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
ENST00000587563 [[33564349, 33564674], [33565300, 33565349], [33570488, 33570558], [33573064, 33573263]] [[33573113, 33573263]]
ENST00000585879 [[33564351, 33564491], [33565300, 33565349], [33568694, 33568798], [33570488, 33570558], [33573064, 33573126]] [[33573113, 33573126]]
ENST00000590898 [[33569786, 33570558], [33573064, 33573263], [33606862, 33607038], [33607146, 33607273], [33610770, 33610868], [33610953, 33611060], [33613670, 33613800], [33620769, 33620828], [33647216, 33647493]] [[33573113, 33573263], [33606862, 33607038], [33607146, 33607273], [33610770, 33610868], [33610953, 33611060], [33613670, 33613800], [33620769, 33620812]]
ENST00000399022 [[33569786, 33573263], [33606862, 33607038], [33607146, 33607273], [33610770, 33610868], [33610953, 33611060], [33613670, 33613800], [33647216, 33647539]] [[33573113, 33573263], [33606862, 33607038], [33607146, 33607273], [33610770, 33610868], [33610953, 33611060], [33613670, 33613800], [33647216, 33647367]]
ENST00000337059 [[33569848, 33570558], [33573064, 33573263], [33606862, 33607038], [33607146, 33607273], [33610770, 33610868], [33610953, 33611060], [33613670, 33613800], [33620769, 33620812]] [[33573113, 33573263], [33606862, 33607038], [33607146, 33607273], [33610770, 33610868], [33610953, 33611060], [33613670, 33613800], [33620769, 33620812]]
ENST00000357384 [[33569848, 33570558], [33573064, 33573263], [33606862, 33607038], [33607146, 33607273], [33610770, 33610868], [33610953, 33611060], [33613670, 33613800], [33647216, 33647519]] [[33573113, 33573263], [33606862, 33607038], [33607146, 33607273], [33610770, 33610868], [33610953, 33611060], [33613670, 33613800], [33647216, 33647367]]
ENST00000588737 [[33573002, 33573263], [33606862, 33607038], [33607146, 33607273], [33610770, 33610868], [33610953, 33611060], [33613670, 33613800], [33620769, 33620828], [33647216, 33647522]] [[33573113, 33573263], [33606862, 33607038], [33607146, 33607273], [33610770, 33610868], [33610953, 33611060], [33613670, 33613800], [33620769, 33620812]]
ENST00000585953 [[33605560, 33607038], [33607146, 33607273], [33610770, 33610813]] [[33606838, 33607038], [33607146, 33607273], [33610770, 33610813]]
ENST00000319040 [[33605560, 33605641], [33606862, 33607038], [33607146, 33607273], [33610770, 33610868], [33610953, 33611060], [33613670, 33613800], [33647216, 33647519]] [[33605560, 33605641], [33606862, 33607038], [33607146, 33607273], [33610770, 33610868], [33610953, 33611060], [33613670, 33613800], [33647216, 33647367]]
ENST00000591994 [[33605561, 33607038], [33607146, 33608153]] None
ENST00000589050 [[33605561, 33605641], [33606862, 33607038], [33607146, 33607273], [33610770, 33610868], [33610953, 33611060], [33613670, 33613800], [33647216, 33647520]] [[33605561, 33605641], [33606862, 33607038], [33607146, 33607273], [33610770, 33610868], [33610953, 33611060], [33613670, 33613800], [33647216, 33647367]]
ENST00000592674 [[33613714, 33613800], [33620769, 33620828], [33642940, 33643038], [33647216, 33647539]] [[33642967, 33643038], [33647216, 33647367]]
ENST00000588459 [[33632837, 33632883], [33642940, 33643038], [33643955, 33644387]] None
NM_001303411 [[33569786, 33573263], [33606862, 33607038], [33607146, 33607273], [33610770, 33610868], [33610953, 33611060], [33613670, 33613800], [33620769, 33620828], [33647216, 33647557]] [[33573113, 33573263], [33606862, 33607038], [33607146, 33607273], [33610770, 33610868], [33610953, 33611060], [33613670, 33613800], [33620769, 33620812]]
