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
ENST00000189978	[[113431050, 113431263], [113444953, 113445080], [113449396, 113449548], [113457682, 113457810], [113459604, 113459746], [113496530, 113496655], [113509920, 113510080], [113530092, 113530363], [113538067, 113538243], [113538911, 113538935], [113547094, 113547296], [113547806, 113547998], [113549969, 113550118], [113562585, 113563278]]	[[113431184, 113431263], [113444953, 113445080], [113449396, 113449548], [113457682, 113457810], [113459604, 113459746], [113496530, 113496655], [113509920, 113510080], [113530092, 113530363], [113538067, 113538243], [113538911, 113538935], [113547094, 113547296], [113547806, 113547998], [113549969, 113550118], [113562585, 113563268]]
ENST00000374448	[[113431050, 113431263], [113444953, 113445080], [113449396, 113449548], [113457682, 113457810], [113459604, 113459746], [113496530, 113496655], [113509920, 113510080], [113524481, 113524488], [113530099, 113530363], [113538067, 113538243], [113538911, 113538935], [113547094, 113547296], [113547806, 113547998], [113549969, 113550118], [113562585, 113563278]]	[[113431184, 113431263], [113444953, 113445080], [113449396, 113449548], [113457682, 113457810], [113459604, 113459746], [113496530, 113496655], [113509920, 113510080], [113524481, 113524488], [113530099, 113530363], [113538067, 113538243], [113538911, 113538935], [113547094, 113547296], [113547806, 113547998], [113549969, 113550118], [113562585, 113563268]]
ENST00000416899	[[113431058, 113431263], [113444953, 113445080], [113449396, 113449548], [113457682, 113457810], [113459604, 113459746], [113496530, 113496655], [113509920, 113510080], [113530092, 113530363], [113538067, 113538243], [113547094, 113547296], [113547806, 113547998], [113549969, 113550118], [113562585, 113563859]]	[[113431184, 113431263], [113444953, 113445080], [113449396, 113449548], [113457682, 113457810], [113459604, 113459746], [113496530, 113496655], [113509920, 113510080], [113530092, 113530363], [113538067, 113538243], [113547094, 113547296], [113547806, 113547998], [113549969, 113550118], [113562585, 113563268]]
ENST00000374440	[[113431050, 113431263], [113444953, 113445080], [113449396, 113449548], [113457682, 113457810], [113459604, 113459746], [113468355, 113468432]]	[[113449544, 113449548], [113457682, 113457810], [113459604, 113459746], [113468355, 113468432]]
ENST00000374439	[[113449496, 113449548], [113457682, 113457810], [113459604, 113459746], [113468355, 113468468]]	[[113449544, 113449548], [113457682, 113457810], [113459604, 113459746], [113468355, 113468432]]
ENST00000374438	[[113537626, 113538243], [113547806, 113547998], [113549969, 113550381]]	[[113538109, 113538243], [113547806, 113547998], [113549969, 113550213]]
NM_001166281	[[113431050, 113431263], [113444953, 113445080], [113449396, 113449548], [113457682, 113457810], [113459604, 113459746], [113496530, 113496655], [113509920, 113510080], [113524481, 113524488], [113538067, 113538243], [113547094, 113547296], [113547806, 113547998], [113549969, 113550118], [113562585, 113563278]]	[[113431184, 113431263], [113444953, 113445080], [113449396, 113449548], [113457682, 113457810], [113459604, 113459746], [113496530, 113496655], [113509920, 113510080], [113524481, 113524488], [113538067, 113538243], [113547094, 113547296], [113547806, 113547998], [113549969, 113550118], [113562585, 113563268]]
