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
ENST00000266643	[[58148880, 58149668], [58150711, 58150867], [58151890, 58152083], [58152345, 58154190]]	[[58149311, 58149668], [58150711, 58150867], [58151890, 58152083], [58152345, 58152680]]
ENST00000552279	[[58149510, 58149668], [58150711, 58151383]]	None
ENST00000548358	[[58151269, 58152083], [58152345, 58153199]]	[[58151716, 58152083], [58152345, 58152680]]
NM_138396	[[58148880, 58149668], [58150711, 58150867], [58151890, 58152083], [58152345, 58154193]]	[[58149311, 58149668], [58150711, 58150867], [58151890, 58152083], [58152345, 58152680]]

Promoter

Chrom	Start	End	Description
chr12	58148693	58148735	CAGE_peak_2_at_MARCH9_5end
chr12	58148795	58148819	CAGE_peak_3_at_MARCH9_5end
chr12	58148842	58148929	CAGE_peak_1_at_MARCH9_5end
chr12	58149447	58149465	CAGE_peak_5_at_MARCH9_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I058501	58501935	58506239	0.56	[{'connected_gene': 'MARCH9', 'score': 4.08}, {'connected_gene': 'GC12M058472', 'score': 0.44}, {'connected_gene': 'LOC105369788', 'score': 0.22}]
chr12	GH12I057902	57902136	57903116	0.56	[{'connected_gene': 'ATP23', 'score': 30.32}, {'connected_gene': 'MIR26A2', 'score': 11.69}, {'connected_gene': 'RNU6-1083P', 'score': 11.46}, {'connected_gene': 'CTDSP2', 'score': 11.24}, {'connected_gene': 'CYP27B1', 'score': 10.76}, {'connected_gene': 'AVIL', 'score': 10.59}, {'connected_gene': 'TSFM', 'score': 10.47}, {'connected_gene': 'MARCH9', 'score': 10.43}, {'connected_gene': 'CDK4', 'score': 10.43}, {'connected_gene': 'AGAP2-AS1', 'score': 9.66}, {'connected_gene': 'LOC283387', 'score': 9.17}, {'connected_gene': 'PIR32784', 'score': 0.31}]
chr12	GH12I057905	57905201	57906057	1.43	[{'connected_gene': 'ATP23', 'score': 33.55}, {'connected_gene': 'MIR26A2', 'score': 11.49}, {'connected_gene': 'RNU6-1083P', 'score': 11.45}, {'connected_gene': 'CTDSP2', 'score': 11.07}, {'connected_gene': 'AVIL', 'score': 10.82}, {'connected_gene': 'TSFM', 'score': 10.82}, {'connected_gene': 'CYP27B1', 'score': 10.69}, {'connected_gene': 'METTL1', 'score': 10.39}, {'connected_gene': 'EEF1AKMT3', 'score': 10.39}, {'connected_gene': 'CDK4', 'score': 9.39}, {'connected_gene': 'MARCH9', 'score': 9.38}, {'connected_gene': 'TSPAN31', 'score': 9.12}, {'connected_gene': 'AGAP2', 'score': 9.12}, {'connected_gene': 'LOC283387', 'score': 6.1}, {'connected_gene': 'PIR32784', 'score': 0.31}]
