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
ENST00000456426 [[46820248, 46821808], [46823710, 46823795], [46824454, 46824514], [46824603, 46824645], [46825865, 46827260], [46828451, 46828631], [46830624, 46830833], [46832778, 46832934], [46834661, 46834874], [46836619, 46836829], [46839579, 46839750], [46849191, 46849334], [46849785, 46849844], [46851295, 46851402], [46851831, 46852008], [46856071, 46856242], [46867765, 46867820], [46874397, 46874523], [46889449, 46889714]] [[46821728, 46821808], [46823710, 46823795], [46824454, 46824514], [46824603, 46824645], [46825865, 46827260], [46828451, 46828631], [46830624, 46830833], [46832778, 46832934], [46834661, 46834874], [46836619, 46836829], [46839579, 46839750], [46849191, 46849334], [46849785, 46849844], [46851295, 46851402], [46851831, 46852008], [46856071, 46856242], [46867765, 46867820], [46874397, 46874499]]
ENST00000283296 [[46820248, 46821808], [46823710, 46823795], [46824454, 46824514], [46824603, 46824645], [46825865, 46827260], [46828451, 46828631], [46830624, 46830833], [46832778, 46832934], [46834661, 46834874], [46836619, 46836829], [46839579, 46839750], [46845938, 46846142], [46847554, 46847776], [46849191, 46849334], [46849785, 46849844], [46851295, 46851402], [46851831, 46852008], [46856071, 46856242], [46867765, 46867820], [46874397, 46874523], [46889449, 46889714]] [[46821728, 46821808], [46823710, 46823795], [46824454, 46824514], [46824603, 46824645], [46825865, 46827260], [46828451, 46828631], [46830624, 46830833], [46832778, 46832934], [46834661, 46834874], [46836619, 46836829], [46839579, 46839750], [46845938, 46846142], [46847554, 46847776], [46849191, 46849334], [46849785, 46849844], [46851295, 46851402], [46851831, 46852008], [46856071, 46856242], [46867765, 46867820], [46874397, 46874499]]
ENST00000362015 [[46820248, 46821808], [46823710, 46823795], [46824603, 46824645], [46825865, 46827260], [46828451, 46828631], [46830624, 46830833], [46832778, 46832934], [46834661, 46834874], [46836619, 46836829], [46839579, 46839750], [46845938, 46846142], [46847554, 46847776], [46849191, 46849334], [46849785, 46849844], [46851295, 46851402], [46851831, 46852008], [46856071, 46856242], [46867765, 46867820], [46874397, 46874523], [46889449, 46889714]] [[46821728, 46821808], [46823710, 46823795], [46824603, 46824645], [46825865, 46827260], [46828451, 46828631], [46830624, 46830833], [46832778, 46832934], [46834661, 46834874], [46836619, 46836829], [46839579, 46839750], [46845938, 46846142], [46847554, 46847776], [46849191, 46849334], [46849785, 46849844], [46851295, 46851402], [46851831, 46852008], [46856071, 46856242], [46867765, 46867820], [46874397, 46874499]]
