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
ENST00000470680 [[138666075, 138666306], [138668353, 138668481], [138669106, 138669721]] [[138666206, 138666306], [138668353, 138668379]]
ENST00000383165 [[138666075, 138666306], [138668361, 138668481], [138669106, 138672293]] [[138666206, 138666306], [138668361, 138668481], [138669106, 138669414]]
ENST00000498709 [[138666453, 138666849], [138668353, 138669670]] None
NM_001040061 [[138666075, 138666306], [138668361, 138668481], [138669106, 138672830]] [[138666206, 138666306], [138668361, 138668481], [138669106, 138669414]]
Promoter
Chrom Start End Description
chr3 138666052 138666066 CAGE_peak_2_at_C3orf72_5end
chr3 138666070 138666100 CAGE_peak_1_at_C3orf72_5end
chr3 138666102 138666138 CAGE_peak_3_at_C3orf72_5end
chr3 138666175 138666186 CAGE_peak_5_at_C3orf72_5end
chr3 138666453 138666470 CAGE_peak_4_at_C3orf72_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I138914 138914602 138917108 1.52 [{'connected_gene': 'CEP70', 'score': 12.25}, {'connected_gene': 'PIK3CB', 'score': 11.52}, {'connected_gene': 'FAIM', 'score': 11.23}, {'connected_gene': 'LINC01391', 'score': 11.21}, {'connected_gene': 'FOXL2NB', 'score': 11.2}, {'connected_gene': 'FOXL2', 'score': 11.2}, {'connected_gene': 'ATP5MC1P3', 'score': 0.31}]
chr3 GH03I138956 138955735 138955938 0.2 [{'connected_gene': 'FAIM', 'score': 9.67}, {'connected_gene': 'FOXL2NB', 'score': 0.44}, {'connected_gene': 'MRPS22', 'score': 0.25}]
chr3 GH03I138955 138955062 138955450 0.2 [{'connected_gene': 'FAIM', 'score': 9.67}, {'connected_gene': 'FOXL2NB', 'score': 0.44}, {'connected_gene': 'MRPS22', 'score': 0.23}]
chr3 GH03I139297 139297238 139304799 1.67 [{'connected_gene': 'FOXL2NB', 'score': 1.91}, {'connected_gene': 'FOXL2', 'score': 1.76}, {'connected_gene': 'PIR46128', 'score': 0.29}, {'connected_gene': 'ENSG00000272656', 'score': 0.25}, {'connected_gene': 'MRPS22', 'score': 0.06}]
chr3 GH03I138952 138952211 138952410 0.31 [{'connected_gene': 'FOXL2NB', 'score': 0.44}, {'connected_gene': 'MRPS22', 'score': 0.23}]
chr3 GH03I138948 138948722 138949648 0.72 [{'connected_gene': 'FOXL2NB', 'score': 550.77}, {'connected_gene': 'MRPS22', 'score': 0.22}]
chr3 GH03I138960 138960299 138960568 0.31 [{'connected_gene': 'FOXL2NB', 'score': 0.39}, {'connected_gene': 'MRPS22', 'score': 0.25}]
chr3 GH03I138950 138950219 138950368 0.63 [{'connected_gene': 'FOXL2NB', 'score': 0.77}, {'connected_gene': 'MRPS22', 'score': 0.22}]
chr3 GH03I138942 138942217 138948361 1.83 [{'connected_gene': 'FOXL2NB', 'score': 550.77}, {'connected_gene': 'LINC01391', 'score': 550.77}, {'connected_gene': 'FOXL2', 'score': 550.77}, {'connected_gene': 'DBR1', 'score': 28.08}, {'connected_gene': 'DZIP1L', 'score': 25.48}, {'connected_gene': 'ENSG00000272656', 'score': 11.16}, {'connected_gene': 'CEP70', 'score': 10.28}, {'connected_gene': 'ACTG1P1', 'score': 9.79}, {'connected_gene': 'COPB2', 'score': 9.67}, {'connected_gene': 'MRAS', 'score': 6.41}]
chr3 GH03I138923 138923539 138923801 0.95 [{'connected_gene': 'LINC01391', 'score': 11.62}, {'connected_gene': 'FOXL2NB', 'score': 11.62}, {'connected_gene': 'FOXL2', 'score': 11.62}, {'connected_gene': 'CEP70', 'score': 11.39}, {'connected_gene': 'FAIM', 'score': 10.89}, {'connected_gene': 'ATP5MC1P3', 'score': 0.29}]