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
ENST00000394235 [[139978373, 139980761], [139981477, 139981828], [139983018, 139983211], [139988837, 139988924], [139993019, 139993157], [139994607, 139994721], [140046317, 140046483], [140058783, 140059021], [140060566, 140060651], [140098120, 140098372]] [[139980136, 139980761], [139981477, 139981828], [139983018, 139983211], [139988837, 139988924], [139993019, 139993157], [139994607, 139994721], [140046317, 140046483], [140058783, 140058855]]
ENST00000379549 [[139978870, 139980761], [139981477, 139981828], [139983018, 139983211], [139993019, 139993193], [139994607, 139994721], [140005286, 140005344]] [[139980136, 139980761], [139981477, 139981828], [139983018, 139983211], [139993019, 139993193], [139994607, 139994721], [140005286, 140005344]]
ENST00000379550 [[139978870, 139980761], [139981477, 139981828], [139983018, 139983211], [139988837, 139988924], [139993019, 139993193], [139994607, 139994721], [140046317, 140046483], [140058783, 140059021], [140060566, 140060606]] [[139980136, 139980761], [139981477, 139981828], [139983018, 139983211], [139988837, 139988924], [139993019, 139993193], [139994607, 139994721], [140046317, 140046483], [140058783, 140058855]]
ENST00000265495 [[139978870, 139980761], [139981477, 139981828], [139983018, 139983211], [139988837, 139988924], [139993019, 139993157], [139994607, 139994721], [140046317, 140046483], [140058783, 140059021], [140060566, 140060606]] [[139980136, 139980761], [139981477, 139981828], [139983018, 139983211], [139988837, 139988924], [139993019, 139993157], [139994607, 139994721], [140046317, 140046483], [140058783, 140058855]]
ENST00000358635 [[139979008, 139980761], [139981477, 139981828], [139983018, 139983211], [139988837, 139988924], [139993019, 139993193], [139994607, 139994721], [140005286, 140005650]] [[139980136, 139980761], [139981477, 139981828], [139983018, 139983211], [139988837, 139988924], [139993019, 139993193], [139994607, 139994721], [140005286, 140005344]]
ENST00000510408 [[139979872, 139980761], [139981477, 139981828], [139983018, 139983211], [139988837, 139988924], [139993019, 139993157], [139994607, 139994721], [140005286, 140005479]] [[139980136, 139980761], [139981477, 139981828], [139983018, 139983211], [139988837, 139988924], [139993019, 139993157], [139994607, 139994721], [140005286, 140005344]]
ENST00000420916 [[139981632, 139981828], [139983018, 139983211], [139993019, 139993193], [139994607, 139994721], [140005286, 140005491]] [[139981632, 139981828], [139983018, 139983211], [139993019, 139993193], [139994607, 139994721], [140005286, 140005344]]
ENST00000512627 [[139981754, 139981828], [139983018, 139983211], [139993019, 139993157], [139994607, 139994721], [140005286, 140005378]] [[139981754, 139981828], [139983018, 139983211], [139993019, 139993157], [139994607, 139994721], [140005286, 140005344]]
ENST00000514577 [[139983020, 139983211], [139988837, 139988924], [139993019, 139993157], [139994607, 139994873]] None
ENST00000504314 [[139983090, 139983211], [139988837, 139988924], [139993019, 139993374]] None
ENST00000515489 [[139949265, 139949503], [139981477, 139981749]] None
ENST00000514606 [[139987163, 139988924], [139993019, 139993157], [139994607, 139994721], [140005286, 140005492]] None
ENST00000511184 [[140022744, 140023507], [140037802, 140037961], [140038982, 140039104], [140046317, 140046483], [140058783, 140059021], [140060566, 140060651], [140098120, 140098353]] [[140039060, 140039104], [140046317, 140046483], [140058783, 140058855]]
