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
ENST00000458031 [[52009065, 52009220], [52011886, 52012098], [52012274, 52012390], [52018062, 52018174], [52019222, 52019287], [52019376, 52019481], [52019867, 52019962], [52020270, 52020347], [52020430, 52020520], [52020620, 52020677], [52021003, 52021077], [52021162, 52021212], [52021324, 52021469], [52021571, 52021640], [52022539, 52022619], [52022781, 52022842], [52022926, 52023199]] [[52011962, 52012098], [52012274, 52012390], [52018062, 52018174], [52019222, 52019287], [52019376, 52019481], [52019867, 52019962], [52020270, 52020347], [52020430, 52020520], [52020620, 52020677], [52021003, 52021077], [52021162, 52021212], [52021324, 52021469], [52021571, 52021640], [52022539, 52022619], [52022781, 52022842], [52022926, 52023091]]
ENST00000496679 [[52017355, 52017605], [52018062, 52018417]] None
ENST00000494103 [[52017458, 52017605], [52018062, 52018174], [52019222, 52019287], [52019376, 52019481], [52019867, 52019913], [52020620, 52020677], [52021003, 52021077], [52021162, 52021212], [52021324, 52021469], [52021571, 52021640], [52022539, 52022619], [52022781, 52022842], [52022926, 52023213]] [[52018080, 52018174], [52019222, 52019287], [52019376, 52019481], [52019867, 52019913], [52020620, 52020677], [52021003, 52021077], [52021162, 52021212], [52021324, 52021469], [52021571, 52021640], [52022539, 52022619], [52022781, 52022842], [52022926, 52023091]]
ENST00000476854 [[52017458, 52017605], [52018062, 52018174], [52019222, 52019287], [52019376, 52019481], [52019867, 52019962], [52020270, 52020347], [52020430, 52020520], [52020620, 52020677], [52021003, 52021077], [52021571, 52021640], [52022539, 52022619], [52022781, 52022842], [52022926, 52023213]] [[52018080, 52018174], [52019222, 52019287], [52019376, 52019481], [52019867, 52019962], [52020270, 52020347], [52020430, 52020520], [52020620, 52020677], [52021003, 52021077], [52021571, 52021640], [52022539, 52022619], [52022781, 52022842], [52022926, 52023091]]
ENST00000476351 [[52017458, 52017605], [52018062, 52018174], [52019416, 52019481], [52019867, 52019962], [52020270, 52020347], [52020430, 52020520], [52020620, 52020677], [52021003, 52021077], [52021162, 52021212], [52021324, 52021469], [52021571, 52021640], [52022539, 52022619], [52022781, 52022842], [52022926, 52023213]] [[52018080, 52018174], [52019416, 52019481], [52019867, 52019962], [52020270, 52020347], [52020430, 52020520], [52020620, 52020677], [52021003, 52021077], [52021162, 52021212], [52021324, 52021469], [52021571, 52021640], [52022539, 52022619], [52022781, 52022842], [52022926, 52023091]]
ENST00000491318 [[52017458, 52017605], [52018062, 52018174], [52019222, 52019287], [52019376, 52019481], [52019867, 52019962], [52020270, 52020347], [52020430, 52020520], [52020620, 52020677], [52021324, 52021469], [52021571, 52021640], [52022539, 52022619], [52022781, 52022842], [52022926, 52023213]] [[52018080, 52018174], [52019222, 52019287], [52019376, 52019481], [52019867, 52019962], [52020270, 52020347], [52020430, 52020520], [52020620, 52020677], [52021324, 52021347]]
ENST00000404366 [[52017477, 52017605], [52018062, 52018174], [52019222, 52019287], [52019376, 52019481], [52019867, 52019962], [52020270, 52020347], [52020430, 52020520], [52020620, 52020677], [52021003, 52021077], [52021162, 52021212], [52021324, 52021469], [52021571, 52021640], [52022539, 52022619], [52022781, 52022842], [52022926, 52023162]] [[52018080, 52018174], [52019222, 52019287], [52019376, 52019481], [52019867, 52019962], [52020270, 52020347], [52020430, 52020520], [52020620, 52020677], [52021003, 52021077], [52021162, 52021212], [52021324, 52021469], [52021571, 52021640], [52022539, 52022619], [52022781, 52022842], [52022926, 52023091]]
