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
ENST00000332700 [[45408454, 45410401], [45417489, 45417677], [45429801, 45429897], [45444307, 45444882]] [[45410068, 45410401], [45417489, 45417677], [45429801, 45429897], [45444307, 45444710]]
NM_001004329 [[45408538, 45410401], [45417489, 45417677], [45429801, 45429897], [45444307, 45444882]] [[45410068, 45410401], [45417489, 45417677], [45429801, 45429897], [45444307, 45444710]]
Promoter
Chrom Start End Description
chr12 45444856 45444867 CAGE_peak_2_at_DBX2_5end
chr12 45444873 45444888 CAGE_peak_1_at_DBX2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I044551 44551207 44551538 0.23 [{'connected_gene': 'TMEM117', 'score': 4.42}, {'connected_gene': 'NELL2', 'score': 3.66}, {'connected_gene': 'DBX2', 'score': 1.28}, {'connected_gene': 'ENSG00000275286', 'score': 0.23}, {'connected_gene': 'GC12M044560', 'score': 0.13}]
chr12 GH12I044889 44889436 44890492 0.72 [{'connected_gene': 'NELL2', 'score': 19.89}, {'connected_gene': 'DBX2', 'score': 5.58}, {'connected_gene': 'GC12M044881', 'score': 0.44}, {'connected_gene': 'ENSG00000201788', 'score': 0.44}, {'connected_gene': 'GC12M044877', 'score': 0.39}]
chr12 GH12I044842 44842669 44842833 0.48 [{'connected_gene': 'NELL2', 'score': 8.45}, {'connected_gene': 'DBX2', 'score': 1.43}, {'connected_gene': 'GC12M044833', 'score': 0.44}, {'connected_gene': 'GC12M044853', 'score': 0.37}]
chr12 GH12I044846 44846800 44849097 1.32 [{'connected_gene': 'NELL2', 'score': 17.25}, {'connected_gene': 'DBX2', 'score': 14.93}, {'connected_gene': 'GC12M044833', 'score': 0.39}, {'connected_gene': 'GC12M044853', 'score': 0.39}]
chr12 GH12I044874 44874808 44877187 2.29 [{'connected_gene': 'NELL2', 'score': 566.41}, {'connected_gene': 'DBX2', 'score': 15.0}, {'connected_gene': 'GC12M044881', 'score': 0.77}, {'connected_gene': 'ENSG00000201788', 'score': 0.77}, {'connected_gene': 'GC12M044853', 'score': 0.37}]
chr12 GH12I045076 45076492 45077987 0.52 [{'connected_gene': 'DBX2', 'score': 19.69}, {'connected_gene': 'NELL2', 'score': 8.52}, {'connected_gene': 'LOC100533757', 'score': 0.44}, {'connected_gene': 'ENSG00000257319', 'score': 0.31}, {'connected_gene': 'GC12P045114', 'score': 0.28}]
chr12 GH12I044851 44851460 44854551 0.38 [{'connected_gene': 'DBX2', 'score': 14.19}, {'connected_gene': 'NELL2', 'score': 7.0}, {'connected_gene': 'GC12M044853', 'score': 0.44}, {'connected_gene': 'GC12M044833', 'score': 0.37}]
chr12 GH12I044819 44819614 44820487 0.2 [{'connected_gene': 'DBX2', 'score': 5.03}, {'connected_gene': 'GC12M044826', 'score': 0.44}, {'connected_gene': 'NELL2', 'score': 0.15}, {'connected_gene': 'GC12M044702', 'score': 0.14}]
chr12 GH12I045205 45205601 45206400 0.72 [{'connected_gene': 'DBX2', 'score': 4.64}, {'connected_gene': 'ANO6', 'score': 0.44}, {'connected_gene': 'LOC100419293', 'score': 0.44}, {'connected_gene': 'PLEKHA8P1', 'score': 0.39}]
chr12 GH12I045089 45089845 45090083 0.4 [{'connected_gene': 'DBX2', 'score': 11.33}, {'connected_gene': 'LOC100533757', 'score': 0.37}, {'connected_gene': 'GC12P045114', 'score': 0.34}, {'connected_gene': 'ENSG00000257319', 'score': 0.28}]
chr12 GH12I045051 45051069 45051128 0.98 [{'connected_gene': 'DBX2', 'score': 550.77}, {'connected_gene': 'ENSG00000257319', 'score': 550.77}]
chr12 GH12I045034 45034510 45034809 0.4 [{'connected_gene': 'LOC105369742', 'score': 550.77}, {'connected_gene': 'DBX2', 'score': 0.37}, {'connected_gene': 'GC12M044982', 'score': 0.26}]