ENST00000511006 [[140057924, 140059021], [140060566, 140060651], [140098120, 140098372]] None
NM_001331036 [[139978411, 139980761], [139981477, 139981828], [139983018, 139983211], [139988837, 139988924], [139993019, 139993193], [139994607, 139994721], [140046317, 140046483], [140058783, 140059021], [140060566, 140060651], [140098120, 140098372]] [[139980136, 139980761], [139981477, 139981828], [139983018, 139983211], [139988837, 139988924], [139993019, 139993193], [139994607, 139994721], [140046317, 140046483], [140058783, 140058855]]
NM_006874 [[139978870, 139980761], [139981477, 139981828], [139983018, 139983211], [139988837, 139988924], [139993019, 139993193], [139994607, 139994721], [140005286, 140005568]] [[139980136, 139980761], [139981477, 139981828], [139983018, 139983211], [139988837, 139988924], [139993019, 139993193], [139994607, 139994721], [140005286, 140005344]]
NM_001276457 [[139978870, 139980761], [139981477, 139981828], [139983018, 139983211], [139993019, 139993193], [139994607, 139994721], [140005286, 140005568]] [[139980136, 139980761], [139981477, 139981828], [139983018, 139983211], [139993019, 139993193], [139994607, 139994721], [140005286, 140005344]]
NM_001276458 [[139978870, 139980761], [139981477, 139981828], [139983018, 139983211], [139988837, 139988924], [139993019, 139993157], [139994607, 139994721], [140005286, 140005568]] [[139980136, 139980761], [139981477, 139981828], [139983018, 139983211], [139988837, 139988924], [139993019, 139993157], [139994607, 139994721], [140005286, 140005344]]
NM_001276459 [[139978870, 139980761], [139981477, 139981828], [139983018, 139983211], [139993019, 139993157], [139994607, 139994721], [140005286, 140005568]] [[139980136, 139980761], [139981477, 139981828], [139983018, 139983211], [139993019, 139993157], [139994607, 139994721], [140005286, 140005344]]
NM_201999 [[139978870, 139980761], [139981477, 139981828], [139983018, 139983211], [139988837, 139988924], [139993019, 139993157], [139994607, 139994721], [140046317, 140046483], [140058783, 140059021], [140060566, 140060630]] [[139980136, 139980761], [139981477, 139981828], [139983018, 139983211], [139988837, 139988924], [139993019, 139993157], [139994607, 139994721], [140046317, 140046483], [140058783, 140058855]]
Promoter
Chrom Start End Description
chr4 140005341 140005411 CAGE_peak_3_at_ELF2_5end
chr4 140005443 140005527 CAGE_peak_2_at_ELF2_5end
chr4 140098339 140098392 CAGE_peak_1_at_ELF2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I139278 139278566 139280571 1.78 [{'connected_gene': 'MGARP', 'score': 550.77}, {'connected_gene': 'RAB33B', 'score': 13.93}, {'connected_gene': 'MAML3', 'score': 11.92}, {'connected_gene': 'ELF2', 'score': 11.45}, {'connected_gene': 'NDUFC1', 'score': 7.34}, {'connected_gene': 'RNU6-1074P', 'score': 0.34}, {'connected_gene': 'GC04M139257', 'score': 0.34}]
chr4 GH04I139030 139030323 139031125 0.73 [{'connected_gene': 'MGARP', 'score': 10.59}, {'connected_gene': 'NOCT', 'score': 0.39}, {'connected_gene': 'RNU6-531P', 'score': 0.34}, {'connected_gene': 'ELF2', 'score': 0.11}]
chr4 GH04I139241 139241167 139244691 1.28 [{'connected_gene': 'MGARP', 'score': 19.48}, {'connected_gene': 'ELF2', 'score': 11.42}, {'connected_gene': 'NDUFC1', 'score': 7.58}, {'connected_gene': 'RAB33B', 'score': 4.38}, {'connected_gene': 'RNU6-1074P', 'score': 0.39}, {'connected_gene': 'GC04M139257', 'score': 0.39}, {'connected_gene': 'RNU6-506P', 'score': 0.39}]
