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
ENST00000339566 [[74056085, 74056123], [74057971, 74058186], [74071939, 74072015], [74072293, 74072389], [74074513, 74074880], [74076489, 74076614], [74077502, 74077640], [74086380, 74086493], [74087178, 74087278], [74089329, 74090010]] [[74057983, 74058186], [74071939, 74072015], [74072293, 74072389], [74074513, 74074880], [74076489, 74076614], [74077502, 74077640], [74086380, 74086493], [74087178, 74087278], [74089329, 74089386]]
ENST00000409707 [[74056088, 74056123], [74057971, 74058186], [74071939, 74072015], [74072293, 74072389], [74074513, 74074880], [74076489, 74076614], [74077502, 74077640], [74086380, 74086493], [74087178, 74087278], [74089329, 74089431], [74100478, 74100760]] [[74057983, 74058186], [74071939, 74072015], [74072293, 74072389], [74074513, 74074880], [74076489, 74076614], [74077502, 74077640], [74086380, 74086493], [74087178, 74087278], [74089329, 74089386]]
ENST00000452725 [[74056093, 74056123], [74056531, 74056637], [74057971, 74058186], [74071939, 74072015], [74072293, 74072389], [74074513, 74074550]] [[74057983, 74058186], [74071939, 74072015], [74072293, 74072389], [74074513, 74074550]]
ENST00000432295 [[74056113, 74056197], [74056531, 74056637], [74057971, 74058186], [74071939, 74072015], [74072293, 74072389], [74074513, 74074880], [74076489, 74076614], [74077502, 74077589]] [[74057983, 74058186], [74071939, 74072015], [74072293, 74072389], [74074513, 74074880], [74076489, 74076614], [74077502, 74077589]]
ENST00000424659 [[74056116, 74056197], [74057971, 74058186], [74071939, 74072015], [74072293, 74072389], [74074513, 74074628]] [[74057983, 74058186], [74071939, 74072015], [74072293, 74072389], [74074513, 74074628]]
ENST00000394073 [[74056126, 74056197], [74056531, 74056637], [74057971, 74058186], [74071939, 74072015], [74072293, 74072389], [74074513, 74074880], [74076489, 74076614], [74077502, 74077640], [74086380, 74086493], [74087178, 74087278], [74089329, 74090010]] [[74057983, 74058186], [74071939, 74072015], [74072293, 74072389], [74074513, 74074880], [74076489, 74076614], [74077502, 74077640], [74086380, 74086493], [74087178, 74087278], [74089329, 74089386]]
ENST00000394070 [[74056146, 74056637], [74057971, 74058186], [74071939, 74072015], [74072293, 74072389], [74074513, 74074880], [74076489, 74076614], [74077502, 74077640], [74086380, 74086493], [74087178, 74087278], [74089329, 74094299]] [[74057983, 74058186], [74071939, 74072015], [74072293, 74072389], [74074513, 74074880], [74076489, 74076614], [74077502, 74077640], [74086380, 74086493], [74087178, 74087278], [74089329, 74089386]]
ENST00000536064 [[74056157, 74056197], [74056531, 74056637], [74057971, 74058186], [74071939, 74072015], [74072293, 74072389], [74074513, 74074699], [74076489, 74076615]] [[74057983, 74058186], [74071939, 74072015], [74072293, 74072389], [74074513, 74074699], [74076489, 74076558]]