ENST00000465121 [[52017550, 52017605], [52018062, 52018174], [52019222, 52019287], [52019376, 52019481], [52019867, 52019962], [52020270, 52020347], [52020430, 52020520], [52020620, 52020677], [52021003, 52021077], [52021162, 52021212], [52021324, 52021469], [52021571, 52022246]] None
ENST00000469863 [[52017552, 52017605], [52018062, 52018174], [52019222, 52019287], [52019349, 52019481], [52019867, 52019962], [52020270, 52020347], [52020430, 52020520], [52020620, 52020677], [52021003, 52021077]] [[52018080, 52018174], [52019222, 52019287], [52019349, 52019481], [52019867, 52019962], [52020270, 52020347], [52020430, 52020520], [52020620, 52020677], [52021003, 52021077]]
ENST00000468068 [[52018860, 52019287], [52019376, 52019481], [52019867, 52019962], [52020270, 52020297]] None
ENST00000464587 [[52020225, 52020347], [52020430, 52020520], [52020620, 52020677], [52021003, 52021077], [52021162, 52021212], [52021324, 52021470]] None
ENST00000490244 [[52022317, 52022842], [52022926, 52022996]] None
NM_001198895 [[52017299, 52017600], [52018062, 52018174], [52019222, 52019287], [52019376, 52019481], [52019867, 52019962], [52020270, 52020347], [52020430, 52020520], [52020620, 52020677], [52021003, 52021077], [52021162, 52021212], [52021324, 52021469], [52021571, 52021640], [52022539, 52022619], [52022781, 52022842], [52022926, 52023218]] [[52018080, 52018174], [52019222, 52019287], [52019376, 52019481], [52019867, 52019962], [52020270, 52020347], [52020430, 52020520], [52020620, 52020677], [52021003, 52021077], [52021162, 52021212], [52021324, 52021469], [52021571, 52021640], [52022539, 52022619], [52022781, 52022842], [52022926, 52023091]]
NM_001198898 [[52017299, 52017605], [52018062, 52018174], [52019416, 52019481], [52019867, 52019962], [52020270, 52020347], [52020430, 52020520], [52020620, 52020677], [52021003, 52021077], [52021162, 52021212], [52021324, 52021469], [52021571, 52021640], [52022539, 52022619], [52022781, 52022842], [52022926, 52023218]] [[52018080, 52018174], [52019416, 52019481], [52019867, 52019962], [52020270, 52020347], [52020430, 52020520], [52020620, 52020677], [52021003, 52021077], [52021162, 52021212], [52021324, 52021469], [52021571, 52021640], [52022539, 52022619], [52022781, 52022842], [52022926, 52023091]]
NM_001198896 [[52017299, 52017605], [52018062, 52018174], [52019222, 52019287], [52019376, 52019481], [52019867, 52019913], [52020620, 52020677], [52021003, 52021077], [52021162, 52021212], [52021324, 52021469], [52021571, 52021640], [52022539, 52022619], [52022781, 52022842], [52022926, 52023218]] [[52018080, 52018174], [52019222, 52019287], [52019376, 52019481], [52019867, 52019913], [52020620, 52020677], [52021003, 52021077], [52021162, 52021212], [52021324, 52021469], [52021571, 52021640], [52022539, 52022619], [52022781, 52022842], [52022926, 52023091]]
