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
ENST00000257829 [[34127148, 34127339], [34129757, 34129880], [34130288, 34130380], [34133598, 34133770], [34135262, 34135385], [34137369, 34137431], [34139726, 34139841], [34139942, 34140050], [34144005, 34144139], [34145308, 34145402], [34145848, 34145947], [34149009, 34149146], [34152359, 34152484], [34152927, 34153078], [34153671, 34153768], [34154572, 34154689], [34155865, 34155967], [34156058, 34156133], [34156721, 34156838], [34158188, 34158322], [34158524, 34158573], [34160737, 34160834], [34160931, 34161042], [34161946, 34162119], [34162635, 34162755], [34163265, 34163364], [34163821, 34163895], [34164991, 34165075], [34167630, 34168457]] [[34129772, 34129880], [34130288, 34130380], [34133598, 34133770], [34135262, 34135385], [34137369, 34137431], [34139726, 34139841], [34139942, 34140050], [34144005, 34144139], [34145308, 34145402], [34145848, 34145947], [34149009, 34149146], [34152359, 34152484], [34152927, 34153078], [34153671, 34153768], [34154572, 34154689], [34155865, 34155967], [34156058, 34156133], [34156721, 34156838], [34158188, 34158322], [34158524, 34158573], [34160737, 34160834], [34160931, 34161042], [34161946, 34162119], [34162635, 34162755], [34163265, 34163364], [34163821, 34163895], [34164991, 34165075], [34167630, 34167739]]
ENST00000532503 [[34127163, 34127339], [34128599, 34128866], [34129757, 34129870]] None
ENST00000531159 [[34127163, 34127339], [34133598, 34133770], [34135262, 34135385], [34137369, 34137431], [34139726, 34139841], [34139942, 34140050], [34144005, 34144139], [34145308, 34145402], [34145848, 34145947], [34149009, 34149146], [34152359, 34152484], [34152927, 34153078], [34153671, 34153768], [34154572, 34154689], [34155865, 34155967], [34156058, 34156133], [34156721, 34156838], [34158188, 34158322], [34158524, 34158573], [34160737, 34160834], [34160931, 34161042], [34161946, 34162119], [34162635, 34162755], [34163265, 34163364], [34163821, 34163895], [34164991, 34165075], [34167630, 34168121]] [[34133614, 34133770], [34135262, 34135385], [34137369, 34137431], [34139726, 34139841], [34139942, 34140050], [34144005, 34144139], [34145308, 34145402], [34145848, 34145947], [34149009, 34149146], [34152359, 34152484], [34152927, 34153078], [34153671, 34153768], [34154572, 34154689], [34155865, 34155967], [34156058, 34156133], [34156721, 34156838], [34158188, 34158322], [34158524, 34158573], [34160737, 34160834], [34160931, 34161042], [34161946, 34162119], [34162635, 34162755], [34163265, 34163364], [34163821, 34163895], [34164991, 34165075], [34167630, 34167739]]
ENST00000531723 [[34127575, 34127621], [34128599, 34128866], [34129757, 34129880], [34130288, 34130380]] None
ENST00000529523 [[34127585, 34127694], [34129757, 34129880], [34130288, 34130380], [34133598, 34133770], [34135262, 34135327]] [[34129772, 34129880], [34130288, 34130380], [34133598, 34133770], [34135262, 34135327]]
ENST00000527971 [[34129755, 34129880], [34130288, 34130380], [34133598, 34133770], [34135262, 34135385], [34137369, 34137431], [34139726, 34139841], [34139942, 34140050], [34167652, 34168455]] [[34129772, 34129880], [34130288, 34130380], [34133598, 34133770], [34135262, 34135385], [34137369, 34137431], [34139726, 34139841], [34139942, 34140050], [34167652, 34167739]]
ENST00000530017 [[34160418, 34160834], [34160931, 34161058]] None
ENST00000532555 [[34163533, 34163895], [34164991, 34165075], [34167630, 34167799]] None