chr4 GH04I139027 139027759 139028848 0.62 [{'connected_gene': 'MGARP', 'score': 10.6}, {'connected_gene': 'ELF2', 'score': 5.02}, {'connected_gene': 'NOCT', 'score': 0.39}, {'connected_gene': 'RNU6-531P', 'score': 0.31}]
chr4 GH04I139169 139169386 139169585 0.46 [{'connected_gene': 'MGARP', 'score': 11.19}, {'connected_gene': 'GC04P139173', 'score': 0.77}, {'connected_gene': 'ELF2', 'score': 0.44}, {'connected_gene': 'ENSG00000276396', 'score': 0.39}]
chr4 GH04I139167 139167337 139169089 1.15 [{'connected_gene': 'MGARP', 'score': 11.19}, {'connected_gene': 'GC04P139173', 'score': 0.44}, {'connected_gene': 'ELF2', 'score': 0.44}, {'connected_gene': 'ENSG00000276396', 'score': 0.39}]
chr4 GH04I139223 139223787 139224001 0.66 [{'connected_gene': 'MGARP', 'score': 12.65}, {'connected_gene': 'RNU6-1074P', 'score': 12.57}, {'connected_gene': 'ELF2', 'score': 12.21}, {'connected_gene': 'RNU6-506P', 'score': 0.44}, {'connected_gene': 'GC04P139211', 'score': 0.39}]
chr4 GH04I140078 140078083 140079179 1.06 [{'connected_gene': 'MAML3', 'score': 27.83}, {'connected_gene': 'ELF2', 'score': 14.05}, {'connected_gene': 'ELMOD2', 'score': 12.67}, {'connected_gene': 'LOC101927516', 'score': 11.85}, {'connected_gene': 'MGARP', 'score': 9.76}, {'connected_gene': 'TNRC18P1', 'score': 9.71}, {'connected_gene': 'GC04M140002', 'score': 0.19}]
chr4 GH04I140148 140148111 140155174 2.6 [{'connected_gene': 'MAML3', 'score': 571.66}, {'connected_gene': 'GC04M140150', 'score': 550.77}, {'connected_gene': 'ELF2', 'score': 19.12}, {'connected_gene': 'ELMOD2', 'score': 13.94}, {'connected_gene': 'LOC101927516', 'score': 12.05}]
chr4 GH04I139156 139156417 139161123 0.8 [{'connected_gene': 'MAML3', 'score': 11.92}, {'connected_gene': 'RNU6-1074P', 'score': 11.88}, {'connected_gene': 'ELF2', 'score': 11.67}, {'connected_gene': 'MGARP', 'score': 11.11}, {'connected_gene': 'LOC105377448', 'score': 10.44}, {'connected_gene': 'NOCT', 'score': 10.44}, {'connected_gene': 'ENSG00000276396', 'score': 0.77}, {'connected_gene': 'GC04P139173', 'score': 0.39}]
chr4 GH04I140087 140087184 140101664 1.68 [{'connected_gene': 'MAML3', 'score': 23.24}, {'connected_gene': 'LOC101927516', 'score': 12.24}, {'connected_gene': 'ELF2', 'score': 9.85}, {'connected_gene': 'GC04M140002', 'score': 0.17}]
chr4 GH04I139312 139312402 139317250 1.39 [{'connected_gene': 'NDUFC1', 'score': 19.16}, {'connected_gene': 'MGARP', 'score': 17.06}, {'connected_gene': 'RAB33B', 'score': 7.47}, {'connected_gene': 'H3F3AP6', 'score': 4.46}, {'connected_gene': 'ELF2', 'score': 2.51}, {'connected_gene': 'GC04P139319', 'score': 0.77}, {'connected_gene': 'NAA15', 'score': 0.39}]
chr4 GH04I139294 139294702 139296807 2.27 [{'connected_gene': 'NDUFC1', 'score': 570.2}, {'connected_gene': 'GC04P139295', 'score': 550.77}, {'connected_gene': 'RAB33B', 'score': 15.1}, {'connected_gene': 'RNU6-1074P', 'score': 11.9}, {'connected_gene': 'ELF2', 'score': 11.25}, {'connected_gene': 'RNU6-1214P', 'score': 11.22}, {'connected_gene': 'NAA15', 'score': 0.44}]
chr4 GH04I139013 139013519 139017601 2.08 [{'connected_gene': 'NOCT', 'score': 550.77}, {'connected_gene': 'ELF2', 'score': 26.62}, {'connected_gene': 'LOC101927490', 'score': 5.16}, {'connected_gene': 'LOC105377448', 'score': 0.77}]
chr4 GH04I139040 139039785 139040019 0.39 [{'connected_gene': 'NOCT', 'score': 13.85}, {'connected_gene': 'LOC105377448', 'score': 11.7}, {'connected_gene': 'MGARP', 'score': 10.59}, {'connected_gene': 'NAA15', 'score': 1.3}, {'connected_gene': 'RNU6-531P', 'score': 0.37}, {'connected_gene': 'ELF2', 'score': 0.12}]
