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
ENST00000460195 [[25824407, 25824771], [25825554, 25825600]] None
ENST00000464688 [[25824529, 25824771], [25831257, 25831477]] None
ENST00000452098 [[25824563, 25824771], [25832480, 25833171]] [[25832511, 25833171]]
ENST00000280701 [[25831570, 25831638], [25832480, 25833488], [25835582, 25836025]] [[25832511, 25833488], [25835582, 25835985]]
ENST00000448177 [[25831580, 25831638], [25832480, 25832806], [25833260, 25833488], [25835582, 25836014]] [[25832511, 25832806], [25833260, 25833274]]
ENST00000420173 [[25831584, 25831638], [25832480, 25833187], [25833436, 25833488], [25835582, 25836025]] [[25832511, 25833187], [25833436, 25833488], [25835582, 25835985]]
ENST00000449808 [[25831970, 25832307], [25832480, 25832806], [25833260, 25833332]] None
ENST00000428266 [[25832276, 25832307], [25832480, 25833205]] [[25832511, 25833205]]
NR_026937 [[25831562, 25831638], [25832480, 25832806], [25833260, 25833488], [25835582, 25836025]] None
NM_001145391 [[25831562, 25831638], [25832480, 25833187], [25833436, 25833488], [25835582, 25836025]] [[25832511, 25833187], [25833436, 25833488], [25835582, 25835985]]
NM_017897 [[25831562, 25831638], [25832480, 25833488], [25835582, 25836025]] [[25832511, 25833488], [25835582, 25835985]]
Promoter
Chrom Start End Description
chr3 25824405 25824416 CAGE_peak_8_at_OXSM_5end
chr3 25831567 25831602 CAGE_peak_1_at_OXSM_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I025854 25854550 25854699 0.62 [{'connected_gene': 'NGLY1', 'score': 10.98}, {'connected_gene': 'OXSM', 'score': 10.97}, {'connected_gene': 'LINC00692', 'score': 0.37}, {'connected_gene': 'LOC105377000', 'score': 0.34}]
chr3 GH03I025820 25820050 25821219 0.86 [{'connected_gene': 'NGLY1', 'score': 11.58}, {'connected_gene': 'OXSM', 'score': 11.56}, {'connected_gene': 'GC03P025816', 'score': 0.44}, {'connected_gene': 'LOC105377000', 'score': 0.39}]
chr3 GH03I025723 25723796 25726320 0.67 [{'connected_gene': 'OXSM', 'score': 15.79}, {'connected_gene': 'NGLY1', 'score': 11.3}, {'connected_gene': 'GC03M025722', 'score': 0.77}, {'connected_gene': 'PIR50853', 'score': 0.37}]
chr3 GH03I025780 25780650 25784459 2.02 [{'connected_gene': 'OXSM', 'score': 555.05}, {'connected_gene': 'NGLY1', 'score': 550.44}, {'connected_gene': 'GC03M025816', 'score': 0.77}, {'connected_gene': 'PIR47937', 'score': 0.77}, {'connected_gene': 'GC03M025805', 'score': 0.77}]
chr3 GH03I025749 25749072 25749442 0.22 [{'connected_gene': 'PIR32734', 'score': 550.77}, {'connected_gene': 'RPL32P11', 'score': 550.77}, {'connected_gene': 'GC03M025751', 'score': 550.77}, {'connected_gene': 'OXSM', 'score': 4.77}, {'connected_gene': 'PIR50853', 'score': 0.77}, {'connected_gene': 'NGLY1', 'score': 0.26}]
chr3 GH03I025788 25788490 25791224 2.06 [{'connected_gene': 'PIR57823', 'score': 550.77}, {'connected_gene': 'GC03M025809', 'score': 550.77}, {'connected_gene': 'PIR40434', 'score': 550.77}, {'connected_gene': 'GC03M025815', 'score': 550.77}, {'connected_gene': 'NGLY1', 'score': 550.77}, {'connected_gene': 'OXSM', 'score': 550.44}, {'connected_gene': 'LINC00692', 'score': 5.31}]
chr3 GH03I025791 25791601 25792000 0.2 [{'connected_gene': 'GC03P025793', 'score': 550.77}, {'connected_gene': 'GC03M025815', 'score': 550.77}, {'connected_gene': 'NGLY1', 'score': 550.77}, {'connected_gene': 'OXSM', 'score': 0.44}]
chr3 GH03I025792 25792201 25792400 0.2 [{'connected_gene': 'GC03P025793', 'score': 550.77}, {'connected_gene': 'GC03M025815', 'score': 550.77}, {'connected_gene': 'OXSM', 'score': 0.44}]