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
ENST00000264808 [[121613069, 121616430], [121631463, 121631568], [121675707, 121675793], [121698342, 121698436], [121702297, 121702458], [121706152, 121706246], [121719421, 121719579], [121720815, 121720900], [121732524, 121732604], [121737607, 121737729], [121737986, 121738079], [121739507, 121739682], [121742325, 121742500], [121774572, 121774695], [121828628, 121828712], [121843670, 121844004]] [[121616265, 121616430], [121631463, 121631568], [121675707, 121675793], [121698342, 121698436], [121702297, 121702458], [121706152, 121706246], [121719421, 121719579], [121720815, 121720900], [121732524, 121732604], [121737607, 121737729], [121737986, 121738079], [121739507, 121739682], [121742325, 121742500], [121774572, 121774695], [121828628, 121828712], [121843670, 121843763]]
ENST00000428209 [[121615977, 121616430], [121631463, 121631568], [121675707, 121675793], [121698342, 121698436], [121702297, 121702458], [121706152, 121706246], [121719421, 121719579], [121720815, 121720900], [121732524, 121732604], [121737607, 121737729], [121739507, 121739682], [121742325, 121742500], [121774572, 121774695], [121828628, 121828712], [121843670, 121844013]] [[121616265, 121616430], [121631463, 121631568], [121675707, 121675793], [121698342, 121698436], [121702297, 121702458], [121706152, 121706246], [121719421, 121719579], [121720815, 121720900], [121732524, 121732604], [121737607, 121737729], [121739507, 121739682], [121742325, 121742500], [121774572, 121774695], [121828628, 121828712], [121843670, 121843763]]
ENST00000515109 [[121615977, 121616430], [121631463, 121631568], [121698342, 121698436], [121702297, 121702458], [121706152, 121706246], [121719421, 121719579], [121720815, 121720900], [121732524, 121732604], [121737607, 121737729], [121739507, 121739682], [121742325, 121742500], [121774572, 121774695], [121828628, 121828712], [121843670, 121844020]] [[121631506, 121631568], [121698342, 121698436], [121702297, 121702458], [121706152, 121706246], [121719421, 121719579], [121720815, 121720900], [121732524, 121732604], [121737607, 121737729], [121739507, 121739682], [121742325, 121742500], [121774572, 121774695], [121828628, 121828712], [121843670, 121843763]]
ENST00000505484 [[121616265, 121616430], [121631463, 121631568], [121652772, 121652945], [121675707, 121675793], [121698342, 121698436], [121702297, 121702458], [121706152, 121706246], [121719421, 121719579], [121720815, 121720900], [121732524, 121732604], [121737607, 121738079], [121739507, 121739682], [121742325, 121742500], [121774572, 121774695], [121828628, 121828712], [121843670, 121843836]] None
ENST00000506065 [[121616312, 121616430], [121631463, 121631568], [121675707, 121675793], [121683534, 121683921]] None
ENST00000512845 [[121737217, 121737729], [121739507, 121739682], [121742325, 121742500], [121774572, 121774695], [121828628, 121828712], [121843670, 121843850]] None
ENST00000394435 [[121758499, 121760429], [121774572, 121774695], [121828628, 121828712], [121843670, 121844025]] [[121760393, 121760429], [121774572, 121774695], [121828628, 121828712], [121843670, 121843763]]
ENST00000513741 [[121606073, 121606180], [121631463, 121631566]] None
ENST00000503661 [[121706178, 121706246], [121719421, 121719579], [121720815, 121720900], [121732524, 121732604], [121733705, 121734161]] None
ENST00000502409 [[121706185, 121706246], [121719421, 121719579], [121720815, 121720900], [121732524, 121732604], [121733705, 121733969], [121737607, 121737729], [121737986, 121738079], [121739507, 121739682], [121742325, 121742331]] [[121733928, 121733969], [121737607, 121737729], [121737986, 121738079], [121739507, 121739682], [121742325, 121742331]]
ENST00000507611 [[121739325, 121739682], [121742325, 121742503]] None
ENST00000505033 [[121806659, 121806940], [121828628, 121828712], [121843670, 121843881]] None
NM_018699 [[121613067, 121616430], [121631463, 121631568], [121675707, 121675793], [121698342, 121698436], [121702297, 121702458], [121706152, 121706246], [121719421, 121719579], [121720815, 121720900], [121732524, 121732604], [121737607, 121737729], [121737986, 121738079], [121739507, 121739682], [121742325, 121742500], [121774572, 121774695], [121828628, 121828712], [121843670, 121844021]] [[121616265, 121616430], [121631463, 121631568], [121675707, 121675793], [121698342, 121698436], [121702297, 121702458], [121706152, 121706246], [121719421, 121719579], [121720815, 121720900], [121732524, 121732604], [121737607, 121737729], [121737986, 121738079], [121739507, 121739682], [121742325, 121742500], [121774572, 121774695], [121828628, 121828712], [121843670, 121843763]]