ENST00000265417 [[46820335, 46821808], [46823710, 46823795], [46824454, 46824514], [46824603, 46824645], [46825865, 46827260], [46828451, 46828631], [46830624, 46830833], [46832778, 46832934], [46834661, 46834874], [46836619, 46836829], [46839579, 46839750], [46845938, 46846142], [46847554, 46847776], [46849191, 46849334], [46849785, 46849844], [46851295, 46851402], [46851831, 46852008], [46856071, 46856242], [46867765, 46867820], [46874397, 46874523], [46922470, 46922680]] [[46821728, 46821808], [46823710, 46823795], [46824454, 46824514], [46824603, 46824645], [46825865, 46827260], [46828451, 46828631], [46830624, 46830833], [46832778, 46832934], [46834661, 46834874], [46836619, 46836829], [46839579, 46839750], [46845938, 46846142], [46847554, 46847776], [46849191, 46849334], [46849785, 46849844], [46851295, 46851402], [46851831, 46852008], [46856071, 46856242], [46867765, 46867820], [46874397, 46874499]]
ENST00000545669 [[46821470, 46821808], [46822451, 46822518], [46823710, 46823795], [46824454, 46824514], [46824603, 46824645], [46825865, 46827260], [46828451, 46828631], [46830624, 46830833], [46832778, 46832934], [46834661, 46834874], [46836619, 46836829], [46839579, 46839602]] [[46822453, 46822518], [46823710, 46823795], [46824454, 46824514], [46824603, 46824645], [46825865, 46827260], [46828451, 46828631], [46830624, 46830833], [46832778, 46832934], [46834661, 46834782]]
ENST00000498632 [[46827204, 46827260], [46828451, 46828631], [46830624, 46830833], [46830938, 46831041]] None
ENST00000478711 [[46854335, 46854782], [46855678, 46855758], [46856071, 46856153]] None
NM_001098518 [[46820241, 46821808], [46823710, 46823795], [46824454, 46824514], [46824603, 46824645], [46825865, 46827260], [46828451, 46828631], [46830624, 46830833], [46832778, 46832934], [46834661, 46834874], [46836619, 46836829], [46839579, 46839750], [46845938, 46846142], [46847554, 46847776], [46849191, 46849334], [46849785, 46849844], [46851295, 46851402], [46851831, 46852008], [46856071, 46856242], [46867765, 46867820], [46874397, 46874523], [46889449, 46889714]] [[46821728, 46821808], [46823710, 46823795], [46824454, 46824514], [46824603, 46824645], [46825865, 46827260], [46828451, 46828631], [46830624, 46830833], [46832778, 46832934], [46834661, 46834874], [46836619, 46836829], [46839579, 46839750], [46845938, 46846142], [46847554, 46847776], [46849191, 46849334], [46849785, 46849844], [46851295, 46851402], [46851831, 46852008], [46856071, 46856242], [46867765, 46867820], [46874397, 46874499]]
NM_015234 [[46820241, 46821808], [46823710, 46823795], [46824454, 46824514], [46824603, 46824645], [46825865, 46827260], [46828451, 46828631], [46830624, 46830833], [46832778, 46832934], [46834661, 46834874], [46836619, 46836829], [46839579, 46839750], [46845938, 46846142], [46847554, 46847776], [46849191, 46849334], [46849785, 46849844], [46851295, 46851402], [46851831, 46852008], [46856071, 46856242], [46867765, 46867820], [46874397, 46874523], [46922470, 46922675]] [[46821728, 46821808], [46823710, 46823795], [46824454, 46824514], [46824603, 46824645], [46825865, 46827260], [46828451, 46828631], [46830624, 46830833], [46832778, 46832934], [46834661, 46834874], [46836619, 46836829], [46839579, 46839750], [46845938, 46846142], [46847554, 46847776], [46849191, 46849334], [46849785, 46849844], [46851295, 46851402], [46851831, 46852008], [46856071, 46856242], [46867765, 46867820], [46874397, 46874499]]