ENST00000534509 [[34168266, 34168558], [34169089, 34169217]] None
NM_001144030 [[34127110, 34127339], [34133598, 34133770], [34135262, 34135385], [34137369, 34137431], [34139726, 34139841], [34139942, 34140050], [34144005, 34144139], [34145308, 34145402], [34145848, 34145947], [34149009, 34149146], [34152359, 34152484], [34152927, 34153078], [34153671, 34153768], [34154572, 34154689], [34155865, 34155967], [34156058, 34156133], [34156721, 34156838], [34158188, 34158322], [34158524, 34158573], [34160737, 34160834], [34160931, 34161042], [34161946, 34162119], [34162635, 34162755], [34163265, 34163364], [34163821, 34163895], [34164991, 34165075], [34167630, 34168458]] [[34133614, 34133770], [34135262, 34135385], [34137369, 34137431], [34139726, 34139841], [34139942, 34140050], [34144005, 34144139], [34145308, 34145402], [34145848, 34145947], [34149009, 34149146], [34152359, 34152484], [34152927, 34153078], [34153671, 34153768], [34154572, 34154689], [34155865, 34155967], [34156058, 34156133], [34156721, 34156838], [34158188, 34158322], [34158524, 34158573], [34160737, 34160834], [34160931, 34161042], [34161946, 34162119], [34162635, 34162755], [34163265, 34163364], [34163821, 34163895], [34164991, 34165075], [34167630, 34167739]]
NM_024662 [[34127110, 34127339], [34129757, 34129880], [34130288, 34130380], [34133598, 34133770], [34135262, 34135385], [34137369, 34137431], [34139726, 34139841], [34139942, 34140050], [34144005, 34144139], [34145308, 34145402], [34145848, 34145947], [34149009, 34149146], [34152359, 34152484], [34152927, 34153078], [34153671, 34153768], [34154572, 34154689], [34155865, 34155967], [34156058, 34156133], [34156721, 34156838], [34158188, 34158322], [34158524, 34158573], [34160737, 34160834], [34160931, 34161042], [34161946, 34162119], [34162635, 34162755], [34163265, 34163364], [34163821, 34163895], [34164991, 34165075], [34167630, 34168458]] [[34129772, 34129880], [34130288, 34130380], [34133598, 34133770], [34135262, 34135385], [34137369, 34137431], [34139726, 34139841], [34139942, 34140050], [34144005, 34144139], [34145308, 34145402], [34145848, 34145947], [34149009, 34149146], [34152359, 34152484], [34152927, 34153078], [34153671, 34153768], [34154572, 34154689], [34155865, 34155967], [34156058, 34156133], [34156721, 34156838], [34158188, 34158322], [34158524, 34158573], [34160737, 34160834], [34160931, 34161042], [34161946, 34162119], [34162635, 34162755], [34163265, 34163364], [34163821, 34163895], [34164991, 34165075], [34167630, 34167739]]
Promoter
Chrom Start End Description
chr11 34127129 34127140 CAGE_peak_4_at_NAT10_5end
chr11 34127142 34127189 CAGE_peak_1_at_NAT10_5end
chr11 34127201 34127254 CAGE_peak_2_at_NAT10_5end
chr11 34127258 34127271 CAGE_peak_3_at_NAT10_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I033687 33687347 33698676 1.72 [{'connected_gene': 'CD59', 'score': 25.29}, {'connected_gene': 'KIAA1549L', 'score': 16.22}, {'connected_gene': 'NAT10', 'score': 11.65}, {'connected_gene': 'LOC105376617', 'score': 7.13}, {'connected_gene': 'FBXO3', 'score': 4.89}, {'connected_gene': 'FBXO3-AS1', 'score': 4.5}, {'connected_gene': 'C11orf91', 'score': 0.44}, {'connected_gene': 'PIR36412', 'score': 0.37}]
