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
ENST00000589630 [[32820993, 32821073], [32822354, 32822964]] None
ENST00000601719 [[32820999, 32821035], [32822354, 32822850]] [[32822434, 32822850]]
ENST00000591206 [[32821000, 32821073], [32822354, 32822848], [32823115, 32824064]] [[32822434, 32822848], [32823115, 32823325]]
ENST00000330501 [[32821000, 32821073], [32822354, 32822848], [32823115, 32823257], [32825225, 32827153]] [[32822434, 32822848], [32823115, 32823257], [32825225, 32826274]]
ENST00000589420 [[32821014, 32821073], [32823115, 32823257], [32825225, 32825315], [32834195, 32834366], [32837891, 32838013], [32846656, 32847097]] None
ENST00000261333 [[32821018, 32821073], [32822354, 32822848], [32823115, 32823257], [32825225, 32825315], [32834195, 32834366], [32837891, 32838358]] [[32822434, 32822848], [32823115, 32823257], [32825225, 32825315], [32834195, 32834366], [32837891, 32837902]]
ENST00000355632 [[32821018, 32821073], [32822354, 32822848], [32823115, 32823257], [32834195, 32834366], [32837891, 32839191]] [[32822434, 32822848], [32823115, 32823257], [32834195, 32834366], [32837891, 32837902]]
ENST00000585800 [[32821020, 32821654], [32822354, 32822848], [32823115, 32824033]] [[32822434, 32822848], [32823115, 32823325]]
ENST00000592264 [[32822353, 32822848], [32823115, 32823257], [32837891, 32838358]] [[32822434, 32822848], [32823115, 32823257], [32837891, 32837902]]
ENST00000588119 [[32822436, 32822905], [32823115, 32823248]] [[32822436, 32822905], [32823115, 32823248]]
ENST00000590470 [[32822758, 32822916], [32823115, 32823202]] None
ENST00000591505 [[32834160, 32834366], [32837891, 32838243]] None
NM_001135178 [[32820993, 32821073], [32822354, 32822848], [32823115, 32823257], [32825225, 32827153]] [[32822434, 32822848], [32823115, 32823257], [32825225, 32826274]]
NM_032347 [[32820993, 32821073], [32822354, 32822848], [32823115, 32823257], [32825225, 32825315], [32834195, 32834366], [32837891, 32838397]] [[32822434, 32822848], [32823115, 32823257], [32825225, 32825315], [32834195, 32834366], [32837891, 32837902]]
Promoter
Chrom Start End Description
chr18 32820990 32821031 CAGE_peak_1_at_ZNF397_5end
chr18 32821037 32821057 CAGE_peak_2_at_ZNF397_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 GH18I035701 35701853 35704553 0.8 [{'connected_gene': 'ZNF397', 'score': 19.44}, {'connected_gene': 'ELP2', 'score': 13.52}, {'connected_gene': 'ENSG00000268573', 'score': 12.69}, {'connected_gene': 'ENSG00000267583', 'score': 10.1}, {'connected_gene': 'GALNT1', 'score': 5.51}, {'connected_gene': 'INO80C', 'score': 4.54}, {'connected_gene': 'LOC105372064', 'score': 0.44}, {'connected_gene': 'GC18P035714', 'score': 0.39}]
chr18 GH18I035412 35412801 35413000 0.38 [{'connected_gene': 'ZNF397', 'score': 14.78}, {'connected_gene': 'ELP2', 'score': 13.94}, {'connected_gene': 'GALNT1', 'score': 11.44}, {'connected_gene': 'LOC105372063', 'score': 0.77}, {'connected_gene': 'ENSG00000267583', 'score': 0.23}]
chr18 GH18I035239 35239977 35242474 2.06 [{'connected_gene': 'ZNF397', 'score': 550.77}, {'connected_gene': 'ENSG00000268573', 'score': 26.86}, {'connected_gene': 'ZNF396', 'score': 6.53}, {'connected_gene': 'ZNF24', 'score': 5.1}, {'connected_gene': 'PIR50065', 'score': 0.44}]
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 GH18I035343 35343193 35346585 2.58 [{'connected_gene': 'ZNF24', 'score': 556.0}, {'connected_gene': 'PIR42340', 'score': 550.77}, {'connected_gene': 'PIR57079', 'score': 550.77}, {'connected_gene': 'GC18P035348', 'score': 550.77}, {'connected_gene': 'ZNF396', 'score': 19.4}, {'connected_gene': 'ZNF397', 'score': 14.94}, {'connected_gene': 'MAPRE2', 'score': 9.25}, {'connected_gene': 'ZNF271P', 'score': 5.26}, {'connected_gene': 'GC18M035337', 'score': 0.44}]
chr18 GH18I036127 36127934 36133133 2.31 [{'connected_gene': 'ELP2', 'score': 588.47}, {'connected_gene': 'SLC39A6', 'score': 550.77}, {'connected_gene': 'ENSG00000268573', 'score': 42.41}, {'connected_gene': 'ZNF397', 'score': 24.3}, {'connected_gene': 'KIAA1328', 'score': 11.6}, {'connected_gene': 'LOC101927809', 'score': 10.84}, {'connected_gene': 'MOCOS', 'score': 9.42}, {'connected_gene': 'LOC791126', 'score': 4.2}, {'connected_gene': 'PIR50550', 'score': 0.31}]