NM_005592	[[113431050, 113431263], [113444953, 113445080], [113449396, 113449548], [113457682, 113457810], [113459604, 113459746], [113496530, 113496655], [113509920, 113510080], [113524481, 113524488], [113530099, 113530363], [113538067, 113538243], [113538911, 113538935], [113547094, 113547296], [113547806, 113547998], [113549969, 113550118], [113562585, 113563278]]	[[113431184, 113431263], [113444953, 113445080], [113449396, 113449548], [113457682, 113457810], [113459604, 113459746], [113496530, 113496655], [113509920, 113510080], [113524481, 113524488], [113530099, 113530363], [113538067, 113538243], [113538911, 113538935], [113547094, 113547296], [113547806, 113547998], [113549969, 113550118], [113562585, 113563268]]
NM_001166280	[[113431050, 113431263], [113444953, 113445080], [113449396, 113449548], [113457682, 113457810], [113459604, 113459746], [113490967, 113490997], [113496530, 113496655], [113509920, 113510080], [113524481, 113524488], [113538067, 113538243], [113547094, 113547296], [113547806, 113547998], [113549969, 113550118], [113562585, 113563278]]	[[113431184, 113431263], [113444953, 113445080], [113449396, 113449548], [113457682, 113457810], [113459604, 113459746], [113490967, 113490997], [113496530, 113496655], [113509920, 113510080], [113524481, 113524488], [113538067, 113538243], [113547094, 113547296], [113547806, 113547998], [113549969, 113550118], [113562585, 113563268]]

Promoter

Chrom	Start	End	Description
chr9	113430935	113430942	CAGE_peak_5_at_MUSK_5end
chr9	113431029	113431050	CAGE_peak_2_at_MUSK_5end
chr9	113431060	113431077	CAGE_peak_1_at_MUSK_5end
chr9	113431137	113431153	CAGE_peak_3_at_MUSK_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr9	GH09I110590	110590395	110592813	0.46	[{'connected_gene': 'MUSK', 'score': 6.2}, {'connected_gene': 'ENSG00000232896', 'score': 0.44}, {'connected_gene': 'SVEP1', 'score': 0.39}]
chr9	GH09I110571	110571145	110572717	0.31	[{'connected_gene': 'MUSK', 'score': 6.6}, {'connected_gene': 'GC09P110579', 'score': 0.44}, {'connected_gene': 'SVEP1', 'score': 0.44}, {'connected_gene': 'GC09M110541', 'score': 0.29}]
chr9	GH09I110647	110647061	110653135	1.03	[{'connected_gene': 'MUSK', 'score': 6.11}, {'connected_gene': 'LPAR1', 'score': 4.07}, {'connected_gene': 'LOC105376218', 'score': 0.29}]
chr9	GH09I110659	110659816	110660630	0.46	[{'connected_gene': 'MUSK', 'score': 4.94}, {'connected_gene': 'LOC105376218', 'score': 0.26}]
chr9	GH09I110603	110603779	110605070	0.63	[{'connected_gene': 'MUSK', 'score': 5.74}, {'connected_gene': 'ENSG00000232896', 'score': 0.77}, {'connected_gene': 'LOC105376218', 'score': 0.39}]
chr9	GH09I110602	110602381	110602530	0.46	[{'connected_gene': 'MUSK', 'score': 5.73}, {'connected_gene': 'ENSG00000232896', 'score': 0.77}, {'connected_gene': 'LOC105376218', 'score': 0.39}]
chr9	GH09I110655	110655213	110657030	0.2	[{'connected_gene': 'MUSK', 'score': 6.3}, {'connected_gene': 'LOC105376218', 'score': 0.28}]
chr9	GH09I110625	110625661	110627176	0.96	[{'connected_gene': 'MUSK', 'score': 6.01}, {'connected_gene': 'LOC105376218', 'score': 0.44}]
