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
ENST00000392505 [[179059207, 179059401], [179149653, 179149848], [179170756, 179171013], [179188903, 179188996], [179192982, 179193105], [179196278, 179196332], [179197367, 179197481], [179197597, 179197768], [179201027, 179201160], [179203717, 179203821], [179204398, 179204491], [179209012, 179209087], [179213950, 179214116], [179226408, 179226542], [179236852, 179236960], [179238616, 179238754], [179247146, 179247234], [179247750, 179248004], [179248765, 179248903], [179250184, 179250248], [179251787, 179251866], [179253735, 179253880], [179255799, 179255944], [179257138, 179257265], [179259039, 179259162], [179260177, 179260499]] [[179170911, 179171013], [179188903, 179188996], [179192982, 179193105], [179196278, 179196332], [179197367, 179197481], [179197597, 179197768], [179201027, 179201160], [179203717, 179203821], [179204398, 179204491], [179209012, 179209087], [179213950, 179214116], [179226408, 179226542], [179236852, 179236960], [179238616, 179238754], [179247146, 179247234], [179247750, 179248004], [179248765, 179248903], [179250184, 179250248], [179251787, 179251866], [179253735, 179253880], [179255799, 179255944], [179257138, 179257265], [179259039, 179259162], [179260177, 179260286]]
ENST00000359685 [[179059207, 179059401], [179149653, 179149848], [179170756, 179171013], [179188903, 179188996], [179192982, 179193105], [179196278, 179196332], [179197367, 179197481], [179197597, 179197768], [179201027, 179201160], [179203717, 179203821], [179204398, 179204491], [179213950, 179214116], [179226408, 179226542], [179238616, 179238754], [179247146, 179247234], [179247750, 179248004], [179248765, 179248903], [179250184, 179250248], [179251787, 179251866], [179253735, 179253880], [179255799, 179255944], [179257138, 179257265], [179259039, 179259162], [179260177, 179260499]] [[179170911, 179171013], [179188903, 179188996], [179192982, 179193105], [179196278, 179196332], [179197367, 179197481], [179197597, 179197768], [179201027, 179201160], [179203717, 179203821], [179204398, 179204491], [179213950, 179214116], [179226408, 179226542], [179238616, 179238754], [179247146, 179247234], [179247750, 179248004], [179248765, 179248903], [179250184, 179250248], [179251787, 179251866], [179253735, 179253880], [179255799, 179255944], [179257138, 179257265], [179259039, 179259162], [179260177, 179260286]]
ENST00000357080 [[179059226, 179059401], [179149653, 179149848], [179170756, 179171013], [179188903, 179188996], [179192982, 179193105], [179196278, 179196332], [179197367, 179197481], [179197597, 179197768], [179201027, 179201160], [179203717, 179203821], [179213950, 179214116], [179226408, 179226542], [179238616, 179238754], [179247146, 179247506]] [[179170911, 179171013], [179188903, 179188996], [179192982, 179193105], [179196278, 179196332], [179197367, 179197481], [179197597, 179197768], [179201027, 179201160], [179203717, 179203821], [179213950, 179214116], [179226408, 179226542], [179238616, 179238754], [179247146, 179247341]]
ENST00000409045 [[179059249, 179059401], [179149653, 179149848], [179170756, 179171013], [179188903, 179188996], [179192982, 179193105], [179196278, 179196332], [179197367, 179197481], [179197597, 179197768], [179201027, 179201160], [179203717, 179203821], [179213950, 179214116], [179226408, 179226542], [179236852, 179236960], [179238616, 179238754], [179247146, 179247234], [179247750, 179248004], [179248765, 179248903], [179250184, 179250248], [179251787, 179251866], [179253735, 179253880], [179255799, 179255944], [179257138, 179257265], [179259039, 179259162], [179260177, 179260499]] [[179170911, 179171013], [179188903, 179188996], [179192982, 179193105], [179196278, 179196332], [179197367, 179197481], [179197597, 179197768], [179201027, 179201160], [179203717, 179203821], [179213950, 179214116], [179226408, 179226542], [179236852, 179236960], [179238616, 179238754], [179247146, 179247234], [179247750, 179248004], [179248765, 179248903], [179250184, 179250248], [179251787, 179251866], [179253735, 179253880], [179255799, 179255944], [179257138, 179257265], [179259039, 179259162], [179260177, 179260286]]