chr11 GH11I033731 33731287 33738945 2.24 [{'connected_gene': 'CD59', 'score': 573.17}, {'connected_gene': 'LOC105376617', 'score': 16.56}, {'connected_gene': 'FBXO3-AS1', 'score': 11.42}, {'connected_gene': 'KIAA1549L', 'score': 10.96}, {'connected_gene': 'NAT10', 'score': 10.88}, {'connected_gene': 'FBXO3', 'score': 10.75}, {'connected_gene': 'ENSG00000255272', 'score': 10.73}, {'connected_gene': 'ENSG00000254619', 'score': 6.36}, {'connected_gene': 'GC11P033706', 'score': 0.31}, {'connected_gene': 'GC11M033731', 'score': 0.1}]
chr11 GH11I035035 35035302 35042087 1.66 [{'connected_gene': 'CD44', 'score': 22.14}, {'connected_gene': 'NAT10', 'score': 12.2}, {'connected_gene': 'LOC100507144', 'score': 11.6}, {'connected_gene': 'APIP', 'score': 4.31}, {'connected_gene': 'GC11M035023', 'score': 0.39}, {'connected_gene': 'LOC105376626', 'score': 0.31}]
chr11 GH11I033475 33475857 33476724 0.72 [{'connected_gene': 'QSER1', 'score': 36.63}, {'connected_gene': 'HNRNPA3P9', 'score': 22.81}, {'connected_gene': 'NAT10', 'score': 14.02}, {'connected_gene': 'FBXO3', 'score': 12.57}, {'connected_gene': 'CSTF3', 'score': 11.86}, {'connected_gene': 'CAPRIN1', 'score': 10.77}, {'connected_gene': 'KIAA1549L', 'score': 10.23}, {'connected_gene': 'ENSG00000255207', 'score': 0.31}, {'connected_gene': 'GC11P033533', 'score': 0.22}]
chr11 GH11I035029 35029515 35034438 1.7 [{'connected_gene': 'NAT10', 'score': 12.45}, {'connected_gene': 'CD44', 'score': 11.2}, {'connected_gene': 'APIP', 'score': 4.48}, {'connected_gene': 'GC11M035023', 'score': 0.44}, {'connected_gene': 'LOC105376626', 'score': 0.28}]
chr11 GH11I033265 33265602 33267599 1.21 [{'connected_gene': 'NAT10', 'score': 20.18}, {'connected_gene': 'QSER1', 'score': 15.51}, {'connected_gene': 'EIF3M', 'score': 11.01}, {'connected_gene': 'CAPRIN1', 'score': 10.74}, {'connected_gene': 'HIPK3', 'score': 0.44}, {'connected_gene': 'GC11P033247', 'score': 0.37}, {'connected_gene': 'KIAA1549L', 'score': 0.14}]
chr11 GH11I034103 34103800 34107038 2.54 [{'connected_gene': 'NAT10', 'score': 597.89}, {'connected_gene': 'CAPRIN1', 'score': 37.22}, {'connected_gene': 'ABTB2', 'score': 10.4}, {'connected_gene': 'RPS24P15', 'score': 9.73}, {'connected_gene': 'GC11P034062', 'score': 0.26}]
chr11 GH11I034067 34067074 34068843 0.99 [{'connected_gene': 'NAT10', 'score': 12.01}, {'connected_gene': 'CAPRIN1', 'score': 7.95}, {'connected_gene': 'GC11P034062', 'score': 0.44}, {'connected_gene': 'GC11P034049', 'score': 0.37}]
chr11 GH11I034065 34065974 34066103 0.43 [{'connected_gene': 'NAT10', 'score': 12.01}, {'connected_gene': 'GC11P034062', 'score': 0.77}, {'connected_gene': 'CAPRIN1', 'score': 0.39}, {'connected_gene': 'GC11P034049', 'score': 0.37}]
chr11 GH11I034341 34341363 34342814 1 [{'connected_gene': 'NAT10', 'score': 12.29}, {'connected_gene': 'ABTB2', 'score': 5.07}, {'connected_gene': 'LOC100216355', 'score': 0.44}]
chr11 GH11I034808 34808682 34810827 0.93 [{'connected_gene': 'APIP', 'score': 15.96}, {'connected_gene': 'NAT10', 'score': 12.45}, {'connected_gene': 'EHF', 'score': 10.19}, {'connected_gene': 'PDHX', 'score': 7.83}, {'connected_gene': 'GC11M034814', 'score': 0.44}, {'connected_gene': 'GC11M034793', 'score': 0.37}, {'connected_gene': 'LOC102723568', 'score': 0.13}]
chr11 GH11I034980 34980178 34981189 0.31 [{'connected_gene': 'APIP', 'score': 16.9}, {'connected_gene': 'NAT10', 'score': 14.64}, {'connected_gene': 'MIR1343', 'score': 12.05}, {'connected_gene': 'CAPRIN1', 'score': 10.13}, {'connected_gene': 'GC11P034975', 'score': 0.44}, {'connected_gene': 'GC11M035009', 'score': 0.29}, {'connected_gene': 'PDHX', 'score': 0.21}]