Promoter
Chrom Start End Description
chr6 46847996 46847997 CAGE_peak_12_at_GPR116_5end
chr6 46889579 46889591 CAGE_peak_6_at_GPR116_5end
chr6 46889608 46889626 CAGE_peak_4_at_GPR116_5end
chr6 46889646 46889657 CAGE_peak_5_at_GPR116_5end
chr6 46889663 46889686 CAGE_peak_2_at_GPR116_5end
chr6 46889694 46889719 CAGE_peak_3_at_GPR116_5end
chr6 46922535 46922542 CAGE_peak_9_at_GPR116_5end
chr6 46922659 46922725 CAGE_peak_1_at_GPR116_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I046893 46893153 46894957 0.72 [{'connected_gene': 'SLC25A27', 'score': 18.52}, {'connected_gene': 'PLA2G7', 'score': 10.09}, {'connected_gene': 'TDRD6', 'score': 9.81}, {'connected_gene': 'LOC101926962', 'score': 0.44}, {'connected_gene': 'GC06P046865', 'score': 0.31}, {'connected_gene': 'ADGRF5', 'score': 0.21}]
chr6 GH06I046982 46982678 46984508 0.94 [{'connected_gene': 'SLC25A27', 'score': 12.02}, {'connected_gene': 'TDRD6', 'score': 11.54}, {'connected_gene': 'ADGRF5', 'score': 11.45}, {'connected_gene': 'PLA2G7', 'score': 10.74}, {'connected_gene': 'ADGRF1', 'score': 0.22}]
chr6 GH06I047034 47034370 47035961 1.3 [{'connected_gene': 'PLA2G7', 'score': 9.55}, {'connected_gene': 'ADGRF1', 'score': 5.11}, {'connected_gene': 'ADGRF5', 'score': 0.18}]
chr6 GH06I047036 47036728 47037327 0.2 [{'connected_gene': 'PLA2G7', 'score': 9.99}, {'connected_gene': 'ADGRF1', 'score': 0.44}, {'connected_gene': 'ADGRF5', 'score': 0.18}]
chr6 GH06I046807 46807721 46809360 0.43 [{'connected_gene': 'PLA2G7', 'score': 10.61}, {'connected_gene': 'TDRD6', 'score': 9.87}, {'connected_gene': 'ADGRF5', 'score': 9.47}, {'connected_gene': 'SLC25A27', 'score': 6.62}, {'connected_gene': 'MEP1A', 'score': 4.77}, {'connected_gene': 'GC06P046792', 'score': 0.37}, {'connected_gene': 'GC06P046830', 'score': 0.34}]
chr6 GH06I046946 46946448 46950401 1.13 [{'connected_gene': 'MEP1A', 'score': 9.67}, {'connected_gene': 'PLA2G7', 'score': 9.46}, {'connected_gene': 'ADGRF5', 'score': 0.44}, {'connected_gene': 'LOC105375080', 'score': 0.37}]
chr6 GH06I047074 47074871 47078364 1.18 [{'connected_gene': 'TNFRSF21', 'score': 10.59}, {'connected_gene': 'PLA2G7', 'score': 10.0}, {'connected_gene': 'ADGRF5', 'score': 9.3}, {'connected_gene': 'ADGRF1', 'score': 0.29}, {'connected_gene': 'LOC105375081', 'score': 0.21}]
chr6 GH06I047046 47046816 47048398 1.39 [{'connected_gene': 'TNFRSF21', 'score': 10.76}, {'connected_gene': 'ADGRF5', 'score': 10.54}, {'connected_gene': 'PLA2G7', 'score': 9.57}, {'connected_gene': 'ADGRF1', 'score': 0.44}, {'connected_gene': 'LOC105375081', 'score': 0.16}]
chr6 GH06I047057 47057619 47060414 0.63 [{'connected_gene': 'TNFRSF21', 'score': 11.49}, {'connected_gene': 'ADGRF5', 'score': 11.13}, {'connected_gene': 'PLA2G7', 'score': 9.84}, {'connected_gene': 'ADGRF1', 'score': 0.37}, {'connected_gene': 'LOC105375081', 'score': 0.18}]
