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
ENST00000588241 [[4827669, 4827999], [4828086, 4828138], [4829690, 4829787], [4835807, 4835837]] [[4829762, 4829787], [4835807, 4835837]]
ENST00000396693 [[4827669, 4827999], [4828086, 4828138], [4829690, 4829787], [4833462, 4833558], [4833649, 4833767], [4835807, 4835889], [4835980, 4836106], [4837480, 4837668], [4838280, 4838347]] [[4827797, 4827999], [4828086, 4828138], [4829690, 4829787], [4833462, 4833558], [4833649, 4833767], [4835807, 4835889], [4835980, 4836106], [4837480, 4837646]]
ENST00000268231 [[4827669, 4827999], [4828086, 4828138], [4829690, 4829787], [4833462, 4833558], [4833649, 4833767], [4833931, 4834069], [4835807, 4835889], [4835980, 4836106], [4837480, 4837668], [4838280, 4838522]] [[4827797, 4827999], [4828086, 4828138], [4829690, 4829787], [4833462, 4833558], [4833649, 4833767], [4833931, 4834069], [4835807, 4835889], [4835980, 4836106], [4837480, 4837646]]
ENST00000587603 [[4827673, 4827999], [4828086, 4828138], [4829690, 4829787], [4833317, 4833558], [4833649, 4833767], [4833931, 4834069], [4835807, 4835889], [4835980, 4836106], [4837480, 4837668], [4838280, 4838348]] [[4833351, 4833558], [4833649, 4833767], [4833931, 4834069], [4835807, 4835889], [4835980, 4836106], [4837480, 4837646]]
ENST00000590741 [[4833931, 4834069], [4835807, 4835889], [4835980, 4836106], [4837469, 4837668], [4838280, 4838353]] [[4837472, 4837646]]
ENST00000591861 [[4834239, 4834278], [4835807, 4835889], [4835980, 4836106], [4837480, 4837668], [4838280, 4838399]] None
ENST00000590303 [[4835709, 4835889], [4835980, 4836106], [4837480, 4837668], [4838280, 4838349]] None
ENST00000591624 [[4836078, 4836106], [4837480, 4837668], [4837917, 4838255]] [[4836078, 4836106], [4837480, 4837646]]
NM_144605 [[4827614, 4827999], [4828086, 4828138], [4829690, 4829787], [4833462, 4833558], [4833649, 4833767], [4833931, 4834069], [4835807, 4835889], [4835980, 4836106], [4837480, 4837668], [4838280, 4838522]] [[4827797, 4827999], [4828086, 4828138], [4829690, 4829787], [4833462, 4833558], [4833649, 4833767], [4833931, 4834069], [4835807, 4835889], [4835980, 4836106], [4837480, 4837646]]
NM_001154458 [[4827614, 4827999], [4828086, 4828138], [4829690, 4829787], [4833462, 4833558], [4833649, 4833767], [4835807, 4835889], [4835980, 4836106], [4837480, 4837668], [4838280, 4838522]] [[4827797, 4827999], [4828086, 4828138], [4829690, 4829787], [4833462, 4833558], [4833649, 4833767], [4835807, 4835889], [4835980, 4836106], [4837480, 4837646]]
Promoter
Chrom Start End Description
chr16 4837624 4837634 CAGE_peak_2_at_SEPT12_5end
chr16 4838317 4838356 CAGE_peak_1_at_SEPT12_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I004940 4940339 4941722 0.38 [{'connected_gene': 'SEC14L5', 'score': 5.56}, {'connected_gene': 'SEPT12', 'score': 5.15}, {'connected_gene': 'GC16M004952', 'score': 0.39}, {'connected_gene': 'PPL', 'score': 0.37}, {'connected_gene': 'GC16P004899', 'score': 0.26}]
chr16 GH16I004961 4961270 4964801 0.54 [{'connected_gene': 'SEC14L5', 'score': 7.53}, {'connected_gene': 'SEPT12', 'score': 4.93}, {'connected_gene': 'GC16M004962', 'score': 0.77}, {'connected_gene': 'PPL', 'score': 0.77}]
chr16 GH16I004957 4957263 4958729 2.17 [{'connected_gene': 'SEC14L5', 'score': 557.29}, {'connected_gene': 'SEPT12', 'score': 5.13}, {'connected_gene': 'PPL', 'score': 0.77}, {'connected_gene': 'GC16M004952', 'score': 0.44}]
