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
ENST00000257261 [[61583727, 61583898], [61605249, 61605360], [61607805, 61608003], [61608095, 61608197], [61615630, 61615756], [61624482, 61624543], [61624925, 61625002], [61630443, 61630541], [61630753, 61630850], [61631178, 61631258], [61632623, 61632749], [61633109, 61634826]] [[61583757, 61583898], [61605249, 61605360], [61607805, 61608003], [61608095, 61608197], [61615630, 61615756], [61624482, 61624543], [61624925, 61625002], [61630443, 61630541], [61630753, 61630850], [61631178, 61631258], [61632623, 61632749], [61633109, 61633161]]
ENST00000522056 [[61583875, 61584168], [61605249, 61605360], [61607805, 61608003], [61608095, 61608197], [61615630, 61615756], [61624482, 61624543], [61624925, 61625002], [61630443, 61630541], [61630753, 61630850], [61631178, 61631258], [61632623, 61632749], [61633109, 61633429]] [[61584054, 61584168], [61605249, 61605360], [61607805, 61608003], [61608095, 61608197], [61615630, 61615756], [61624482, 61624543], [61624925, 61625002], [61630443, 61630541], [61630753, 61630850], [61631178, 61631258], [61632623, 61632749], [61633109, 61633161]]
ENST00000518606 [[61594863, 61594903], [61605249, 61605360], [61607805, 61608003], [61608095, 61608197], [61615630, 61615689]] [[61607853, 61608003], [61608095, 61608197], [61615630, 61615689]]
ENST00000278840 [[61595232, 61596069], [61605249, 61605360], [61607805, 61608003], [61608095, 61608197], [61615630, 61615756], [61624482, 61624543], [61624925, 61625002], [61630443, 61630541], [61630753, 61630850], [61631178, 61631258], [61632623, 61632749], [61633109, 61634826]] [[61595862, 61596069], [61605249, 61605360], [61607805, 61608003], [61608095, 61608197], [61615630, 61615756], [61624482, 61624543], [61624925, 61625002], [61630443, 61630541], [61630753, 61630850], [61631178, 61631258], [61632623, 61632749], [61633109, 61633161]]
ENST00000517312 [[61595650, 61595696], [61595966, 61596069], [61605249, 61605360], [61607805, 61608003], [61608095, 61608197], [61615630, 61615658]] [[61607853, 61608003], [61608095, 61608197], [61615630, 61615658]]
ENST00000521849 [[61595751, 61596069], [61605249, 61605360], [61607805, 61608003], [61608095, 61608197], [61615630, 61615756], [61624482, 61624543], [61624925, 61625002], [61630443, 61630541], [61630753, 61630850], [61631178, 61631693]] [[61595862, 61596069], [61605249, 61605360], [61607805, 61608003], [61608095, 61608197], [61615630, 61615756], [61624482, 61624543], [61624925, 61625002], [61630443, 61630541], [61630753, 61630850], [61631178, 61631262]]
ENST00000574708 [[61560451, 61560500], [61593503, 61593609], [61593754, 61593984]] [[61593557, 61593609], [61593754, 61593870]]
ENST00000522639 [[61583874, 61583898], [61593503, 61593609], [61593754, 61593984]] [[61593557, 61593609], [61593754, 61593870]]
ENST00000517839 [[61584017, 61584168], [61588852, 61588940], [61593754, 61593984]] [[61584054, 61584168], [61588852, 61588897]]
ENST00000521571 [[61607768, 61608197], [61615630, 61615756], [61624482, 61624543], [61624925, 61625002], [61630443, 61630549]] [[61615714, 61615756], [61624482, 61624543], [61624925, 61625002], [61630443, 61630549]]
