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
ENST00000538629 [[77656338, 77656552], [77684660, 77684738], [77711343, 77711442], [77712364, 77712473], [77714598, 77714727], [77717624, 77717784], [77745756, 77745857], [77755066, 77755185], [77771326, 77776562]] [[77656495, 77656552], [77684660, 77684738], [77711343, 77711442], [77712364, 77712473], [77714598, 77714727], [77717624, 77717784], [77745756, 77745857], [77755066, 77755185], [77771326, 77771491]]
ENST00000339292 [[77656406, 77656552], [77684660, 77684738], [77711343, 77711442], [77712364, 77712473], [77714598, 77714727], [77717624, 77717784], [77745756, 77745857], [77755067, 77755185], [77771326, 77774894]] None
ENST00000509998 [[77656434, 77656552], [77684660, 77684738], [77711343, 77711442], [77712364, 77712473], [77714598, 77714727], [77745756, 77745857], [77755067, 77755185], [77771326, 77771849]] None
ENST00000508822 [[77656434, 77656552], [77711343, 77711442], [77712364, 77712473], [77714598, 77714727], [77717624, 77717784], [77745756, 77745857], [77755067, 77755185], [77771326, 77771849]] None
ENST00000320280 [[77712426, 77712473], [77714598, 77714727], [77717624, 77717784], [77755067, 77755185], [77771326, 77774638]] None
ENST00000511551 [[77656451, 77656552], [77666443, 77666629], [77684660, 77684738], [77711343, 77711442], [77712364, 77712459]] None
ENST00000510030 [[77656628, 77656880], [77684660, 77684738], [77711343, 77711442], [77712364, 77712412]] None
ENST00000506858 [[77753615, 77753774], [77755067, 77755185], [77771326, 77772652]] None
NM_001290229 [[77656326, 77656552], [77711343, 77711442], [77712364, 77712473], [77714598, 77714727], [77717624, 77717784], [77745756, 77745852], [77745854, 77745857], [77755067, 77755185], [77771326, 77776562]] [[77656495, 77656552], [77711343, 77711442], [77712364, 77712473], [77714598, 77714727], [77717624, 77717784], [77745756, 77745852], [77745854, 77745857], [77755067, 77755185], [77771326, 77771491]]
NR_110885 [[77656326, 77656552], [77684660, 77684738], [77711343, 77711442], [77712364, 77712473], [77714598, 77714727], [77745756, 77745857], [77755067, 77755185], [77771326, 77776562]] None
NM_004866 [[77656326, 77656552], [77684660, 77684738], [77711343, 77711442], [77712364, 77712473], [77714598, 77714727], [77717624, 77717784], [77745756, 77745852], [77745854, 77745857], [77755067, 77755185], [77771326, 77776562]] [[77656495, 77656552], [77684660, 77684738], [77711343, 77711442], [77712364, 77712473], [77714598, 77714727], [77717624, 77717784], [77745756, 77745852], [77745854, 77745857], [77755067, 77755185], [77771326, 77771491]]
Promoter
Chrom Start End Description
chr5 77655924 77655948 CAGE_peak_7_at_SCAMP1_5end
chr5 77655955 77655973 CAGE_peak_9_at_SCAMP1_5end
chr5 77656342 77656362 CAGE_peak_2_at_SCAMP1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I078539 78539601 78542443 1.18 [{'connected_gene': 'SCAMP1', 'score': 5.26}, {'connected_gene': 'AP3B1', 'score': 2.65}, {'connected_gene': 'ARSB', 'score': 1.71}, {'connected_gene': 'PIR51536', 'score': 0.29}, {'connected_gene': 'GC05M078588', 'score': 0.25}, {'connected_gene': 'LHFPL2', 'score': 0.07}]
