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
ENST00000438448 [[104864961, 104865074], [104865915, 104865980], [104866466, 104866569], [104868109, 104868219], [104869611, 104869755]] [[104866470, 104866569], [104868109, 104868219], [104869611, 104869755]]
ENST00000418434 [[104864966, 104865074], [104866466, 104866569], [104868109, 104868219], [104869611, 104869755], [104870987, 104871222], [104872754, 104872928], [104874000, 104874110], [104893856, 104893895]] [[104866470, 104866569], [104868109, 104868219], [104869611, 104869755], [104870987, 104871222], [104872754, 104872928], [104874000, 104874110], [104893856, 104893863]]
ENST00000393139 [[104864966, 104865074], [104866466, 104866569], [104868109, 104868219], [104869611, 104869755], [104870987, 104871222], [104872754, 104872928], [104877809, 104878061], [104879533, 104879746], [104893856, 104893895]] [[104872860, 104872928], [104877809, 104878061], [104879533, 104879615]]
ENST00000393141 [[104864966, 104865074], [104866466, 104866569], [104868109, 104868219], [104869611, 104869755], [104870987, 104871222], [104872754, 104872928], [104874000, 104874110], [104877809, 104878061], [104879533, 104879746], [104893856, 104893895]] [[104866470, 104866569], [104868109, 104868219], [104869611, 104869755], [104870987, 104871222], [104872754, 104872928], [104874000, 104874110], [104877809, 104878061], [104879533, 104879746], [104893856, 104893863]]
ENST00000260315 [[104864969, 104865074], [104866466, 104866569], [104868109, 104868219], [104869611, 104869755], [104870987, 104871222], [104872754, 104872928], [104874000, 104874110], [104877809, 104878061], [104879533, 104879707], [104893856, 104893863]] [[104866470, 104866569], [104868109, 104868219], [104869611, 104869755], [104870987, 104871222], [104872754, 104872928], [104874000, 104874110], [104877809, 104878061], [104879533, 104879707], [104893856, 104893863]]
ENST00000444749 [[104865003, 104865074], [104866466, 104866569], [104868109, 104868219], [104869611, 104869755], [104870987, 104871222], [104872754, 104872928], [104874000, 104874110], [104877809, 104878061], [104893856, 104893894]] [[104866470, 104866569], [104868109, 104868219], [104869611, 104869755], [104870987, 104871222], [104872754, 104872928], [104874000, 104874110], [104877809, 104878061], [104893856, 104893863]]
ENST00000526056 [[104866470, 104866569], [104868109, 104868219], [104869611, 104869755], [104870987, 104871222], [104872754, 104872928], [104874000, 104874110], [104877809, 104878061], [104879533, 104879746], [104893856, 104893863]] [[104866470, 104866569], [104868109, 104868219], [104869611, 104869755], [104870987, 104871222], [104872754, 104872928], [104874000, 104874110], [104877809, 104878061], [104879533, 104879746], [104893856, 104893863]]
ENST00000531367 [[104866470, 104866569], [104868109, 104868219], [104869611, 104869755], [104870987, 104871222], [104872754, 104872928], [104874000, 104874110], [104893856, 104893863]] [[104866470, 104866569], [104868109, 104868219], [104869611, 104869755], [104870987, 104871222], [104872754, 104872928], [104874000, 104874110], [104893856, 104893863]]
