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
ENST00000335251 [[128554086, 128554335], [128564675, 128565211], [128577790, 128577876], [128584535, 128584739], [128590190, 128590309], [128595278, 128595368], [128605563, 128605641], [128608832, 128609022], [128621164, 128621218], [128625382, 128625445], [128626745, 128626967], [128627641, 128628124], [128629725, 128629823], [128632067, 128632257], [128635090, 128635248], [128637479, 128647892]] [[128554189, 128554335], [128564675, 128565211], [128577790, 128577876], [128584535, 128584739], [128590190, 128590309], [128595278, 128595368], [128605563, 128605641], [128608832, 128609022], [128621164, 128621218], [128625382, 128625445], [128626745, 128626967], [128627641, 128628124], [128629725, 128629823], [128632067, 128632257], [128635090, 128635248], [128637479, 128637591]]
ENST00000503626 [[128554111, 128554335], [128564675, 128565211], [128577790, 128577876], [128584535, 128584739], [128590190, 128590309], [128595278, 128595368], [128597059, 128597220], [128604958, 128605055], [128605563, 128605641], [128606596, 128609022], [128621164, 128621218], [128625382, 128625445], [128626745, 128626967], [128627641, 128628124], [128629725, 128629823], [128632067, 128632257], [128635090, 128635248], [128637479, 128637930]] [[128554189, 128554335], [128564675, 128565211], [128577790, 128577876], [128584535, 128584739], [128590190, 128590309], [128595278, 128595368], [128597059, 128597105]]
ENST00000296461 [[128554119, 128554335], [128564675, 128565211], [128577790, 128577876], [128584535, 128584739], [128590190, 128590309], [128595278, 128595368], [128597059, 128597105]] [[128554189, 128554335], [128564675, 128565211], [128577790, 128577876], [128584535, 128584739], [128590190, 128590309], [128595278, 128595368], [128597059, 128597105]]
ENST00000503952 [[128554120, 128554335], [128564675, 128565211], [128577790, 128577876], [128584535, 128584739], [128590190, 128590309], [128595278, 128595368], [128605563, 128605641], [128606596, 128606724], [128608895, 128609022], [128621164, 128621218], [128625382, 128625445], [128626745, 128626967], [128627641, 128628124], [128629725, 128629823], [128632067, 128632257], [128635090, 128635248], [128637479, 128637634]] [[128554189, 128554335], [128564675, 128565211], [128577790, 128577876], [128584535, 128584739], [128590190, 128590309], [128595278, 128595368], [128605563, 128605641], [128606596, 128606645]]
ENST00000504491 [[128544425, 128544646], [128564675, 128565191]] [[128544557, 128544646], [128564675, 128565191]]
ENST00000504276 [[128595308, 128595368], [128605563, 128605641], [128606596, 128607105]] None
ENST00000506283 [[128608968, 128609022], [128621164, 128621218], [128626745, 128626927]] [[128608968, 128609022], [128621164, 128621218], [128626745, 128626927]]
ENST00000512995 [[128620411, 128620529], [128621164, 128621218], [128625382, 128625445], [128626745, 128626967], [128627641, 128627698]] None
ENST00000510766 [[128627958, 128628124], [128629725, 128629823], [128635090, 128635248], [128637479, 128637540]] [[128627958, 128628124], [128629725, 128629823], [128635090, 128635106]]
NM_015693 [[128554086, 128554335], [128564675, 128565211], [128577790, 128577876], [128584535, 128584739], [128590190, 128590309], [128595278, 128595368], [128605563, 128605641], [128608832, 128609022], [128621164, 128621218], [128625382, 128625445], [128626745, 128626967], [128627641, 128628124], [128629725, 128629823], [128632067, 128632257], [128635090, 128635248], [128637479, 128637934]] [[128554189, 128554335], [128564675, 128565211], [128577790, 128577876], [128584535, 128584739], [128590190, 128590309], [128595278, 128595368], [128605563, 128605641], [128608832, 128609022], [128621164, 128621218], [128625382, 128625445], [128626745, 128626967], [128627641, 128628124], [128629725, 128629823], [128632067, 128632257], [128635090, 128635248], [128637479, 128637591]]
