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
ENST00000278949 [[118097408, 118100635], [118104174, 118104238], [118106138, 118106304], [118107764, 118107975], [118110925, 118111092], [118122936, 118123065]] [[118100608, 118100635], [118104174, 118104238], [118106138, 118106304], [118107764, 118107975], [118110925, 118111092], [118122936, 118123009]]
ENST00000525386 [[118099852, 118100635], [118104174, 118104238], [118122936, 118123062]] [[118100574, 118100635], [118104174, 118104238], [118122936, 118123009]]
ENST00000527472 [[118099952, 118100635], [118104174, 118104238], [118106138, 118106304], [118107764, 118107975], [118110925, 118111056], [118122936, 118123062]] [[118100608, 118100635], [118104174, 118104238], [118106138, 118106304], [118107764, 118107975], [118110925, 118111056], [118122936, 118123009]]
ENST00000446386 [[118100168, 118100635], [118104174, 118104238], [118106138, 118106304], [118110925, 118111092], [118122936, 118123035]] [[118106217, 118106304], [118110925, 118111092], [118122936, 118123009]]
NM_198275 [[118097404, 118100635], [118104174, 118104238], [118106138, 118106304], [118107764, 118107975], [118110925, 118111092], [118122936, 118123083]] [[118100608, 118100635], [118104174, 118104238], [118106138, 118106304], [118107764, 118107975], [118110925, 118111092], [118122936, 118123009]]
NR_104405 [[118097404, 118100635], [118104174, 118104238], [118106138, 118106304], [118110925, 118111092], [118122936, 118123083]] None
NM_001286152 [[118097404, 118100635], [118104174, 118104238], [118106138, 118106304], [118107764, 118107975], [118110925, 118111056], [118122936, 118123083]] [[118100608, 118100635], [118104174, 118104238], [118106138, 118106304], [118107764, 118107975], [118110925, 118111056], [118122936, 118123009]]
NR_104404 [[118097404, 118100635], [118104174, 118104238], [118122936, 118123083]] None
Promoter
Chrom Start End Description
chr11 118107842 118107871 CAGE_peak_3_at_MPZL3_5end
chr11 118122996 118123090 CAGE_peak_1_at_MPZL3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I118309 118309617 118320584 1.68 [{'connected_gene': 'UBE4A', 'score': 25.69}, {'connected_gene': 'CD3G', 'score': 17.57}, {'connected_gene': 'CD3D', 'score': 17.01}, {'connected_gene': 'ARCN1', 'score': 16.58}, {'connected_gene': 'MPZL3', 'score': 15.02}, {'connected_gene': 'ENSG00000254909', 'score': 14.61}, {'connected_gene': 'KMT2A', 'score': 12.85}, {'connected_gene': 'RPL23AP64', 'score': 12.8}, {'connected_gene': 'DPAGT1', 'score': 12.72}, {'connected_gene': 'ENSG00000254428', 'score': 12.68}, {'connected_gene': 'BCL9L', 'score': 11.25}, {'connected_gene': 'CD3E', 'score': 10.8}, {'connected_gene': 'RPS25', 'score': 10.29}, {'connected_gene': 'ENSG00000255384', 'score': 10.14}, {'connected_gene': 'CCDC84', 'score': 10.03}, {'connected_gene': 'HMBS', 'score': 5.0}, {'connected_gene': 'ENSG00000271751', 'score': 4.84}, {'connected_gene': 'IFT46', 'score': 4.79}, {'connected_gene': 'DDX6', 'score': 1.86}, {'connected_gene': 'ENSG00000254992', 'score': 0.44}]
