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
ENST00000236709 [[137842559, 137843720], [137849690, 137850124], [137851053, 137851229]] [[137843105, 137843720], [137849690, 137850098]]
NM_016161 [[137842559, 137843720], [137849690, 137850124], [137851053, 137851229]] [[137843105, 137843720], [137849690, 137850098]]
Promoter
Chrom Start End Description
chr3 137851220 137851236 CAGE_peak_1_at_A4GNT_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I138888 138888402 138892199 1.22 [{'connected_gene': 'ATP5MC1P3', 'score': 550.77}, {'connected_gene': 'PIK3CB', 'score': 21.3}, {'connected_gene': 'CEP70', 'score': 10.38}, {'connected_gene': 'FAIM', 'score': 8.62}, {'connected_gene': 'A4GNT', 'score': 4.5}, {'connected_gene': 'LINC01391', 'score': 0.23}]
chr3 GH03I138860 138860777 138864579 1.73 [{'connected_gene': 'DBR1', 'score': 10.5}, {'connected_gene': 'COPB2', 'score': 10.28}, {'connected_gene': 'PIK3CB', 'score': 8.62}, {'connected_gene': 'FAIM', 'score': 8.15}, {'connected_gene': 'A4GNT', 'score': 4.47}, {'connected_gene': 'MRPS22', 'score': 2.34}, {'connected_gene': 'ATP5MC1P3', 'score': 0.31}]
chr3 GH03I138173 138173625 138175508 2.02 [{'connected_gene': 'DBR1', 'score': 569.05}, {'connected_gene': 'A4GNT', 'score': 38.45}]
chr3 GH03I138172 138172801 138173000 0.2 [{'connected_gene': 'DBR1', 'score': 0.77}, {'connected_gene': 'A4GNT', 'score': 0.26}]
chr3 GH03I138132 138132380 138132439 0.5 [{'connected_gene': 'A4GNT', 'score': 550.77}, {'connected_gene': 'DBR1', 'score': 0.26}]
chr3 GH03I138135 138135001 138137600 0.31 [{'connected_gene': 'A4GNT', 'score': 50.89}, {'connected_gene': 'DBR1', 'score': 7.1}]
chr3 GH03I138080 138080772 138084322 1.1 [{'connected_gene': 'A4GNT', 'score': 12.76}, {'connected_gene': 'DZIP1L', 'score': 12.19}, {'connected_gene': 'MRAS', 'score': 6.22}, {'connected_gene': 'LOC105374128', 'score': 0.34}, {'connected_gene': 'KRT8P36', 'score': 0.34}]
chr3 GH03I138077 138077554 138080071 0.74 [{'connected_gene': 'A4GNT', 'score': 11.84}, {'connected_gene': 'DZIP1L', 'score': 11.81}, {'connected_gene': 'LOC105374128', 'score': 0.34}, {'connected_gene': 'KRT8P36', 'score': 0.34}]
chr3 GH03I138124 138124591 138126641 0.77 [{'connected_gene': 'A4GNT', 'score': 40.23}, {'connected_gene': 'DZIP1L', 'score': 0.44}]
chr3 GH03I138088 138088731 138090057 0.38 [{'connected_gene': 'A4GNT', 'score': 13.31}, {'connected_gene': 'KRT8P36', 'score': 0.39}, {'connected_gene': 'DZIP1L', 'score': 0.31}, {'connected_gene': 'LOC105374128', 'score': 0.29}]
chr3 GH03I138326 138326145 138330508 2.06 [{'connected_gene': 'NME9', 'score': 550.77}, {'connected_gene': 'A4GNT', 'score': 3.95}, {'connected_gene': 'GC03P138286', 'score': 0.26}]
chr3 GH03I138186 138186259 138189296 2.04 [{'connected_gene': 'ARMC8', 'score': 550.77}, {'connected_gene': 'MRAS', 'score': 12.2}, {'connected_gene': 'CEP70', 'score': 11.64}, {'connected_gene': 'A4GNT', 'score': 4.1}, {'connected_gene': 'GC03P138286', 'score': 0.15}]
chr3 GH03I138118 138118800 138119148 0.83 [{'connected_gene': 'MRAS', 'score': 6.91}, {'connected_gene': 'DZIP1L', 'score': 0.77}, {'connected_gene': 'A4GNT', 'score': 0.39}]
chr3 GH03I138112 138112074 138116472 1.84 [{'connected_gene': 'DZIP1L', 'score': 550.77}, {'connected_gene': 'PIR46402', 'score': 550.77}, {'connected_gene': 'A4GNT', 'score': 27.26}, {'connected_gene': 'KRT8P36', 'score': 0.39}]