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
ENST00000502798 [[75378996, 75379337], [75427474, 75428155], [75490743, 75490924], [75505560, 75505712], [75580986, 75581120], [75581605, 75581695], [75587045, 75587156], [75587592, 75587681], [75591602, 75591767], [75594618, 75594752], [75596553, 75596757], [75597210, 75597370], [75621188, 75625904]] [[75427575, 75428155], [75490743, 75490924], [75505560, 75505712], [75580986, 75581120], [75581605, 75581695], [75587045, 75587156], [75587592, 75587681], [75591602, 75591767], [75594618, 75594752], [75596553, 75596757], [75597210, 75597370], [75621188, 75621372]]
ENST00000322285 [[75379238, 75379337], [75427474, 75428155], [75490743, 75490924], [75505560, 75505712], [75580986, 75581120], [75581605, 75581695], [75587045, 75587156], [75587592, 75587681], [75591602, 75591767], [75594618, 75594752], [75596553, 75596757], [75597210, 75597370], [75648954, 75649764]] [[75427575, 75428155], [75490743, 75490924], [75505560, 75505712], [75580986, 75581120], [75581605, 75581695], [75587045, 75587156], [75587592, 75587681], [75591602, 75591767], [75594618, 75594752], [75596553, 75596757], [75597210, 75597370], [75648954, 75648985]]
ENST00000506257 [[75587589, 75587681], [75591602, 75591947]] None
NM_014979 [[75379238, 75379337], [75427474, 75428155], [75490743, 75490924], [75505560, 75505712], [75580986, 75581120], [75581605, 75581695], [75587045, 75587156], [75587592, 75587681], [75591602, 75591767], [75594618, 75594752], [75596553, 75596757], [75597210, 75597370], [75621188, 75629781]] [[75427575, 75428155], [75490743, 75490924], [75505560, 75505712], [75580986, 75581120], [75581605, 75581695], [75587045, 75587156], [75587592, 75587681], [75591602, 75591767], [75594618, 75594752], [75596553, 75596757], [75597210, 75597370], [75621188, 75621372]]
NM_001297716 [[75379238, 75379337], [75427474, 75428155], [75490743, 75490924], [75505560, 75505712], [75580986, 75581120], [75581605, 75581695], [75587045, 75587156], [75587592, 75587681], [75591602, 75591767], [75594618, 75594752], [75596553, 75596757], [75597210, 75597370], [75648954, 75649764]] [[75427575, 75428155], [75490743, 75490924], [75505560, 75505712], [75580986, 75581120], [75581605, 75581695], [75587045, 75587156], [75587592, 75587681], [75591602, 75591767], [75594618, 75594752], [75596553, 75596757], [75597210, 75597370], [75648954, 75648985]]
Promoter
Chrom Start End Description
chr5 75379067 75379080 CAGE_peak_5_at_SV2C_5end
chr5 75379091 75379100 CAGE_peak_6_at_SV2C_5end
chr5 75379158 75379169 CAGE_peak_4_at_SV2C_5end
chr5 75379172 75379184 CAGE_peak_3_at_SV2C_5end
chr5 75379186 75379220 CAGE_peak_1_at_SV2C_5end
chr5 75379224 75379243 CAGE_peak_2_at_SV2C_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I076174 76174825 76176737 1.09 [{'connected_gene': 'RAP1BL', 'score': 550.77}, {'connected_gene': 'SV2C', 'score': 10.88}, {'connected_gene': 'LOC105379041', 'score': 10.88}, {'connected_gene': 'LOC100132039', 'score': 10.88}, {'connected_gene': 'SAP18P1', 'score': 10.87}, {'connected_gene': 'GC05M076242', 'score': 0.2}]
chr5 GH05I076175 76174200 76174401 0.5 [{'connected_gene': 'RAP1BL', 'score': 550.77}, {'connected_gene': 'ENSG00000251668', 'score': 0.77}, {'connected_gene': 'SV2C', 'score': 0.16}]
chr5 GH05I076198 76197216 76197365 0.46 [{'connected_gene': 'SV2C', 'score': 10.94}, {'connected_gene': 'LOC105379041', 'score': 10.94}, {'connected_gene': 'LOC100132039', 'score': 10.93}, {'connected_gene': 'SAP18P1', 'score': 10.93}, {'connected_gene': 'RAP1BL', 'score': 0.34}, {'connected_gene': 'GC05M076242', 'score': 0.25}]