chr11 GH11I118303 118303186 118309022 1.42 [{'connected_gene': 'CD3E', 'score': 558.18}, {'connected_gene': 'ENSG00000254909', 'score': 16.14}, {'connected_gene': 'UBE4A', 'score': 15.56}, {'connected_gene': 'MPZL3', 'score': 14.89}, {'connected_gene': 'RPL23AP64', 'score': 14.47}, {'connected_gene': 'ENSG00000254428', 'score': 13.01}, {'connected_gene': 'ARCN1', 'score': 11.1}, {'connected_gene': 'CCDC84', 'score': 10.97}, {'connected_gene': 'BCL9L', 'score': 10.13}, {'connected_gene': 'ENSG00000271751', 'score': 4.51}, {'connected_gene': 'ENSG00000254992', 'score': 0.37}]
chr11 GH11I118283 118283729 118284121 0.38 [{'connected_gene': 'CD3E', 'score': 11.99}, {'connected_gene': 'CD3D', 'score': 11.57}, {'connected_gene': 'CD3G', 'score': 11.56}, {'connected_gene': 'KMT2A', 'score': 9.76}, {'connected_gene': 'ENSG00000255384', 'score': 9.76}, {'connected_gene': 'MPZL3', 'score': 7.56}, {'connected_gene': 'ENSG00000280032', 'score': 0.37}]
chr11 GH11I118273 118273059 118278398 1.43 [{'connected_gene': 'CD3E', 'score': 17.04}, {'connected_gene': 'MPZL3', 'score': 14.46}, {'connected_gene': 'SCN4B', 'score': 12.38}, {'connected_gene': 'CD3G', 'score': 11.91}, {'connected_gene': 'CD3D', 'score': 11.91}, {'connected_gene': 'UBE4A', 'score': 11.87}, {'connected_gene': 'ENSG00000271751', 'score': 5.08}, {'connected_gene': 'JAML', 'score': 4.4}, {'connected_gene': 'MPZL2', 'score': 2.29}, {'connected_gene': 'FXYD6', 'score': 1.2}, {'connected_gene': 'ENSG00000280032', 'score': 0.39}]
chr11 GH11I118045 118045018 118046915 0.92 [{'connected_gene': 'TMPRSS4', 'score': 17.71}, {'connected_gene': 'IL10RA', 'score': 13.64}, {'connected_gene': 'TMPRSS13', 'score': 10.83}, {'connected_gene': 'DSCAML1', 'score': 10.51}, {'connected_gene': 'ENSG00000254844', 'score': 10.51}, {'connected_gene': 'FXYD6-FXYD2', 'score': 10.4}, {'connected_gene': 'FXYD6', 'score': 10.4}, {'connected_gene': 'CD3G', 'score': 10.32}, {'connected_gene': 'CD3E', 'score': 10.04}, {'connected_gene': 'CD3D', 'score': 5.7}, {'connected_gene': 'MPZL3', 'score': 4.45}, {'connected_gene': 'KMT2A', 'score': 4.27}, {'connected_gene': 'UBE4A', 'score': 2.38}, {'connected_gene': 'GC11M118037', 'score': 0.77}, {'connected_gene': 'RN7SL828P', 'score': 0.34}, {'connected_gene': 'SMIM35', 'score': 0.26}]
chr11 GH11I118336 118336905 118346800 1.79 [{'connected_gene': 'CD3G', 'score': 550.77}, {'connected_gene': 'CD3D', 'score': 550.77}, {'connected_gene': 'LOC105369519', 'score': 8.49}, {'connected_gene': 'UBE4A', 'score': 7.05}, {'connected_gene': 'MPZL3', 'score': 5.27}, {'connected_gene': 'CD3E', 'score': 4.9}, {'connected_gene': 'TREHP1', 'score': 4.87}, {'connected_gene': 'IFT46', 'score': 4.48}, {'connected_gene': 'ENSG00000254992', 'score': 0.37}]
