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
ENST00000381971 [[3827697, 3828408], [3829309, 3829492], [3856008, 3856184], [3879426, 3879595], [3898690, 3898835], [3932359, 3932470], [3937027, 3937189], [4117767, 4118881], [4125733, 4125941], [4286037, 4286523], [4299420, 4299916]] [[3828271, 3828408], [3829309, 3829492], [3856008, 3856184], [3879426, 3879595], [3898690, 3898835], [3932359, 3932470], [3937027, 3937189], [4117767, 4118881], [4125733, 4125941], [4286037, 4286425]]
ENST00000490709 [[4118529, 4118881], [4299420, 4299836]] None
ENST00000481827 [[4118744, 4118881], [4125733, 4125941], [4286037, 4286523], [4298383, 4298496]] [[4118744, 4118881], [4125733, 4125941], [4286037, 4286425]]
ENST00000478844 [[4118744, 4118881], [4125733, 4125941], [4298383, 4298496]] [[4118744, 4118881], [4125733, 4125864]]
ENST00000491889 [[4118744, 4118881], [4286037, 4286523], [4299420, 4299594]] [[4118840, 4118881], [4286037, 4286425]]
ENST00000477901 [[4118744, 4118881], [4125733, 4125941], [4286037, 4286523], [4299420, 4299916]] [[4118744, 4118881], [4125733, 4125941], [4286037, 4286425]]
ENST00000324333 [[3824126, 3828408], [3829309, 3829492], [3856008, 3856184], [3879426, 3879595], [3898690, 3898835], [3932359, 3932470], [3937027, 3937189], [4117767, 4118881], [4125733, 4125941], [4152066, 4152183]] [[3828271, 3828408], [3829309, 3829492], [3856008, 3856184], [3879426, 3879595], [3898690, 3898835], [3932359, 3932470], [3937027, 3937189], [4117767, 4118881], [4125733, 4125864]]
ENST00000461870 [[3825254, 3828408], [3829309, 3829492], [3856008, 3856184], [3879426, 3879595], [3898690, 3898835], [3932359, 3932470], [3937027, 3937189], [3975133, 3975199]] None
ENST00000467497 [[3855436, 3856184], [3879426, 3879595], [3898690, 3898835], [3932359, 3932470], [3937027, 3937189], [4117767, 4118017]] None
ENST00000463680 [[3898253, 3898835], [3932359, 3932470], [3937027, 3937189]] None
ENST00000464391 [[3932359, 3932470], [3932794, 3932918], [3937027, 3937189], [4081227, 4081361]] None
ENST00000471664 [[4285538, 4286523], [4308776, 4308968], [4310400, 4310528], [4347080, 4347183], [4348231, 4348392]] None
ENST00000469833 [[3937093, 3937189], [4034526, 4035042], [4035837, 4035998]] None
ENST00000473846 [[4118744, 4118881], [4144838, 4145193]] None
ENST00000462164 [[4118744, 4118881], [4125733, 4125941], [4144838, 4145193]] [[4118744, 4118881], [4125733, 4125864]]
ENST00000478315 [[4118744, 4118881], [4125733, 4125941], [4147296, 4147644]] [[4118744, 4118881], [4125733, 4125864]]
ENST00000465708 [[4285538, 4286523], [4299420, 4299916]] None
NM_001042413 [[3824127, 3828408], [3829309, 3829492], [3856008, 3856184], [3879426, 3879595], [3898690, 3898835], [3932359, 3932470], [3937027, 3937189], [4117767, 4118881], [4125733, 4125941], [4286037, 4286523], [4299420, 4300035]] [[3828271, 3828408], [3829309, 3829492], [3856008, 3856184], [3879426, 3879595], [3898690, 3898835], [3932359, 3932470], [3937027, 3937189], [4117767, 4118881], [4125733, 4125941], [4286037, 4286425]]