chr12	GH12I057109	57109362	57113145	2.36	[{'connected_gene': 'STAT6', 'score': 559.7}, {'connected_gene': 'NEMP1', 'score': 236.87}, {'connected_gene': 'EEF1AKMT3', 'score': 138.73}, {'connected_gene': 'ENSG00000257740', 'score': 138.46}, {'connected_gene': 'BAZ2A', 'score': 138.44}, {'connected_gene': 'PAN2', 'score': 119.77}, {'connected_gene': 'SMARCC2', 'score': 114.88}, {'connected_gene': 'ANKRD52', 'score': 112.8}, {'connected_gene': 'CDK4', 'score': 110.36}, {'connected_gene': 'CTDSP2', 'score': 99.63}, {'connected_gene': 'DTX3', 'score': 91.0}, {'connected_gene': 'ENSG00000224713', 'score': 89.84}, {'connected_gene': 'RN7SL809P', 'score': 86.1}, {'connected_gene': 'NAB2', 'score': 80.48}, {'connected_gene': 'LOC283387', 'score': 74.53}, {'connected_gene': 'ZC3H10', 'score': 69.62}, {'connected_gene': 'ZBTB39', 'score': 66.76}, {'connected_gene': 'RNU6-343P', 'score': 63.61}, {'connected_gene': 'SLC26A10', 'score': 58.77}, {'connected_gene': 'STAT2', 'score': 57.87}, {'connected_gene': 'ENSG00000258199', 'score': 57.25}, {'connected_gene': 'RBMS2', 'score': 48.75}, {'connected_gene': 'ENSG00000258317', 'score': 47.69}, {'connected_gene': 'TSPAN31', 'score': 41.47}, {'connected_gene': 'MBD6', 'score': 38.82}, {'connected_gene': 'PRIM1', 'score': 33.41}, {'connected_gene': 'ARHGEF25', 'score': 32.34}, {'connected_gene': 'RPL41', 'score': 31.89}, {'connected_gene': 'AGAP2-AS1', 'score': 31.24}, {'connected_gene': 'OS9', 'score': 30.29}, {'connected_gene': 'ESYT1', 'score': 28.56}, {'connected_gene': 'HSPD1P4', 'score': 26.59}, {'connected_gene': 'ENSG00000269903', 'score': 18.61}, {'connected_gene': 'PTGES3', 'score': 18.32}, {'connected_gene': 'MYL6', 'score': 11.82}, {'connected_gene': 'NABP2', 'score': 11.71}, {'connected_gene': 'ENSG00000257303', 'score': 11.66}, {'connected_gene': 'IL23A', 'score': 11.65}, {'connected_gene': 'B4GALNT1', 'score': 10.72}, {'connected_gene': 'R3HDM2', 'score': 10.38}, {'connected_gene': 'ENSG00000270039', 'score': 10.25}, {'connected_gene': 'KIF5A', 'score': 10.24}, {'connected_gene': 'NACA', 'score': 9.92}, {'connected_gene': 'MARCH9', 'score': 9.86}, {'connected_gene': 'CNPY2', 'score': 9.85}, {'connected_gene': 'ATP23', 'score': 9.66}, {'connected_gene': 'LRP1', 'score': 0.37}, {'connected_gene': 'GC12P057094', 'score': 0.37}, {'connected_gene': 'GC12P057095', 'score': 0.37}]
chr12	GH12I057238	57237478	57241897	1.76	[{'connected_gene': 'NDUFA4L2', 'score': 550.77}, {'connected_gene': 'STAT6', 'score': 20.28}, {'connected_gene': 'DTX3', 'score': 13.11}, {'connected_gene': 'NXPH4', 'score': 12.23}, {'connected_gene': 'ANKRD52', 'score': 12.16}, {'connected_gene': 'ENSG00000257740', 'score': 12.11}, {'connected_gene': 'NAB2', 'score': 10.54}, {'connected_gene': 'INHBE', 'score': 10.45}, {'connected_gene': 'TSPAN31', 'score': 10.39}, {'connected_gene': 'MYO1A', 'score': 10.14}, {'connected_gene': 'LRP1', 'score': 10.09}, {'connected_gene': 'PAN2', 'score': 10.09}, {'connected_gene': 'ZBTB39', 'score': 9.87}, {'connected_gene': 'MARCH9', 'score': 9.86}, {'connected_gene': 'CNPY2', 'score': 9.85}, {'connected_gene': 'MARS', 'score': 9.82}, {'connected_gene': 'ARHGAP9', 'score': 9.82}, {'connected_gene': 'EEF1AKMT3', 'score': 5.68}, {'connected_gene': 'TSFM', 'score': 5.64}, {'connected_gene': 'ENSG00000276727', 'score': 0.44}]
