PsyMuKB

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
ENST00000494857	[[17354596, 17354746], [17359765, 17359811], [17400826, 17401224], [17401959, 17402115], [17406186, 17406352], [17407809, 17407943], [17409272, 17409495], [17412068, 17412208], [17415803, 17415906], [17417836, 17418042], [17419452, 17419619], [17421111, 17421220], [17422458, 17428082]]	[[17400848, 17401224], [17401959, 17402115], [17406186, 17406352], [17407809, 17407943], [17409272, 17409495], [17412068, 17412208], [17415803, 17415906], [17417836, 17418042], [17419452, 17419619], [17421111, 17421220], [17422458, 17422655]]
ENST00000522656	[[17354599, 17354746], [17400826, 17401224], [17401959, 17402115], [17406186, 17406352], [17407809, 17407943], [17409272, 17409495], [17412068, 17412208], [17415803, 17415906], [17417836, 17418042], [17419452, 17419619], [17421111, 17421220], [17422458, 17422783]]	[[17400848, 17401224], [17401959, 17402115], [17406186, 17406352], [17407809, 17407943], [17409272, 17409495], [17412068, 17412208], [17415803, 17415906], [17417836, 17418042], [17419452, 17419619], [17421111, 17421220], [17422458, 17422655]]
ENST00000470360	[[17354723, 17354746], [17359765, 17359811], [17396285, 17396431], [17400826, 17401224], [17401959, 17402115], [17406186, 17406352], [17407809, 17407943], [17409272, 17409495], [17412454, 17412591], [17415803, 17415906], [17417836, 17418042], [17419452, 17419619], [17421111, 17421220], [17422458, 17428082]]	[[17396333, 17396431], [17400826, 17401224], [17401959, 17402115], [17406186, 17406352], [17407809, 17407943], [17409272, 17409495], [17412454, 17412591], [17415803, 17415906], [17417836, 17418042], [17419452, 17419619], [17421111, 17421220], [17422458, 17422655]]
ENST00000004531	[[17396285, 17396431], [17400826, 17401224], [17401959, 17402115], [17406186, 17406352], [17407809, 17407943], [17409272, 17409495], [17412068, 17412208], [17415803, 17415906], [17417836, 17418042], [17419452, 17419619], [17421111, 17421220], [17422458, 17428070]]	[[17396333, 17396431], [17400826, 17401224], [17401959, 17402115], [17406186, 17406352], [17407809, 17407943], [17409272, 17409495], [17412068, 17412208], [17415803, 17415906], [17417836, 17418042], [17419452, 17419619], [17421111, 17421220], [17422458, 17422655]]
ENST00000398090	[[17396285, 17396431], [17400826, 17401224], [17401959, 17402115], [17406186, 17406352], [17407809, 17407943], [17409272, 17409495], [17412454, 17412591], [17415803, 17415906], [17417836, 17418042], [17419452, 17419619], [17421111, 17421220], [17422458, 17428070]]	[[17396333, 17396431], [17400826, 17401224], [17401959, 17402115], [17406186, 17406352], [17407809, 17407943], [17409272, 17409495], [17412454, 17412591], [17415803, 17415906], [17417836, 17418042], [17419452, 17419619], [17421111, 17421220], [17422458, 17422655]]
NM_001008539	[[17354596, 17354746], [17400826, 17401224], [17401959, 17402115], [17406186, 17406352], [17407809, 17407943], [17409272, 17409495], [17412068, 17412208], [17415803, 17415906], [17417836, 17418042], [17419452, 17419619], [17421111, 17421220], [17422458, 17428077]]	[[17400848, 17401224], [17401959, 17402115], [17406186, 17406352], [17407809, 17407943], [17409272, 17409495], [17412068, 17412208], [17415803, 17415906], [17417836, 17418042], [17419452, 17419619], [17421111, 17421220], [17422458, 17422655]]