chr16 GH16I004914 4914730 4916316 0.83 [{'connected_gene': 'GLYR1', 'score': 15.95}, {'connected_gene': 'PPL', 'score': 13.28}, {'connected_gene': 'UBN1', 'score': 11.02}, {'connected_gene': 'ZNF500', 'score': 5.92}, {'connected_gene': 'SEPT12', 'score': 5.46}, {'connected_gene': 'GC16P004899', 'score': 0.37}, {'connected_gene': 'LOC105371064', 'score': 0.34}, {'connected_gene': 'GC16M004952', 'score': 0.28}]
chr16 GH16I004916 4916743 4917711 0.82 [{'connected_gene': 'GLYR1', 'score': 15.69}, {'connected_gene': 'PPL', 'score': 13.29}, {'connected_gene': 'UBN1', 'score': 11.01}, {'connected_gene': 'SEPT12', 'score': 5.91}, {'connected_gene': 'GC16P004899', 'score': 0.37}, {'connected_gene': 'LOC105371064', 'score': 0.34}, {'connected_gene': 'GC16M004952', 'score': 0.29}]
chr16 GH16I004820 4820445 4822248 0.2 [{'connected_gene': 'GLYR1', 'score': 18.48}, {'connected_gene': 'UBN1', 'score': 12.37}, {'connected_gene': 'SEPT12', 'score': 11.86}, {'connected_gene': 'NUDT16L1', 'score': 10.95}, {'connected_gene': 'GC16M004803', 'score': 0.37}, {'connected_gene': 'ENSG00000275056', 'score': 0.37}]
chr16 GH16I004927 4927100 4929577 0.54 [{'connected_gene': 'GLYR1', 'score': 11.01}, {'connected_gene': 'UBN1', 'score': 11.01}, {'connected_gene': 'SEPT12', 'score': 8.58}, {'connected_gene': 'ENSG00000267077', 'score': 5.55}, {'connected_gene': 'GC16M004952', 'score': 0.34}, {'connected_gene': 'GC16P004899', 'score': 0.31}, {'connected_gene': 'PPL', 'score': 0.29}]
chr16 GH16I004823 4823700 4824352 0.2 [{'connected_gene': 'GLYR1', 'score': 12.4}, {'connected_gene': 'UBN1', 'score': 12.4}, {'connected_gene': 'SEPT12', 'score': 11.84}, {'connected_gene': 'GC16M004803', 'score': 0.37}, {'connected_gene': 'ENSG00000275056', 'score': 0.37}]
chr16 GH16I004800 4800021 4805682 2.21 [{'connected_gene': 'ROGDI', 'score': 573.28}, {'connected_gene': 'GC16M004803', 'score': 550.77}, {'connected_gene': 'CREBBP', 'score': 21.36}, {'connected_gene': 'SEPT12', 'score': 14.85}, {'connected_gene': 'ENSG00000267077', 'score': 14.54}, {'connected_gene': 'ZNF500', 'score': 13.64}, {'connected_gene': 'UBN1', 'score': 13.36}, {'connected_gene': 'EEF2KMT', 'score': 12.41}, {'connected_gene': 'PAM16', 'score': 5.23}, {'connected_gene': 'GLYR1', 'score': 0.26}]
chr16 GH16I004892 4892145 4893230 0.72 [{'connected_gene': 'PPL', 'score': 11.67}, {'connected_gene': 'GLYR1', 'score': 11.67}, {'connected_gene': 'UBN1', 'score': 11.67}, {'connected_gene': 'SEPT12', 'score': 9.9}, {'connected_gene': 'PIR34804', 'score': 0.77}, {'connected_gene': 'LOC105371064', 'score': 0.77}]
chr16 GH16I004934 4934949 4938245 2.11 [{'connected_gene': 'PPL', 'score': 550.34}, {'connected_gene': 'SEPT12', 'score': 6.37}, {'connected_gene': 'ENSG00000267077', 'score': 4.96}, {'connected_gene': 'GC16M004952', 'score': 0.37}, {'connected_gene': 'GC16P004899', 'score': 0.28}]
chr16 GH16I004782 4782288 4782804 0.43 [{'connected_gene': 'SMIM22', 'score': 0.44}, {'connected_gene': 'SEPT12', 'score': 0.44}, {'connected_gene': 'ZNF500', 'score': 0.39}]
chr16 GH16I004794 4794800 4796163 1.09 [{'connected_gene': 'SMIM22', 'score': 560.78}, {'connected_gene': 'ENSG00000267077', 'score': 550.77}, {'connected_gene': 'GC16P004795', 'score': 550.77}, {'connected_gene': 'SEPT12', 'score': 16.08}]
