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
ENST00000399598 [[59323822, 59324028], [59329408, 59329512], [59343077, 59343228], [59345718, 59345802], [59346953, 59347063], [59352191, 59352329], [59358465, 59358627], [59359947, 59364060]] [[59323944, 59324028], [59329408, 59329512], [59343077, 59343228], [59345718, 59345802], [59346953, 59347063], [59352191, 59352329], [59358465, 59358627], [59359947, 59360110]]
ENST00000522978 [[59323917, 59324028], [59325857, 59325930], [59329408, 59329512], [59343077, 59343228], [59345718, 59345802], [59346953, 59347063], [59347416, 59347500]] None
ENST00000520732 [[59323939, 59324028], [59329408, 59329512], [59345718, 59345802], [59346953, 59347063], [59352191, 59352329], [59358465, 59358624]] [[59323944, 59324028], [59329408, 59329512], [59345718, 59345802], [59346953, 59346996]]
ENST00000523409 [[59323939, 59324028], [59329408, 59329512], [59343077, 59343228], [59345718, 59345802], [59346953, 59347063], [59347416, 59347507], [59352191, 59352329], [59358465, 59358627], [59359947, 59360243]] [[59323944, 59324028], [59329408, 59329512], [59343077, 59343228], [59345718, 59345802], [59346953, 59347063], [59347416, 59347474]]
ENST00000521796 [[59329488, 59329512], [59343077, 59343228], [59345718, 59345802], [59346953, 59347063], [59347416, 59347665]] [[59329488, 59329512], [59343077, 59343228], [59345718, 59345802], [59346953, 59347063], [59347416, 59347474]]
NM_001330535 [[59323822, 59324028], [59329408, 59329512], [59343077, 59343228], [59345718, 59345802], [59346953, 59347063], [59347416, 59347665]] [[59323944, 59324028], [59329408, 59329512], [59343077, 59343228], [59345718, 59345802], [59346953, 59347063], [59347416, 59347474]]
NM_001077619 [[59323822, 59324028], [59329408, 59329512], [59343077, 59343228], [59345718, 59345802], [59346953, 59347063], [59352191, 59352329], [59358465, 59358627], [59359947, 59364060]] [[59323944, 59324028], [59329408, 59329512], [59343077, 59343228], [59345718, 59345802], [59346953, 59347063], [59352191, 59352329], [59358465, 59358627], [59359947, 59360110]]
Promoter
Chrom Start End Description
chr8 59323892 59323947 CAGE_peak_1_at_UBXN2B_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I058377 58377882 58379175 1.09 [{'connected_gene': 'FAM110B', 'score': 11.14}, {'connected_gene': 'UBXN2B', 'score': 7.96}, {'connected_gene': 'GC08P058299', 'score': 0.18}]
chr8 GH08I058578 58578907 58579242 0.44 [{'connected_gene': 'SDCBP', 'score': 13.05}, {'connected_gene': 'UBXN2B', 'score': 6.81}, {'connected_gene': 'RPS26P7', 'score': 0.44}]
chr8 GH08I058457 58457711 58459750 0.62 [{'connected_gene': 'SDCBP', 'score': 5.95}, {'connected_gene': 'UBXN2B', 'score': 5.95}, {'connected_gene': 'GC08M058432', 'score': 0.39}, {'connected_gene': 'CYP7A1', 'score': 0.26}]
chr8 GH08I058395 58395202 58398442 1.5 [{'connected_gene': 'SDCBP', 'score': 16.67}, {'connected_gene': 'UBXN2B', 'score': 14.27}, {'connected_gene': 'GC08P058299', 'score': 0.15}]
chr8 GH08I058399 58399114 58399556 0.45 [{'connected_gene': 'SDCBP', 'score': 8.11}, {'connected_gene': 'UBXN2B', 'score': 0.39}, {'connected_gene': 'GC08P058299', 'score': 0.15}]
chr8 GH08I058587 58587168 58587327 0.44 [{'connected_gene': 'RPS26P7', 'score': 550.77}, {'connected_gene': 'SDCBP', 'score': 7.19}, {'connected_gene': 'NSMAF', 'score': 1.79}, {'connected_gene': 'UBXN2B', 'score': 1.45}]
chr8 GH08I058254 58254935 58258308 1.2 [{'connected_gene': 'UBXN2B', 'score': 6.98}, {'connected_gene': 'FAM110B', 'score': 6.75}, {'connected_gene': 'LOC101929528', 'score': 5.82}, {'connected_gene': 'GC08M057799', 'score': 0.15}]
chr8 GH08I058309 58309572 58310623 0.69 [{'connected_gene': 'UBXN2B', 'score': 8.3}, {'connected_gene': 'FAM110B', 'score': 7.01}, {'connected_gene': 'GC08P058299', 'score': 0.39}]
chr8 GH08I058392 58392735 58393073 0.72 [{'connected_gene': 'UBXN2B', 'score': 14.23}, {'connected_gene': 'SDCBP', 'score': 8.82}, {'connected_gene': 'GC08P058299', 'score': 0.16}]
chr8 GH08I058873 58873879 58873988 0.23 [{'connected_gene': 'UBXN2B', 'score': 1.44}, {'connected_gene': 'GC08P058884', 'score': 0.39}, {'connected_gene': 'RNU4-50P', 'score': 0.22}, {'connected_gene': 'GC08M058815', 'score': 0.22}, {'connected_gene': 'TOX', 'score': 0.07}]
chr8 GH08I058811 58811964 58812944 0.31 [{'connected_gene': 'UBXN2B', 'score': 5.75}, {'connected_gene': 'RNU4-50P', 'score': 0.77}, {'connected_gene': 'GC08M058815', 'score': 0.77}, {'connected_gene': 'LOC105375858', 'score': 0.21}, {'connected_gene': 'TOX', 'score': 0.06}]
chr8 GH08I058274 58274594 58276549 0.31 [{'connected_gene': 'UBXN2B', 'score': 7.05}, {'connected_gene': 'LOC101929528', 'score': 5.01}, {'connected_gene': 'GC08P058299', 'score': 0.34}]
chr8 GH08I058410 58410762 58412451 1.98 [{'connected_gene': 'UBXN2B', 'score': 571.56}, {'connected_gene': 'LOC100421822', 'score': 0.37}]
chr8 GH08I058321 58321282 58322436 0.66 [{'connected_gene': 'UBXN2B', 'score': 8.33}, {'connected_gene': 'GC08P058299', 'score': 0.34}]
chr8 GH08I058503 58503405 58506162 0.31 [{'connected_gene': 'PPIAP85', 'score': 550.77}, {'connected_gene': 'UBXN2B', 'score': 8.47}, {'connected_gene': 'SDCBP', 'score': 7.41}, {'connected_gene': 'LOC105375857', 'score': 0.39}]
chr8 GH08I058297 58297457 58298173 0.2 [{'connected_gene': 'GC08P058299', 'score': 550.77}, {'connected_gene': 'UBXN2B', 'score': 7.23}, {'connected_gene': 'LOC101929528', 'score': 0.31}]
chr8 GH08I058299 58299481 58301056 0.31 [{'connected_gene': 'GC08P058299', 'score': 550.77}, {'connected_gene': 'UBXN2B', 'score': 4.86}]