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
ENST00000374644 [[22890056, 22890222], [22895781, 22895846], [22902709, 22903373], [22912972, 22913128], [22915363, 22916114]] [[22890128, 22890222], [22895781, 22895846], [22902709, 22903373], [22912972, 22913128], [22915363, 22915872]]
ENST00000166244 [[22890056, 22890222], [22895781, 22895846], [22902709, 22903373], [22912972, 22913128], [22915363, 22915699], [22919818, 22919943], [22920016, 22920179], [22921722, 22921816], [22922598, 22922666], [22923804, 22923969], [22924168, 22924354], [22924643, 22924705], [22925330, 22925540], [22927153, 22927303], [22927390, 22927581], [22927792, 22927966], [22928119, 22930087]] [[22890128, 22890222], [22895781, 22895846], [22902709, 22903373], [22912972, 22913128], [22915363, 22915699], [22919818, 22919943], [22920016, 22920179], [22921722, 22921816], [22922598, 22922666], [22923804, 22923969], [22924168, 22924354], [22924643, 22924705], [22925330, 22925540], [22927153, 22927303], [22927390, 22927581], [22927792, 22927966], [22928119, 22928234]]
ENST00000538803 [[22890069, 22890123], [22890128, 22890222], [22895781, 22895846], [22902709, 22903373], [22912972, 22913128], [22915363, 22916103]] [[22890128, 22890222], [22895781, 22895846], [22902709, 22903373], [22912972, 22913128], [22915363, 22915872]]
NM_001006943 [[22889994, 22890222], [22895781, 22895846], [22902709, 22903373], [22912972, 22913128], [22915363, 22916114]] [[22890128, 22890222], [22895781, 22895846], [22902709, 22903373], [22912972, 22913128], [22915363, 22915872]]
NM_020526 [[22889994, 22890222], [22895781, 22895846], [22902709, 22903373], [22912972, 22913128], [22915363, 22915699], [22919818, 22919943], [22920016, 22920179], [22921722, 22921816], [22922598, 22922666], [22923804, 22923969], [22924168, 22924354], [22924643, 22924705], [22925330, 22925540], [22927153, 22927303], [22927390, 22927581], [22927792, 22927966], [22928119, 22930087]] [[22890128, 22890222], [22895781, 22895846], [22902709, 22903373], [22912972, 22913128], [22915363, 22915699], [22919818, 22919943], [22920016, 22920179], [22921722, 22921816], [22922598, 22922666], [22923804, 22923969], [22924168, 22924354], [22924643, 22924705], [22925330, 22925540], [22927153, 22927303], [22927390, 22927581], [22927792, 22927966], [22928119, 22928234]]
Promoter
Chrom Start End Description
chr1 22889953 22890005 CAGE_peak_1_at_EPHA8_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I022625 22625302 22628424 0.59 [{'connected_gene': 'C1QB', 'score': 5.15}, {'connected_gene': 'LUZP1', 'score': 4.39}, {'connected_gene': 'MIR6127', 'score': 0.44}, {'connected_gene': 'EPHA8', 'score': 0.21}]
chr1 GH01I022554 22554487 22555055 0.54 [{'connected_gene': 'EPHA8', 'score': 0.44}, {'connected_gene': 'PIR40014', 'score': 0.44}]
chr1 GH01I022563 22563440 22563499 0.76 [{'connected_gene': 'EPHA8', 'score': 550.77}, {'connected_gene': 'PIR40014', 'score': 0.37}]
chr1 GH01I022556 22556448 22556657 0.54 [{'connected_gene': 'EPHA8', 'score': 0.44}, {'connected_gene': 'PIR40014', 'score': 0.39}]
chr1 GH01I022629 22629148 22629297 0.66 [{'connected_gene': 'MIR6127', 'score': 0.77}, {'connected_gene': 'EPHA8', 'score': 0.2}]
chr1 GH01I022610 22610224 22619639 0.89 [{'connected_gene': 'MIR6127', 'score': 0.37}, {'connected_gene': 'EPHA8', 'score': 0.23}]