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
ENST00000389554 [[162272604, 162273613], [162274186, 162274341], [162274711, 162274833], [162275402, 162275561], [162276706, 162276768], [162279879, 162282381]] [[162272921, 162273613], [162274186, 162274341], [162274711, 162274833], [162275402, 162275561], [162276706, 162276768], [162279879, 162280738]]
ENST00000463544 [[162272841, 162274341], [162274711, 162280396]] None
ENST00000411412 [[162274289, 162274341], [162274711, 162274833], [162275402, 162275561], [162276706, 162276768], [162279879, 162279997], [162280102, 162280287]] [[162274289, 162274341], [162274711, 162274833], [162275402, 162275561], [162276706, 162276768], [162279879, 162279997], [162280102, 162280287]]
ENST00000410035 [[162274405, 162274598], [162274711, 162274833], [162275402, 162275561], [162276706, 162276768], [162279879, 162280797]] [[162274725, 162274833], [162275402, 162275561], [162276706, 162276768], [162279879, 162280738]]
ENST00000477804 [[162275720, 162275802], [162276706, 162276768], [162279879, 162280196]] None
ENST00000489530 [[162276021, 162276430], [162276706, 162276768], [162279879, 162279966]] None
NM_006593 [[162272604, 162273613], [162274186, 162274341], [162274711, 162274833], [162275402, 162275561], [162276706, 162276768], [162279879, 162282378]] [[162272921, 162273613], [162274186, 162274341], [162274711, 162274833], [162275402, 162275561], [162276706, 162276768], [162279879, 162280738]]
Promoter
Chrom Start End Description
chr2 162272716 162272753 CAGE_peak_3_at_TBR1_5end
chr2 162272785 162272836 CAGE_peak_1_at_TBR1_5end
chr2 162272889 162272915 CAGE_peak_2_at_TBR1_5end
chr2 162272970 162272981 CAGE_peak_10_at_TBR1_5end
chr2 162272991 162273000 CAGE_peak_11_at_TBR1_5end
chr2 162273032 162273042 CAGE_peak_13_at_TBR1_5end
chr2 162273101 162273118 CAGE_peak_7_at_TBR1_5end
chr2 162273133 162273143 CAGE_peak_8_at_TBR1_5end
chr2 162273151 162273162 CAGE_peak_9_at_TBR1_5end
chr2 162273196 162273210 CAGE_peak_5_at_TBR1_5end
chr2 162273241 162273253 CAGE_peak_4_at_TBR1_5end
chr2 162273254 162273267 CAGE_peak_6_at_TBR1_5end
chr2 162273824 162273837 CAGE_peak_16_at_TBR1_5end
chr2 162273873 162273885 CAGE_peak_14_at_TBR1_5end
chr2 162273893 162273908 CAGE_peak_12_at_TBR1_5end
chr2 162273982 162273993 CAGE_peak_18_at_TBR1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I161683 161683566 161683635 0.22 [{'connected_gene': 'TBR1', 'score': 2.31}, {'connected_gene': 'KRT18P46', 'score': 0.15}, {'connected_gene': 'LOC105373722', 'score': 0.08}, {'connected_gene': 'SLC4A10', 'score': 0.07}]
chr2 GH02I161414 161414030 161415179 0.86 [{'connected_gene': 'TBR1', 'score': 550.77}, {'connected_gene': 'LINC01806', 'score': 27.11}, {'connected_gene': 'RNA5SP108', 'score': 0.44}]
chr2 GH02I161416 161416248 161416307 0.79 [{'connected_gene': 'TBR1', 'score': 550.77}, {'connected_gene': 'ENSG00000224076', 'score': 0.44}]
chr2 GH02I161423 161423039 161424842 0.43 [{'connected_gene': 'ENSG00000224076', 'score': 550.77}, {'connected_gene': 'SLC4A10', 'score': 550.77}, {'connected_gene': 'ENSG00000251621', 'score': 550.77}, {'connected_gene': 'LINC01806', 'score': 7.0}, {'connected_gene': 'TBR1', 'score': 0.44}]
chr2 GH02I161237 161237201 161239879 2.16 [{'connected_gene': 'GC02M161236', 'score': 550.77}, {'connected_gene': 'GC02M161238', 'score': 550.77}, {'connected_gene': 'TBR1', 'score': 13.64}, {'connected_gene': 'LINC01806', 'score': 11.22}, {'connected_gene': 'AHCTF1P1', 'score': 9.89}, {'connected_gene': 'SLC4A10', 'score': 3.31}, {'connected_gene': 'LOC101929512', 'score': 0.2}]

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