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
ENST00000335350 [[72972326, 72972821], [73039577, 73039802], [73044476, 73044620], [73045082, 73045186], [73046445, 73046626], [73047354, 73047522], [73048324, 73048489], [73048714, 73048747], [73050671, 73050866], [73051188, 73051578], [73052223, 73052311], [73053161, 73053330], [73053456, 73053690], [73055567, 73055717], [73056334, 73056499], [73057665, 73057847], [73058868, 73062621]] [[72972742, 72972821], [73039577, 73039802], [73044476, 73044620], [73045082, 73045186], [73046445, 73046626], [73047354, 73047522], [73048324, 73048489], [73048714, 73048747], [73050671, 73050866], [73051188, 73051578], [73052223, 73052311], [73053161, 73053330], [73053456, 73053690], [73055567, 73055717], [73056334, 73056499], [73057665, 73057847], [73058868, 73059034]]
ENST00000373192 [[72972683, 72972821], [73039577, 73039802], [73044476, 73044620], [73045082, 73045186], [73046445, 73046626], [73047354, 73047522], [73048324, 73048489], [73050671, 73050866], [73051188, 73051578], [73052223, 73052311], [73053161, 73053330], [73053456, 73053690], [73055567, 73055717], [73056334, 73056499], [73057665, 73057847], [73058868, 73062621]] [[72972742, 72972821], [73039577, 73039802], [73044476, 73044620], [73045082, 73045186], [73046445, 73046626], [73047354, 73047522], [73048324, 73048489], [73050671, 73050866], [73051188, 73051578], [73052223, 73052311], [73053161, 73053330], [73053456, 73053690], [73055567, 73055717], [73056334, 73056499], [73057665, 73057847], [73058868, 73059034]]
NM_001244889 [[72972291, 72972821], [73039577, 73039802], [73044476, 73044620], [73045082, 73045186], [73046445, 73046626], [73047354, 73047522], [73048324, 73048489], [73050671, 73050866], [73051188, 73051578], [73052223, 73052311], [73053161, 73053330], [73053456, 73053690], [73055567, 73055717], [73056334, 73056499], [73057665, 73057847], [73058868, 73062635]] [[72972742, 72972821], [73039577, 73039802], [73044476, 73044620], [73045082, 73045186], [73046445, 73046626], [73047354, 73047522], [73048324, 73048489], [73050671, 73050866], [73051188, 73051578], [73052223, 73052311], [73053161, 73053330], [73053456, 73053690], [73055567, 73055717], [73056334, 73056499], [73057665, 73057847], [73058868, 73059034]]
NM_170744 [[72972291, 72972821], [73039577, 73039802], [73044476, 73044620], [73045082, 73045186], [73046445, 73046626], [73047354, 73047522], [73048324, 73048489], [73048714, 73048747], [73050671, 73050866], [73051188, 73051578], [73052223, 73052311], [73053161, 73053330], [73053456, 73053690], [73055567, 73055717], [73056334, 73056499], [73057665, 73057847], [73058868, 73062635]] [[72972742, 72972821], [73039577, 73039802], [73044476, 73044620], [73045082, 73045186], [73046445, 73046626], [73047354, 73047522], [73048324, 73048489], [73048714, 73048747], [73050671, 73050866], [73051188, 73051578], [73052223, 73052311], [73053161, 73053330], [73053456, 73053690], [73055567, 73055717], [73056334, 73056499], [73057665, 73057847], [73058868, 73059034]]
Promoter
Chrom Start End Description
chr10 72972281 72972336 CAGE_peak_1_at_UNC5B_5end
chr10 72972434 72972441 CAGE_peak_3_at_UNC5B_5end
chr10 72972487 72972494 CAGE_peak_2_at_UNC5B_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I071215 71215773 71218913 1.64 [{'connected_gene': 'UNC5B-AS1', 'score': 557.01}, {'connected_gene': 'UNC5B', 'score': 0.77}]
chr10 GH10I071228 71228604 71231072 0.7 [{'connected_gene': 'SLC29A3', 'score': 9.74}, {'connected_gene': 'PIR59347', 'score': 0.44}, {'connected_gene': 'UNC5B-AS1', 'score': 0.39}, {'connected_gene': 'UNC5B', 'score': 0.37}]