ENST00000478946 [[74071760, 74072163], [74072293, 74072389], [74074513, 74074880], [74076489, 74076578]] None
ENST00000486458 [[74077501, 74077640], [74086380, 74086493], [74087178, 74087278], [74087660, 74087716], [74089329, 74089933]] None
ENST00000487811 [[74087203, 74087278], [74089329, 74089431], [74097269, 74097479], [74100478, 74100786]] None
NM_201647 [[74056042, 74056123], [74057971, 74058186], [74071939, 74072015], [74072293, 74072389], [74074513, 74074880], [74076489, 74076614], [74077502, 74077640], [74086380, 74086493], [74087178, 74087278], [74089329, 74094295]] [[74057983, 74058186], [74071939, 74072015], [74072293, 74072389], [74074513, 74074880], [74076489, 74076614], [74077502, 74077640], [74086380, 74086493], [74087178, 74087278], [74089329, 74089386]]
NM_006463 [[74056113, 74056197], [74056531, 74056637], [74057971, 74058186], [74071939, 74072015], [74072293, 74072389], [74074513, 74074880], [74076489, 74076614], [74077502, 74077640], [74086380, 74086493], [74087178, 74087278], [74089329, 74094295]] [[74057983, 74058186], [74071939, 74072015], [74072293, 74072389], [74074513, 74074880], [74076489, 74076614], [74077502, 74077640], [74086380, 74086493], [74087178, 74087278], [74089329, 74089386]]
NM_213622 [[74056124, 74056637], [74057971, 74058186], [74071939, 74072015], [74072293, 74072389], [74074513, 74074880], [74076489, 74076614], [74077502, 74077640], [74086380, 74086493], [74087178, 74087278], [74089329, 74094295]] [[74057983, 74058186], [74071939, 74072015], [74072293, 74072389], [74074513, 74074880], [74076489, 74076614], [74077502, 74077640], [74086380, 74086493], [74087178, 74087278], [74089329, 74089386]]
Promoter
Chrom Start End Description
chr2 74056066 74056135 CAGE_peak_1_at_STAMBP_5end
chr2 74056150 74056159 CAGE_peak_2_at_STAMBP_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I073851 73851114 73852775 0.75 [{'connected_gene': 'PCGF1', 'score': 13.27}, {'connected_gene': 'WBP1', 'score': 11.03}, {'connected_gene': 'DUSP11', 'score': 11.01}, {'connected_gene': 'INO80B', 'score': 10.8}, {'connected_gene': 'ENSG00000273245', 'score': 9.99}, {'connected_gene': 'TTC31', 'score': 9.94}, {'connected_gene': 'TPRKB', 'score': 4.69}, {'connected_gene': 'LOC105374806', 'score': 0.44}, {'connected_gene': 'LOC105374807', 'score': 0.34}, {'connected_gene': 'STAMBP', 'score': 0.34}]
chr2 GH02I073759 73759269 73760094 0.46 [{'connected_gene': 'DUSP11', 'score': 11.79}, {'connected_gene': 'C2orf78', 'score': 11.79}, {'connected_gene': 'TPRKB', 'score': 11.18}, {'connected_gene': 'STAMBP', 'score': 10.66}, {'connected_gene': 'TET3', 'score': 10.05}, {'connected_gene': 'BOLA3', 'score': 9.76}, {'connected_gene': 'BOLA3-AS1', 'score': 9.76}, {'connected_gene': 'ENSG00000280037', 'score': 0.77}, {'connected_gene': 'ENSG00000273245', 'score': 0.44}]
