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
ENST00000248484 [[24144508, 24144987], [24164288, 24164391], [24167483, 24167594], [24190005, 24190184], [24200845, 24200931], [24233188, 24233353], [24234503, 24234629], [24242118, 24242221], [24242830, 24243236], [24247510, 24249028]] [[24164322, 24164391], [24167483, 24167594], [24190005, 24190184], [24200845, 24200931], [24233188, 24233353], [24234503, 24234629], [24242118, 24242221], [24242830, 24243236], [24247510, 24247519]]
ENST00000382263 [[24153518, 24153668], [24164288, 24164391], [24167483, 24167594], [24190005, 24190184], [24200845, 24200931], [24233188, 24233353], [24234503, 24234629], [24242118, 24242221], [24242830, 24243236], [24247510, 24250232]] [[24164322, 24164391], [24167483, 24167594], [24190005, 24190184], [24200845, 24200931], [24233188, 24233353], [24234503, 24234629], [24242118, 24242221], [24242830, 24243236], [24247510, 24247519]]
ENST00000403372 [[24144802, 24144987], [24190005, 24190184], [24200845, 24200931], [24233188, 24233353], [24234503, 24234629], [24242118, 24242221], [24242830, 24243236], [24247510, 24247638]] [[24200882, 24200931], [24233188, 24233353], [24234503, 24234629], [24242118, 24242221], [24242830, 24243236], [24247510, 24247519]]
ENST00000464735 [[24153497, 24153668], [24159594, 24159684], [24164288, 24164391], [24167483, 24167594], [24168365, 24168550]] None
ENST00000382258 [[24153498, 24153668], [24164288, 24164391], [24167483, 24167594], [24190005, 24190184], [24200845, 24200931], [24233188, 24233353], [24234503, 24234629], [24242118, 24242221], [24242830, 24243412]] [[24164322, 24164391], [24167483, 24167594], [24190005, 24190184], [24200845, 24200931], [24233188, 24233353], [24234503, 24234629], [24242118, 24242221], [24242830, 24243263]]
NM_001204459 [[24144508, 24144987], [24190005, 24190184], [24200845, 24200931], [24233188, 24233353], [24234503, 24234629], [24242118, 24242221], [24242830, 24243236], [24247510, 24250244]] [[24200882, 24200931], [24233188, 24233353], [24234503, 24234629], [24242118, 24242221], [24242830, 24243236], [24247510, 24247519]]
NM_148957 [[24144508, 24144987], [24164288, 24164391], [24167483, 24167594], [24190005, 24190184], [24200845, 24200931], [24233188, 24233353], [24234503, 24234629], [24242118, 24242221], [24242830, 24243236], [24247510, 24250244]] [[24164322, 24164391], [24167483, 24167594], [24190005, 24190184], [24200845, 24200931], [24233188, 24233353], [24234503, 24234629], [24242118, 24242221], [24242830, 24243236], [24247510, 24247519]]
NM_001204458 [[24153498, 24153668], [24164288, 24164391], [24167483, 24167594], [24190005, 24190184], [24200845, 24200931], [24233188, 24233353], [24234503, 24234629], [24242118, 24242221], [24242830, 24243236], [24247510, 24250244]] [[24164322, 24164391], [24167483, 24167594], [24190005, 24190184], [24200845, 24200931], [24233188, 24233353], [24234503, 24234629], [24242118, 24242221], [24242830, 24243236], [24247510, 24247519]]
