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
ENST00000221973 [[51883162, 51883516], [51883758, 51883893], [51885671, 51885821], [51890396, 51890703], [51891172, 51891209]] [[51883454, 51883516], [51883758, 51883893], [51885671, 51885821], [51890396, 51890697]]
ENST00000596399 [[51883163, 51883516], [51883758, 51883893], [51885671, 51885821], [51890522, 51890703], [51891172, 51891214]] [[51883454, 51883516], [51883758, 51883893], [51885671, 51885821], [51890522, 51890697]]
NM_030657 [[51883162, 51883516], [51883758, 51883893], [51885671, 51885821], [51890396, 51890703], [51891172, 51891210]] [[51883454, 51883516], [51883758, 51883893], [51885671, 51885821], [51890396, 51890697]]
NM_001161748 [[51883162, 51883516], [51883758, 51883893], [51885671, 51885821], [51890522, 51890703], [51891172, 51891210]] [[51883454, 51883516], [51883758, 51883893], [51885671, 51885821], [51890522, 51890697]]
Promoter
Chrom Start End Description
chr19 51891222 51891233 CAGE_peak_1_at_LIM2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I051380 51380354 51381320 0.79 [{'connected_gene': 'NKG7', 'score': 0.44}, {'connected_gene': 'LIM2', 'score': 0.44}]
chr19 GH19I051370 51370248 51376452 1.46 [{'connected_gene': 'NKG7', 'score': 550.77}, {'connected_gene': 'VSIG10L', 'score': 5.84}, {'connected_gene': 'LIM2', 'score': 0.39}]
chr19 GH19I051386 51386899 51388296 1.39 [{'connected_gene': 'LIM2', 'score': 550.77}, {'connected_gene': 'C19orf84', 'score': 15.21}, {'connected_gene': 'NKG7', 'score': 0.39}]
chr19 GH19I051388 51388617 51391827 1.61 [{'connected_gene': 'C19orf84', 'score': 571.03}, {'connected_gene': 'LIM2', 'score': 0.77}]