chr2 GH02I073839 73839000 73839401 0.58 [{'connected_gene': 'ACTG2', 'score': 11.09}, {'connected_gene': 'TET3', 'score': 10.64}, {'connected_gene': 'BOLA3', 'score': 10.24}, {'connected_gene': 'BOLA3-AS1', 'score': 10.24}, {'connected_gene': 'LOC107985899', 'score': 9.93}, {'connected_gene': 'SLC4A5', 'score': 8.89}, {'connected_gene': 'TPRKB', 'score': 5.12}, {'connected_gene': 'LOC105374807', 'score': 0.44}, {'connected_gene': 'STAMBP', 'score': 0.39}, {'connected_gene': 'LOC105374806', 'score': 0.37}]
chr2 GH02I073841 73841488 73843482 0.84 [{'connected_gene': 'ACTG2', 'score': 11.11}, {'connected_gene': 'TET3', 'score': 10.64}, {'connected_gene': 'BOLA3', 'score': 10.24}, {'connected_gene': 'BOLA3-AS1', 'score': 10.24}, {'connected_gene': 'LOC107985899', 'score': 9.93}, {'connected_gene': 'SLC4A5', 'score': 8.89}, {'connected_gene': 'STAMBP', 'score': 8.26}, {'connected_gene': 'ALMS1P1', 'score': 5.92}, {'connected_gene': 'LOC105374807', 'score': 0.39}, {'connected_gene': 'LOC105374806', 'score': 0.37}]
chr2 GH02I073838 73838001 73838800 0.69 [{'connected_gene': 'ACTG2', 'score': 11.09}, {'connected_gene': 'TET3', 'score': 10.64}, {'connected_gene': 'BOLA3', 'score': 10.24}, {'connected_gene': 'BOLA3-AS1', 'score': 10.24}, {'connected_gene': 'LOC107985899', 'score': 9.93}, {'connected_gene': 'SLC4A5', 'score': 8.89}, {'connected_gene': 'LOC105374807', 'score': 0.44}, {'connected_gene': 'STAMBP', 'score': 0.44}, {'connected_gene': 'LOC105374806', 'score': 0.37}]
chr2 GH02I073869 73869778 73871177 0.78 [{'connected_gene': 'ACTG2', 'score': 12.87}, {'connected_gene': 'DGUOK', 'score': 11.45}, {'connected_gene': 'BOLA3', 'score': 10.19}, {'connected_gene': 'BOLA3-AS1', 'score': 10.19}, {'connected_gene': 'STAMBP', 'score': 8.19}, {'connected_gene': 'HTRA2', 'score': 4.21}, {'connected_gene': 'LOC100420774', 'score': 0.44}, {'connected_gene': 'LOC105374806', 'score': 0.39}]
chr2 GH02I073921 73921314 73921463 0.96 [{'connected_gene': 'ACTG2', 'score': 11.46}, {'connected_gene': 'STAMBP', 'score': 11.32}, {'connected_gene': 'BOLA3', 'score': 10.23}, {'connected_gene': 'BOLA3-AS1', 'score': 10.23}, {'connected_gene': 'GC02M073905', 'score': 0.44}, {'connected_gene': 'DGUOK', 'score': 0.44}]
chr2 GH02I073892 73892168 73895330 1.69 [{'connected_gene': 'ACTG2', 'score': 562.36}, {'connected_gene': 'STAMBP', 'score': 15.71}, {'connected_gene': 'DGUOK', 'score': 11.42}, {'connected_gene': 'TET3', 'score': 10.43}, {'connected_gene': 'BOLA3', 'score': 10.22}, {'connected_gene': 'BOLA3-AS1', 'score': 10.22}, {'connected_gene': 'TPRKB', 'score': 9.75}, {'connected_gene': 'HTRA2', 'score': 5.62}, {'connected_gene': 'MOB1A', 'score': 4.9}, {'connected_gene': 'ALMS1', 'score': 4.55}, {'connected_gene': 'GC02M073905', 'score': 0.37}]
chr2 GH02I073886 73886969 73888320 0.63 [{'connected_gene': 'HTRA2', 'score': 5.42}, {'connected_gene': 'STAMBP', 'score': 5.22}, {'connected_gene': 'ACTG2', 'score': 0.77}, {'connected_gene': 'LOC100420774', 'score': 0.39}]
