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
ENST00000591778 [[76967319, 76968786], [76970769, 76970901], [76972046, 76972238], [76973221, 76973296], [76975905, 76976000]] [[76968544, 76968786], [76970769, 76970901], [76972046, 76972238], [76973221, 76973273]]
ENST00000262776 [[76967319, 76968786], [76969051, 76969304], [76970769, 76970901], [76972046, 76972238], [76973221, 76973296], [76975905, 76976191]] [[76967657, 76968786], [76969051, 76969304], [76970769, 76970901], [76972046, 76972238], [76973221, 76973273]]
ENST00000587311 [[76967337, 76968786], [76969051, 76969257], [76972163, 76972238], [76973221, 76973296], [76975905, 76976005]] [[76969237, 76969257], [76972163, 76972238], [76973221, 76973273]]
ENST00000586720 [[76967366, 76968786], [76969051, 76969207], [76973221, 76973296], [76975905, 76975990]] [[76969202, 76969207], [76973221, 76973273]]
ENST00000587251 [[76967412, 76968786], [76969051, 76969304], [76970769, 76970854], [76972034, 76972238], [76973221, 76973296], [76975905, 76976005]] [[76969303, 76969304], [76970769, 76970854], [76972034, 76972238], [76973221, 76973273]]
ENST00000588508 [[76968467, 76968786], [76969051, 76969304], [76970769, 76971079]] None
ENST00000588198 [[76968551, 76968786], [76969051, 76969425], [76970769, 76970901], [76972046, 76972238], [76973221, 76973296], [76975905, 76976029]] [[76969405, 76969425], [76970769, 76970901], [76972046, 76972238], [76973221, 76973273]]
ENST00000589527 [[76968638, 76968786], [76969051, 76969304], [76970769, 76970901], [76972046, 76972238], [76973221, 76973296], [76973387, 76973405]] [[76968638, 76968786], [76969051, 76969304], [76970769, 76970901], [76972046, 76972238], [76973221, 76973273]]
ENST00000588587 [[76968729, 76969425], [76970769, 76970901], [76972046, 76972238]] None
ENST00000592255 [[76968850, 76969297], [76970769, 76970878]] None
ENST00000585407 [[76968879, 76969304], [76970769, 76970901], [76972046, 76972238], [76973221, 76973296], [76975905, 76976017]] [[76969047, 76969304], [76970769, 76970901], [76972046, 76972238], [76973221, 76973273]]
ENST00000589775 [[76969051, 76969304], [76970769, 76970901], [76972046, 76972238], [76973221, 76973296], [76975527, 76975668], [76975905, 76976005]] [[76969051, 76969304], [76970769, 76970901], [76972046, 76972238], [76973221, 76973273]]
ENST00000589906 [[76969056, 76969304], [76970769, 76970901], [76973221, 76973296], [76975905, 76975990]] [[76969056, 76969304], [76970769, 76970901], [76973221, 76973273]]
ENST00000587310 [[76969081, 76969304], [76970769, 76970901], [76972046, 76972238], [76973024, 76973082], [76973221, 76973296], [76975905, 76975993]] [[76972222, 76972238], [76973024, 76973082], [76973221, 76973273]]
ENST00000588205 [[76969269, 76969304], [76970769, 76970901], [76972046, 76972238], [76973076, 76973298]] [[76973084, 76973273]]
ENST00000588990 [[76970712, 76970901], [76972046, 76972238], [76973024, 76973082], [76973221, 76973296], [76975905, 76976009]] [[76972222, 76972238], [76973024, 76973082], [76973221, 76973273]]
ENST00000588899 [[76970713, 76970901], [76972046, 76972238], [76973076, 76973296], [76975905, 76975973]] [[76973084, 76973273]]
ENST00000591274 [[76970879, 76970901], [76972046, 76972238], [76973221, 76973296], [76973485, 76973555], [76975905, 76975925]] [[76970879, 76970901], [76972046, 76972238], [76973221, 76973273]]
ENST00000586300 [[76972906, 76973296], [76975905, 76975957]] None
NM_005567 [[76967334, 76968786], [76969051, 76969304], [76970769, 76970901], [76972046, 76972238], [76973221, 76973296], [76975905, 76976061]] [[76967657, 76968786], [76969051, 76969304], [76970769, 76970901], [76972046, 76972238], [76973221, 76973273]]
Promoter
Chrom Start End Description
chr17 76975997 76976051 CAGE_peak_1_at_LGALS3BP_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I078958 78958238 78959358 0.93 [{'connected_gene': 'LGALS3BP', 'score': 12.99}, {'connected_gene': 'USP36', 'score': 12.26}, {'connected_gene': 'GC17P078963', 'score': 0.77}, {'connected_gene': 'TIMP2', 'score': 0.29}]
chr17 GH17I078974 78974329 78981308 2.43 [{'connected_gene': 'LGALS3BP', 'score': 550.77}, {'connected_gene': 'USP36', 'score': 13.44}, {'connected_gene': 'CANT1', 'score': 8.43}, {'connected_gene': 'GC17P078963', 'score': 0.37}]
chr17 GH17I078973 78973201 78973635 0.51 [{'connected_gene': 'LGALS3BP', 'score': 0.44}, {'connected_gene': 'GC17P078963', 'score': 0.39}]
chr17 GH17I078985 78985649 78988270 1.32 [{'connected_gene': 'CANT1', 'score': 27.73}, {'connected_gene': 'USP36', 'score': 20.39}, {'connected_gene': 'C1QTNF1', 'score': 11.36}, {'connected_gene': 'ENGASE', 'score': 5.88}, {'connected_gene': 'LGALS3BP', 'score': 0.44}, {'connected_gene': 'PIR37172', 'score': 0.44}]
chr17 GH17I078970 78970938 78972028 1.26 [{'connected_gene': 'CANT1', 'score': 5.16}, {'connected_gene': 'LGALS3BP', 'score': 0.44}, {'connected_gene': 'GC17P078963', 'score': 0.44}]
chr17 GH17I078964 78964841 78966031 0.46 [{'connected_gene': 'CANT1', 'score': 5.7}, {'connected_gene': 'GC17P078963', 'score': 0.77}, {'connected_gene': 'LGALS3BP', 'score': 0.39}]
chr17 GH17I078966 78966443 78967259 0.69 [{'connected_gene': 'GC17P078963', 'score': 0.77}, {'connected_gene': 'LGALS3BP', 'score': 0.39}]
chr17 GH17I078988 78988299 78988350 0.31 [{'connected_gene': 'PIR37172', 'score': 0.77}, {'connected_gene': 'LGALS3BP', 'score': 0.44}]