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
ENST00000377671 [[18269120, 18269248], [18278628, 18278706], [18278932, 18279108], [18285651, 18285822], [18286324, 18286451], [18286941, 18287037], [18295715, 18297640]] [[18286330, 18286451], [18286941, 18287037], [18295715, 18297460]]
ENST00000360010 [[18269148, 18269248], [18278628, 18278706], [18286324, 18286451], [18286941, 18287037], [18287349, 18287391], [18295712, 18295750]] [[18286330, 18286451], [18286941, 18287037], [18287349, 18287391], [18295712, 18295750]]
ENST00000396026 [[18269154, 18269248], [18278628, 18278706], [18286324, 18286451], [18286941, 18287037], [18295712, 18297635]] [[18278703, 18278706], [18286324, 18286451], [18286941, 18287037], [18295712, 18297460]]
ENST00000402618 [[18269163, 18269248], [18286311, 18286451], [18286941, 18287037], [18290812, 18290950], [18295712, 18297569]] [[18290922, 18290950], [18295712, 18297460]]
ENST00000401790 [[18269170, 18269248], [18285651, 18285822], [18286324, 18286451], [18286941, 18287037], [18295712, 18297637]] [[18286330, 18286451], [18286941, 18287037], [18295712, 18297460]]
ENST00000434018 [[18269172, 18269248], [18286311, 18286451], [18286941, 18287037], [18295712, 18295923]] [[18286330, 18286451], [18286941, 18287037], [18295712, 18295923]]
ENST00000538547 [[18269172, 18269248], [18295715, 18297638]] [[18295780, 18297460]]
ENST00000535822 [[18269177, 18269248], [18286962, 18287037], [18295712, 18297630]] [[18295780, 18297460]]
ENST00000316358 [[18278628, 18278706], [18286311, 18286451], [18286941, 18287037], [18295712, 18297640]] [[18286330, 18286451], [18286941, 18287037], [18295712, 18297460]]
ENST00000425686 [[18285728, 18285822], [18286324, 18286451], [18286941, 18287037], [18295712, 18296032]] [[18286330, 18286451], [18286941, 18287037], [18295712, 18296032]]
ENST00000462170 [[18293279, 18295411], [18295712, 18297640]] None
NM_001283005 [[18268926, 18269248], [18295715, 18297640]] [[18269085, 18269248], [18295715, 18297460]]
NM_001283006 [[18268926, 18269248], [18286962, 18287037], [18295712, 18297640]] [[18269085, 18269248], [18286962, 18287037], [18295712, 18297460]]
NM_001283007 [[18268926, 18269248], [18286941, 18287037], [18295715, 18297640]] [[18269085, 18269248], [18286941, 18287037], [18295715, 18297460]]
NM_001282998 [[18268926, 18269248], [18286324, 18286451], [18286941, 18287037], [18295712, 18297640]] [[18286330, 18286451], [18286941, 18287037], [18295712, 18297460]]
NM_001283004 [[18268926, 18269248], [18286324, 18286451], [18286941, 18287037], [18290812, 18290950], [18295712, 18297640]] [[18290922, 18290950], [18295712, 18297460]]
NM_001083330 [[18268926, 18269248], [18286311, 18286451], [18286941, 18287037], [18295715, 18297640]] [[18286330, 18286451], [18286941, 18287037], [18295715, 18297460]]
NM_001282999 [[18268926, 18269248], [18286311, 18286451], [18286941, 18287037], [18295712, 18297640]] [[18286330, 18286451], [18286941, 18287037], [18295712, 18297460]]
NM_001283003 [[18268926, 18269248], [18286311, 18286451], [18286941, 18287037], [18290812, 18290950], [18295712, 18297640]] [[18290922, 18290950], [18295712, 18297460]]
NM_001283008 [[18268926, 18269248], [18286311, 18286451], [18286914, 18287037], [18295712, 18297640]] [[18295780, 18297460]]
NM_001282997 [[18268926, 18269248], [18285651, 18285822], [18286324, 18286451], [18286941, 18287037], [18295712, 18297640]] [[18286330, 18286451], [18286941, 18287037], [18295712, 18297460]]