NM_003046	[[17396285, 17396431], [17400826, 17401224], [17401959, 17402115], [17406186, 17406352], [17407809, 17407943], [17409272, 17409495], [17412454, 17412591], [17415803, 17415906], [17417836, 17418042], [17419452, 17419619], [17421111, 17421220], [17422458, 17428077]]	[[17396333, 17396431], [17400826, 17401224], [17401959, 17402115], [17406186, 17406352], [17407809, 17407943], [17409272, 17409495], [17412454, 17412591], [17415803, 17415906], [17417836, 17418042], [17419452, 17419619], [17421111, 17421220], [17422458, 17422655]]
NM_001164771	[[17396285, 17396431], [17400826, 17401224], [17401959, 17402115], [17406186, 17406352], [17407809, 17407943], [17409272, 17409495], [17412068, 17412208], [17415803, 17415906], [17417836, 17418042], [17419452, 17419619], [17421111, 17421220], [17422458, 17428077]]	[[17396333, 17396431], [17400826, 17401224], [17401959, 17402115], [17406186, 17406352], [17407809, 17407943], [17409272, 17409495], [17412068, 17412208], [17415803, 17415906], [17417836, 17418042], [17419452, 17419619], [17421111, 17421220], [17422458, 17422655]]

Promoter

Chrom	Start	End	Description
chr8	17354587	17354610	CAGE_peak_1_at_SLC7A2_5end
chr8	17354617	17354638	CAGE_peak_2_at_SLC7A2_5end
chr8	17409352	17409375	CAGE_peak_5_at_SLC7A2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr8	GH08I017335	17334551	17339595	1.33	[{'connected_gene': 'MTMR7', 'score': 5.89}, {'connected_gene': 'SLC7A2', 'score': 3.07}, {'connected_gene': 'LOC102724838', 'score': 0.44}, {'connected_gene': 'GC08M017304', 'score': 0.31}, {'connected_gene': 'CNOT7', 'score': 0.16}]
chr8	GH08I017412	17412601	17414107	1.54	[{'connected_gene': 'MTMR7', 'score': 557.26}, {'connected_gene': 'SLC7A2', 'score': 4.91}, {'connected_gene': 'GC08M017304', 'score': 0.25}]
chr8	GH08I017449	17449888	17451875	0.31	[{'connected_gene': 'SLC7A2', 'score': 11.56}, {'connected_gene': 'ADAM24P', 'score': 0.37}, {'connected_gene': 'MTMR7', 'score': 0.28}, {'connected_gene': 'GC08M017429', 'score': 0.23}]
chr8	GH08I017487	17487031	17490125	0.87	[{'connected_gene': 'SLC7A2', 'score': 0.44}, {'connected_gene': 'GC08M017429', 'score': 0.39}, {'connected_gene': 'ADAM24P', 'score': 0.37}]
chr8	GH08I017493	17493012	17493861	0.69	[{'connected_gene': 'SLC7A2', 'score': 0.77}, {'connected_gene': 'GC08M017429', 'score': 0.44}, {'connected_gene': 'ADAM24P', 'score': 0.34}]
chr8	GH08I017532	17532216	17532626	0.31	[{'connected_gene': 'SLC7A2', 'score': 11.96}, {'connected_gene': 'PDGFRL', 'score': 5.58}, {'connected_gene': 'ENSG00000279932', 'score': 0.34}, {'connected_gene': 'GC08P017569', 'score': 0.28}]
chr8	GH08I017525	17525460	17526551	1	[{'connected_gene': 'SLC7A2', 'score': 14.84}, {'connected_gene': 'PDGFRL', 'score': 4.81}, {'connected_gene': 'ENSG00000279932', 'score': 0.37}, {'connected_gene': 'GC08P017569', 'score': 0.26}]
chr8	GH08I017538	17538754	17541542	1.61	[{'connected_gene': 'SLC7A2', 'score': 550.26}, {'connected_gene': 'PDGFRL', 'score': 17.06}, {'connected_gene': 'ENSG00000279932', 'score': 0.31}, {'connected_gene': 'GC08P017569', 'score': 0.31}]
chr8	GH08I017494	17494744	17499620	2.25	[{'connected_gene': 'SLC7A2', 'score': 550.77}, {'connected_gene': 'ENSG00000280453', 'score': 550.77}, {'connected_gene': 'LOC100133073', 'score': 60.53}, {'connected_gene': 'ENSG00000249258', 'score': 46.4}, {'connected_gene': 'CNOT7', 'score': 42.32}, {'connected_gene': 'MICU3', 'score': 13.59}, {'connected_gene': 'MTUS1', 'score': 12.02}, {'connected_gene': 'ENSG00000253671', 'score': 11.61}, {'connected_gene': 'ENSG00000253944', 'score': 10.35}, {'connected_gene': 'NAT2', 'score': 5.2}, {'connected_gene': 'ENSG00000279271', 'score': 0.77}, {'connected_gene': 'GC08M017429', 'score': 0.44}]
