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
ENST00000529631 [[61727189, 61727376], [61734783, 61735103]] [[61727244, 61727376], [61734783, 61734897]]
ENST00000529191 [[61727189, 61727399], [61734783, 61735103]] [[61727204, 61727399], [61734783, 61734897]]
ENST00000530019 [[61727293, 61727376], [61732840, 61732987], [61734783, 61735103]] [[61727293, 61727376], [61732840, 61732987], [61734783, 61734897]]
ENST00000273550 [[61731756, 61732363], [61732458, 61732584], [61732840, 61732987], [61734783, 61735132]] [[61732198, 61732363], [61732458, 61732584], [61732840, 61732987], [61734783, 61734897]]
ENST00000532829 [[61732037, 61732363], [61732458, 61732577], [61732840, 61732987], [61734783, 61735103]] [[61732550, 61732577], [61732840, 61732987], [61734783, 61734897]]
ENST00000534180 [[61732037, 61732363], [61732458, 61732584], [61732840, 61733049], [61734783, 61735105]] [[61733010, 61733049], [61734783, 61734897]]
ENST00000526640 [[61732056, 61732363], [61732458, 61732584], [61732840, 61732987], [61734873, 61735079]] [[61732198, 61732363], [61732458, 61732584], [61732840, 61732987], [61734873, 61734897]]
ENST00000534719 [[61732218, 61732584], [61732840, 61732987], [61734783, 61735058]] None
ENST00000533138 [[61732309, 61732363], [61732458, 61732987], [61734783, 61735085]] None
ENST00000529548 [[61732460, 61732584], [61732840, 61733049], [61734783, 61734843], [61734929, 61735103]] [[61732460, 61732584], [61732840, 61732891]]
ENST00000532601 [[61732072, 61732363], [61732458, 61732584], [61732840, 61732987], [61734460, 61734638]] [[61732198, 61732363], [61732458, 61732584], [61732840, 61732891]]
NM_002032 [[61731756, 61732363], [61732458, 61732584], [61732840, 61732987], [61734783, 61735132]] [[61732198, 61732363], [61732458, 61732584], [61732840, 61732987], [61734783, 61734897]]
Promoter
Chrom Start End Description
chr11 61732595 61732605 CAGE_peak_7_at_FTH1_5end
chr11 61734599 61734646 CAGE_peak_3_at_FTH1_5end
chr11 61735029 61735056 CAGE_peak_2_at_FTH1_5end
chr11 61735103 61735112 CAGE_peak_1_at_FTH1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I060970 60970601 60975095 1.72 [{'connected_gene': 'CD6', 'score': 570.28}, {'connected_gene': 'CD5', 'score': 22.13}, {'connected_gene': 'SLC15A3', 'score': 11.97}, {'connected_gene': 'TMEM132A', 'score': 11.87}, {'connected_gene': 'VPS37C', 'score': 10.96}, {'connected_gene': 'CCDC86', 'score': 5.41}, {'connected_gene': 'FTH1', 'score': 4.22}, {'connected_gene': 'SDHAF2', 'score': 1.17}, {'connected_gene': 'RNU6-933P', 'score': 0.39}]
chr11 GH11I062443 62443462 62446819 1.29 [{'connected_gene': 'ASRGL1', 'score': 16.17}, {'connected_gene': 'AHNAK', 'score': 14.11}, {'connected_gene': 'SCGB1A1', 'score': 12.0}, {'connected_gene': 'ENSG00000255126', 'score': 11.97}, {'connected_gene': 'ENSG00000250659', 'score': 11.28}, {'connected_gene': 'ENSG00000257058', 'score': 11.27}, {'connected_gene': 'EEF1G', 'score': 10.48}, {'connected_gene': 'ENSG00000255508', 'score': 10.47}, {'connected_gene': 'TUT1', 'score': 10.47}, {'connected_gene': 'TTC9C', 'score': 5.19}, {'connected_gene': 'FTH1', 'score': 5.11}, {'connected_gene': 'NXF1', 'score': 4.23}, {'connected_gene': 'SLC3A2', 'score': 3.78}, {'connected_gene': 'STX5', 'score': 3.49}, {'connected_gene': 'EML3', 'score': 1.89}, {'connected_gene': 'WDR74', 'score': 1.78}, {'connected_gene': 'LOC102723765', 'score': 0.37}, {'connected_gene': 'GC11P062515', 'score': 0.19}]
