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
ENST00000309733 [[113066552, 113066889], [113107848, 113116412]] [[113066736, 113066889], [113107848, 113108094]]
Promoter
Chrom Start End Description
chr4 113066552 113066563 CAGE_peak_3_at_C4orf32_5end
chr4 113066567 113066598 CAGE_peak_2_at_C4orf32_5end
chr4 113066602 113066620 CAGE_peak_1_at_C4orf32_5end
chr4 113066622 113066627 CAGE_peak_4_at_C4orf32_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I112282 112282560 112290146 2.5 [{'connected_gene': 'TIFA', 'score': 576.63}, {'connected_gene': 'ALPK1', 'score': 552.4}, {'connected_gene': 'FAM241A', 'score': 14.45}, {'connected_gene': 'AP1AR', 'score': 14.02}, {'connected_gene': 'LOC109864269', 'score': 13.4}, {'connected_gene': 'ENSG00000250966', 'score': 11.17}, {'connected_gene': 'RTEL1P1', 'score': 5.38}, {'connected_gene': 'LARP7', 'score': 2.98}, {'connected_gene': 'ZGRF1', 'score': 1.4}, {'connected_gene': 'GC04P112321', 'score': 0.28}]
chr4 GH04I112279 112279111 112280600 1.46 [{'connected_gene': 'TIFA', 'score': 20.7}, {'connected_gene': 'FAM241A', 'score': 10.52}, {'connected_gene': 'ENSG00000272567', 'score': 0.44}, {'connected_gene': 'ALPK1', 'score': 0.44}]
chr4 GH04I112276 112276642 112278687 0.77 [{'connected_gene': 'TIFA', 'score': 20.0}, {'connected_gene': 'FAM241A', 'score': 10.52}, {'connected_gene': 'ENSG00000272567', 'score': 0.77}, {'connected_gene': 'ALPK1', 'score': 0.44}]
chr4 GH04I112259 112259862 112260150 0.22 [{'connected_gene': 'TIFA', 'score': 17.58}, {'connected_gene': 'FAM241A', 'score': 10.56}, {'connected_gene': 'LOC105377372', 'score': 9.89}, {'connected_gene': 'NEUROG2', 'score': 9.89}, {'connected_gene': 'ZGRF1', 'score': 5.02}, {'connected_gene': 'AP1AR', 'score': 4.71}, {'connected_gene': 'ENSG00000272567', 'score': 0.39}]
chr4 GH04I112141 112141201 112141400 0.31 [{'connected_gene': 'ZGRF1', 'score': 4.64}, {'connected_gene': 'FAM241A', 'score': 0.77}, {'connected_gene': 'LOC105377370', 'score': 0.39}]
chr4 GH04I112082 112082416 112085863 1.27 [{'connected_gene': 'FAM241A', 'score': 16.69}, {'connected_gene': 'TIFA', 'score': 2.01}, {'connected_gene': 'TUBB8P3', 'score': 0.44}, {'connected_gene': 'RPS12P8', 'score': 0.29}]
chr4 GH04I112213 112213708 112215000 0.84 [{'connected_gene': 'FAM241A', 'score': 19.03}, {'connected_gene': 'TIFA', 'score': 4.47}, {'connected_gene': 'ENSG00000260526', 'score': 0.37}, {'connected_gene': 'GC04P112172', 'score': 0.26}]
chr4 GH04I112251 112251183 112251555 0.25 [{'connected_gene': 'FAM241A', 'score': 10.39}, {'connected_gene': 'NEUROG2', 'score': 1.4}, {'connected_gene': 'AP1AR', 'score': 0.37}, {'connected_gene': 'ENSG00000272567', 'score': 0.34}]
chr4 GH04I111990 111990991 111992517 1.22 [{'connected_gene': 'FAM241A', 'score': 14.58}, {'connected_gene': 'AP1AR', 'score': 2.61}, {'connected_gene': 'TIFA', 'score': 1.61}, {'connected_gene': 'PIR60785', 'score': 0.39}, {'connected_gene': 'ENSG00000249815', 'score': 0.18}, {'connected_gene': 'LOC105377369', 'score': 0.11}]
chr4 GH04I111989 111989669 111990594 0.2 [{'connected_gene': 'FAM241A', 'score': 12.15}, {'connected_gene': 'AP1AR', 'score': 8.36}, {'connected_gene': 'PIR60785', 'score': 0.39}, {'connected_gene': 'ENSG00000249815', 'score': 0.18}, {'connected_gene': 'LOC105377369', 'score': 0.11}]
chr4 GH04I112270 112270258 112271973 0.77 [{'connected_gene': 'FAM241A', 'score': 10.41}, {'connected_gene': 'ENSG00000272567', 'score': 0.77}, {'connected_gene': 'AP1AR', 'score': 0.28}]