chr2 GH02I073821 73821410 73821526 0.7 [{'connected_gene': 'WBP1', 'score': 15.06}, {'connected_gene': 'SMYD5', 'score': 11.46}, {'connected_gene': 'ENSG00000159239', 'score': 10.22}, {'connected_gene': 'ALMS1', 'score': 9.97}, {'connected_gene': 'MOB1A', 'score': 2.06}, {'connected_gene': 'MTHFD2', 'score': 1.76}, {'connected_gene': 'LOC105374807', 'score': 0.44}, {'connected_gene': 'STAMBP', 'score': 0.44}, {'connected_gene': 'C2orf78', 'score': 0.28}]
chr2 GH02I073934 73934996 73936946 0.2 [{'connected_gene': 'TET3', 'score': 11.47}, {'connected_gene': 'ACTG2', 'score': 10.66}, {'connected_gene': 'BOLA3', 'score': 10.05}, {'connected_gene': 'BOLA3-AS1', 'score': 10.05}, {'connected_gene': 'STAMBP', 'score': 10.04}, {'connected_gene': 'DGUOK-AS1', 'score': 4.34}, {'connected_gene': 'DGUOK', 'score': 0.44}, {'connected_gene': 'GC02M073969', 'score': 0.29}]
chr2 GH02I074091 74091548 74092893 0.2 [{'connected_gene': 'TET3', 'score': 11.61}, {'connected_gene': 'BOLA3', 'score': 11.26}, {'connected_gene': 'BOLA3-AS1', 'score': 11.26}, {'connected_gene': 'STAMBP', 'score': 11.07}, {'connected_gene': 'LOC107985899', 'score': 10.93}, {'connected_gene': 'ACTG2', 'score': 10.21}, {'connected_gene': 'DGUOK-AS1', 'score': 6.53}, {'connected_gene': 'FNBP1P1', 'score': 0.31}, {'connected_gene': 'ENSG00000279181', 'score': 0.16}]
chr2 GH02I074035 74035801 74039239 1.33 [{'connected_gene': 'TET3', 'score': 12.73}, {'connected_gene': 'STAMBP', 'score': 11.06}, {'connected_gene': 'BOLA3', 'score': 10.73}, {'connected_gene': 'BOLA3-AS1', 'score': 10.73}, {'connected_gene': 'ACTG2', 'score': 10.7}, {'connected_gene': 'LOC107985899', 'score': 10.28}, {'connected_gene': 'DGUOK-AS1', 'score': 5.34}, {'connected_gene': 'ENSG00000279181', 'score': 0.28}, {'connected_gene': 'FNBP1P1', 'score': 0.18}]
chr2 GH02I073925 73925266 73928800 2.51 [{'connected_gene': 'DGUOK', 'score': 550.77}, {'connected_gene': 'ACTG2', 'score': 11.44}, {'connected_gene': 'STAMBP', 'score': 11.32}, {'connected_gene': 'BOLA3', 'score': 10.23}, {'connected_gene': 'BOLA3-AS1', 'score': 10.23}, {'connected_gene': 'DGUOK-AS1', 'score': 4.95}, {'connected_gene': 'GC02M073969', 'score': 0.26}]
chr2 GH02I073926 73925074 73925223 0.31 [{'connected_gene': 'DGUOK', 'score': 550.77}, {'connected_gene': 'ACTG2', 'score': 11.44}, {'connected_gene': 'STAMBP', 'score': 11.32}, {'connected_gene': 'BOLA3', 'score': 10.23}, {'connected_gene': 'BOLA3-AS1', 'score': 10.23}, {'connected_gene': 'GC02M073905', 'score': 0.39}]
chr2 GH02I073895 73895934 73897655 1.05 [{'connected_gene': 'DGUOK', 'score': 11.42}, {'connected_gene': 'TET3', 'score': 10.43}, {'connected_gene': 'STAMBP', 'score': 10.32}, {'connected_gene': 'BOLA3', 'score': 10.22}, {'connected_gene': 'BOLA3-AS1', 'score': 10.22}, {'connected_gene': 'TPRKB', 'score': 9.75}, {'connected_gene': 'ALMS1-IT1', 'score': 4.64}, {'connected_gene': 'SMYD5', 'score': 4.28}, {'connected_gene': 'ACTG2', 'score': 0.77}, {'connected_gene': 'GC02M073905', 'score': 0.37}]
