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
ENST00000338682 [[79852573, 79855861], [79859553, 79859634], [79862507, 79862593], [79864778, 79864926], [79865972, 79866307]] [[79854293, 79855838]]
ENST00000508916 [[79855787, 79855861], [79859553, 79859634], [79860202, 79860288], [79862507, 79862593], [79864778, 79864896], [79865972, 79866069]] [[79855787, 79855838]]
NM_001004441 [[79852573, 79855861], [79859553, 79859634], [79862507, 79862593], [79864778, 79864926], [79865972, 79866304]] [[79854293, 79855838]]
Promoter
Chrom Start End Description
chr5 79866054 79866115 CAGE_peak_1_at_ANKRD34B_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I080573 80573333 80573477 0.23 [{'connected_gene': 'ANKRD34B', 'score': 550.77}, {'connected_gene': 'SPZ1', 'score': 14.2}, {'connected_gene': 'DBIP2', 'score': 0.29}]
chr5 GH05I080569 80569882 80570627 1.31 [{'connected_gene': 'ANKRD34B', 'score': 550.77}, {'connected_gene': 'DHFR', 'score': 9.72}, {'connected_gene': 'RPL7P24', 'score': 0.2}]
chr5 GH05I080606 80606740 80606751 0.25 [{'connected_gene': 'ANKRD34B', 'score': 11.23}, {'connected_gene': 'DBIP2', 'score': 0.77}, {'connected_gene': 'GC05M080611', 'score': 0.44}]
chr5 GH05I080568 80568150 80568271 0.34 [{'connected_gene': 'ANKRD34B', 'score': 7.6}, {'connected_gene': 'RPL7P24', 'score': 0.2}]
chr5 GH05I080554 80554675 80555023 0.54 [{'connected_gene': 'ANKRD34B', 'score': 0.37}, {'connected_gene': 'RPL7P24', 'score': 0.23}]
chr5 GH05I080607 80607904 80608197 0.74 [{'connected_gene': 'DHFR', 'score': 21.77}, {'connected_gene': 'ANKRD34B', 'score': 11.89}, {'connected_gene': 'GC05M080611', 'score': 0.77}, {'connected_gene': 'DBIP2', 'score': 0.77}]
chr5 GH05I080516 80516962 80517111 0.66 [{'connected_gene': 'RPL7P24', 'score': 0.37}, {'connected_gene': 'FAM151B', 'score': 0.31}, {'connected_gene': 'ANKRD34B', 'score': 0.22}]
chr5 GH05I080503 80503001 80504200 0.31 [{'connected_gene': 'RPL7P24', 'score': 0.77}, {'connected_gene': 'FAM151B', 'score': 0.37}, {'connected_gene': 'ANKRD34B', 'score': 0.2}]