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
ENST00000296577 [[146019083, 146019571], [146025537, 146025667], [146026756, 146026842], [146029166, 146029264], [146030283, 146030401], [146031254, 146031392], [146031526, 146031596], [146032119, 146032216], [146033390, 146033480], [146038444, 146038566], [146041083, 146041305], [146042325, 146042385], [146042484, 146042543], [146044172, 146044283], [146044366, 146044509], [146044629, 146044752], [146046141, 146046253], [146048677, 146050331]] [[146025564, 146025667], [146026756, 146026842], [146029166, 146029264], [146030283, 146030401], [146031254, 146031392], [146031526, 146031596], [146032119, 146032216], [146033390, 146033480], [146038444, 146038566], [146041083, 146041305], [146042325, 146042385], [146042484, 146042543], [146044172, 146044283], [146044366, 146044509], [146044629, 146044752], [146046141, 146046253], [146048677, 146048725]]
ENST00000502586 [[146019439, 146019571], [146025540, 146025667], [146026756, 146026842], [146029166, 146029264], [146030283, 146030401], [146031254, 146031392], [146031526, 146031596], [146032119, 146032136]] [[146025564, 146025667], [146026756, 146026842], [146029166, 146029264], [146030283, 146030401], [146031254, 146031392], [146031526, 146031596], [146032119, 146032136]]
ENST00000502803 [[146019462, 146019571], [146025537, 146025667], [146041083, 146041305], [146042325, 146042385], [146042484, 146042543], [146044172, 146044283], [146044366, 146044457]] None
ENST00000507193 [[146019462, 146019571], [146025537, 146025667], [146026756, 146026842], [146029166, 146029264], [146030283, 146030401], [146031254, 146031392], [146031526, 146031596], [146032119, 146032216], [146033390, 146033480], [146038444, 146038566], [146041083, 146041305], [146042325, 146042385], [146042484, 146042543], [146042755, 146042965], [146044172, 146044283], [146044366, 146044509], [146044629, 146044752], [146046141, 146046253], [146048677, 146048725]] [[146025564, 146025667], [146026756, 146026842], [146029166, 146029264], [146030283, 146030401], [146031254, 146031392], [146031526, 146031596], [146032119, 146032216], [146033390, 146033480], [146038444, 146038566], [146041083, 146041305], [146042325, 146042385], [146042484, 146042543], [146042755, 146042758]]
ENST00000506506 [[146019465, 146019571], [146044172, 146044283], [146044366, 146044509], [146044629, 146044690]] None
ENST00000504292 [[146029178, 146029264], [146030283, 146030401], [146031254, 146031392], [146031526, 146031596], [146033390, 146033480], [146038444, 146038567]] [[146029178, 146029264], [146030283, 146030401], [146031254, 146031392], [146031526, 146031596], [146033390, 146033422]]
ENST00000515678 [[146042161, 146042385], [146042484, 146042543], [146044172, 146044283], [146044366, 146044509], [146044629, 146044842]] None
ENST00000509593 [[146042185, 146042543], [146044172, 146044283], [146044366, 146044479]] None
ENST00000510321 [[146042471, 146044283], [146044366, 146045083]] None
ENST00000504683 [[146044020, 146044283], [146044366, 146044509], [146044629, 146044752], [146046141, 146046253], [146048677, 146048795]] None
NM_001040876 [[146019155, 146019571], [146025540, 146025667], [146026756, 146026842], [146029166, 146029264], [146030283, 146030401], [146031254, 146031392], [146031526, 146031596], [146032119, 146032216], [146033390, 146033480], [146038444, 146038566], [146041083, 146041305], [146042325, 146042385], [146042484, 146042543], [146044172, 146044283], [146044366, 146044509], [146044629, 146044752], [146046141, 146046253], [146048677, 146050676]] [[146025564, 146025667], [146026756, 146026842], [146029166, 146029264], [146030283, 146030401], [146031254, 146031392], [146031526, 146031596], [146032119, 146032216], [146033390, 146033480], [146038444, 146038566], [146041083, 146041305], [146042325, 146042385], [146042484, 146042543], [146044172, 146044283], [146044366, 146044509], [146044629, 146044752], [146046141, 146046253], [146048677, 146048725]]
NM_002940 [[146019155, 146019571], [146025537, 146025667], [146026756, 146026842], [146029166, 146029264], [146030283, 146030401], [146031254, 146031392], [146031526, 146031596], [146032119, 146032216], [146033390, 146033480], [146038444, 146038566], [146041083, 146041305], [146042325, 146042385], [146042484, 146042543], [146044172, 146044283], [146044366, 146044509], [146044629, 146044752], [146046141, 146046253], [146048677, 146050676]] [[146025564, 146025667], [146026756, 146026842], [146029166, 146029264], [146030283, 146030401], [146031254, 146031392], [146031526, 146031596], [146032119, 146032216], [146033390, 146033480], [146038444, 146038566], [146041083, 146041305], [146042325, 146042385], [146042484, 146042543], [146044172, 146044283], [146044366, 146044509], [146044629, 146044752], [146046141, 146046253], [146048677, 146048725]]
Promoter
Chrom Start End Description
chr4 146019421 146019495 CAGE_peak_1_at_ABCE1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
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 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 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}]