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
ENST00000483233	[[52002525, 52003621], [52003958, 52004200], [52005475, 52005714], [52007980, 52008250], [52017216, 52017425]]	[[52003441, 52003621], [52003958, 52004200], [52005475, 52005686]]
ENST00000315877	[[52002526, 52003621], [52003958, 52004139], [52004621, 52004650], [52004777, 52004803], [52005475, 52005714], [52007980, 52008646]]	[[52003441, 52003621], [52003958, 52004139], [52004621, 52004650], [52004777, 52004803], [52005475, 52005686]]
ENST00000487005	[[52002531, 52003621], [52003958, 52004200], [52007980, 52008646]]	None
ENST00000395008	[[52002545, 52003621], [52003958, 52004200], [52005475, 52005908], [52007980, 52008047]]	[[52003441, 52003621], [52003958, 52004200], [52005475, 52005686]]
ENST00000361143	[[52002568, 52003621], [52003958, 52004200], [52005475, 52005714], [52007980, 52008082]]	[[52003441, 52003621], [52003958, 52004200], [52005475, 52005686]]
ENST00000461108	[[52003099, 52004200], [52005475, 52005714], [52007980, 52008037]]	[[52003844, 52004200], [52005475, 52005686]]
ENST00000525795	[[52003288, 52003621], [52003958, 52004200], [52005475, 52005714], [52005827, 52005908], [52007980, 52008065]]	[[52003441, 52003621], [52003958, 52004200], [52005475, 52005686]]
ENST00000473912	[[52005352, 52005714], [52007980, 52008095]]	None
NM_032750	[[52002525, 52003621], [52003958, 52004200], [52005475, 52005908], [52007980, 52008646]]	[[52003441, 52003621], [52003958, 52004200], [52005475, 52005686]]
NM_001146314	[[52002525, 52003621], [52003958, 52004200], [52005475, 52005714], [52007980, 52008646]]	[[52003441, 52003621], [52003958, 52004200], [52005475, 52005686]]
NM_001254753	[[52002525, 52003621], [52003958, 52004200], [52007980, 52008646]]	[[52003441, 52003621], [52003958, 52004200], [52007980, 52008077]]

Promoter

Chrom	Start	End	Description
chr3	52008016	52008071	CAGE_peak_1_at_ABHD14A-ACY1_5end,CAGE_peak_1_at_ABHD14B_5end,CAGE_peak_1_at_PCBP4_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	GH03I052466	52466663	52469698	0.99	[{'connected_gene': 'NT5DC2', 'score': 22.13}, {'connected_gene': 'SEMA3G', 'score': 12.23}, {'connected_gene': 'STAB1', 'score': 12.01}, {'connected_gene': 'SMIM4', 'score': 11.57}, {'connected_gene': 'RNU6-856P', 'score': 11.31}, {'connected_gene': 'RNU6ATAC16P', 'score': 11.3}, {'connected_gene': 'PBRM1', 'score': 10.81}, {'connected_gene': 'GNL3', 'score': 10.8}, {'connected_gene': 'ENSG00000222345', 'score': 10.8}, {'connected_gene': 'SNORD69', 'score': 10.8}, {'connected_gene': 'SNORD19B', 'score': 10.8}, {'connected_gene': 'SNORD19', 'score': 10.8}, {'connected_gene': 'ENSG00000252787', 'score': 10.8}, {'connected_gene': 'PPM1M', 'score': 10.68}, {'connected_gene': 'WDR82', 'score': 9.74}, {'connected_gene': 'NISCH', 'score': 5.15}, {'connected_gene': 'ABHD14B', 'score': 1.67}, {'connected_gene': 'PIR37247', 'score': 0.37}]
chr3	GH03I051994	51994047	51996554	2.09	[{'connected_gene': 'RPL29', 'score': 550.77}, {'connected_gene': 'PBRM1', 'score': 37.11}, {'connected_gene': 'RRP9', 'score': 32.57}, {'connected_gene': 'RAD54L2', 'score': 21.59}, {'connected_gene': 'ABHD14B', 'score': 13.81}, {'connected_gene': 'NISCH', 'score': 11.12}, {'connected_gene': 'GNL3', 'score': 9.69}, {'connected_gene': 'PARP3', 'score': 6.4}, {'connected_gene': 'NT5DC2', 'score': 6.05}]