ENST00000520145 [[61608113, 61608197], [61615292, 61615636]] None
ENST00000355484 [[61614062, 61615756], [61624482, 61624543], [61624925, 61625002], [61630443, 61630541], [61630753, 61630850], [61631178, 61631258]] [[61615714, 61615756], [61624482, 61624543], [61624925, 61625002], [61630443, 61630541], [61630753, 61630850], [61631178, 61631258]]
ENST00000543584 [[61615635, 61615756], [61616152, 61616333], [61617220, 61617272]] None
ENST00000523235 [[61621658, 61624543], [61624925, 61625002], [61630443, 61630541], [61630753, 61630850], [61631178, 61631258], [61632623, 61632749], [61633109, 61634819]] None
ENST00000522359 [[61629444, 61630850], [61631178, 61631258], [61632623, 61632791]] None
NM_001281501 [[61583674, 61583898], [61605249, 61605360], [61607805, 61608003], [61608095, 61608197], [61615630, 61615756], [61624482, 61624543], [61624925, 61625002], [61630443, 61630541], [61630753, 61630850], [61631178, 61631258], [61632623, 61632749], [61633109, 61634826]] [[61583757, 61583898], [61605249, 61605360], [61607805, 61608003], [61608095, 61608197], [61615630, 61615756], [61624482, 61624543], [61624925, 61625002], [61630443, 61630541], [61630753, 61630850], [61631178, 61631258], [61632623, 61632749], [61633109, 61633161]]
NM_001281502 [[61583875, 61584168], [61605249, 61605360], [61607805, 61608003], [61608095, 61608197], [61615630, 61615756], [61624482, 61624543], [61624925, 61625002], [61630443, 61630541], [61630753, 61630850], [61631178, 61631258], [61632623, 61632749], [61633109, 61634826]] [[61584054, 61584168], [61605249, 61605360], [61607805, 61608003], [61608095, 61608197], [61615630, 61615756], [61624482, 61624543], [61624925, 61625002], [61630443, 61630541], [61630753, 61630850], [61631178, 61631258], [61632623, 61632749], [61633109, 61633161]]
NM_004265 [[61595504, 61596069], [61605249, 61605360], [61607805, 61608003], [61608095, 61608197], [61615630, 61615756], [61624482, 61624543], [61624925, 61625002], [61630443, 61630541], [61630753, 61630850], [61631178, 61631258], [61632623, 61632749], [61633109, 61634826]] [[61595862, 61596069], [61605249, 61605360], [61607805, 61608003], [61608095, 61608197], [61615630, 61615756], [61624482, 61624543], [61624925, 61625002], [61630443, 61630541], [61630753, 61630850], [61631178, 61631258], [61632623, 61632749], [61633109, 61633161]]
Promoter
Chrom Start End Description
chr11 61583669 61583686 CAGE_peak_7_at_FADS2_5end
chr11 61583721 61583756 CAGE_peak_4_at_FADS2_5end
chr11 61583772 61583837 CAGE_peak_2_at_FADS2_5end
chr11 61583926 61583940 CAGE_peak_11_at_FADS2_5end
chr11 61583968 61584057 CAGE_peak_5_at_FADS2_5end
chr11 61595533 61595544 CAGE_peak_6_at_FADS2_5end
chr11 61595572 61595584 CAGE_peak_3_at_FADS2_5end
chr11 61595761 61595780 CAGE_peak_1_at_FADS2_5end
chr11 61615643 61615659 CAGE_peak_19_at_FADS2_5end
