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
ENST00000374126 [[116638561, 116638693], [116731396, 116731440], [116750600, 116750860], [116760538, 116760634], [116764275, 116764353], [116764903, 116764942], [116769629, 116769719], [116770623, 116770659], [116770756, 116770834], [116778974, 116779064], [116791012, 116791252], [116794924, 116795008], [116798579, 116798657], [116810172, 116810274], [116810930, 116812501]] [[116638660, 116638693], [116731396, 116731440], [116750600, 116750860], [116760538, 116760634], [116764275, 116764353], [116764903, 116764942], [116769629, 116769719], [116770623, 116770659], [116770756, 116770834], [116778974, 116779064], [116791012, 116791252], [116794924, 116795008], [116798579, 116798657], [116810172, 116810274], [116810930, 116812447]]
ENST00000288466 [[116638561, 116638693], [116731396, 116731440], [116750600, 116750860], [116764275, 116764353], [116764903, 116764942], [116769629, 116769719], [116770623, 116770659], [116770756, 116770834], [116778392, 116778452], [116778974, 116779064], [116794927, 116795008], [116798579, 116798657], [116810172, 116810274], [116810930, 116818871]] [[116638660, 116638693], [116731396, 116731440], [116750600, 116750860], [116764275, 116764353], [116764903, 116764942], [116769629, 116769719], [116770623, 116770659], [116770756, 116770834], [116778392, 116778452], [116778974, 116779064], [116794927, 116795008], [116798579, 116798657], [116810172, 116810274], [116810930, 116812447]]
ENST00000452710 [[116638629, 116638693], [116731396, 116731440], [116750600, 116750860], [116764275, 116764353], [116764903, 116764942], [116769629, 116769719], [116770756, 116770834], [116778392, 116778452], [116778974, 116779064], [116791189, 116791252], [116794927, 116795003]] [[116638660, 116638693], [116731396, 116731440], [116750600, 116750860], [116764275, 116764353], [116764903, 116764942], [116769629, 116769719], [116770756, 116770834], [116778392, 116778452], [116778974, 116779064], [116791189, 116791252], [116794927, 116795003]]
ENST00000374124 [[116638629, 116638693], [116731396, 116731440], [116750600, 116750860], [116764275, 116764353], [116764903, 116764942], [116769629, 116769719], [116770623, 116770659], [116770756, 116770834], [116778392, 116778452], [116778974, 116779064], [116791012, 116791252], [116794927, 116795004]] [[116638660, 116638693], [116731396, 116731440], [116750600, 116750860], [116764275, 116764353], [116764903, 116764942], [116769629, 116769719], [116770623, 116770659], [116770756, 116770834], [116778392, 116778452], [116778974, 116779064], [116791012, 116791252], [116794927, 116795004]]
ENST00000481558 [[116638661, 116638693], [116731396, 116731440], [116750600, 116750860], [116764275, 116764353], [116764903, 116764942], [116769629, 116769719], [116770623, 116770659], [116770756, 116770834], [116778392, 116778452], [116778974, 116779064], [116791012, 116791252], [116793083, 116793162]] None
ENST00000470105 [[116790200, 116791252], [116794924, 116795008], [116797470, 116797515], [116798579, 116798657], [116810172, 116810274], [116810930, 116812501]] None
