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
ENST00000303254 [[88824168, 88824300], [88825152, 88825189], [88825922, 88826015], [88828569, 88829102]] [[88825162, 88825189], [88825922, 88826015], [88828569, 88828992]]
NM_152670 [[88824168, 88824300], [88825152, 88825189], [88825922, 88826015], [88828569, 88829103]] [[88825162, 88825189], [88825922, 88826015], [88828569, 88828992]]
Promoter
Chrom Start End Description
chr2 88824161 88824202 CAGE_peak_1_at_C2orf51_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I088605 88605321 88610258 0.95 [{'connected_gene': 'ANKRD36BP2', 'score': 13.35}, {'connected_gene': 'RPIA', 'score': 11.08}, {'connected_gene': 'TEX37', 'score': 8.86}, {'connected_gene': 'EIF2AK3', 'score': 4.57}, {'connected_gene': 'LOC101928403', 'score': 0.37}, {'connected_gene': 'GC02P088558', 'score': 0.25}]
chr2 GH02I088690 88690164 88693064 2.08 [{'connected_gene': 'RPIA', 'score': 558.46}, {'connected_gene': 'LOC102724805', 'score': 550.77}, {'connected_gene': 'ANKRD36BP2', 'score': 20.81}, {'connected_gene': 'TEX37', 'score': 4.92}, {'connected_gene': 'EIF2AK3', 'score': 3.98}]
chr2 GH02I088503 88503557 88503955 0.53 [{'connected_gene': 'TEX37', 'score': 12.92}, {'connected_gene': 'EIF2AK3', 'score': 4.13}, {'connected_gene': 'FOXI3', 'score': 3.21}, {'connected_gene': 'PIR49195', 'score': 0.39}, {'connected_gene': 'GC02M088487', 'score': 0.37}]
chr2 GH02I088549 88549490 88550446 0.72 [{'connected_gene': 'TEX37', 'score': 33.95}, {'connected_gene': 'ANKRD36BP2', 'score': 5.79}, {'connected_gene': 'GC02P088558', 'score': 0.44}, {'connected_gene': 'LOC101928371', 'score': 0.39}]
chr2 GH02I088442 88442408 88444697 0.56 [{'connected_gene': 'TEX37', 'score': 18.23}, {'connected_gene': 'RNU6-1007P', 'score': 12.13}, {'connected_gene': 'LOC101928403', 'score': 5.67}, {'connected_gene': 'FOXI3', 'score': 0.44}, {'connected_gene': 'ENSG00000224291', 'score': 0.37}]
chr2 GH02I088524 88524600 88524659 0.5 [{'connected_gene': 'TEX37', 'score': 550.77}, {'connected_gene': 'LOC101928371', 'score': 0.39}]
chr2 GH02I088291 88291048 88291369 0.34 [{'connected_gene': 'TEX37', 'score': 47.78}, {'connected_gene': 'GC02P088321', 'score': 0.29}, {'connected_gene': 'GC02M088230', 'score': 0.21}, {'connected_gene': 'RNY4P15', 'score': 0.21}]
chr2 GH02I088625 88625800 88629643 2.3 [{'connected_gene': 'LOC101928403', 'score': 563.1}, {'connected_gene': 'EIF2AK3', 'score': 550.77}, {'connected_gene': 'LOC730268', 'score': 23.04}, {'connected_gene': 'RPIA', 'score': 20.48}, {'connected_gene': 'TEX37', 'score': 8.63}, {'connected_gene': 'ANKRD36BP2', 'score': 4.48}, {'connected_gene': 'GC02M088650', 'score': 0.34}]
chr2 GH02I088537 88537311 88539473 0.43 [{'connected_gene': 'LOC101928371', 'score': 550.77}, {'connected_gene': 'TEX37', 'score': 10.56}]
chr2 GH02I088517 88517983 88518132 0.38 [{'connected_gene': 'PIR49195', 'score': 550.77}, {'connected_gene': 'LOC101928371', 'score': 11.74}, {'connected_gene': 'TEX37', 'score': 0.44}]