chr10 GH10I071289 71289654 71290361 0.38 [{'connected_gene': 'SLC29A3', 'score': 11.08}, {'connected_gene': 'PCBD1', 'score': 10.6}, {'connected_gene': 'GC10P071300', 'score': 0.39}, {'connected_gene': 'PIR34735', 'score': 0.37}, {'connected_gene': 'UNC5B', 'score': 0.18}]
chr10 GH10I071285 71285204 71285353 0.83 [{'connected_gene': 'SLC29A3', 'score': 11.06}, {'connected_gene': 'PCBD1', 'score': 10.6}, {'connected_gene': 'PIR34735', 'score': 0.39}, {'connected_gene': 'GC10P071300', 'score': 0.39}, {'connected_gene': 'UNC5B', 'score': 0.19}]
chr10 GH10I071279 71279345 71279537 0.69 [{'connected_gene': 'SLC29A3', 'score': 11.05}, {'connected_gene': 'UNC5B', 'score': 10.66}, {'connected_gene': 'PIR34735', 'score': 0.44}, {'connected_gene': 'GC10P071300', 'score': 0.34}]
chr10 GH10I071220 71220368 71221707 0.64 [{'connected_gene': 'PCBD1', 'score': 9.7}, {'connected_gene': 'UNC5B-AS1', 'score': 7.27}, {'connected_gene': 'UNC5B', 'score': 0.44}, {'connected_gene': 'PIR59347', 'score': 0.37}]
chr10 GH10I071222 71222471 71223552 0.94 [{'connected_gene': 'PCBD1', 'score': 9.7}, {'connected_gene': 'UNC5B-AS1', 'score': 0.77}, {'connected_gene': 'UNC5B', 'score': 0.39}, {'connected_gene': 'PIR59347', 'score': 0.37}]
chr10 GH10I071223 71223697 71226042 0.81 [{'connected_gene': 'PCBD1', 'score': 10.15}, {'connected_gene': 'UNC5B-AS1', 'score': 0.44}, {'connected_gene': 'UNC5B', 'score': 0.39}, {'connected_gene': 'PIR59347', 'score': 0.39}]
chr10 GH10I070970 70970944 70971153 0.31 [{'connected_gene': 'PCBD1', 'score': 10.38}, {'connected_gene': 'UNC5B', 'score': 10.37}, {'connected_gene': 'LOC105378350', 'score': 0.44}, {'connected_gene': 'LOC105378349', 'score': 0.29}]
chr10 GH10I071212 71212064 71214797 2.49 [{'connected_gene': 'UNC5B', 'score': 558.25}, {'connected_gene': 'SGPL1', 'score': 12.24}, {'connected_gene': 'UNC5B-AS1', 'score': 0.77}]
chr10 GH10I071262 71262370 71264872 1.09 [{'connected_gene': 'UNC5B', 'score': 23.6}, {'connected_gene': 'UNC5B-AS1', 'score': 11.54}, {'connected_gene': 'CDH23', 'score': 10.13}, {'connected_gene': 'PIR34735', 'score': 0.44}, {'connected_gene': 'PIR59347', 'score': 0.31}]
chr10 GH10I071259 71259472 71261487 1.15 [{'connected_gene': 'UNC5B', 'score': 21.29}, {'connected_gene': 'UNC5B-AS1', 'score': 11.55}, {'connected_gene': 'CDH23', 'score': 10.13}, {'connected_gene': 'PIR34735', 'score': 0.39}, {'connected_gene': 'PIR59347', 'score': 0.34}]
chr10 GH10I071258 71258716 71259121 0.31 [{'connected_gene': 'UNC5B', 'score': 22.0}, {'connected_gene': 'UNC5B-AS1', 'score': 11.55}, {'connected_gene': 'CDH23', 'score': 10.13}, {'connected_gene': 'PIR34735', 'score': 0.39}, {'connected_gene': 'PIR59347', 'score': 0.34}]
chr10 GH10I071265 71265234 71272946 1.7 [{'connected_gene': 'UNC5B', 'score': 13.37}, {'connected_gene': 'UNC5B-AS1', 'score': 11.52}, {'connected_gene': 'SLC29A3', 'score': 10.8}, {'connected_gene': 'CDH23-AS1', 'score': 10.18}, {'connected_gene': 'CDH23', 'score': 10.18}, {'connected_gene': 'PCBD1', 'score': 9.89}, {'connected_gene': 'PIR34735', 'score': 0.77}, {'connected_gene': 'PIR59347', 'score': 0.29}]
chr10 GH10I071251 71251563 71257183 1.15 [{'connected_gene': 'UNC5B', 'score': 24.67}, {'connected_gene': 'UNC5B-AS1', 'score': 11.61}, {'connected_gene': 'PCBD1', 'score': 10.25}, {'connected_gene': 'CDH23', 'score': 10.12}, {'connected_gene': 'PIR59347', 'score': 0.37}, {'connected_gene': 'PIR34735', 'score': 0.37}]
