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
ENST00000506851 [[145888263, 145888312], [145985723, 145985844], [146002811, 146002902], [146017136, 146017263], [146019282, 146019365]] None
ENST00000502651 [[145916076, 145916755], [146002811, 146002902], [146019271, 146019368]] None
ENST00000507656 [[145916151, 145916755], [145985723, 145985844], [146002811, 146002902], [146017136, 146017263], [146019271, 146019353]] [[145916524, 145916755], [145985723, 145985844], [146002811, 146002902], [146017136, 146017251]]
ENST00000451299 [[145916309, 145916755], [145985723, 145985844], [146002811, 146002902], [146017136, 146017263], [146018839, 146018912], [146019271, 146019341]] [[145916524, 145916755], [145985723, 145985844], [146002811, 146002902], [146017136, 146017251]]
ENST00000309439 [[145916309, 145916755], [145985723, 145985844], [146002811, 146002902], [146017136, 146017263], [146019282, 146019365]] [[145916524, 145916755], [145985723, 145985844], [146002811, 146002902], [146017136, 146017251]]
ENST00000510270 [[145916312, 145916755], [145920408, 145920446], [145985723, 145985844], [146002811, 146002902], [146017136, 146017263], [146018839, 146018912], [146019271, 146019341]] None
ENST00000511466 [[145916347, 145916755], [146002811, 146002902], [146017136, 146017263], [146019282, 146019343]] None
ENST00000514390 [[145916606, 145916755], [145985723, 145985844], [146002811, 146002902], [146017136, 146017263], [146019387, 146019693]] [[145916606, 145916755], [145985723, 145985844], [146002811, 146002902], [146017136, 146017251]]
ENST00000513054 [[145916607, 145916755], [145985723, 145985844], [146002811, 146002902], [146017136, 146017263], [146018646, 146018714], [146018839, 146018912], [146019271, 146019332]] [[145916607, 145916755], [145985723, 145985844], [146002811, 146002902], [146017136, 146017251]]
ENST00000502562 [[145954196, 145954523], [145985723, 145985844], [146002811, 146002902], [146017136, 146017263], [146019271, 146019348]] None
ENST00000512680 [[145974830, 145974932], [145985723, 145985844], [146002811, 146002902], [146017136, 146017263], [146018839, 146018903]] [[145974878, 145974932], [145985723, 145985844], [146002811, 146002902], [146017136, 146017251]]
ENST00000508087 [[145985137, 145985513], [145985723, 145985844], [146002811, 146002902], [146017136, 146017263], [146019282, 146019316]] None
ENST00000504721 [[145985723, 145985844], [146002811, 146002902], [146017136, 146017263], [146018396, 146018534]] [[145985723, 145985844], [146002811, 146002902], [146017136, 146017251]]
ENST00000514704 [[146002694, 146002902], [146017136, 146017263], [146018839, 146019319]] None
ENST00000507134 [[146002740, 146002902], [146017136, 146017263], [146018646, 146018714], [146018839, 146019335]] None
ENST00000502847 [[146002811, 146002902], [146017136, 146017263], [146018646, 146018714], [146018839, 146018912], [146019038, 146019287]] [[146002811, 146002902], [146017136, 146017251]]
NM_001318367 [[145915726, 145916755], [145985723, 145985844], [146002811, 146002902], [146017136, 146017263], [146018396, 146018534]] [[145916524, 145916755], [145985723, 145985844], [146002811, 146002902], [146017136, 146017263], [146018396, 146018486]]
NM_001256709 [[145915726, 145916755], [145985723, 145985844], [146002811, 146002902], [146017136, 146017263], [146018646, 146018714], [146018839, 146018912], [146019271, 146019371]] [[145916524, 145916755], [145985723, 145985844], [146002811, 146002902], [146017136, 146017263], [146018646, 146018667]]
NM_001256711 [[145915726, 145916755], [145920408, 145920446], [145985723, 145985844], [146002811, 146002902], [146017136, 146017263], [146018839, 146018912], [146019271, 146019371]] [[145920428, 145920446], [145985723, 145985844], [146002811, 146002902], [146017136, 146017251]]