NM_001303412 [[33569786, 33570558], [33573064, 33573263], [33606862, 33607038], [33607146, 33607273], [33610770, 33610868], [33610953, 33611060], [33613670, 33613800], [33620769, 33620828], [33647216, 33647557]] [[33573113, 33573263], [33606862, 33607038], [33607146, 33607273], [33610770, 33610868], [33610953, 33611060], [33613670, 33613800], [33620769, 33620812]]
NM_018170 [[33569786, 33573263], [33606862, 33607038], [33607146, 33607273], [33610770, 33610868], [33610953, 33611060], [33613670, 33613800], [33647216, 33647557]] [[33573113, 33573263], [33606862, 33607038], [33607146, 33607273], [33610770, 33610868], [33610953, 33611060], [33613670, 33613800], [33647216, 33647367]]
NM_001303413 [[33604851, 33605641], [33606862, 33607038], [33607146, 33607273], [33610770, 33610868], [33610953, 33611060], [33613670, 33613800], [33647216, 33647557]] [[33605560, 33605641], [33606862, 33607038], [33607146, 33607273], [33610770, 33610868], [33610953, 33611060], [33613670, 33613800], [33647216, 33647367]]
Promoter
Chrom Start End Description
chr18 33647320 33647331 CAGE_peak_3_at_RPRD1A_5end
chr18 33647391 33647402 CAGE_peak_2_at_RPRD1A_5end
chr18 33647487 33647547 CAGE_peak_1_at_RPRD1A_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr18 GH18I036403 36403701 36410088 0.46 [{'connected_gene': 'FHOD3', 'score': 11.34}, {'connected_gene': 'RPRD1A', 'score': 9.96}, {'connected_gene': 'GC18P036374', 'score': 0.29}, {'connected_gene': 'LOC105372071', 'score': 0.07}]
chr18 GH18I036527 36527201 36527412 0.45 [{'connected_gene': 'FHOD3', 'score': 1.74}, {'connected_gene': 'RPRD1A', 'score': 1.37}, {'connected_gene': 'LOC105372071', 'score': 0.12}, {'connected_gene': 'GC18P036374', 'score': 0.1}]
chr18 GH18I036075 36075478 36076732 1.06 [{'connected_gene': 'ZNF397', 'score': 19.42}, {'connected_gene': 'ELP2', 'score': 13.71}, {'connected_gene': 'RPRD1A', 'score': 13.25}, {'connected_gene': 'ENSG00000268573', 'score': 12.67}, {'connected_gene': 'MOCOS', 'score': 10.74}, {'connected_gene': 'FHOD3', 'score': 10.42}, {'connected_gene': 'ENSG00000267583', 'score': 10.06}, {'connected_gene': 'C18orf21', 'score': 9.98}, {'connected_gene': 'GC18P036078', 'score': 0.77}]
chr18 GH18I036017 36017601 36018001 0.91 [{'connected_gene': 'C18orf21', 'score': 11.16}, {'connected_gene': 'FHOD3', 'score': 10.65}, {'connected_gene': 'MOCOS', 'score': 10.57}, {'connected_gene': 'GC18M035972', 'score': 0.26}, {'connected_gene': 'RPRD1A', 'score': 0.25}]
chr18 GH18I035967 35967936 35973780 2.1 [{'connected_gene': 'C18orf21', 'score': 561.08}, {'connected_gene': 'LOC105372066', 'score': 560.46}, {'connected_gene': 'ENSG00000278986', 'score': 550.77}, {'connected_gene': 'ENSG00000268573', 'score': 30.01}, {'connected_gene': 'ZNF397', 'score': 21.84}, {'connected_gene': 'ELP2', 'score': 7.43}, {'connected_gene': 'RPRD1A', 'score': 5.36}, {'connected_gene': 'GC18M035972', 'score': 0.77}, {'connected_gene': 'GC18P035965', 'score': 0.44}]
chr18 GH18I036041 36041790 36041849 0.5 [{'connected_gene': 'RPRD1A', 'score': 550.31}, {'connected_gene': 'FHOD3', 'score': 10.51}, {'connected_gene': 'MOCOS', 'score': 10.11}, {'connected_gene': 'GC18M035972', 'score': 0.2}]
chr18 GH18I036065 36065305 36068187 2.03 [{'connected_gene': 'RPRD1A', 'score': 562.71}, {'connected_gene': 'C18orf21', 'score': 10.24}, {'connected_gene': 'LOC105372066', 'score': 8.89}, {'connected_gene': 'GC18M035972', 'score': 0.16}]
chr18 GH18I035861 35861800 35862200 0.43 [{'connected_gene': 'RPRD1A', 'score': 5.41}, {'connected_gene': 'NRBF2P1', 'score': 0.34}, {'connected_gene': 'MIR187', 'score': 0.26}]
chr18 GH18I035848 35848248 35852913 0.56 [{'connected_gene': 'RPRD1A', 'score': 5.11}, {'connected_gene': 'NRBF2P1', 'score': 0.44}, {'connected_gene': 'MIR187', 'score': 0.23}]