chr4 GH04I139039 139039068 139039552 0.28 [{'connected_gene': 'NOCT', 'score': 18.86}, {'connected_gene': 'LOC105377448', 'score': 11.7}, {'connected_gene': 'MGARP', 'score': 10.59}, {'connected_gene': 'ELF2', 'score': 4.85}, {'connected_gene': 'RNU6-531P', 'score': 0.37}]
chr4 GH04I139188 139188002 139189829 1.59 [{'connected_gene': 'NOCT', 'score': 19.38}, {'connected_gene': 'PPP1R14BP3', 'score': 12.51}, {'connected_gene': 'MGARP', 'score': 11.07}, {'connected_gene': 'RNU6-1074P', 'score': 10.91}, {'connected_gene': 'ELF2', 'score': 6.84}, {'connected_gene': 'RAB33B', 'score': 4.57}, {'connected_gene': 'RN7SL311P', 'score': 0.77}, {'connected_gene': 'GC04P139201', 'score': 0.39}, {'connected_gene': 'GC04P139173', 'score': 0.37}]
chr4 GH04I139096 139096530 139096646 0.26 [{'connected_gene': 'ELF2', 'score': 24.67}, {'connected_gene': 'MGARP', 'score': 11.5}, {'connected_gene': 'NOCT', 'score': 10.64}, {'connected_gene': 'LOC105377448', 'score': 10.64}, {'connected_gene': 'RAB33B', 'score': 1.86}, {'connected_gene': 'GC04P139099', 'score': 0.77}, {'connected_gene': 'RNU6-531P', 'score': 0.26}]
chr4 GH04I139400 139400251 139400565 0.37 [{'connected_gene': 'ELF2', 'score': 2.35}, {'connected_gene': 'RAB33B', 'score': 2.33}, {'connected_gene': 'NAA15', 'score': 1.93}, {'connected_gene': 'LOC105377449', 'score': 0.39}, {'connected_gene': 'GC04P139370', 'score': 0.31}]
chr4 GH04I139144 139144077 139145518 0.74 [{'connected_gene': 'ELF2', 'score': 18.59}, {'connected_gene': 'RAB33B', 'score': 4.95}, {'connected_gene': 'ENSG00000276396', 'score': 0.39}, {'connected_gene': 'PPP1R14BP3', 'score': 0.31}]
chr4 GH04I139081 139081527 139085966 2.44 [{'connected_gene': 'ELF2', 'score': 633.26}, {'connected_gene': 'NAA15', 'score': 27.16}, {'connected_gene': 'NOCT', 'score': 12.61}, {'connected_gene': 'ENSG00000273247', 'score': 12.48}, {'connected_gene': 'LOC105377448', 'score': 11.29}, {'connected_gene': 'MGARP', 'score': 11.23}, {'connected_gene': 'RAB33B', 'score': 6.91}, {'connected_gene': 'H3F3AP6', 'score': 5.87}, {'connected_gene': 'GC04P139099', 'score': 0.37}, {'connected_gene': 'RNU6-531P', 'score': 0.31}]
chr4 GH04I138650 138650352 138651914 0.63 [{'connected_gene': 'ELF2', 'score': 15.31}, {'connected_gene': 'NAA15', 'score': 10.66}, {'connected_gene': 'ENSG00000250977', 'score': 0.39}, {'connected_gene': 'GC04M138565', 'score': 0.18}]
chr4 GH04I139175 139175485 139179242 2.53 [{'connected_gene': 'ELF2', 'score': 567.33}, {'connected_gene': 'NOCT', 'score': 13.28}, {'connected_gene': 'NDUFC1', 'score': 6.01}, {'connected_gene': 'RAB33B', 'score': 5.25}, {'connected_gene': 'GC04P139173', 'score': 0.77}, {'connected_gene': 'GC04P139186', 'score': 0.44}]
chr4 GH04I139018 139018137 139019982 0.63 [{'connected_gene': 'ELF2', 'score': 4.88}, {'connected_gene': 'NOCT', 'score': 0.77}, {'connected_gene': 'RNU6-531P', 'score': 0.28}]
chr4 GH04I139227 139227353 139228808 0.68 [{'connected_gene': 'ELF2', 'score': 16.68}, {'connected_gene': 'RNU6-1074P', 'score': 12.88}, {'connected_gene': 'MGARP', 'score': 12.66}, {'connected_gene': 'RNU6-506P', 'score': 0.77}, {'connected_gene': 'GC04P139211', 'score': 0.37}]
chr4 GH04I139207 139207201 139209545 1.26 [{'connected_gene': 'ELF2', 'score': 17.37}, {'connected_gene': 'RNU6-1074P', 'score': 12.63}, {'connected_gene': 'MGARP', 'score': 12.15}, {'connected_gene': 'GC04P139211', 'score': 0.77}, {'connected_gene': 'ENSG00000207384', 'score': 0.44}, {'connected_gene': 'GC04P139173', 'score': 0.29}]
