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
ENST00000378892 [[34634718, 34635855], [34636993, 34637086], [34637216, 34637729]] [[34635628, 34635855], [34636993, 34637086], [34637216, 34637301]]
ENST00000353468 [[34634718, 34635855], [34636993, 34637086], [34637263, 34637417], [34637543, 34637741]] [[34637070, 34637086], [34637263, 34637417], [34637543, 34637694]]
ENST00000277010 [[34634718, 34635855], [34636993, 34637086], [34637216, 34637417], [34637543, 34637768]] [[34635628, 34635855], [34636993, 34637086], [34637216, 34637417], [34637543, 34637694]]
ENST00000477726 [[34635479, 34635855], [34637216, 34637417], [34637543, 34637806]] [[34635628, 34635855], [34637216, 34637417], [34637543, 34637694]]
ENST00000461426 [[34635493, 34635855], [34637216, 34637793]] None
ENST00000497006 [[34635806, 34635855], [34636993, 34637417], [34637543, 34637680]] None
ENST00000478146 [[34636747, 34637086], [34637263, 34637409]] None
NM_001282208 [[34634718, 34635855], [34636993, 34637109], [34637216, 34637417], [34637543, 34637823]] [[34635843, 34635855], [34636993, 34637109], [34637216, 34637417], [34637543, 34637694]]
NM_005866 [[34634718, 34635855], [34636993, 34637086], [34637216, 34637417], [34637543, 34637823]] [[34635628, 34635855], [34636993, 34637086], [34637216, 34637417], [34637543, 34637694]]
NM_001282205 [[34634718, 34635637], [34636993, 34637086], [34637216, 34637417], [34637543, 34637823]] [[34635614, 34635637], [34636993, 34637086], [34637216, 34637417], [34637543, 34637694]]
NM_147157 [[34634718, 34635855], [34637216, 34637417], [34637543, 34637823]] [[34635628, 34635855], [34637216, 34637417], [34637543, 34637694]]
NM_001282206 [[34634718, 34635855], [34636993, 34637086], [34637263, 34637417], [34637543, 34637823]] [[34635628, 34635855], [34636993, 34637086], [34637263, 34637315]]
NM_001282209 [[34634718, 34635855], [34637263, 34637417], [34637543, 34637823]] [[34635827, 34635855], [34637263, 34637417], [34637543, 34637694]]
NR_104108 [[34634718, 34635855], [34636993, 34637086], [34637329, 34637417], [34637543, 34637823]] None
NM_001282207 [[34634718, 34635855], [34636993, 34637086], [34637216, 34637417], [34637603, 34637823]] [[34635628, 34635855], [34636993, 34637086], [34637216, 34637417], [34637603, 34637694]]
Promoter
Chrom Start End Description
chr9 34635766 34635779 CAGE_peak_4_at_SIGMAR1_5end
chr9 34635845 34635856 CAGE_peak_3_at_SIGMAR1_5end
chr9 34637718 34637791 CAGE_peak_1_at_SIGMAR1_5end
chr9 34637807 34637828 CAGE_peak_2_at_SIGMAR1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I034430 34430863 34431012 0.52 [{'connected_gene': 'DNAI1', 'score': 12.28}, {'connected_gene': 'FAM219A', 'score': 12.28}, {'connected_gene': 'ENSG00000230729', 'score': 11.29}, {'connected_gene': 'RPP25L', 'score': 10.99}, {'connected_gene': 'ENHO', 'score': 10.72}, {'connected_gene': 'ARID3C', 'score': 10.61}, {'connected_gene': 'SIGMAR1', 'score': 10.61}, {'connected_gene': 'GALT', 'score': 10.61}, {'connected_gene': 'DCTN3', 'score': 10.32}, {'connected_gene': 'C9orf24', 'score': 0.29}]