chr10 GH10I071231 71231860 71237179 1.57 [{'connected_gene': 'UNC5B', 'score': 37.82}, {'connected_gene': 'UNC5B-AS1', 'score': 12.44}, {'connected_gene': 'PCBD1', 'score': 10.2}, {'connected_gene': 'SLC29A3', 'score': 9.75}, {'connected_gene': 'C10orf105', 'score': 2.25}, {'connected_gene': 'PIR59347', 'score': 0.77}]
chr10 GH10I071240 71240190 71242976 1.15 [{'connected_gene': 'UNC5B', 'score': 29.48}, {'connected_gene': 'UNC5B-AS1', 'score': 22.29}, {'connected_gene': 'PCBD1', 'score': 10.48}, {'connected_gene': 'PIR59347', 'score': 0.77}, {'connected_gene': 'PIR34735', 'score': 0.29}]
chr10 GH10I071243 71243320 71249902 1.24 [{'connected_gene': 'UNC5B', 'score': 26.31}, {'connected_gene': 'UNC5B-AS1', 'score': 22.29}, {'connected_gene': 'PCBD1', 'score': 10.48}, {'connected_gene': 'PIR59347', 'score': 0.44}, {'connected_gene': 'PIR34735', 'score': 0.31}]
chr10 GH10I071283 71283338 71285107 0.6 [{'connected_gene': 'UNC5B', 'score': 16.48}, {'connected_gene': 'SLC29A3', 'score': 11.05}, {'connected_gene': 'PCBD1', 'score': 10.6}, {'connected_gene': 'PIR34735', 'score': 0.39}, {'connected_gene': 'GC10P071300', 'score': 0.37}]
chr10 GH10I071307 71307255 71308792 0.6 [{'connected_gene': 'UNC5B', 'score': 10.17}, {'connected_gene': 'PCBD1', 'score': 9.31}, {'connected_gene': 'SLC29A3', 'score': 7.63}, {'connected_gene': 'GC10P071300', 'score': 0.44}]
chr10 GH10I071036 71036324 71036473 0.38 [{'connected_gene': 'UNC5B', 'score': 10.5}, {'connected_gene': 'PCBD1', 'score': 9.94}, {'connected_gene': 'LOC105378351', 'score': 0.29}, {'connected_gene': 'PIR52978', 'score': 0.13}]
chr10 GH10I071250 71250093 71251244 0.57 [{'connected_gene': 'UNC5B', 'score': 25.85}, {'connected_gene': 'PCBD1', 'score': 10.25}, {'connected_gene': 'PIR59347', 'score': 0.39}, {'connected_gene': 'PIR34735', 'score': 0.34}]
chr10 GH10I071025 71025704 71025813 0.54 [{'connected_gene': 'UNC5B', 'score': 10.63}, {'connected_gene': 'LOC105378351', 'score': 0.37}, {'connected_gene': 'PIR52978', 'score': 0.12}]
chr10 GH10I071125 71125044 71125193 0.31 [{'connected_gene': 'UNC5B', 'score': 10.57}, {'connected_gene': 'PIR52978', 'score': 0.29}, {'connected_gene': 'LOC105378351', 'score': 0.13}]
chr10 GH10I071136 71136304 71136553 0.31 [{'connected_gene': 'UNC5B', 'score': 11.19}, {'connected_gene': 'PIR52978', 'score': 0.37}, {'connected_gene': 'LOC105378351', 'score': 0.12}]
chr10 GH10I070941 70941284 70941359 0.46 [{'connected_gene': 'UNC5B', 'score': 10.54}, {'connected_gene': 'LOC105378349', 'score': 0.77}, {'connected_gene': 'LOC105378350', 'score': 0.28}]
chr10 GH10I071278 71278964 71279153 0.72 [{'connected_gene': 'UNC5B', 'score': 11.16}, {'connected_gene': 'PIR34735', 'score': 0.44}, {'connected_gene': 'GC10P071300', 'score': 0.34}]
chr10 GH10I071187 71187744 71187873 0.31 [{'connected_gene': 'UNC5B', 'score': 11.69}, {'connected_gene': 'PIR52978', 'score': 0.29}]
chr10 GH10I071176 71176724 71176913 0.46 [{'connected_gene': 'UNC5B', 'score': 11.02}, {'connected_gene': 'PIR52978', 'score': 0.34}]
chr10 GH10I071208 71208938 71209793 1.11 [{'connected_gene': 'UNC5B', 'score': 0.77}, {'connected_gene': 'PIR52978', 'score': 0.23}]
chr10 GH10I071299 71299201 71299800 0.31 [{'connected_gene': 'GC10P071300', 'score': 550.77}, {'connected_gene': 'CDH23', 'score': 10.98}, {'connected_gene': 'UNC5B', 'score': 10.71}, {'connected_gene': 'PCBD1', 'score': 9.89}, {'connected_gene': 'SLC29A3', 'score': 5.13}, {'connected_gene': 'PIR34735', 'score': 0.31}]