chr11 GH11I034002 34002514 34002663 0.52 [{'connected_gene': 'CAPRIN1', 'score': 12.25}, {'connected_gene': 'NAT10', 'score': 11.14}, {'connected_gene': 'ABTB2', 'score': 10.41}, {'connected_gene': 'GC11P034049', 'score': 0.25}, {'connected_gene': 'GC11P033942', 'score': 0.21}]
chr11 GH11I034074 34074602 34076189 0.72 [{'connected_gene': 'CAPRIN1', 'score': 20.58}, {'connected_gene': 'NAT10', 'score': 12.0}, {'connected_gene': 'GC11P034062', 'score': 0.39}, {'connected_gene': 'GC11P034049', 'score': 0.31}]
chr11 GH11I034027 34027316 34029288 1 [{'connected_gene': 'CAPRIN1', 'score': 12.67}, {'connected_gene': 'ABTB2', 'score': 10.71}, {'connected_gene': 'NAT10', 'score': 7.35}, {'connected_gene': 'CSTF3', 'score': 5.07}, {'connected_gene': 'GC11P034049', 'score': 0.34}, {'connected_gene': 'GC11P033942', 'score': 0.17}]
chr11 GH11I034013 34013609 34015089 0.31 [{'connected_gene': 'CAPRIN1', 'score': 17.35}, {'connected_gene': 'ABTB2', 'score': 10.33}, {'connected_gene': 'NAT10', 'score': 7.15}, {'connected_gene': 'GC11P034049', 'score': 0.28}, {'connected_gene': 'GC11P033942', 'score': 0.19}]
chr11 GH11I034084 34084206 34087371 0.56 [{'connected_gene': 'CAPRIN1', 'score': 20.41}, {'connected_gene': 'ABTB2', 'score': 10.41}, {'connected_gene': 'RPS24P15', 'score': 9.73}, {'connected_gene': 'CAT', 'score': 9.44}, {'connected_gene': 'NAT10', 'score': 0.37}, {'connected_gene': 'GC11P034062', 'score': 0.34}, {'connected_gene': 'GC11P034049', 'score': 0.28}]
chr11 GH11I034095 34095166 34099667 0.49 [{'connected_gene': 'CAPRIN1', 'score': 20.58}, {'connected_gene': 'ABTB2', 'score': 10.07}, {'connected_gene': 'CAT', 'score': 9.66}, {'connected_gene': 'NAT10', 'score': 0.44}, {'connected_gene': 'GC11P034062', 'score': 0.29}]
chr11 GH11I033912 33912166 33913356 1.59 [{'connected_gene': 'LMO2', 'score': 15.75}, {'connected_gene': 'NAT10', 'score': 14.7}, {'connected_gene': 'ENSG00000184566', 'score': 11.82}, {'connected_gene': 'CAPRIN1', 'score': 10.22}, {'connected_gene': 'CSTF3', 'score': 10.14}, {'connected_gene': 'LOC105376621', 'score': 0.37}, {'connected_gene': 'GC11P033942', 'score': 0.31}]
chr11 GH11I034160 34160997 34164392 0.87 [{'connected_gene': 'FBXO3', 'score': 14.08}, {'connected_gene': 'NAT10', 'score': 11.9}, {'connected_gene': 'ABTB2', 'score': 11.68}, {'connected_gene': 'CAPRIN1', 'score': 8.53}, {'connected_gene': 'GC11M034170', 'score': 0.44}, {'connected_gene': 'GC11P034155', 'score': 0.44}]
chr11 GH11I034343 34343022 34347611 1.35 [{'connected_gene': 'ABTB2', 'score': 20.7}, {'connected_gene': 'NAT10', 'score': 12.29}, {'connected_gene': 'CAT', 'score': 5.15}, {'connected_gene': 'LOC100216355', 'score': 0.44}]
chr11 GH11I034147 34147645 34150937 0.99 [{'connected_gene': 'ABTB2', 'score': 11.5}, {'connected_gene': 'CAPRIN1', 'score': 8.28}, {'connected_gene': 'NAT10', 'score': 7.88}, {'connected_gene': 'LOC102723539', 'score': 0.44}, {'connected_gene': 'PIR31774', 'score': 0.29}, {'connected_gene': 'GC11P034115', 'score': 0.29}]
chr11 GH11I034164 34164726 34168128 0.89 [{'connected_gene': 'ABTB2', 'score': 11.99}, {'connected_gene': 'CAPRIN1', 'score': 5.97}, {'connected_gene': 'NAT10', 'score': 5.51}, {'connected_gene': 'GC11M034170', 'score': 0.77}, {'connected_gene': 'GC11P034155', 'score': 0.39}]
chr11 GH11I034144 34144479 34145892 0.65 [{'connected_gene': 'ABTB2', 'score': 10.94}, {'connected_gene': 'CAPRIN1', 'score': 7.01}, {'connected_gene': 'LOC102723539', 'score': 0.44}, {'connected_gene': 'PIR31774', 'score': 0.31}, {'connected_gene': 'GC11P034115', 'score': 0.31}, {'connected_gene': 'NAT10', 'score': 0.28}]