chr12	GH12I057861	57861658	57861807	0.83	[{'connected_gene': 'MIR26A2', 'score': 11.4}, {'connected_gene': 'AVIL', 'score': 10.65}, {'connected_gene': 'RNU6-1083P', 'score': 10.5}, {'connected_gene': 'TSFM', 'score': 10.38}, {'connected_gene': 'METTL1', 'score': 10.07}, {'connected_gene': 'EEF1AKMT3', 'score': 10.06}, {'connected_gene': 'CYP27B1', 'score': 10.06}, {'connected_gene': 'MARCH9', 'score': 9.71}, {'connected_gene': 'CDK4', 'score': 9.71}, {'connected_gene': 'LOC102724211', 'score': 0.39}, {'connected_gene': 'CTDSP2', 'score': 0.39}]
chr12	GH12I057903	57903212	57903915	0.38	[{'connected_gene': 'MIR26A2', 'score': 11.69}, {'connected_gene': 'RNU6-1083P', 'score': 11.45}, {'connected_gene': 'CTDSP2', 'score': 11.24}, {'connected_gene': 'AVIL', 'score': 10.83}, {'connected_gene': 'TSFM', 'score': 10.82}, {'connected_gene': 'CYP27B1', 'score': 10.69}, {'connected_gene': 'MARCH9', 'score': 10.43}, {'connected_gene': 'CDK4', 'score': 10.43}, {'connected_gene': 'METTL1', 'score': 10.39}, {'connected_gene': 'EEF1AKMT3', 'score': 10.39}, {'connected_gene': 'AGAP2-AS1', 'score': 9.66}, {'connected_gene': 'TSPAN31', 'score': 9.12}, {'connected_gene': 'AGAP2', 'score': 9.12}, {'connected_gene': 'LOC283387', 'score': 0.44}, {'connected_gene': 'PIR32784', 'score': 0.31}]
chr12	GH12I057863	57863630	57866206	1.62	[{'connected_gene': 'EEF1AKMT3', 'score': 33.64}, {'connected_gene': 'MIR26A2', 'score': 11.39}, {'connected_gene': 'CDK4', 'score': 11.06}, {'connected_gene': 'AVIL', 'score': 10.63}, {'connected_gene': 'RNU6-1083P', 'score': 10.5}, {'connected_gene': 'TSFM', 'score': 10.37}, {'connected_gene': 'METTL1', 'score': 10.06}, {'connected_gene': 'CYP27B1', 'score': 10.05}, {'connected_gene': 'MARCH9', 'score': 9.7}, {'connected_gene': 'CTDSP2', 'score': 2.38}, {'connected_gene': 'TSPAN31', 'score': 1.36}, {'connected_gene': 'LOC102724211', 'score': 0.44}]
chr12	GH12I057868	57868347	57870385	1.15	[{'connected_gene': 'EEF1AKMT3', 'score': 33.59}, {'connected_gene': 'AVIL', 'score': 13.26}, {'connected_gene': 'CTDSP2', 'score': 11.87}, {'connected_gene': 'MIR26A2', 'score': 11.39}, {'connected_gene': 'TSFM', 'score': 10.58}, {'connected_gene': 'METTL1', 'score': 10.57}, {'connected_gene': 'CYP27B1', 'score': 10.56}, {'connected_gene': 'RNU6-1083P', 'score': 10.49}, {'connected_gene': 'CDK4', 'score': 10.02}, {'connected_gene': 'MARCH9', 'score': 10.01}, {'connected_gene': 'DTX3', 'score': 2.5}, {'connected_gene': 'B4GALNT1', 'score': 2.42}, {'connected_gene': 'ARHGEF25', 'score': 1.94}, {'connected_gene': 'KIF5A', 'score': 1.79}, {'connected_gene': 'LOC102724211', 'score': 0.77}, {'connected_gene': 'LOC283387', 'score': 0.31}]