chr11 GH11I117997 117997315 118014816 1.75 [{'connected_gene': 'IL10RA', 'score': 30.08}, {'connected_gene': 'ENSG00000254528', 'score': 15.5}, {'connected_gene': 'ARCN1', 'score': 13.3}, {'connected_gene': 'RNF214', 'score': 12.97}, {'connected_gene': 'KMT2A', 'score': 12.55}, {'connected_gene': 'ENSG00000254909', 'score': 12.19}, {'connected_gene': 'UBE4A', 'score': 12.12}, {'connected_gene': 'RPL5P30', 'score': 11.19}, {'connected_gene': 'FXYD2', 'score': 11.07}, {'connected_gene': 'TMPRSS13', 'score': 10.99}, {'connected_gene': 'RPL23AP64', 'score': 10.92}, {'connected_gene': 'BCL9L', 'score': 10.55}, {'connected_gene': 'TMPRSS4', 'score': 10.2}, {'connected_gene': 'FXYD6-FXYD2', 'score': 9.93}, {'connected_gene': 'FXYD6', 'score': 9.93}, {'connected_gene': 'RPS27P19', 'score': 9.72}, {'connected_gene': 'JAML', 'score': 6.88}, {'connected_gene': 'CD3E', 'score': 2.42}, {'connected_gene': 'CD3G', 'score': 2.23}, {'connected_gene': 'MPZL3', 'score': 2.1}, {'connected_gene': 'CD3D', 'score': 1.7}, {'connected_gene': 'ATP5MG', 'score': 1.27}, {'connected_gene': 'GC11P118003', 'score': 0.77}, {'connected_gene': 'GC11P118028', 'score': 0.34}, {'connected_gene': 'SMIM35', 'score': 0.18}]
chr11 GH11I118243 118243867 118244892 0.38 [{'connected_gene': 'MPZL3', 'score': 21.99}, {'connected_gene': 'CD3E', 'score': 10.57}, {'connected_gene': 'CD3D', 'score': 10.43}, {'connected_gene': 'CD3G', 'score': 10.43}, {'connected_gene': 'MPZL2', 'score': 5.38}, {'connected_gene': 'GC11M118231', 'score': 0.37}, {'connected_gene': 'PIR54688', 'score': 0.37}]
chr11 GH11I118295 118295486 118296534 0.86 [{'connected_gene': 'MPZL3', 'score': 12.82}, {'connected_gene': 'CD3E', 'score': 0.44}, {'connected_gene': 'ENSG00000280032', 'score': 0.29}]
chr11 GH11I118290 118290919 118292372 1.27 [{'connected_gene': 'MPZL3', 'score': 14.34}, {'connected_gene': 'ENSG00000271751', 'score': 5.34}, {'connected_gene': 'CD3E', 'score': 0.39}, {'connected_gene': 'ENSG00000280032', 'score': 0.31}]
chr11 GH11I118250 118250801 118253403 2.03 [{'connected_gene': 'MPZL3', 'score': 571.32}, {'connected_gene': 'VPS11', 'score': 12.48}, {'connected_gene': 'HINFP', 'score': 11.21}, {'connected_gene': 'MPZL2', 'score': 5.44}, {'connected_gene': 'BACE1', 'score': 4.9}, {'connected_gene': 'GC11M118231', 'score': 0.34}, {'connected_gene': 'PIR54688', 'score': 0.34}]
chr11 GH11I118204 118204939 118207599 0.94 [{'connected_gene': 'MPZL3', 'score': 16.51}, {'connected_gene': 'JAML', 'score': 13.86}, {'connected_gene': 'CD3G', 'score': 12.0}, {'connected_gene': 'CD3D', 'score': 12.0}, {'connected_gene': 'CD3E', 'score': 11.12}, {'connected_gene': 'IFT46', 'score': 4.21}, {'connected_gene': 'HSPE1P18', 'score': 0.77}, {'connected_gene': 'GC11M118201', 'score': 0.39}, {'connected_gene': 'SCN2B', 'score': 0.31}]