chr8	GH08I017547	17545952	17546101	0.4	[{'connected_gene': 'SLC7A2', 'score': 11.24}, {'connected_gene': 'GC08P017569', 'score': 0.34}, {'connected_gene': 'ENSG00000279932', 'score': 0.28}]
chr8	GH08I017545	17545077	17545504	0.31	[{'connected_gene': 'SLC7A2', 'score': 11.24}, {'connected_gene': 'GC08P017569', 'score': 0.34}, {'connected_gene': 'ENSG00000279932', 'score': 0.29}]
chr8	GH08I017517	17517771	17518988	0.8	[{'connected_gene': 'SLC7A2', 'score': 22.31}, {'connected_gene': 'ENSG00000279932', 'score': 0.44}, {'connected_gene': 'GC08P017569', 'score': 0.23}]
chr8	GH08I017527	17527540	17528806	0.99	[{'connected_gene': 'SLC7A2', 'score': 25.16}, {'connected_gene': 'ENSG00000279932', 'score': 0.37}, {'connected_gene': 'GC08P017569', 'score': 0.26}]
chr8	GH08I017521	17521344	17522261	0.6	[{'connected_gene': 'SLC7A2', 'score': 20.83}, {'connected_gene': 'ENSG00000279932', 'score': 0.39}, {'connected_gene': 'GC08P017569', 'score': 0.25}]
chr8	GH08I017524	17524552	17525279	0.49	[{'connected_gene': 'SLC7A2', 'score': 14.7}, {'connected_gene': 'ENSG00000279932', 'score': 0.39}, {'connected_gene': 'GC08P017569', 'score': 0.26}]
chr8	GH08I017546	17546172	17546321	0.4	[{'connected_gene': 'SLC7A2', 'score': 11.24}, {'connected_gene': 'GC08P017569', 'score': 0.34}, {'connected_gene': 'ENSG00000279932', 'score': 0.28}]
chr8	GH08I017520	17520144	17520707	0.2	[{'connected_gene': 'SLC7A2', 'score': 11.64}, {'connected_gene': 'ENSG00000279932', 'score': 0.44}, {'connected_gene': 'GC08P017569', 'score': 0.25}]
chr8	GH08I017921	17921370	17929474	2.51	[{'connected_gene': 'PCM1', 'score': 567.72}, {'connected_gene': 'ENSG00000253671', 'score': 21.38}, {'connected_gene': 'MTUS1', 'score': 13.98}, {'connected_gene': 'ASAH1', 'score': 9.85}, {'connected_gene': 'FGL1', 'score': 8.85}, {'connected_gene': 'SLC7A2', 'score': 4.57}, {'connected_gene': 'GC08P017880', 'score': 0.26}, {'connected_gene': 'LOC101929066', 'score': 0.1}]
chr8	GH08I017501	17501732	17501881	0.51	[{'connected_gene': 'ENSG00000279903', 'score': 550.77}, {'connected_gene': 'GC08M017429', 'score': 550.77}, {'connected_gene': 'MTMR7', 'score': 10.7}, {'connected_gene': 'SLC7A2', 'score': 0.77}]
chr8	GH08I017504	17504676	17505634	1.01	[{'connected_gene': 'GC08M017429', 'score': 550.77}, {'connected_gene': 'SLC7A2', 'score': 550.44}, {'connected_gene': 'ENSG00000279932', 'score': 0.44}]
chr8	GH08I017506	17506409	17507101	0.92	[{'connected_gene': 'ENSG00000279932', 'score': 0.77}, {'connected_gene': 'GC08M017429', 'score': 0.77}, {'connected_gene': 'SLC7A2', 'score': 0.44}]
chr8	GH08I017516	17516381	17517261	0.31	[{'connected_gene': 'ENSG00000279932', 'score': 0.44}, {'connected_gene': 'SLC7A2', 'score': 0.37}, {'connected_gene': 'GC08P017569', 'score': 0.23}]
chr8	GH08I017515	17515254	17515957	0.6	[{'connected_gene': 'ENSG00000279932', 'score': 0.77}, {'connected_gene': 'SLC7A2', 'score': 0.37}, {'connected_gene': 'GC08P017569', 'score': 0.23}]
chr8	GH08I017511	17511889	17512663	0.2	[{'connected_gene': 'ENSG00000279932', 'score': 550.77}, {'connected_gene': 'SLC7A2', 'score': 5.43}, {'connected_gene': 'GC08P017569', 'score': 0.22}]
chr8	GH08I017536	17536821	17538321	0.66	[{'connected_gene': 'ENSG00000279932', 'score': 0.31}, {'connected_gene': 'GC08P017569', 'score': 0.29}, {'connected_gene': 'SLC7A2', 'score': 0.26}]
chr8	GH08I017512	17512994	17513385	0.2	[{'connected_gene': 'ENSG00000279932', 'score': 0.77}, {'connected_gene': 'SLC7A2', 'score': 0.37}, {'connected_gene': 'GC08P017569', 'score': 0.22}]