chr11 GH11I061693 61693679 61702169 2.14 [{'connected_gene': 'DAGLA', 'score': 567.51}, {'connected_gene': 'MYRF', 'score': 20.92}, {'connected_gene': 'DKFZP434K028', 'score': 19.36}, {'connected_gene': 'SYT7', 'score': 11.01}, {'connected_gene': 'FTH1', 'score': 9.15}, {'connected_gene': 'CYB561A3', 'score': 7.63}, {'connected_gene': 'VWCE', 'score': 4.66}, {'connected_gene': 'SDHAF2', 'score': 4.48}, {'connected_gene': 'DDB1', 'score': 4.33}, {'connected_gene': 'CPSF7', 'score': 4.26}, {'connected_gene': 'PIR41833', 'score': 0.25}]
chr11 GH11I061680 61679201 61679600 0.74 [{'connected_gene': 'DAGLA', 'score': 571.32}, {'connected_gene': 'FTH1', 'score': 5.08}, {'connected_gene': 'CPSF7', 'score': 3.68}, {'connected_gene': 'SDHAF2', 'score': 3.27}, {'connected_gene': 'CYB561A3', 'score': 3.0}, {'connected_gene': 'GC11M061648', 'score': 0.34}]
chr11 GH11I061688 61688330 61689600 1.21 [{'connected_gene': 'DAGLA', 'score': 12.5}, {'connected_gene': 'FTH1', 'score': 3.75}, {'connected_gene': 'CYB561A3', 'score': 2.82}, {'connected_gene': 'CPSF7', 'score': 2.31}, {'connected_gene': 'SDHAF2', 'score': 2.21}, {'connected_gene': 'PIR41833', 'score': 0.23}]
chr11 GH11I061715 61715801 61719600 1.46 [{'connected_gene': 'MYRF', 'score': 15.18}, {'connected_gene': 'DAGLA', 'score': 10.01}, {'connected_gene': 'FTH1', 'score': 2.51}, {'connected_gene': 'CPSF7', 'score': 2.03}, {'connected_gene': 'CYB561A3', 'score': 1.67}, {'connected_gene': 'SDHAF2', 'score': 1.5}, {'connected_gene': 'PIR41833', 'score': 0.31}]
chr11 GH11I062004 62004109 62006000 1.14 [{'connected_gene': 'BEST1', 'score': 11.47}, {'connected_gene': 'RAB3IL1', 'score': 11.18}, {'connected_gene': 'DAGLA', 'score': 8.05}, {'connected_gene': 'FTH1', 'score': 7.41}, {'connected_gene': 'UBXN1', 'score': 4.37}, {'connected_gene': 'CSKMT', 'score': 4.18}, {'connected_gene': 'GC11M062012', 'score': 0.44}, {'connected_gene': 'GC11M061991', 'score': 0.39}]
chr11 GH11I062063 62063970 62065353 0.31 [{'connected_gene': 'BEST1', 'score': 11.54}, {'connected_gene': 'RAB3IL1', 'score': 11.52}, {'connected_gene': 'FADS3', 'score': 11.48}, {'connected_gene': 'FTH1', 'score': 11.33}, {'connected_gene': 'FADS1', 'score': 10.76}, {'connected_gene': 'ENSG00000257058', 'score': 4.43}, {'connected_gene': 'LBHD1', 'score': 4.16}, {'connected_gene': 'ENSG00000254424', 'score': 0.44}, {'connected_gene': 'GC11P062053', 'score': 0.39}, {'connected_gene': 'LOC100507521', 'score': 0.37}]
chr11 GH11I061910 61910018 61912499 0.99 [{'connected_gene': 'BEST1', 'score': 12.03}, {'connected_gene': 'RAB3IL1', 'score': 11.65}, {'connected_gene': 'FADS1', 'score': 11.59}, {'connected_gene': 'FTH1', 'score': 11.06}, {'connected_gene': 'FADS2', 'score': 7.45}, {'connected_gene': 'PIR40157', 'score': 0.77}, {'connected_gene': 'GC11P061939', 'score': 0.31}]
chr11 GH11I062463 62463033 62463743 1 [{'connected_gene': 'SLC3A2', 'score': 2.27}, {'connected_gene': 'FTH1', 'score': 2.17}, {'connected_gene': 'STX5', 'score': 1.88}, {'connected_gene': 'NXF1', 'score': 1.24}, {'connected_gene': 'LOC102723765', 'score': 0.28}, {'connected_gene': 'GC11P062515', 'score': 0.23}, {'connected_gene': 'AHNAK', 'score': 0.16}]