NM_152629 [[3824127, 3828408], [3829309, 3829492], [3856008, 3856184], [3879426, 3879595], [3898690, 3898835], [3932359, 3932470], [3937027, 3937189], [4117767, 4118881], [4125733, 4125941], [4152066, 4152183]] [[3828271, 3828408], [3829309, 3829492], [3856008, 3856184], [3879426, 3879595], [3898690, 3898835], [3932359, 3932470], [3937027, 3937189], [4117767, 4118881], [4125733, 4125864]]
Promoter
Chrom Start End Description
chr9 4117869 4117882 CAGE_peak_12_at_GLIS3_5end
chr9 4299552 4299598 CAGE_peak_5_at_GLIS3_5end
chr9 4299638 4299651 CAGE_peak_8_at_GLIS3_5end
chr9 4299874 4299887 CAGE_peak_9_at_GLIS3_5end
chr9 4299959 4299974 CAGE_peak_4_at_GLIS3_5end
chr9 4299979 4299996 CAGE_peak_3_at_GLIS3_5end
chr9 4300004 4300015 CAGE_peak_6_at_GLIS3_5end
chr9 4300016 4300039 CAGE_peak_2_at_GLIS3_5end
chr9 4300050 4300118 CAGE_peak_1_at_GLIS3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I003879 3879685 3881732 0.8 [{'connected_gene': 'GLIS3-AS1', 'score': 7.09}, {'connected_gene': 'ENSG00000236724', 'score': 0.44}, {'connected_gene': 'GLIS3', 'score': 0.04}]
chr9 GH09I003894 3894861 3895090 0.51 [{'connected_gene': 'GLIS3-AS1', 'score': 5.34}, {'connected_gene': 'ENSG00000236724', 'score': 0.37}, {'connected_gene': 'GLIS3', 'score': 0.05}]
chr9 GH09I003855 3855765 3860065 0.49 [{'connected_gene': 'GLIS3-AS1', 'score': 10.84}, {'connected_gene': 'GC09P003850', 'score': 0.44}, {'connected_gene': 'ENSG00000236724', 'score': 0.37}, {'connected_gene': 'GLIS3', 'score': 0.04}]
chr9 GH09I003899 3899021 3899110 0.2 [{'connected_gene': 'GLIS3-AS1', 'score': 550.77}, {'connected_gene': 'LOC105375964', 'score': 0.19}, {'connected_gene': 'GLIS3', 'score': 0.05}]
chr9 GH09I003920 3920236 3922328 0.76 [{'connected_gene': 'GLIS3-AS1', 'score': 0.34}, {'connected_gene': 'LOC105375964', 'score': 0.23}, {'connected_gene': 'GLIS3', 'score': 0.04}]
chr9 GH09I003930 3930280 3931880 0.2 [{'connected_gene': 'GLIS3-AS1', 'score': 0.29}, {'connected_gene': 'LOC105375964', 'score': 0.26}, {'connected_gene': 'GLIS3', 'score': 0.05}]
chr9 GH09I003916 3916501 3916650 0.58 [{'connected_gene': 'GLIS3-AS1', 'score': 0.37}, {'connected_gene': 'LOC105375964', 'score': 0.22}, {'connected_gene': 'GLIS3', 'score': 0.04}]
chr9 GH09I003758 3758942 3759606 0.51 [{'connected_gene': 'GLIS3', 'score': 8.16}, {'connected_gene': 'LOC105375962', 'score': 0.29}, {'connected_gene': 'ENSG00000226669', 'score': 0.2}]
chr9 GH09I004291 4291234 4303201 2.67 [{'connected_gene': 'GLIS3', 'score': 572.78}, {'connected_gene': 'MTND4P14', 'score': 5.77}, {'connected_gene': 'ENSG00000228322', 'score': 5.4}, {'connected_gene': 'PLPP6', 'score': 4.88}, {'connected_gene': 'GC09M004258', 'score': 0.28}]
chr9 GH09I004174 4174938 4175110 0.34 [{'connected_gene': 'GLIS3', 'score': 1.86}, {'connected_gene': 'GC09P004164', 'score': 0.39}, {'connected_gene': 'PIR36803', 'score': 0.29}]
