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
ENST00000478423 [[5922870, 5923465], [5923949, 5924093], [5924397, 5924577], [5925161, 5925333], [5926432, 5926518], [5927089, 5927175], [5927799, 5927956], [5933311, 5933395], [5934530, 5934717], [5934933, 5935160], [5937152, 5937358], [5940173, 5940299], [5947345, 5947526], [5950927, 5951088], [5964676, 5964864], [5965351, 5965543], [5965691, 5965843], [5987708, 5987847], [5993206, 5993389], [6007163, 6007290], [6008129, 6008311], [6012759, 6012896], [6021853, 6022009], [6027358, 6027423], [6029146, 6029319], [6052303, 6052484]] None
ENST00000489180 [[5922872, 5923465], [5923949, 5924093], [5924397, 5924577], [5925161, 5925333], [5926432, 5926518], [5927089, 5927175], [5927799, 5927956], [5933311, 5933395], [5934530, 5934717], [5934933, 5935160], [5936013, 5936138], [5936445, 5936583], [5937152, 5937358], [5939405, 5939692], [5940173, 5940299], [5947345, 5947526], [5950927, 5951088], [5964676, 5964864], [5965351, 5965543], [5965691, 5965840], [5967174, 5967282], [5969211, 5969273], [5987708, 5987847], [5993206, 5993389], [6007163, 6007290], [6008129, 6008311], [6012759, 6012896], [6021853, 6022009], [6027358, 6027423], [6029146, 6029319], [6038329, 6038473], [6046214, 6046387], [6052303, 6052533]] [[5939564, 5939692], [5940173, 5940299], [5947345, 5947526], [5950927, 5951088], [5964676, 5964864], [5965351, 5965543], [5965691, 5965840], [5967174, 5967282], [5969211, 5969273], [5987708, 5987847], [5993206, 5993389], [6007163, 6007290], [6008129, 6008311], [6012759, 6012896], [6021853, 6022009], [6027358, 6027423], [6029146, 6029319], [6038329, 6038473], [6046214, 6046349]]
ENST00000378156 [[5922877, 5923465], [5923949, 5924093], [5924397, 5924577], [5925161, 5925333], [5926432, 5926518], [5927089, 5927175], [5927799, 5927956], [5933311, 5933395], [5934530, 5934717], [5934933, 5935160], [5937152, 5937358], [5940173, 5940299], [5947345, 5947526], [5950927, 5951088], [5964676, 5964864], [5965351, 5965543], [5965691, 5965843], [5967174, 5967282], [5969211, 5969273], [5987708, 5987847], [5993206, 5993389], [6007163, 6007290], [6008129, 6008311], [6012759, 6012896], [6021853, 6022009], [6027358, 6027423], [6029146, 6029319], [6038329, 6038473], [6046214, 6046387], [6052303, 6052531]] [[5923324, 5923465], [5923949, 5924093], [5924397, 5924577], [5925161, 5925333], [5926432, 5926518], [5927089, 5927175], [5927799, 5927956], [5933311, 5933395], [5934530, 5934717], [5934933, 5935160], [5937152, 5937358], [5940173, 5940299], [5947345, 5947526], [5950927, 5951088], [5964676, 5964864], [5965351, 5965543], [5965691, 5965843], [5967174, 5967282], [5969211, 5969273], [5987708, 5987847], [5993206, 5993389], [6007163, 6007290], [6008129, 6008311], [6012759, 6012896], [6021853, 6022009], [6027358, 6027423], [6029146, 6029319], [6038329, 6038473], [6046214, 6046349]]
