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
ENST00000339022 [[96443250, 96443744], [96447526, 96447689], [96447881, 96448031], [96454673, 96454834], [96480152, 96480294], [96484102, 96484290], [96493053, 96493195], [96495019, 96495945]] [[96443576, 96443744], [96447526, 96447689], [96447881, 96448031], [96454673, 96454834], [96480152, 96480294], [96484102, 96484290], [96493053, 96493195], [96495019, 96495201]]
ENST00000285979 [[96443377, 96443744], [96447526, 96447689], [96447881, 96448031], [96454673, 96454834], [96466540, 96466717], [96480152, 96480294], [96484102, 96484290], [96493053, 96493195], [96495019, 96495947]] [[96443576, 96443744], [96447526, 96447689], [96447881, 96448031], [96454673, 96454834], [96466540, 96466717], [96480152, 96480294], [96484102, 96484290], [96493053, 96493195], [96495019, 96495201]]
NM_001128925 [[96443250, 96443744], [96447526, 96447689], [96447881, 96448031], [96454673, 96454834], [96480152, 96480294], [96484102, 96484290], [96493053, 96493195], [96495019, 96495947]] [[96443576, 96443744], [96447526, 96447689], [96447881, 96448031], [96454673, 96454834], [96480152, 96480294], [96484102, 96484290], [96493053, 96493195], [96495019, 96495201]]
NM_000772 [[96443250, 96443744], [96447526, 96447689], [96447881, 96448031], [96454673, 96454834], [96466540, 96466717], [96480152, 96480294], [96484102, 96484290], [96493053, 96493195], [96495019, 96495947]] [[96443576, 96443744], [96447526, 96447689], [96447881, 96448031], [96454673, 96454834], [96466540, 96466717], [96480152, 96480294], [96484102, 96484290], [96493053, 96493195], [96495019, 96495201]]
Promoter
Chrom Start End Description
chr10 96443204 96443217 CAGE_peak_3_at_CYP2C18_5end
chr10 96443420 96443430 CAGE_peak_6_at_CYP2C18_5end
chr10 96443469 96443474 CAGE_peak_8_at_CYP2C18_5end
chr10 96443479 96443495 CAGE_peak_2_at_CYP2C18_5end
chr10 96443514 96443527 CAGE_peak_4_at_CYP2C18_5end
chr10 96443528 96443541 CAGE_peak_5_at_CYP2C18_5end
chr10 96443542 96443563 CAGE_peak_1_at_CYP2C18_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I095271 95271476 95282774 1.39 [{'connected_gene': 'PDLIM1', 'score': 8.83}, {'connected_gene': 'CYP2C8', 'score': 6.54}, {'connected_gene': 'TBC1D12', 'score': 5.33}, {'connected_gene': 'ACSM6', 'score': 5.3}, {'connected_gene': 'CYP2C18', 'score': 4.61}, {'connected_gene': 'TCTN3', 'score': 4.0}, {'connected_gene': 'GC10M095264', 'score': 0.44}, {'connected_gene': 'GC10M095235', 'score': 0.26}]
chr10 GH10I094679 94679461 94684898 1.36 [{'connected_gene': 'CYP2C18', 'score': 550.77}, {'connected_gene': 'ACSM6', 'score': 27.79}, {'connected_gene': 'CYP2C19', 'score': 14.98}, {'connected_gene': 'MTND4P19', 'score': 5.84}, {'connected_gene': 'NOC3L', 'score': 5.34}, {'connected_gene': 'CYP2C9', 'score': 4.69}, {'connected_gene': 'CTBP2P2', 'score': 0.29}]
chr10 GH10I094676 94676448 94678172 0.65 [{'connected_gene': 'ACSM6', 'score': 27.83}, {'connected_gene': 'CYP2C18', 'score': 0.44}, {'connected_gene': 'CTBP2P2', 'score': 0.31}]