ENST00000456200 [[104866512, 104866569], [104868109, 104868219], [104869611, 104869755], [104870987, 104871222], [104872754, 104872928], [104877809, 104878061], [104893856, 104893863]] [[104872860, 104872928], [104877809, 104878061], [104893856, 104893863]]
ENST00000456094 [[104874000, 104874110], [104877809, 104878061], [104879533, 104879780], [104893856, 104893870]] [[104874000, 104874110], [104877809, 104878061], [104879533, 104879666]]
NM_001136112 [[104864966, 104865074], [104866466, 104866569], [104868109, 104868219], [104869611, 104869755], [104870987, 104871222], [104872754, 104872928], [104874000, 104874110], [104877809, 104878061], [104879533, 104879746], [104893856, 104893895]] [[104866470, 104866569], [104868109, 104868219], [104869611, 104869755], [104870987, 104871222], [104872754, 104872928], [104874000, 104874110], [104877809, 104878061], [104879533, 104879746], [104893856, 104893863]]
NM_004347 [[104864966, 104865074], [104866466, 104866569], [104868109, 104868219], [104869611, 104869755], [104870987, 104871222], [104872754, 104872928], [104874000, 104874110], [104877809, 104878061], [104879533, 104879707], [104893856, 104893895]] [[104866470, 104866569], [104868109, 104868219], [104869611, 104869755], [104870987, 104871222], [104872754, 104872928], [104874000, 104874110], [104877809, 104878061], [104879533, 104879707], [104893856, 104893863]]
NM_001136109 [[104864966, 104865074], [104866466, 104866569], [104868109, 104868219], [104869611, 104869755], [104870987, 104871222], [104872754, 104872928], [104874000, 104874110], [104877809, 104878061], [104893856, 104893895]] [[104866470, 104866569], [104868109, 104868219], [104869611, 104869755], [104870987, 104871222], [104872754, 104872928], [104874000, 104874110], [104877809, 104878061], [104893856, 104893863]]
NR_024239 [[104864966, 104865074], [104866466, 104866569], [104868109, 104868219], [104869611, 104869755], [104870987, 104871222], [104872754, 104872928], [104877809, 104878061], [104893856, 104893895]] None
NM_001136110 [[104864966, 104865074], [104866466, 104866569], [104868109, 104868219], [104869611, 104869755], [104870987, 104871222], [104872754, 104872928], [104874000, 104874110], [104893856, 104893895]] [[104866470, 104866569], [104868109, 104868219], [104869611, 104869755], [104870987, 104871222], [104872754, 104872928], [104874000, 104874110], [104893856, 104893863]]
NR_036562 [[104864966, 104865074], [104866466, 104866569], [104868109, 104868219], [104869611, 104869755], [104870987, 104871222], [104872754, 104872928], [104893856, 104893895]] None
Promoter
Chrom Start End Description
chr11 104893886 104893907 CAGE_peak_1_at_CASP5_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I105000 105000914 105001083 0.56 [{'connected_gene': 'CASP5', 'score': 12.32}, {'connected_gene': 'CASP1', 'score': 12.25}, {'connected_gene': 'ENSG00000284715', 'score': 0.34}]
chr11 GH11I105022 105022372 105024562 1.28 [{'connected_gene': 'CASP5', 'score': 550.77}, {'connected_gene': 'CARD16', 'score': 4.75}, {'connected_gene': 'CASP1', 'score': 0.39}]