chr5 GH05I076197 76197016 76197165 0.43 [{'connected_gene': 'SV2C', 'score': 10.94}, {'connected_gene': 'LOC105379041', 'score': 10.94}, {'connected_gene': 'LOC100132039', 'score': 10.93}, {'connected_gene': 'SAP18P1', 'score': 10.93}, {'connected_gene': 'RAP1BL', 'score': 0.34}, {'connected_gene': 'GC05M076242', 'score': 0.25}]
chr5 GH05I076191 76191716 76193345 0.31 [{'connected_gene': 'SV2C', 'score': 10.69}, {'connected_gene': 'LOC105379041', 'score': 10.69}, {'connected_gene': 'LOC100132039', 'score': 10.68}, {'connected_gene': 'SAP18P1', 'score': 10.67}, {'connected_gene': 'RAP1BL', 'score': 0.37}, {'connected_gene': 'GC05M076242', 'score': 0.25}]
chr5 GH05I076180 76180440 76182361 1.05 [{'connected_gene': 'SV2C', 'score': 10.88}, {'connected_gene': 'LOC105379041', 'score': 10.88}, {'connected_gene': 'LOC100132039', 'score': 10.87}, {'connected_gene': 'SAP18P1', 'score': 10.86}, {'connected_gene': 'RAP1BL', 'score': 0.44}, {'connected_gene': 'GC05M076242', 'score': 0.21}]
chr5 GH05I075738 75738416 75738744 0.22 [{'connected_gene': 'POC5', 'score': 11.15}, {'connected_gene': 'RNU6-680P', 'score': 10.25}, {'connected_gene': 'SAP18P1', 'score': 10.0}, {'connected_gene': 'LOC105379041', 'score': 9.99}, {'connected_gene': 'SV2C', 'score': 9.99}, {'connected_gene': 'LOC100132039', 'score': 9.99}, {'connected_gene': 'ANKDD1B', 'score': 5.29}, {'connected_gene': 'GC05M075753', 'score': 0.39}, {'connected_gene': 'GC05P075723', 'score': 0.37}]
chr5 GH05I076426 76425765 76427679 0.89 [{'connected_gene': 'IQGAP2', 'score': 21.99}, {'connected_gene': 'ENSG00000272040', 'score': 12.93}, {'connected_gene': 'POC5', 'score': 9.76}, {'connected_gene': 'SAP18P1', 'score': 9.39}, {'connected_gene': 'LOC100132039', 'score': 9.39}, {'connected_gene': 'SV2C', 'score': 9.39}, {'connected_gene': 'LOC105379041', 'score': 9.39}, {'connected_gene': 'LOC101060043', 'score': 0.18}]
chr5 GH05I076324 76324494 76328648 0.77 [{'connected_gene': 'IQGAP2', 'score': 10.98}, {'connected_gene': 'PIR42219', 'score': 0.77}, {'connected_gene': 'LOC105379042', 'score': 0.37}, {'connected_gene': 'SV2C', 'score': 0.07}]
chr5 GH05I076292 76292996 76293225 0.68 [{'connected_gene': 'IQGAP2', 'score': 2.94}, {'connected_gene': 'GC05P076281', 'score': 0.39}, {'connected_gene': 'LOC105379042', 'score': 0.37}, {'connected_gene': 'SV2C', 'score': 0.08}]
chr5 GH05I076337 76337616 76338485 0.9 [{'connected_gene': 'IQGAP2', 'score': 11.94}, {'connected_gene': 'LOC105379042', 'score': 11.76}, {'connected_gene': 'ENSG00000272040', 'score': 10.1}, {'connected_gene': 'GC05P076333', 'score': 0.44}, {'connected_gene': 'SNRPCP2', 'score': 0.28}, {'connected_gene': 'SV2C', 'score': 0.07}]
chr5 GH05I076425 76425001 76425200 0.4 [{'connected_gene': 'SAP18P1', 'score': 9.39}, {'connected_gene': 'LOC100132039', 'score': 9.39}, {'connected_gene': 'SV2C', 'score': 9.39}, {'connected_gene': 'LOC105379041', 'score': 9.39}, {'connected_gene': 'IQGAP2', 'score': 0.34}, {'connected_gene': 'LOC101060043', 'score': 0.17}]
chr5 GH05I076379 76379401 76379600 0.63 [{'connected_gene': 'LOC105379042', 'score': 10.49}, {'connected_gene': 'SV2C', 'score': 8.94}, {'connected_gene': 'LOC105379041', 'score': 8.94}, {'connected_gene': 'SAP18P1', 'score': 8.94}, {'connected_gene': 'LOC100132039', 'score': 8.94}, {'connected_gene': 'GC05P076377', 'score': 0.77}, {'connected_gene': 'GC05P076385', 'score': 0.77}]
chr5 GH05I076290 76290160 76291585 0.57 [{'connected_gene': 'LOC105379042', 'score': 10.94}, {'connected_gene': 'GC05P076281', 'score': 0.44}, {'connected_gene': 'SV2C', 'score': 0.08}]
