928347', 'score': 0.34}]