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
ENST00000525729 [[108179245, 108179798], [108256646, 108256702], [108263934, 108264105], [108276155, 108276286], [108277489, 108277690], [108332205, 108332295], [108338197, 108338258]] [[108179697, 108179798], [108256646, 108256702], [108263934, 108264105], [108276155, 108276286], [108277489, 108277690], [108332205, 108332286]]
ENST00000527531 [[108201925, 108202294], [108205946, 108206019], [108225641, 108226836], [108253746, 108253902], [108256646, 108256702], [108263934, 108264105], [108276155, 108276286], [108277489, 108277690], [108277822, 108277876], [108302472, 108302565], [108332205, 108332295], [108333274, 108333368]] [[108253747, 108253902], [108256646, 108256702], [108263934, 108264105], [108276155, 108276286], [108277489, 108277690], [108277822, 108277876], [108302472, 108302565], [108332205, 108332286]]
ENST00000524755 [[108202137, 108202294], [108205946, 108206019], [108263934, 108264105], [108276155, 108276210]] [[108202276, 108202294], [108205946, 108206019], [108263934, 108264105], [108276155, 108276210]]
ENST00000526725 [[108210885, 108211091], [108263934, 108264105], [108276155, 108276255]] None
ENST00000529391 [[108253726, 108253902], [108256646, 108256702], [108263934, 108264105], [108276155, 108276286], [108277489, 108277690], [108277822, 108277876], [108302472, 108302565], [108332205, 108332296]] [[108253747, 108253902], [108256646, 108256702], [108263934, 108264105], [108276155, 108276286], [108277489, 108277690], [108277822, 108277876], [108302472, 108302565], [108332205, 108332286]]
ENST00000393084 [[108253726, 108253902], [108256646, 108256702], [108263934, 108264105], [108276155, 108276286], [108277489, 108277690], [108277822, 108277876], [108302472, 108302565], [108332205, 108332295], [108338197, 108338258]] [[108253747, 108253902], [108256646, 108256702], [108263934, 108264105], [108276155, 108276286], [108277489, 108277690], [108277822, 108277876], [108302472, 108302565], [108332205, 108332286]]
ENST00000533583 [[108264039, 108264105], [108276155, 108276286], [108277489, 108277690], [108302472, 108302565], [108332205, 108332296]] [[108264039, 108264105], [108276155, 108276286], [108277489, 108277690], [108302472, 108302565], [108332205, 108332286]]
NM_001330368 [[108179245, 108179798], [108256646, 108256702], [108263934, 108264105], [108276155, 108276286], [108277489, 108277690], [108332205, 108332295], [108338197, 108338258]] [[108179697, 108179798], [108256646, 108256702], [108263934, 108264105], [108276155, 108276286], [108277489, 108277690], [108332205, 108332286]]
NM_152587 [[108253726, 108253902], [108256646, 108256702], [108263934, 108264105], [108276155, 108276286], [108277489, 108277690], [108277822, 108277876], [108302472, 108302565], [108332205, 108332295], [108338197, 108338258]] [[108253747, 108253902], [108256646, 108256702], [108263934, 108264105], [108276155, 108276286], [108277489, 108277690], [108277822, 108277876], [108302472, 108302565], [108332205, 108332286]]
Promoter
Chrom Start End Description
chr11 108338193 108338213 CAGE_peak_2_at_C11orf65_5end
chr11 108338218 108338263 CAGE_peak_1_at_C11orf65_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I108246 108246344 108247842 0.56 [{'connected_gene': 'ACAT1', 'score': 21.51}, {'connected_gene': 'ATM', 'score': 11.75}, {'connected_gene': 'NPAT', 'score': 11.75}, {'connected_gene': 'ENSG00000255467', 'score': 10.36}, {'connected_gene': 'DDX10', 'score': 10.01}, {'connected_gene': 'C11orf65', 'score': 4.88}, {'connected_gene': 'GC11M108232', 'score': 0.37}, {'connected_gene': 'ENSG00000206967', 'score': 0.37}, {'connected_gene': 'PIR35860', 'score': 0.13}]
chr11 GH11I108233 108233068 108244142 1.25 [{'connected_gene': 'ACAT1', 'score': 28.0}, {'connected_gene': 'ATM', 'score': 10.79}, {'connected_gene': 'ENSG00000255467', 'score': 10.36}, {'connected_gene': 'DDX10', 'score': 10.01}, {'connected_gene': 'C11orf65', 'score': 7.89}, {'connected_gene': 'KDELC2', 'score': 7.85}, {'connected_gene': 'GC11M108232', 'score': 0.44}, {'connected_gene': 'ENSG00000206967', 'score': 0.44}, {'connected_gene': 'PIR35860', 'score': 0.12}]
chr11 GH11I108215 108215348 108217503 0.46 [{'connected_gene': 'ACAT1', 'score': 19.17}, {'connected_gene': 'ENSG00000255467', 'score': 10.9}, {'connected_gene': 'C11orf65', 'score': 5.11}, {'connected_gene': 'ATM', 'score': 0.44}, {'connected_gene': 'NPAT', 'score': 0.44}]
chr11 GH11I108340 108340634 108341661 0.89 [{'connected_gene': 'ACAT1', 'score': 10.62}, {'connected_gene': 'PIR35860', 'score': 0.29}, {'connected_gene': 'GC11M108232', 'score': 0.14}, {'connected_gene': 'ENSG00000206967', 'score': 0.14}, {'connected_gene': 'C11orf65', 'score': 0.13}, {'connected_gene': 'ATM', 'score': 0.13}]
chr11 GH11I108219 108219775 108231947 2.31 [{'connected_gene': 'NPAT', 'score': 602.81}, {'connected_gene': 'ATM', 'score': 562.27}, {'connected_gene': 'ACAT1', 'score': 22.97}, {'connected_gene': 'DDX10', 'score': 19.44}, {'connected_gene': 'KDELC2', 'score': 17.39}, {'connected_gene': 'CWF19L2', 'score': 11.55}, {'connected_gene': 'ENSG00000255467', 'score': 10.92}, {'connected_gene': 'C11orf65', 'score': 4.91}, {'connected_gene': 'GC11M108232', 'score': 0.77}, {'connected_gene': 'ENSG00000206967', 'score': 0.77}]
chr11 GH11I108465 108465922 108468650 2.03 [{'connected_gene': 'C11orf65', 'score': 550.77}, {'connected_gene': 'NPAT', 'score': 15.57}, {'connected_gene': 'KDELC2', 'score': 11.78}, {'connected_gene': 'DDX10', 'score': 10.06}, {'connected_gene': 'ACAT1', 'score': 9.33}, {'connected_gene': 'PIR35860', 'score': 0.16}]
chr11 GH11I108432 108432113 108433894 0.31 [{'connected_gene': 'KDELC2', 'score': 18.17}, {'connected_gene': 'ACAT1', 'score': 11.35}, {'connected_gene': 'C11orf65', 'score': 4.7}, {'connected_gene': 'PIR35860', 'score': 0.22}]
chr11 GH11I108474 108474759 108475030 0.54 [{'connected_gene': 'KDELC2', 'score': 7.8}, {'connected_gene': 'LOC105369479', 'score': 0.77}, {'connected_gene': 'C11orf65', 'score': 0.44}]
chr11 GH11I108475 108475274 108475323 0.59 [{'connected_gene': 'LOC105369479', 'score': 0.77}, {'connected_gene': 'C11orf65', 'score': 0.44}, {'connected_gene': 'KDELC2', 'score': 0.34}]