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
ENST00000287777 [[42727010, 42728262], [42729633, 42729794], [42730101, 42730209], [42730360, 42730546], [42732350, 42732497], [42733373, 42734036]] [[42727110, 42728262], [42729633, 42729794], [42730101, 42730209], [42730360, 42730546], [42732350, 42732497], [42733373, 42733485]]
NM_152393 [[42727010, 42728262], [42729633, 42729794], [42730101, 42730209], [42730360, 42730546], [42732350, 42732497], [42733373, 42733938]] [[42727110, 42728262], [42729633, 42729794], [42730101, 42730209], [42730360, 42730546], [42732350, 42732497], [42733373, 42733485]]
Promoter
Chrom Start End Description
chr3 42727027 42727034 CAGE_peak_1_at_KBTBD5_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I042695 42695270 42695864 0.47 [{'connected_gene': 'HHATL', 'score': 19.42}, {'connected_gene': 'CCDC13-AS1', 'score': 17.79}, {'connected_gene': 'CCDC13', 'score': 10.25}, {'connected_gene': 'FAM198A', 'score': 2.98}, {'connected_gene': 'ZNF662', 'score': 2.54}, {'connected_gene': 'KLHL40', 'score': 1.92}, {'connected_gene': 'HHATL-AS1', 'score': 0.44}]
chr3 GH03I042700 42700958 42703464 1.77 [{'connected_gene': 'HHATL', 'score': 559.4}, {'connected_gene': 'HHATL-AS1', 'score': 550.77}, {'connected_gene': 'NKTR', 'score': 19.79}, {'connected_gene': 'ZNF662', 'score': 16.59}, {'connected_gene': 'SNRK-AS1', 'score': 10.47}, {'connected_gene': 'KLHL40', 'score': 0.37}, {'connected_gene': 'CCDC13', 'score': 0.19}]
chr3 GH03I042689 42689916 42694645 0.38 [{'connected_gene': 'CCDC13', 'score': 21.25}, {'connected_gene': 'CCDC13-AS1', 'score': 18.17}, {'connected_gene': 'HHATL', 'score': 7.18}, {'connected_gene': 'NKTR', 'score': 5.22}, {'connected_gene': 'HIGD1A', 'score': 4.45}, {'connected_gene': 'KLHL40', 'score': 0.44}, {'connected_gene': 'HHATL-AS1', 'score': 0.39}]
chr3 GH03I042682 42682661 42687616 1.98 [{'connected_gene': 'KLHL40', 'score': 550.77}, {'connected_gene': 'SEC22C', 'score': 24.82}, {'connected_gene': 'HHATL', 'score': 7.0}, {'connected_gene': 'LYZL4', 'score': 6.86}, {'connected_gene': 'NKTR', 'score': 6.61}, {'connected_gene': 'CCDC13', 'score': 5.45}, {'connected_gene': 'CCK', 'score': 4.28}, {'connected_gene': 'KRBOX1', 'score': 3.4}, {'connected_gene': 'RN7SL567P', 'score': 0.44}]