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
ENST00000376344 [[86553225, 86554658], [86559708, 86559904], [86570295, 86570555], [86571078, 86571632]] [[86554425, 86554658], [86559708, 86559904], [86570295, 86570555], [86571078, 86571415]]
ENST00000314700 [[86553228, 86554658], [86559708, 86559904], [86570295, 86570555], [86571078, 86571169], [86571811, 86571901]] [[86554425, 86554658], [86559708, 86559904], [86570295, 86570469]]
ENST00000376340 [[86568562, 86568758], [86570295, 86570555], [86571078, 86571242]] [[86568749, 86568758], [86570295, 86570469]]
NM_032307 [[86553225, 86554658], [86559708, 86559904], [86570295, 86570555], [86571078, 86571657]] [[86554425, 86554658], [86559708, 86559904], [86570295, 86570555], [86571078, 86571415]]
NM_001317997 [[86553225, 86554658], [86559708, 86559904], [86570295, 86570555], [86571078, 86571169], [86571811, 86571901]] [[86554425, 86554658], [86559708, 86559904], [86570295, 86570469]]
Promoter
Chrom Start End Description
chr9 86571432 86571453 CAGE_peak_5_at_C9orf64_5end
chr9 86571472 86571485 CAGE_peak_4_at_C9orf64_5end
chr9 86571540 86571545 CAGE_peak_9_at_C9orf64_5end
chr9 86571596 86571607 CAGE_peak_3_at_C9orf64_5end
chr9 86571628 86571639 CAGE_peak_2_at_C9orf64_5end
chr9 86571641 86571680 CAGE_peak_1_at_C9orf64_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I083983 83983001 83983400 0.63 [{'connected_gene': 'C9orf64', 'score': 11.41}, {'connected_gene': 'KIF27', 'score': 10.41}, {'connected_gene': 'LOC105376116', 'score': 9.84}, {'connected_gene': 'RMI1', 'score': 6.63}, {'connected_gene': 'GC09P083995', 'score': 0.44}]
chr9 GH09I084821 84821228 84823032 0.46 [{'connected_gene': 'C9orf64', 'score': 9.9}, {'connected_gene': 'GC09P084671', 'score': 0.1}, {'connected_gene': 'NTRK2', 'score': 0.1}, {'connected_gene': 'GC09P085030', 'score': 0.08}]
chr9 GH09I083959 83959126 83959335 0.57 [{'connected_gene': 'C9orf64', 'score': 0.77}, {'connected_gene': 'MIR7-1', 'score': 0.39}]
chr9 GH09I083955 83955322 83957605 1.99 [{'connected_gene': 'C9orf64', 'score': 550.77}, {'connected_gene': 'HNRNPK', 'score': 16.35}, {'connected_gene': 'LOC105376114', 'score': 7.48}, {'connected_gene': 'RMI1', 'score': 6.75}, {'connected_gene': 'KIF27', 'score': 0.29}]
chr9 GH09I083933 83933341 83936204 0.94 [{'connected_gene': 'C9orf64', 'score': 12.97}, {'connected_gene': 'LOC105376116', 'score': 10.63}, {'connected_gene': 'RMI1', 'score': 7.12}, {'connected_gene': 'ENSG00000231616', 'score': 4.85}, {'connected_gene': 'KIF27', 'score': 0.39}]
chr9 GH09I083961 83961853 83963112 0.82 [{'connected_gene': 'KIF27', 'score': 10.94}, {'connected_gene': 'LOC105376116', 'score': 10.47}, {'connected_gene': 'RMI1', 'score': 6.04}, {'connected_gene': 'MIR7-1', 'score': 0.44}, {'connected_gene': 'C9orf64', 'score': 0.44}]
chr9 GH09I083965 83965001 83966175 0.97 [{'connected_gene': 'KIF27', 'score': 10.94}, {'connected_gene': 'LOC105376116', 'score': 10.47}, {'connected_gene': 'IDNK', 'score': 8.38}, {'connected_gene': 'ENSG00000231616', 'score': 4.82}, {'connected_gene': 'MIR7-1', 'score': 0.77}, {'connected_gene': 'C9orf64', 'score': 0.44}]
chr9 GH09I083977 83977305 83982808 2.29 [{'connected_gene': 'HNRNPK', 'score': 579.02}, {'connected_gene': 'RMI1', 'score': 557.48}, {'connected_gene': 'KIF27', 'score': 37.05}, {'connected_gene': 'C9orf64', 'score': 11.98}, {'connected_gene': 'LOC105376116', 'score': 9.84}, {'connected_gene': 'IDNK', 'score': 8.27}, {'connected_gene': 'GKAP1', 'score': 5.26}, {'connected_gene': 'ENSG00000235298', 'score': 0.44}]
chr9 GH09I083271 83271096 83272303 0.57 [{'connected_gene': 'FRMD3', 'score': 5.28}, {'connected_gene': 'C9orf64', 'score': 5.21}, {'connected_gene': 'GC09P083268', 'score': 0.77}, {'connected_gene': 'RNU4-29P', 'score': 0.77}]
chr9 GH09I083922 83922566 83922715 0.43 [{'connected_gene': 'LOC105376335', 'score': 550.77}, {'connected_gene': 'KIF27', 'score': 550.77}, {'connected_gene': 'C9orf64', 'score': 0.29}]
chr9 GH09I083937 83937966 83938135 0.63 [{'connected_gene': 'LOC105376116', 'score': 10.61}, {'connected_gene': 'C9orf64', 'score': 0.37}, {'connected_gene': 'KIF27', 'score': 0.37}]
chr9 GH09I083940 83940562 83941608 0.38 [{'connected_gene': 'LOC105376116', 'score': 10.61}, {'connected_gene': 'C9orf64', 'score': 0.37}, {'connected_gene': 'KIF27', 'score': 0.37}]