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
ENST00000409484 [[172378756, 172378801], [172398094, 172398303], [172409855, 172410010], [172411033, 172412117]] [[172378782, 172378801], [172398094, 172398303], [172409855, 172410010], [172411033, 172411337]]
ENST00000468308 [[172378857, 172379248], [172398094, 172398303], [172407487, 172407650]] None
ENST00000321348 [[172378857, 172379248], [172398094, 172398303], [172409855, 172410010], [172411033, 172414643]] [[172379055, 172379248], [172398094, 172398303], [172409855, 172410010], [172411033, 172411337]]
ENST00000375252 [[172378986, 172379248], [172409855, 172410010], [172411033, 172414156]] [[172379055, 172379248], [172409855, 172410010], [172411033, 172411159]]
ENST00000474182 [[172379019, 172379248], [172396333, 172396381], [172398094, 172398282]] None
ENST00000494587 [[172379020, 172379248], [172397317, 172397638]] None
ENST00000445146 [[172379588, 172379822], [172398094, 172398303], [172409855, 172410010], [172411033, 172411117]] [[172379746, 172379822], [172398094, 172398303], [172409855, 172410010], [172411033, 172411117]]
NM_001256909 [[172378756, 172378801], [172398094, 172398303], [172409855, 172410010], [172411033, 172414643]] [[172378782, 172378801], [172398094, 172398303], [172409855, 172410010], [172411033, 172411337]]
NM_001127383 [[172378865, 172379248], [172409855, 172410010], [172411033, 172414643]] [[172379055, 172379248], [172409855, 172410010], [172411033, 172411159]]
NM_024843 [[172378865, 172379248], [172398094, 172398303], [172409855, 172410010], [172411033, 172414643]] [[172379055, 172379248], [172398094, 172398303], [172409855, 172410010], [172411033, 172411337]]
Promoter
Chrom Start End Description
chr2 172378603 172378632 CAGE_peak_5_at_CYBRD1_5end
chr2 172378976 172378999 CAGE_peak_1_at_CYBRD1_5end
chr2 172379010 172379029 CAGE_peak_2_at_CYBRD1_5end
chr2 172412030 172412046 CAGE_peak_3_at_CYBRD1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I171430 171430548 171435764 2.35 [{'connected_gene': 'DCAF17', 'score': 577.18}, {'connected_gene': 'METTL8', 'score': 569.3}, {'connected_gene': 'DAP3P2', 'score': 33.87}, {'connected_gene': 'GORASP2', 'score': 20.84}, {'connected_gene': 'RPS15P4', 'score': 10.42}, {'connected_gene': 'CYBRD1', 'score': 7.54}, {'connected_gene': 'TLK1', 'score': 1.93}, {'connected_gene': 'GC02M171404', 'score': 0.31}]
chr2 GH02I171408 171408833 171410894 0.79 [{'connected_gene': 'CYBRD1', 'score': 5.33}, {'connected_gene': 'GC02M171404', 'score': 0.77}, {'connected_gene': 'METTL8', 'score': 0.34}, {'connected_gene': 'DCAF17', 'score': 0.34}]
chr2 GH02I171412 171412201 171412400 0.2 [{'connected_gene': 'CYBRD1', 'score': 5.34}, {'connected_gene': 'GC02M171404', 'score': 0.44}, {'connected_gene': 'METTL8', 'score': 0.34}, {'connected_gene': 'DCAF17', 'score': 0.34}]
chr2 GH02I171415 171415656 171416840 1.14 [{'connected_gene': 'CYBRD1', 'score': 5.28}, {'connected_gene': 'GC02M171404', 'score': 0.39}, {'connected_gene': 'METTL8', 'score': 0.37}, {'connected_gene': 'DCAF17', 'score': 0.37}]
chr2 GH02I171482 171482167 171483660 0.49 [{'connected_gene': 'CYBRD1', 'score': 12.17}, {'connected_gene': 'METTL8', 'score': 12.07}, {'connected_gene': 'GC02M171472', 'score': 0.44}, {'connected_gene': 'DAP3P2', 'score': 0.44}, {'connected_gene': 'DCAF17', 'score': 0.25}]
