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
ENST00000420646 [[90645249, 90647811], [90743396, 90743539], [90749293, 90749335], [90756697, 90756843], [90757893, 90758127]] [[90647778, 90647811], [90743396, 90743539], [90749293, 90749335], [90756697, 90756818]]
ENST00000394989 [[90645249, 90647811], [90650344, 90650428], [90743396, 90743539], [90756697, 90756843], [90758112, 90758350]] [[90647778, 90647811], [90650344, 90650428], [90743396, 90743539], [90756697, 90756818]]
ENST00000345009 [[90647034, 90647811], [90743396, 90743539], [90749293, 90749335], [90756697, 90756831]] [[90647778, 90647811], [90743396, 90743539], [90749293, 90749335], [90756697, 90756818]]
ENST00000394986 [[90647203, 90647811], [90650344, 90650428], [90743396, 90743539], [90749293, 90749335], [90756697, 90756843], [90757893, 90758290]] [[90647778, 90647811], [90650344, 90650428], [90743396, 90743539], [90749293, 90749335], [90756697, 90756818]]
ENST00000394991 [[90647203, 90647811], [90650344, 90650428], [90743396, 90743539], [90749293, 90749335], [90756697, 90756843], [90758112, 90758379]] [[90647778, 90647811], [90650344, 90650428], [90743396, 90743539], [90749293, 90749335], [90756697, 90756818]]
ENST00000336904 [[90647203, 90647811], [90650344, 90650428], [90743396, 90743539], [90749293, 90749335], [90756697, 90756843], [90759402, 90759466]] [[90647778, 90647811], [90650344, 90650428], [90743396, 90743539], [90749293, 90749335], [90756697, 90756818]]
ENST00000508895 [[90647408, 90647811], [90650344, 90650428], [90743396, 90743539], [90749293, 90749335], [90756697, 90756843], [90757277, 90757364]] [[90647778, 90647811], [90650344, 90650428], [90743396, 90743539], [90749293, 90749335], [90756697, 90756818]]
ENST00000506244 [[90647727, 90647811], [90650344, 90650428], [90743396, 90743539], [90749293, 90749335], [90756697, 90756843], [90758248, 90758319]] [[90647778, 90647811], [90650344, 90650428], [90743396, 90743539], [90749293, 90749335], [90756697, 90756818]]
ENST00000505199 [[90647766, 90647811], [90650344, 90650428], [90743396, 90743539], [90756697, 90756836]] [[90647778, 90647811], [90650344, 90650428], [90743396, 90743539], [90756697, 90756818]]
ENST00000502987 [[90743002, 90743539], [90749293, 90749335], [90756697, 90756846]] [[90743354, 90743539], [90749293, 90749335], [90756697, 90756818]]
ENST00000506691 [[90743502, 90743539], [90749293, 90749335], [90756697, 90756843], [90757893, 90757940], [90758112, 90758227]] [[90743502, 90743539], [90749293, 90749335], [90756697, 90756818]]
NM_001146054 [[90645249, 90647811], [90650344, 90650428], [90743396, 90743539], [90749293, 90749335], [90756697, 90756843], [90757893, 90758127]] [[90647778, 90647811], [90650344, 90650428], [90743396, 90743539], [90749293, 90749335], [90756697, 90756818]]
NM_007308 [[90645249, 90647811], [90743396, 90743539], [90749293, 90749335], [90756697, 90756843], [90757893, 90758127]] [[90647778, 90647811], [90743396, 90743539], [90749293, 90749335], [90756697, 90756818]]
NM_000345 [[90645249, 90647811], [90650344, 90650428], [90743396, 90743539], [90749293, 90749335], [90756697, 90756843], [90758112, 90758350]] [[90647778, 90647811], [90650344, 90650428], [90743396, 90743539], [90749293, 90749335], [90756697, 90756818]]
NM_001146055 [[90645249, 90647811], [90650344, 90650428], [90743396, 90743539], [90749293, 90749335], [90756697, 90756843], [90759402, 90759447]] [[90647778, 90647811], [90650344, 90650428], [90743396, 90743539], [90749293, 90749335], [90756697, 90756818]]
Promoter
Chrom Start End Description
chr4 90756769 90756784 CAGE_peak_7_at_SNCA_5end
chr4 90757235 90757246 CAGE_peak_14_at_SNCA_5end
chr4 90757261 90757273 CAGE_peak_11_at_SNCA_5end