chr11 61624925 61624946 CAGE_peak_10_at_FADS2_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 GH11I061787 61787935 61788858 0.87 [{'connected_gene': 'FADS2', 'score': 68.56}, {'connected_gene': 'CPSF7', 'score': 17.89}, {'connected_gene': 'TUT1', 'score': 14.62}, {'connected_gene': 'CSKMT', 'score': 14.5}, {'connected_gene': 'TMEM138', 'score': 13.14}, {'connected_gene': 'RN7SL23P', 'score': 12.94}, {'connected_gene': 'MTA2', 'score': 12.69}, {'connected_gene': 'INTS5', 'score': 12.42}, {'connected_gene': 'GANAB', 'score': 11.96}, {'connected_gene': 'TAF6L', 'score': 11.48}, {'connected_gene': 'EML3', 'score': 10.54}, {'connected_gene': 'TMEM258', 'score': 0.77}, {'connected_gene': 'MIR611', 'score': 0.77}, {'connected_gene': 'GC11P061758', 'score': 0.31}, {'connected_gene': 'MYRF', 'score': 0.28}]
chr11 GH11I061783 61783375 61784980 0.2 [{'connected_gene': 'FADS2', 'score': 28.89}, {'connected_gene': 'TMEM258', 'score': 0.44}, {'connected_gene': 'MIR611', 'score': 0.44}, {'connected_gene': 'GC11P061758', 'score': 0.31}, {'connected_gene': 'MYRF', 'score': 0.29}]
chr11 GH11I061774 61774691 61778027 1.19 [{'connected_gene': 'FADS2', 'score': 23.31}, {'connected_gene': 'TMEM258', 'score': 0.37}, {'connected_gene': 'GC11P061758', 'score': 0.37}, {'connected_gene': 'MIR611', 'score': 0.37}, {'connected_gene': 'MYRF', 'score': 0.34}]
chr11 GH11I061778 61778407 61779395 0.43 [{'connected_gene': 'FADS2', 'score': 25.12}, {'connected_gene': 'TMEM258', 'score': 0.39}, {'connected_gene': 'MIR611', 'score': 0.39}, {'connected_gene': 'GC11P061758', 'score': 0.34}, {'connected_gene': 'MYRF', 'score': 0.31}]
chr11 GH11I061779 61779746 61781277 0.31 [{'connected_gene': 'FADS2', 'score': 28.56}, {'connected_gene': 'TMEM258', 'score': 0.39}, {'connected_gene': 'MIR611', 'score': 0.39}, {'connected_gene': 'GC11P061758', 'score': 0.34}, {'connected_gene': 'MYRF', 'score': 0.31}]
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 GH11I061762 61762966 61773948 1.33 [{'connected_gene': 'FADS2', 'score': 18.36}, {'connected_gene': 'BEST1', 'score': 10.22}, {'connected_gene': 'MYRF', 'score': 5.07}, {'connected_gene': 'GC11P061758', 'score': 0.44}, {'connected_gene': 'TMEM258', 'score': 0.34}, {'connected_gene': 'MIR611', 'score': 0.34}]
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 GH11I061845 61845274 61846783 0.66 [{'connected_gene': 'FADS2', 'score': 48.49}, {'connected_gene': 'FADS3', 'score': 12.41}, {'connected_gene': 'RAB3IL1', 'score': 11.76}, {'connected_gene': 'POLR2G', 'score': 4.94}, {'connected_gene': 'FADS1', 'score': 0.37}, {'connected_gene': 'MIR6746', 'score': 0.29}]
chr11 GH11I061841 61841503 61843112 1.16 [{'connected_gene': 'FADS2', 'score': 31.67}, {'connected_gene': 'FADS3', 'score': 12.6}, {'connected_gene': 'FADS1', 'score': 5.32}, {'connected_gene': 'POLR2G', 'score': 4.88}, {'connected_gene': 'EML3', 'score': 4.4}, {'connected_gene': 'MIR6746', 'score': 0.28}]
chr11 GH11I061850 61850653 61852418 0.49 [{'connected_gene': 'FADS2', 'score': 66.87}, {'connected_gene': 'FADS1', 'score': 12.33}, {'connected_gene': 'FADS3', 'score': 12.25}, {'connected_gene': 'RAB3IL1', 'score': 11.42}, {'connected_gene': 'DKFZP434K028', 'score': 10.78}, {'connected_gene': 'MYRF', 'score': 10.77}, {'connected_gene': 'INCENP', 'score': 10.76}, {'connected_gene': 'BEST1', 'score': 10.74}, {'connected_gene': 'POLR2G', 'score': 4.81}, {'connected_gene': 'MIR6746', 'score': 0.31}]