chr16 GH16I004845 4845975 4849199 2.04 [{'connected_gene': 'UBN1', 'score': 558.9}, {'connected_gene': 'GLYR1', 'score': 555.56}, {'connected_gene': 'SEPT12', 'score': 12.74}, {'connected_gene': 'ROGDI', 'score': 12.62}, {'connected_gene': 'LOC102724927', 'score': 10.6}, {'connected_gene': 'ALG1', 'score': 10.54}, {'connected_gene': 'ENSG00000267077', 'score': 6.1}, {'connected_gene': 'SMIM22', 'score': 5.8}, {'connected_gene': 'PIR33451', 'score': 0.39}]
chr16 GH16I004818 4818521 4819171 0.38 [{'connected_gene': 'ZNF500', 'score': 25.72}, {'connected_gene': 'UBN1', 'score': 21.24}, {'connected_gene': 'CREBBP', 'score': 12.87}, {'connected_gene': 'GLYR1', 'score': 11.59}, {'connected_gene': 'SEPT12', 'score': 11.41}, {'connected_gene': 'NUDT16L1', 'score': 11.1}, {'connected_gene': 'PPL', 'score': 10.63}, {'connected_gene': 'SMIM22', 'score': 8.23}, {'connected_gene': 'GC16M004803', 'score': 0.39}, {'connected_gene': 'ENSG00000275056', 'score': 0.34}]
chr16 GH16I004765 4765346 4769579 2.39 [{'connected_gene': 'ZNF500', 'score': 561.9}, {'connected_gene': 'SEPT12', 'score': 13.35}, {'connected_gene': 'ROGDI', 'score': 12.24}, {'connected_gene': 'ANKS3', 'score': 12.19}, {'connected_gene': 'C16orf71', 'score': 12.19}, {'connected_gene': 'GLYR1', 'score': 10.69}, {'connected_gene': 'UBN1', 'score': 10.69}, {'connected_gene': 'SMIM22', 'score': 8.12}, {'connected_gene': 'SEC14L5', 'score': 1.92}, {'connected_gene': 'CDIP1', 'score': 1.28}, {'connected_gene': 'ENSG00000276096', 'score': 0.39}]
chr16 GH16I004942 4942176 4946569 1.74 [{'connected_gene': 'ZNF500', 'score': 24.92}, {'connected_gene': 'ANKS3', 'score': 21.62}, {'connected_gene': 'GLYR1', 'score': 9.91}, {'connected_gene': 'SEPT12', 'score': 6.21}, {'connected_gene': 'SEC14L5', 'score': 5.52}, {'connected_gene': 'MGRN1', 'score': 4.73}, {'connected_gene': 'PPL', 'score': 1.62}, {'connected_gene': 'GC16M004952', 'score': 0.44}, {'connected_gene': 'GC16P004899', 'score': 0.25}]
chr16 GH16I004658 4658914 4666191 1.6 [{'connected_gene': 'MGRN1', 'score': 33.31}, {'connected_gene': 'NUDT16L1', 'score': 13.02}, {'connected_gene': 'PPL', 'score': 10.55}, {'connected_gene': 'SEPT12', 'score': 4.72}, {'connected_gene': 'CORO7', 'score': 1.94}, {'connected_gene': 'GLYR1', 'score': 1.61}, {'connected_gene': 'NAGPA', 'score': 1.31}, {'connected_gene': 'ENSG00000278700', 'score': 0.77}, {'connected_gene': 'MIR6769A', 'score': 0.44}]
chr16 GH16I004918 4918320 4919859 0.89 [{'connected_gene': 'SEPT12', 'score': 16.84}, {'connected_gene': 'GLYR1', 'score': 15.77}, {'connected_gene': 'PPL', 'score': 13.29}, {'connected_gene': 'UBN1', 'score': 11.43}, {'connected_gene': 'ZNF500', 'score': 5.94}, {'connected_gene': 'GC16P004899', 'score': 0.37}, {'connected_gene': 'LOC105371064', 'score': 0.34}, {'connected_gene': 'GC16M004952', 'score': 0.29}]
chr16 GH16I004824 4824377 4828217 0.52 [{'connected_gene': 'SEPT12', 'score': 24.9}, {'connected_gene': 'GLYR1', 'score': 12.4}, {'connected_gene': 'UBN1', 'score': 12.4}, {'connected_gene': 'SMIM22', 'score': 6.0}, {'connected_gene': 'ENSG00000267077', 'score': 6.0}, {'connected_gene': 'ENSG00000275056', 'score': 0.39}, {'connected_gene': 'GC16M004803', 'score': 0.34}]