chr9 GH09I004283 4283058 4283285 0.26 [{'connected_gene': 'GLIS3', 'score': 4.13}, {'connected_gene': 'ENSG00000228322', 'score': 0.37}, {'connected_gene': 'GC09M004258', 'score': 0.34}]
chr9 GH09I004097 4096241 4096390 0.4 [{'connected_gene': 'GLIS3', 'score': 5.84}, {'connected_gene': 'GC09M004083', 'score': 0.44}, {'connected_gene': 'GC09P004164', 'score': 0.2}]
chr9 GH09I004306 4306181 4307063 0.89 [{'connected_gene': 'GLIS3', 'score': 17.83}, {'connected_gene': 'ENSG00000228322', 'score': 0.44}]
chr9 GH09I004334 4334017 4334959 0.86 [{'connected_gene': 'GLIS3', 'score': 7.39}, {'connected_gene': 'ENSG00000228322', 'score': 0.28}]
chr9 GH09I004366 4366732 4366922 0.67 [{'connected_gene': 'GLIS3', 'score': 6.59}, {'connected_gene': 'GC09M004386', 'score': 0.37}]
chr9 GH09I004303 4303221 4303346 0.63 [{'connected_gene': 'GLIS3', 'score': 19.74}, {'connected_gene': 'ENSG00000228322', 'score': 0.77}]
chr9 GH09I004305 4305261 4305410 0.81 [{'connected_gene': 'GLIS3', 'score': 19.6}, {'connected_gene': 'ENSG00000228322', 'score': 0.44}]
chr9 GH09I004353 4353027 4353870 0.2 [{'connected_gene': 'GLIS3', 'score': 0.44}, {'connected_gene': 'GC09M004386', 'score': 0.29}]
chr9 GH09I004324 4324601 4324790 0.49 [{'connected_gene': 'GLIS3', 'score': 11.22}, {'connected_gene': 'ENSG00000228322', 'score': 0.31}]
chr9 GH09I004338 4338941 4339801 0.92 [{'connected_gene': 'GLIS3', 'score': 5.59}, {'connected_gene': 'ENSG00000228322', 'score': 0.28}]
chr9 GH09I004344 4344809 4345671 0.31 [{'connected_gene': 'GLIS3', 'score': 6.78}, {'connected_gene': 'ENSG00000228322', 'score': 0.25}]
chr9 GH09I003957 3957068 3958302 0.2 [{'connected_gene': 'LOC105375964', 'score': 0.39}, {'connected_gene': 'GLIS3-AS1', 'score': 0.22}, {'connected_gene': 'GLIS3', 'score': 0.05}]
chr9 GH09I003948 3948430 3949736 0.31 [{'connected_gene': 'LOC105375964', 'score': 0.34}, {'connected_gene': 'GLIS3-AS1', 'score': 0.23}, {'connected_gene': 'GLIS3', 'score': 0.05}]
chr9 GH09I003969 3969021 3969170 0.58 [{'connected_gene': 'LOC105375964', 'score': 0.77}, {'connected_gene': 'GLIS3-AS1', 'score': 0.19}, {'connected_gene': 'GLIS3', 'score': 0.05}]
chr9 GH09I003954 3954155 3955972 0.89 [{'connected_gene': 'LOC105375964', 'score': 0.37}, {'connected_gene': 'GLIS3-AS1', 'score': 0.22}, {'connected_gene': 'GLIS3', 'score': 0.05}]
chr9 GH09I004224 4224064 4227200 0.76 [{'connected_gene': 'CSNK1G2P1', 'score': 5.08}, {'connected_gene': 'PIR36803', 'score': 0.37}, {'connected_gene': 'GC09M004258', 'score': 0.29}, {'connected_gene': 'GLIS3', 'score': 0.13}]
chr9 GH09I004237 4237321 4239085 0.58 [{'connected_gene': 'CSNK1G2P1', 'score': 4.46}, {'connected_gene': 'GC09M004258', 'score': 0.34}, {'connected_gene': 'PIR36803', 'score': 0.29}, {'connected_gene': 'GLIS3', 'score': 0.14}]
chr9 GH09I003873 3873951 3876619 1 [{'connected_gene': 'ENSG00000236724', 'score': 550.77}, {'connected_gene': 'GLIS3-AS1', 'score': 5.73}, {'connected_gene': 'GC09P003850', 'score': 0.34}, {'connected_gene': 'GLIS3', 'score': 0.04}]