chr4 GH04I139213 139213533 139215135 1.32 [{'connected_gene': 'RNU6-1074P', 'score': 12.64}, {'connected_gene': 'ELF2', 'score': 12.24}, {'connected_gene': 'MGARP', 'score': 12.19}, {'connected_gene': 'MAML3', 'score': 11.8}, {'connected_gene': 'RAB33B', 'score': 5.25}, {'connected_gene': 'GC04P139211', 'score': 0.77}, {'connected_gene': 'RNU6-506P', 'score': 0.37}]
chr4 GH04I139230 139230697 139234489 0.2 [{'connected_gene': 'RNU6-506P', 'score': 550.77}, {'connected_gene': 'RNU6-1074P', 'score': 12.91}, {'connected_gene': 'MGARP', 'score': 12.47}, {'connected_gene': 'RAB33B', 'score': 9.79}, {'connected_gene': 'ELF2', 'score': 5.08}, {'connected_gene': 'GC04M139257', 'score': 0.34}]
chr4 GH04I139413 139413536 139413804 0.25 [{'connected_gene': 'LOC105377449', 'score': 550.77}, {'connected_gene': 'RAB33B', 'score': 20.61}, {'connected_gene': 'ELF2', 'score': 1.34}, {'connected_gene': 'GC04P139422', 'score': 0.44}, {'connected_gene': 'LOC101927451', 'score': 0.26}, {'connected_gene': 'ENSG00000273247', 'score': 0.26}, {'connected_gene': 'NAA15', 'score': 0.14}]
chr4 GH04I139115 139115001 139115400 0.61 [{'connected_gene': 'PPP1R14BP3', 'score': 550.77}, {'connected_gene': 'ELF2', 'score': 11.63}, {'connected_gene': 'RNU6-1074P', 'score': 11.42}, {'connected_gene': 'MGARP', 'score': 11.04}, {'connected_gene': 'RN7SL382P', 'score': 0.39}]
chr4 GH04I139163 139163601 139164000 0.81 [{'connected_gene': 'PPP1R14BP3', 'score': 12.56}, {'connected_gene': 'RNU6-1074P', 'score': 11.88}, {'connected_gene': 'MGARP', 'score': 11.11}, {'connected_gene': 'NOCT', 'score': 10.44}, {'connected_gene': 'LOC105377448', 'score': 10.43}, {'connected_gene': 'GC04P139173', 'score': 0.44}, {'connected_gene': 'ENSG00000276396', 'score': 0.44}, {'connected_gene': 'ELF2', 'score': 0.39}]
chr4 GH04I139550 139550846 139561998 2.64 [{'connected_gene': 'ENSG00000272717', 'score': 550.77}, {'connected_gene': 'SETD7', 'score': 550.23}, {'connected_gene': 'ELF2', 'score': 14.78}, {'connected_gene': 'NAA15', 'score': 13.64}, {'connected_gene': 'MAML3', 'score': 12.83}, {'connected_gene': 'ELMOD2', 'score': 10.29}, {'connected_gene': 'NDUFC1', 'score': 4.55}, {'connected_gene': 'FTH1P24', 'score': 0.39}]
chr4 GH04I139151 139151881 139156008 1.13 [{'connected_gene': 'ENSG00000276396', 'score': 550.77}, {'connected_gene': 'ELF2', 'score': 17.88}, {'connected_gene': 'RNU6-1074P', 'score': 11.87}, {'connected_gene': 'MGARP', 'score': 11.29}, {'connected_gene': 'NOCT', 'score': 10.45}, {'connected_gene': 'LOC105377448', 'score': 10.44}, {'connected_gene': 'PPP1R14BP3', 'score': 0.28}]
chr4 GH04I139199 139199759 139201117 0.38 [{'connected_gene': 'ENSG00000207384', 'score': 550.77}, {'connected_gene': 'GC04P139201', 'score': 550.77}, {'connected_gene': 'ELF2', 'score': 6.03}, {'connected_gene': 'GC04P139211', 'score': 0.39}, {'connected_gene': 'GC04P139173', 'score': 0.31}]
chr4 GH04I139171 139171768 139173036 1.04 [{'connected_gene': 'GC04P139173', 'score': 550.77}, {'connected_gene': 'ELF2', 'score': 7.47}, {'connected_gene': 'ENSG00000276396', 'score': 0.37}]
chr4 GH04I139099 139099507 139099676 0.72 [{'connected_gene': 'GC04P139099', 'score': 550.77}, {'connected_gene': 'RN7SL382P', 'score': 550.77}, {'connected_gene': 'ELF2', 'score': 11.79}, {'connected_gene': 'MGARP', 'score': 11.5}, {'connected_gene': 'NOCT', 'score': 10.22}, {'connected_gene': 'LOC105377448', 'score': 10.21}, {'connected_gene': 'RNU6-531P', 'score': 0.26}]

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