chr11 GH11I061921 61921878 61925920 1.51 [{'connected_gene': 'RAB3IL1', 'score': 28.84}, {'connected_gene': 'FADS3', 'score': 11.96}, {'connected_gene': 'BEST1', 'score': 11.88}, {'connected_gene': 'FADS1', 'score': 10.66}, {'connected_gene': 'FTH1', 'score': 10.28}, {'connected_gene': 'DKFZP434K028', 'score': 9.35}, {'connected_gene': 'MYRF', 'score': 9.34}, {'connected_gene': 'GC11P061939', 'score': 0.39}, {'connected_gene': 'PIR40157', 'score': 0.37}]
chr11 GH11I062032 62032930 62034818 1.48 [{'connected_gene': 'WDR74', 'score': 17.11}, {'connected_gene': 'CSKMT', 'score': 12.17}, {'connected_gene': 'INTS5', 'score': 11.32}, {'connected_gene': 'VPS37C', 'score': 11.29}, {'connected_gene': 'CPSF7', 'score': 10.83}, {'connected_gene': 'LRRN4CL', 'score': 10.7}, {'connected_gene': 'UBXN1', 'score': 10.11}, {'connected_gene': 'TUT1', 'score': 10.07}, {'connected_gene': 'TAF6L', 'score': 10.07}, {'connected_gene': 'RAB3IL1', 'score': 5.71}, {'connected_gene': 'FTH1', 'score': 4.6}, {'connected_gene': 'DAGLA', 'score': 3.01}, {'connected_gene': 'GC11P062053', 'score': 0.37}, {'connected_gene': 'RPS2P37', 'score': 0.34}]
chr11 GH11I060980 60980670 60985328 0.54 [{'connected_gene': 'SLC15A3', 'score': 11.92}, {'connected_gene': 'TMEM132A', 'score': 11.85}, {'connected_gene': 'CD5', 'score': 11.21}, {'connected_gene': 'VPS37C', 'score': 10.97}, {'connected_gene': 'CD6', 'score': 6.04}, {'connected_gene': 'FTH1', 'score': 5.12}, {'connected_gene': 'RNU6-933P', 'score': 0.77}]
chr11 GH11I060976 60976865 60980370 0.8 [{'connected_gene': 'SLC15A3', 'score': 11.94}, {'connected_gene': 'TMEM132A', 'score': 11.86}, {'connected_gene': 'CD5', 'score': 11.2}, {'connected_gene': 'VPS37C', 'score': 10.96}, {'connected_gene': 'FTH1', 'score': 5.1}, {'connected_gene': 'PTGDR2', 'score': 4.93}, {'connected_gene': 'CD6', 'score': 4.81}, {'connected_gene': 'RNU6-933P', 'score': 0.44}]
chr11 GH11I062108 62108001 62110019 0.97 [{'connected_gene': 'INCENP', 'score': 13.93}, {'connected_gene': 'RAB3IL1', 'score': 11.55}, {'connected_gene': 'FADS3', 'score': 11.53}, {'connected_gene': 'BEST1', 'score': 11.16}, {'connected_gene': 'FTH1', 'score': 11.0}, {'connected_gene': 'FADS1', 'score': 10.78}, {'connected_gene': 'MYRF', 'score': 9.77}, {'connected_gene': 'DKFZP434K028', 'score': 9.77}, {'connected_gene': 'GC11M062088', 'score': 0.37}]
chr11 GH11I062456 62456163 62459732 1.57 [{'connected_gene': 'BSCL2', 'score': 21.18}, {'connected_gene': 'NXF1', 'score': 16.61}, {'connected_gene': 'SNHG1', 'score': 12.29}, {'connected_gene': 'GANAB', 'score': 11.38}, {'connected_gene': 'EML3', 'score': 10.98}, {'connected_gene': 'MTA2', 'score': 10.73}, {'connected_gene': 'CSKMT', 'score': 10.2}, {'connected_gene': 'UBXN1', 'score': 9.88}, {'connected_gene': 'FTH1', 'score': 7.05}, {'connected_gene': 'SLC3A2', 'score': 5.69}, {'connected_gene': 'ENSG00000256181', 'score': 5.27}, {'connected_gene': 'STX5', 'score': 5.11}, {'connected_gene': 'WDR74', 'score': 1.89}, {'connected_gene': 'AHNAK', 'score': 1.33}, {'connected_gene': 'LOC102723765', 'score': 0.29}, {'connected_gene': 'GC11P062515', 'score': 0.22}]