NM_001318040 [[116638561, 116638693], [116731396, 116731440], [116750600, 116750860], [116764275, 116764353], [116764903, 116764942], [116769629, 116769719], [116770623, 116770659], [116770756, 116770834], [116778974, 116779064], [116791012, 116791252], [116794927, 116795008], [116798579, 116798657], [116810172, 116810274], [116810930, 116818875]] [[116638660, 116638693], [116731396, 116731440], [116750600, 116750860], [116764275, 116764353], [116764903, 116764942], [116769629, 116769719], [116770623, 116770659], [116770756, 116770834], [116778974, 116779064], [116791012, 116791252], [116794927, 116795008], [116798579, 116798657], [116810172, 116810274], [116810930, 116812447]]
NM_001318041 [[116638561, 116638693], [116731396, 116731440], [116750600, 116750860], [116764275, 116764353], [116764903, 116764942], [116769629, 116769719], [116770623, 116770659], [116770756, 116770834], [116778974, 116779064], [116791012, 116791252], [116794924, 116795008], [116798579, 116798657], [116810172, 116810274], [116810930, 116818875]] [[116638660, 116638693], [116731396, 116731440], [116750600, 116750860], [116764275, 116764353], [116764903, 116764942], [116769629, 116769719], [116770623, 116770659], [116770756, 116770834], [116778974, 116779064], [116791012, 116791252], [116794924, 116795008], [116798579, 116798657], [116810172, 116810274], [116810930, 116812447]]
NM_133374 [[116638561, 116638693], [116731396, 116731440], [116750600, 116750860], [116764275, 116764353], [116764903, 116764942], [116769629, 116769719], [116770623, 116770659], [116770756, 116770834], [116778392, 116778452], [116778974, 116779064], [116794927, 116795008], [116798579, 116798657], [116810172, 116810274], [116810930, 116818875]] [[116638660, 116638693], [116731396, 116731440], [116750600, 116750860], [116764275, 116764353], [116764903, 116764942], [116769629, 116769719], [116770623, 116770659], [116770756, 116770834], [116778392, 116778452], [116778974, 116779064], [116794927, 116795008], [116798579, 116798657], [116810172, 116810274], [116810930, 116812447]]
NM_001318042 [[116638561, 116638693], [116731396, 116731440], [116750600, 116750860], [116760538, 116760634], [116764275, 116764353], [116764903, 116764942], [116769629, 116769719], [116770623, 116770659], [116770756, 116770834], [116778974, 116779064], [116791012, 116791252], [116794924, 116795008], [116798579, 116798657], [116810172, 116810274], [116810930, 116818875]] [[116638660, 116638693], [116731396, 116731440], [116750600, 116750860], [116760538, 116760634], [116764275, 116764353], [116764903, 116764942], [116769629, 116769719], [116770623, 116770659], [116770756, 116770834], [116778974, 116779064], [116791012, 116791252], [116794924, 116795008], [116798579, 116798657], [116810172, 116810274], [116810930, 116812447]]
Promoter
Chrom Start End Description
chr9 116638565 116638606 CAGE_peak_1_at_ZNF618_5end
chr9 116638634 116638664 CAGE_peak_2_at_ZNF618_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I114586 114586628 114593867 2.51 [{'connected_gene': 'ATP6V1G1', 'score': 551.87}, {'connected_gene': 'WHRN', 'score': 44.41}, {'connected_gene': 'ZNF618', 'score': 13.24}, {'connected_gene': 'ENSG00000201749', 'score': 12.96}, {'connected_gene': 'COL27A1', 'score': 10.64}, {'connected_gene': 'TMEM268', 'score': 4.71}, {'connected_gene': 'TNFSF8', 'score': 1.77}, {'connected_gene': 'AKNA', 'score': 1.16}, {'connected_gene': 'PIR33481', 'score': 0.44}, {'connected_gene': 'GC09P114599', 'score': 0.44}]
chr9 GH09I113011 113011601 113012830 1.1 [{'connected_gene': 'PRPF4', 'score': 20.71}, {'connected_gene': 'ZFP37', 'score': 12.5}, {'connected_gene': 'CDC26', 'score': 11.57}, {'connected_gene': 'ZNF618', 'score': 11.46}, {'connected_gene': 'PIR31639', 'score': 0.37}, {'connected_gene': 'ZNF883', 'score': 0.28}]