chr16 GH16I004830 4830263 4830794 0.51 [{'connected_gene': 'SEPT12', 'score': 11.83}, {'connected_gene': 'ENSG00000275056', 'score': 0.44}, {'connected_gene': 'GLYR1', 'score': 0.37}, {'connected_gene': 'GC16M004803', 'score': 0.31}]
chr16 GH16I004851 4851243 4853418 0.86 [{'connected_gene': 'SEPT12', 'score': 11.23}, {'connected_gene': 'PPL', 'score': 10.99}, {'connected_gene': 'ZNF500', 'score': 10.81}, {'connected_gene': 'NUDT16L1', 'score': 10.79}, {'connected_gene': 'SMIM22', 'score': 6.95}, {'connected_gene': 'ENSG00000267077', 'score': 5.96}, {'connected_gene': 'GLYR1', 'score': 0.77}, {'connected_gene': 'UBN1', 'score': 0.44}, {'connected_gene': 'PIR33451', 'score': 0.44}]
chr16 GH16I004947 4947549 4948709 1.25 [{'connected_gene': 'SEPT12', 'score': 5.78}, {'connected_gene': 'GC16M004952', 'score': 0.77}, {'connected_gene': 'PPL', 'score': 0.39}, {'connected_gene': 'GC16P004899', 'score': 0.25}]
chr16 GH16I004948 4948820 4949767 0.43 [{'connected_gene': 'SEPT12', 'score': 6.55}, {'connected_gene': 'GC16M004952', 'score': 0.77}, {'connected_gene': 'PPL', 'score': 0.39}, {'connected_gene': 'GC16P004899', 'score': 0.23}]
chr16 GH16I004828 4828219 4829804 0.38 [{'connected_gene': 'SEPT12', 'score': 24.09}, {'connected_gene': 'SMIM22', 'score': 6.05}, {'connected_gene': 'GLYR1', 'score': 5.5}, {'connected_gene': 'ENSG00000275056', 'score': 0.39}, {'connected_gene': 'GC16M004803', 'score': 0.34}]
chr16 GH16I004788 4788268 4789352 1.19 [{'connected_gene': 'SEPT12', 'score': 569.63}, {'connected_gene': 'SMIM22', 'score': 550.77}, {'connected_gene': 'ENSG00000267077', 'score': 10.67}, {'connected_gene': 'GC16P004795', 'score': 0.44}]
chr16 GH16I004922 4922497 4924027 0.49 [{'connected_gene': 'SEPT12', 'score': 16.76}, {'connected_gene': 'CDIP1', 'score': 4.76}, {'connected_gene': 'GC16P004899', 'score': 0.34}, {'connected_gene': 'GC16M004952', 'score': 0.31}, {'connected_gene': 'LOC105371064', 'score': 0.31}, {'connected_gene': 'PPL', 'score': 0.28}]
chr16 GH16I004876 4876716 4877710 0.2 [{'connected_gene': 'SEPT12', 'score': 9.79}, {'connected_gene': 'ENSG00000267077', 'score': 5.03}, {'connected_gene': 'GC16P004880', 'score': 0.77}, {'connected_gene': 'PIR38578', 'score': 0.77}, {'connected_gene': 'PIR54430', 'score': 0.77}, {'connected_gene': 'UBN1', 'score': 0.29}]
chr16 GH16I004813 4813131 4815519 0.46 [{'connected_gene': 'SEPT12', 'score': 25.63}, {'connected_gene': 'ZNF500', 'score': 11.88}, {'connected_gene': 'GLYR1', 'score': 11.69}, {'connected_gene': 'UBN1', 'score': 11.69}, {'connected_gene': 'SMIM22', 'score': 8.69}, {'connected_gene': 'GC16M004803', 'score': 0.44}, {'connected_gene': 'ENSG00000275056', 'score': 0.31}]
chr16 GH16I004921 4921738 4922453 0.2 [{'connected_gene': 'SEPT12', 'score': 11.0}, {'connected_gene': 'ENSG00000267077', 'score': 6.35}, {'connected_gene': 'GC16P004899', 'score': 0.34}, {'connected_gene': 'GC16M004952', 'score': 0.31}, {'connected_gene': 'LOC105371064', 'score': 0.31}, {'connected_gene': 'PPL', 'score': 0.28}]
chr16 GH16I004920 4920356 4921616 0.38 [{'connected_gene': 'SEPT12', 'score': 17.32}, {'connected_gene': 'GC16P004899', 'score': 0.34}, {'connected_gene': 'LOC105371064', 'score': 0.31}, {'connected_gene': 'GC16M004952', 'score': 0.29}, {'connected_gene': 'PPL', 'score': 0.28}]