chr2 GH02I171346 171346330 171348682 1.2 [{'connected_gene': 'CYBRD1', 'score': 11.05}, {'connected_gene': 'GC02M171300', 'score': 0.44}, {'connected_gene': 'GC02M171375', 'score': 0.31}, {'connected_gene': 'METTL8', 'score': 0.17}]
chr2 GH02I171513 171513610 171514660 0.88 [{'connected_gene': 'CYBRD1', 'score': 13.42}, {'connected_gene': 'RPS15P4', 'score': 0.77}, {'connected_gene': 'GC02P171494', 'score': 0.34}]
chr2 GH02I171521 171521173 171524888 2.03 [{'connected_gene': 'CYBRD1', 'score': 588.66}, {'connected_gene': 'DAP3P2', 'score': 25.67}, {'connected_gene': 'RPS15P4', 'score': 10.68}, {'connected_gene': 'GORASP2', 'score': 9.9}, {'connected_gene': 'GC02P171545', 'score': 0.34}]
chr2 GH02I171613 171613974 171615587 0.58 [{'connected_gene': 'CYBRD1', 'score': 5.24}, {'connected_gene': 'RPL21P38', 'score': 0.31}, {'connected_gene': 'GC02M171653', 'score': 0.28}]
chr2 GH02I171553 171553971 171554120 0.75 [{'connected_gene': 'CYBRD1', 'score': 16.69}, {'connected_gene': 'GC02M171544', 'score': 0.44}, {'connected_gene': 'GC02M171563', 'score': 0.34}]
chr2 GH02I171574 171574046 171574600 1.04 [{'connected_gene': 'CYBRD1', 'score': 15.53}, {'connected_gene': 'GC02M171563', 'score': 0.77}, {'connected_gene': 'GC02M171544', 'score': 0.31}]
chr2 GH02I171530 171530317 171532506 0.86 [{'connected_gene': 'CYBRD1', 'score': 16.0}, {'connected_gene': 'GC02P171545', 'score': 0.39}]
chr2 GH02I171517 171517401 171517800 0.61 [{'connected_gene': 'RPS15P4', 'score': 550.77}, {'connected_gene': 'CYBRD1', 'score': 20.93}, {'connected_gene': 'GC02P171494', 'score': 0.34}]
chr2 GH02I171490 171490414 171491209 0.31 [{'connected_gene': 'DAP3P2', 'score': 550.77}, {'connected_gene': 'CYBRD1', 'score': 21.61}, {'connected_gene': 'METTL8', 'score': 7.51}, {'connected_gene': 'GC02M171472', 'score': 0.39}, {'connected_gene': 'DCAF17', 'score': 0.22}]
chr2 GH02I171491 171491871 171491960 0.2 [{'connected_gene': 'DAP3P2', 'score': 550.77}, {'connected_gene': 'GC02P171494', 'score': 550.77}, {'connected_gene': 'ENSG00000234061', 'score': 550.77}, {'connected_gene': 'CYBRD1', 'score': 10.78}]
chr2 GH02I171335 171335984 171337339 0.86 [{'connected_gene': 'GC02M171300', 'score': 550.77}, {'connected_gene': 'CYBRD1', 'score': 9.76}, {'connected_gene': 'GC02M171324', 'score': 0.39}, {'connected_gene': 'GC02M171323', 'score': 0.39}, {'connected_gene': 'METTL8', 'score': 0.15}]
chr2 GH02I171314 171314362 171328539 1.3 [{'connected_gene': 'GC02M171318', 'score': 550.77}, {'connected_gene': 'METTL8', 'score': 11.52}, {'connected_gene': 'CYBRD1', 'score': 9.35}, {'connected_gene': 'GC02M171324', 'score': 0.77}, {'connected_gene': 'GC02M171323', 'score': 0.77}, {'connected_gene': 'GC02M171300', 'score': 0.37}]
chr2 GH02I171403 171403048 171407885 1 [{'connected_gene': 'GC02M171404', 'score': 550.77}, {'connected_gene': 'METTL8', 'score': 12.11}, {'connected_gene': 'CYBRD1', 'score': 5.32}, {'connected_gene': 'GC02P171375', 'score': 0.31}]
chr2 GH02I172453 172452098 172452717 0.2 [{'connected_gene': 'ENSG00000226963', 'score': 12.63}, {'connected_gene': 'ITGA6', 'score': 12.6}, {'connected_gene': 'CYBRD1', 'score': 5.14}, {'connected_gene': 'ENSG00000232788', 'score': 0.39}]