chr9 GH09I113964 113964156 113967838 1.68 [{'connected_gene': 'COL27A1', 'score': 9.75}, {'connected_gene': 'AMBP', 'score': 1.83}, {'connected_gene': 'GC09P114664', 'score': 0.17}, {'connected_gene': 'ZNF618', 'score': 0.17}]
chr9 GH09I113973 113973251 113974860 0.56 [{'connected_gene': 'COL27A1', 'score': 9.74}, {'connected_gene': 'GC09P114664', 'score': 0.18}, {'connected_gene': 'ZNF618', 'score': 0.15}]
chr9 GH09I113952 113952239 113959055 1.04 [{'connected_gene': 'ZFP37', 'score': 14.98}, {'connected_gene': 'ZNF618', 'score': 5.77}, {'connected_gene': 'GC09P114664', 'score': 0.15}]
chr9 GH09I113673 113673877 113677168 1.19 [{'connected_gene': 'BSPRY', 'score': 5.23}, {'connected_gene': 'ZNF618', 'score': 4.28}, {'connected_gene': 'LOC105376223', 'score': 0.31}, {'connected_gene': 'LOC100288542', 'score': 0.18}]
chr9 GH09I113992 113992298 113993400 1.04 [{'connected_gene': 'ORM2', 'score': 16.3}, {'connected_gene': 'AMBP', 'score': 15.09}, {'connected_gene': 'ORM1', 'score': 6.42}, {'connected_gene': 'COL27A1', 'score': 4.61}, {'connected_gene': 'GC09P114664', 'score': 0.21}, {'connected_gene': 'ZNF618', 'score': 0.13}]
chr9 GH09I114558 114557741 114557890 0.82 [{'connected_gene': 'WHRN', 'score': 31.34}, {'connected_gene': 'ZNF618', 'score': 13.24}, {'connected_gene': 'COL27A1', 'score': 10.64}, {'connected_gene': 'LOC105376229', 'score': 0.44}]
chr9 GH09I114501 114501262 114506282 2.18 [{'connected_gene': 'WHRN', 'score': 562.99}, {'connected_gene': 'ZNF618', 'score': 9.67}, {'connected_gene': 'LOC105376228', 'score': 0.39}]
chr9 GH09I113150 113150361 113156607 2.49 [{'connected_gene': 'SLC31A2', 'score': 565.56}, {'connected_gene': 'PIR43385', 'score': 550.77}, {'connected_gene': 'PRPF4', 'score': 20.19}, {'connected_gene': 'ZNF618', 'score': 13.24}, {'connected_gene': 'COL27A1', 'score': 10.62}, {'connected_gene': 'FKBP15', 'score': 7.34}, {'connected_gene': 'BSPRY', 'score': 7.28}, {'connected_gene': 'LOC105376223', 'score': 5.81}, {'connected_gene': 'WDR31', 'score': 5.72}, {'connected_gene': 'SNX30', 'score': 5.48}, {'connected_gene': 'RGS3', 'score': 2.45}, {'connected_gene': 'SLC46A2', 'score': 1.6}, {'connected_gene': 'GC09M113167', 'score': 0.44}]
chr9 GH09I113695 113695433 113696867 0.8 [{'connected_gene': 'ZNF618', 'score': 16.35}, {'connected_gene': 'PRPF4', 'score': 12.39}, {'connected_gene': 'FKBP15', 'score': 4.85}, {'connected_gene': 'BSPRY', 'score': 2.73}, {'connected_gene': 'LOC105376223', 'score': 0.25}, {'connected_gene': 'LOC100288542', 'score': 0.21}]
chr9 GH09I114557 114557896 114559415 0.9 [{'connected_gene': 'ZNF618', 'score': 13.24}, {'connected_gene': 'COL27A1', 'score': 10.64}, {'connected_gene': 'WHRN', 'score': 4.49}, {'connected_gene': 'LOC105376229', 'score': 0.44}]
chr9 GH09I113687 113687903 113688393 0.66 [{'connected_gene': 'ZNF618', 'score': 4.91}, {'connected_gene': 'BSPRY', 'score': 2.99}, {'connected_gene': 'LOC105376223', 'score': 0.26}, {'connected_gene': 'LOC100288542', 'score': 0.19}]
chr9 GH09I113692 113692289 113692616 0.46 [{'connected_gene': 'ZNF618', 'score': 4.55}, {'connected_gene': 'BSPRY', 'score': 2.57}, {'connected_gene': 'LOC105376223', 'score': 0.26}, {'connected_gene': 'LOC100288542', 'score': 0.2}]
