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
ENST00000368891 [[124690418, 124692177], [124697220, 124697675], [124708164, 124708371], [124711469, 124711542], [124712344, 124712544], [124713530, 124713827]] None
ENST00000481909 [[124691023, 124692177], [124697220, 124697675], [124708164, 124708371], [124711469, 124711542], [124712344, 124712548], [124713530, 124713919]] [[124691942, 124692177], [124697220, 124697675], [124708164, 124708371], [124711469, 124711542], [124712344, 124712548], [124713530, 124713694]]
ENST00000462191 [[124691924, 124692177], [124692889, 124692975]] None
ENST00000470158 [[124692118, 124692177], [124697220, 124697675], [124708164, 124708271], [124711469, 124711523]] None
NM_024942 [[124690418, 124692177], [124697220, 124697675], [124708164, 124708371], [124711469, 124711542], [124712344, 124712548], [124713530, 124713919]] [[124691942, 124692177], [124697220, 124697675], [124708164, 124708371], [124711469, 124711542], [124712344, 124712548], [124713530, 124713694]]
Promoter
Chrom Start End Description
chr10 124713698 124713749 CAGE_peak_1_at_C10orf88_5end
chr10 124713842 124713853 CAGE_peak_3_at_C10orf88_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I122860 122860620 122865741 1.25 [{'connected_gene': 'C10orf88', 'score': 10.64}, {'connected_gene': 'ACADSB', 'score': 4.72}, {'connected_gene': 'CUZD1', 'score': 0.39}, {'connected_gene': 'LOC399815', 'score': 0.37}, {'connected_gene': 'FAM24B-CUZD1', 'score': 0.37}, {'connected_gene': 'FAM24B', 'score': 0.37}, {'connected_gene': 'GC10M122775', 'score': 0.12}]
chr10 GH10I122939 122939094 122940492 0.56 [{'connected_gene': 'C10orf88', 'score': 6.96}, {'connected_gene': 'ACADSB', 'score': 4.89}, {'connected_gene': 'PSTK', 'score': 0.39}, {'connected_gene': 'FAM24A', 'score': 0.31}, {'connected_gene': 'GC10M122775', 'score': 0.21}]
chr10 GH10I122849 122849718 122857375 1.16 [{'connected_gene': 'C10orf88', 'score': 20.83}, {'connected_gene': 'FAM24B', 'score': 11.47}, {'connected_gene': 'LOC399815', 'score': 11.47}, {'connected_gene': 'ACADSB', 'score': 8.92}, {'connected_gene': 'IKZF5', 'score': 8.92}, {'connected_gene': 'CUZD1', 'score': 0.77}, {'connected_gene': 'FAM24B-CUZD1', 'score': 0.31}, {'connected_gene': 'GC10M122775', 'score': 0.11}]
chr10 GH10I122953 122953200 122954934 2.09 [{'connected_gene': 'C10orf88', 'score': 575.86}, {'connected_gene': 'PSTK', 'score': 550.77}, {'connected_gene': 'BUB3', 'score': 35.85}, {'connected_gene': 'IKZF5', 'score': 19.4}, {'connected_gene': 'FAM24A', 'score': 0.26}, {'connected_gene': 'GC10M122775', 'score': 0.25}]
chr10 GH10I122331 122331219 122332040 1.03 [{'connected_gene': 'IKZF5', 'score': 12.52}, {'connected_gene': 'BUB3', 'score': 12.23}, {'connected_gene': 'FAM24B', 'score': 10.92}, {'connected_gene': 'C10orf88', 'score': 10.58}, {'connected_gene': 'ARMS2', 'score': 10.03}, {'connected_gene': 'GC10P122346', 'score': 0.39}, {'connected_gene': 'BTBD16', 'score': 0.21}]
chr10 GH10I122845 122845405 122847303 1.04 [{'connected_gene': 'CUZD1', 'score': 550.77}, {'connected_gene': 'ACADSB', 'score': 13.71}, {'connected_gene': 'FAM24B', 'score': 11.45}, {'connected_gene': 'LOC399815', 'score': 11.45}, {'connected_gene': 'C10orf88', 'score': 9.85}, {'connected_gene': 'IKZF5', 'score': 8.92}, {'connected_gene': 'ENSG00000272135', 'score': 0.31}, {'connected_gene': 'FAM24B-CUZD1', 'score': 0.29}, {'connected_gene': 'GC10M122775', 'score': 0.1}]
chr10 GH10I123846 123846529 123850108 0.86 [{'connected_gene': 'EEF1AKMT2', 'score': 10.72}, {'connected_gene': 'IKZF5', 'score': 10.66}, {'connected_gene': 'C10orf88', 'score': 10.34}, {'connected_gene': 'LOC105378534', 'score': 0.25}, {'connected_gene': 'LOC105378533', 'score': 0.19}, {'connected_gene': 'CPXM2', 'score': 0.16}]
chr10 GH10I122930 122930335 122931984 0.82 [{'connected_gene': 'ACADSB', 'score': 14.67}, {'connected_gene': 'IKZF5', 'score': 10.19}, {'connected_gene': 'PSTK', 'score': 0.34}, {'connected_gene': 'FAM24A', 'score': 0.34}, {'connected_gene': 'C10orf88', 'score': 0.34}, {'connected_gene': 'GC10M122775', 'score': 0.2}]
chr10 GH10I122979 122979686 122981434 2.06 [{'connected_gene': 'PSTK', 'score': 550.31}, {'connected_gene': 'ACADSB', 'score': 23.45}, {'connected_gene': 'BUB3', 'score': 16.98}, {'connected_gene': 'IKZF5', 'score': 11.59}, {'connected_gene': 'BTBD16', 'score': 5.2}, {'connected_gene': 'GC10M122775', 'score': 0.34}, {'connected_gene': 'C10orf88', 'score': 0.31}]
chr10 GH10I122284 122284411 122288948 0.84 [{'connected_gene': 'BTBD16', 'score': 37.53}, {'connected_gene': 'C10orf88', 'score': 15.82}, {'connected_gene': 'HTRA1', 'score': 10.64}, {'connected_gene': 'GC10P122346', 'score': 0.22}]
chr10 GH10I123428 123428927 123429064 0.28 [{'connected_gene': 'ENSG00000225152', 'score': 550.77}, {'connected_gene': 'C10orf88', 'score': 1.29}, {'connected_gene': 'LOC105378531', 'score': 0.18}, {'connected_gene': 'GC10M123502', 'score': 0.18}]