ENST00000190611 [[179059375, 179059401], [179149653, 179149848], [179170756, 179171013], [179188903, 179188996], [179192982, 179193105], [179196278, 179196332], [179197367, 179197481], [179197597, 179197768], [179201027, 179201160], [179203717, 179203821], [179204398, 179204491], [179213950, 179214116], [179226408, 179226542], [179236852, 179236960], [179238616, 179238754], [179247146, 179247234], [179247750, 179248004], [179248765, 179248903], [179250184, 179250248], [179251787, 179251866], [179253735, 179253880], [179255799, 179255944], [179257138, 179257265], [179259039, 179259162], [179260177, 179264160]] [[179170911, 179171013], [179188903, 179188996], [179192982, 179193105], [179196278, 179196332], [179197367, 179197481], [179197597, 179197768], [179201027, 179201160], [179203717, 179203821], [179204398, 179204491], [179213950, 179214116], [179226408, 179226542], [179236852, 179236960], [179238616, 179238754], [179247146, 179247234], [179247750, 179248004], [179248765, 179248903], [179250184, 179250248], [179251787, 179251866], [179253735, 179253880], [179255799, 179255944], [179257138, 179257265], [179259039, 179259162], [179260177, 179260286]]
ENST00000409631 [[179149653, 179149848], [179170756, 179171013], [179188903, 179188996], [179192982, 179193105], [179196278, 179196332], [179197367, 179197481], [179197597, 179197768], [179201027, 179201160], [179203717, 179203821], [179204398, 179204491], [179213950, 179214116], [179226408, 179226542], [179238616, 179238754], [179247146, 179247234], [179247750, 179248004], [179248765, 179248903], [179250184, 179250248], [179251787, 179251866], [179253735, 179253880], [179255799, 179255944], [179257138, 179257265], [179259039, 179259162], [179260177, 179260512]] [[179170911, 179171013], [179188903, 179188996], [179192982, 179193105], [179196278, 179196332], [179197367, 179197481], [179197597, 179197768], [179201027, 179201160], [179203717, 179203821], [179204398, 179204491], [179213950, 179214116], [179226408, 179226542], [179238616, 179238754], [179247146, 179247234], [179247750, 179248004], [179248765, 179248903], [179250184, 179250248], [179251787, 179251866], [179253735, 179253880], [179255799, 179255944], [179257138, 179257265], [179259039, 179259162], [179260177, 179260286]]
ENST00000477646 [[179059215, 179059401], [179095152, 179095240], [179149653, 179149765]] None
ENST00000315022 [[179184970, 179185129], [179188903, 179188996], [179192982, 179193105], [179196278, 179196332], [179197367, 179197481], [179197597, 179197768], [179201027, 179201160], [179203717, 179203821], [179204398, 179204491], [179209012, 179209087], [179213950, 179214116], [179226408, 179226542], [179236852, 179236960], [179238616, 179238754], [179247146, 179247234], [179247750, 179248004], [179248765, 179248903], [179250184, 179250248], [179251787, 179251866], [179253735, 179253880], [179255799, 179255944], [179257138, 179257265], [179259039, 179259162], [179260177, 179260348]] [[179185090, 179185129], [179188903, 179188996], [179192982, 179193105], [179196278, 179196332], [179197367, 179197481], [179197597, 179197768], [179201027, 179201160], [179203717, 179203821], [179204398, 179204491], [179209012, 179209087], [179213950, 179214116], [179226408, 179226542], [179236852, 179236960], [179238616, 179238754], [179247146, 179247234], [179247750, 179248004], [179248765, 179248903], [179250184, 179250248], [179251787, 179251866], [179253735, 179253880], [179255799, 179255944], [179257138, 179257265], [179259039, 179259162], [179260177, 179260286]]