chr9 GH09I113720 113720581 113720813 0.61 [{'connected_gene': 'ZNF618', 'score': 4.03}, {'connected_gene': 'BSPRY', 'score': 2.6}, {'connected_gene': 'LOC100288542', 'score': 0.28}, {'connected_gene': 'LOC105376223', 'score': 0.19}]
chr9 GH09I114003 114003160 114005185 0.51 [{'connected_gene': 'ZNF618', 'score': 4.89}, {'connected_gene': 'SLC31A1', 'score': 4.66}, {'connected_gene': 'GC09P114664', 'score': 0.23}]
chr9 GH09I113885 113885590 113887821 0.83 [{'connected_gene': 'ZNF618', 'score': 7.07}, {'connected_gene': 'GC09P114664', 'score': 0.1}]
chr9 GH09I113987 113987849 113991491 0.69 [{'connected_gene': 'ZNF618', 'score': 5.09}, {'connected_gene': 'GC09P114664', 'score': 0.2}]
chr9 GH09I113906 113906129 113907396 0.8 [{'connected_gene': 'ZNF618', 'score': 9.18}, {'connected_gene': 'GC09P114664', 'score': 0.11}]
chr9 GH09I113884 113884801 113885210 1.05 [{'connected_gene': 'ZNF618', 'score': 0.44}, {'connected_gene': 'GC09P114664', 'score': 0.09}]
chr9 GH09I113929 113929346 113930954 0.88 [{'connected_gene': 'ZNF618', 'score': 6.36}, {'connected_gene': 'GC09P114664', 'score': 0.13}]
chr9 GH09I113919 113919843 113920480 0.49 [{'connected_gene': 'ZNF618', 'score': 0.26}, {'connected_gene': 'GC09P114664', 'score': 0.12}]
chr9 GH09I113912 113912615 113914130 0.38 [{'connected_gene': 'ZNF618', 'score': 0.28}, {'connected_gene': 'GC09P114664', 'score': 0.11}]
chr9 GH09I113879 113879480 113880637 0.82 [{'connected_gene': 'ZNF618', 'score': 0.77}, {'connected_gene': 'GC09P114664', 'score': 0.1}]
chr9 GH09I113909 113909453 113911161 0.54 [{'connected_gene': 'ZNF618', 'score': 0.29}, {'connected_gene': 'GC09P114664', 'score': 0.11}]
chr9 GH09I113875 113875601 113878001 1.72 [{'connected_gene': 'ZNF618', 'score': 550.77}, {'connected_gene': 'GC09P114664', 'score': 0.1}]
chr9 GH09I113963 113963121 113963270 0.49 [{'connected_gene': 'ZNF618', 'score': 0.17}, {'connected_gene': 'GC09P114664', 'score': 0.16}]
chr9 GH09I113933 113933032 113933917 0.2 [{'connected_gene': 'ZNF618', 'score': 0.22}, {'connected_gene': 'GC09P114664', 'score': 0.13}]
chr9 GH09I113916 113916000 113916565 0.2 [{'connected_gene': 'ZNF618', 'score': 0.26}, {'connected_gene': 'GC09P114664', 'score': 0.12}]
chr9 GH09I113941 113941801 113942200 0.2 [{'connected_gene': 'ZNF618', 'score': 0.2}, {'connected_gene': 'GC09P114664', 'score': 0.14}]
chr9 GH09I114037 114037827 114038748 0.38 [{'connected_gene': 'KIF12', 'score': 4.92}, {'connected_gene': 'GC09P114664', 'score': 0.37}, {'connected_gene': 'ZNF618', 'score': 0.1}]
chr9 GH09I113613 113613852 113617841 1.16 [{'connected_gene': 'LOC105376222', 'score': 550.77}, {'connected_gene': 'ENSG00000282897', 'score': 550.77}, {'connected_gene': 'C9orf43', 'score': 26.93}, {'connected_gene': 'ZFP37', 'score': 13.09}, {'connected_gene': 'ZNF618', 'score': 9.91}, {'connected_gene': 'POLE3', 'score': 6.58}, {'connected_gene': 'ALAD', 'score': 5.21}]
chr9 GH09I113993 113993823 113994785 0.69 [{'connected_gene': 'GC09P114664', 'score': 0.21}, {'connected_gene': 'ZNF618', 'score': 0.13}]
chr9 GH09I113994 113993653 113993690 0.2 [{'connected_gene': 'GC09P114664', 'score': 0.21}, {'connected_gene': 'ZNF618', 'score': 0.13}]
chr9 GH09I114033 114032601 114032750 0.2 [{'connected_gene': 'GC09P114664', 'score': 0.34}, {'connected_gene': 'ZNF618', 'score': 0.1}]
chr9 GH09I114032 114032901 114033050 0.2 [{'connected_gene': 'GC09P114664', 'score': 0.34}, {'connected_gene': 'ZNF618', 'score': 0.1}]

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