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
ENST00000278174 [[13409547, 13410688], [13424714, 13424825], [13427205, 13427403], [13435076, 13435197], [13438704, 13438807], [13441006, 13441292], [13443188, 13443385], [13466570, 13466728], [13484638, 13484827]] [[13410377, 13410688], [13424714, 13424825], [13427205, 13427403], [13435076, 13435197], [13438704, 13438807], [13441006, 13441292], [13443188, 13443385], [13466570, 13466671]]
ENST00000527102 [[13409570, 13410688], [13424714, 13424825], [13427205, 13427403], [13435076, 13435197], [13438793, 13438807], [13441006, 13441292], [13443188, 13443385], [13466570, 13466728], [13484638, 13484773]] [[13435186, 13435197], [13438793, 13438807], [13441006, 13441292], [13443188, 13443385], [13466570, 13466671]]
ENST00000530907 [[13410229, 13410688], [13424714, 13424825], [13427205, 13427403], [13435076, 13435197], [13438704, 13438807], [13441006, 13441292], [13443188, 13443385], [13461430, 13461826]] [[13410377, 13410688], [13424714, 13424825], [13427205, 13427403], [13435076, 13435197], [13438704, 13438807], [13441006, 13441292], [13443188, 13443385], [13461430, 13461555]]
ENST00000528120 [[13410248, 13410688], [13424714, 13424825], [13427205, 13427403], [13435076, 13435197], [13438704, 13438807], [13441006, 13441292], [13443188, 13443385], [13484638, 13484844]] [[13410377, 13410688], [13424714, 13424825], [13427205, 13427403], [13435076, 13435197], [13438704, 13438807], [13441006, 13441292], [13443188, 13443342]]
ENST00000525864 [[13426874, 13427403], [13435076, 13435197], [13438704, 13438807], [13441006, 13441292], [13443188, 13443385], [13484638, 13484727]] None
ENST00000525661 [[13427095, 13427403], [13435076, 13435197], [13438704, 13438807], [13441006, 13441292], [13443188, 13443385], [13461645, 13461755]] None
ENST00000525108 [[13427312, 13427403], [13435076, 13435197], [13438704, 13438807], [13441006, 13441292], [13443188, 13443362], [13466570, 13466728], [13484638, 13484844]] [[13443352, 13443362], [13466570, 13466671]]
ENST00000532261 [[13441039, 13441292], [13443188, 13443385], [13461645, 13461755]] None
ENST00000529708 [[13443288, 13443385], [13466570, 13466728], [13484168, 13484344], [13484638, 13484823]] [[13443288, 13443385], [13466570, 13466671]]
ENST00000526841 [[13443293, 13443385], [13466570, 13466728], [13484168, 13484344], [13484646, 13484728]] [[13443293, 13443385], [13466570, 13466671]]
ENST00000527858 [[13466711, 13466728], [13481212, 13481283], [13484638, 13484799]] None
NM_001297742 [[13409542, 13410688], [13424714, 13424825], [13427205, 13427403], [13435076, 13435197], [13438704, 13438807], [13441006, 13441292], [13443188, 13443385], [13461430, 13461826]] [[13410377, 13410688], [13424714, 13424825], [13427205, 13427403], [13435076, 13435197], [13438704, 13438807], [13441006, 13441292], [13443188, 13443385], [13461430, 13461555]]
NM_032320 [[13409542, 13410688], [13424714, 13424825], [13427205, 13427403], [13435076, 13435197], [13438704, 13438807], [13441006, 13441292], [13443188, 13443385], [13466570, 13466728], [13484638, 13484844]] [[13410377, 13410688], [13424714, 13424825], [13427205, 13427403], [13435076, 13435197], [13438704, 13438807], [13441006, 13441292], [13443188, 13443385], [13466570, 13466671]]
NM_001297741 [[13409542, 13410688], [13424714, 13424825], [13427205, 13427403], [13435076, 13435197], [13438704, 13438807], [13441006, 13441292], [13443188, 13443385], [13484638, 13484844]] [[13410377, 13410688], [13424714, 13424825], [13427205, 13427403], [13435076, 13435197], [13438704, 13438807], [13441006, 13441292], [13443188, 13443342]]
Promoter
Chrom Start End Description
chr11 13461601 13461620 CAGE_peak_5_at_BTBD10_5end
chr11 13461676 13461696 CAGE_peak_3_at_BTBD10_5end
chr11 13461767 13461787 CAGE_peak_4_at_BTBD10_5end
chr11 13461790 13461821 CAGE_peak_2_at_BTBD10_5end
chr11 13484713 13484850 CAGE_peak_1_at_BTBD10_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I013448 13448801 13449201 0.79 [{'connected_gene': 'BTBD10', 'score': 10.26}, {'connected_gene': 'PTH', 'score': 10.14}, {'connected_gene': 'GC11P013405', 'score': 0.26}]
chr11 GH11I013525 13525408 13525765 0.47 [{'connected_gene': 'BTBD10', 'score': 4.53}, {'connected_gene': 'GC11M013488', 'score': 0.34}, {'connected_gene': 'PIR42329', 'score': 0.26}]
chr11 GH11I013461 13461376 13464269 2.03 [{'connected_gene': 'BTBD10', 'score': 555.4}, {'connected_gene': 'GC11P013405', 'score': 0.22}]
chr11 GH11I013459 13459601 13459800 0.2 [{'connected_gene': 'BTBD10', 'score': 0.77}, {'connected_gene': 'GC11P013405', 'score': 0.23}]
chr11 GH11I013434 13434134 13435055 0.43 [{'connected_gene': 'BTBD10', 'score': 21.52}, {'connected_gene': 'GC11P013405', 'score': 0.31}]
chr11 GH11I013439 13439615 13441357 1.63 [{'connected_gene': 'BTBD10', 'score': 555.01}, {'connected_gene': 'GC11P013405', 'score': 0.29}]
chr11 GH11I013108 13108876 13112226 1.19 [{'connected_gene': 'LINC00958', 'score': 8.04}, {'connected_gene': 'BTBD10', 'score': 5.94}, {'connected_gene': 'LOC105376558', 'score': 0.77}, {'connected_gene': 'ENSG00000255558', 'score': 0.34}, {'connected_gene': 'GC11M013109', 'score': 0.25}, {'connected_gene': 'GC11P013015', 'score': 0.15}]
chr11 GH11I013104 13104527 13105911 0.98 [{'connected_gene': 'ENSG00000254847', 'score': 14.17}, {'connected_gene': 'BTBD10', 'score': 4.35}, {'connected_gene': 'LOC105376558', 'score': 0.44}, {'connected_gene': 'ENSG00000255558', 'score': 0.31}, {'connected_gene': 'GC11P013015', 'score': 0.17}]
chr11 GH11I013487 13487170 13487903 0.95 [{'connected_gene': 'ENSG00000255401', 'score': 550.77}, {'connected_gene': 'BTBD10', 'score': 10.56}, {'connected_gene': 'PIR60789', 'score': 0.44}]
chr11 GH11I013475 13475728 13476698 0.31 [{'connected_gene': 'ENSG00000254583', 'score': 0.77}, {'connected_gene': 'BTBD10', 'score': 0.39}]

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