chr6 GH06I046921 46921801 46922000 1.01 [{'connected_gene': 'ADGRF5', 'score': 561.82}, {'connected_gene': 'SLC25A27', 'score': 4.51}, {'connected_gene': 'LOC105375080', 'score': 0.44}, {'connected_gene': 'LOC101926962', 'score': 0.37}]
chr6 GH06I046908 46908264 46909391 0.2 [{'connected_gene': 'ADGRF5', 'score': 10.43}, {'connected_gene': 'SLC25A27', 'score': 4.63}, {'connected_gene': 'LOC101926962', 'score': 0.44}, {'connected_gene': 'LOC105375080', 'score': 0.34}]
chr6 GH06I046995 46995691 46998415 0.54 [{'connected_gene': 'ADGRF5', 'score': 11.29}, {'connected_gene': 'PLA2G7', 'score': 10.7}, {'connected_gene': 'TNFRSF21', 'score': 9.75}, {'connected_gene': 'TDRD6', 'score': 9.71}, {'connected_gene': 'ADGRF1', 'score': 0.25}]
chr6 GH06I046990 46989882 46991227 0.89 [{'connected_gene': 'ADGRF5', 'score': 11.3}, {'connected_gene': 'PLA2G7', 'score': 10.71}, {'connected_gene': 'ADGRF1', 'score': 0.23}]
chr6 GH06I046993 46993404 46994801 0.46 [{'connected_gene': 'ADGRF5', 'score': 11.3}, {'connected_gene': 'PLA2G7', 'score': 10.71}, {'connected_gene': 'ADGRF1', 'score': 0.25}]
chr6 GH06I046895 46895118 46896731 0.2 [{'connected_gene': 'ADGRF5', 'score': 10.69}, {'connected_gene': 'PLA2G7', 'score': 10.09}, {'connected_gene': 'LOC101926962', 'score': 0.44}, {'connected_gene': 'GC06P046865', 'score': 0.29}]
chr6 GH06I046890 46890908 46892782 0.38 [{'connected_gene': 'ADGRF5', 'score': 10.74}, {'connected_gene': 'PLA2G7', 'score': 10.09}, {'connected_gene': 'LOC101926962', 'score': 0.39}, {'connected_gene': 'GC06P046865', 'score': 0.31}]
chr6 GH06I046954 46954926 46954985 0.88 [{'connected_gene': 'ADGRF5', 'score': 550.77}, {'connected_gene': 'ADGRF1', 'score': 0.17}]
chr6 GH06I046917 46917798 46920133 0.31 [{'connected_gene': 'ADGRF5', 'score': 11.53}, {'connected_gene': 'LOC105375080', 'score': 0.39}, {'connected_gene': 'LOC101926962', 'score': 0.37}]
chr6 GH06I046953 46953874 46954448 0.2 [{'connected_gene': 'ADGRF5', 'score': 550.77}, {'connected_gene': 'LOC105375080', 'score': 0.34}]
chr6 GH06I046909 46909600 46909800 0.4 [{'connected_gene': 'ADGRF5', 'score': 10.48}, {'connected_gene': 'LOC101926962', 'score': 0.44}, {'connected_gene': 'LOC105375080', 'score': 0.34}]
chr6 GH06I046915 46915071 46917725 0.59 [{'connected_gene': 'ADGRF5', 'score': 11.53}, {'connected_gene': 'LOC101926962', 'score': 0.39}, {'connected_gene': 'LOC105375080', 'score': 0.37}]
chr6 GH06I046897 46897917 46900559 0.46 [{'connected_gene': 'ADGRF5', 'score': 10.69}, {'connected_gene': 'LOC101926962', 'score': 0.77}, {'connected_gene': 'GC06P046865', 'score': 0.29}]
chr6 GH06I046932 46932314 46934340 0.71 [{'connected_gene': 'LOC105375080', 'score': 550.77}, {'connected_gene': 'ADGRF5', 'score': 12.27}, {'connected_gene': 'LOC101926962', 'score': 11.38}, {'connected_gene': 'SLC25A27', 'score': 5.73}, {'connected_gene': 'TDRD6', 'score': 5.31}]
chr6 GH06I046963 46963851 46965513 0.63 [{'connected_gene': 'LOC101926962', 'score': 9.83}, {'connected_gene': 'PLA2G7', 'score': 9.66}, {'connected_gene': 'ADGRF5', 'score': 0.44}, {'connected_gene': 'ADGRF1', 'score': 0.18}]