ENST00000477097 [[179188296, 179188507], [179188903, 179188996], [179192982, 179193105], [179196278, 179196332], [179197367, 179197428]] None
NM_001201481 [[179059207, 179059401], [179149653, 179149848], [179170756, 179171013], [179188903, 179188996], [179192982, 179193105], [179196278, 179196332], [179197367, 179197481], [179197597, 179197768], [179201027, 179201160], [179203717, 179203821], [179213950, 179214116], [179226408, 179226542], [179236852, 179236960], [179238616, 179238754], [179247146, 179247234], [179247750, 179248004], [179248765, 179248903], [179250184, 179250248], [179251787, 179251866], [179253735, 179253880], [179255799, 179255944], [179257138, 179257265], [179259039, 179259162], [179260177, 179264160]] [[179170911, 179171013], [179188903, 179188996], [179192982, 179193105], [179196278, 179196332], [179197367, 179197481], [179197597, 179197768], [179201027, 179201160], [179203717, 179203821], [179213950, 179214116], [179226408, 179226542], [179236852, 179236960], [179238616, 179238754], [179247146, 179247234], [179247750, 179248004], [179248765, 179248903], [179250184, 179250248], [179251787, 179251866], [179253735, 179253880], [179255799, 179255944], [179257138, 179257265], [179259039, 179259162], [179260177, 179260286]]
NM_001201482 [[179059207, 179059401], [179149653, 179149848], [179170756, 179171013], [179188903, 179188996], [179192982, 179193105], [179196278, 179196332], [179197367, 179197481], [179197597, 179197768], [179201027, 179201160], [179203717, 179203821], [179204398, 179204491], [179213950, 179214116], [179226408, 179226542], [179238616, 179238754], [179247146, 179247234], [179247750, 179248004], [179248765, 179248903], [179250184, 179250248], [179251787, 179251866], [179253735, 179253880], [179255799, 179255944], [179257138, 179257265], [179259039, 179259162], [179260177, 179264160]] [[179170911, 179171013], [179188903, 179188996], [179192982, 179193105], [179196278, 179196332], [179197367, 179197481], [179197597, 179197768], [179201027, 179201160], [179203717, 179203821], [179204398, 179204491], [179213950, 179214116], [179226408, 179226542], [179238616, 179238754], [179247146, 179247234], [179247750, 179248004], [179248765, 179248903], [179250184, 179250248], [179251787, 179251866], [179253735, 179253880], [179255799, 179255944], [179257138, 179257265], [179259039, 179259162], [179260177, 179260286]]
NM_032523 [[179059207, 179059401], [179149653, 179149848], [179170756, 179171013], [179188903, 179188996], [179192982, 179193105], [179196278, 179196332], [179197367, 179197481], [179197597, 179197768], [179201027, 179201160], [179203717, 179203821], [179204398, 179204491], [179213950, 179214116], [179226408, 179226542], [179236852, 179236960], [179238616, 179238754], [179247146, 179247234], [179247750, 179248004], [179248765, 179248903], [179250184, 179250248], [179251787, 179251866], [179253735, 179253880], [179255799, 179255944], [179257138, 179257265], [179259039, 179259162], [179260177, 179264160]] [[179170911, 179171013], [179188903, 179188996], [179192982, 179193105], [179196278, 179196332], [179197367, 179197481], [179197597, 179197768], [179201027, 179201160], [179203717, 179203821], [179204398, 179204491], [179213950, 179214116], [179226408, 179226542], [179236852, 179236960], [179238616, 179238754], [179247146, 179247234], [179247750, 179248004], [179248765, 179248903], [179250184, 179250248], [179251787, 179251866], [179253735, 179253880], [179255799, 179255944], [179257138, 179257265], [179259039, 179259162], [179260177, 179260286]]
