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
ENST00000306954 [[93669238, 93670127], [93673174, 93673439]] [[93670032, 93670127], [93673174, 93673382]]
ENST00000556566 [[93669850, 93670127], [93673253, 93673374]] [[93670010, 93670127], [93673253, 93673374]]
NM_032490 [[93669236, 93670127], [93673174, 93673459]] [[93670032, 93670127], [93673174, 93673382]]
Promoter
Chrom Start End Description
chr14 93673333 93673346 CAGE_peak_3_at_C14orf142_5end
chr14 93673353 93673446 CAGE_peak_1_at_C14orf142_5end
chr14 93673461 93673484 CAGE_peak_2_at_C14orf142_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I093205 93205662 93208669 2.07 [{'connected_gene': 'GON7', 'score': 557.94}, {'connected_gene': 'UBR7', 'score': 550.77}, {'connected_gene': 'BTBD7', 'score': 25.8}, {'connected_gene': 'TMEM251', 'score': 12.76}, {'connected_gene': 'MOAP1', 'score': 12.76}, {'connected_gene': 'ENSG00000240096', 'score': 0.37}, {'connected_gene': 'ENSG00000259066', 'score': 0.34}]
chr14 GH14I092844 92844224 92844470 0.48 [{'connected_gene': 'TMEM251', 'score': 28.98}, {'connected_gene': 'UNC79', 'score': 6.3}, {'connected_gene': 'RIN3', 'score': 5.34}, {'connected_gene': 'MOAP1', 'score': 2.76}, {'connected_gene': 'BTBD7', 'score': 2.33}, {'connected_gene': 'GON7', 'score': 1.59}, {'connected_gene': 'GC14P092879', 'score': 0.29}, {'connected_gene': 'GC14P092880', 'score': 0.29}, {'connected_gene': 'GC14P092878', 'score': 0.29}, {'connected_gene': 'PIR36925', 'score': 0.29}, {'connected_gene': 'GOLGA5', 'score': 0.23}, {'connected_gene': 'GC14P092353', 'score': 0.04}]
chr14 GH14I092862 92862475 92862664 0.4 [{'connected_gene': 'TMEM251', 'score': 27.38}, {'connected_gene': 'UNC79', 'score': 5.33}, {'connected_gene': 'MOAP1', 'score': 3.63}, {'connected_gene': 'RIN3', 'score': 3.34}, {'connected_gene': 'BTBD7', 'score': 2.1}, {'connected_gene': 'GON7', 'score': 1.86}, {'connected_gene': 'GC14P092879', 'score': 0.39}, {'connected_gene': 'GC14P092880', 'score': 0.39}, {'connected_gene': 'GC14P092878', 'score': 0.39}, {'connected_gene': 'PIR36925', 'score': 0.39}, {'connected_gene': 'GOLGA5', 'score': 0.2}, {'connected_gene': 'GC14P092353', 'score': 0.03}]
chr14 GH14I092866 92866311 92866569 0.4 [{'connected_gene': 'TMEM251', 'score': 23.43}, {'connected_gene': 'BTBD7', 'score': 12.1}, {'connected_gene': 'TRIP11', 'score': 10.73}, {'connected_gene': 'UNC79', 'score': 4.08}, {'connected_gene': 'MOAP1', 'score': 3.79}, {'connected_gene': 'RIN3', 'score': 3.22}, {'connected_gene': 'GON7', 'score': 1.88}, {'connected_gene': 'GC14P092879', 'score': 0.39}, {'connected_gene': 'GC14P092880', 'score': 0.39}, {'connected_gene': 'GC14P092878', 'score': 0.39}, {'connected_gene': 'PIR36925', 'score': 0.39}, {'connected_gene': 'GOLGA5', 'score': 0.19}, {'connected_gene': 'GC14P092353', 'score': 0.03}]
chr14 GH14I092784 92784940 92786813 1.16 [{'connected_gene': 'TMEM251', 'score': 9.55}, {'connected_gene': 'GOLGA5', 'score': 5.47}, {'connected_gene': 'CPSF2', 'score': 5.04}, {'connected_gene': 'SLC24A4', 'score': 3.16}, {'connected_gene': 'MOAP1', 'score': 1.72}, {'connected_gene': 'RIN3', 'score': 1.58}, {'connected_gene': 'GON7', 'score': 1.17}, {'connected_gene': 'LGMN', 'score': 0.28}, {'connected_gene': 'GC14P092353', 'score': 0.04}]
chr14 GH14I092723 92723409 92727272 1.34 [{'connected_gene': 'TMEM251', 'score': 26.67}, {'connected_gene': 'SLC24A4', 'score': 9.94}, {'connected_gene': 'RIN3', 'score': 7.81}, {'connected_gene': 'MOAP1', 'score': 3.84}, {'connected_gene': 'GON7', 'score': 1.85}, {'connected_gene': 'LGMN', 'score': 0.34}, {'connected_gene': 'GC14P092700', 'score': 0.31}, {'connected_gene': 'GC14P092353', 'score': 0.05}]
chr14 GH14I092846 92846400 92847800 1.36 [{'connected_gene': 'TMEM251', 'score': 35.85}, {'connected_gene': 'CHGA', 'score': 11.46}, {'connected_gene': 'UNC79', 'score': 6.67}, {'connected_gene': 'RIN3', 'score': 5.24}, {'connected_gene': 'MOAP1', 'score': 3.8}, {'connected_gene': 'BTBD7', 'score': 2.75}, {'connected_gene': 'GON7', 'score': 1.73}, {'connected_gene': 'GC14P092879', 'score': 0.29}, {'connected_gene': 'GC14P092880', 'score': 0.29}, {'connected_gene': 'GC14P092878', 'score': 0.29}, {'connected_gene': 'PIR36925', 'score': 0.29}, {'connected_gene': 'GOLGA5', 'score': 0.23}, {'connected_gene': 'GC14P092353', 'score': 0.04}]
chr14 GH14I093219 93219255 93219384 0.57 [{'connected_gene': 'ENSG00000240096', 'score': 0.77}, {'connected_gene': 'GON7', 'score': 0.39}, {'connected_gene': 'UBR7', 'score': 0.39}]