NM_001256707 [[145915726, 145916755], [145985723, 145985844], [146002811, 146002902], [146017136, 146017263], [146018839, 146018912], [146019271, 146019371]] [[145916524, 145916755], [145985723, 145985844], [146002811, 146002902], [146017136, 146017251]]
NM_001256710 [[145915726, 145916755], [145920408, 145920446], [145985723, 145985844], [146002811, 146002902], [146017136, 146017263], [146019271, 146019371]] [[145920428, 145920446], [145985723, 145985844], [146002811, 146002902], [146017136, 146017251]]
NM_001256706 [[145915726, 145916755], [145985723, 145985844], [146002811, 146002902], [146017136, 146017263], [146019271, 146019371]] [[145916524, 145916755], [145985723, 145985844], [146002811, 146002902], [146017136, 146017251]]
NR_046345 [[145915726, 145916755], [146002811, 146002902], [146019271, 146019371]] None
NM_014885 [[145915726, 145916755], [145985723, 145985844], [146002811, 146002902], [146017136, 146017263], [146019282, 146019371]] [[145916524, 145916755], [145985723, 145985844], [146002811, 146002902], [146017136, 146017251]]
NM_001256712 [[145915726, 145916755], [146002811, 146002902], [146017136, 146017263], [146019282, 146019371]] [[145916709, 145916755], [146002811, 146002902], [146017136, 146017251]]
NM_001256708 [[145915726, 145916755], [145985723, 145985844], [146002811, 146002902], [146017136, 146017263], [146019387, 146019693]] [[145916524, 145916755], [145985723, 145985844], [146002811, 146002902], [146017136, 146017251]]
Promoter
Chrom Start End Description
chr4 146019296 146019330 CAGE_peak_2_at_ANAPC10_5end
chr4 146019335 146019377 CAGE_peak_1_at_ANAPC10_5end
chr4 146019721 146019724 CAGE_peak_4_at_ANAPC10_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I145812 145812255 145813860 0.97 [{'connected_gene': 'OTUD4', 'score': 29.87}, {'connected_gene': 'ENSG00000248356', 'score': 13.55}, {'connected_gene': 'SLC10A7', 'score': 12.19}, {'connected_gene': 'ANAPC10', 'score': 10.03}, {'connected_gene': 'LSM6', 'score': 9.83}, {'connected_gene': 'ENSG00000279481', 'score': 0.37}, {'connected_gene': 'GC04M145759', 'score': 0.23}, {'connected_gene': 'ZNF827', 'score': 0.13}]
chr4 GH04I145175 145175643 145183385 2.47 [{'connected_gene': 'OTUD4', 'score': 551.96}, {'connected_gene': 'LOC105377463', 'score': 550.77}, {'connected_gene': 'ANAPC10', 'score': 11.83}, {'connected_gene': 'ABCE1', 'score': 9.89}, {'connected_gene': 'MMAA', 'score': 2.38}]
chr4 GH04I145130 145130191 145131800 0.69 [{'connected_gene': 'OTUD4', 'score': 11.53}, {'connected_gene': 'ANAPC10', 'score': 11.32}, {'connected_gene': 'ABCE1', 'score': 11.32}, {'connected_gene': 'ENSG00000238713', 'score': 0.37}, {'connected_gene': 'GC04M145151', 'score': 0.37}]
chr4 GH04I145132 145132069 145133232 0.7 [{'connected_gene': 'OTUD4', 'score': 11.53}, {'connected_gene': 'ANAPC10', 'score': 11.32}, {'connected_gene': 'ABCE1', 'score': 11.32}, {'connected_gene': 'ENSG00000238713', 'score': 0.37}, {'connected_gene': 'GC04M145151', 'score': 0.37}]
chr4 GH04I145103 145103106 145103162 0.24 [{'connected_gene': 'OTUD4', 'score': 10.99}, {'connected_gene': 'ANAPC10', 'score': 0.77}, {'connected_gene': 'ABCE1', 'score': 0.44}, {'connected_gene': 'ENSG00000238713', 'score': 0.25}, {'connected_gene': 'GC04M145151', 'score': 0.25}]
chr4 GH04I145034 145034180 145036033 1.23 [{'connected_gene': 'RN7SKP235', 'score': 550.77}, {'connected_gene': 'HHIP', 'score': 4.4}, {'connected_gene': 'ANAPC10', 'score': 0.21}, {'connected_gene': 'ENSG00000251452', 'score': 0.14}]
chr4 GH04I145043 145043380 145043587 0.4 [{'connected_gene': 'RN7SKP235', 'score': 0.44}, {'connected_gene': 'ABCE1', 'score': 0.23}, {'connected_gene': 'ANAPC10', 'score': 0.22}]
