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
ENST00000380725 [[2904442, 2905145], [2905228, 2905364], [2906431, 2906696], [2906863, 2906979]] [[2905140, 2905145], [2905228, 2905364], [2906431, 2906686]]
ENST00000414822 [[2904442, 2905145], [2905228, 2905364], [2905899, 2907111]] [[2905233, 2905364], [2905899, 2906719]]
ENST00000440480 [[2904447, 2905145], [2905228, 2905364], [2905899, 2906696], [2906863, 2907043]] [[2905233, 2905364], [2905899, 2906686]]
ENST00000313407 [[2904460, 2905140], [2905228, 2905364], [2905899, 2906696], [2906863, 2906995]] [[2905233, 2905364], [2905899, 2906686]]
ENST00000430149 [[2904808, 2905140], [2905228, 2905364], [2905899, 2907001]] [[2905233, 2905364], [2905899, 2906719]]
ENST00000471157 [[2904904, 2905145], [2905228, 2905931]] None
NM_000076 [[2904447, 2905145], [2905228, 2905364], [2905899, 2906995]] [[2905233, 2905364], [2905899, 2906719]]
NM_001122630 [[2904447, 2905145], [2905228, 2905364], [2905899, 2906696], [2906863, 2906995]] [[2905233, 2905364], [2905899, 2906686]]
NM_001122631 [[2904447, 2905140], [2905228, 2905364], [2905899, 2906696], [2906863, 2906995]] [[2905233, 2905364], [2905899, 2906686]]
Promoter
Chrom Start End Description
chr11 2905495 2905540 CAGE_peak_2_at_CDKN1C_5end
chr11 2906995 2907013 CAGE_peak_1_at_CDKN1C_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I002897 2897803 2900400 2.1 [{'connected_gene': 'SLC22A18', 'score': 565.19}, {'connected_gene': 'KCNQ1', 'score': 5.35}, {'connected_gene': 'TRPC2', 'score': 4.7}, {'connected_gene': 'SLC22A18AS', 'score': 0.77}, {'connected_gene': 'CDKN1C', 'score': 0.39}]
chr11 GH11I002889 2889110 2893537 1.39 [{'connected_gene': 'NUP98', 'score': 15.66}, {'connected_gene': 'TSSC4', 'score': 11.32}, {'connected_gene': 'NAP1L4', 'score': 4.77}, {'connected_gene': 'CDKN1C', 'score': 0.44}, {'connected_gene': 'SLC22A18', 'score': 0.44}, {'connected_gene': 'SLC22A18AS', 'score': 0.39}]
chr11 GH11I002777 2777041 2782316 1.61 [{'connected_gene': 'KCNQ1-AS1', 'score': 11.85}, {'connected_gene': 'KCNQ1DN', 'score': 11.83}, {'connected_gene': 'KCNQ1', 'score': 3.59}, {'connected_gene': 'CDKN1C', 'score': 1.81}, {'connected_gene': 'COX6CP18', 'score': 0.44}]
chr11 GH11I002824 2824316 2827742 1.59 [{'connected_gene': 'KCNQ1-AS1', 'score': 12.23}, {'connected_gene': 'KCNQ1DN', 'score': 12.22}, {'connected_gene': 'CDKN1C', 'score': 1.96}, {'connected_gene': 'COX6CP18', 'score': 0.23}, {'connected_gene': 'KCNQ1', 'score': 0.05}]
chr11 GH11I002521 2521139 2523202 0.2 [{'connected_gene': 'TRPM5', 'score': 17.08}, {'connected_gene': 'CDKN1C', 'score': 12.31}, {'connected_gene': 'SLC22A18AS', 'score': 12.31}, {'connected_gene': 'SLC22A18', 'score': 11.35}, {'connected_gene': 'PHLDA2', 'score': 11.34}, {'connected_gene': 'KCNQ1-AS1', 'score': 10.51}, {'connected_gene': 'KCNQ1DN', 'score': 10.51}, {'connected_gene': 'ENSG00000199550', 'score': 10.23}, {'connected_gene': 'CD81', 'score': 10.23}, {'connected_gene': 'KCNQ1', 'score': 4.74}, {'connected_gene': 'GC11P002517', 'score': 0.44}, {'connected_gene': 'PIR42060', 'score': 0.39}]
chr11 GH11I002768 2768784 2769889 0.87 [{'connected_gene': 'KCNQ1OT1', 'score': 11.26}, {'connected_gene': 'CDKN1C', 'score': 4.66}, {'connected_gene': 'COX6CP18', 'score': 0.77}, {'connected_gene': 'KCNQ1', 'score': 0.05}]
chr11 GH11I002881 2881432 2887180 1.95 [{'connected_gene': 'CDKN1C', 'score': 550.77}, {'connected_gene': 'PHLDA2', 'score': 11.02}, {'connected_gene': 'TRPM5', 'score': 10.99}, {'connected_gene': 'KCNQ1OT1', 'score': 10.97}, {'connected_gene': 'RNU1-91P', 'score': 9.27}, {'connected_gene': 'SLC22A18', 'score': 6.11}, {'connected_gene': 'ENSG00000274740', 'score': 0.39}]
chr11 GH11I002888 2887591 2887800 0.51 [{'connected_gene': 'CDKN1C', 'score': 550.77}, {'connected_gene': 'SLC22A18', 'score': 0.39}, {'connected_gene': 'SLC22A18AS', 'score': 0.37}]
chr11 GH11I002887 2887411 2887560 0.2 [{'connected_gene': 'CDKN1C', 'score': 550.77}, {'connected_gene': 'SLC22A18', 'score': 0.39}, {'connected_gene': 'SLC22A18AS', 'score': 0.37}]
chr11 GH11I002890 2888201 2888801 1.06 [{'connected_gene': 'CDKN1C', 'score': 0.77}, {'connected_gene': 'SLC22A18', 'score': 0.39}, {'connected_gene': 'SLC22A18AS', 'score': 0.37}]
chr11 GH11I002537 2537725 2540618 0.4 [{'connected_gene': 'GC11P002540', 'score': 550.77}, {'connected_gene': 'SLC22A18AS', 'score': 11.84}, {'connected_gene': 'CDKN1C', 'score': 11.84}, {'connected_gene': 'SLC22A18', 'score': 11.42}, {'connected_gene': 'PHLDA2', 'score': 10.46}, {'connected_gene': 'NAP1L4', 'score': 9.4}, {'connected_gene': 'SNORA54', 'score': 9.39}, {'connected_gene': 'PIR42060', 'score': 0.77}, {'connected_gene': 'KCNQ1', 'score': 0.16}]