NM_018647 [[24153498, 24153668], [24164288, 24164391], [24167483, 24167594], [24190005, 24190184], [24200845, 24200931], [24233188, 24233353], [24234503, 24234629], [24242118, 24242221], [24242830, 24243412]] [[24164322, 24164391], [24167483, 24167594], [24190005, 24190184], [24200845, 24200931], [24233188, 24233353], [24234503, 24234629], [24242118, 24242221], [24242830, 24243263]]
Promoter
Chrom Start End Description
chr13 24144532 24144589 CAGE_peak_2_at_TNFRSF19_5end
chr13 24144601 24144622 CAGE_peak_7_at_TNFRSF19_5end
chr13 24144796 24144809 CAGE_peak_6_at_TNFRSF19_5end
chr13 24144882 24144893 CAGE_peak_8_at_TNFRSF19_5end
chr13 24144896 24144956 CAGE_peak_3_at_TNFRSF19_5end
chr13 24144958 24144969 CAGE_peak_10_at_TNFRSF19_5end
chr13 24153488 24153553 CAGE_peak_1_at_TNFRSF19_5end
chr13 24153554 24153576 CAGE_peak_4_at_TNFRSF19_5end
chr13 24153584 24153602 CAGE_peak_5_at_TNFRSF19_5end
chr13 24153617 24153622 CAGE_peak_11_at_TNFRSF19_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I023574 23574115 23574482 0.22 [{'connected_gene': 'TNFRSF19', 'score': 3.23}, {'connected_gene': 'SGCG', 'score': 1.27}, {'connected_gene': 'LOC105370114', 'score': 0.11}]
chr13 GH13I023578 23578505 23581085 1.97 [{'connected_gene': 'TNFRSF19', 'score': 550.44}, {'connected_gene': 'C1QTNF9B', 'score': 10.28}, {'connected_gene': 'MIPEP', 'score': 10.05}, {'connected_gene': 'PCOTH', 'score': 10.05}, {'connected_gene': 'LOC105370114', 'score': 0.12}]
chr13 GH13I023762 23762369 23764047 0.2 [{'connected_gene': 'TNFRSF19', 'score': 9.4}, {'connected_gene': 'C1QTNF9', 'score': 7.12}, {'connected_gene': 'MIPEP', 'score': 6.81}, {'connected_gene': 'MTCO3P2', 'score': 0.77}, {'connected_gene': 'PIR57166', 'score': 0.25}]
chr13 GH13I023616 23616780 23619952 0.76 [{'connected_gene': 'TNFRSF19', 'score': 20.07}, {'connected_gene': 'LOC105370114', 'score': 0.15}]
chr13 GH13I023667 23667987 23669562 0.43 [{'connected_gene': 'TNFRSF19', 'score': 15.49}, {'connected_gene': 'LOC105370114', 'score': 0.25}]
chr13 GH13I023628 23628922 23629071 0.2 [{'connected_gene': 'TNFRSF19', 'score': 10.36}, {'connected_gene': 'LOC105370114', 'score': 0.17}]
chr13 GH13I023614 23614811 23616625 0.84 [{'connected_gene': 'TNFRSF19', 'score': 19.92}, {'connected_gene': 'LOC105370114', 'score': 0.15}]
chr13 GH13I023630 23630862 23631011 0.72 [{'connected_gene': 'TNFRSF19', 'score': 10.35}, {'connected_gene': 'LOC105370114', 'score': 0.18}]
chr13 GH13I023569 23569641 23573668 2.15 [{'connected_gene': 'TNFRSF19', 'score': 550.77}, {'connected_gene': 'LOC105370114', 'score': 0.11}]
chr13 GH13I023678 23678135 23679921 0.74 [{'connected_gene': 'TNFRSF19', 'score': 5.79}, {'connected_gene': 'LOC105370114', 'score': 0.28}]
chr13 GH13I023659 23659837 23660743 0.2 [{'connected_gene': 'TNFRSF19', 'score': 9.93}, {'connected_gene': 'LOC105370114', 'score': 0.23}]
chr13 GH13I023644 23644173 23645210 0.51 [{'connected_gene': 'TNFRSF19', 'score': 10.22}, {'connected_gene': 'LOC105370114', 'score': 0.19}]
chr13 GH13I023620 23620166 23622190 0.74 [{'connected_gene': 'TNFRSF19', 'score': 15.89}, {'connected_gene': 'LOC105370114', 'score': 0.16}]