NM_001283002 [[18268926, 18269248], [18278628, 18278706], [18286324, 18286451], [18286941, 18287037], [18295712, 18297640]] [[18278703, 18278706], [18286324, 18286451], [18286941, 18287037], [18295712, 18297460]]
NM_001282996 [[18268926, 18269248], [18278628, 18278706], [18286324, 18286451], [18286941, 18287037], [18287349, 18287391], [18295712, 18297640]] [[18278703, 18278706], [18286324, 18286451], [18286941, 18287037], [18287349, 18287391], [18295712, 18297460]]
NM_001282995 [[18268926, 18269248], [18278628, 18278706], [18285651, 18285822], [18286324, 18286451], [18286941, 18287037], [18295715, 18297640]] [[18286330, 18286451], [18286941, 18287037], [18295715, 18297460]]
NM_003434 [[18268926, 18269248], [18278628, 18278706], [18278932, 18279108], [18285651, 18285822], [18286324, 18286451], [18286941, 18287037], [18295715, 18297640]] [[18286330, 18286451], [18286941, 18287037], [18295715, 18297460]]
NM_001283001 [[18268926, 18269248], [18270542, 18270718], [18286324, 18286451], [18286941, 18287037], [18295712, 18297640]] [[18286330, 18286451], [18286941, 18287037], [18295712, 18297460]]
NM_001283000 [[18268926, 18269248], [18270542, 18270718], [18286311, 18286451], [18286941, 18287037], [18295712, 18297640]] [[18286330, 18286451], [18286941, 18287037], [18295712, 18297460]]
Promoter
Chrom Start End Description
chr20 18269151 18269212 CAGE_peak_1_at_ZNF133_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr20 GH20I018587 18587317 18589229 2.01 [{'connected_gene': 'DTD1', 'score': 561.25}, {'connected_gene': 'LOC100270804', 'score': 20.78}, {'connected_gene': 'SMIM26', 'score': 13.44}, {'connected_gene': 'ZNF133', 'score': 13.44}, {'connected_gene': 'SEC23B', 'score': 6.38}, {'connected_gene': 'RN7SL638P', 'score': 0.77}]
chr20 GH20I018030 18030932 18034474 0.75 [{'connected_gene': 'MGME1', 'score': 13.29}, {'connected_gene': 'ZNF133', 'score': 11.28}, {'connected_gene': 'ENSG00000229262', 'score': 11.28}, {'connected_gene': 'OVOL2', 'score': 11.28}, {'connected_gene': 'RBBP9', 'score': 9.92}, {'connected_gene': 'GC20P018011', 'score': 0.34}]
chr20 GH20I018287 18287388 18289809 2.06 [{'connected_gene': 'ZNF133', 'score': 550.77}, {'connected_gene': 'ENSG00000237259', 'score': 12.1}, {'connected_gene': 'POLR3F', 'score': 10.38}, {'connected_gene': 'DZANK1', 'score': 10.38}, {'connected_gene': 'GCNT1P1', 'score': 7.92}, {'connected_gene': 'RN7SKP74', 'score': 0.44}, {'connected_gene': 'GC20M018295', 'score': 0.44}]
chr20 GH20I018323 18323357 18325252 0.78 [{'connected_gene': 'ZNF133', 'score': 5.26}, {'connected_gene': 'GC20P018330', 'score': 0.77}, {'connected_gene': 'PIR59157', 'score': 0.44}, {'connected_gene': 'ENSG00000230010', 'score': 0.29}, {'connected_gene': 'LOC105372550', 'score': 0.28}]
chr20 GH20I018585 18585127 18585749 1.1 [{'connected_gene': 'ZNF133', 'score': 14.7}, {'connected_gene': 'LOC100270804', 'score': 13.62}, {'connected_gene': 'POLR3F', 'score': 11.99}, {'connected_gene': 'LOC100286962', 'score': 11.02}, {'connected_gene': 'DZANK1', 'score': 10.75}, {'connected_gene': 'LINC00652', 'score': 10.73}, {'connected_gene': 'DTD1', 'score': 2.17}, {'connected_gene': 'SEC23B', 'score': 1.49}, {'connected_gene': 'RN7SL638P', 'score': 0.44}]