chr12	GH12I057733	57733632	57743280	2.52	[{'connected_gene': 'AGAP2', 'score': 562.69}, {'connected_gene': 'TSPAN31', 'score': 550.77}, {'connected_gene': 'TSFM', 'score': 43.03}, {'connected_gene': 'NEMP1', 'score': 33.72}, {'connected_gene': 'ARHGAP9', 'score': 22.88}, {'connected_gene': 'ATP23', 'score': 17.73}, {'connected_gene': 'CTDSP2', 'score': 13.36}, {'connected_gene': 'EEF1AKMT3', 'score': 13.34}, {'connected_gene': 'ENSG00000224713', 'score': 12.13}, {'connected_gene': 'CDK4', 'score': 11.29}, {'connected_gene': 'LOC283387', 'score': 11.24}, {'connected_gene': 'NAB2', 'score': 10.04}, {'connected_gene': 'DDIT3', 'score': 5.07}, {'connected_gene': 'KIF5A', 'score': 4.93}, {'connected_gene': 'MARCH9', 'score': 3.07}, {'connected_gene': 'MBD6', 'score': 1.28}]
chr12	GH12I057886	57886453	57900137	2.19	[{'connected_gene': 'LOC101927608', 'score': 550.77}, {'connected_gene': 'ATP23', 'score': 42.39}, {'connected_gene': 'EEF1AKMT3', 'score': 23.69}, {'connected_gene': 'CTDSP2', 'score': 13.43}, {'connected_gene': 'TSFM', 'score': 11.96}, {'connected_gene': 'MIR26A2', 'score': 11.8}, {'connected_gene': 'AVIL', 'score': 11.48}, {'connected_gene': 'RNU6-1083P', 'score': 11.31}, {'connected_gene': 'MARCH9', 'score': 9.95}, {'connected_gene': 'LOC283387', 'score': 9.51}, {'connected_gene': 'GLI1', 'score': 5.03}, {'connected_gene': 'TSPAN31', 'score': 2.54}, {'connected_gene': 'METTL1', 'score': 2.06}, {'connected_gene': 'CDK4', 'score': 1.81}, {'connected_gene': 'AGAP2', 'score': 1.27}, {'connected_gene': 'LOC102724211', 'score': 0.37}]
chr12	GH12I057750	57750668	57757047	2.14	[{'connected_gene': 'CDK4', 'score': 592.75}, {'connected_gene': 'MARCH9', 'score': 550.77}, {'connected_gene': 'NEMP1', 'score': 63.02}, {'connected_gene': 'TSFM', 'score': 47.01}, {'connected_gene': 'CTDSP2', 'score': 44.66}, {'connected_gene': 'EEF1AKMT3', 'score': 40.46}, {'connected_gene': 'MBD6', 'score': 31.74}, {'connected_gene': 'ENSG00000224713', 'score': 21.82}, {'connected_gene': 'LOC283387', 'score': 19.49}, {'connected_gene': 'TSPAN31', 'score': 12.17}, {'connected_gene': 'OS9', 'score': 10.54}, {'connected_gene': 'AGAP2-AS1', 'score': 10.26}, {'connected_gene': 'ZBTB39', 'score': 10.15}]
chr12	GH12I057759	57759498	57759627	0.52	[{'connected_gene': 'CDK4', 'score': 0.77}, {'connected_gene': 'PIR50274', 'score': 0.44}, {'connected_gene': 'MARCH9', 'score': 0.44}]
chr12	GH12I057001	57001517	57001726	0.98	[{'connected_gene': 'PIR61192', 'score': 550.77}, {'connected_gene': 'MYO1A', 'score': 17.71}, {'connected_gene': 'NAB2', 'score': 10.75}, {'connected_gene': 'SDR9C7', 'score': 10.06}, {'connected_gene': 'MARCH9', 'score': 9.86}, {'connected_gene': 'NACA', 'score': 9.18}, {'connected_gene': 'ZBTB39', 'score': 0.77}, {'connected_gene': 'PIR47701', 'score': 0.44}]