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
ENST00000510407 [[5131978, 5132141], [5132805, 5132844], [5133424, 5133592], [5164178, 5164251]] None
ENST00000381641 [[5163862, 5164265], [5185313, 5185668]] [[5163912, 5164265], [5185313, 5185602]]
NM_007179 [[5163862, 5164265], [5185313, 5185618]] [[5163912, 5164265], [5185313, 5185602]]
Promoter
Chrom Start End Description
chr9 5185629 5185643 CAGE_peak_1_at_INSL6_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I004996 4996859 4996918 0.5 [{'connected_gene': 'JAK2', 'score': 550.39}, {'connected_gene': 'CSNK1G2P1', 'score': 0.26}, {'connected_gene': 'GC09M004845', 'score': 0.2}, {'connected_gene': 'INSL6', 'score': 0.09}]
chr9 GH09I005186 5186541 5186690 0.62 [{'connected_gene': 'INSL6', 'score': 550.77}, {'connected_gene': 'INSL4', 'score': 10.78}, {'connected_gene': 'PLGRKT', 'score': 10.08}, {'connected_gene': 'ENSG00000237553', 'score': 0.44}]
chr9 GH09I005185 5185629 5185688 0.5 [{'connected_gene': 'INSL6', 'score': 550.77}, {'connected_gene': 'PIR39847', 'score': 0.44}]
chr9 GH09I005086 5086081 5086478 0.29 [{'connected_gene': 'GC09M005128', 'score': 550.77}, {'connected_gene': 'PDSS1P1', 'score': 550.77}, {'connected_gene': 'JAK2', 'score': 11.79}, {'connected_gene': 'INSL4', 'score': 9.93}, {'connected_gene': 'CD274', 'score': 1.92}, {'connected_gene': 'INSL6', 'score': 1.26}, {'connected_gene': 'CDC37L1', 'score': 1.17}, {'connected_gene': 'MTND6P5', 'score': 0.77}]