chr9 GH09I003911 3911235 3913645 0.4 [{'connected_gene': 'ENSG00000236724', 'score': 11.58}, {'connected_gene': 'GLIS3-AS1', 'score': 0.39}, {'connected_gene': 'LOC105375964', 'score': 0.22}, {'connected_gene': 'GLIS3', 'score': 0.05}]
chr9 GH09I003936 3936472 3937330 0.2 [{'connected_gene': 'ENSG00000236724', 'score': 11.17}, {'connected_gene': 'GLIS3-AS1', 'score': 11.1}, {'connected_gene': 'LOC105375964', 'score': 0.29}, {'connected_gene': 'GLIS3', 'score': 0.05}]
chr9 GH09I003906 3906222 3907793 0.89 [{'connected_gene': 'ENSG00000236724', 'score': 11.79}, {'connected_gene': 'GLIS3-AS1', 'score': 0.44}, {'connected_gene': 'LOC105375964', 'score': 0.21}, {'connected_gene': 'GLIS3', 'score': 0.04}]
chr9 GH09I003932 3932661 3932810 0.2 [{'connected_gene': 'ENSG00000236724', 'score': 11.08}, {'connected_gene': 'GLIS3-AS1', 'score': 0.29}, {'connected_gene': 'LOC105375964', 'score': 0.28}, {'connected_gene': 'GLIS3', 'score': 0.05}]
chr9 GH09I003902 3902039 3904624 0.81 [{'connected_gene': 'ENSG00000236724', 'score': 11.81}, {'connected_gene': 'GLIS3-AS1', 'score': 6.87}, {'connected_gene': 'LOC105375964', 'score': 0.2}, {'connected_gene': 'GLIS3', 'score': 0.05}]
chr9 GH09I003877 3877182 3877575 0.42 [{'connected_gene': 'ENSG00000236724', 'score': 550.77}, {'connected_gene': 'GLIS3', 'score': 1.37}, {'connected_gene': 'GLIS3-AS1', 'score': 0.34}]
chr9 GH09I004082 4082931 4085502 0.96 [{'connected_gene': 'GC09P004084', 'score': 550.77}, {'connected_gene': 'GLIS3', 'score': 2.13}, {'connected_gene': 'GC09M004083', 'score': 0.77}, {'connected_gene': 'ENSG00000230001', 'score': 0.39}]
chr9 GH09I003848 3848563 3849490 0.74 [{'connected_gene': 'GC09M003834', 'score': 550.77}, {'connected_gene': 'GC09P003850', 'score': 550.77}, {'connected_gene': 'ENSG00000236724', 'score': 11.91}, {'connected_gene': 'GLIS3', 'score': 0.04}]
chr9 GH09I003862 3862070 3864348 1.21 [{'connected_gene': 'GC09P003850', 'score': 0.39}, {'connected_gene': 'ENSG00000236724', 'score': 0.39}, {'connected_gene': 'GLIS3', 'score': 0.04}]
chr9 GH09I004277 4277220 4278267 0.31 [{'connected_gene': 'GC09M004258', 'score': 0.37}, {'connected_gene': 'ENSG00000228322', 'score': 0.34}, {'connected_gene': 'GLIS3', 'score': 0.19}]
chr9 GH09I004235 4235292 4237127 0.86 [{'connected_gene': 'GC09M004258', 'score': 0.34}, {'connected_gene': 'PIR36803', 'score': 0.29}, {'connected_gene': 'GLIS3', 'score': 0.14}]
chr9 GH09I004125 4125648 4127529 0.77 [{'connected_gene': 'GC09P004164', 'score': 0.28}, {'connected_gene': 'GC09M004083', 'score': 0.28}, {'connected_gene': 'GLIS3', 'score': 0.07}]
chr9 GH09I004143 4143611 4146770 0.83 [{'connected_gene': 'GC09P004164', 'score': 0.37}, {'connected_gene': 'GC09M004083', 'score': 0.22}, {'connected_gene': 'GLIS3', 'score': 0.08}]