chr18 GH18I035605 35605802 35606399 0.56 [{'connected_gene': 'GALNT1', 'score': 11.9}, {'connected_gene': 'ENSG00000268573', 'score': 11.38}, {'connected_gene': 'ZNF397', 'score': 11.17}, {'connected_gene': 'ENSG00000266965', 'score': 0.39}, {'connected_gene': 'LOC105372065', 'score': 0.19}]
chr18 GH18I035606 35605488 35605563 0.27 [{'connected_gene': 'GALNT1', 'score': 12.9}, {'connected_gene': 'ZNF397', 'score': 1.17}, {'connected_gene': 'ENSG00000266965', 'score': 0.44}, {'connected_gene': 'LOC105372065', 'score': 0.19}]
chr18 GH18I035230 35230957 35231400 1.06 [{'connected_gene': 'ZNF396', 'score': 10.65}, {'connected_gene': 'ZSCAN30', 'score': 4.26}, {'connected_gene': 'ZNF397', 'score': 0.44}, {'connected_gene': 'PIR47170', 'score': 0.44}]
chr18 GH18I034492 34492677 34494800 1.97 [{'connected_gene': 'DTNA', 'score': 550.77}, {'connected_gene': 'ZNF397', 'score': 10.68}, {'connected_gene': 'ZSCAN30', 'score': 4.06}, {'connected_gene': 'RPL10AP13', 'score': 0.18}]
chr18 GH18I035220 35220094 35220200 0.22 [{'connected_gene': 'DTNA', 'score': 2.73}, {'connected_gene': 'ZNF397', 'score': 1.7}, {'connected_gene': 'PIR47170', 'score': 0.77}, {'connected_gene': 'ENSG00000274400', 'score': 0.18}]
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 GH18I035037 35037696 35044297 2.51 [{'connected_gene': 'MAPRE2', 'score': 576.29}, {'connected_gene': 'ZNF397', 'score': 12.72}, {'connected_gene': 'ENSG00000267397', 'score': 4.71}, {'connected_gene': 'ZNF24', 'score': 1.77}, {'connected_gene': 'ENSG00000280096', 'score': 0.26}]
chr18 GH18I034976 34976052 34979998 2.59 [{'connected_gene': 'MAPRE2', 'score': 567.27}, {'connected_gene': 'ZNF397', 'score': 11.56}, {'connected_gene': 'ZNF396', 'score': 3.34}, {'connected_gene': 'ZNF24', 'score': 2.24}, {'connected_gene': 'ENSG00000280096', 'score': 0.15}]
chr18 GH18I035044 35044360 35047225 0.77 [{'connected_gene': 'MAPRE2', 'score': 22.18}, {'connected_gene': 'ZNF397', 'score': 10.23}, {'connected_gene': 'ENSG00000280096', 'score': 0.28}]
chr18 GH18I035092 35092034 35092553 0.67 [{'connected_gene': 'MAPRE2', 'score': 4.54}, {'connected_gene': 'ZNF24', 'score': 2.39}, {'connected_gene': 'ZNF397', 'score': 1.63}, {'connected_gene': 'ENSG00000280096', 'score': 0.39}, {'connected_gene': 'ENSG00000274400', 'score': 0.23}]
chr18 GH18I034947 34947257 34948305 1.2 [{'connected_gene': 'MAPRE2', 'score': 17.85}, {'connected_gene': 'DTNA', 'score': 3.04}, {'connected_gene': 'ZNF397', 'score': 1.3}, {'connected_gene': 'LOC105372061', 'score': 0.26}]
chr18 GH18I034859 34859382 34859750 0.22 [{'connected_gene': 'MAPRE2', 'score': 12.61}, {'connected_gene': 'DTNA', 'score': 10.43}, {'connected_gene': 'ZNF24', 'score': 1.93}, {'connected_gene': 'ZNF397', 'score': 1.21}, {'connected_gene': 'LOC105372061', 'score': 0.25}, {'connected_gene': 'ENSG00000268873', 'score': 0.16}]
chr18 GH18I035249 35249710 35249817 0.22 [{'connected_gene': 'ZSCAN30', 'score': 5.15}, {'connected_gene': 'ZNF397', 'score': 2.71}, {'connected_gene': 'PIR50065', 'score': 0.77}, {'connected_gene': 'PIR48276', 'score': 0.77}]
chr18 GH18I035266 35266817 35268626 1.59 [{'connected_gene': 'ZSCAN30', 'score': 561.94}, {'connected_gene': 'ENSG00000274184', 'score': 550.77}, {'connected_gene': 'ZNF24', 'score': 7.17}, {'connected_gene': 'ENSG00000279989', 'score': 0.39}, {'connected_gene': 'ZNF397', 'score': 0.31}]
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 GH18I035246 35246649 35248152 0.46 [{'connected_gene': 'PIR50065', 'score': 550.77}, {'connected_gene': 'ZNF24', 'score': 6.85}, {'connected_gene': 'MAPRE2', 'score': 6.52}, {'connected_gene': 'ZNF396', 'score': 6.28}, {'connected_gene': 'ZNF397', 'score': 0.44}, {'connected_gene': 'PIR48276', 'score': 0.44}]
chr18 GH18I035613 35613105 35620590 1.13 [{'connected_gene': 'ENSG00000268573', 'score': 24.07}, {'connected_gene': 'GALNT1', 'score': 17.07}, {'connected_gene': 'ZNF397', 'score': 13.78}, {'connected_gene': 'SLC39A6', 'score': 4.89}, {'connected_gene': 'ENSG00000266965', 'score': 0.34}, {'connected_gene': 'LOC105372065', 'score': 0.21}]
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}]