NM_001198897 [[52017299, 52017605], [52018062, 52018174], [52019222, 52019287], [52019376, 52019481], [52019867, 52019962], [52020270, 52020347], [52020430, 52020520], [52020620, 52020677], [52021003, 52021077], [52021571, 52021640], [52022539, 52022619], [52022781, 52022842], [52022926, 52023218]] [[52018080, 52018174], [52019222, 52019287], [52019376, 52019481], [52019867, 52019962], [52020270, 52020347], [52020430, 52020520], [52020620, 52020677], [52021003, 52021077], [52021571, 52021640], [52022539, 52022619], [52022781, 52022842], [52022926, 52023091]]
NM_000666 [[52017299, 52017605], [52018062, 52018174], [52019222, 52019287], [52019376, 52019481], [52019867, 52019962], [52020270, 52020347], [52020430, 52020520], [52020620, 52020677], [52021003, 52021077], [52021162, 52021212], [52021324, 52021469], [52021571, 52021640], [52022539, 52022619], [52022781, 52022842], [52022926, 52023218]] [[52018080, 52018174], [52019222, 52019287], [52019376, 52019481], [52019867, 52019962], [52020270, 52020347], [52020430, 52020520], [52020620, 52020677], [52021003, 52021077], [52021162, 52021212], [52021324, 52021469], [52021571, 52021640], [52022539, 52022619], [52022781, 52022842], [52022926, 52023091]]
Promoter
Chrom Start End Description
chr3 52017283 52017310 CAGE_peak_2_at_ACY1_5end
chr3 52017352 52017364 CAGE_peak_4_at_ACY1_5end
chr3 52017454 52017572 CAGE_peak_1_at_ACY1_5end
chr3 52020178 52020227 CAGE_peak_3_at_ACY1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I051980 51980789 51987619 2.27 [{'connected_gene': 'ABHD14B', 'score': 550.77}, {'connected_gene': 'ACY1', 'score': 550.77}, {'connected_gene': 'GPR62', 'score': 15.16}, {'connected_gene': 'PARP3', 'score': 7.59}, {'connected_gene': 'RPL29', 'score': 5.93}, {'connected_gene': 'ABHD14A-ACY1', 'score': 0.44}, {'connected_gene': 'ABHD14A', 'score': 0.39}]
chr3 GH03I051973 51973200 51977017 2.24 [{'connected_gene': 'PCBP4', 'score': 550.77}, {'connected_gene': 'ABHD14A-ACY1', 'score': 550.77}, {'connected_gene': 'ABHD14A', 'score': 550.77}, {'connected_gene': 'ENSG00000272762', 'score': 550.77}, {'connected_gene': 'PARP3', 'score': 7.64}, {'connected_gene': 'NT5DC2', 'score': 5.33}, {'connected_gene': 'ACY1', 'score': 0.44}, {'connected_gene': 'ABHD14B', 'score': 0.44}]
chr3 GH03I052153 52153156 52155774 2.06 [{'connected_gene': 'POC1A', 'score': 550.77}, {'connected_gene': 'PBRM1', 'score': 14.13}, {'connected_gene': 'RRP9', 'score': 11.16}, {'connected_gene': 'DUSP7', 'score': 10.86}, {'connected_gene': 'ABHD14A-ACY1', 'score': 10.5}, {'connected_gene': 'ABHD14B', 'score': 10.5}, {'connected_gene': 'PCBP4', 'score': 10.49}, {'connected_gene': 'ACY1', 'score': 10.07}, {'connected_gene': 'WDR82', 'score': 9.96}, {'connected_gene': 'GPR62', 'score': 9.76}, {'connected_gene': 'LINC00696', 'score': 0.17}]
chr3 GH03I052044 52044628 52058616 2.78 [{'connected_gene': 'DUSP7', 'score': 561.07}, {'connected_gene': 'DCAF1', 'score': 24.9}, {'connected_gene': 'GPR62', 'score': 23.38}, {'connected_gene': 'RAD54L2', 'score': 19.36}, {'connected_gene': 'PHF7', 'score': 14.38}, {'connected_gene': 'NT5DC2', 'score': 13.65}, {'connected_gene': 'RPL29', 'score': 12.2}, {'connected_gene': 'PCBP4', 'score': 10.99}, {'connected_gene': 'WDR82', 'score': 10.3}, {'connected_gene': 'SFMBT1', 'score': 10.08}, {'connected_gene': 'NISCH', 'score': 9.77}, {'connected_gene': 'TWF2', 'score': 1.92}, {'connected_gene': 'ACY1', 'score': 1.61}, {'connected_gene': 'LOC105377089', 'score': 0.44}]
chr3 GH03I051977 51977525 51977674 0.2 [{'connected_gene': 'ABHD14A-ACY1', 'score': 0.77}, {'connected_gene': 'ABHD14B', 'score': 0.44}, {'connected_gene': 'ACY1', 'score': 0.44}, {'connected_gene': 'ABHD14A', 'score': 0.44}]