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
ENST00000416247 [[11094265, 11094622], [11134635, 11138964]] [[11094546, 11094622], [11134635, 11134835]]
ENST00000376935 [[11094463, 11094622], [11134635, 11135220], [11135537, 11136044]] [[11094546, 11094622], [11134635, 11134835]]
NM_001135575 [[11094265, 11094622], [11134635, 11138971]] [[11094546, 11094622], [11134635, 11134835]]
Promoter
Chrom Start End Description
chr6 11093986 11094084 CAGE_peak_1_at_C6orf228_5end
chr6 11094393 11094506 CAGE_peak_2_at_C6orf228_5end
chr6 11094515 11094538 CAGE_peak_3_at_C6orf228_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I011089 11089035 11089300 0.2 [{'connected_gene': 'ELOVL2', 'score': 10.22}, {'connected_gene': 'ELOVL2-AS1', 'score': 10.2}, {'connected_gene': 'SMIM13', 'score': 0.77}, {'connected_gene': 'PIR40503', 'score': 0.44}]
chr6 GH06I011110 11110706 11112720 1.49 [{'connected_gene': 'ERVFRD-1', 'score': 559.42}, {'connected_gene': 'SMIM13', 'score': 0.37}]
chr6 GH06I011116 11116200 11116401 0.52 [{'connected_gene': 'SMIM13', 'score': 12.19}, {'connected_gene': 'ERVFRD-1', 'score': 7.26}, {'connected_gene': 'GC06P011137', 'score': 0.34}]
chr6 GH06I011092 11092657 11096437 2.12 [{'connected_gene': 'SMIM13', 'score': 550.77}, {'connected_gene': 'RNA5SP203', 'score': 10.03}, {'connected_gene': 'ERVFRD-1', 'score': 8.86}]
chr6 GH06I011086 11086128 11086277 0.31 [{'connected_gene': 'SMIM13', 'score': 0.44}, {'connected_gene': 'PIR40503', 'score': 0.44}]
chr6 GH06I011138 11138210 11140425 1.15 [{'connected_gene': 'RNU1-64P', 'score': 11.25}, {'connected_gene': 'THAP12P5', 'score': 11.25}, {'connected_gene': 'ENSG00000247925', 'score': 11.06}, {'connected_gene': 'ERVFRD-1', 'score': 6.65}, {'connected_gene': 'TMEM170B', 'score': 1.78}, {'connected_gene': 'NEDD9', 'score': 1.6}, {'connected_gene': 'GC06P011137', 'score': 0.77}, {'connected_gene': 'ENSG00000271245', 'score': 0.37}, {'connected_gene': 'SMIM13', 'score': 0.25}]