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
ENST00000391806 [[51499262, 51499470], [51501006, 51501140], [51503251, 51503514], [51503679, 51503974], [51504353, 51504431], [51504787, 51504860]] [[51499314, 51499470], [51501006, 51501140], [51503251, 51503514], [51503679, 51503974], [51504353, 51504423]]
ENST00000291726 [[51499263, 51499470], [51501006, 51501140], [51503251, 51503514], [51503679, 51503839], [51504353, 51504431], [51504787, 51504958]] [[51499314, 51499470], [51501006, 51501140], [51503251, 51503514], [51503679, 51503839], [51504353, 51504423]]
ENST00000320838 [[51499263, 51499470], [51504353, 51504431], [51504787, 51504958]] [[51499441, 51499470], [51504353, 51504423]]
ENST00000600767 [[51499263, 51499470], [51501006, 51501140], [51503251, 51503514], [51503679, 51503839], [51504353, 51504431], [51504787, 51504965], [51505663, 51505967]] [[51499314, 51499470], [51501006, 51501140], [51503251, 51503514], [51503679, 51503839], [51504353, 51504423]]
ENST00000594914 [[51499264, 51499470], [51501006, 51501223]] None
ENST00000347619 [[51499264, 51499470], [51501006, 51501140], [51504353, 51504431], [51504787, 51504924]] [[51499314, 51499470], [51501006, 51501140], [51504353, 51504423]]
ENST00000593490 [[51499273, 51499470], [51504353, 51504423]] [[51499441, 51499470], [51504353, 51504423]]
ENST00000598195 [[51499339, 51499470], [51501006, 51501140], [51502208, 51502491]] None
ENST00000594669 [[51499415, 51499470], [51501006, 51501140], [51503251, 51503514], [51504353, 51504382]] [[51503380, 51503514], [51504353, 51504382]]
ENST00000595238 [[51503453, 51503514], [51503679, 51503839], [51504353, 51504431], [51505663, 51505934]] [[51503453, 51503514], [51503679, 51503839], [51504353, 51504423]]
ENST00000599710 [[51503640, 51503974], [51504353, 51504431], [51504787, 51504859]] None
NM_144505 [[51499263, 51499470], [51501006, 51501140], [51503251, 51503514], [51503679, 51503974], [51504353, 51504431], [51504787, 51504958]] [[51499314, 51499470], [51501006, 51501140], [51503251, 51503514], [51503679, 51503974], [51504353, 51504423]]
NM_007196 [[51499263, 51499470], [51501006, 51501140], [51503251, 51503514], [51503679, 51503839], [51504353, 51504431], [51504787, 51504958]] [[51499314, 51499470], [51501006, 51501140], [51503251, 51503514], [51503679, 51503839], [51504353, 51504423]]
NR_104008 [[51499263, 51499470], [51501006, 51501140], [51503679, 51503839], [51504353, 51504431], [51504787, 51504958]] None
NM_001281431 [[51499263, 51499470], [51501006, 51501140], [51503251, 51503514], [51504353, 51504431], [51504787, 51504958]] [[51499314, 51499470], [51501006, 51501140], [51503251, 51503381]]
NM_144506 [[51499263, 51499470], [51501006, 51501140], [51504353, 51504431], [51504787, 51504958]] [[51499314, 51499470], [51501006, 51501140], [51504353, 51504423]]
NM_144507 [[51499263, 51499470], [51504353, 51504431], [51504787, 51504958]] [[51499441, 51499470], [51504353, 51504423]]
Promoter
Chrom Start End Description
chr19 51504395 51504409 CAGE_peak_3_at_KLK8_5end
chr19 51504411 51504451 CAGE_peak_2_at_KLK8_5end
chr19 51504852 51504866 CAGE_peak_1_at_KLK8_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I050720 50720488 50726224 2.32 [{'connected_gene': 'CLEC11A', 'score': 570.56}, {'connected_gene': 'C19orf48', 'score': 12.17}, {'connected_gene': 'GPR32', 'score': 12.16}, {'connected_gene': 'AKT1S1', 'score': 11.24}, {'connected_gene': 'SNORD88A', 'score': 10.93}, {'connected_gene': 'SNORD88C', 'score': 10.93}, {'connected_gene': 'SNORD88B', 'score': 10.93}, {'connected_gene': 'LINC01869', 'score': 10.7}, {'connected_gene': 'NUP62', 'score': 10.4}, {'connected_gene': 'KLK1', 'score': 10.36}, {'connected_gene': 'KLK15', 'score': 10.35}, {'connected_gene': 'EMC10', 'score': 5.82}, {'connected_gene': 'KLK8', 'score': 4.82}, {'connected_gene': 'SHANK1', 'score': 4.19}, {'connected_gene': 'GPR32P1', 'score': 0.29}]
chr19 GH19I050991 50991799 50993618 0.54 [{'connected_gene': 'KLK7', 'score': 8.2}, {'connected_gene': 'KLK8', 'score': 7.09}, {'connected_gene': 'ENSG00000267879', 'score': 0.34}]
chr19 GH19I051792 51792599 51794190 0.59 [{'connected_gene': 'FPR3', 'score': 589.02}, {'connected_gene': 'KLK8', 'score': 4.64}, {'connected_gene': 'LOC105372448', 'score': 0.44}, {'connected_gene': 'FPR1', 'score': 0.39}]
chr19 GH19I050999 50999723 51003350 1.52 [{'connected_gene': 'KLK8', 'score': 560.66}, {'connected_gene': 'KLK10', 'score': 6.69}, {'connected_gene': 'ENSG00000269741', 'score': 0.44}, {'connected_gene': 'KLK9', 'score': 0.44}, {'connected_gene': 'KLK7', 'score': 0.37}, {'connected_gene': 'ENSG00000267879', 'score': 0.29}]