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
ENST00000376261 [[26505235, 26505814], [26506538, 26506598], [26506770, 26506920], [26507971, 26508205], [26512815, 26512906], [26513467, 26513580], [26518590, 26518706], [26534849, 26534929], [26558047, 26558102], [26559568, 26559685], [26562564, 26562629], [26569937, 26570016], [26575273, 26575423], [26581393, 26581501], [26581830, 26581920], [26589716, 26593487]] [[26505738, 26505814], [26506538, 26506598], [26506770, 26506920], [26507971, 26508205], [26512815, 26512906], [26513467, 26513580], [26518590, 26518706], [26534849, 26534929], [26558047, 26558102], [26559568, 26559685], [26562564, 26562629], [26569937, 26570016], [26575273, 26575423], [26581393, 26581501], [26581830, 26581920], [26589716, 26589890]]
ENST00000259271 [[26505593, 26505814], [26506538, 26506598], [26506770, 26506920], [26507971, 26508205], [26512815, 26512906], [26513467, 26513580], [26518590, 26518706], [26534849, 26534929], [26558047, 26558102], [26559568, 26559685], [26562564, 26562629], [26569937, 26570016], [26575273, 26575423], [26581393, 26581501], [26581830, 26581920], [26589716, 26589924], [26592962, 26593487]] [[26505738, 26505814], [26506538, 26506598], [26506770, 26506920], [26507971, 26508205], [26512815, 26512906], [26513467, 26513580], [26518590, 26518706], [26534849, 26534929], [26558047, 26558102], [26559568, 26559685], [26562564, 26562629], [26569937, 26570016], [26575273, 26575423], [26581393, 26581501], [26581830, 26581920], [26589716, 26589890]]
ENST00000428517 [[26505661, 26505814], [26506538, 26506598], [26506770, 26506920], [26507971, 26508249]] [[26505738, 26505814], [26506538, 26506598], [26506770, 26506920], [26507971, 26508249]]
ENST00000376248 [[26507121, 26507254], [26507971, 26508205], [26512815, 26512906], [26513467, 26513689]] [[26508027, 26508205], [26512815, 26512906], [26513467, 26513588]]
NM_001134366 [[26505235, 26505814], [26506538, 26506598], [26506770, 26506920], [26507971, 26508205], [26512815, 26512906], [26513467, 26513580], [26518590, 26518706], [26534849, 26534929], [26558047, 26558102], [26559568, 26559685], [26562564, 26562629], [26569937, 26570016], [26575273, 26575423], [26581393, 26581501], [26581830, 26581920], [26589716, 26590048]] [[26505738, 26505814], [26506538, 26506598], [26506770, 26506920], [26507971, 26508205], [26512815, 26512906], [26513467, 26513580], [26518590, 26518706], [26534849, 26534929], [26558047, 26558102], [26559568, 26559685], [26562564, 26562629], [26569937, 26570016], [26575273, 26575423], [26581393, 26581501], [26581830, 26581920], [26589716, 26589890]]
NM_000818 [[26505235, 26505814], [26506538, 26506598], [26506770, 26506920], [26507971, 26508205], [26512815, 26512906], [26513467, 26513580], [26518590, 26518706], [26534849, 26534929], [26558047, 26558102], [26559568, 26559685], [26562564, 26562629], [26569937, 26570016], [26575273, 26575423], [26581393, 26581501], [26581830, 26581920], [26589716, 26589924], [26592962, 26593491]] [[26505738, 26505814], [26506538, 26506598], [26506770, 26506920], [26507971, 26508205], [26512815, 26512906], [26513467, 26513580], [26518590, 26518706], [26534849, 26534929], [26558047, 26558102], [26559568, 26559685], [26562564, 26562629], [26569937, 26570016], [26575273, 26575423], [26581393, 26581501], [26581830, 26581920], [26589716, 26589890]]
Promoter
Chrom Start End Description
chr10 26505179 26505186 CAGE_peak_13_at_GAD2_5end
chr10 26505290 26505312 CAGE_peak_4_at_GAD2_5end
chr10 26505329 26505346 CAGE_peak_6_at_GAD2_5end
chr10 26505387 26505457 CAGE_peak_2_at_GAD2_5end
chr10 26505642 26505653 CAGE_peak_5_at_GAD2_5end
chr10 26505670 26505692 CAGE_peak_3_at_GAD2_5end
chr10 26505695 26505714 CAGE_peak_1_at_GAD2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I026000 26000970 26001166 0.23 [{'connected_gene': 'MYO3A', 'score': 15.42}, {'connected_gene': 'GAD2', 'score': 2.5}, {'connected_gene': 'GC10P025995', 'score': 0.44}, {'connected_gene': 'GC10P026192', 'score': 0.08}]
chr10 GH10I025933 25933720 25935132 1.9 [{'connected_gene': 'MYO3A', 'score': 581.65}, {'connected_gene': 'LOC101929073', 'score': 550.77}, {'connected_gene': 'GAD2', 'score': 4.91}, {'connected_gene': 'GC10P025995', 'score': 0.21}]
chr10 GH10I026213 26213880 26214981 0.6 [{'connected_gene': 'GAD2', 'score': 554.17}, {'connected_gene': 'GC10M026212', 'score': 550.77}, {'connected_gene': 'MYO3A', 'score': 1.96}, {'connected_gene': 'GC10P026192', 'score': 0.34}]
chr10 GH10I026284 26284570 26284589 0.22 [{'connected_gene': 'GAD2', 'score': 2.6}, {'connected_gene': 'GC10P026297', 'score': 0.39}]
chr10 GH10I026277 26277993 26278126 0.34 [{'connected_gene': 'GAD2', 'score': 1.69}, {'connected_gene': 'GC10P026297', 'score': 0.37}]
chr10 GH10I026218 26218072 26218221 0.43 [{'connected_gene': 'GC10M026212', 'score': 550.77}, {'connected_gene': 'GAD2', 'score': 550.77}, {'connected_gene': 'GC10P026297', 'score': 0.18}]
chr10 GH10I026216 26216252 26216401 1.26 [{'connected_gene': 'GC10M026212', 'score': 550.77}, {'connected_gene': 'GAD2', 'score': 550.77}, {'connected_gene': 'GC10P026297', 'score': 0.18}]
chr10 GH10I026217 26217852 26217941 0.46 [{'connected_gene': 'GC10M026212', 'score': 550.77}, {'connected_gene': 'GAD2', 'score': 550.77}, {'connected_gene': 'GC10P026297', 'score': 0.18}]
chr10 GH10I026219 26216725 26216784 0.84 [{'connected_gene': 'GC10M026212', 'score': 550.77}, {'connected_gene': 'GAD2', 'score': 550.77}, {'connected_gene': 'GC10P026297', 'score': 0.18}]
chr10 GH10I026215 26215112 26215261 0.43 [{'connected_gene': 'GC10M026212', 'score': 550.77}, {'connected_gene': 'GAD2', 'score': 550.77}, {'connected_gene': 'GC10P026192', 'score': 0.34}]