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
ENST00000592875 [[33552045, 33552768], [33552847, 33552870], [33554858, 33555058], [33557372, 33557563], [33558797, 33559241]] [[33552691, 33552768], [33552847, 33552870], [33554858, 33555058], [33557372, 33557563], [33558797, 33558969]]
ENST00000269194 [[33552596, 33552803], [33554858, 33555058], [33557372, 33557563], [33558797, 33558902]] [[33555022, 33555058], [33557372, 33557563], [33558797, 33558902]]
ENST00000587873 [[33552644, 33552870], [33554858, 33555058], [33557372, 33557563], [33558797, 33558836]] [[33555022, 33555058], [33557372, 33557563], [33558797, 33558836]]
ENST00000333234 [[33552747, 33552870], [33554858, 33555058], [33557372, 33557563], [33558797, 33559241]] [[33555022, 33555058], [33557372, 33557563], [33558797, 33558969]]
ENST00000587719 [[33552643, 33552768], [33552847, 33553303]] None
ENST00000593210 [[33552675, 33552803], [33553554, 33553611]] None
NM_001201476 [[33552587, 33552768], [33552847, 33552870], [33554858, 33555058], [33558797, 33559250]] [[33552691, 33552768], [33552847, 33552870], [33554858, 33555058], [33558797, 33558890]]
NM_031446 [[33552587, 33552768], [33552847, 33552870], [33554858, 33555058], [33557372, 33557563], [33558797, 33559250]] [[33552691, 33552768], [33552847, 33552870], [33554858, 33555058], [33557372, 33557563], [33558797, 33558969]]
NM_001201474 [[33552587, 33552803], [33554858, 33555058], [33557372, 33557563], [33558797, 33559250]] [[33555022, 33555058], [33557372, 33557563], [33558797, 33558969]]
NM_001201475 [[33552587, 33552870], [33554858, 33555058], [33557372, 33557563], [33558797, 33559250]] [[33555022, 33555058], [33557372, 33557563], [33558797, 33558969]]
Promoter
Chrom Start End Description
chr18 33552615 33552665 CAGE_peak_1_at_C18orf21_5end
chr18 33552667 33552684 CAGE_peak_2_at_C18orf21_5end
chr18 33552817 33552839 CAGE_peak_6_at_C18orf21_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
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 GH18I036301 36301674 36302710 0.38 [{'connected_gene': 'C18orf21', 'score': 9.73}, {'connected_gene': 'FHOD3', 'score': 0.77}, {'connected_gene': 'GC18P036374', 'score': 0.19}]
chr18 GH18I035938 35938318 35938467 0.31 [{'connected_gene': 'C18orf21', 'score': 11.71}, {'connected_gene': 'MIR187', 'score': 11.14}, {'connected_gene': 'MIR3929', 'score': 0.77}, {'connected_gene': 'GC18P035965', 'score': 0.31}]
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 GH18I036172 36172372 36173101 0.2 [{'connected_gene': 'ELP2', 'score': 33.31}, {'connected_gene': 'C18orf21', 'score': 9.53}, {'connected_gene': 'LOC791126', 'score': 4.32}, {'connected_gene': 'GC18P036175', 'score': 0.77}, {'connected_gene': 'PIR50550', 'score': 0.37}]
chr18 GH18I036169 36169576 36170323 0.2 [{'connected_gene': 'ELP2', 'score': 33.31}, {'connected_gene': 'C18orf21', 'score': 9.28}, {'connected_gene': 'GC18P036175', 'score': 0.44}, {'connected_gene': 'PIR50550', 'score': 0.39}]
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 GH18I036302 36302780 36304131 0.46 [{'connected_gene': 'MOCOS', 'score': 10.57}, {'connected_gene': 'C18orf21', 'score': 9.66}, {'connected_gene': 'FHOD3', 'score': 0.44}, {'connected_gene': 'GC18P036374', 'score': 0.19}]
chr18 GH18I035683 35683157 35683246 0.2 [{'connected_gene': 'GALNT1', 'score': 10.95}, {'connected_gene': 'C18orf21', 'score': 9.68}, {'connected_gene': 'LOC105372065', 'score': 0.44}, {'connected_gene': 'LOC105372064', 'score': 0.39}]
chr18 GH18I035654 35654512 35654571 0.5 [{'connected_gene': 'GALNT1', 'score': 550.19}, {'connected_gene': 'C18orf21', 'score': 9.38}, {'connected_gene': 'LOC105372065', 'score': 0.34}, {'connected_gene': 'ENSG00000266965', 'score': 0.22}]
chr18 GH18I035494 35493946 35494760 0.66 [{'connected_gene': 'ZNF396', 'score': 10.37}, {'connected_gene': 'C18orf21', 'score': 10.13}, {'connected_gene': 'INO80C', 'score': 8.29}, {'connected_gene': 'ENSG00000267140', 'score': 0.77}, {'connected_gene': 'ENSG00000279074', 'score': 0.39}]
chr18 GH18I035487 35487897 35492256 0.92 [{'connected_gene': 'ZNF396', 'score': 10.38}, {'connected_gene': 'C18orf21', 'score': 10.12}, {'connected_gene': 'INO80C', 'score': 6.25}, {'connected_gene': 'ENSG00000279074', 'score': 0.44}, {'connected_gene': 'ENSG00000267140', 'score': 0.44}]
chr18 GH18I035493 35493774 35493940 0.75 [{'connected_gene': 'ZNF396', 'score': 10.37}, {'connected_gene': 'C18orf21', 'score': 10.13}, {'connected_gene': 'INO80C', 'score': 8.29}, {'connected_gene': 'ENSG00000267140', 'score': 0.77}, {'connected_gene': 'ENSG00000279074', 'score': 0.39}]
chr18 GH18I035496 35495201 35495400 0.51 [{'connected_gene': 'ZNF396', 'score': 10.37}, {'connected_gene': 'C18orf21', 'score': 10.13}, {'connected_gene': 'ENSG00000267140', 'score': 0.77}, {'connected_gene': 'INO80C', 'score': 0.77}, {'connected_gene': 'ENSG00000279074', 'score': 0.39}]
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 GH18I035939 35938983 35939926 0.43 [{'connected_gene': 'LOC105372066', 'score': 19.59}, {'connected_gene': 'C18orf21', 'score': 11.71}, {'connected_gene': 'MIR187', 'score': 11.14}, {'connected_gene': 'MIR3929', 'score': 0.44}, {'connected_gene': 'GC18P035965', 'score': 0.31}]
chr18 GH18I035911 35911801 35912600 0.2 [{'connected_gene': 'LOC105372066', 'score': 13.5}, {'connected_gene': 'C18orf21', 'score': 10.61}, {'connected_gene': 'MIR187', 'score': 0.44}, {'connected_gene': 'MIR3929', 'score': 0.34}]
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 GH18I035289 35289144 35291444 2.1 [{'connected_gene': 'ENSG00000268573', 'score': 573.92}, {'connected_gene': 'ZSCAN30', 'score': 555.26}, {'connected_gene': 'ZNF271P', 'score': 550.77}, {'connected_gene': 'ZNF397', 'score': 31.34}, {'connected_gene': 'C18orf21', 'score': 12.57}, {'connected_gene': 'ZNF24', 'score': 8.02}, {'connected_gene': 'GC18M035301', 'score': 0.39}, {'connected_gene': 'PIR53427', 'score': 0.39}]