chr11 GH11I104836 104836601 104837197 0.42 [{'connected_gene': 'CASP4', 'score': 15.09}, {'connected_gene': 'CASP5', 'score': 7.34}, {'connected_gene': 'CARD17', 'score': 7.17}, {'connected_gene': 'LOC643733', 'score': 4.58}, {'connected_gene': 'CARD16', 'score': 4.22}, {'connected_gene': 'PIR51559', 'score': 0.34}, {'connected_gene': 'ENSG00000254569', 'score': 0.28}]
chr11 GH11I104875 104875592 104877797 0.89 [{'connected_gene': 'CASP4', 'score': 11.17}, {'connected_gene': 'LOC643733', 'score': 7.16}, {'connected_gene': 'CASP5', 'score': 4.66}, {'connected_gene': 'CARD17', 'score': 2.9}, {'connected_gene': 'CARD16', 'score': 2.56}, {'connected_gene': 'ENSG00000254569', 'score': 0.77}, {'connected_gene': 'CASP12', 'score': 0.34}]
chr11 GH11I104965 104965298 104970176 2.08 [{'connected_gene': 'CASP4', 'score': 575.62}, {'connected_gene': 'LOC643733', 'score': 16.48}, {'connected_gene': 'CASP5', 'score': 11.81}, {'connected_gene': 'CASP12', 'score': 11.38}, {'connected_gene': 'CARD17', 'score': 8.49}, {'connected_gene': 'CARD16', 'score': 7.28}]
chr11 GH11I104704 104704275 104707886 1.13 [{'connected_gene': 'CASP4', 'score': 12.41}, {'connected_gene': 'CARD17', 'score': 10.26}, {'connected_gene': 'LOC643733', 'score': 6.4}, {'connected_gene': 'CARD16', 'score': 6.11}, {'connected_gene': 'LINC02552', 'score': 6.02}, {'connected_gene': 'CASP5', 'score': 5.19}, {'connected_gene': 'ENSG00000270449', 'score': 0.34}, {'connected_gene': 'PIR54951', 'score': 0.26}]
chr11 GH11I105032 105032452 105036193 2.2 [{'connected_gene': 'CASP1', 'score': 550.77}, {'connected_gene': 'CARD17', 'score': 35.46}, {'connected_gene': 'CASP4', 'score': 14.13}, {'connected_gene': 'CASP5', 'score': 13.37}, {'connected_gene': 'CARD16', 'score': 12.42}, {'connected_gene': 'CASP1P2', 'score': 4.34}]
chr11 GH11I105208 105208089 105208344 0.32 [{'connected_gene': 'CARD17', 'score': 24.71}, {'connected_gene': 'CASP5', 'score': 6.95}, {'connected_gene': 'CASP4', 'score': 6.35}, {'connected_gene': 'CARD16', 'score': 5.6}, {'connected_gene': 'GRIA4', 'score': 4.14}, {'connected_gene': 'GC11P105198', 'score': 0.39}, {'connected_gene': 'ENSG00000255336', 'score': 0.28}, {'connected_gene': 'LOC105369468', 'score': 0.06}]
chr11 GH11I105189 105189478 105189950 0.4 [{'connected_gene': 'CARD17', 'score': 32.58}, {'connected_gene': 'CASP5', 'score': 12.73}, {'connected_gene': 'CASP4', 'score': 9.54}, {'connected_gene': 'CARD16', 'score': 8.0}, {'connected_gene': 'GC11M105194', 'score': 0.44}, {'connected_gene': 'LOC105369469', 'score': 0.31}, {'connected_gene': 'LOC105369468', 'score': 0.05}]
chr11 GH11I105297 105297492 105297743 0.64 [{'connected_gene': 'CARD17', 'score': 9.55}, {'connected_gene': 'CASP5', 'score': 6.92}, {'connected_gene': 'CASP4', 'score': 4.72}, {'connected_gene': 'CARD16', 'score': 3.37}, {'connected_gene': 'ENSG00000255336', 'score': 0.23}, {'connected_gene': 'ENSG00000278640', 'score': 0.22}, {'connected_gene': 'LOC105369468', 'score': 0.07}]
chr11 GH11I105177 105177337 105178483 0.59 [{'connected_gene': 'CARD17', 'score': 17.85}, {'connected_gene': 'CASP5', 'score': 3.22}, {'connected_gene': 'CARD16', 'score': 2.84}, {'connected_gene': 'CASP4', 'score': 2.75}, {'connected_gene': 'LOC105369469', 'score': 0.37}, {'connected_gene': 'GC11M105194', 'score': 0.37}, {'connected_gene': 'LOC105369468', 'score': 0.05}]