NM_001201480 [[179059207, 179059401], [179149653, 179149848], [179170756, 179171013], [179188903, 179188996], [179192982, 179193105], [179196278, 179196332], [179197367, 179197481], [179197597, 179197768], [179201027, 179201160], [179203717, 179203821], [179204398, 179204491], [179209012, 179209087], [179213950, 179214116], [179226408, 179226542], [179236852, 179236960], [179238616, 179238754], [179247146, 179247234], [179247750, 179248004], [179248765, 179248903], [179250184, 179250248], [179251787, 179251866], [179253735, 179253880], [179255799, 179255944], [179257138, 179257265], [179259039, 179259162], [179260177, 179264160]] [[179170911, 179171013], [179188903, 179188996], [179192982, 179193105], [179196278, 179196332], [179197367, 179197481], [179197597, 179197768], [179201027, 179201160], [179203717, 179203821], [179204398, 179204491], [179209012, 179209087], [179213950, 179214116], [179226408, 179226542], [179236852, 179236960], [179238616, 179238754], [179247146, 179247234], [179247750, 179248004], [179248765, 179248903], [179250184, 179250248], [179251787, 179251866], [179253735, 179253880], [179255799, 179255944], [179257138, 179257265], [179259039, 179259162], [179260177, 179260286]]
NM_145739 [[179184970, 179185129], [179188903, 179188996], [179192982, 179193105], [179196278, 179196332], [179197367, 179197481], [179197597, 179197768], [179201027, 179201160], [179203717, 179203821], [179204398, 179204491], [179209012, 179209087], [179213950, 179214116], [179226408, 179226542], [179236852, 179236960], [179238616, 179238754], [179247146, 179247234], [179247750, 179248004], [179248765, 179248903], [179250184, 179250248], [179251787, 179251866], [179253735, 179253880], [179255799, 179255944], [179257138, 179257265], [179259039, 179259162], [179260177, 179264160]] [[179185090, 179185129], [179188903, 179188996], [179192982, 179193105], [179196278, 179196332], [179197367, 179197481], [179197597, 179197768], [179201027, 179201160], [179203717, 179203821], [179204398, 179204491], [179209012, 179209087], [179213950, 179214116], [179226408, 179226542], [179236852, 179236960], [179238616, 179238754], [179247146, 179247234], [179247750, 179248004], [179248765, 179248903], [179250184, 179250248], [179251787, 179251866], [179253735, 179253880], [179255799, 179255944], [179257138, 179257265], [179259039, 179259162], [179260177, 179260286]]
Promoter
Chrom Start End Description
chr2 179059188 179059250 CAGE_peak_1_at_OSBPL6_5end
chr2 179059251 179059270 CAGE_peak_2_at_OSBPL6_5end
chr2 179059365 179059376 CAGE_peak_3_at_OSBPL6_5end
chr2 179149636 179149662 CAGE_peak_5_at_OSBPL6_5end
chr2 179184955 179185003 CAGE_peak_6_at_OSBPL6_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I177997 177997398 177999164 0.2 [{'connected_gene': 'API5P2', 'score': 550.77}, {'connected_gene': 'PDE11A', 'score': 8.2}, {'connected_gene': 'OSBPL6', 'score': 5.54}, {'connected_gene': 'RBM45', 'score': 3.92}, {'connected_gene': 'GC02M177991', 'score': 0.44}, {'connected_gene': 'ENSG00000236664', 'score': 0.39}, {'connected_gene': 'ENSG00000284741', 'score': 0.14}]
chr2 GH02I178858 178858801 178860740 0.63 [{'connected_gene': 'TTN', 'score': 11.55}, {'connected_gene': 'RNU7-104P', 'score': 11.55}, {'connected_gene': 'CCDC141', 'score': 4.99}, {'connected_gene': 'OSBPL6', 'score': 4.18}, {'connected_gene': 'LOC105373766', 'score': 0.29}, {'connected_gene': 'GC02P178916', 'score': 0.22}]
chr2 GH02I178233 178233111 178235043 0.31 [{'connected_gene': 'OSBPL6', 'score': 17.19}, {'connected_gene': 'FKBP7', 'score': 5.3}, {'connected_gene': 'GC02M178238', 'score': 0.44}, {'connected_gene': 'GC02M178202', 'score': 0.29}]
chr2 GH02I178330 178330515 178334371 0.74 [{'connected_gene': 'OSBPL6', 'score': 6.31}, {'connected_gene': 'LOC101927027', 'score': 4.92}, {'connected_gene': 'GC02M178285', 'score': 0.25}, {'connected_gene': 'GC02P178401', 'score': 0.2}]