chr4 GH04I112144 112144807 112148138 2.19 [{'connected_gene': 'FAM241A', 'score': 578.8}, {'connected_gene': 'ZGRF1', 'score': 5.53}, {'connected_gene': 'TIFA', 'score': 4.23}, {'connected_gene': 'LARP7', 'score': 3.26}, {'connected_gene': 'AP1AR', 'score': 3.23}, {'connected_gene': 'RPL36AP19', 'score': 0.34}]
chr4 GH04I112112 112112095 112114060 1.16 [{'connected_gene': 'FAM241A', 'score': 17.62}, {'connected_gene': 'ZGRF1', 'score': 4.48}, {'connected_gene': 'RPS12P8', 'score': 0.77}, {'connected_gene': 'TUBB8P3', 'score': 0.28}]
chr4 GH04I112153 112153137 112153806 1 [{'connected_gene': 'FAM241A', 'score': 18.52}, {'connected_gene': 'ZGRF1', 'score': 4.47}, {'connected_gene': 'RPL36AP19', 'score': 0.37}]
chr4 GH04I112167 112167225 112168842 0.65 [{'connected_gene': 'FAM241A', 'score': 17.88}, {'connected_gene': 'ZGRF1', 'score': 5.16}, {'connected_gene': 'RPL36AP19', 'score': 0.77}]
chr4 GH04I112099 112099785 112099914 0.74 [{'connected_gene': 'FAM241A', 'score': 11.85}, {'connected_gene': 'RPS12P8', 'score': 0.37}, {'connected_gene': 'TUBB8P3', 'score': 0.34}]
chr4 GH04I112100 112100025 112100114 0.72 [{'connected_gene': 'FAM241A', 'score': 28.3}, {'connected_gene': 'RPS12P8', 'score': 0.37}, {'connected_gene': 'TUBB8P3', 'score': 0.34}]
chr4 GH04I112127 112127601 112127800 0.31 [{'connected_gene': 'FAM241A', 'score': 26.95}, {'connected_gene': 'LOC105377370', 'score': 0.77}, {'connected_gene': 'RPS12P8', 'score': 0.39}]
chr4 GH04I111959 111959200 111959601 0.72 [{'connected_gene': 'FAM241A', 'score': 8.23}, {'connected_gene': 'PIR60785', 'score': 0.26}, {'connected_gene': 'ENSG00000249815', 'score': 0.14}, {'connected_gene': 'LOC105377369', 'score': 0.14}]
chr4 GH04I111961 111960485 111960634 0.72 [{'connected_gene': 'FAM241A', 'score': 8.53}, {'connected_gene': 'PIR60785', 'score': 0.26}, {'connected_gene': 'ENSG00000249815', 'score': 0.14}, {'connected_gene': 'LOC105377369', 'score': 0.14}]
chr4 GH04I111985 111985414 111986567 0.31 [{'connected_gene': 'FAM241A', 'score': 9.34}, {'connected_gene': 'PIR60785', 'score': 0.37}, {'connected_gene': 'ENSG00000249815', 'score': 0.17}, {'connected_gene': 'LOC105377369', 'score': 0.12}]
chr4 GH04I112214 112213201 112213600 0.38 [{'connected_gene': 'FAM241A', 'score': 11.24}, {'connected_gene': 'ENSG00000260526', 'score': 0.37}, {'connected_gene': 'GC04P112172', 'score': 0.26}]
chr4 GH04I112224 112224085 112224523 0.2 [{'connected_gene': 'FAM241A', 'score': 11.14}, {'connected_gene': 'ENSG00000260526', 'score': 0.44}, {'connected_gene': 'GC04P112172', 'score': 0.23}]
chr4 GH04I111209 111209820 111211229 0.2 [{'connected_gene': 'FAM241A', 'score': 4.57}, {'connected_gene': 'GC04P111204', 'score': 0.44}, {'connected_gene': 'GC04P111332', 'score': 0.13}]
chr4 GH04I112199 112199145 112199294 0.57 [{'connected_gene': 'FAM241A', 'score': 11.5}, {'connected_gene': 'GC04P112172', 'score': 0.31}, {'connected_gene': 'ENSG00000260526', 'score': 0.29}]
chr4 GH04I112272 112272865 112274442 0.89 [{'connected_gene': 'ENSG00000272567', 'score': 550.77}, {'connected_gene': 'TIFA', 'score': 18.9}, {'connected_gene': 'FAM241A', 'score': 10.41}, {'connected_gene': 'ALPK1', 'score': 0.39}]
chr4 GH04I112173 112173490 112175052 0.75 [{'connected_gene': 'GC04P112172', 'score': 0.77}, {'connected_gene': 'FAM241A', 'score': 0.31}, {'connected_gene': 'ENSG00000260526', 'score': 0.22}]
chr4 GH04I112168 112168865 112171695 1.12 [{'connected_gene': 'GC04P112172', 'score': 550.77}, {'connected_gene': 'RPL36AP19', 'score': 550.77}, {'connected_gene': 'FAM241A', 'score': 26.62}, {'connected_gene': 'TIFA', 'score': 4.15}]