chr11 GH11I118219 118219426 118220952 0.63 [{'connected_gene': 'MPZL3', 'score': 21.25}, {'connected_gene': 'MPZL2', 'score': 4.84}, {'connected_gene': 'JAML', 'score': 0.77}, {'connected_gene': 'GC11M118201', 'score': 0.77}]
chr11 GH11I118231 118231610 118233916 0.46 [{'connected_gene': 'MPZL3', 'score': 21.34}, {'connected_gene': 'MPZL2', 'score': 5.41}, {'connected_gene': 'GC11M118231', 'score': 0.77}, {'connected_gene': 'PIR54688', 'score': 0.77}]
chr11 GH11I118247 118247246 118247335 0.9 [{'connected_gene': 'MPZL3', 'score': 0.44}, {'connected_gene': 'GC11M118231', 'score': 0.37}, {'connected_gene': 'PIR54688', 'score': 0.37}]
chr11 GH11I118248 118248521 118250002 0.2 [{'connected_gene': 'MPZL3', 'score': 21.37}, {'connected_gene': 'GC11M118231', 'score': 0.37}, {'connected_gene': 'PIR54688', 'score': 0.37}]
chr11 GH11I118238 118238001 118243121 1.75 [{'connected_gene': 'JAML', 'score': 32.31}, {'connected_gene': 'MPZL3', 'score': 25.47}, {'connected_gene': 'ENSG00000254909', 'score': 18.17}, {'connected_gene': 'UBE4A', 'score': 17.71}, {'connected_gene': 'BCL9L', 'score': 17.45}, {'connected_gene': 'ARCN1', 'score': 16.84}, {'connected_gene': 'RPL23AP64', 'score': 16.72}, {'connected_gene': 'ENSG00000254428', 'score': 14.43}, {'connected_gene': 'DPAGT1', 'score': 13.38}, {'connected_gene': 'CD3E', 'score': 12.95}, {'connected_gene': 'IL10RA', 'score': 12.5}, {'connected_gene': 'RPS25', 'score': 10.88}, {'connected_gene': 'DDX6', 'score': 9.85}, {'connected_gene': 'SCN2B', 'score': 9.53}, {'connected_gene': 'MPZL2', 'score': 5.5}, {'connected_gene': 'CD3G', 'score': 2.35}, {'connected_gene': 'CD3D', 'score': 1.66}, {'connected_gene': 'PIR54688', 'score': 0.39}, {'connected_gene': 'GC11M118231', 'score': 0.39}]
chr11 GH11I118245 118245121 118246031 0.6 [{'connected_gene': 'JAML', 'score': 16.07}, {'connected_gene': 'MPZL3', 'score': 15.81}, {'connected_gene': 'CD3E', 'score': 10.58}, {'connected_gene': 'CD3G', 'score': 10.34}, {'connected_gene': 'CD3D', 'score': 10.34}, {'connected_gene': 'MPZL2', 'score': 5.41}, {'connected_gene': 'GC11M118231', 'score': 0.37}, {'connected_gene': 'PIR54688', 'score': 0.37}]
chr11 GH11I118210 118210367 118218400 1.87 [{'connected_gene': 'JAML', 'score': 565.86}, {'connected_gene': 'MPZL3', 'score': 17.79}, {'connected_gene': 'CD3D', 'score': 12.01}, {'connected_gene': 'CD3G', 'score': 12.01}, {'connected_gene': 'CD3E', 'score': 11.12}, {'connected_gene': 'MPZL2', 'score': 5.45}, {'connected_gene': 'GC11M118201', 'score': 0.77}, {'connected_gene': 'HSPE1P18', 'score': 0.44}]
chr11 GH11I118223 118223109 118230397 2.03 [{'connected_gene': 'JAML', 'score': 550.77}, {'connected_gene': 'PIR47429', 'score': 550.77}, {'connected_gene': 'MPZL3', 'score': 21.45}, {'connected_gene': 'SCN2B', 'score': 9.85}, {'connected_gene': 'MPZL2', 'score': 5.37}, {'connected_gene': 'GC11M118231', 'score': 0.77}, {'connected_gene': 'GC11M118234', 'score': 0.77}, {'connected_gene': 'PIR54688', 'score': 0.77}]