chr16 GH16I004924 4924327 4925901 1.06 [{'connected_gene': 'SEPT12', 'score': 16.96}, {'connected_gene': 'ENSG00000267077', 'score': 5.69}, {'connected_gene': 'GC16M004952', 'score': 0.31}, {'connected_gene': 'LOC105371064', 'score': 0.31}, {'connected_gene': 'GC16P004899', 'score': 0.31}, {'connected_gene': 'PPL', 'score': 0.28}]
chr16 GH16I004894 4894876 4895060 0.57 [{'connected_gene': 'LOC105371064', 'score': 550.77}, {'connected_gene': 'GLYR1', 'score': 16.09}, {'connected_gene': 'PPL', 'score': 11.67}, {'connected_gene': 'UBN1', 'score': 11.67}, {'connected_gene': 'SEPT12', 'score': 3.33}, {'connected_gene': 'C16orf71', 'score': 3.05}, {'connected_gene': 'HMOX2', 'score': 2.79}, {'connected_gene': 'SEC14L5', 'score': 2.74}, {'connected_gene': 'ROGDI', 'score': 1.99}, {'connected_gene': 'CDIP1', 'score': 1.89}, {'connected_gene': 'PIR34804', 'score': 0.44}]
chr16 GH16I004872 4872791 4875991 0.4 [{'connected_gene': 'PIR38578', 'score': 550.77}, {'connected_gene': 'UBN1', 'score': 26.3}, {'connected_gene': 'GLYR1', 'score': 11.96}, {'connected_gene': 'NUDT16L1', 'score': 11.35}, {'connected_gene': 'PPL', 'score': 11.13}, {'connected_gene': 'ZNF500', 'score': 10.82}, {'connected_gene': 'SEPT12', 'score': 9.2}, {'connected_gene': 'PIR48909', 'score': 0.77}]
chr16 GH16I004889 4889432 4890497 0.46 [{'connected_gene': 'PIR34804', 'score': 550.77}, {'connected_gene': 'UBN1', 'score': 23.97}, {'connected_gene': 'GLYR1', 'score': 11.68}, {'connected_gene': 'PPL', 'score': 11.66}, {'connected_gene': 'SEPT12', 'score': 10.72}, {'connected_gene': 'ZNF500', 'score': 7.17}, {'connected_gene': 'LOC105371064', 'score': 0.44}]
chr16 GH16I004867 4867085 4870714 0.69 [{'connected_gene': 'PIR48909', 'score': 550.77}, {'connected_gene': 'UBN1', 'score': 23.19}, {'connected_gene': 'SEPT12', 'score': 22.57}, {'connected_gene': 'ZNF500', 'score': 16.24}, {'connected_gene': 'GLYR1', 'score': 11.99}, {'connected_gene': 'NUDT16L1', 'score': 11.36}, {'connected_gene': 'PPL', 'score': 11.31}, {'connected_gene': 'SMIM22', 'score': 6.16}, {'connected_gene': 'ENSG00000267077', 'score': 5.94}, {'connected_gene': 'MGRN1', 'score': 5.46}, {'connected_gene': 'PIR31758', 'score': 0.44}, {'connected_gene': 'GC16P004860', 'score': 0.44}]
chr16 GH16I004862 4862709 4862873 0.67 [{'connected_gene': 'PIR31758', 'score': 550.77}, {'connected_gene': 'GC16P004860', 'score': 550.77}, {'connected_gene': 'UBN1', 'score': 18.34}, {'connected_gene': 'SEPT12', 'score': 11.73}, {'connected_gene': 'MGRN1', 'score': 10.82}, {'connected_gene': 'CORO7', 'score': 2.19}, {'connected_gene': 'GLYR1', 'score': 2.01}, {'connected_gene': 'PIR48909', 'score': 0.44}]
chr16 GH16I004887 4887638 4888296 0.2 [{'connected_gene': 'PIR34804', 'score': 550.77}, {'connected_gene': 'SEPT12', 'score': 11.41}, {'connected_gene': 'NMRAL1', 'score': 4.52}, {'connected_gene': 'PIR42687', 'score': 0.77}, {'connected_gene': 'PPL', 'score': 0.19}]
chr16 GH16I004881 4881898 4883029 0.82 [{'connected_gene': 'PIR34488', 'score': 550.77}, {'connected_gene': 'PIR49091', 'score': 550.77}, {'connected_gene': 'SEPT12', 'score': 11.35}, {'connected_gene': 'ENSG00000267077', 'score': 10.72}, {'connected_gene': 'UBN1', 'score': 9.92}, {'connected_gene': 'ROGDI', 'score': 6.76}, {'connected_gene': 'PIR42687', 'score': 0.77}, {'connected_gene': 'PPL', 'score': 0.18}]

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