chr11 GH11I104688 104688810 104689033 0.27 [{'connected_gene': 'CARD17', 'score': 19.41}, {'connected_gene': 'LOC643733', 'score': 5.52}, {'connected_gene': 'CASP4', 'score': 4.5}, {'connected_gene': 'CARD16', 'score': 3.72}, {'connected_gene': 'CASP5', 'score': 2.62}, {'connected_gene': 'ENSG00000270449', 'score': 0.44}, {'connected_gene': 'LOC105369466', 'score': 0.37}, {'connected_gene': 'PIR54951', 'score': 0.22}]
chr11 GH11I105243 105243239 105246157 1.13 [{'connected_gene': 'CARD17', 'score': 8.15}, {'connected_gene': 'GRIA4', 'score': 4.19}, {'connected_gene': 'CASP1', 'score': 4.16}, {'connected_gene': 'CARD16', 'score': 2.63}, {'connected_gene': 'CASP4', 'score': 2.16}, {'connected_gene': 'CASP5', 'score': 1.44}, {'connected_gene': 'ENSG00000255336', 'score': 0.77}, {'connected_gene': 'GC11P105198', 'score': 0.25}, {'connected_gene': 'LOC105369468', 'score': 0.06}]
chr11 GH11I105039 105039150 105039205 0.23 [{'connected_gene': 'CARD17', 'score': 3.86}, {'connected_gene': 'CARD16', 'score': 3.13}, {'connected_gene': 'CASP4', 'score': 2.36}, {'connected_gene': 'CASP5', 'score': 1.97}, {'connected_gene': 'CASP1', 'score': 0.77}, {'connected_gene': 'CASP1P2', 'score': 0.29}]
chr11 GH11I105219 105219926 105220800 0.73 [{'connected_gene': 'CARD17', 'score': 15.05}, {'connected_gene': 'CARD16', 'score': 6.36}, {'connected_gene': 'CASP4', 'score': 6.16}, {'connected_gene': 'CASP5', 'score': 5.69}, {'connected_gene': 'GC11P105198', 'score': 0.34}, {'connected_gene': 'ENSG00000255336', 'score': 0.31}, {'connected_gene': 'LOC105369468', 'score': 0.05}]
chr11 GH11I104694 104694122 104695343 1.03 [{'connected_gene': 'CARD17', 'score': 16.29}, {'connected_gene': 'CASP12', 'score': 11.11}, {'connected_gene': 'LOC643733', 'score': 11.1}, {'connected_gene': 'CASP4', 'score': 3.77}, {'connected_gene': 'CARD16', 'score': 3.21}, {'connected_gene': 'CASP5', 'score': 2.39}, {'connected_gene': 'ENSG00000270449', 'score': 0.39}, {'connected_gene': 'LOC105369466', 'score': 0.34}, {'connected_gene': 'PIR54951', 'score': 0.23}]
chr11 GH11I105027 105027458 105028501 0.4 [{'connected_gene': 'CARD16', 'score': 4.76}, {'connected_gene': 'CASP5', 'score': 0.77}, {'connected_gene': 'CASP1', 'score': 0.44}]
chr11 GH11I105043 105043600 105048357 2.36 [{'connected_gene': 'CARD16', 'score': 554.79}, {'connected_gene': 'CASP5', 'score': 11.44}, {'connected_gene': 'CARD17', 'score': 6.22}, {'connected_gene': 'CASP1', 'score': 0.44}, {'connected_gene': 'CASP1P2', 'score': 0.31}]
chr11 GH11I105164 105164201 105164656 0.31 [{'connected_gene': 'LOC105369469', 'score': 550.77}, {'connected_gene': 'CARD17', 'score': 16.08}, {'connected_gene': 'CASP5', 'score': 12.55}, {'connected_gene': 'CASP4', 'score': 5.98}, {'connected_gene': 'CASP1P2', 'score': 4.13}, {'connected_gene': 'CARD16', 'score': 4.08}, {'connected_gene': 'GC11M105194', 'score': 0.29}, {'connected_gene': 'LOC105369468', 'score': 0.05}]

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