chr11 GH11I062020 62020769 62020913 0.29 [{'connected_gene': 'FTH1', 'score': 21.42}, {'connected_gene': 'DAGLA', 'score': 12.54}, {'connected_gene': 'BEST1', 'score': 11.65}, {'connected_gene': 'RAB3IL1', 'score': 10.88}, {'connected_gene': 'RPS2P37', 'score': 0.44}, {'connected_gene': 'GC11P062053', 'score': 0.29}]
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 GH11I062018 62018401 62019800 1.27 [{'connected_gene': 'FTH1', 'score': 16.62}, {'connected_gene': 'BEST1', 'score': 11.65}, {'connected_gene': 'RAB3IL1', 'score': 10.88}, {'connected_gene': 'DAGLA', 'score': 2.23}, {'connected_gene': 'RPS2P37', 'score': 0.44}, {'connected_gene': 'GC11P062053', 'score': 0.29}]
chr11 GH11I061995 61995007 61995187 0.64 [{'connected_gene': 'FTH1', 'score': 11.47}, {'connected_gene': 'BEST1', 'score': 11.36}, {'connected_gene': 'RAB3IL1', 'score': 10.88}, {'connected_gene': 'FADS1', 'score': 10.62}, {'connected_gene': 'FADS2', 'score': 9.75}, {'connected_gene': 'MYRF', 'score': 1.72}, {'connected_gene': 'GC11M061991', 'score': 0.77}, {'connected_gene': 'GC11M062012', 'score': 0.37}]
chr11 GH11I062030 62030189 62030358 0.31 [{'connected_gene': 'FTH1', 'score': 12.37}, {'connected_gene': 'BEST1', 'score': 11.31}, {'connected_gene': 'RPS2P37', 'score': 0.37}, {'connected_gene': 'GC11P062053', 'score': 0.34}]
chr11 GH11I062104 62104194 62106688 1.35 [{'connected_gene': 'FTH1', 'score': 14.08}, {'connected_gene': 'INCENP', 'score': 13.68}, {'connected_gene': 'RAB3IL1', 'score': 11.56}, {'connected_gene': 'FADS3', 'score': 11.53}, {'connected_gene': 'BEST1', 'score': 11.16}, {'connected_gene': 'FADS1', 'score': 10.78}, {'connected_gene': 'MYRF', 'score': 9.77}, {'connected_gene': 'DKFZP434K028', 'score': 9.77}, {'connected_gene': 'DAGLA', 'score': 6.85}, {'connected_gene': 'GC11M062088', 'score': 0.39}]
chr11 GH11I061025 61025547 61029001 1.11 [{'connected_gene': 'FTH1', 'score': 5.38}, {'connected_gene': 'LOC105369326', 'score': 0.37}, {'connected_gene': 'ENSG00000256733', 'score': 0.31}]
chr11 GH11I061997 61997076 61997118 0.63 [{'connected_gene': 'FTH1', 'score': 11.92}, {'connected_gene': 'GC11M061991', 'score': 0.44}, {'connected_gene': 'GC11M062012', 'score': 0.37}]
chr11 GH11I060985 60985341 60988202 1.15 [{'connected_gene': 'RNU6-933P', 'score': 550.77}, {'connected_gene': 'CD6', 'score': 30.06}, {'connected_gene': 'CD5', 'score': 22.75}, {'connected_gene': 'FTH1', 'score': 4.17}, {'connected_gene': 'SDHAF2', 'score': 2.44}, {'connected_gene': 'TRA-TGC10-1', 'score': 0.44}]
chr11 GH11I062081 62081550 62082400 1.1 [{'connected_gene': 'LOC100507521', 'score': 550.77}, {'connected_gene': 'ENSG00000255553', 'score': 550.77}, {'connected_gene': 'BEST1', 'score': 12.01}, {'connected_gene': 'RAB3IL1', 'score': 11.88}, {'connected_gene': 'FADS3', 'score': 11.84}, {'connected_gene': 'FTH1', 'score': 11.81}, {'connected_gene': 'FADS1', 'score': 11.09}, {'connected_gene': 'PIR51193', 'score': 0.44}]
chr11 GH11I062053 62053053 62053058 0.63 [{'connected_gene': 'GC11P062053', 'score': 550.77}, {'connected_gene': 'BEST1', 'score': 11.88}, {'connected_gene': 'FTH1', 'score': 11.58}, {'connected_gene': 'RAB3IL1', 'score': 11.25}, {'connected_gene': 'FADS3', 'score': 11.2}, {'connected_gene': 'FADS1', 'score': 11.1}, {'connected_gene': 'INCENP', 'score': 10.94}, {'connected_gene': 'LOC100507521', 'score': 0.31}, {'connected_gene': 'RPS2P37', 'score': 0.26}]
