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
ENST00000264071 [[6494329, 6496232], [6501297, 6501408], [6501525, 6501634], [6502166, 6502595]] [[6495174, 6496232], [6501297, 6501408], [6501525, 6501634], [6502166, 6502223]]
ENST00000540257 [[6494331, 6494677], [6494712, 6496232], [6501297, 6501408], [6501525, 6501634], [6502166, 6502304]] [[6495174, 6496232], [6501297, 6501408], [6501525, 6501634], [6502166, 6502223]]
ENST00000594276 [[6495732, 6496038], [6501532, 6501634], [6502166, 6502320]] [[6495732, 6496038], [6501532, 6501634], [6502166, 6502223]]
ENST00000594075 [[6495817, 6496140], [6501532, 6501634], [6502166, 6502320]] [[6495817, 6496140], [6501532, 6501634], [6502166, 6502223]]
ENST00000600216 [[6495818, 6496185], [6501625, 6501634], [6502166, 6502320]] [[6495818, 6496185], [6501625, 6501634], [6502166, 6502223]]
ENST00000595324 [[6495915, 6496232], [6500938, 6501408], [6501525, 6501634], [6502166, 6502320]] [[6501244, 6501408], [6501525, 6501634], [6502166, 6502223]]
ENST00000601152 [[6495969, 6496232], [6501297, 6501408], [6501525, 6501591], [6502199, 6502349]] [[6496151, 6496232], [6501297, 6501408], [6501525, 6501591], [6502199, 6502223]]
ENST00000598006 [[6496026, 6496232], [6501297, 6501408], [6501525, 6501591], [6502166, 6502348]] [[6496151, 6496232], [6501297, 6501408], [6501525, 6501591], [6502166, 6502223]]
ENST00000596291 [[6496071, 6496232], [6501297, 6501408], [6501525, 6501798]] [[6496071, 6496232], [6501297, 6501358]]
ENST00000597686 [[6496141, 6496232], [6501297, 6501408], [6501525, 6501634], [6502166, 6502325], [6502689, 6502855]] [[6496141, 6496232], [6501297, 6501408], [6501525, 6501634], [6502166, 6502325], [6502689, 6502722]]
ENST00000596926 [[6496152, 6496232], [6496380, 6496474], [6501297, 6501408], [6501525, 6501634], [6502166, 6502320]] [[6496418, 6496474], [6501297, 6501408], [6501525, 6501634], [6502166, 6502223]]
ENST00000594290 [[6496180, 6496232], [6500626, 6500753], [6501297, 6501408], [6501525, 6501634], [6502166, 6502320]] [[6500718, 6500753], [6501297, 6501408], [6501525, 6501634], [6502166, 6502223]]
ENST00000601640 [[6496186, 6496232], [6501297, 6501408], [6501525, 6501634], [6502166, 6502273], [6502689, 6502859]] [[6496186, 6496232], [6501297, 6501408], [6501525, 6501634], [6502166, 6502223]]
ENST00000598635 [[6496189, 6496232], [6501297, 6501408], [6501525, 6501634], [6502166, 6502343], [6502689, 6502814]] [[6496189, 6496232], [6501297, 6501408], [6501525, 6501634], [6502166, 6502343], [6502689, 6502722]]
NM_006087 [[6494329, 6496232], [6501297, 6501408], [6501525, 6501634], [6502166, 6502595]] [[6495174, 6496232], [6501297, 6501408], [6501525, 6501634], [6502166, 6502223]]
NM_001289130 [[6494329, 6496232], [6501297, 6501408], [6501525, 6501591], [6502166, 6502595]] [[6495174, 6496232], [6501297, 6501358]]
NM_001289131 [[6494329, 6496232], [6501297, 6501408], [6501525, 6501591], [6502199, 6502595]] [[6495174, 6496232], [6501297, 6501358]]
NM_001289123 [[6494329, 6496232], [6501297, 6501408], [6501525, 6501634], [6502166, 6502343], [6502689, 6502859]] [[6495174, 6496232], [6501297, 6501408], [6501525, 6501634], [6502166, 6502343], [6502689, 6502722]]
NM_001289127 [[6494329, 6496232], [6501297, 6501408], [6501525, 6501634], [6502166, 6502325], [6502689, 6502859]] [[6495174, 6496232], [6501297, 6501408], [6501525, 6501634], [6502166, 6502325], [6502689, 6502722]]