NM_001300823 [[121613067, 121616430], [121631463, 121631568], [121675707, 121675793], [121698342, 121698436], [121702297, 121702458], [121706152, 121706246], [121719421, 121719579], [121720815, 121720900], [121732524, 121732604], [121737607, 121737729], [121739507, 121739682], [121742325, 121742500], [121774572, 121774695], [121828628, 121828712], [121843670, 121844021]] [[121616265, 121616430], [121631463, 121631568], [121675707, 121675793], [121698342, 121698436], [121702297, 121702458], [121706152, 121706246], [121719421, 121719579], [121720815, 121720900], [121732524, 121732604], [121737607, 121737729], [121739507, 121739682], [121742325, 121742500], [121774572, 121774695], [121828628, 121828712], [121843670, 121843763]]
NM_001300824 [[121613067, 121616430], [121631463, 121631568], [121698342, 121698436], [121702297, 121702458], [121706152, 121706246], [121719421, 121719579], [121720815, 121720900], [121732524, 121732604], [121737607, 121737729], [121739507, 121739682], [121742325, 121742500], [121774572, 121774695], [121828628, 121828712], [121843670, 121844021]] [[121631506, 121631568], [121698342, 121698436], [121702297, 121702458], [121706152, 121706246], [121719421, 121719579], [121720815, 121720900], [121732524, 121732604], [121737607, 121737729], [121739507, 121739682], [121742325, 121742500], [121774572, 121774695], [121828628, 121828712], [121843670, 121843763]]
Promoter
Chrom Start End Description
chr4 121843402 121843416 CAGE_peak_4_at_PRDM5_5end
chr4 121843844 121843904 CAGE_peak_1_at_PRDM5_5end
chr4 121843985 121844024 CAGE_peak_2_at_PRDM5_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I120901 120901324 120902708 0.31 [{'connected_gene': 'PRDM5', 'score': 17.41}, {'connected_gene': 'NDNF', 'score': 4.79}, {'connected_gene': 'SETP12', 'score': 0.77}, {'connected_gene': 'GC04P120921', 'score': 0.37}]
chr4 GH04I120815 120815786 120816707 0.31 [{'connected_gene': 'PRDM5', 'score': 6.56}, {'connected_gene': 'RNU6-550P', 'score': 0.44}, {'connected_gene': 'GC04M120830', 'score': 0.37}]
chr4 GH04I120921 120921104 120924152 1.83 [{'connected_gene': 'PRDM5', 'score': 558.32}, {'connected_gene': 'LOC105377399', 'score': 550.77}, {'connected_gene': 'GC04P120921', 'score': 550.77}]
chr4 GH04I120849 120849251 120850591 0.38 [{'connected_gene': 'PRDM5', 'score': 5.75}, {'connected_gene': 'GC04M120830', 'score': 0.37}, {'connected_gene': 'SETP12', 'score': 0.25}]
chr4 GH04I120772 120772708 120774138 0.46 [{'connected_gene': 'PRDM5', 'score': 10.91}, {'connected_gene': 'GC04P120811', 'score': 0.28}, {'connected_gene': 'ENSG00000249409', 'score': 0.12}]
chr4 GH04I120801 120801200 120801715 0.66 [{'connected_gene': 'PRDM5', 'score': 8.93}, {'connected_gene': 'GC04P120811', 'score': 0.44}, {'connected_gene': 'ENSG00000249409', 'score': 0.1}]
chr4 GH04I120762 120762185 120765976 0.43 [{'connected_gene': 'PRDM5', 'score': 7.33}, {'connected_gene': 'GC04P120811', 'score': 0.25}, {'connected_gene': 'ENSG00000249409', 'score': 0.13}]
chr4 GH04I120755 120755186 120756059 0.2 [{'connected_gene': 'PRDM5', 'score': 8.29}, {'connected_gene': 'GC04P120811', 'score': 0.23}, {'connected_gene': 'ENSG00000249409', 'score': 0.13}]
chr4 GH04I120769 120769215 120769975 0.74 [{'connected_gene': 'PRDM5', 'score': 19.61}, {'connected_gene': 'GC04P120811', 'score': 0.26}, {'connected_gene': 'ENSG00000249409', 'score': 0.12}]
chr4 GH04I120703 120703492 120705282 0.2 [{'connected_gene': 'PRDM5', 'score': 5.92}, {'connected_gene': 'ENSG00000249409', 'score': 0.2}, {'connected_gene': 'GC04P120811', 'score': 0.14}]
chr4 GH04I120816 120815526 120815675 0.2 [{'connected_gene': 'RNU6-550P', 'score': 0.44}, {'connected_gene': 'GC04M120830', 'score': 0.37}, {'connected_gene': 'PRDM5', 'score': 0.14}]
chr4 GH04I120870 120870446 120870595 0.38 [{'connected_gene': 'SETP12', 'score': 0.31}, {'connected_gene': 'GC04M120830', 'score': 0.28}, {'connected_gene': 'PRDM5', 'score': 0.23}]
chr4 GH04I120920 120920401 120920600 0.31 [{'connected_gene': 'GC04P120921', 'score': 550.77}, {'connected_gene': 'PRDM5', 'score': 0.77}, {'connected_gene': 'SETP12', 'score': 0.34}]
chr4 GH04I120692 120692532 120693775 0.76 [{'connected_gene': 'ENSG00000249409', 'score': 0.23}, {'connected_gene': 'GC04P120811', 'score': 0.13}, {'connected_gene': 'PRDM5', 'score': 0.07}]
chr4 GH04I120760 120760464 120761715 0.2 [{'connected_gene': 'GC04P120811', 'score': 0.25}, {'connected_gene': 'ENSG00000249409', 'score': 0.13}, {'connected_gene': 'PRDM5', 'score': 0.1}]
chr4 GH04I120749 120749526 120749843 0.95 [{'connected_gene': 'GC04P120811', 'score': 0.21}, {'connected_gene': 'ENSG00000249409', 'score': 0.14}, {'connected_gene': 'PRDM5', 'score': 0.09}]