chr6 GH06I046942 46941448 46942474 0.31 [{'connected_gene': 'LOC101926962', 'score': 10.43}, {'connected_gene': 'PLA2G7', 'score': 9.29}, {'connected_gene': 'ADGRF5', 'score': 4.58}, {'connected_gene': 'LOC105375080', 'score': 0.39}]
chr6 GH06I046940 46940222 46940840 0.38 [{'connected_gene': 'LOC101926962', 'score': 10.43}, {'connected_gene': 'PLA2G7', 'score': 9.29}, {'connected_gene': 'ADGRF5', 'score': 4.54}, {'connected_gene': 'LOC105375080', 'score': 0.44}]
chr6 GH06I046938 46938994 46939495 0.2 [{'connected_gene': 'LOC101926962', 'score': 11.08}, {'connected_gene': 'PLA2G7', 'score': 9.62}, {'connected_gene': 'LOC105375080', 'score': 0.44}, {'connected_gene': 'ADGRF5', 'score': 0.37}]
chr6 GH06I046941 46940846 46941389 0.38 [{'connected_gene': 'LOC101926962', 'score': 10.43}, {'connected_gene': 'PLA2G7', 'score': 9.29}, {'connected_gene': 'LOC105375080', 'score': 0.44}, {'connected_gene': 'ADGRF5', 'score': 0.39}]
chr6 GH06I046900 46900863 46904465 0.54 [{'connected_gene': 'LOC101926962', 'score': 550.77}, {'connected_gene': 'ADGRF5', 'score': 10.7}, {'connected_gene': 'MEP1A', 'score': 9.73}, {'connected_gene': 'SLC25A27', 'score': 6.22}, {'connected_gene': 'GC06P046865', 'score': 0.28}]
chr6 GH06I046904 46904649 46905243 0.2 [{'connected_gene': 'LOC101926962', 'score': 550.77}, {'connected_gene': 'ADGRF5', 'score': 10.56}, {'connected_gene': 'MEP1A', 'score': 9.8}, {'connected_gene': 'LOC105375080', 'score': 0.31}]
chr6 GH06I046989 46989604 46989773 0.49 [{'connected_gene': 'LOC101926962', 'score': 10.85}, {'connected_gene': 'ADGRF5', 'score': 0.29}, {'connected_gene': 'ADGRF1', 'score': 0.23}]
chr6 GH06I046925 46925217 46927840 1 [{'connected_gene': 'LOC101926962', 'score': 11.87}, {'connected_gene': 'ADGRF5', 'score': 11.83}, {'connected_gene': 'LOC105375080', 'score': 0.44}]
chr6 GH06I046875 46875670 46876873 0.72 [{'connected_gene': 'LOC101926962', 'score': 11.44}, {'connected_gene': 'ADGRF5', 'score': 10.81}, {'connected_gene': 'GC06P046865', 'score': 0.39}]
chr6 GH06I046914 46914544 46914693 0.57 [{'connected_gene': 'LOC101926962', 'score': 0.39}, {'connected_gene': 'LOC105375080', 'score': 0.37}, {'connected_gene': 'ADGRF5', 'score': 0.26}]
chr6 GH06I046912 46912797 46913414 0.31 [{'connected_gene': 'LOC101926962', 'score': 0.44}, {'connected_gene': 'LOC105375080', 'score': 0.37}, {'connected_gene': 'ADGRF5', 'score': 0.26}]
chr6 GH06I046935 46935244 46937077 0.96 [{'connected_gene': 'LOC101926962', 'score': 11.37}, {'connected_gene': 'LOC105375080', 'score': 0.77}, {'connected_gene': 'ADGRF5', 'score': 0.37}]
chr6 GH06I046857 46857408 46857526 0.22 [{'connected_gene': 'GC06M046858', 'score': 550.77}, {'connected_gene': 'GC06M046859', 'score': 550.77}, {'connected_gene': 'ADGRF5', 'score': 10.96}, {'connected_gene': 'PLA2G7', 'score': 9.97}, {'connected_gene': 'GC06P046830', 'score': 0.31}]

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