chr9	GH09I110827	110827900	110829596	0.31	[{'connected_gene': 'MUSK', 'score': 9.71}, {'connected_gene': 'GC09P110867', 'score': 0.28}, {'connected_gene': 'RPS21P5', 'score': 0.15}]
chr9	GH09I110797	110797266	110801629	0.84	[{'connected_gene': 'MUSK', 'score': 7.71}, {'connected_gene': 'GC09P110867', 'score': 0.2}, {'connected_gene': 'RPS21P5', 'score': 0.19}]
chr9	GH09I110668	110668116	110670509	0.88	[{'connected_gene': 'MUSK', 'score': 556.67}, {'connected_gene': 'RPS21P5', 'score': 0.22}]
chr9	GH09I110742	110742058	110746991	1.44	[{'connected_gene': 'MUSK', 'score': 5.57}, {'connected_gene': 'RPS21P5', 'score': 0.37}, {'connected_gene': 'GC09P110867', 'score': 0.13}]
chr9	GH09I110767	110767028	110768330	0.51	[{'connected_gene': 'PTGR1', 'score': 4.64}, {'connected_gene': 'RPS21P5', 'score': 0.26}, {'connected_gene': 'GC09P110867', 'score': 0.15}, {'connected_gene': 'MUSK', 'score': 0.15}]
chr9	GH09I110640	110640365	110642341	0.38	[{'connected_gene': 'LPAR1', 'score': 10.18}, {'connected_gene': 'MUSK', 'score': 6.96}, {'connected_gene': 'LOC105376218', 'score': 0.34}]
chr9	GH09I111103	111103429	111103734	0.2	[{'connected_gene': 'LPAR1', 'score': 17.42}, {'connected_gene': 'MUSK', 'score': 10.44}, {'connected_gene': 'RNY4P18', 'score': 0.44}, {'connected_gene': 'GC09M111098', 'score': 0.44}, {'connected_gene': 'MIR7702', 'score': 0.1}]
chr9	GH09I111104	111103241	111103390	0.2	[{'connected_gene': 'LPAR1', 'score': 11.11}, {'connected_gene': 'MUSK', 'score': 10.44}, {'connected_gene': 'RNY4P18', 'score': 0.44}, {'connected_gene': 'GC09M111098', 'score': 0.44}, {'connected_gene': 'MIR7702', 'score': 0.1}]
chr9	GH09I110935	110935501	110938197	0.63	[{'connected_gene': 'RNU6-432P', 'score': 11.41}, {'connected_gene': 'LPAR1', 'score': 10.51}, {'connected_gene': 'MUSK', 'score': 10.05}, {'connected_gene': 'ENSG00000207401', 'score': 0.77}]
chr9	GH09I110620	110620861	110620990	0.2	[{'connected_gene': 'LOC105376218', 'score': 0.77}, {'connected_gene': 'MUSK', 'score': 0.25}]
chr9	GH09I110728	110728167	110728267	0.52	[{'connected_gene': 'RPS21P5', 'score': 550.77}, {'connected_gene': 'MUSK', 'score': 0.22}, {'connected_gene': 'GC09P110867', 'score': 0.12}]
chr9	GH09I110791	110791401	110791600	0.2	[{'connected_gene': 'RPS21P5', 'score': 0.21}, {'connected_gene': 'GC09P110867', 'score': 0.18}, {'connected_gene': 'MUSK', 'score': 0.13}]
chr9	GH09I110751	110751525	110754307	1.33	[{'connected_gene': 'RPS21P5', 'score': 0.31}, {'connected_gene': 'MUSK', 'score': 0.18}, {'connected_gene': 'GC09P110867', 'score': 0.14}]
chr9	GH09I110747	110747861	110748863	0.57	[{'connected_gene': 'RPS21P5', 'score': 0.34}, {'connected_gene': 'MUSK', 'score': 0.18}, {'connected_gene': 'GC09P110867', 'score': 0.13}]
chr9	GH09I110578	110578185	110582681	1.78	[{'connected_gene': 'GC09P110579', 'score': 550.77}, {'connected_gene': 'SVEP1', 'score': 550.77}, {'connected_gene': 'MUSK', 'score': 5.69}, {'connected_gene': 'ENSG00000232896', 'score': 0.37}]
chr9	GH09I110802	110802302	110803400	0.76	[{'connected_gene': 'GC09P110867', 'score': 0.21}, {'connected_gene': 'RPS21P5', 'score': 0.18}, {'connected_gene': 'MUSK', 'score': 0.12}]