chr4 90757382 90757396 CAGE_peak_13_at_SNCA_5end
chr4 90758039 90758050 CAGE_peak_6_at_SNCA_5end
chr4 90758052 90758098 CAGE_peak_2_at_SNCA_5end
chr4 90758118 90758150 CAGE_peak_3_at_SNCA_5end
chr4 90758153 90758176 CAGE_peak_5_at_SNCA_5end
chr4 90758258 90758372 CAGE_peak_1_at_SNCA_5end
chr4 90758565 90758580 CAGE_peak_9_at_SNCA_5end
chr4 90759440 90759472 CAGE_peak_4_at_SNCA_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I089835 89835903 89838401 1.88 [{'connected_gene': 'SNCA', 'score': 562.95}, {'connected_gene': 'SNCA-AS1', 'score': 550.77}]
chr4 GH04I089829 89829201 89830275 0.74 [{'connected_gene': 'SNCA', 'score': 5.38}, {'connected_gene': 'SNCA-AS1', 'score': 0.44}, {'connected_gene': 'ENSG00000276542', 'score': 0.18}]
chr4 GH04I089708 89708734 89709841 0.69 [{'connected_gene': 'SNCA', 'score': 4.74}, {'connected_gene': 'GC04M089729', 'score': 0.34}, {'connected_gene': 'LOC105377329', 'score': 0.08}]
chr4 GH04I089797 89797241 89797709 0.31 [{'connected_gene': 'SNCA-AS1', 'score': 0.28}, {'connected_gene': 'SNCA', 'score': 0.26}, {'connected_gene': 'ENSG00000276542', 'score': 0.25}]
chr4 GH04I089994 89994128 89999902 1.05 [{'connected_gene': 'CCSER1', 'score': 9.62}, {'connected_gene': 'SNCA', 'score': 4.32}, {'connected_gene': 'LOC105377331', 'score': 0.18}, {'connected_gene': 'MMRN1', 'score': 0.13}]
chr4 GH04I089752 89752568 89754969 1.06 [{'connected_gene': 'MMRN1', 'score': 12.61}, {'connected_gene': 'SNCA', 'score': 4.59}, {'connected_gene': 'ENSG00000276542', 'score': 0.44}, {'connected_gene': 'ENSG00000277695', 'score': 0.44}, {'connected_gene': 'SNCA-AS1', 'score': 0.18}]
chr4 GH04I089799 89799257 89801382 0.43 [{'connected_gene': 'MMRN1', 'score': 8.2}, {'connected_gene': 'SNCA', 'score': 5.26}, {'connected_gene': 'SNCA-AS1', 'score': 0.28}, {'connected_gene': 'ENSG00000276542', 'score': 0.23}]
chr4 GH04I089894 89894151 89902026 1.89 [{'connected_gene': 'MMRN1', 'score': 574.83}, {'connected_gene': 'SNCA', 'score': 10.62}, {'connected_gene': 'LOC105377331', 'score': 0.1}]
chr4 GH04I089738 89738010 89738199 0.52 [{'connected_gene': 'MMRN1', 'score': 12.59}, {'connected_gene': 'GC04M089729', 'score': 0.44}, {'connected_gene': 'ENSG00000274238', 'score': 0.44}, {'connected_gene': 'SNCA', 'score': 0.15}]
chr4 GH04I088997 88997241 89002789 1.55 [{'connected_gene': 'FAM13A', 'score': 15.07}, {'connected_gene': 'FAM13A-AS1', 'score': 10.29}, {'connected_gene': 'TIGD2', 'score': 10.29}, {'connected_gene': 'NAP1L5', 'score': 9.78}, {'connected_gene': 'SNCA', 'score': 5.4}, {'connected_gene': 'GC04M088970', 'score': 0.31}, {'connected_gene': 'GC04P089101', 'score': 0.15}]
chr4 GH04I089765 89765800 89766201 0.58 [{'connected_gene': 'ENSG00000276542', 'score': 0.37}, {'connected_gene': 'SNCA', 'score': 0.19}, {'connected_gene': 'SNCA-AS1', 'score': 0.19}]
chr4 GH04I089724 89724830 89724979 0.2 [{'connected_gene': 'GC04M089729', 'score': 0.44}, {'connected_gene': 'SNCA', 'score': 0.14}, {'connected_gene': 'LOC105377329', 'score': 0.07}]
chr4 GH04I089745 89744970 89745119 0.31 [{'connected_gene': 'ENSG00000274238', 'score': 550.77}, {'connected_gene': 'ENSG00000277695', 'score': 0.77}, {'connected_gene': 'SNCA', 'score': 0.16}]
chr4 GH04I089739 89739430 89739579 0.38 [{'connected_gene': 'ENSG00000274238', 'score': 0.77}, {'connected_gene': 'GC04M089729', 'score': 0.44}, {'connected_gene': 'SNCA', 'score': 0.15}]
chr4 GH04I089744 89744590 89744739 0.2 [{'connected_gene': 'ENSG00000274238', 'score': 550.77}, {'connected_gene': 'ENSG00000277695', 'score': 0.77}, {'connected_gene': 'SNCA', 'score': 0.16}]

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