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
ENST00000395571 [[124260695, 124262560], [124265561, 124268411], [124279512, 124279626], [124286456, 124286735]] [[124265564, 124268186]]
ENST00000297857 [[124260696, 124262560], [124265561, 124268411], [124279512, 124279626], [124286361, 124286547]] [[124265564, 124268186]]
ENST00000517516 [[124261899, 124262560], [124279512, 124279631]] None
ENST00000522655 [[124262369, 124262560], [124265561, 124268411], [124279512, 124279626], [124287579, 124287781]] [[124265564, 124268186]]
ENST00000602651 [[124264668, 124265682]] [[124265564, 124265682]]
ENST00000522595 [[124267774, 124268411], [124279512, 124279626], [124286361, 124286724]] None
ENST00000524267 [[124268159, 124268411], [124279512, 124279626], [124285989, 124286237]] None
ENST00000480132 [[124268359, 124268411], [124269272, 124269457], [124279512, 124279626], [124286361, 124286506]] None
NM_001017926 [[124260689, 124262560], [124265561, 124268411], [124279512, 124279626], [124286361, 124286727]] [[124265564, 124268186]]
NR_037874 [[124260689, 124262560], [124279512, 124279626], [124286361, 124286727]] None
NM_007222 [[124260689, 124262560], [124265561, 124268411], [124279512, 124279626], [124286456, 124286727]] [[124265564, 124268186]]
NR_037873 [[124260689, 124262560], [124265561, 124268411], [124279512, 124279626], [124287579, 124287781]] None
Promoter
Chrom Start End Description
chr8 124286495 124286548 CAGE_peak_1_at_ZHX1_5end
chr8 124286670 124286702 CAGE_peak_3_at_ZHX1_5end
chr8 124286761 124286773 CAGE_peak_4_at_ZHX1_5end
chr8 124286775 124286860 CAGE_peak_2_at_ZHX1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I123722 123722226 123724527 0.43 [{'connected_gene': 'WDYHV1', 'score': 11.44}, {'connected_gene': 'KLHL38', 'score': 10.67}, {'connected_gene': 'FAM91A1', 'score': 10.55}, {'connected_gene': 'TATDN1', 'score': 10.21}, {'connected_gene': 'ZHX1', 'score': 10.12}, {'connected_gene': 'FBXO32', 'score': 9.95}, {'connected_gene': 'LOC105375738', 'score': 9.68}, {'connected_gene': 'FAM83A-AS1', 'score': 9.27}, {'connected_gene': 'LOC105375739', 'score': 0.77}, {'connected_gene': 'ANXA13', 'score': 0.39}]
chr8 GH08I123911 123911114 123913044 0.83 [{'connected_gene': 'FER1L6-AS1', 'score': 10.06}, {'connected_gene': 'ENSG00000254249', 'score': 10.06}, {'connected_gene': 'FER1L6', 'score': 6.5}, {'connected_gene': 'IMPDH1P6', 'score': 6.42}, {'connected_gene': 'ZHX1', 'score': 4.81}, {'connected_gene': 'GC08P123918', 'score': 0.44}]
chr8 GH08I123394 123394349 123397350 2.37 [{'connected_gene': 'ATAD2', 'score': 552.28}, {'connected_gene': 'FAM91A1', 'score': 40.02}, {'connected_gene': 'DERL1', 'score': 23.18}, {'connected_gene': 'C8orf76', 'score': 10.58}, {'connected_gene': 'WDYHV1', 'score': 7.34}, {'connected_gene': 'ZHX1', 'score': 1.3}, {'connected_gene': 'IMPDH1P6', 'score': 0.77}, {'connected_gene': 'GC08M123342', 'score': 0.31}]
chr8 GH08I124005 124005753 124008511 0.93 [{'connected_gene': 'ZHX1', 'score': 4.87}, {'connected_gene': 'GC08P124011', 'score': 0.77}, {'connected_gene': 'GC08P124010', 'score': 0.77}, {'connected_gene': 'GC08P124012', 'score': 0.77}, {'connected_gene': 'PIR31943', 'score': 0.77}, {'connected_gene': 'GC08P124013', 'score': 0.77}, {'connected_gene': 'FER1L6-AS1', 'score': 0.29}, {'connected_gene': 'GC08M123978', 'score': 0.26}, {'connected_gene': 'ENSG00000254000', 'score': 0.18}, {'connected_gene': 'FER1L6', 'score': 0.1}]
