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
ENST00000238831 [[32502978, 32503303], [32515551, 32515705], [32517245, 32517417], [32523302, 32523380], [32526450, 32526564], [32530557, 32541663]] [[32503224, 32503303], [32515551, 32515705], [32517245, 32517417], [32523302, 32523380], [32526450, 32526564], [32530557, 32530695]]
ENST00000495355 [[32503197, 32503303], [32515551, 32515989]] None
ENST00000437765 [[32503299, 32503303], [32515551, 32515705], [32523302, 32523380], [32526450, 32526564], [32530557, 32530935]] [[32503299, 32503303], [32515551, 32515705], [32523302, 32523321]]
ENST00000441084 [[32526511, 32526564], [32532172, 32532431]] [[32526511, 32526564], [32532172, 32532220]]
NM_032312 [[32502957, 32503303], [32515551, 32515705], [32517245, 32517417], [32523302, 32523380], [32526450, 32526564], [32530557, 32531658]] [[32503224, 32503303], [32515551, 32515705], [32517245, 32517417], [32523302, 32523380], [32526450, 32526564], [32530557, 32530695]]
Promoter
Chrom Start End Description
chr2 32502952 32503025 CAGE_peak_1_at_YIPF4_5end
chr2 32503279 32503295 CAGE_peak_6_at_YIPF4_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I032277 32277072 32279201 2.03 [{'connected_gene': 'YIPF4', 'score': 550.77}, {'connected_gene': 'SLC30A6', 'score': 21.45}, {'connected_gene': 'BIRC6', 'score': 19.96}, {'connected_gene': 'TTC27', 'score': 15.14}, {'connected_gene': 'DDX50P1', 'score': 14.91}, {'connected_gene': 'RNU6-647P', 'score': 10.56}, {'connected_gene': 'NLRC4', 'score': 4.71}, {'connected_gene': 'ENSG00000272754', 'score': 0.26}]
chr2 GH02I032279 32279601 32279800 0.2 [{'connected_gene': 'YIPF4', 'score': 550.77}, {'connected_gene': 'SLC30A6', 'score': 9.69}, {'connected_gene': 'ENSG00000272754', 'score': 0.26}]
chr2 GH02I032328 32328171 32330420 0.91 [{'connected_gene': 'YIPF4', 'score': 13.04}, {'connected_gene': 'TTC27', 'score': 7.25}, {'connected_gene': 'ENSG00000272754', 'score': 0.44}, {'connected_gene': 'BIRC6', 'score': 0.31}]
chr2 GH02I031381 31381455 31386814 1.15 [{'connected_gene': 'XDH', 'score': 10.03}, {'connected_gene': 'YIPF4', 'score': 4.17}, {'connected_gene': 'GC02M031380', 'score': 0.77}, {'connected_gene': 'PIR52882', 'score': 0.77}, {'connected_gene': 'GC02M031395', 'score': 0.34}]
chr2 GH02I032266 32266401 32266600 0.2 [{'connected_gene': 'NLRC4', 'score': 550.77}, {'connected_gene': 'YIPF4', 'score': 0.39}]
chr2 GH02I032288 32288202 32290600 1.07 [{'connected_gene': 'BIRC6', 'score': 29.2}, {'connected_gene': 'NLRC4', 'score': 16.74}, {'connected_gene': 'DDX50P1', 'score': 16.55}, {'connected_gene': 'TTC27', 'score': 15.83}, {'connected_gene': 'SLC30A6', 'score': 11.91}, {'connected_gene': 'YIPF4', 'score': 11.18}, {'connected_gene': 'RNU6-647P', 'score': 10.87}, {'connected_gene': 'MIR558', 'score': 9.72}, {'connected_gene': 'ENSG00000272754', 'score': 0.29}]
chr2 GH02I032824 32824716 32825487 0.7 [{'connected_gene': 'LINC00486', 'score': 550.77}, {'connected_gene': 'BIRC6', 'score': 18.05}, {'connected_gene': 'YIPF4', 'score': 11.69}, {'connected_gene': 'GC02M032770', 'score': 0.23}]
chr2 GH02I032284 32284201 32284801 0.31 [{'connected_gene': 'RNU6-647P', 'score': 10.47}, {'connected_gene': 'BIRC6', 'score': 10.08}, {'connected_gene': 'TTC27', 'score': 4.75}, {'connected_gene': 'YIPF4', 'score': 0.44}, {'connected_gene': 'ENSG00000272754', 'score': 0.28}]
chr2 GH02I031378 31378148 31379764 0.8 [{'connected_gene': 'GC02M031380', 'score': 550.77}, {'connected_gene': 'PIR52882', 'score': 550.77}, {'connected_gene': 'YIPF4', 'score': 4.52}, {'connected_gene': 'XDH', 'score': 0.28}, {'connected_gene': 'GC02P031291', 'score': 0.17}]