chr5 GH05I078359 78359054 78362338 2.07 [{'connected_gene': 'SCAMP1', 'score': 573.06}, {'connected_gene': 'SCAMP1-AS1', 'score': 560.0}, {'connected_gene': 'PIR62844', 'score': 550.77}, {'connected_gene': 'JMY', 'score': 14.1}, {'connected_gene': 'RPL7P23', 'score': 13.39}, {'connected_gene': 'RPS3AP20', 'score': 11.99}, {'connected_gene': 'DMGDH', 'score': 4.67}, {'connected_gene': 'PIR51536', 'score': 0.11}]
chr5 GH05I078495 78495313 78499825 1.25 [{'connected_gene': 'SCAMP1', 'score': 6.93}, {'connected_gene': 'SCAMP1-AS1', 'score': 6.01}, {'connected_gene': 'PIR51536', 'score': 0.39}, {'connected_gene': 'LHFPL2', 'score': 0.06}]
chr5 GH05I078550 78550739 78551560 0.58 [{'connected_gene': 'SCAMP1', 'score': 6.0}, {'connected_gene': 'GC05M078588', 'score': 0.28}, {'connected_gene': 'PIR51536', 'score': 0.26}, {'connected_gene': 'LHFPL2', 'score': 0.08}]
chr5 GH05I078566 78566106 78570115 1.12 [{'connected_gene': 'SCAMP1', 'score': 6.74}, {'connected_gene': 'GC05M078588', 'score': 0.34}, {'connected_gene': 'PIR51536', 'score': 0.22}, {'connected_gene': 'LHFPL2', 'score': 0.08}]
chr5 GH05I078573 78573201 78575291 1.22 [{'connected_gene': 'SCAMP1', 'score': 5.86}, {'connected_gene': 'GC05M078588', 'score': 0.37}, {'connected_gene': 'PIR51536', 'score': 0.21}, {'connected_gene': 'LHFPL2', 'score': 0.08}]
chr5 GH05I078552 78552504 78556351 0.54 [{'connected_gene': 'SCAMP1', 'score': 5.77}, {'connected_gene': 'GC05M078588', 'score': 0.28}, {'connected_gene': 'PIR51536', 'score': 0.26}, {'connected_gene': 'LHFPL2', 'score': 0.08}]
chr5 GH05I078016 78016869 78017539 1.02 [{'connected_gene': 'SCAMP1', 'score': 16.98}, {'connected_gene': 'TRQ-TTG7-1', 'score': 0.44}, {'connected_gene': 'ENSG00000253572', 'score': 0.19}, {'connected_gene': 'AP3B1', 'score': 0.06}]
chr5 GH05I078482 78482991 78485814 1.62 [{'connected_gene': 'SCAMP1-AS1', 'score': 8.33}, {'connected_gene': 'SCAMP1', 'score': 8.03}, {'connected_gene': 'AP3B1', 'score': 2.94}, {'connected_gene': 'PIR51536', 'score': 0.31}, {'connected_gene': 'LHFPL2', 'score': 0.06}]
chr5 GH05I078489 78489874 78490797 0.43 [{'connected_gene': 'SCAMP1-AS1', 'score': 8.27}, {'connected_gene': 'SCAMP1', 'score': 6.83}, {'connected_gene': 'PIR51536', 'score': 0.37}, {'connected_gene': 'LHFPL2', 'score': 0.06}]
chr5 GH05I078604 78604177 78607531 0.72 [{'connected_gene': 'SCAMP1-AS1', 'score': 4.59}, {'connected_gene': 'SCAMP1', 'score': 4.47}, {'connected_gene': 'GC05M078588', 'score': 0.37}, {'connected_gene': 'GC05M078630', 'score': 0.29}, {'connected_gene': 'LHFPL2', 'score': 0.1}]
chr5 GH05I078517 78517801 78520523 1.61 [{'connected_gene': 'SCAMP1-AS1', 'score': 6.9}, {'connected_gene': 'LHFPL2', 'score': 6.34}, {'connected_gene': 'SCAMP1', 'score': 4.89}, {'connected_gene': 'AP3B1', 'score': 2.07}, {'connected_gene': 'ARSB', 'score': 1.62}, {'connected_gene': 'PIR51536', 'score': 0.44}, {'connected_gene': 'GC05M078588', 'score': 0.19}]
chr5 GH05I077645 77645011 77645571 1.56 [{'connected_gene': 'RPL7P23', 'score': 27.18}, {'connected_gene': 'SCAMP1', 'score': 16.95}, {'connected_gene': 'WDR41', 'score': 11.88}, {'connected_gene': 'AP3B1', 'score': 11.69}, {'connected_gene': 'AGGF1', 'score': 10.02}, {'connected_gene': 'OTP', 'score': 0.44}, {'connected_gene': 'GC05M077675', 'score': 0.29}]
