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
ENST00000334651 [[2137556, 2139270], [2161063, 2161271], [2184780, 2184988], [2209542, 2209644], [2326785, 2326854], [2343237, 2343345], [2418857, 2419019]] [[2139081, 2139270], [2161063, 2161271], [2184780, 2184988], [2209542, 2209644], [2326785, 2326854], [2343237, 2343345], [2418857, 2418966]]
ENST00000412516 [[2161102, 2161271], [2184780, 2184988], [2209542, 2209644], [2343237, 2343345], [2418857, 2419014]] [[2161102, 2161271], [2184780, 2184988], [2209542, 2209644], [2343237, 2343345], [2418857, 2418966]]
ENST00000444280 [[2184810, 2184988], [2209542, 2209644], [2326785, 2326854], [2343237, 2343345], [2418351, 2418691]] [[2184810, 2184988], [2209542, 2209644], [2326785, 2326854], [2343237, 2343253]]
ENST00000441131 [[2184894, 2184988], [2209542, 2209644], [2310394, 2310515], [2326785, 2326854], [2343237, 2343345], [2420801, 2420846]] [[2310507, 2310515], [2326785, 2326854], [2343237, 2343345], [2420801, 2420808]]
ENST00000478825 [[2209542, 2209644], [2310394, 2310515], [2326785, 2326854], [2343237, 2343345], [2418351, 2418630]] [[2310507, 2310515], [2326785, 2326854], [2343237, 2343345], [2418351, 2418630]]
ENST00000430536 [[2255871, 2256040], [2326785, 2326854], [2343237, 2343345], [2418857, 2419001]] None
ENST00000464935 [[2179434, 2179808], [2184780, 2184978]] None
ENST00000334651 [[2087556, 2089270], [2111063, 2111271], [2134780, 2134988], [2159542, 2159644], [2276785, 2276854], [2293237, 2293345], [2368857, 2369019]] [[2089081, 2089270], [2111063, 2111271], [2134780, 2134988], [2159542, 2159644], [2276785, 2276854], [2293237, 2293345], [2368857, 2368966]]
ENST00000412516 [[2111102, 2111271], [2134780, 2134988], [2159542, 2159644], [2293237, 2293345], [2368857, 2369014]] [[2111102, 2111271], [2134780, 2134988], [2159542, 2159644], [2293237, 2293345], [2368857, 2368966]]
ENST00000444280 [[2134810, 2134988], [2159542, 2159644], [2276785, 2276854], [2293237, 2293345], [2368351, 2368691]] [[2134810, 2134988], [2159542, 2159644], [2276785, 2276854], [2293237, 2293253]]
ENST00000441131 [[2134894, 2134988], [2159542, 2159644], [2260394, 2260515], [2276785, 2276854], [2293237, 2293345], [2370801, 2370846]] [[2260507, 2260515], [2276785, 2276854], [2293237, 2293345], [2370801, 2370808]]
ENST00000478825 [[2159542, 2159644], [2260394, 2260515], [2276785, 2276854], [2293237, 2293345], [2368351, 2368630]] [[2260507, 2260515], [2276785, 2276854], [2293237, 2293345], [2368351, 2368630]]
ENST00000430536 [[2205871, 2206040], [2276785, 2276854], [2293237, 2293345], [2368857, 2369001]] None
ENST00000464935 [[2129434, 2129808], [2134780, 2134978]] None
NM_145177 [[2137546, 2139270], [2161063, 2161271], [2184780, 2184988], [2209542, 2209644], [2326785, 2326854], [2343237, 2343345], [2418857, 2419015]] [[2139081, 2139270], [2161063, 2161271], [2184780, 2184988], [2209542, 2209644], [2326785, 2326854], [2343237, 2343345], [2418857, 2418966]]
NM_145177 [[2087546, 2089270], [2111063, 2111271], [2134780, 2134988], [2159542, 2159644], [2276785, 2276854], [2293237, 2293345], [2368857, 2369015]] [[2089081, 2089270], [2111063, 2111271], [2134780, 2134988], [2159542, 2159644], [2276785, 2276854], [2293237, 2293345], [2368857, 2368966]]
Promoter
Chrom Start End Description
chrX 2418634 2418682 CAGE_peak_2_at_DHRSX_5end
chrX 2418949 2419024 CAGE_peak_1_at_DHRSX_5end,CAGE_peak_1_at_ZBED1_5end
