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
ENST00000301825 [[40428646, 40428752], [40429536, 40429588], [40433513, 40433641], [40442384, 40442502], [40453302, 40453453], [40456171, 40456331], [40457330, 40457564], [40464340, 40464613], [40464781, 40464892], [40465316, 40465454], [40468762, 40470110]] [[40429548, 40429588], [40433513, 40433641], [40442384, 40442502], [40453302, 40453453], [40456171, 40456331], [40457330, 40457564], [40464340, 40464613], [40464781, 40464892], [40465316, 40465454], [40468762, 40468999]]
ENST00000439533 [[40428735, 40428882], [40429536, 40429588], [40433513, 40433641], [40435799, 40435922], [40442384, 40442485]] [[40429548, 40429588], [40433513, 40433641], [40435799, 40435922], [40442384, 40442485]]
ENST00000456402 [[40428735, 40428882], [40429536, 40429588], [40433513, 40433641], [40442384, 40442502], [40453302, 40453453], [40456171, 40456331], [40457330, 40457564], [40464340, 40464613], [40464781, 40464892], [40465316, 40465454], [40468762, 40468999]] [[40429548, 40429588], [40433513, 40433641], [40442384, 40442502], [40453302, 40453453], [40456171, 40456331], [40457330, 40457564], [40464340, 40464613], [40464781, 40464892], [40465316, 40465454], [40468762, 40468999]]
ENST00000445129 [[40429487, 40429588], [40433513, 40433641], [40442384, 40442502], [40453302, 40453453], [40456171, 40456331], [40457330, 40457564], [40464340, 40464613], [40464781, 40464892], [40465316, 40465454], [40466257, 40466501]] [[40429548, 40429588], [40433513, 40433641], [40442384, 40442502], [40453302, 40453453], [40456171, 40456331], [40457330, 40457564], [40464340, 40464613], [40464781, 40464892], [40465316, 40465454], [40466257, 40466263]]
NM_001291961 [[40428646, 40428752], [40429536, 40429588], [40433513, 40433641], [40442384, 40442502], [40453302, 40453453], [40456171, 40456331], [40457330, 40457564], [40464340, 40464613], [40464781, 40464892], [40465316, 40465454], [40466257, 40466490]] [[40429548, 40429588], [40433513, 40433641], [40442384, 40442502], [40453302, 40453453], [40456171, 40456331], [40457330, 40457564], [40464340, 40464613], [40464781, 40464892], [40465316, 40465454], [40466257, 40466263]]
NM_001248 [[40428646, 40428752], [40429536, 40429588], [40433513, 40433641], [40442384, 40442502], [40453302, 40453453], [40456171, 40456331], [40457330, 40457564], [40464340, 40464613], [40464781, 40464892], [40465316, 40465454], [40468762, 40470117]] [[40429548, 40429588], [40433513, 40433641], [40442384, 40442502], [40453302, 40453453], [40456171, 40456331], [40457330, 40457564], [40464340, 40464613], [40464781, 40464892], [40465316, 40465454], [40468762, 40468999]]
NM_001291960 [[40428735, 40428882], [40429536, 40429588], [40433513, 40433641], [40442384, 40442502], [40453302, 40453453], [40456171, 40456331], [40457330, 40457564], [40464340, 40464613], [40464781, 40464892], [40465316, 40465454], [40468762, 40470117]] [[40429548, 40429588], [40433513, 40433641], [40442384, 40442502], [40453302, 40453453], [40456171, 40456331], [40457330, 40457564], [40464340, 40464613], [40464781, 40464892], [40465316, 40465454], [40468762, 40468999]]
Promoter
Chrom Start End Description
chr3 40428666 40428732 CAGE_peak_1_at_ENTPD3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I040388 40387958 40388017 0.61 [{'connected_gene': 'ENTPD3', 'score': 550.77}, {'connected_gene': 'GC03P040390', 'score': 550.77}, {'connected_gene': 'ENTPD3-AS1', 'score': 0.2}]
chr3 GH03I040389 40388410 40388559 0.43 [{'connected_gene': 'ENTPD3', 'score': 550.77}, {'connected_gene': 'GC03P040390', 'score': 550.77}, {'connected_gene': 'ENTPD3-AS1', 'score': 0.21}]
chr3 GH03I040387 40387000 40387401 1.44 [{'connected_gene': 'ENTPD3', 'score': 550.77}, {'connected_gene': 'ENTPD3-AS1', 'score': 4.32}, {'connected_gene': 'GC03P040390', 'score': 0.77}]
chr3 GH03I040456 40456256 40459346 2.22 [{'connected_gene': 'RPL14', 'score': 555.82}, {'connected_gene': 'ENTPD3-AS1', 'score': 32.37}, {'connected_gene': 'ZNF619', 'score': 10.96}, {'connected_gene': 'ENTPD3', 'score': 4.54}, {'connected_gene': 'PIR56082', 'score': 0.44}]
chr3 GH03I040417 40417650 40418467 0.82 [{'connected_gene': 'ENTPD3-AS1', 'score': 37.92}, {'connected_gene': 'RPL14', 'score': 10.85}, {'connected_gene': 'GC03P040390', 'score': 0.31}, {'connected_gene': 'ENTPD3', 'score': 0.29}]
chr3 GH03I040382 40382810 40382959 0.74 [{'connected_gene': 'GC03M040381', 'score': 550.77}, {'connected_gene': 'ENTPD3', 'score': 0.77}, {'connected_gene': 'ENTPD3-AS1', 'score': 0.19}]