NM_001289129 [[6494329, 6496232], [6501297, 6501408], [6501525, 6501634], [6502166, 6502273], [6502689, 6502859]] [[6495174, 6496232], [6501297, 6501408], [6501525, 6501634], [6502166, 6502223]]
Promoter
Chrom Start End Description
chr19 6502312 6502328 CAGE_peak_1_at_TUBB4A_5end
chr19 6502341 6502352 CAGE_peak_2_at_TUBB4A_5end
chr19 6502544 6502559 CAGE_peak_3_at_TUBB4A_5end
chr19 6502590 6502613 CAGE_peak_4_at_TUBB4A_5end
chr19 6502631 6502653 CAGE_peak_5_at_TUBB4A_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I006517 6517730 6518821 1.45 [{'connected_gene': 'CD70', 'score': 7.64}, {'connected_gene': 'TNFSF9', 'score': 3.65}, {'connected_gene': 'RFX2', 'score': 1.51}, {'connected_gene': 'TUBB4A', 'score': 0.37}]
chr19 GH19I006513 6513860 6514662 0.31 [{'connected_gene': 'TNFSF9', 'score': 0.39}, {'connected_gene': 'TUBB4A', 'score': 0.39}]
chr19 GH19I006521 6521633 6523063 1.08 [{'connected_gene': 'TNFSF9', 'score': 0.44}, {'connected_gene': 'TUBB4A', 'score': 0.37}]
chr19 GH19I006519 6519430 6519579 0.59 [{'connected_gene': 'TNFSF9', 'score': 0.44}, {'connected_gene': 'TUBB4A', 'score': 0.37}]
chr19 GH19I006515 6515610 6517659 1.44 [{'connected_gene': 'KHSRP', 'score': 59.51}, {'connected_gene': 'SNRPEP4', 'score': 53.17}, {'connected_gene': 'DUS3L', 'score': 45.99}, {'connected_gene': 'ENSG00000267571', 'score': 35.15}, {'connected_gene': 'ZNF557', 'score': 35.0}, {'connected_gene': 'VMAC', 'score': 17.21}, {'connected_gene': 'GPR108', 'score': 14.44}, {'connected_gene': 'SAFB2', 'score': 12.27}, {'connected_gene': 'RANBP3', 'score': 11.94}, {'connected_gene': 'SAFB', 'score': 10.33}, {'connected_gene': 'SLC25A23', 'score': 5.19}, {'connected_gene': 'TUBB4A', 'score': 0.39}, {'connected_gene': 'TNFSF9', 'score': 0.39}]
chr19 GH19I006504 6504601 6505176 1.29 [{'connected_gene': 'ZNF557', 'score': 21.81}, {'connected_gene': 'DUS3L', 'score': 19.3}, {'connected_gene': 'KHSRP', 'score': 14.06}, {'connected_gene': 'SAFB', 'score': 13.01}, {'connected_gene': 'RANBP3', 'score': 12.04}, {'connected_gene': 'ENSG00000267571', 'score': 10.46}, {'connected_gene': 'SLC25A41', 'score': 5.0}, {'connected_gene': 'TUBB4A', 'score': 0.77}, {'connected_gene': 'TNFSF9', 'score': 0.34}]
chr19 GH19I006510 6510346 6511379 0.2 [{'connected_gene': 'TUBB4A', 'score': 0.44}, {'connected_gene': 'TNFSF9', 'score': 0.37}]
chr19 GH19I006509 6509124 6510174 1.21 [{'connected_gene': 'TUBB4A', 'score': 0.44}, {'connected_gene': 'TNFSF9', 'score': 0.37}]
chr19 GH19I006473 6473508 6474290 0.31 [{'connected_gene': 'TUBB4A', 'score': 5.37}, {'connected_gene': 'SLC25A23', 'score': 5.13}, {'connected_gene': 'ENSG00000275234', 'score': 0.77}, {'connected_gene': 'DENND1C', 'score': 0.44}]
chr19 GH19I006500 6500998 6503019 1.74 [{'connected_gene': 'TUBB4A', 'score': 550.77}, {'connected_gene': 'SLC25A41', 'score': 4.79}, {'connected_gene': 'ENSG00000268203', 'score': 0.44}, {'connected_gene': 'ENSG00000268191', 'score': 0.44}]
chr19 GH19I006498 6498510 6499301 0.83 [{'connected_gene': 'ENSG00000268203', 'score': 0.77}, {'connected_gene': 'ENSG00000268191', 'score': 0.77}, {'connected_gene': 'TUBB4A', 'score': 0.77}]

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