ENST00000378169 [[5923324, 5923465], [5923949, 5924093], [5924397, 5924577], [5925161, 5925333], [5926432, 5926518], [5927089, 5927175], [5927799, 5927956], [5933311, 5933395], [5934530, 5934717], [5934933, 5935160], [5937152, 5937358], [5940173, 5940299], [5947345, 5947526], [5950927, 5951088], [5964676, 5964864], [5965351, 5965543], [5965691, 5965840], [5987708, 5987847], [5993206, 5993389], [6007163, 6007290], [6008129, 6008311], [6021853, 6022009], [6027358, 6027423], [6029146, 6029319], [6038329, 6038473], [6046214, 6046387], [6052303, 6052507]] [[6008195, 6008311], [6021853, 6022009], [6027358, 6027423], [6029146, 6029319], [6038329, 6038473], [6046214, 6046349]]
ENST00000460696 [[5922870, 5924093], [5924397, 5926518], [5927089, 5927712]] None
ENST00000378161 [[5922870, 5926518], [5927089, 5927175], [5927799, 5928435]] None
ENST00000468253 [[5927141, 5927175], [5927799, 5927956], [5933311, 5933901]] None
ENST00000506941 [[5934964, 5935160], [5937152, 5937526]] None
ENST00000470763 [[5936938, 5937358], [5940173, 5942909]] None
ENST00000466897 [[5946554, 5947032], [5947345, 5947526], [5948519, 5948670], [5950927, 5951088], [5964676, 5964864], [5965351, 5965384]] [[5948637, 5948670], [5950927, 5951088], [5964676, 5964864], [5965351, 5965384]]
NM_015102 [[5922867, 5923465], [5923949, 5924093], [5924397, 5924577], [5925161, 5925333], [5926432, 5926518], [5927089, 5927175], [5927799, 5927956], [5933311, 5933395], [5934530, 5934717], [5934933, 5935160], [5937152, 5937358], [5940173, 5940299], [5947345, 5947526], [5950927, 5951088], [5964676, 5964864], [5965351, 5965543], [5965691, 5965843], [5967174, 5967282], [5969211, 5969273], [5987708, 5987847], [5993206, 5993389], [6007163, 6007290], [6008129, 6008311], [6012759, 6012896], [6021853, 6022009], [6027358, 6027423], [6029146, 6029319], [6038329, 6038473], [6046214, 6046387], [6052303, 6052533]] [[5923324, 5923465], [5923949, 5924093], [5924397, 5924577], [5925161, 5925333], [5926432, 5926518], [5927089, 5927175], [5927799, 5927956], [5933311, 5933395], [5934530, 5934717], [5934933, 5935160], [5937152, 5937358], [5940173, 5940299], [5947345, 5947526], [5950927, 5951088], [5964676, 5964864], [5965351, 5965543], [5965691, 5965843], [5967174, 5967282], [5969211, 5969273], [5987708, 5987847], [5993206, 5993389], [6007163, 6007290], [6008129, 6008311], [6012759, 6012896], [6021853, 6022009], [6027358, 6027423], [6029146, 6029319], [6038329, 6038473], [6046214, 6046349]]
NR_111987 [[5922867, 5923465], [5923949, 5924093], [5924397, 5924577], [5925161, 5925333], [5926432, 5926518], [5927089, 5927175], [5927799, 5927956], [5933311, 5933395], [5934530, 5934717], [5934933, 5935160], [5936013, 5936138], [5936445, 5936583], [5937152, 5937358], [5939405, 5939692], [5940173, 5940299], [5947345, 5947526], [5950927, 5951088], [5964676, 5964864], [5965351, 5965543], [5965691, 5965840], [5967174, 5967282], [5969211, 5969273], [5987708, 5987847], [5993206, 5993389], [6007163, 6007290], [6008129, 6008311], [6012759, 6012896], [6021853, 6022009], [6027358, 6027423], [6029146, 6029319], [6038329, 6038473], [6046214, 6046387], [6052303, 6052533]] None
