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
ENST00000598494 [[6463787, 6464224], [6464618, 6464794], [6465555, 6465629], [6466476, 6467232]] [[6464712, 6464794], [6465555, 6465629], [6466476, 6466683]]
ENST00000600229 [[6464289, 6464361], [6464618, 6464794], [6465555, 6465629], [6466476, 6467232]] [[6464712, 6464794], [6465555, 6465629], [6466476, 6466683]]
ENST00000356762 [[6464293, 6464361], [6464618, 6464794], [6465555, 6465629], [6466476, 6466620], [6466961, 6467232]] [[6464712, 6464794], [6465555, 6465629], [6466476, 6466620], [6466961, 6467033]]
ENST00000308243 [[6464541, 6464794], [6465555, 6465629], [6466476, 6466780]] [[6464712, 6464794], [6465555, 6465629], [6466476, 6466683]]
NM_174882 [[6463787, 6464224], [6464618, 6464794], [6465555, 6465629], [6466476, 6467232]] [[6464712, 6464794], [6465555, 6465629], [6466476, 6466683]]
NM_174881 [[6464248, 6464361], [6464618, 6464794], [6465555, 6465629], [6466476, 6466620], [6466961, 6467232]] [[6464712, 6464794], [6465555, 6465629], [6466476, 6466620], [6466961, 6467033]]
NM_139161 [[6464248, 6464361], [6464618, 6464794], [6465555, 6465629], [6466476, 6467232]] [[6464712, 6464794], [6465555, 6465629], [6466476, 6466683]]
Promoter
Chrom Start End Description
chr19 6464243 6464325 CAGE_peak_1_at_CRB3_5end
chr19 6464502 6464583 CAGE_peak_2_at_CRB3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I006462 6462076 6462897 0.8 [{'connected_gene': 'CRB3', 'score': 550.77}, {'connected_gene': 'SLC25A23', 'score': 10.54}, {'connected_gene': 'RFX2', 'score': 3.64}, {'connected_gene': 'SLC25A41', 'score': 0.31}]
chr19 GH19I006463 6463610 6465466 1.84 [{'connected_gene': 'SLC25A23', 'score': 556.59}, {'connected_gene': 'CRB3', 'score': 550.77}]
chr19 GH19I006457 6457758 6461199 2.09 [{'connected_gene': 'SLC25A23', 'score': 569.75}, {'connected_gene': 'KHSRP', 'score': 44.8}, {'connected_gene': 'SNRPEP4', 'score': 23.39}, {'connected_gene': 'RANBP3', 'score': 21.58}, {'connected_gene': 'VMAC', 'score': 17.21}, {'connected_gene': 'ENSG00000267571', 'score': 16.68}, {'connected_gene': 'ZNF557', 'score': 15.18}, {'connected_gene': 'GPR108', 'score': 14.43}, {'connected_gene': 'DUS3L', 'score': 13.8}, {'connected_gene': 'SAFB2', 'score': 11.45}, {'connected_gene': 'SAFB', 'score': 10.58}, {'connected_gene': 'GTF2F1', 'score': 10.44}, {'connected_gene': 'SLC25A41', 'score': 6.64}, {'connected_gene': 'CRB3', 'score': 0.77}]