chr8 GH08I123276 123276961 123277110 0.38 [{'connected_gene': 'ZHX1', 'score': 550.77}, {'connected_gene': 'LOC392266', 'score': 0.39}]
chr8 GH08I122852 122852814 122854654 0.38 [{'connected_gene': 'ZHX1', 'score': 4.76}, {'connected_gene': 'ENSG00000253372', 'score': 0.25}, {'connected_gene': 'GC08P122905', 'score': 0.23}, {'connected_gene': 'ZHX2', 'score': 0.19}]
chr8 GH08I123250 123250581 123251983 1.01 [{'connected_gene': 'ZHX1', 'score': 11.38}, {'connected_gene': 'FAM83A-AS1', 'score': 10.15}, {'connected_gene': 'WDYHV1', 'score': 9.73}, {'connected_gene': 'ATAD2', 'score': 9.73}, {'connected_gene': 'RNU6-875P', 'score': 9.49}, {'connected_gene': 'MIR548AA1', 'score': 9.48}, {'connected_gene': 'DUTP2', 'score': 9.48}, {'connected_gene': 'GC08M123252', 'score': 0.77}, {'connected_gene': 'C8orf76', 'score': 0.44}, {'connected_gene': 'ZHX1-C8orf76', 'score': 0.34}]
chr8 GH08I123285 123285901 123286070 0.6 [{'connected_gene': 'RNU6-628P', 'score': 11.38}, {'connected_gene': 'RNU6-875P', 'score': 11.35}, {'connected_gene': 'MIR548AA1', 'score': 11.34}, {'connected_gene': 'DUTP2', 'score': 11.34}, {'connected_gene': 'FAM83A', 'score': 10.02}, {'connected_gene': 'FAM83A-AS1', 'score': 9.93}, {'connected_gene': 'KLHL38', 'score': 9.93}, {'connected_gene': 'LOC392266', 'score': 0.77}, {'connected_gene': 'ZHX1', 'score': 0.39}]
chr8 GH08I123585 123585781 123586421 0.46 [{'connected_gene': 'LOC105375738', 'score': 11.52}, {'connected_gene': 'WDYHV1', 'score': 11.48}, {'connected_gene': 'KLHL38', 'score': 11.31}, {'connected_gene': 'FBXO32', 'score': 10.79}, {'connected_gene': 'TATDN1', 'score': 10.21}, {'connected_gene': 'ZHX1', 'score': 10.13}, {'connected_gene': 'RN7SKP155', 'score': 0.77}, {'connected_gene': 'ENSG00000254113', 'score': 0.37}]
chr8 GH08I123269 123269000 123269201 0.72 [{'connected_gene': 'ZHX1-C8orf76', 'score': 0.44}, {'connected_gene': 'ZHX1', 'score': 0.44}, {'connected_gene': 'RNU6-628P', 'score': 0.44}]
chr8 GH08I123271 123271742 123276003 2.07 [{'connected_gene': 'ZHX1-C8orf76', 'score': 550.77}, {'connected_gene': 'ZHX1', 'score': 550.77}, {'connected_gene': 'RNU6-875P', 'score': 10.55}, {'connected_gene': 'MIR548AA1', 'score': 10.54}, {'connected_gene': 'DUTP2', 'score': 10.53}, {'connected_gene': 'FAM83A', 'score': 10.4}, {'connected_gene': 'RNU6-628P', 'score': 0.39}]
chr8 GH08I123267 123267309 123267368 0.5 [{'connected_gene': 'ZHX1-C8orf76', 'score': 550.44}, {'connected_gene': 'RNU6-628P', 'score': 0.77}, {'connected_gene': 'ZHX1', 'score': 0.44}]
chr8 GH08I123253 123253201 123253400 0.2 [{'connected_gene': 'GC08M123252', 'score': 550.77}, {'connected_gene': 'ZHX1', 'score': 11.28}, {'connected_gene': 'FAM83A-AS1', 'score': 10.53}, {'connected_gene': 'RNU6-875P', 'score': 9.84}, {'connected_gene': 'MIR548AA1', 'score': 9.83}, {'connected_gene': 'DUTP2', 'score': 9.82}, {'connected_gene': 'C8orf76', 'score': 0.39}, {'connected_gene': 'ZHX1-C8orf76', 'score': 0.34}]