NM_001291593 [[5922867, 5923465], [5923949, 5924093], [5924397, 5924577], [5925161, 5925333], [5926432, 5926518], [5927089, 5927175], [5927799, 5927956], [5933311, 5933395], [5934530, 5934717], [5934933, 5935160], [5937152, 5937358], [5940173, 5940299], [5947345, 5947526], [5950927, 5951088], [5964676, 5964864], [5965351, 5965543], [5965691, 5965840], [5987708, 5987847], [5993206, 5993389], [6007163, 6007290], [6008129, 6008311], [6021853, 6022009], [6027358, 6027423], [6029146, 6029319], [6038329, 6038473], [6046214, 6046387], [6052303, 6052533]] [[5923324, 5923465], [5923949, 5924093], [5924397, 5924577], [5925161, 5925333], [5926432, 5926518], [5927089, 5927175], [5927799, 5927956], [5933311, 5933395], [5934530, 5934717], [5934933, 5935160], [5937152, 5937358], [5940173, 5940299], [5947345, 5947526], [5950927, 5951088], [5964676, 5964864], [5965351, 5965543], [5965691, 5965840], [5987708, 5987783]]
NM_001291594 [[5922867, 5923465], [5923949, 5924093], [5924397, 5924577], [5925161, 5925333], [5926432, 5926518], [5927089, 5927175], [5927799, 5927956], [5933311, 5933395], [5934530, 5934717], [5934933, 5935160], [5937152, 5937358], [5940173, 5940299], [5947345, 5947526], [5950927, 5951088], [5964676, 5964864], [5965351, 5965543], [5965691, 5965843], [5987708, 5987847], [5993206, 5993389], [6007163, 6007290], [6008129, 6008311], [6012759, 6012896], [6021853, 6022009], [6027358, 6027423], [6029146, 6029319], [6052303, 6052533]] [[5923324, 5923465], [5923949, 5924093], [5924397, 5924577], [5925161, 5925333], [5926432, 5926518], [5927089, 5927175], [5927799, 5927956], [5933311, 5933395], [5934530, 5934717], [5934933, 5935160], [5937152, 5937358], [5940173, 5940299], [5947345, 5947526], [5950927, 5951088], [5964676, 5964864], [5965351, 5965543], [5965691, 5965843], [5987708, 5987783]]
Promoter
Chrom Start End Description
chr1 6052463 6052542 CAGE_peak_1_at_NPHP4_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I006404 6404761 6404910 0.98 [{'connected_gene': 'THAP3', 'score': 131.34}, {'connected_gene': 'NOL9', 'score': 113.68}, {'connected_gene': 'RPL22', 'score': 38.11}, {'connected_gene': 'CAMTA1-DT', 'score': 29.32}, {'connected_gene': 'LOC102724450', 'score': 22.73}, {'connected_gene': 'PHF13', 'score': 21.95}, {'connected_gene': 'ZBTB48', 'score': 21.48}, {'connected_gene': 'CAMTA1', 'score': 19.37}, {'connected_gene': 'NPHP4', 'score': 19.31}, {'connected_gene': 'GC01M006398', 'score': 0.44}, {'connected_gene': 'HES2', 'score': 0.37}]
chr1 GH01I006024 6024700 6030017 2.46 [{'connected_gene': 'KCNAB2', 'score': 565.66}, {'connected_gene': 'NPHP4', 'score': 5.55}, {'connected_gene': 'TNFRSF25', 'score': 3.11}, {'connected_gene': 'GC01M006038', 'score': 0.39}]
chr1 GH01I006034 6034201 6034852 0.92 [{'connected_gene': 'KCNAB2', 'score': 8.14}, {'connected_gene': 'GC01M006038', 'score': 0.44}, {'connected_gene': 'NPHP4', 'score': 0.26}]