chrX 2420841 2420865 CAGE_peak_4_at_DHRSX_5end
chrX 2420871 2420883 CAGE_peak_6_at_DHRSX_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chrX GH0XI002703 2703201 2711200 1.4 [{'connected_gene': 'ZBED1', 'score': 1.96}, {'connected_gene': 'CD99', 'score': 1.91}, {'connected_gene': 'DHRSX', 'score': 1.86}, {'connected_gene': 'ARSD', 'score': 1.56}, {'connected_gene': 'XG', 'score': 0.26}]
chrX GH0XI002430 2430201 2430699 0.57 [{'connected_gene': 'ZBED1', 'score': 2.53}, {'connected_gene': 'DHRSX', 'score': 2.25}, {'connected_gene': 'DHRSX-IT1', 'score': 0.16}]
chrX GH0XI002456 2456632 2458416 0.89 [{'connected_gene': 'ZBED1', 'score': 0.26}, {'connected_gene': 'DHRSX', 'score': 0.25}, {'connected_gene': 'DHRSX-IT1', 'score': 0.13}]
chrX GH0XI002451 2451466 2453204 0.86 [{'connected_gene': 'ZBED1', 'score': 0.25}, {'connected_gene': 'DHRSX', 'score': 0.23}, {'connected_gene': 'DHRSX-IT1', 'score': 0.13}]
chrX GH0XI002499 2499800 2501401 1.83 [{'connected_gene': 'ZBED1', 'score': 550.77}, {'connected_gene': 'DHRSX', 'score': 0.77}, {'connected_gene': 'DHRSX-IT1', 'score': 0.1}]
chrX GH0XI002474 2474093 2476175 0.86 [{'connected_gene': 'AKAP17A', 'score': 10.93}, {'connected_gene': 'LINC00102', 'score': 10.39}, {'connected_gene': 'DHRSX', 'score': 0.31}, {'connected_gene': 'ZBED1', 'score': 0.31}, {'connected_gene': 'DHRSX-IT1', 'score': 0.12}]
chrX GH0XI002767 2767013 2768201 0.89 [{'connected_gene': 'CD99', 'score': 1.34}, {'connected_gene': 'ZBED1', 'score': 1.34}, {'connected_gene': 'DHRSX', 'score': 1.26}, {'connected_gene': 'XG', 'score': 0.37}, {'connected_gene': 'GYG2', 'score': 0.21}]
chrX GH0XI002695 2695602 2698000 1.26 [{'connected_gene': 'CD99', 'score': 1.59}, {'connected_gene': 'ZBED1', 'score': 1.48}, {'connected_gene': 'DHRSX', 'score': 1.4}, {'connected_gene': 'XG', 'score': 0.22}]
chrX GH0XI002484 2484002 2486199 0.49 [{'connected_gene': 'DHRSX', 'score': 0.37}, {'connected_gene': 'ZBED1', 'score': 0.37}, {'connected_gene': 'DHRSX-IT1', 'score': 0.11}]
chrX GH0XI002463 2463455 2465707 0.9 [{'connected_gene': 'DHRSX', 'score': 0.28}, {'connected_gene': 'ZBED1', 'score': 0.28}, {'connected_gene': 'DHRSX-IT1', 'score': 0.13}]
chrX GH0XI002324 2324801 2325894 1.02 [{'connected_gene': 'DHRSX', 'score': 1.34}, {'connected_gene': 'ZBED1', 'score': 1.34}, {'connected_gene': 'LOC101928070', 'score': 0.77}, {'connected_gene': 'DHRSX-IT1', 'score': 0.39}]
chrX GH0XI002521 2521030 2521915 1.01 [{'connected_gene': 'DHRSX', 'score': 0.37}, {'connected_gene': 'LOC101928092', 'score': 0.23}]
chrX GH0XI002351 2351238 2352999 0.78 [{'connected_gene': 'DHRSX-IT1', 'score': 0.37}, {'connected_gene': 'ZBED1', 'score': 0.11}, {'connected_gene': 'DHRSX', 'score': 0.1}]
chrX GH0XI002401 2401242 2402600 0.82 [{'connected_gene': 'DHRSX-IT1', 'score': 0.2}, {'connected_gene': 'ZBED1', 'score': 0.15}, {'connected_gene': 'DHRSX', 'score': 0.15}]
chrX GH0XI002358 2358401 2358600 0.2 [{'connected_gene': 'DHRSX-IT1', 'score': 0.34}, {'connected_gene': 'DHRSX', 'score': 0.11}, {'connected_gene': 'ZBED1', 'score': 0.11}]
chrX GH0XI002398 2398000 2398201 0.56 [{'connected_gene': 'DHRSX-IT1', 'score': 0.21}, {'connected_gene': 'DHRSX', 'score': 0.15}, {'connected_gene': 'ZBED1', 'score': 0.15}]
chrX GH0XI002320 2320402 2321800 0.94 [{'connected_gene': 'LOC101928070', 'score': 550.77}, {'connected_gene': 'DHRSX-IT1', 'score': 0.37}, {'connected_gene': 'DHRSX', 'score': 0.09}]