chr9 GH09I004048 4048521 4048670 0.46 [{'connected_gene': 'GC09P004031', 'score': 0.37}, {'connected_gene': 'GC09P004030', 'score': 0.37}, {'connected_gene': 'ENSG00000230001', 'score': 0.34}, {'connected_gene': 'GLIS3', 'score': 0.06}]
chr9 GH09I003864 3864643 3864683 0.4 [{'connected_gene': 'GC09P003850', 'score': 0.39}, {'connected_gene': 'ENSG00000236724', 'score': 0.39}, {'connected_gene': 'GLIS3', 'score': 0.04}]
chr9 GH09I004086 4086081 4087748 1.06 [{'connected_gene': 'GC09M004083', 'score': 550.77}, {'connected_gene': 'GC09P004084', 'score': 0.77}, {'connected_gene': 'GLIS3', 'score': 0.07}]
chr9 GH09I004069 4069082 4070365 0.59 [{'connected_gene': 'ENSG00000230001', 'score': 0.77}, {'connected_gene': 'GC09P004031', 'score': 0.28}, {'connected_gene': 'GLIS3', 'score': 0.06}]
chr9 GH09I004257 4257861 4260123 0.52 [{'connected_gene': 'GC09M004258', 'score': 550.77}, {'connected_gene': 'GLIS3', 'score': 4.65}, {'connected_gene': 'PIR36803', 'score': 0.23}]
chr9 GH09I004315 4315701 4315870 0.65 [{'connected_gene': 'ENSG00000228322', 'score': 0.37}, {'connected_gene': 'GLIS3', 'score': 0.29}]
chr9 GH09I004101 4101754 4102660 0.4 [{'connected_gene': 'GC09M004083', 'score': 0.39}, {'connected_gene': 'GC09P004164', 'score': 0.21}, {'connected_gene': 'GLIS3', 'score': 0.07}]
chr9 GH09I004092 4092510 4094707 0.86 [{'connected_gene': 'GC09M004083', 'score': 0.44}, {'connected_gene': 'GC09P004164', 'score': 0.19}, {'connected_gene': 'GLIS3', 'score': 0.07}]
chr9 GH09I004070 4070421 4070570 0.2 [{'connected_gene': 'ENSG00000230001', 'score': 550.77}, {'connected_gene': 'GC09P004031', 'score': 0.28}, {'connected_gene': 'GLIS3', 'score': 0.06}]
chr9 GH09I004261 4261494 4264450 0.82 [{'connected_gene': 'GC09M004258', 'score': 0.77}, {'connected_gene': 'ENSG00000228322', 'score': 0.28}, {'connected_gene': 'GLIS3', 'score': 0.17}]
chr9 GH09I004108 4108263 4110109 0.71 [{'connected_gene': 'GC09M004083', 'score': 0.34}, {'connected_gene': 'GC09P004164', 'score': 0.22}, {'connected_gene': 'GLIS3', 'score': 0.07}]
chr9 GH09I003826 3826797 3829113 0.57 [{'connected_gene': 'PIR41950', 'score': 0.39}, {'connected_gene': 'GC09M003834', 'score': 0.37}, {'connected_gene': 'GLIS3', 'score': 0.03}]
chr9 GH09I004162 4162852 4162875 0.22 [{'connected_gene': 'GC09P004164', 'score': 550.77}, {'connected_gene': 'GLIS3', 'score': 1.7}, {'connected_gene': 'GC09M004083', 'score': 0.19}]
chr9 GH09I004077 4077333 4077898 0.76 [{'connected_gene': 'GC09P004084', 'score': 0.44}, {'connected_gene': 'ENSG00000230001', 'score': 0.44}, {'connected_gene': 'GLIS3', 'score': 0.06}]
chr9 GH09I004167 4167161 4167310 0.49 [{'connected_gene': 'GC09P004164', 'score': 0.77}, {'connected_gene': 'PIR36803', 'score': 0.28}, {'connected_gene': 'GLIS3', 'score': 0.09}]
chr9 GH09I004096 4096570 4098610 0.71 [{'connected_gene': 'GC09M004083', 'score': 0.44}, {'connected_gene': 'GC09P004164', 'score': 0.2}, {'connected_gene': 'GLIS3', 'score': 0.07}]