chr11 GH11I062012 62012129 62014358 1.62 [{'connected_gene': 'GC11M062012', 'score': 550.77}, {'connected_gene': 'RPS2P37', 'score': 550.77}, {'connected_gene': 'CSKMT', 'score': 15.24}, {'connected_gene': 'GANAB', 'score': 12.97}, {'connected_gene': 'SNHG1', 'score': 12.71}, {'connected_gene': 'CPSF7', 'score': 11.9}, {'connected_gene': 'TUT1', 'score': 11.13}, {'connected_gene': 'TMEM138', 'score': 11.01}, {'connected_gene': 'NXF1', 'score': 10.38}, {'connected_gene': 'TAF6L', 'score': 10.24}, {'connected_gene': 'FTH1', 'score': 1.63}, {'connected_gene': 'DAGLA', 'score': 1.43}, {'connected_gene': 'GC11P062053', 'score': 0.26}]
chr11 GH11I062054 62054201 62054919 1.34 [{'connected_gene': 'GC11P062053', 'score': 550.77}, {'connected_gene': 'INCENP', 'score': 15.78}, {'connected_gene': 'BEST1', 'score': 11.88}, {'connected_gene': 'FTH1', 'score': 11.58}, {'connected_gene': 'RAB3IL1', 'score': 11.25}, {'connected_gene': 'FADS3', 'score': 11.2}, {'connected_gene': 'FADS1', 'score': 11.1}, {'connected_gene': 'ENSG00000254424', 'score': 0.37}, {'connected_gene': 'LOC100507521', 'score': 0.31}]
chr11 GH11I062055 62055117 62055258 0.38 [{'connected_gene': 'GC11P062053', 'score': 550.77}, {'connected_gene': 'INCENP', 'score': 15.26}, {'connected_gene': 'BEST1', 'score': 11.88}, {'connected_gene': 'FTH1', 'score': 11.58}, {'connected_gene': 'RAB3IL1', 'score': 11.25}, {'connected_gene': 'FADS3', 'score': 11.2}, {'connected_gene': 'FADS1', 'score': 11.1}, {'connected_gene': 'ENSG00000254424', 'score': 0.37}, {'connected_gene': 'LOC100507521', 'score': 0.31}]
chr11 GH11I061959 61959619 61960396 0.59 [{'connected_gene': 'GC11M061964', 'score': 0.77}, {'connected_gene': 'FTH1', 'score': 0.44}, {'connected_gene': 'BEST1', 'score': 0.39}]
chr11 GH11I061960 61960735 61977112 2.65 [{'connected_gene': 'GC11M061970', 'score': 550.77}, {'connected_gene': 'FTH1', 'score': 550.77}, {'connected_gene': 'GC11M061969', 'score': 550.77}, {'connected_gene': 'LOC399900', 'score': 550.77}, {'connected_gene': 'GC11M061968', 'score': 550.77}, {'connected_gene': 'NXF1', 'score': 56.75}, {'connected_gene': 'INTS5', 'score': 56.24}, {'connected_gene': 'LOC105369332', 'score': 55.45}, {'connected_gene': 'CPSF7', 'score': 55.26}, {'connected_gene': 'UBXN1', 'score': 55.05}, {'connected_gene': 'MTA2', 'score': 52.18}, {'connected_gene': 'TMEM138', 'score': 48.92}, {'connected_gene': 'WDR74', 'score': 44.47}, {'connected_gene': 'EML3', 'score': 44.15}, {'connected_gene': 'GANAB', 'score': 43.78}, {'connected_gene': 'STX5', 'score': 42.68}, {'connected_gene': 'CSKMT', 'score': 41.85}, {'connected_gene': 'VPS37C', 'score': 31.04}, {'connected_gene': 'SNHG1', 'score': 29.23}, {'connected_gene': 'TUT1', 'score': 29.15}, {'connected_gene': 'TMEM179B', 'score': 28.06}, {'connected_gene': 'RN7SL23P', 'score': 22.82}, {'connected_gene': 'BEST1', 'score': 22.63}, {'connected_gene': 'LRRN4CL', 'score': 17.76}, {'connected_gene': 'SDHAF2', 'score': 12.7}, {'connected_gene': 'RAB3IL1', 'score': 11.75}, {'connected_gene': 'EEF1G', 'score': 10.69}, {'connected_gene': 'TTC9C', 'score': 10.32}, {'connected_gene': 'FADS1', 'score': 4.08}, {'connected_gene': 'PIR56238', 'score': 0.77}, {'connected_gene': 'GC11M061964', 'score': 0.77}]

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