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
ENST00000328299 [[76540403, 76540569], [76779489, 76779684], [76877692, 76878102], [77093136, 77093244], [77094304, 77100286]] [[76540551, 76540569], [76779489, 76779684], [76877692, 76878102], [77093136, 77093244], [77094304, 77094491]]
ENST00000464140 [[76779597, 76779684], [76877692, 76878102], [77042530, 77042894]] None
NM_001160011 [[76540388, 76540569], [76779489, 76779684], [76877692, 76878102], [77042530, 77042894]] [[76540551, 76540569], [76779489, 76779684], [76877692, 76878102], [77042530, 77042540]]
NM_152996 [[76540388, 76540569], [76779489, 76779684], [76877692, 76878102], [77093136, 77093244], [77094304, 77096669]] [[76540551, 76540569], [76779489, 76779684], [76877692, 76878102], [77093136, 77093244], [77094304, 77094491]]
Promoter
Chrom Start End Description
chr1 76540386 76540445 CAGE_peak_1_at_ST6GALNAC3_5end
chr1 76540446 76540461 CAGE_peak_3_at_ST6GALNAC3_5end
chr1 76540475 76540526 CAGE_peak_2_at_ST6GALNAC3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I076336 76336571 76338059 0.72 [{'connected_gene': 'RPL17P6', 'score': 9.74}, {'connected_gene': 'LOC100418965', 'score': 0.37}, {'connected_gene': 'GC01M076190', 'score': 0.11}, {'connected_gene': 'ST6GALNAC3', 'score': 0.07}]
chr1 GH01I076267 76267555 76270054 0.72 [{'connected_gene': 'MSH4', 'score': 3.99}, {'connected_gene': 'GC01M076190', 'score': 0.18}, {'connected_gene': 'LOC100418965', 'score': 0.17}, {'connected_gene': 'ST6GALNAC3', 'score': 0.08}]
chr1 GH01I076037 76037069 76039428 0.64 [{'connected_gene': 'ST6GALNAC3', 'score': 23.86}, {'connected_gene': 'LOC101927342', 'score': 6.72}, {'connected_gene': 'ENSG00000230027', 'score': 0.77}, {'connected_gene': 'LOC105378806', 'score': 0.28}]
chr1 GH01I076073 76073978 76077044 2.12 [{'connected_gene': 'ST6GALNAC3', 'score': 557.93}, {'connected_gene': 'LOC101927342', 'score': 4.2}, {'connected_gene': 'GC01P076080', 'score': 0.44}]
chr1 GH01I076052 76052945 76053633 0.52 [{'connected_gene': 'ST6GALNAC3', 'score': 12.76}, {'connected_gene': 'GC01M076064', 'score': 0.39}, {'connected_gene': 'ENSG00000230027', 'score': 0.39}]
chr1 GH01I076124 76124056 76124745 0.43 [{'connected_gene': 'ST6GALNAC3', 'score': 5.57}, {'connected_gene': 'GC01M076098', 'score': 0.31}, {'connected_gene': 'PIR60968', 'score': 0.31}, {'connected_gene': 'GC01P076187', 'score': 0.21}]
chr1 GH01I076074 76073596 76073785 0.43 [{'connected_gene': 'ST6GALNAC3', 'score': 550.77}, {'connected_gene': 'GC01M076064', 'score': 0.44}]
chr1 GH01I076002 76002865 76003019 0.22 [{'connected_gene': 'LOC105378806', 'score': 550.77}, {'connected_gene': 'ST6GALNAC3', 'score': 10.51}, {'connected_gene': 'SLC44A5', 'score': 8.75}, {'connected_gene': 'ASB17', 'score': 8.09}, {'connected_gene': 'MSH4', 'score': 7.37}, {'connected_gene': 'ENSG00000230027', 'score': 0.28}, {'connected_gene': 'LOC101927342', 'score': 0.19}]
chr1 GH01I076090 76090025 76091451 0.49 [{'connected_gene': 'LOC101927342', 'score': 4.58}, {'connected_gene': 'GC01P076093', 'score': 0.77}, {'connected_gene': 'GC01P076083', 'score': 0.44}, {'connected_gene': 'ST6GALNAC3', 'score': 0.37}]