chr9 GH09I034431 34431083 34431232 0.59 [{'connected_gene': 'DNAI1', 'score': 12.28}, {'connected_gene': 'FAM219A', 'score': 12.28}, {'connected_gene': 'ENSG00000230729', 'score': 11.29}, {'connected_gene': 'RPP25L', 'score': 10.99}, {'connected_gene': 'ENHO', 'score': 10.72}, {'connected_gene': 'ARID3C', 'score': 10.61}, {'connected_gene': 'SIGMAR1', 'score': 10.61}, {'connected_gene': 'GALT', 'score': 10.61}, {'connected_gene': 'DCTN3', 'score': 10.32}, {'connected_gene': 'C9orf24', 'score': 0.29}]
chr9 GH09I034645 34645955 34648591 2.06 [{'connected_gene': 'GALT', 'score': 568.66}, {'connected_gene': 'ENSG00000258728', 'score': 550.77}, {'connected_gene': 'PIGO', 'score': 11.18}, {'connected_gene': 'DCTN3', 'score': 11.12}, {'connected_gene': 'ENSG00000228352', 'score': 10.85}, {'connected_gene': 'SIGMAR1', 'score': 5.74}, {'connected_gene': 'IL11RA', 'score': 0.77}]
chr9 GH09I034573 34573699 34575506 0.2 [{'connected_gene': 'GALT', 'score': 23.49}, {'connected_gene': 'ENSG00000232983', 'score': 13.56}, {'connected_gene': 'RPP25L', 'score': 11.62}, {'connected_gene': 'ENHO', 'score': 11.17}, {'connected_gene': 'ENSG00000230729', 'score': 11.0}, {'connected_gene': 'DCTN3', 'score': 10.42}, {'connected_gene': 'ARID3C', 'score': 10.4}, {'connected_gene': 'SIGMAR1', 'score': 10.37}, {'connected_gene': 'NUDT2', 'score': 4.49}, {'connected_gene': 'GC09P034579', 'score': 0.77}, {'connected_gene': 'CNTFR-AS1', 'score': 0.44}, {'connected_gene': 'LOC105376023', 'score': 0.44}, {'connected_gene': 'CNTFR', 'score': 0.37}]
chr9 GH09I034636 34636627 34638973 2.01 [{'connected_gene': 'GALT', 'score': 567.81}, {'connected_gene': 'SIGMAR1', 'score': 558.0}, {'connected_gene': 'PIGO', 'score': 24.29}, {'connected_gene': 'ENSG00000228352', 'score': 15.59}, {'connected_gene': 'ENSG00000230074', 'score': 14.5}, {'connected_gene': 'ARID3C', 'score': 0.44}]
chr9 GH09I034501 34501873 34502439 0.54 [{'connected_gene': 'FAM219A', 'score': 17.03}, {'connected_gene': 'ENSG00000232983', 'score': 12.14}, {'connected_gene': 'CNTFR-AS1', 'score': 12.08}, {'connected_gene': 'DNAI1', 'score': 11.35}, {'connected_gene': 'RPP25L', 'score': 10.43}, {'connected_gene': 'ARID3C', 'score': 10.24}, {'connected_gene': 'SIGMAR1', 'score': 10.23}, {'connected_gene': 'GALT', 'score': 10.23}, {'connected_gene': 'PIR54959', 'score': 0.39}, {'connected_gene': 'RN7SKP24', 'score': 0.34}]
chr9 GH09I034500 34500763 34500932 0.65 [{'connected_gene': 'FAM219A', 'score': 15.32}, {'connected_gene': 'ENSG00000230729', 'score': 11.66}, {'connected_gene': 'ENHO', 'score': 11.48}, {'connected_gene': 'DNAI1', 'score': 11.31}, {'connected_gene': 'ARID3C', 'score': 10.21}, {'connected_gene': 'SIGMAR1', 'score': 10.2}, {'connected_gene': 'GALT', 'score': 10.2}, {'connected_gene': 'PIR54959', 'score': 0.37}, {'connected_gene': 'RN7SKP24', 'score': 0.34}]