chr5 GH05I078533 78533402 78535680 1.43 [{'connected_gene': 'LHFPL2', 'score': 9.9}, {'connected_gene': 'SCAMP1', 'score': 5.62}, {'connected_gene': 'SCAMP1-AS1', 'score': 4.71}, {'connected_gene': 'AP3B1', 'score': 2.57}, {'connected_gene': 'ARSB', 'score': 1.27}, {'connected_gene': 'PIR51536', 'score': 0.34}, {'connected_gene': 'GC05M078588', 'score': 0.22}]
chr5 GH05I078487 78487619 78488927 0.2 [{'connected_gene': 'LHFPL2', 'score': 8.92}, {'connected_gene': 'SCAMP1', 'score': 7.96}, {'connected_gene': 'SCAMP1-AS1', 'score': 5.54}, {'connected_gene': 'PIR51536', 'score': 0.34}]
chr5 GH05I078590 78590528 78599283 1.69 [{'connected_gene': 'LHFPL2', 'score': 13.72}, {'connected_gene': 'SCAMP1', 'score': 4.72}, {'connected_gene': 'GC05M078588', 'score': 0.44}, {'connected_gene': 'GC05M078630', 'score': 0.26}]
chr5 GH05I078543 78543434 78549860 1.62 [{'connected_gene': 'LHFPL2', 'score': 13.22}, {'connected_gene': 'SCAMP1', 'score': 5.8}, {'connected_gene': 'PIR51536', 'score': 0.28}, {'connected_gene': 'GC05M078588', 'score': 0.26}]
chr5 GH05I078585 78585479 78588931 1.56 [{'connected_gene': 'LHFPL2', 'score': 13.39}, {'connected_gene': 'SCAMP1', 'score': 5.69}, {'connected_gene': 'GC05M078588', 'score': 0.77}, {'connected_gene': 'PIR51536', 'score': 0.18}]
chr5 GH05I078532 78532679 78533369 0.46 [{'connected_gene': 'LHFPL2', 'score': 9.9}, {'connected_gene': 'SCAMP1', 'score': 5.43}, {'connected_gene': 'PIR51536', 'score': 0.34}, {'connected_gene': 'GC05M078588', 'score': 0.22}]
chr5 GH05I078599 78599656 78602885 1.16 [{'connected_gene': 'LHFPL2', 'score': 11.05}, {'connected_gene': 'SCAMP1', 'score': 4.84}, {'connected_gene': 'GC05M078588', 'score': 0.39}, {'connected_gene': 'GC05M078630', 'score': 0.28}]
chr5 GH05I078609 78609851 78612032 1.04 [{'connected_gene': 'LHFPL2', 'score': 9.77}, {'connected_gene': 'SCAMP1', 'score': 4.41}, {'connected_gene': 'GC05M078588', 'score': 0.34}, {'connected_gene': 'GC05M078630', 'score': 0.31}]
chr5 GH05I078522 78522419 78531399 1.72 [{'connected_gene': 'LHFPL2', 'score': 10.0}, {'connected_gene': 'SCAMP1-AS1', 'score': 5.74}, {'connected_gene': 'SCAMP1', 'score': 5.47}, {'connected_gene': 'AP3B1', 'score': 2.88}, {'connected_gene': 'ARSB', 'score': 1.68}, {'connected_gene': 'PIR51536', 'score': 0.37}, {'connected_gene': 'GC05M078588', 'score': 0.21}]
chr5 GH05I078491 78491237 78494291 0.38 [{'connected_gene': 'LHFPL2', 'score': 8.76}, {'connected_gene': 'SCAMP1-AS1', 'score': 8.34}, {'connected_gene': 'SCAMP1', 'score': 6.74}, {'connected_gene': 'PIR51536', 'score': 0.37}]
chr5 GH05I078406 78406437 78406586 0.43 [{'connected_gene': 'LHFPL2', 'score': 9.91}, {'connected_gene': 'SCAMP1-AS1', 'score': 6.2}, {'connected_gene': 'SCAMP1', 'score': 0.25}, {'connected_gene': 'PIR51536', 'score': 0.15}]
chr5 GH05I078500 78500589 78502872 0.89 [{'connected_gene': 'LHFPL2', 'score': 9.13}, {'connected_gene': 'SCAMP1-AS1', 'score': 8.34}, {'connected_gene': 'SCAMP1', 'score': 6.52}, {'connected_gene': 'PIR51536', 'score': 0.44}]
chr5 GH05I078503 78503802 78512253 1.7 [{'connected_gene': 'PIR51536', 'score': 550.77}, {'connected_gene': 'TBCA', 'score': 10.5}, {'connected_gene': 'LHFPL2', 'score': 9.34}, {'connected_gene': 'SCAMP1-AS1', 'score': 8.71}, {'connected_gene': 'SCAMP1', 'score': 7.18}, {'connected_gene': 'ARSB', 'score': 2.98}, {'connected_gene': 'AP3B1', 'score': 2.85}]