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
ENST00000443765 [[37523911, 37524194], [37526650, 37526736], [37539711, 37539863], [37546113, 37546173], [37559763, 37559877], [37563620, 37563692], [37569125, 37569172], [37569561, 37569733], [37573371, 37573504]] [[37524078, 37524194], [37526650, 37526736], [37539711, 37539863], [37546113, 37546173], [37559763, 37559877], [37563620, 37563692], [37569125, 37569172], [37569561, 37569733], [37573371, 37573437]]
ENST00000239891 [[37523966, 37524194], [37526650, 37526736], [37539711, 37539863], [37546113, 37546173], [37559763, 37559877], [37563620, 37563713], [37567740, 37567809], [37569125, 37569172], [37569561, 37569733], [37573371, 37573504]] [[37524078, 37524194], [37526650, 37526736], [37539711, 37539863], [37546113, 37546173], [37559763, 37559877], [37563620, 37563713], [37567740, 37567809], [37569125, 37569172], [37569561, 37569733], [37573371, 37573437]]
ENST00000486410 [[37523985, 37524194], [37526650, 37527006]] None
ENST00000460230 [[37524130, 37524194], [37526650, 37526736], [37539711, 37539863], [37541808, 37542193]] None
ENST00000413537 [[37524161, 37524194], [37526650, 37526736], [37539711, 37539863], [37541808, 37541944], [37546113, 37546173], [37559763, 37559877], [37563620, 37563713], [37567740, 37567809], [37569125, 37569172], [37569561, 37569733], [37573371, 37573473]] [[37541872, 37541944], [37546113, 37546173], [37559763, 37559877], [37563620, 37563713], [37567740, 37567809], [37569125, 37569172], [37569561, 37569733], [37573371, 37573437]]
ENST00000496689 [[37559785, 37559877], [37563620, 37563713], [37567740, 37567809], [37569561, 37569733], [37574068, 37574398]] None
NM_013338 [[37523906, 37524194], [37526650, 37526736], [37539711, 37539863], [37546113, 37546173], [37559763, 37559877], [37563620, 37563713], [37567740, 37567809], [37569125, 37569172], [37569561, 37569733], [37573371, 37573504]] [[37524078, 37524194], [37526650, 37526736], [37539711, 37539863], [37546113, 37546173], [37559763, 37559877], [37563620, 37563713], [37567740, 37567809], [37569125, 37569172], [37569561, 37569733], [37573371, 37573437]]
NM_001142364 [[37523906, 37524194], [37526650, 37526736], [37539711, 37539863], [37546113, 37546173], [37559763, 37559877], [37563620, 37563692], [37569125, 37569172], [37569561, 37569733], [37573371, 37573504]] [[37524078, 37524194], [37526650, 37526736], [37539711, 37539863], [37546113, 37546173], [37559763, 37559877], [37563620, 37563692], [37569125, 37569172], [37569561, 37569733], [37573371, 37573437]]
Promoter
Chrom Start End Description
chr13 37573432 37573502 CAGE_peak_1_at_ALG5_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I036965 36965384 36967035 0.49 [{'connected_gene': 'SUPT20H', 'score': 15.41}, {'connected_gene': 'PIR51208', 'score': 0.34}, {'connected_gene': 'EIF4A1P5', 'score': 0.31}, {'connected_gene': 'ALG5', 'score': 0.29}]
chr13 GH13I037006 37006288 37008098 0.38 [{'connected_gene': 'SUPT20H', 'score': 27.64}, {'connected_gene': 'GC13P037009', 'score': 0.77}, {'connected_gene': 'EXOSC8', 'score': 0.44}, {'connected_gene': 'ALG5', 'score': 0.44}]
chr13 GH13I036978 36978971 36980045 0.2 [{'connected_gene': 'CSNK1A1L', 'score': 6.34}, {'connected_gene': 'PIR51208', 'score': 0.39}, {'connected_gene': 'ALG5', 'score': 0.34}, {'connected_gene': 'EIF4A1P5', 'score': 0.28}]
chr13 GH13I037746 37746881 37748058 0.66 [{'connected_gene': 'EXOSC8', 'score': 13.48}, {'connected_gene': 'ALG5', 'score': 11.35}, {'connected_gene': 'GC13P037774', 'score': 0.31}, {'connected_gene': 'GC13P037655', 'score': 0.16}, {'connected_gene': 'TRPC4', 'score': 0.13}]
chr13 GH13I036997 36997774 37002390 2.31 [{'connected_gene': 'EXOSC8', 'score': 572.94}, {'connected_gene': 'ALG5', 'score': 560.7}, {'connected_gene': 'SUPT20H', 'score': 40.33}, {'connected_gene': 'RFXAP', 'score': 27.66}, {'connected_gene': 'SPART-AS1', 'score': 12.17}, {'connected_gene': 'SMAD9', 'score': 9.94}, {'connected_gene': 'CSNK1A1L', 'score': 7.02}]