chr11 GH11I034146 34146852 34147210 0.2 [{'connected_gene': 'ABTB2', 'score': 11.1}, {'connected_gene': 'LOC102723539', 'score': 0.44}, {'connected_gene': 'PIR31774', 'score': 0.29}, {'connected_gene': 'GC11P034115', 'score': 0.29}, {'connected_gene': 'NAT10', 'score': 0.26}]
chr11 GH11I033159 33159625 33163007 2.09 [{'connected_gene': 'CSTF3', 'score': 557.48}, {'connected_gene': 'CSTF3-AS1', 'score': 550.77}, {'connected_gene': 'NAT10', 'score': 37.54}, {'connected_gene': 'EIF3M', 'score': 28.55}, {'connected_gene': 'QSER1', 'score': 15.52}, {'connected_gene': 'HIPK3', 'score': 12.88}, {'connected_gene': 'CAPRIN1', 'score': 10.74}, {'connected_gene': 'TCP11L1', 'score': 6.08}, {'connected_gene': 'PIGCP1', 'score': 5.12}, {'connected_gene': 'DEPDC7', 'score': 5.07}, {'connected_gene': 'GC11M032953', 'score': 0.2}, {'connected_gene': 'PIR59958', 'score': 0.18}]
chr11 GH11I034437 34437458 34440567 2.28 [{'connected_gene': 'CAT', 'score': 580.71}, {'connected_gene': 'CAPRIN1', 'score': 14.01}, {'connected_gene': 'NAT10', 'score': 12.23}, {'connected_gene': 'ELF5', 'score': 0.19}]
chr11 GH11I034448 34448801 34449400 0.66 [{'connected_gene': 'CAT', 'score': 23.25}, {'connected_gene': 'ABTB2', 'score': 11.19}, {'connected_gene': 'NAT10', 'score': 10.89}, {'connected_gene': 'ELF5', 'score': 0.21}]
chr11 GH11I034169 34169140 34170918 0.46 [{'connected_gene': 'GC11M034170', 'score': 550.77}, {'connected_gene': 'NAT10', 'score': 15.84}, {'connected_gene': 'ABTB2', 'score': 12.6}, {'connected_gene': 'CAPRIN1', 'score': 5.03}, {'connected_gene': 'KIAA1549L', 'score': 4.73}, {'connected_gene': 'GC11M034172', 'score': 0.77}, {'connected_gene': 'GC11P034155', 'score': 0.39}]
chr11 GH11I034064 34064088 34064675 0.6 [{'connected_gene': 'GC11P034062', 'score': 550.77}, {'connected_gene': 'CAPRIN1', 'score': 8.8}, {'connected_gene': 'GC11P034049', 'score': 0.39}, {'connected_gene': 'NAT10', 'score': 0.26}]
chr11 GH11I034157 34157033 34157971 0.43 [{'connected_gene': 'GC11P034155', 'score': 550.77}, {'connected_gene': 'ABTB2', 'score': 11.5}, {'connected_gene': 'NAT10', 'score': 11.34}, {'connected_gene': 'LOC102723539', 'score': 0.77}, {'connected_gene': 'GC11M034170', 'score': 0.39}]
chr11 GH11I034155 34155562 34156553 0.31 [{'connected_gene': 'GC11P034155', 'score': 550.77}, {'connected_gene': 'LOC102723539', 'score': 550.77}, {'connected_gene': 'ABTB2', 'score': 11.5}, {'connected_gene': 'NAT10', 'score': 11.34}, {'connected_gene': 'CAPRIN1', 'score': 7.8}, {'connected_gene': 'GC11M034170', 'score': 0.39}]
chr11 GH11I034153 34153912 34155387 0.8 [{'connected_gene': 'GC11P034155', 'score': 550.77}, {'connected_gene': 'LOC102723539', 'score': 550.77}, {'connected_gene': 'ABTB2', 'score': 11.5}, {'connected_gene': 'NAT10', 'score': 11.35}, {'connected_gene': 'RPS24P15', 'score': 9.73}, {'connected_gene': 'PIR31774', 'score': 0.28}, {'connected_gene': 'GC11P034115', 'score': 0.28}]
chr11 GH11I034404 34404801 34405600 1.46 [{'connected_gene': 'ENSG00000220204', 'score': 550.77}, {'connected_gene': 'CAT', 'score': 30.66}, {'connected_gene': 'NAT10', 'score': 20.21}, {'connected_gene': 'ABTB2', 'score': 14.14}, {'connected_gene': 'CAPRIN1', 'score': 10.77}, {'connected_gene': 'GC11P034408', 'score': 0.77}]

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