chr18 GH18I036096 36096149 36098752 0.71 [{'connected_gene': 'RPRD1A', 'score': 13.19}, {'connected_gene': 'MOCOS', 'score': 10.99}, {'connected_gene': 'FHOD3', 'score': 10.78}, {'connected_gene': 'ELP2', 'score': 6.98}, {'connected_gene': 'GC18M036078', 'score': 0.37}]
chr18 GH18I036098 36098855 36100743 0.62 [{'connected_gene': 'RPRD1A', 'score': 13.07}, {'connected_gene': 'MOCOS', 'score': 11.0}, {'connected_gene': 'FHOD3', 'score': 10.78}, {'connected_gene': 'LOC105372066', 'score': 10.32}, {'connected_gene': 'ELP2', 'score': 5.58}, {'connected_gene': 'GC18M036078', 'score': 0.34}]
chr18 GH18I036101 36101072 36102204 0.49 [{'connected_gene': 'MOCOS', 'score': 11.0}, {'connected_gene': 'FHOD3', 'score': 10.78}, {'connected_gene': 'LOC105372066', 'score': 10.35}, {'connected_gene': 'RPRD1A', 'score': 6.63}, {'connected_gene': 'GC18M036078', 'score': 0.34}, {'connected_gene': 'ELP2', 'score': 0.31}]
chr18 GH18I035825 35825976 35829667 1.23 [{'connected_gene': 'ZNF396', 'score': 6.16}, {'connected_gene': 'RPRD1A', 'score': 4.76}, {'connected_gene': 'C18orf21', 'score': 4.39}, {'connected_gene': 'ZNF24', 'score': 3.65}, {'connected_gene': 'INO80C', 'score': 2.4}, {'connected_gene': 'NRBF2P1', 'score': 0.39}, {'connected_gene': 'ENSG00000267397', 'score': 0.14}]
chr18 GH18I035495 35495482 35498608 2.35 [{'connected_gene': 'INO80C', 'score': 558.31}, {'connected_gene': 'ENSG00000267140', 'score': 550.77}, {'connected_gene': 'ENSG00000268573', 'score': 87.13}, {'connected_gene': 'ZNF397', 'score': 80.97}, {'connected_gene': 'ZSCAN30', 'score': 53.0}, {'connected_gene': 'ELP2', 'score': 48.88}, {'connected_gene': 'RPRD1A', 'score': 29.99}, {'connected_gene': 'C18orf21', 'score': 20.32}, {'connected_gene': 'ZNF271P', 'score': 11.06}, {'connected_gene': 'ZNF396', 'score': 10.37}, {'connected_gene': 'ENSG00000279074', 'score': 0.39}]
chr18 GH18I035949 35949801 35950974 0.98 [{'connected_gene': 'LOC105372066', 'score': 16.53}, {'connected_gene': 'C18orf21', 'score': 11.74}, {'connected_gene': 'RPRD1A', 'score': 4.53}, {'connected_gene': 'GC18P035965', 'score': 0.37}, {'connected_gene': 'MIR3929', 'score': 0.37}]
chr18 GH18I035982 35982103 35984664 0.38 [{'connected_gene': 'LOC105372066', 'score': 11.2}, {'connected_gene': 'C18orf21', 'score': 10.1}, {'connected_gene': 'RPRD1A', 'score': 5.37}, {'connected_gene': 'GC18M035972', 'score': 0.44}]
chr18 GH18I035934 35934058 35934307 0.68 [{'connected_gene': 'MIR3929', 'score': 550.77}, {'connected_gene': 'LOC105372066', 'score': 19.13}, {'connected_gene': 'MIR187', 'score': 11.96}, {'connected_gene': 'C18orf21', 'score': 10.49}, {'connected_gene': 'RPRD1A', 'score': 4.12}, {'connected_gene': 'GC18P035965', 'score': 0.29}]
chr18 GH18I036094 36094224 36095572 0.46 [{'connected_gene': 'ENSG00000268573', 'score': 16.13}, {'connected_gene': 'ZNF397', 'score': 12.09}, {'connected_gene': 'FHOD3', 'score': 10.68}, {'connected_gene': 'MOCOS', 'score': 10.63}, {'connected_gene': 'LOC105372066', 'score': 10.21}, {'connected_gene': 'C18orf21', 'score': 10.0}, {'connected_gene': 'ELP2', 'score': 6.93}, {'connected_gene': 'RPRD1A', 'score': 5.08}, {'connected_gene': 'GC18M036078', 'score': 0.37}]
chr18 GH18I036479 36479821 36483199 0.98 [{'connected_gene': 'ENSG00000267707', 'score': 20.24}, {'connected_gene': 'RPRD1A', 'score': 20.1}, {'connected_gene': 'ELP2', 'score': 12.9}, {'connected_gene': 'KIAA1328', 'score': 9.78}, {'connected_gene': 'GC18P036374', 'score': 0.14}, {'connected_gene': 'FHOD3', 'score': 0.09}, {'connected_gene': 'LOC105372071', 'score': 0.09}]