chr20 GH20I018136 18136774 18140461 2.26 [{'connected_gene': 'KAT14', 'score': 556.69}, {'connected_gene': 'PET117', 'score': 550.77}, {'connected_gene': 'ZNF133', 'score': 21.76}, {'connected_gene': 'LOC100270804', 'score': 9.87}, {'connected_gene': 'LOC100286962', 'score': 9.84}, {'connected_gene': 'GC20P018220', 'score': 0.18}, {'connected_gene': 'LOC100529052', 'score': 0.18}]
chr20 GH20I017656 17656938 17657500 0.87 [{'connected_gene': 'BANF2', 'score': 14.23}, {'connected_gene': 'RRBP1', 'score': 12.45}, {'connected_gene': 'ZNF133', 'score': 11.24}, {'connected_gene': 'RBBP9', 'score': 9.9}, {'connected_gene': 'PIR52551', 'score': 0.77}, {'connected_gene': 'PIR38595', 'score': 0.39}]
chr20 GH20I017841 17841192 17844876 1.26 [{'connected_gene': 'BANF2', 'score': 10.95}, {'connected_gene': 'RRBP1', 'score': 10.26}, {'connected_gene': 'ZNF133', 'score': 1.24}, {'connected_gene': 'GC20M017851', 'score': 0.44}, {'connected_gene': 'LOC105372547', 'score': 0.11}]
chr20 GH20I017566 17566971 17573517 2.24 [{'connected_gene': 'DSTN', 'score': 567.86}, {'connected_gene': 'BFSP1', 'score': 550.77}, {'connected_gene': 'RRBP1', 'score': 18.08}, {'connected_gene': 'ZNF133', 'score': 11.77}, {'connected_gene': 'POLR3F', 'score': 10.95}, {'connected_gene': 'BANF2', 'score': 10.23}, {'connected_gene': 'RN7SKP69', 'score': 0.44}, {'connected_gene': 'GC20M017577', 'score': 0.44}]
chr20 GH20I017593 17593526 17595660 1.13 [{'connected_gene': 'DSTN', 'score': 23.89}, {'connected_gene': 'POLR3F', 'score': 14.39}, {'connected_gene': 'BFSP1', 'score': 12.27}, {'connected_gene': 'ZNF133', 'score': 10.69}, {'connected_gene': 'RRBP1', 'score': 9.94}, {'connected_gene': 'LOC100286962', 'score': 0.44}, {'connected_gene': 'RN7SKP69', 'score': 0.37}, {'connected_gene': 'GC20M017577', 'score': 0.37}]
chr20 GH20I018295 18295449 18295803 0.3 [{'connected_gene': 'RN7SKP74', 'score': 550.77}, {'connected_gene': 'GC20M018295', 'score': 550.77}, {'connected_gene': 'POLR3F', 'score': 10.38}, {'connected_gene': 'DZANK1', 'score': 10.38}, {'connected_gene': 'ZNF133', 'score': 0.44}, {'connected_gene': 'ENSG00000237259', 'score': 0.37}]
chr20 GH20I018276 18276779 18277214 1 [{'connected_gene': 'LOC105372551', 'score': 0.44}, {'connected_gene': 'ZNF133', 'score': 0.39}]
chr20 GH20I018271 18271906 18273320 0.76 [{'connected_gene': 'LOC105372551', 'score': 550.77}, {'connected_gene': 'RNU7-137P', 'score': 10.87}, {'connected_gene': 'RPL15P1', 'score': 10.86}, {'connected_gene': 'ZNF133', 'score': 0.37}]
chr20 GH20I017599 17599087 17599947 0.43 [{'connected_gene': 'LOC100286962', 'score': 550.77}, {'connected_gene': 'ZNF133', 'score': 18.45}, {'connected_gene': 'RRBP1', 'score': 9.9}, {'connected_gene': 'RN7SKP69', 'score': 0.34}, {'connected_gene': 'GC20M017577', 'score': 0.34}, {'connected_gene': 'DSTN', 'score': 0.29}]
chr20 GH20I018793 18793457 18795003 1.51 [{'connected_gene': 'LOC100270804', 'score': 557.53}, {'connected_gene': 'LINC00652', 'score': 550.77}, {'connected_gene': 'ZNF133', 'score': 10.69}]
chr20 GH20I018313 18313271 18315836 0.38 [{'connected_gene': 'PIR59157', 'score': 550.77}, {'connected_gene': 'ENSG00000237259', 'score': 550.77}, {'connected_gene': 'GCNT1P1', 'score': 11.46}, {'connected_gene': 'ENSG00000230010', 'score': 7.93}, {'connected_gene': 'DZANK1', 'score': 6.31}, {'connected_gene': 'RN7SKP74', 'score': 0.37}, {'connected_gene': 'GC20M018295', 'score': 0.37}, {'connected_gene': 'ZNF133', 'score': 0.31}, {'connected_gene': 'LOC105372550', 'score': 0.26}]