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
ENST00000232888	[[51967445, 51967615], [51967723, 51967797], [51968487, 51968567], [51968646, 51968792], [51969212, 51969275], [51969357, 51969492], [51969607, 51969708], [51970272, 51970365], [51970446, 51970571], [51971207, 51971334], [51971560, 51971602], [51971684, 51971752], [51972110, 51972220], [51975424, 51975507], [51975796, 51975957]]	[[51967521, 51967615], [51967723, 51967797], [51968487, 51968567], [51968646, 51968792], [51969212, 51969275], [51969357, 51969492], [51969607, 51969708], [51970272, 51970365], [51970446, 51970571], [51971207, 51971334], [51971560, 51971602], [51971684, 51971752], [51972110, 51972220], [51975424, 51975507], [51975796, 51975883]]
NM_004704	[[51967441, 51967615], [51967723, 51967797], [51968487, 51968567], [51968646, 51968792], [51969212, 51969275], [51969357, 51969492], [51969607, 51969708], [51970272, 51970365], [51970446, 51970571], [51971207, 51971334], [51971560, 51971602], [51971684, 51971752], [51972110, 51972220], [51975424, 51975507], [51975796, 51975957]]	[[51967521, 51967615], [51967723, 51967797], [51968487, 51968567], [51968646, 51968792], [51969212, 51969275], [51969357, 51969492], [51969607, 51969708], [51970272, 51970365], [51970446, 51970571], [51971207, 51971334], [51971560, 51971602], [51971684, 51971752], [51972110, 51972220], [51975424, 51975507], [51975796, 51975883]]

Promoter

Chrom	Start	End	Description
chr3	51975889	51975936	CAGE_peak_1_at_RRP9_5end
chr3	51975942	51975962	CAGE_peak_2_at_RRP9_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr3	GH03I051383	51383446	51392956	2.28	[{'connected_gene': 'MANF', 'score': 550.77}, {'connected_gene': 'RBM15B', 'score': 550.77}, {'connected_gene': 'PIR60056', 'score': 550.77}, {'connected_gene': 'DCAF1', 'score': 39.36}, {'connected_gene': 'RRP9', 'score': 17.48}, {'connected_gene': 'RAD54L2', 'score': 13.43}, {'connected_gene': 'TEX264', 'score': 9.71}, {'connected_gene': 'GRM2', 'score': 5.92}, {'connected_gene': 'CACNA2D2', 'score': 5.51}, {'connected_gene': 'GPR62', 'score': 4.66}, {'connected_gene': 'PCBP4', 'score': 4.5}, {'connected_gene': 'PIR52841', 'score': 0.77}, {'connected_gene': 'GC03P051392', 'score': 0.77}, {'connected_gene': 'PIR58843', 'score': 0.77}, {'connected_gene': 'PIR33911', 'score': 0.77}, {'connected_gene': 'DOCK3', 'score': 0.03}]
chr3	GH03I052769	52769836	52771938	2.02	[{'connected_gene': 'NEK4', 'score': 550.77}, {'connected_gene': 'PBRM1', 'score': 60.08}, {'connected_gene': 'RRP9', 'score': 21.46}, {'connected_gene': 'RFT1', 'score': 13.2}, {'connected_gene': 'ITIH3', 'score': 12.78}, {'connected_gene': 'ITIH4-AS1', 'score': 11.29}, {'connected_gene': 'ITIH4', 'score': 11.27}, {'connected_gene': 'ENSG00000243696', 'score': 11.27}, {'connected_gene': 'SNORD69', 'score': 10.51}, {'connected_gene': 'GNL3', 'score': 10.5}, {'connected_gene': 'MUSTN1', 'score': 10.49}, {'connected_gene': 'ENSG00000222345', 'score': 10.45}, {'connected_gene': 'SNORD19B', 'score': 10.44}, {'connected_gene': 'SNORD19', 'score': 10.44}, {'connected_gene': 'ENSG00000252787', 'score': 10.44}, {'connected_gene': 'TMEM110-MUSTN1', 'score': 10.41}, {'connected_gene': 'STIMATE', 'score': 10.41}, {'connected_gene': 'LOC101059924', '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	GH03I052003	52003928	52006599	1.15	[{'connected_gene': 'PBRM1', 'score': 13.33}, {'connected_gene': 'RRP9', 'score': 11.39}, {'connected_gene': 'GPR62', 'score': 4.7}, {'connected_gene': 'RPL29', 'score': 0.44}, {'connected_gene': 'GC03P052016', 'score': 0.39}]