chr9 GH09I034437 34437463 34437632 0.62 [{'connected_gene': 'FAM219A', 'score': 12.3}, {'connected_gene': 'NUDT2', 'score': 11.53}, {'connected_gene': 'ENSG00000230729', 'score': 11.31}, {'connected_gene': 'RPP25L', 'score': 10.99}, {'connected_gene': 'ENHO', 'score': 10.73}, {'connected_gene': 'ARID3C', 'score': 10.62}, {'connected_gene': 'SIGMAR1', 'score': 10.61}, {'connected_gene': 'GALT', 'score': 10.61}, {'connected_gene': 'DCTN3', 'score': 10.32}, {'connected_gene': 'DNAI1', 'score': 0.37}, {'connected_gene': 'C9orf24', 'score': 0.28}]
chr9 GH09I034610 34610877 34613339 1.96 [{'connected_gene': 'RPP25L', 'score': 560.55}, {'connected_gene': 'GALT', 'score': 15.13}, {'connected_gene': 'SIGMAR1', 'score': 7.14}, {'connected_gene': 'CNTFR', 'score': 0.34}]
chr9 GH09I034631 34630478 34630586 0.64 [{'connected_gene': 'ARID3C', 'score': 550.77}, {'connected_gene': 'MYORG', 'score': 3.9}, {'connected_gene': 'GALT', 'score': 2.01}, {'connected_gene': 'SIGMAR1', 'score': 0.44}]
chr9 GH09I034628 34628600 34629678 0.7 [{'connected_gene': 'ARID3C', 'score': 550.77}, {'connected_gene': 'ENSG00000230074', 'score': 15.28}, {'connected_gene': 'GALT', 'score': 11.82}, {'connected_gene': 'SIGMAR1', 'score': 0.44}]
chr9 GH09I034630 34630841 34631034 0.56 [{'connected_gene': 'ARID3C', 'score': 550.77}, {'connected_gene': 'DNAJB5', 'score': 5.29}, {'connected_gene': 'CNTFR', 'score': 3.43}, {'connected_gene': 'ENHO', 'score': 1.76}, {'connected_gene': 'PHF24', 'score': 1.62}, {'connected_gene': 'SIGMAR1', 'score': 0.44}]
chr9 GH09I034513 34513530 34514025 0.49 [{'connected_gene': 'CNTFR', 'score': 11.31}, {'connected_gene': 'DNAI1', 'score': 11.19}, {'connected_gene': 'FAM219A', 'score': 11.19}, {'connected_gene': 'RPP25L', 'score': 10.85}, {'connected_gene': 'ARID3C', 'score': 10.25}, {'connected_gene': 'SIGMAR1', 'score': 10.25}, {'connected_gene': 'GALT', 'score': 10.25}, {'connected_gene': 'FANCG', 'score': 5.0}, {'connected_gene': 'PIR54959', 'score': 0.77}, {'connected_gene': 'RN7SKP24', 'score': 0.28}]
chr9 GH09I034511 34511223 34511372 0.2 [{'connected_gene': 'CNTFR', 'score': 11.31}, {'connected_gene': 'DNAI1', 'score': 11.2}, {'connected_gene': 'FAM219A', 'score': 11.2}, {'connected_gene': 'RPP25L', 'score': 10.84}, {'connected_gene': 'SIGMAR1', 'score': 10.25}, {'connected_gene': 'GALT', 'score': 10.25}, {'connected_gene': 'ARID3C', 'score': 10.25}, {'connected_gene': 'PIR54959', 'score': 0.77}, {'connected_gene': 'RN7SKP24', 'score': 0.29}]
chr9 GH09I034512 34512701 34513518 0.73 [{'connected_gene': 'CNTFR', 'score': 11.31}, {'connected_gene': 'FAM219A', 'score': 11.2}, {'connected_gene': 'DNAI1', 'score': 11.19}, {'connected_gene': 'RPP25L', 'score': 10.85}, {'connected_gene': 'GALT', 'score': 10.25}, {'connected_gene': 'ARID3C', 'score': 10.25}, {'connected_gene': 'SIGMAR1', 'score': 10.25}, {'connected_gene': 'PIR54959', 'score': 0.77}, {'connected_gene': 'RN7SKP24', 'score': 0.29}]
