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
ENST00000570101	[[58699012, 58701391], [58704016, 58704071], [58704948, 58705148], [58705999, 58706147], [58709843, 58709958], [58710192, 58710250], [58711229, 58711328], [58712236, 58712378], [58712599, 58712798], [58713760, 58714145], [58717858, 58718627]]	[[58701288, 58701391], [58704016, 58704071], [58704948, 58705148], [58705999, 58706147], [58709843, 58709958], [58710192, 58710250], [58711229, 58711328], [58712236, 58712378], [58712599, 58712798], [58713760, 58714030]]
ENST00000219320	[[58699012, 58701391], [58704016, 58704071], [58704948, 58705148], [58705999, 58706147], [58709843, 58709958], [58710192, 58710250], [58711229, 58711328], [58712236, 58712378], [58712599, 58712798], [58713760, 58714145], [58717858, 58718082], [58718620, 58719008]]	[[58701288, 58701391], [58704016, 58704071], [58704948, 58705148], [58705999, 58706147], [58709843, 58709958], [58710192, 58710250], [58711229, 58711328], [58712236, 58712378], [58712599, 58712798], [58713760, 58714030]]
ENST00000564100	[[58700275, 58701391], [58709843, 58709958], [58710192, 58710250], [58711229, 58711328], [58712236, 58712378], [58712599, 58712798], [58713760, 58714145], [58717858, 58718611]]	[[58701209, 58701391], [58709843, 58709958], [58710192, 58710250], [58711229, 58711328], [58712236, 58712378], [58712599, 58712798], [58713760, 58714030]]
ENST00000566598	[[58701181, 58701391], [58704016, 58704071], [58704948, 58705148], [58705999, 58706147], [58709843, 58709926], [58710192, 58710250], [58711229, 58711328], [58712236, 58712378], [58712599, 58712798], [58713760, 58714145], [58717858, 58718085]]	[[58709911, 58709926], [58710192, 58710250], [58711229, 58711328], [58712236, 58712378], [58712599, 58712798], [58713760, 58714030]]
ENST00000564010	[[58701265, 58701391], [58704016, 58704071], [58704948, 58705148], [58705999, 58706147], [58709843, 58709958], [58710192, 58710250], [58711229, 58711328], [58712236, 58712378], [58712599, 58712798], [58713760, 58713777], [58717858, 58718082], [58718620, 58718674]]	[[58701288, 58701391], [58704016, 58704071], [58704948, 58705148], [58705999, 58706147], [58709843, 58709958], [58710192, 58710250], [58711229, 58711328], [58712236, 58712378], [58712599, 58712798], [58713760, 58713763]]
ENST00000566953	[[58701286, 58701391], [58704016, 58704071], [58705999, 58706147], [58709843, 58710025], [58717858, 58718014]]	None
ENST00000562149	[[58705475, 58706147], [58709843, 58709958], [58710192, 58710250], [58711229, 58711328], [58712236, 58712378], [58712599, 58712798], [58713760, 58714145], [58717858, 58718082], [58718620, 58718647]]	None
ENST00000569209	[[58705933, 58706147], [58709843, 58710250], [58711229, 58711481]]	None
ENST00000565785	[[58705999, 58706147], [58709116, 58709246], [58709843, 58709958], [58710192, 58710250], [58711229, 58711328], [58712236, 58712378], [58712599, 58712667]]	[[58709217, 58709246], [58709843, 58709958], [58710192, 58710250], [58711229, 58711328], [58712236, 58712378], [58712599, 58712667]]
ENST00000570214	[[58709847, 58709958], [58710192, 58710250], [58711229, 58711328], [58717858, 58718082], [58718620, 58718674]]	[[58709847, 58709958], [58710192, 58710250], [58711229, 58711255]]
ENST00000562397	[[58712646, 58712798], [58713760, 58714145], [58718620, 58718647]]	[[58712646, 58712798], [58713760, 58714030]]
ENST00000563196	[[58712784, 58712798], [58713760, 58714145], [58717858, 58717987], [58718620, 58718674]]	[[58712784, 58712798], [58713760, 58714030]]
ENST00000564391	[[58713513, 58714145], [58717858, 58717957]]	[[58713622, 58714030]]
ENST00000564720	[[58715291, 58715775], [58718039, 58718082], [58718620, 58718674]]	None
ENST00000567930	[[58715419, 58715612], [58717858, 58718227]]	None
ENST00000564964	[[58717569, 58718082], [58718620, 58718674]]	None
NM_001308384	[[58699012, 58701391], [58709843, 58709958], [58710192, 58710250], [58711229, 58711328], [58712236, 58712378], [58712599, 58712798], [58713760, 58714145], [58717858, 58718611]]	[[58701209, 58701391], [58709843, 58709958], [58710192, 58710250], [58711229, 58711328], [58712236, 58712378], [58712599, 58712798], [58713760, 58714030]]