chr2 GH02I073993 73993801 73994000 0.63 [{'connected_gene': 'STAMBP', 'score': 10.61}, {'connected_gene': 'ACTG2', 'score': 10.31}, {'connected_gene': 'BOLA3', 'score': 10.21}, {'connected_gene': 'BOLA3-AS1', 'score': 10.21}, {'connected_gene': 'LOC107985899', 'score': 10.06}, {'connected_gene': 'ENSG00000279181', 'score': 0.77}, {'connected_gene': 'PIR31933', 'score': 0.44}, {'connected_gene': 'TET3', 'score': 0.39}]
chr2 GH02I073991 73991166 73992497 0.43 [{'connected_gene': 'STAMBP', 'score': 10.61}, {'connected_gene': 'ACTG2', 'score': 10.32}, {'connected_gene': 'BOLA3', 'score': 10.21}, {'connected_gene': 'BOLA3-AS1', 'score': 10.21}, {'connected_gene': 'LOC107985899', 'score': 10.06}, {'connected_gene': 'PIR31933', 'score': 0.77}, {'connected_gene': 'ENSG00000279181', 'score': 0.44}, {'connected_gene': 'TET3', 'score': 0.44}]
chr2 GH02I073828 73828098 73832063 2.23 [{'connected_gene': 'STAMBP', 'score': 558.64}, {'connected_gene': 'LOC105374807', 'score': 550.77}, {'connected_gene': 'TPRKB', 'score': 6.31}, {'connected_gene': 'ALMS1P1', 'score': 5.14}]
chr2 GH02I073824 73824054 73824203 0.68 [{'connected_gene': 'STAMBP', 'score': 0.77}, {'connected_gene': 'LOC105374807', 'score': 0.44}, {'connected_gene': 'C2orf78', 'score': 0.28}]
chr2 GH02I073848 73848844 73850867 0.38 [{'connected_gene': 'STAMBP', 'score': 8.21}, {'connected_gene': 'LOC105374806', 'score': 0.44}, {'connected_gene': 'LOC105374807', 'score': 0.37}]
chr2 GH02I073832 73832596 73833452 1 [{'connected_gene': 'LOC105374807', 'score': 0.77}, {'connected_gene': 'STAMBP', 'score': 0.77}, {'connected_gene': 'LOC105374806', 'score': 0.31}]
chr2 GH02I073857 73856952 73857122 0.28 [{'connected_gene': 'LOC105374806', 'score': 550.77}, {'connected_gene': 'SLC4A5', 'score': 59.73}, {'connected_gene': 'ALMS1', 'score': 2.5}, {'connected_gene': 'LOC105374807', 'score': 0.31}, {'connected_gene': 'STAMBP', 'score': 0.31}]
chr2 GH02I073856 73856294 73856463 0.31 [{'connected_gene': 'LOC105374806', 'score': 550.77}, {'connected_gene': 'LOC105374807', 'score': 0.31}, {'connected_gene': 'STAMBP', 'score': 0.31}]
chr2 GH02I073859 73859834 73860003 0.57 [{'connected_gene': 'LOC105374806', 'score': 550.77}, {'connected_gene': 'LOC100420774', 'score': 0.37}, {'connected_gene': 'STAMBP', 'score': 0.29}]
chr2 GH02I073877 73877201 73878000 0.84 [{'connected_gene': 'LOC100420774', 'score': 550.77}, {'connected_gene': 'STAMBP', 'score': 16.72}, {'connected_gene': 'DGUOK', 'score': 11.25}, {'connected_gene': 'TET3', 'score': 10.72}, {'connected_gene': 'BOLA3', 'score': 9.87}, {'connected_gene': 'BOLA3-AS1', 'score': 9.87}, {'connected_gene': 'ACTG2', 'score': 0.39}]

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