chr9 GH09I004114 4114076 4116786 0.63 [{'connected_gene': 'GC09M004083', 'score': 0.31}, {'connected_gene': 'GC09P004164', 'score': 0.25}, {'connected_gene': 'GLIS3', 'score': 0.07}]
chr9 GH09I004111 4111057 4112847 0.38 [{'connected_gene': 'GC09M004083', 'score': 0.34}, {'connected_gene': 'GC09P004164', 'score': 0.23}, {'connected_gene': 'GLIS3', 'score': 0.07}]
chr9 GH09I004099 4099521 4100304 0.84 [{'connected_gene': 'GC09M004083', 'score': 0.39}, {'connected_gene': 'GC09P004164', 'score': 0.21}, {'connected_gene': 'GLIS3', 'score': 0.07}]
chr9 GH09I004038 4038321 4038550 0.69 [{'connected_gene': 'GC09P004031', 'score': 0.44}, {'connected_gene': 'GC09P004030', 'score': 0.44}, {'connected_gene': 'ENSG00000230001', 'score': 0.29}, {'connected_gene': 'GLIS3', 'score': 0.06}]
chr9 GH09I004375 4375481 4375630 0.56 [{'connected_gene': 'GC09M004386', 'score': 0.39}, {'connected_gene': 'GLIS3', 'score': 0.31}]
chr9 GH09I003865 3865342 3865690 0.64 [{'connected_gene': 'GC09P003850', 'score': 0.39}, {'connected_gene': 'ENSG00000236724', 'score': 0.39}, {'connected_gene': 'GLIS3', 'score': 0.04}]
chr9 GH09I004147 4147075 4148756 0.46 [{'connected_gene': 'GC09P004164', 'score': 0.37}, {'connected_gene': 'GC09M004083', 'score': 0.22}, {'connected_gene': 'GLIS3', 'score': 0.08}]
chr9 GH09I004136 4136012 4139628 1.37 [{'connected_gene': 'GC09P004164', 'score': 0.31}, {'connected_gene': 'GC09M004083', 'score': 0.25}, {'connected_gene': 'GLIS3', 'score': 0.08}]
chr9 GH09I004105 4105167 4107568 0.97 [{'connected_gene': 'GC09M004083', 'score': 0.37}, {'connected_gene': 'GC09P004164', 'score': 0.22}, {'connected_gene': 'GLIS3', 'score': 0.07}]
chr9 GH09I004371 4371221 4371410 0.2 [{'connected_gene': 'GC09M004386', 'score': 0.37}, {'connected_gene': 'GLIS3', 'score': 0.34}]
chr9 GH09I004117 4117137 4117663 0.51 [{'connected_gene': 'GC09M004083', 'score': 0.31}, {'connected_gene': 'GC09P004164', 'score': 0.25}, {'connected_gene': 'GLIS3', 'score': 0.07}]
chr9 GH09I003962 3962054 3964191 1.16 [{'connected_gene': 'ENSG00000236724', 'score': 10.86}, {'connected_gene': 'LOC105375964', 'score': 0.44}, {'connected_gene': 'GLIS3-AS1', 'score': 0.21}, {'connected_gene': 'GLIS3', 'score': 0.05}]
chr9 GH09I003960 3960200 3961325 0.51 [{'connected_gene': 'ENSG00000236724', 'score': 10.86}, {'connected_gene': 'LOC105375964', 'score': 0.39}, {'connected_gene': 'GLIS3-AS1', 'score': 0.21}, {'connected_gene': 'GLIS3', 'score': 0.05}]
chr9 GH09I003980 3980828 3981307 0.31 [{'connected_gene': 'ENSG00000236724', 'score': 10.93}, {'connected_gene': 'LOC105375964', 'score': 0.44}, {'connected_gene': 'GC09P004003', 'score': 0.34}, {'connected_gene': 'GLIS3', 'score': 0.05}]
chr9 GH09I004206 4206450 4208401 0.76 [{'connected_gene': 'PIR36803', 'score': 550.77}, {'connected_gene': 'CSNK1G2P1', 'score': 5.55}, {'connected_gene': 'GC09M004258', 'score': 0.23}, {'connected_gene': 'GLIS3', 'score': 0.11}]

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