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
ENST00000356438 [[125753508, 125753912], [125761317, 125761367], [125768998, 125769053], [125769238, 125770539]] [[125769263, 125770163]]
ENST00000425380 [[125756954, 125757660], [125761317, 125761367], [125769238, 125770543]] [[125769263, 125770163]]
ENST00000526028 [[125757676, 125758155], [125761317, 125761367], [125769238, 125770512]] [[125769263, 125770163]]
NM_145014 [[125753508, 125753912], [125761317, 125761367], [125768998, 125769053], [125769238, 125770541]] [[125769263, 125770163]]
NM_001134793 [[125756954, 125757660], [125761317, 125761367], [125769238, 125770541]] [[125769263, 125770163]]
Promoter
Chrom Start End Description
chr11 125757510 125757519 CAGE_peak_3_at_HYLS1_5end
chr11 125757556 125757620 CAGE_peak_1_at_HYLS1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I125890 125890168 125891271 0.67 [{'connected_gene': 'RPUSD4', 'score': 10.53}, {'connected_gene': 'PUS3', 'score': 7.29}, {'connected_gene': 'CHEK1', 'score': 6.12}, {'connected_gene': 'PIR58536', 'score': 0.77}, {'connected_gene': 'GC11P125889', 'score': 0.77}, {'connected_gene': 'PIR36090', 'score': 0.44}, {'connected_gene': 'HYLS1', 'score': 0.44}]
chr11 GH11I126317 126317184 126320389 1.34 [{'connected_gene': 'FOXRED1', 'score': 48.76}, {'connected_gene': 'ST3GAL4', 'score': 12.36}, {'connected_gene': 'TIRAP', 'score': 12.16}, {'connected_gene': 'ENSG00000254694', 'score': 10.88}, {'connected_gene': 'SRPRA', 'score': 10.37}, {'connected_gene': 'DCPS', 'score': 6.32}, {'connected_gene': 'FAM118B', 'score': 4.61}, {'connected_gene': 'HYLS1', 'score': 1.24}, {'connected_gene': 'HP11014', 'score': 0.39}, {'connected_gene': 'PIR55528', 'score': 0.34}]
chr11 GH11I125800 125800186 125800572 0.39 [{'connected_gene': 'DDX25', 'score': 38.66}, {'connected_gene': 'CHEK1', 'score': 7.78}, {'connected_gene': 'PATE4', 'score': 6.09}, {'connected_gene': 'HYLS1', 'score': 5.8}, {'connected_gene': 'PATE1', 'score': 3.58}, {'connected_gene': 'PATE2', 'score': 2.39}, {'connected_gene': 'GC11P125812', 'score': 0.39}, {'connected_gene': 'PATE3', 'score': 0.39}]
chr11 GH11I126305 126305605 126306106 0.88 [{'connected_gene': 'HP11014', 'score': 550.77}, {'connected_gene': 'FOXRED1', 'score': 39.48}, {'connected_gene': 'FAM118B', 'score': 26.98}, {'connected_gene': 'DCPS', 'score': 2.25}, {'connected_gene': 'HYLS1', 'score': 1.41}, {'connected_gene': 'PIR55528', 'score': 0.29}]
chr11 GH11I125874 125874626 125874775 0.66 [{'connected_gene': 'ENSG00000260209', 'score': 550.77}, {'connected_gene': 'PUS3', 'score': 10.48}, {'connected_gene': 'DDX25', 'score': 10.48}, {'connected_gene': 'PATE4', 'score': 10.09}, {'connected_gene': 'CHEK1', 'score': 6.43}, {'connected_gene': 'HYLS1', 'score': 0.44}]
chr11 GH11I125886 125886706 125888810 2.01 [{'connected_gene': 'GC11P125889', 'score': 550.77}, {'connected_gene': 'HYLS1', 'score': 550.77}, {'connected_gene': 'PIR58536', 'score': 550.77}, {'connected_gene': 'HP11014', 'score': 10.98}, {'connected_gene': 'TMEM218', 'score': 10.3}, {'connected_gene': 'STT3A', 'score': 9.96}, {'connected_gene': 'DDX25', 'score': 6.36}, {'connected_gene': 'CHEK1', 'score': 6.36}, {'connected_gene': 'PUS3', 'score': 4.62}, {'connected_gene': 'PIR36090', 'score': 0.39}]