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	GH03I051966	51966064	51969836	2.02	[{'connected_gene': 'PCBP4', 'score': 550.44}, {'connected_gene': 'PARP3', 'score': 8.19}, {'connected_gene': 'GC03P051963', 'score': 0.77}, {'connected_gene': 'ABHD14A', 'score': 0.77}, {'connected_gene': 'ENSG00000272762', 'score': 0.44}, {'connected_gene': 'ABHD14B', 'score': 0.37}]
chr3	GH03I052683	52683797	52688844	2.26	[{'connected_gene': 'PBRM1', 'score': 605.04}, {'connected_gene': 'GNL3', 'score': 563.03}, {'connected_gene': 'RRP9', 'score': 21.56}, {'connected_gene': 'RFT1', 'score': 12.41}, {'connected_gene': 'ABHD14B', 'score': 10.37}, {'connected_gene': 'ITIH1', 'score': 5.37}, {'connected_gene': 'ENSG00000280904', 'score': 0.77}]
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	GH03I052108	52108038	52110936	1.21	[{'connected_gene': 'DUSP7', 'score': 12.9}, {'connected_gene': 'ABHD14B', 'score': 11.11}, {'connected_gene': 'PCBP4', 'score': 11.1}, {'connected_gene': 'ABHD14A', 'score': 11.1}, {'connected_gene': 'ABHD14A-ACY1', 'score': 11.1}, {'connected_gene': 'GPR62', 'score': 10.44}, {'connected_gene': 'WDR82', 'score': 9.64}, {'connected_gene': 'GLYCTK', 'score': 9.64}, {'connected_gene': 'MIR135A1', 'score': 9.63}, {'connected_gene': 'GLYCTK-AS1', 'score': 9.63}, {'connected_gene': 'POC1A', 'score': 5.0}, {'connected_gene': 'LINC00696', 'score': 0.26}]
chr3	GH03I052075	52075870	52078430	0.89	[{'connected_gene': 'GPR62', 'score': 4.56}, {'connected_gene': 'ABHD14B', 'score': 4.34}, {'connected_gene': 'LINC00696', 'score': 0.39}, {'connected_gene': 'POC1A', 'score': 0.18}]
chr3	GH03I052086	52086485	52092641	1.42	[{'connected_gene': 'GPR62', 'score': 14.5}, {'connected_gene': 'DUSP7', 'score': 13.02}, {'connected_gene': 'PCBP4', 'score': 10.18}, {'connected_gene': 'ABHD14B', 'score': 4.31}, {'connected_gene': 'PPM1M', 'score': 1.66}, {'connected_gene': 'GLYCTK', 'score': 1.38}, {'connected_gene': 'LINC00696', 'score': 0.34}, {'connected_gene': 'POC1A', 'score': 0.2}]
chr3	GH03I051990	51990845	51993878	0.77	[{'connected_gene': 'GPR62', 'score': 11.32}, {'connected_gene': 'DUSP7', 'score': 10.96}, {'connected_gene': 'RAD54L2', 'score': 10.55}, {'connected_gene': 'PARP3', 'score': 6.67}, {'connected_gene': 'RPL29', 'score': 6.33}, {'connected_gene': 'ABHD14B', 'score': 4.36}, {'connected_gene': 'RBM15B', 'score': 3.57}]
chr3	GH03I052236	52236187	52241390	2.51	[{'connected_gene': 'LOC101929054', 'score': 567.28}, {'connected_gene': 'TWF2', 'score': 552.75}, {'connected_gene': 'GLYCTK', 'score': 30.07}, {'connected_gene': 'RAD54L2', 'score': 26.53}, {'connected_gene': 'PBRM1', 'score': 25.12}, {'connected_gene': 'RRP9', 'score': 20.38}, {'connected_gene': 'WDR82', 'score': 14.44}, {'connected_gene': 'RFT1', 'score': 12.39}, {'connected_gene': 'MIR135A1', 'score': 11.4}, {'connected_gene': 'GLYCTK-AS1', 'score': 11.39}, {'connected_gene': 'ABHD14B', 'score': 10.42}, {'connected_gene': 'PPM1M', 'score': 2.27}, {'connected_gene': 'ENSG00000173366', '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}]
chr3	GH03I051794	51794265	51794474	0.2	[{'connected_gene': 'GC03P051793', 'score': 550.77}, {'connected_gene': 'IQCF3', 'score': 11.34}, {'connected_gene': 'IQCF4', 'score': 11.34}, {'connected_gene': 'IQCF5', 'score': 10.34}, {'connected_gene': 'ABHD14A-ACY1', 'score': 9.64}, {'connected_gene': 'ABHD14B', 'score': 9.63}, {'connected_gene': 'PCBP4', 'score': 9.44}, {'connected_gene': 'ABHD14A', 'score': 9.44}, {'connected_gene': 'LOC105377087', 'score': 0.28}]