chr13 GH13I023665 23665971 23666877 0.4 [{'connected_gene': 'TNFRSF19', 'score': 15.94}, {'connected_gene': 'LOC105370114', 'score': 0.25}]
chr13 GH13I023629 23629138 23630855 0.87 [{'connected_gene': 'TNFRSF19', 'score': 19.74}, {'connected_gene': 'LOC105370114', 'score': 0.18}]
chr13 GH13I023637 23637982 23638131 0.31 [{'connected_gene': 'TNFRSF19', 'score': 10.17}, {'connected_gene': 'LOC105370114', 'score': 0.18}]
chr13 GH13I023655 23655918 23659147 1.19 [{'connected_gene': 'TNFRSF19', 'score': 16.09}, {'connected_gene': 'LOC105370114', 'score': 0.22}]
chr13 GH13I023598 23598634 23601297 0.8 [{'connected_gene': 'TNFRSF19', 'score': 10.72}, {'connected_gene': 'LOC105370114', 'score': 0.14}]
chr13 GH13I023669 23669596 23676741 1.06 [{'connected_gene': 'TNFRSF19', 'score': 15.61}, {'connected_gene': 'LOC105370114', 'score': 0.26}]
chr13 GH13I023631 23631205 23633397 0.6 [{'connected_gene': 'TNFRSF19', 'score': 19.71}, {'connected_gene': 'LOC105370114', 'score': 0.18}]
chr13 GH13I023652 23652752 23655184 1 [{'connected_gene': 'TNFRSF19', 'score': 15.47}, {'connected_gene': 'LOC105370114', 'score': 0.21}]
chr13 GH13I023515 23515872 23516703 0.31 [{'connected_gene': 'TNFRSF19', 'score': 10.52}, {'connected_gene': 'PIR60894', 'score': 0.37}, {'connected_gene': 'LINC00352', 'score': 0.37}]
chr13 GH13I023557 23557975 23560977 1.32 [{'connected_gene': 'TNFRSF19', 'score': 0.39}, {'connected_gene': 'PIR60894', 'score': 0.31}]
chr13 GH13I023546 23546802 23547799 0.58 [{'connected_gene': 'TNFRSF19', 'score': 12.07}, {'connected_gene': 'PIR60894', 'score': 0.37}]
chr13 GH13I023551 23551690 23552756 0.79 [{'connected_gene': 'TNFRSF19', 'score': 0.37}, {'connected_gene': 'PIR60894', 'score': 0.34}]
chr13 GH13I023567 23567981 23568391 0.95 [{'connected_gene': 'TNFRSF19', 'score': 0.77}, {'connected_gene': 'PIR60894', 'score': 0.28}]
chr13 GH13I023769 23769183 23772824 0.96 [{'connected_gene': 'MIPEP', 'score': 10.5}, {'connected_gene': 'TNFRSF19', 'score': 9.62}, {'connected_gene': 'C1QTNF9', 'score': 4.75}, {'connected_gene': 'MTCO3P2', 'score': 0.77}, {'connected_gene': 'PCOTH', 'score': 0.13}]
chr13 GH13I023608 23608043 23610999 1.05 [{'connected_gene': 'MIPEP', 'score': 11.22}, {'connected_gene': 'PCOTH', 'score': 11.22}, {'connected_gene': 'C1QTNF9B', 'score': 11.22}, {'connected_gene': 'TNFRSF19', 'score': 10.51}, {'connected_gene': 'LOC105370114', 'score': 0.14}]
chr13 GH13I023504 23504584 23508235 1.09 [{'connected_gene': 'MIPEP', 'score': 11.27}, {'connected_gene': 'PCOTH', 'score': 11.27}, {'connected_gene': 'C1QTNF9B', 'score': 11.27}, {'connected_gene': 'TNFRSF19', 'score': 11.22}, {'connected_gene': 'LINC00352', 'score': 0.44}, {'connected_gene': 'PIR60894', 'score': 0.31}]
chr13 GH13I023509 23509626 23511732 0.99 [{'connected_gene': 'C1QTNF9B', 'score': 11.0}, {'connected_gene': 'TNFRSF19', 'score': 10.82}, {'connected_gene': 'LINC00352', 'score': 0.39}, {'connected_gene': 'PIR60894', 'score': 0.34}]
chr13 GH13I023468 23468864 23471435 0.59 [{'connected_gene': 'C1QTNF9B', 'score': 11.97}, {'connected_gene': 'MIPEP', 'score': 11.72}, {'connected_gene': 'PCOTH', 'score': 11.72}, {'connected_gene': 'SACS', 'score': 11.27}, {'connected_gene': 'TNFRSF19', 'score': 10.4}, {'connected_gene': 'LINC00327', 'score': 0.77}, {'connected_gene': 'LINC00352', 'score': 0.31}]