chr9 GH09I034514 34512543 34512692 0.67 [{'connected_gene': 'CNTFR', 'score': 11.31}, {'connected_gene': 'FAM219A', 'score': 11.2}, {'connected_gene': 'DNAI1', 'score': 11.19}, {'connected_gene': 'RPP25L', 'score': 10.85}, {'connected_gene': 'SIGMAR1', 'score': 10.25}, {'connected_gene': 'GALT', 'score': 10.25}, {'connected_gene': 'ARID3C', 'score': 10.25}, {'connected_gene': 'NUDT2', 'score': 5.81}, {'connected_gene': 'PIR54959', 'score': 0.77}, {'connected_gene': 'RN7SKP24', 'score': 0.29}]
chr9 GH09I034619 34619619 34621153 1.88 [{'connected_gene': 'DCTN3', 'score': 550.77}, {'connected_gene': 'UBAP2', 'score': 25.59}, {'connected_gene': 'FAM205A', 'score': 12.03}, {'connected_gene': 'RPP25L', 'score': 11.83}, {'connected_gene': 'C9orf131', 'score': 10.73}, {'connected_gene': 'ATP8B5P', 'score': 10.3}, {'connected_gene': 'VCP', 'score': 10.1}, {'connected_gene': 'SIGMAR1', 'score': 6.85}]
chr9 GH09I034633 34633984 34634153 0.72 [{'connected_gene': 'SIGMAR1', 'score': 0.77}, {'connected_gene': 'ARID3C', 'score': 0.44}]
chr9 GH09I034635 34635801 34636200 0.2 [{'connected_gene': 'SIGMAR1', 'score': 550.77}, {'connected_gene': 'ARID3C', 'score': 0.44}]
chr9 GH09I034662 34662238 34667286 2.41 [{'connected_gene': 'ENSG00000230074', 'score': 572.11}, {'connected_gene': 'LOC730098', 'score': 550.77}, {'connected_gene': 'ENSG00000261215', 'score': 550.77}, {'connected_gene': 'CCL27', 'score': 550.77}, {'connected_gene': 'GALT', 'score': 16.08}, {'connected_gene': 'ENSG00000228352', 'score': 11.27}, {'connected_gene': 'RPP25L', 'score': 11.16}, {'connected_gene': 'ENSG00000231393', 'score': 10.49}, {'connected_gene': 'SIGMAR1', 'score': 4.78}]
chr9 GH09I034575 34575665 34580790 0.77 [{'connected_gene': 'GC09P034579', 'score': 550.77}, {'connected_gene': 'GC09P034580', 'score': 550.77}, {'connected_gene': 'GALT', 'score': 26.13}, {'connected_gene': 'RPP25L', 'score': 22.39}, {'connected_gene': 'ENSG00000230074', 'score': 15.55}, {'connected_gene': 'ENHO', 'score': 15.51}, {'connected_gene': 'FAM219A', 'score': 14.09}, {'connected_gene': 'ENSG00000232983', 'score': 13.54}, {'connected_gene': 'ARID3C', 'score': 12.12}, {'connected_gene': 'CNTFR', 'score': 11.37}, {'connected_gene': 'ENSG00000230729', 'score': 10.98}, {'connected_gene': 'SIGMAR1', 'score': 10.74}, {'connected_gene': 'DNAI1', 'score': 10.51}, {'connected_gene': 'DCTN3', 'score': 10.44}, {'connected_gene': 'IL11RA', 'score': 10.15}, {'connected_gene': 'CCL19', 'score': 9.62}, {'connected_gene': 'DNAJB5', 'score': 4.58}, {'connected_gene': 'PHF24', 'score': 3.22}, {'connected_gene': 'LOC105376023', 'score': 0.44}, {'connected_gene': 'CNTFR-AS1', 'score': 0.39}]