chr2 GH02I178327 178327283 178328896 0.38 [{'connected_gene': 'OSBPL6', 'score': 6.31}, {'connected_gene': 'LOC101927027', 'score': 4.91}, {'connected_gene': 'GC02M178285', 'score': 0.26}, {'connected_gene': 'GC02P178401', 'score': 0.19}]
chr2 GH02I178245 178245673 178247080 0.38 [{'connected_gene': 'OSBPL6', 'score': 20.61}, {'connected_gene': 'RNU5E-9P', 'score': 10.9}, {'connected_gene': 'LOC100130691', 'score': 6.45}, {'connected_gene': 'GC02M178241', 'score': 0.77}, {'connected_gene': 'GC02M178285', 'score': 0.28}]
chr2 GH02I178152 178152267 178154000 0.74 [{'connected_gene': 'OSBPL6', 'score': 10.47}, {'connected_gene': 'GC02M178161', 'score': 0.44}, {'connected_gene': 'RNU5E-9P', 'score': 0.39}]
chr2 GH02I178218 178218391 178218509 0.23 [{'connected_gene': 'OSBPL6', 'score': 8.78}, {'connected_gene': 'GC02M178202', 'score': 0.37}, {'connected_gene': 'GC02M178238', 'score': 0.34}]
chr2 GH02I178281 178281734 178282778 0.6 [{'connected_gene': 'OSBPL6', 'score': 19.85}, {'connected_gene': 'GC02M178285', 'score': 0.77}, {'connected_gene': 'GC02M178241', 'score': 0.26}]
chr2 GH02I178212 178212094 178212263 0.49 [{'connected_gene': 'OSBPL6', 'score': 5.85}, {'connected_gene': 'GC02M178202', 'score': 0.44}, {'connected_gene': 'GC02M178238', 'score': 0.31}]
chr2 GH02I178320 178320200 178320259 0.5 [{'connected_gene': 'OSBPL6', 'score': 550.13}, {'connected_gene': 'GC02M178285', 'score': 0.29}, {'connected_gene': 'GC02P178401', 'score': 0.18}]
chr2 GH02I178191 178191357 178191498 0.56 [{'connected_gene': 'OSBPL6', 'score': 0.77}, {'connected_gene': 'GC02M178161', 'score': 0.31}]
chr2 GH02I178193 178193452 178196001 2.02 [{'connected_gene': 'OSBPL6', 'score': 558.13}, {'connected_gene': 'GC02M178202', 'score': 0.44}]
chr2 GH02I178362 178362931 178363854 0.56 [{'connected_gene': 'GC02P178401', 'score': 0.28}, {'connected_gene': 'GC02M178285', 'score': 0.18}, {'connected_gene': 'OSBPL6', 'score': 0.1}]
chr2 GH02I178267 178267815 178267903 0.45 [{'connected_gene': 'GC02M178285', 'score': 0.37}, {'connected_gene': 'GC02M178241', 'score': 0.31}, {'connected_gene': 'OSBPL6', 'score': 0.19}]
chr2 GH02I178296 178296714 178296863 0.38 [{'connected_gene': 'GC02M178285', 'score': 0.39}, {'connected_gene': 'GC02P178401', 'score': 0.15}, {'connected_gene': 'OSBPL6', 'score': 0.15}]
chr2 GH02I178298 178298119 178299506 0.84 [{'connected_gene': 'GC02M178285', 'score': 0.39}, {'connected_gene': 'GC02P178401', 'score': 0.15}, {'connected_gene': 'OSBPL6', 'score': 0.15}]
chr2 GH02I178271 178271943 178272703 0.46 [{'connected_gene': 'GC02M178285', 'score': 0.39}, {'connected_gene': 'GC02M178241', 'score': 0.29}, {'connected_gene': 'OSBPL6', 'score': 0.18}]
chr2 GH02I178206 178206234 178206403 0.49 [{'connected_gene': 'GC02M178202', 'score': 0.77}, {'connected_gene': 'OSBPL6', 'score': 0.39}, {'connected_gene': 'GC02M178238', 'score': 0.29}]
chr2 GH02I178387 178387074 178387223 0.2 [{'connected_gene': 'GC02P178401', 'score': 0.39}, {'connected_gene': 'GC02M178285', 'score': 0.15}, {'connected_gene': 'OSBPL6', 'score': 0.08}]
chr2 GH02I178277 178277471 178280208 1.15 [{'connected_gene': 'ENSG00000270956', 'score': 13.76}, {'connected_gene': 'GC02M178285', 'score': 0.44}, {'connected_gene': 'GC02M178241', 'score': 0.28}, {'connected_gene': 'OSBPL6', 'score': 0.18}]
chr2 GH02I178241 178241416 178243566 1.12 [{'connected_gene': 'GC02M178241', 'score': 550.77}, {'connected_gene': 'OSBPL6', 'score': 17.47}, {'connected_gene': 'GC02M178285', 'score': 0.26}]
chr2 GH02I178273 178273854 178273963 0.98 [{'connected_gene': 'GC02M178285', 'score': 0.39}, {'connected_gene': 'GC02M178241', 'score': 0.29}, {'connected_gene': 'OSBPL6', 'score': 0.18}]

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