chr5 GH05I076283 76283796 76283945 0.31 [{'connected_gene': 'LOC105379042', 'score': 11.35}, {'connected_gene': 'GC05P076281', 'score': 0.77}, {'connected_gene': 'SV2C', 'score': 0.08}]
chr5 GH05I076319 76319586 76320425 0.9 [{'connected_gene': 'LOC105379042', 'score': 0.44}, {'connected_gene': 'PIR42219', 'score': 0.39}, {'connected_gene': 'SV2C', 'score': 0.07}]
chr5 GH05I076273 76273315 76274245 0.66 [{'connected_gene': 'LOC105379042', 'score': 11.41}, {'connected_gene': 'LOC105379041', 'score': 10.65}, {'connected_gene': 'SV2C', 'score': 10.65}, {'connected_gene': 'SAP18P1', 'score': 10.65}, {'connected_gene': 'LOC100132039', 'score': 10.65}, {'connected_gene': 'PDCD5P2', 'score': 0.44}, {'connected_gene': 'HMGN2P4', 'score': 0.29}]
chr5 GH05I076082 76082609 76085074 1.5 [{'connected_gene': 'LOC105379041', 'score': 569.07}, {'connected_gene': 'SV2C', 'score': 550.77}]
chr5 GH05I076303 76303864 76304350 1.16 [{'connected_gene': 'LOC105379041', 'score': 9.62}, {'connected_gene': 'SAP18P1', 'score': 9.62}, {'connected_gene': 'LOC100132039', 'score': 9.62}, {'connected_gene': 'SV2C', 'score': 9.62}, {'connected_gene': 'IQGAP2', 'score': 3.09}, {'connected_gene': 'LOC105379042', 'score': 0.44}, {'connected_gene': 'GC05P076281', 'score': 0.34}]
chr5 GH05I076304 76304402 76306000 0.6 [{'connected_gene': 'LOC105379041', 'score': 15.31}, {'connected_gene': 'SAP18P1', 'score': 9.62}, {'connected_gene': 'LOC100132039', 'score': 9.62}, {'connected_gene': 'SV2C', 'score': 9.62}, {'connected_gene': 'LOC105379042', 'score': 0.44}, {'connected_gene': 'GC05P076281', 'score': 0.34}]
chr5 GH05I076037 76037580 76038200 0.64 [{'connected_gene': 'LOC105379041', 'score': 28.31}, {'connected_gene': 'SAP18P1', 'score': 10.9}, {'connected_gene': 'LOC100132039', 'score': 10.89}, {'connected_gene': 'SV2C', 'score': 10.87}, {'connected_gene': 'LOC100996384', 'score': 0.16}]
chr5 GH05I076256 76256201 76256632 0.93 [{'connected_gene': 'LOC100132039', 'score': 11.37}, {'connected_gene': 'SV2C', 'score': 11.37}, {'connected_gene': 'LOC105379041', 'score': 11.37}, {'connected_gene': 'SAP18P1', 'score': 11.37}, {'connected_gene': 'HMGN2P4', 'score': 0.39}, {'connected_gene': 'PDCD5P2', 'score': 0.34}]
chr5 GH05I076333 76332776 76332865 0.38 [{'connected_gene': 'PIR42219', 'score': 550.77}, {'connected_gene': 'GC05P076333', 'score': 550.77}, {'connected_gene': 'POLK', 'score': 11.99}, {'connected_gene': 'IQGAP2', 'score': 11.92}, {'connected_gene': 'LOC105379042', 'score': 11.79}, {'connected_gene': 'POC5', 'score': 11.02}, {'connected_gene': 'ENSG00000272040', 'score': 10.93}, {'connected_gene': 'SNRPCP2', 'score': 0.26}, {'connected_gene': 'SV2C', 'score': 0.07}]
chr5 GH05I076331 76331005 76332385 0.69 [{'connected_gene': 'GC05P076333', 'score': 550.77}, {'connected_gene': 'PIR42219', 'score': 550.77}, {'connected_gene': 'IQGAP2', 'score': 11.92}, {'connected_gene': 'LOC105379042', 'score': 11.79}, {'connected_gene': 'SV2C', 'score': 0.07}]
chr5 GH05I076332 76332876 76332925 0.31 [{'connected_gene': 'GC05P076333', 'score': 550.77}, {'connected_gene': 'PIR42219', 'score': 550.77}, {'connected_gene': 'IQGAP2', 'score': 11.92}, {'connected_gene': 'LOC105379042', 'score': 11.79}, {'connected_gene': 'SNRPCP2', 'score': 0.26}, {'connected_gene': 'SV2C', 'score': 0.07}]
chr5 GH05I076294 76294676 76294825 0.54 [{'connected_gene': 'GC05P076281', 'score': 0.39}, {'connected_gene': 'LOC105379042', 'score': 0.37}, {'connected_gene': 'SV2C', 'score': 0.08}]