Promoter
Chrom Start End Description
chr4 128544091 128544132 CAGE_peak_2_at_INTU_5end
chr4 128554081 128554121 CAGE_peak_1_at_INTU_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I127698 127698406 127699359 0.98 [{'connected_gene': 'SLC25A31', 'score': 11.34}, {'connected_gene': 'INTU', 'score': 10.97}, {'connected_gene': 'LOC105377413', 'score': 0.2}]
chr4 GH04I127708 127708519 127710304 0.8 [{'connected_gene': 'SLC25A31', 'score': 11.17}, {'connected_gene': 'LOC105377413', 'score': 0.18}, {'connected_gene': 'INTU', 'score': 0.17}]
chr4 GH04I128220 128220079 128221771 0.8 [{'connected_gene': 'ABHD18', 'score': 4.49}, {'connected_gene': 'INTU', 'score': 3.89}, {'connected_gene': 'FOSL1P1', 'score': 0.2}, {'connected_gene': 'PGRMC2', 'score': 0.2}, {'connected_gene': 'LARP1B', 'score': 0.1}]
chr4 GH04I128059 128059904 128063201 2.05 [{'connected_gene': 'LARP1B', 'score': 550.77}, {'connected_gene': 'GC04M128059', 'score': 550.77}, {'connected_gene': 'HSPA4L', 'score': 5.81}, {'connected_gene': 'INTU', 'score': 5.57}, {'connected_gene': 'ABHD18', 'score': 4.82}, {'connected_gene': 'RPL15P8', 'score': 0.44}]
chr4 GH04I127632 127632201 127634172 1.9 [{'connected_gene': 'INTU', 'score': 569.08}, {'connected_gene': 'LOC105377413', 'score': 550.77}, {'connected_gene': 'SLC25A31', 'score': 10.72}, {'connected_gene': 'MFSD8', 'score': 10.01}]
chr4 GH04I127532 127532683 127534562 0.86 [{'connected_gene': 'INTU', 'score': 4.01}, {'connected_gene': 'GC04P127520', 'score': 0.39}, {'connected_gene': 'LOC105377412', 'score': 0.18}]
chr4 GH04I127605 127605031 127605735 0.63 [{'connected_gene': 'INTU', 'score': 8.95}, {'connected_gene': 'LOC105377412', 'score': 0.39}, {'connected_gene': 'GC04P127520', 'score': 0.17}]
chr4 GH04I127622 127622637 127624200 1.34 [{'connected_gene': 'INTU', 'score': 566.03}, {'connected_gene': 'LOC100507487', 'score': 11.38}, {'connected_gene': 'MFSD8', 'score': 9.69}, {'connected_gene': 'LOC105377413', 'score': 0.44}]
chr4 GH04I127781 127781090 127785346 2.25 [{'connected_gene': 'HSPA4L', 'score': 559.8}, {'connected_gene': 'SLC25A31', 'score': 10.24}, {'connected_gene': 'INTU', 'score': 10.15}, {'connected_gene': 'ABHD18', 'score': 4.91}, {'connected_gene': 'ENSG00000282855', 'score': 0.31}]
chr4 GH04I128159 128159099 128164868 0.95 [{'connected_gene': 'HSPA4L', 'score': 5.37}, {'connected_gene': 'INTU', 'score': 5.04}, {'connected_gene': 'PGRMC2', 'score': 4.57}, {'connected_gene': 'FOSL1P1', 'score': 0.44}, {'connected_gene': 'LARP1B', 'score': 0.15}]
chr4 GH04I127856 127856083 127857806 0.94 [{'connected_gene': 'PLK4', 'score': 11.27}, {'connected_gene': 'RNU6-583P', 'score': 11.21}, {'connected_gene': 'INTU', 'score': 7.46}, {'connected_gene': 'ABHD18', 'score': 3.98}, {'connected_gene': 'ENSG00000261668', 'score': 0.39}]
chr4 GH04I127634 127634306 127634475 0.2 [{'connected_gene': 'LOC105377413', 'score': 550.77}, {'connected_gene': 'SLC25A31', 'score': 10.72}, {'connected_gene': 'INTU', 'score': 0.39}]
chr4 GH04I128551 128551957 128554922 1.75 [{'connected_gene': 'LOC101927259', 'score': 556.0}, {'connected_gene': 'MFSD8', 'score': 55.14}, {'connected_gene': 'PGRMC2', 'score': 20.81}, {'connected_gene': 'RPL21P53', 'score': 10.75}, {'connected_gene': 'ABHD18', 'score': 10.66}, {'connected_gene': 'INTU', 'score': 10.04}, {'connected_gene': 'JADE1', 'score': 9.87}, {'connected_gene': 'C4orf33', 'score': 4.97}, {'connected_gene': 'GC04P128333', 'score': 0.07}]