chr13 GH13I023805 23805792 23808699 0.95 [{'connected_gene': 'C1QTNF9', 'score': 27.18}, {'connected_gene': 'TNFRSF19', 'score': 9.14}, {'connected_gene': 'MIPEP', 'score': 8.74}, {'connected_gene': 'MTCO3P2', 'score': 0.26}, {'connected_gene': 'PCOTH', 'score': 0.18}]
chr13 GH13I023848 23848162 23849490 0.31 [{'connected_gene': 'C1QTNF9', 'score': 28.33}, {'connected_gene': 'MIPEP', 'score': 11.67}, {'connected_gene': 'TNFRSF19', 'score': 9.96}, {'connected_gene': 'PCOTH', 'score': 0.26}, {'connected_gene': 'MTCO3P2', 'score': 0.18}]
chr13 GH13I023866 23866304 23869579 1.14 [{'connected_gene': 'C1QTNF9', 'score': 39.85}, {'connected_gene': 'MIPEP', 'score': 21.1}, {'connected_gene': 'PCOTH', 'score': 11.96}, {'connected_gene': 'C1QTNF9B', 'score': 11.91}, {'connected_gene': 'TNFRSF19', 'score': 10.34}, {'connected_gene': 'MTCO3P2', 'score': 0.15}]
chr13 GH13I023558 23557383 23557684 0.73 [{'connected_gene': 'SACS', 'score': 1.24}, {'connected_gene': 'TNFRSF19', 'score': 0.39}, {'connected_gene': 'PIR60894', 'score': 0.31}]
chr13 GH13I023460 23460601 23461000 0.54 [{'connected_gene': 'SACS', 'score': 11.96}, {'connected_gene': 'MIPEP', 'score': 11.35}, {'connected_gene': 'PCOTH', 'score': 11.35}, {'connected_gene': 'C1QTNF9B', 'score': 11.35}, {'connected_gene': 'TNFRSF19', 'score': 9.96}, {'connected_gene': 'LINC00327', 'score': 0.44}]
chr13 GH13I023680 23680503 23682070 0.51 [{'connected_gene': 'LOC105370114', 'score': 0.29}, {'connected_gene': 'TNFRSF19', 'score': 0.14}]
chr13 GH13I023705 23705401 23706341 0.43 [{'connected_gene': 'LOC105370114', 'score': 0.44}, {'connected_gene': 'TNFRSF19', 'score': 0.12}]
chr13 GH13I023694 23694963 23696989 0.4 [{'connected_gene': 'LOC105370114', 'score': 0.37}, {'connected_gene': 'TNFRSF19', 'score': 0.13}]
chr13 GH13I023703 23703302 23703451 0.2 [{'connected_gene': 'LOC105370114', 'score': 0.39}, {'connected_gene': 'TNFRSF19', 'score': 0.12}]
chr13 GH13I023700 23700854 23702381 0.4 [{'connected_gene': 'LOC105370114', 'score': 0.39}, {'connected_gene': 'TNFRSF19', 'score': 0.12}]
chr13 GH13I023766 23766462 23766611 0.52 [{'connected_gene': 'MTCO3P2', 'score': 550.77}, {'connected_gene': 'TNFRSF19', 'score': 9.59}, {'connected_gene': 'MIPEP', 'score': 0.13}, {'connected_gene': 'PCOTH', 'score': 0.13}]
chr13 GH13I023465 23465989 23467989 1.38 [{'connected_gene': 'LINC00327', 'score': 550.77}, {'connected_gene': 'C1QTNF9B', 'score': 11.97}, {'connected_gene': 'MIPEP', 'score': 11.72}, {'connected_gene': 'PCOTH', 'score': 11.72}, {'connected_gene': 'TNFRSF19', 'score': 10.4}, {'connected_gene': 'LINC00352', 'score': 0.29}]
chr13 GH13I024015 24015200 24017641 0.2 [{'connected_gene': 'ENSG00000228741', 'score': 12.19}, {'connected_gene': 'TNFRSF19', 'score': 6.23}, {'connected_gene': 'PIR59399', 'score': 0.34}, {'connected_gene': 'SPATA13', 'score': 0.28}, {'connected_gene': 'ENSG00000273167', 'score': 0.28}]