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	GH03I052739	52739072	52740909	0.31	[{'connected_gene': 'PBRM1', 'score': 38.37}, {'connected_gene': 'GNL3', 'score': 21.8}, {'connected_gene': 'ITIH4', 'score': 19.08}, {'connected_gene': 'RFT1', 'score': 12.13}, {'connected_gene': 'RRP9', 'score': 12.0}, {'connected_gene': 'GLT8D1', 'score': 11.83}, {'connected_gene': 'SNORD69', 'score': 11.15}, {'connected_gene': 'ITIH4-AS1', 'score': 11.0}, {'connected_gene': 'ENSG00000243696', 'score': 10.97}, {'connected_gene': 'MUSTN1', 'score': 10.66}, {'connected_gene': 'TMEM110-MUSTN1', 'score': 10.61}, {'connected_gene': 'STIMATE', 'score': 10.61}, {'connected_gene': 'NT5DC2', 'score': 10.01}, {'connected_gene': 'SMIM4', 'score': 10.01}, {'connected_gene': 'STAB1', 'score': 10.0}, {'connected_gene': 'LOC100499399', 'score': 0.77}, {'connected_gene': 'LOC101059924', 'score': 0.39}, {'connected_gene': 'NEK4', 'score': 0.29}]
chr3	GH03I051668	51668805	51672915	2.02	[{'connected_gene': 'TEX264', 'score': 570.41}, {'connected_gene': 'DCAF1', 'score': 25.81}, {'connected_gene': 'RRP9', 'score': 11.15}, {'connected_gene': 'RNU6ATAC29P', 'score': 11.06}, {'connected_gene': 'RBM15B', 'score': 10.07}, {'connected_gene': 'RAD54L2', 'score': 10.01}, {'connected_gene': 'DOCK3', 'score': 5.68}, {'connected_gene': 'GRM2', 'score': 5.04}, {'connected_gene': 'PIR41340', 'score': 0.77}, {'connected_gene': 'RNA5SP132', 'score': 0.34}]
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	GH03I052021	52021601	52023039	1.05	[{'connected_gene': 'RAD54L2', 'score': 17.48}, {'connected_gene': 'GLT8D1', 'score': 16.13}, {'connected_gene': 'NISCH', 'score': 11.72}, {'connected_gene': 'RRP9', 'score': 9.89}, {'connected_gene': 'PBRM1', 'score': 9.68}, {'connected_gene': 'GPR62', 'score': 6.23}, {'connected_gene': 'GC03P052016', 'score': 0.44}, {'connected_gene': 'LOC105377088', 'score': 0.39}]
chr3	GH03I051903	51903343	51903402	0.61	[{'connected_gene': 'IQCF1', 'score': 550.77}, {'connected_gene': 'IQCF5', 'score': 11.77}, {'connected_gene': 'IQCF5-AS1', 'score': 11.38}, {'connected_gene': 'RN7SL504P', 'score': 11.37}, {'connected_gene': 'IQCF3', 'score': 11.1}, {'connected_gene': 'IQCF4', 'score': 11.1}, {'connected_gene': 'GPR62', 'score': 10.83}, {'connected_gene': 'PCBP4', 'score': 10.79}, {'connected_gene': 'RRP9', 'score': 0.28}]
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	GH03I052298	52298201	52301103	1.34	[{'connected_gene': 'GLYCTK-AS1', 'score': 550.77}, {'connected_gene': 'PBRM1', 'score': 19.26}, {'connected_gene': 'GLYCTK', 'score': 18.49}, {'connected_gene': 'PPM1M', 'score': 16.5}, {'connected_gene': 'RFT1', 'score': 13.51}, {'connected_gene': 'RRP9', 'score': 13.07}, {'connected_gene': 'TWF2', 'score': 6.4}, {'connected_gene': 'DNAH1', 'score': 0.37}]
chr3	GH03I051940	51940694	51943929	2.05	[{'connected_gene': 'PARP3', 'score': 559.63}, {'connected_gene': 'RRP9', 'score': 550.77}, {'connected_gene': 'ABHD14A', 'score': 10.22}, {'connected_gene': 'RPL29', 'score': 7.02}, {'connected_gene': 'ENSG00000280422', 'score': 0.39}]
chr3	GH03I051498	51498462	51502314	2.26	[{'connected_gene': 'GC03M051486', 'score': 550.77}, {'connected_gene': 'DCAF1', 'score': 550.44}, {'connected_gene': 'RNU6ATAC29P', 'score': 11.79}, {'connected_gene': 'RRP9', 'score': 11.13}, {'connected_gene': 'HEMK1', 'score': 9.68}, {'connected_gene': 'DOCK3', 'score': 8.61}, {'connected_gene': 'GRM2', 'score': 4.73}]