chr1 GH01I006058 6058503 6059710 0.96 [{'connected_gene': 'CHD5', 'score': 11.37}, {'connected_gene': 'RNF207', 'score': 10.21}, {'connected_gene': 'LOC102724450', 'score': 10.21}, {'connected_gene': 'RPL22', 'score': 10.21}, {'connected_gene': 'NPHP4', 'score': 4.65}, {'connected_gene': 'GC01M006038', 'score': 0.37}, {'connected_gene': 'KCNAB2', 'score': 0.2}, {'connected_gene': 'LOC105376687', 'score': 0.19}]
chr1 GH01I006293 6293628 6295795 0.99 [{'connected_gene': 'ESPN', 'score': 17.97}, {'connected_gene': 'THAP3', 'score': 14.88}, {'connected_gene': 'NOL9', 'score': 12.33}, {'connected_gene': 'LINC00337', 'score': 11.71}, {'connected_gene': 'ICMT', 'score': 11.71}, {'connected_gene': 'NPHP4', 'score': 9.9}, {'connected_gene': 'ZBTB48', 'score': 3.67}, {'connected_gene': 'GPR153', 'score': 2.23}, {'connected_gene': 'ACOT7', 'score': 1.52}, {'connected_gene': 'GC01P006262', 'score': 0.29}, {'connected_gene': 'ENSG00000271746', 'score': 0.15}]
chr1 GH01I006299 6299190 6303682 1.07 [{'connected_gene': 'ESPN', 'score': 18.97}, {'connected_gene': 'ACOT7', 'score': 5.85}, {'connected_gene': 'ZBTB48', 'score': 3.34}, {'connected_gene': 'PLEKHG5', 'score': 2.75}, {'connected_gene': 'GPR153', 'score': 2.15}, {'connected_gene': 'HES2', 'score': 2.06}, {'connected_gene': 'THAP3', 'score': 1.97}, {'connected_gene': 'NPHP4', 'score': 1.56}, {'connected_gene': 'GC01P006262', 'score': 0.26}, {'connected_gene': 'ENSG00000271746', 'score': 0.16}]
chr1 GH01I006008 6008965 6010473 0.86 [{'connected_gene': 'RNF207', 'score': 9.81}, {'connected_gene': 'LOC102724450', 'score': 9.81}, {'connected_gene': 'RPL22', 'score': 9.81}, {'connected_gene': 'KCNAB2', 'score': 8.98}, {'connected_gene': 'NPHP4', 'score': 0.37}, {'connected_gene': 'GC01M006038', 'score': 0.31}]
chr1 GH01I006007 6007201 6007400 0.97 [{'connected_gene': 'RNF207', 'score': 9.81}, {'connected_gene': 'LOC102724450', 'score': 9.81}, {'connected_gene': 'RPL22', 'score': 9.81}, {'connected_gene': 'NPHP4', 'score': 0.39}, {'connected_gene': 'KCNAB2', 'score': 0.37}, {'connected_gene': 'GC01M006038', 'score': 0.29}]
chr1 GH01I005917 5917661 5917810 0.94 [{'connected_gene': 'ZBTB48', 'score': 11.14}, {'connected_gene': 'PHF13', 'score': 9.96}, {'connected_gene': 'NPHP4', 'score': 7.8}, {'connected_gene': 'GC01M005892', 'score': 0.37}, {'connected_gene': 'KCNAB2', 'score': 0.19}]
chr1 GH01I005990 5990873 5995461 2.57 [{'connected_gene': 'NPHP4', 'score': 569.4}, {'connected_gene': 'KCNAB2', 'score': 557.84}, {'connected_gene': 'THAP3', 'score': 28.97}, {'connected_gene': 'TNFRSF25', 'score': 21.26}, {'connected_gene': 'PHF13', 'score': 21.1}, {'connected_gene': 'RPL22', 'score': 20.75}, {'connected_gene': 'ZBTB48', 'score': 19.93}, {'connected_gene': 'NOL9', 'score': 10.05}, {'connected_gene': 'CHD5', 'score': 3.38}, {'connected_gene': 'GC01M006038', 'score': 0.25}]
chr1 GH01I005918 5916563 5916710 0.31 [{'connected_gene': 'NPHP4', 'score': 7.8}, {'connected_gene': 'GC01M005892', 'score': 0.37}, {'connected_gene': 'KCNAB2', 'score': 0.19}]