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 GH11I061860 61860022 61860802 0.74 [{'connected_gene': 'FADS2', 'score': 21.55}, {'connected_gene': 'INCENP', 'score': 5.91}, {'connected_gene': 'MIR6746', 'score': 0.37}, {'connected_gene': 'FADS1', 'score': 0.29}]
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 GH11I061873 61873949 61874098 0.4 [{'connected_gene': 'FADS2', 'score': 10.54}, {'connected_gene': 'MIR6746', 'score': 0.77}, {'connected_gene': 'FADS3', 'score': 0.37}, {'connected_gene': 'FADS1', 'score': 0.26}]
chr11 GH11I061813 61813981 61818435 2.29 [{'connected_gene': 'FADS2', 'score': 587.5}, {'connected_gene': 'MIR1908', 'score': 550.77}, {'connected_gene': 'FADS1', 'score': 550.39}, {'connected_gene': 'BEST1', 'score': 10.51}, {'connected_gene': 'EML3', 'score': 4.41}, {'connected_gene': 'PIR43939', 'score': 0.39}]
chr11 GH11I061801 61801180 61803428 0.63 [{'connected_gene': 'FADS2', 'score': 28.89}, {'connected_gene': 'MIR1908', 'score': 0.39}, {'connected_gene': 'FADS1', 'score': 0.31}, {'connected_gene': 'GC11P061758', 'score': 0.26}]
chr11 GH11I061799 61799148 61801084 0.93 [{'connected_gene': 'FADS2', 'score': 30.35}, {'connected_gene': 'MIR1908', 'score': 0.37}, {'connected_gene': 'FADS1', 'score': 0.31}, {'connected_gene': 'GC11P061758', 'score': 0.26}]
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 GH11I061812 61812849 61812958 0.58 [{'connected_gene': 'BEST1', 'score': 10.51}, {'connected_gene': 'MIR1908', 'score': 0.77}, {'connected_gene': 'FADS2', 'score': 0.37}, {'connected_gene': 'FADS1', 'score': 0.37}]
chr11 GH11I062479 62479216 62482296 1.13 [{'connected_gene': 'SCGB1A1', 'score': 11.31}, {'connected_gene': 'ENSG00000255126', 'score': 11.29}, {'connected_gene': 'ASRGL1', 'score': 11.23}, {'connected_gene': 'LOC102723765', 'score': 11.03}, {'connected_gene': 'AHNAK', 'score': 10.82}, {'connected_gene': 'EEF1G', 'score': 10.03}, {'connected_gene': 'ENSG00000255508', 'score': 10.0}, {'connected_gene': 'TUT1', 'score': 10.0}, {'connected_gene': 'FADS2', 'score': 4.49}, {'connected_gene': 'LBHD1', 'score': 4.39}, {'connected_gene': 'MTA2', 'score': 4.26}, {'connected_gene': 'GC11P062515', 'score': 0.28}]
chr11 GH11I061885 61885471 61893015 2.37 [{'connected_gene': 'FADS3', 'score': 550.77}, {'connected_gene': 'BEST1', 'score': 11.65}, {'connected_gene': 'RAB3IL1', 'score': 11.56}, {'connected_gene': 'FADS2', 'score': 11.33}, {'connected_gene': 'MIR6746', 'score': 0.39}]
chr11 GH11I061904 61904266 61905689 0.89 [{'connected_gene': 'FADS1', 'score': 17.28}, {'connected_gene': 'BEST1', 'score': 12.01}, {'connected_gene': 'FADS2', 'score': 7.13}, {'connected_gene': 'FADS3', 'score': 5.57}, {'connected_gene': 'PIR40157', 'score': 0.77}, {'connected_gene': 'RAB3IL1', 'score': 0.26}]
chr11 GH11I062112 62112201 62113218 1.06 [{'connected_gene': 'INCENP', 'score': 18.5}, {'connected_gene': 'FADS3', 'score': 2.95}, {'connected_gene': 'FADS2', 'score': 1.95}, {'connected_gene': 'RAB3IL1', 'score': 1.28}, {'connected_gene': 'GC11M062088', 'score': 0.34}]
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}]

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