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
ENST00000305885 [[61560108, 61560500], [61562812, 61564716]] [[61562833, 61563976]]
ENST00000535723 [[61560422, 61560682], [61562812, 61563328]] [[61562833, 61563328]]
ENST00000535307 [[61563411, 61563868], [61564393, 61564704]] [[61563411, 61563868], [61564393, 61564399]]
NM_004111 [[61560108, 61560500], [61562812, 61564716]] [[61562833, 61563976]]
Promoter
Chrom Start End Description
chr11 61560348 61560419 CAGE_peak_1_at_FEN1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I061826 61826073 61838665 2.77 [{'connected_gene': 'FADS2', 'score': 632.21}, {'connected_gene': 'MTA2', 'score': 16.23}, {'connected_gene': 'FADS1', 'score': 14.69}, {'connected_gene': 'TMEM138', 'score': 14.56}, {'connected_gene': 'EML3', 'score': 14.16}, {'connected_gene': 'STX5', 'score': 13.27}, {'connected_gene': 'CPSF7', 'score': 13.12}, {'connected_gene': 'NXF1', 'score': 12.41}, {'connected_gene': 'GANAB', 'score': 12.01}, {'connected_gene': 'TMEM179B', 'score': 11.85}, {'connected_gene': 'INTS5', 'score': 11.72}, {'connected_gene': 'CYB561A3', 'score': 11.46}, {'connected_gene': 'FADS3', 'score': 11.23}, {'connected_gene': 'CSKMT', 'score': 11.0}, {'connected_gene': 'LOC105369332', 'score': 10.41}, {'connected_gene': 'BEST1', 'score': 10.36}, {'connected_gene': 'TTC9C', 'score': 10.32}, {'connected_gene': 'UBXN1', 'score': 10.29}, {'connected_gene': 'POLR2G', 'score': 4.77}, {'connected_gene': 'FEN1', 'score': 2.15}, {'connected_gene': 'INCENP', 'score': 1.62}, {'connected_gene': 'PIR43939', 'score': 0.77}, {'connected_gene': 'MIR6746', 'score': 0.25}]
chr11 GH11I061819 61819697 61821435 0.87 [{'connected_gene': 'FADS2', 'score': 27.08}, {'connected_gene': 'TMEM258', 'score': 10.73}, {'connected_gene': 'FEN1', 'score': 10.73}, {'connected_gene': 'MIR611', 'score': 10.73}, {'connected_gene': 'MIR1908', 'score': 0.44}, {'connected_gene': 'PIR43939', 'score': 0.44}, {'connected_gene': 'FADS1', 'score': 0.44}]
chr11 GH11I061791 61791191 61794259 2.27 [{'connected_gene': 'FADS2', 'score': 583.16}, {'connected_gene': 'MIR611', 'score': 550.77}, {'connected_gene': 'FEN1', 'score': 550.77}, {'connected_gene': 'TMEM258', 'score': 550.77}, {'connected_gene': 'CPSF7', 'score': 45.31}, {'connected_gene': 'CSKMT', 'score': 43.36}, {'connected_gene': 'GANAB', 'score': 40.43}, {'connected_gene': 'TMEM138', 'score': 37.3}, {'connected_gene': 'EML3', 'score': 29.01}, {'connected_gene': 'TUT1', 'score': 28.93}, {'connected_gene': 'INTS5', 'score': 27.86}, {'connected_gene': 'TMEM109', 'score': 27.59}, {'connected_gene': 'RN7SL23P', 'score': 26.63}, {'connected_gene': 'MTA2', 'score': 23.47}, {'connected_gene': 'TAF6L', 'score': 20.06}, {'connected_gene': 'TMEM179B', 'score': 18.46}, {'connected_gene': 'UBXN1', 'score': 18.24}, {'connected_gene': 'SDHAF2', 'score': 12.72}, {'connected_gene': 'MIR1908', 'score': 12.24}, {'connected_gene': 'FADS1', 'score': 12.18}, {'connected_gene': 'EEF1G', 'score': 11.76}, {'connected_gene': 'VPS37C', 'score': 10.96}, {'connected_gene': 'BEST1', 'score': 10.61}, {'connected_gene': 'GC11P061758', 'score': 0.29}]
chr11 GH11I061796 61796829 61798814 1.21 [{'connected_gene': 'FADS2', 'score': 25.57}, {'connected_gene': 'FADS1', 'score': 11.86}, {'connected_gene': 'DKFZP434K028', 'score': 11.67}, {'connected_gene': 'BEST1', 'score': 10.6}, {'connected_gene': 'FEN1', 'score': 0.44}, {'connected_gene': 'MIR1908', 'score': 0.37}, {'connected_gene': 'GC11P061758', 'score': 0.28}]
chr11 GH11I061861 61861267 61864325 0.63 [{'connected_gene': 'FADS2', 'score': 23.17}, {'connected_gene': 'EEF1G', 'score': 6.31}, {'connected_gene': 'INCENP', 'score': 5.67}, {'connected_gene': 'FEN1', 'score': 5.36}, {'connected_gene': 'MIR6746', 'score': 0.37}, {'connected_gene': 'FADS1', 'score': 0.29}]
chr11 GH11I061869 61869496 61871918 1.61 [{'connected_gene': 'FADS2', 'score': 25.01}, {'connected_gene': 'EEF1G', 'score': 5.26}, {'connected_gene': 'FEN1', 'score': 5.07}, {'connected_gene': 'MIR6746', 'score': 0.44}, {'connected_gene': 'FADS1', 'score': 0.26}]
chr11 GH11I061731 61731896 61734041 1.1 [{'connected_gene': 'DAGLA', 'score': 16.92}, {'connected_gene': 'MYRF', 'score': 13.12}, {'connected_gene': 'DKFZP434K028', 'score': 12.6}, {'connected_gene': 'TMEM258', 'score': 11.65}, {'connected_gene': 'FEN1', 'score': 11.65}, {'connected_gene': 'MIR611', 'score': 11.65}, {'connected_gene': 'SYT7', 'score': 10.46}, {'connected_gene': 'PIR41833', 'score': 0.39}]
chr11 GH11I062024 62024108 62027020 1.87 [{'connected_gene': 'FTH1', 'score': 20.41}, {'connected_gene': 'BEST1', 'score': 11.31}, {'connected_gene': 'DAGLA', 'score': 8.05}, {'connected_gene': 'FEN1', 'score': 5.73}, {'connected_gene': 'TTC9C', 'score': 4.23}, {'connected_gene': 'RPS2P37', 'score': 0.39}, {'connected_gene': 'GC11P062053', 'score': 0.31}]
chr11 GH11I062424 62424318 62434799 1.44 [{'connected_gene': 'LOC102723765', 'score': 562.31}, {'connected_gene': 'ASRGL1', 'score': 22.42}, {'connected_gene': 'SCGB1A1', 'score': 11.49}, {'connected_gene': 'ENSG00000255126', 'score': 11.43}, {'connected_gene': 'ENSG00000250659', 'score': 11.32}, {'connected_gene': 'AHNAK', 'score': 11.3}, {'connected_gene': 'ENSG00000257058', 'score': 11.3}, {'connected_gene': 'EEF1G', 'score': 10.64}, {'connected_gene': 'ENSG00000255508', 'score': 10.62}, {'connected_gene': 'TUT1', 'score': 10.62}, {'connected_gene': 'FEN1', 'score': 5.22}, {'connected_gene': 'INCENP', 'score': 4.92}, {'connected_gene': 'BSCL2', 'score': 4.26}, {'connected_gene': 'GC11P062515', 'score': 0.17}]