chr1 GH01I076285 76285764 76286004 0.24 [{'connected_gene': 'LOC100418965', 'score': 0.2}, {'connected_gene': 'GC01M076190', 'score': 0.16}, {'connected_gene': 'ST6GALNAC3', 'score': 0.08}]
chr1 GH01I076425 76425583 76426445 0.46 [{'connected_gene': 'GC01M076424', 'score': 550.77}, {'connected_gene': 'ST6GALNAC5', 'score': 4.71}, {'connected_gene': 'GC01P076448', 'score': 0.34}, {'connected_gene': 'ST6GALNAC3', 'score': 0.05}]
chr1 GH01I076040 76040066 76041629 0.62 [{'connected_gene': 'ENSG00000230027', 'score': 550.77}, {'connected_gene': 'ST6GALNAC3', 'score': 24.87}, {'connected_gene': 'LOC101927342', 'score': 6.4}, {'connected_gene': 'ACADM', 'score': 5.25}, {'connected_gene': 'MSH4', 'score': 5.16}, {'connected_gene': 'LOC105378806', 'score': 0.28}]
chr1 GH01I076500 76500968 76503848 0.43 [{'connected_gene': 'GC01P076491', 'score': 0.39}, {'connected_gene': 'GC01M076556', 'score': 0.23}, {'connected_gene': 'ST6GALNAC3', 'score': 0.04}]
chr1 GH01I076511 76511376 76511425 0.38 [{'connected_gene': 'GC01P076491', 'score': 0.34}, {'connected_gene': 'GC01M076556', 'score': 0.25}, {'connected_gene': 'ST6GALNAC3', 'score': 0.05}]
chr1 GH01I076547 76547370 76548593 0.57 [{'connected_gene': 'GC01M076556', 'score': 0.44}, {'connected_gene': 'GC01P076491', 'score': 0.22}, {'connected_gene': 'ST6GALNAC3', 'score': 0.04}]
chr1 GH01I076582 76582776 76583797 0.56 [{'connected_gene': 'GC01P076560', 'score': 0.34}, {'connected_gene': 'ENSG00000272855', 'score': 0.23}, {'connected_gene': 'GC01M076574', 'score': 0.1}, {'connected_gene': 'ST6GALNAC3', 'score': 0.03}]
chr1 GH01I076503 76503896 76504013 0.2 [{'connected_gene': 'GC01P076491', 'score': 0.39}, {'connected_gene': 'GC01M076556', 'score': 0.23}, {'connected_gene': 'ST6GALNAC3', 'score': 0.04}]
chr1 GH01I076153 76153736 76155374 0.96 [{'connected_gene': 'GC01P076187', 'score': 0.29}, {'connected_gene': 'GC01M076098', 'score': 0.22}, {'connected_gene': 'PIR60968', 'score': 0.22}, {'connected_gene': 'ST6GALNAC3', 'score': 0.18}]
chr1 GH01I076465 76465156 76465305 0.2 [{'connected_gene': 'GC01M076460', 'score': 0.77}, {'connected_gene': 'GC01P076448', 'score': 0.37}, {'connected_gene': 'ST6GALNAC3', 'score': 0.05}]
chr1 GH01I076228 76228801 76229600 0.2 [{'connected_gene': 'GC01M076190', 'score': 0.28}, {'connected_gene': 'LOC100418965', 'score': 0.13}, {'connected_gene': 'ST6GALNAC3', 'score': 0.1}]
chr1 GH01I076253 76253622 76255290 0.64 [{'connected_gene': 'GC01M076190', 'score': 0.21}, {'connected_gene': 'LOC100418965', 'score': 0.15}, {'connected_gene': 'ST6GALNAC3', 'score': 0.1}]
chr1 GH01I076219 76219119 76219681 0.31 [{'connected_gene': 'GC01M076190', 'score': 0.31}, {'connected_gene': 'LOC100418965', 'score': 0.12}, {'connected_gene': 'ST6GALNAC3', 'score': 0.11}]
chr1 GH01I076237 76237953 76239193 0.57 [{'connected_gene': 'GC01M076190', 'score': 0.25}, {'connected_gene': 'LOC100418965', 'score': 0.13}, {'connected_gene': 'ST6GALNAC3', 'score': 0.1}]
chr1 GH01I076230 76230777 76232412 0.38 [{'connected_gene': 'GC01M076190', 'score': 0.28}, {'connected_gene': 'LOC100418965', 'score': 0.13}, {'connected_gene': 'ST6GALNAC3', 'score': 0.1}]