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
ENST00000370996 [[58511893, 58515352]] [[58514086, 58514986]]
NM_006242 [[58511886, 58515352]] [[58514086, 58514986]]
Promoter
Chrom Start End Description
chr20 58515284 58515311 CAGE_peak_2_at_PPP1R3D_5end
chr20 58515344 58515366 CAGE_peak_1_at_PPP1R3D_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr20 GH20I059876 59876366 59876732 0.22 [{'connected_gene': 'FAM217B', 'score': 12.76}, {'connected_gene': 'SYCP2', 'score': 7.79}, {'connected_gene': 'PPP1R3D', 'score': 1.93}, {'connected_gene': 'RNU7-141P', 'score': 0.34}]
chr20 GH20I059950 59950006 59950155 0.62 [{'connected_gene': 'CDH26', 'score': 0.44}, {'connected_gene': 'PPP1R3D', 'score': 0.44}]
chr20 GH20I059955 59955366 59955435 0.76 [{'connected_gene': 'CDH26', 'score': 550.77}, {'connected_gene': 'C20orf197', 'score': 10.95}, {'connected_gene': 'PPP1R3D', 'score': 0.37}]
chr20 GH20I059954 59954644 59955340 0.77 [{'connected_gene': 'CDH26', 'score': 550.77}, {'connected_gene': 'C20orf197', 'score': 10.95}, {'connected_gene': 'PPP1R3D', 'score': 0.39}]
chr20 GH20I059938 59938318 59942302 2.07 [{'connected_gene': 'PPP1R3D', 'score': 550.77}, {'connected_gene': 'FAM217B', 'score': 550.44}, {'connected_gene': 'NELFCD', 'score': 34.84}, {'connected_gene': 'CDH26', 'score': 0.37}]
chr20 GH20I060059 60059962 60061545 0.97 [{'connected_gene': 'PPP1R3D', 'score': 9.38}, {'connected_gene': 'C20orf197', 'score': 8.7}, {'connected_gene': 'ENSG00000276093', 'score': 0.34}]
chr20 GH20I059948 59948202 59949599 0.84 [{'connected_gene': 'C20orf197', 'score': 11.56}, {'connected_gene': 'CDH26', 'score': 0.44}, {'connected_gene': 'PPP1R3D', 'score': 0.44}, {'connected_gene': 'FAM217B', 'score': 0.37}]
chr20 GH20I060105 60105001 60105800 1.01 [{'connected_gene': 'C20orf197', 'score': 7.69}, {'connected_gene': 'PPP1R3D', 'score': 2.62}, {'connected_gene': 'FAM217B', 'score': 2.25}, {'connected_gene': 'CDH26', 'score': 1.2}, {'connected_gene': 'MIR646HG', 'score': 0.37}, {'connected_gene': 'PIR59955', 'score': 0.12}]
chr20 GH20I060228 60228366 60228599 0.71 [{'connected_gene': 'C20orf197', 'score': 12.01}, {'connected_gene': 'PPP1R3D', 'score': 4.89}, {'connected_gene': 'FAM217B', 'score': 3.61}, {'connected_gene': 'PIR59955', 'score': 0.39}, {'connected_gene': 'MIR646HG', 'score': 0.11}]
chr20 GH20I060045 60045801 60047320 1.29 [{'connected_gene': 'C20orf197', 'score': 9.34}, {'connected_gene': 'PPP1R3D', 'score': 4.18}, {'connected_gene': 'FAM217B', 'score': 1.95}, {'connected_gene': 'PHACTR3', 'score': 1.72}, {'connected_gene': 'CDH26', 'score': 0.16}]
chr20 GH20I060054 60054522 60059373 1.56 [{'connected_gene': 'C20orf197', 'score': 569.29}, {'connected_gene': 'PPP1R3D', 'score': 10.83}, {'connected_gene': 'FAM217B', 'score': 4.5}, {'connected_gene': 'SYCP2', 'score': 2.02}, {'connected_gene': 'ENSG00000276093', 'score': 0.31}]
chr20 GH20I060008 60008523 60008804 0.5 [{'connected_gene': 'C20orf197', 'score': 14.7}, {'connected_gene': 'PPP1R3D', 'score': 1.4}, {'connected_gene': 'CDH26', 'score': 0.23}]
chr20 GH20I059933 59933400 59934755 1.97 [{'connected_gene': 'SYCP2', 'score': 550.77}, {'connected_gene': 'FAM217B', 'score': 550.77}, {'connected_gene': 'NELFCD', 'score': 14.58}, {'connected_gene': 'PPP1R3D', 'score': 0.44}]