chr1 GH01I005970 5970961 5971070 0.2 [{'connected_gene': 'NPHP4', 'score': 0.34}, {'connected_gene': 'KCNAB2', 'score': 0.34}, {'connected_gene': 'GC01M005892', 'score': 0.2}]
chr1 GH01I005975 5975401 5976200 0.84 [{'connected_gene': 'NPHP4', 'score': 15.24}, {'connected_gene': 'KCNAB2', 'score': 0.37}, {'connected_gene': 'GC01M005892', 'score': 0.19}]
chr1 GH01I005988 5988618 5990155 0.38 [{'connected_gene': 'NPHP4', 'score': 21.24}, {'connected_gene': 'KCNAB2', 'score': 0.77}, {'connected_gene': 'GC01M005892', 'score': 0.17}]
chr1 GH01I006015 6015969 6017285 0.38 [{'connected_gene': 'NPHP4', 'score': 0.34}, {'connected_gene': 'GC01M006038', 'score': 0.34}, {'connected_gene': 'KCNAB2', 'score': 0.31}]
chr1 GH01I005984 5983421 5983610 0.59 [{'connected_gene': 'NPHP4', 'score': 0.44}, {'connected_gene': 'KCNAB2', 'score': 0.44}, {'connected_gene': 'GC01M005892', 'score': 0.18}]
chr1 GH01I005983 5983084 5983130 0.54 [{'connected_gene': 'NPHP4', 'score': 0.44}, {'connected_gene': 'KCNAB2', 'score': 0.44}, {'connected_gene': 'GC01M005892', 'score': 0.18}]
chr1 GH01I005980 5980109 5981325 1.24 [{'connected_gene': 'NPHP4', 'score': 11.99}, {'connected_gene': 'KCNAB2', 'score': 0.39}, {'connected_gene': 'GC01M005892', 'score': 0.18}]
chr1 GH01I005938 5938099 5938996 0.2 [{'connected_gene': 'NPHP4', 'score': 14.63}, {'connected_gene': 'GC01M005892', 'score': 0.28}, {'connected_gene': 'KCNAB2', 'score': 0.23}]
chr1 GH01I006014 6014519 6015062 0.4 [{'connected_gene': 'NPHP4', 'score': 0.34}, {'connected_gene': 'GC01M006038', 'score': 0.34}, {'connected_gene': 'KCNAB2', 'score': 0.34}]
chr1 GH01I006011 6011440 6013158 0.67 [{'connected_gene': 'NPHP4', 'score': 0.37}, {'connected_gene': 'KCNAB2', 'score': 0.34}, {'connected_gene': 'GC01M006038', 'score': 0.31}]
chr1 GH01I005966 5966872 5967983 0.46 [{'connected_gene': 'NPHP4', 'score': 15.19}, {'connected_gene': 'KCNAB2', 'score': 0.34}, {'connected_gene': 'GC01M005892', 'score': 0.2}]
chr1 GH01I005977 5977843 5979667 0.31 [{'connected_gene': 'NPHP4', 'score': 21.39}, {'connected_gene': 'KCNAB2', 'score': 0.39}, {'connected_gene': 'GC01M005892', 'score': 0.18}]
chr1 GH01I005896 5896501 5898012 0.66 [{'connected_gene': 'NPHP4', 'score': 13.2}, {'connected_gene': 'CHD5', 'score': 2.09}, {'connected_gene': 'KCNAB2', 'score': 1.9}, {'connected_gene': 'GC01M005892', 'score': 0.77}, {'connected_gene': 'MIR4689', 'score': 0.29}]
chr1 GH01I005916 5916101 5916250 0.69 [{'connected_gene': 'GC01M005892', 'score': 0.37}, {'connected_gene': 'NPHP4', 'score': 0.18}, {'connected_gene': 'KCNAB2', 'score': 0.18}]
chr1 GH01I006037 6037010 6037740 0.82 [{'connected_gene': 'GC01M006038', 'score': 0.77}, {'connected_gene': 'NPHP4', 'score': 0.26}, {'connected_gene': 'KCNAB2', 'score': 0.25}]
chr1 GH01I005915 5915861 5916010 0.67 [{'connected_gene': 'GC01M005892', 'score': 0.39}, {'connected_gene': 'NPHP4', 'score': 0.18}, {'connected_gene': 'KCNAB2', 'score': 0.18}]

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