NM_018231	[[58699012, 58701391], [58704016, 58704071], [58704948, 58705148], [58705999, 58706147], [58709843, 58709958], [58710192, 58710250], [58711229, 58711328], [58712236, 58712378], [58712599, 58712798], [58713760, 58714145], [58717858, 58718082], [58718620, 58718681]]	[[58701288, 58701391], [58704016, 58704071], [58704948, 58705148], [58705999, 58706147], [58709843, 58709958], [58710192, 58710250], [58711229, 58711328], [58712236, 58712378], [58712599, 58712798], [58713760, 58714030]]

Promoter

Chrom	Start	End	Description
chr16	58718220	58718239	CAGE_peak_5_at_SLC38A7_5end
chr16	58718617	58718634	CAGE_peak_2_at_SLC38A7_5end
chr16	58718638	58718689	CAGE_peak_1_at_SLC38A7_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr16	GH16I058633	58633730	58635357	0.83	[{'connected_gene': 'SETD6', 'score': 11.17}, {'connected_gene': 'CNOT1', 'score': 0.77}, {'connected_gene': 'SLC38A7', 'score': 0.23}]
chr16	GH16I058637	58637877	58638800	1.16	[{'connected_gene': 'SETD6', 'score': 7.12}, {'connected_gene': 'CNOT1', 'score': 0.44}, {'connected_gene': 'SLC38A7', 'score': 0.25}]
chr16	GH16I058683	58683687	58685386	1.99	[{'connected_gene': 'SLC38A7', 'score': 556.99}, {'connected_gene': 'CNOT1', 'score': 11.97}, {'connected_gene': 'SETD6', 'score': 11.8}, {'connected_gene': 'GOT2', 'score': 11.46}, {'connected_gene': 'ENSG00000245768', 'score': 10.93}, {'connected_gene': 'RNU6-1155P', 'score': 10.9}]
chr16	GH16I058661	58661200	58661601	0.96	[{'connected_gene': 'SLC38A7', 'score': 5.82}, {'connected_gene': 'CNOT1', 'score': 0.29}]
chr16	GH16I058205	58205377	58205526	0.38	[{'connected_gene': 'CFAP20', 'score': 10.34}, {'connected_gene': 'SLC38A7', 'score': 10.23}, {'connected_gene': 'PRSS54', 'score': 10.14}, {'connected_gene': 'RN7SL645P', 'score': 0.44}, {'connected_gene': 'CCDC113', 'score': 0.44}, {'connected_gene': 'ENSG00000260867', 'score': 0.44}, {'connected_gene': 'LOC105371293', 'score': 0.26}]
chr16	GH16I058656	58656191	58657552	0.2	[{'connected_gene': 'GOT2', 'score': 10.8}, {'connected_gene': 'GINS3', 'score': 9.81}, {'connected_gene': 'SLC38A7', 'score': 5.75}, {'connected_gene': 'CNOT1', 'score': 4.83}]
chr16	GH16I058649	58649620	58650289	0.31	[{'connected_gene': 'GOT2', 'score': 15.32}, {'connected_gene': 'GINS3', 'score': 9.81}, {'connected_gene': 'CNOT1', 'score': 0.34}, {'connected_gene': 'SLC38A7', 'score': 0.28}]
chr16	GH16I058652	58652837	58653026	0.8	[{'connected_gene': 'GOT2', 'score': 10.79}, {'connected_gene': 'GINS3', 'score': 9.81}, {'connected_gene': 'CNOT1', 'score': 0.34}, {'connected_gene': 'SLC38A7', 'score': 0.29}]
chr16	GH16I058654	58654351	58655766	0.68	[{'connected_gene': 'GOT2', 'score': 16.06}, {'connected_gene': 'GINS3', 'score': 9.81}, {'connected_gene': 'CNOT1', 'score': 0.31}, {'connected_gene': 'SLC38A7', 'score': 0.29}]
chr16	GH16I058755	58755570	58757146	1.01	[{'connected_gene': 'GOT2', 'score': 22.0}, {'connected_gene': 'SLC38A7', 'score': 7.33}, {'connected_gene': 'RNU6-1155P', 'score': 0.39}, {'connected_gene': 'RN7SL143P', 'score': 0.39}, {'connected_gene': 'GC16M058744', 'score': 0.39}, {'connected_gene': 'ENSG00000245768', 'score': 0.34}]
chr16	GH16I058645	58645561	58646427	0.31	[{'connected_gene': 'GOT2', 'score': 5.03}, {'connected_gene': 'CNOT1', 'score': 0.37}, {'connected_gene': 'SLC38A7', 'score': 0.28}]
chr16	GH16I058731	58731786	58735101	2.08	[{'connected_gene': 'GOT2', 'score': 572.58}, {'connected_gene': 'GC16M058732', 'score': 550.77}, {'connected_gene': 'ENSG00000245768', 'score': 550.77}, {'connected_gene': 'CNOT1', 'score': 16.13}, {'connected_gene': 'CSNK2A2', 'score': 12.03}, {'connected_gene': 'LOC101927556', 'score': 9.73}, {'connected_gene': 'SLC38A7', 'score': 4.42}]
chr16	GH16I058644	58644082	58645485	0.56	[{'connected_gene': 'CNOT1', 'score': 15.08}, {'connected_gene': 'SETD6', 'score': 9.76}, {'connected_gene': 'NDRG4', 'score': 4.59}, {'connected_gene': 'SLC38A7', 'score': 0.26}]
chr16	GH16I058366	58366201	58366658	1.31	[{'connected_gene': 'PIR48676', 'score': 550.77}, {'connected_gene': 'GINS3', 'score': 11.37}, {'connected_gene': 'PRSS54', 'score': 10.24}, {'connected_gene': 'SLC38A7', 'score': 3.15}, {'connected_gene': 'GC16M058378', 'score': 0.39}, {'connected_gene': 'RNU6-269P', 'score': 0.39}]