chr11 GH11I118200 118200481 118204187 1.11 [{'connected_gene': 'JAML', 'score': 17.61}, {'connected_gene': 'MPZL3', 'score': 15.37}, {'connected_gene': 'MPZL2', 'score': 6.28}, {'connected_gene': 'TRAPPC4', 'score': 4.36}, {'connected_gene': 'HSPE1P18', 'score': 0.44}, {'connected_gene': 'GC11M118201', 'score': 0.39}, {'connected_gene': 'SCN2B', 'score': 0.31}]
chr11 GH11I118194 118194010 118196137 1.58 [{'connected_gene': 'JAML', 'score': 12.84}, {'connected_gene': 'MPZL3', 'score': 12.65}, {'connected_gene': 'MPZL2', 'score': 5.24}, {'connected_gene': 'HSPE1P18', 'score': 0.39}, {'connected_gene': 'SCN2B', 'score': 0.37}]
chr11 GH11I118699 118699100 118701138 1.15 [{'connected_gene': 'LOC105369519', 'score': 42.95}, {'connected_gene': 'IFT46', 'score': 22.96}, {'connected_gene': 'FXYD6', 'score': 11.57}, {'connected_gene': 'ENSG00000272186', 'score': 10.76}, {'connected_gene': 'TMEM25', 'score': 10.48}, {'connected_gene': 'CD3E', 'score': 8.63}, {'connected_gene': 'CD3G', 'score': 7.53}, {'connected_gene': 'CCDC84', 'score': 5.29}, {'connected_gene': 'KMT2A', 'score': 5.27}, {'connected_gene': 'MPZL3', 'score': 4.29}, {'connected_gene': 'CD3D', 'score': 3.96}, {'connected_gene': 'DDX6', 'score': 3.89}, {'connected_gene': 'VPS11', 'score': 3.65}, {'connected_gene': 'RPS25', 'score': 2.6}, {'connected_gene': 'UBE4A', 'score': 2.27}, {'connected_gene': 'GC11P118703', 'score': 0.77}]
chr11 GH11I118263 118262560 118267328 2.26 [{'connected_gene': 'MPZL2', 'score': 550.77}, {'connected_gene': 'ENSG00000280032', 'score': 550.77}, {'connected_gene': 'MPZL3', 'score': 18.38}, {'connected_gene': 'ENSG00000271751', 'score': 5.21}, {'connected_gene': 'CD3E', 'score': 4.83}]
chr11 GH11I118262 118262156 118262450 0.2 [{'connected_gene': 'MPZL2', 'score': 0.77}, {'connected_gene': 'MPZL3', 'score': 0.44}]
chr11 GH11I117949 117949086 117954497 1.49 [{'connected_gene': 'GC11P117950', 'score': 550.77}, {'connected_gene': 'IL10RA', 'score': 19.37}, {'connected_gene': 'TMPRSS13', 'score': 16.59}, {'connected_gene': 'CD3E', 'score': 12.3}, {'connected_gene': 'CD3G', 'score': 11.69}, {'connected_gene': 'DSCAML1', 'score': 11.49}, {'connected_gene': 'ENSG00000254844', 'score': 11.49}, {'connected_gene': 'FXYD6-FXYD2', 'score': 11.05}, {'connected_gene': 'FXYD6', 'score': 11.05}, {'connected_gene': 'ENSG00000254528', 'score': 10.97}, {'connected_gene': 'FXYD2', 'score': 10.97}, {'connected_gene': 'CD3D', 'score': 7.46}, {'connected_gene': 'MPZL3', 'score': 5.72}, {'connected_gene': 'KMT2A', 'score': 4.68}, {'connected_gene': 'UBE4A', 'score': 2.82}, {'connected_gene': 'JAML', 'score': 1.14}]

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