chr4 GH04I145036 145036340 145037500 0.2 [{'connected_gene': 'RN7SKP235', 'score': 550.77}, {'connected_gene': 'ANAPC10', 'score': 0.21}, {'connected_gene': 'ABCE1', 'score': 0.21}]
chr4 GH04I145058 145058860 145059746 0.2 [{'connected_gene': 'RN7SKP235', 'score': 0.34}, {'connected_gene': 'ANAPC10', 'score': 0.28}, {'connected_gene': 'ABCE1', 'score': 0.28}]
chr4 GH04I145012 145012601 145014200 0.92 [{'connected_gene': 'RN7SKP235', 'score': 0.34}, {'connected_gene': 'ANAPC10', 'score': 0.17}, {'connected_gene': 'ENSG00000251452', 'score': 0.16}]
chr4 GH04I145124 145124997 145127053 0.46 [{'connected_gene': 'ANAPC10', 'score': 11.55}, {'connected_gene': 'ABCE1', 'score': 11.55}, {'connected_gene': 'OTUD4', 'score': 11.52}, {'connected_gene': 'ENSG00000238713', 'score': 0.34}, {'connected_gene': 'GC04M145151', 'score': 0.34}]
chr4 GH04I145096 145096387 145100407 2.27 [{'connected_gene': 'ANAPC10', 'score': 550.77}, {'connected_gene': 'ABCE1', 'score': 550.77}, {'connected_gene': 'ENSG00000248356', 'score': 11.79}, {'connected_gene': 'OTUD4', 'score': 10.98}]
chr4 GH04I145065 145065915 145066801 0.59 [{'connected_gene': 'ANAPC10', 'score': 0.29}, {'connected_gene': 'ABCE1', 'score': 0.29}, {'connected_gene': 'RN7SKP235', 'score': 0.29}]
chr4 GH04I145084 145084029 145084178 0.38 [{'connected_gene': 'ANAPC10', 'score': 0.39}, {'connected_gene': 'ABCE1', 'score': 0.39}, {'connected_gene': 'RN7SKP235', 'score': 0.25}]
chr4 GH04I145057 145057421 145058288 0.2 [{'connected_gene': 'ANAPC10', 'score': 11.01}, {'connected_gene': 'ABCE1', 'score': 11.01}, {'connected_gene': 'RN7SKP235', 'score': 0.34}]
chr4 GH04I145085 145084420 145084970 0.2 [{'connected_gene': 'ANAPC10', 'score': 0.39}, {'connected_gene': 'ABCE1', 'score': 0.39}, {'connected_gene': 'RN7SKP235', 'score': 0.25}]
chr4 GH04I145074 145074352 145075383 0.2 [{'connected_gene': 'ANAPC10', 'score': 11.84}, {'connected_gene': 'ABCE1', 'score': 11.84}, {'connected_gene': 'RN7SKP235', 'score': 0.28}]
chr4 GH04I145075 145075399 145076317 0.31 [{'connected_gene': 'ANAPC10', 'score': 11.84}, {'connected_gene': 'ABCE1', 'score': 11.84}, {'connected_gene': 'RN7SKP235', 'score': 0.26}]
chr4 GH04I145195 145195209 145196298 0.69 [{'connected_gene': 'ANAPC10', 'score': 10.38}, {'connected_gene': 'ABCE1', 'score': 10.38}, {'connected_gene': 'LOC105377465', 'score': 0.44}, {'connected_gene': 'GC04P145186', 'score': 0.44}]
chr4 GH04I145171 145171637 145172242 0.46 [{'connected_gene': 'ANAPC10', 'score': 10.81}, {'connected_gene': 'ABCE1', 'score': 10.81}, {'connected_gene': 'LOC105377463', 'score': 0.44}, {'connected_gene': 'OTUD4', 'score': 0.44}, {'connected_gene': 'GC04M145156', 'score': 0.37}]
chr4 GH04I144651 144651690 144658513 0.62 [{'connected_gene': 'ENSG00000248356', 'score': 11.39}, {'connected_gene': 'OTUD4', 'score': 10.34}, {'connected_gene': 'ANAPC10', 'score': 10.05}, {'connected_gene': 'RTN3P1', 'score': 5.6}, {'connected_gene': 'HHIP-AS1', 'score': 0.44}, {'connected_gene': 'HHIP', 'score': 0.44}, {'connected_gene': 'GYPA', 'score': 0.08}]
chr4 GH04I144948 144948089 144948258 0.31 [{'connected_gene': 'ENSG00000251452', 'score': 0.31}, {'connected_gene': 'RN7SKP235', 'score': 0.17}, {'connected_gene': 'ANAPC10', 'score': 0.1}]
chr4 GH04I144938 144938849 144940129 0.2 [{'connected_gene': 'ENSG00000251452', 'score': 0.37}, {'connected_gene': 'RN7SKP235', 'score': 0.15}, {'connected_gene': 'ANAPC10', 'score': 0.1}]
chr4 GH04I144905 144905857 144907143 0.74 [{'connected_gene': 'ENSG00000251452', 'score': 0.39}, {'connected_gene': 'PIR60097', 'score': 0.39}, {'connected_gene': 'ANAPC10', 'score': 0.08}]