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
ENST00000577339	[[42976509, 42976898], [42978357, 42978509], [42978887, 42978922]]	[[42978366, 42978509], [42978887, 42978922]]
ENST00000410006	[[42977079, 42977197], [42978357, 42978509], [42978887, 42979020], [42979732, 42980250]]	[[42978366, 42978509], [42978887, 42979020], [42979732, 42980185]]
ENST00000357776	[[42977083, 42977211], [42978357, 42978509], [42978887, 42979020], [42979732, 42980168]]	[[42978366, 42978509], [42978887, 42979020], [42979732, 42980168]]
ENST00000410027	[[42977106, 42977227], [42978357, 42978509], [42978887, 42979020], [42979685, 42979850]]	[[42978366, 42978509], [42978887, 42979020], [42979685, 42979706]]
ENST00000412523	[[42977134, 42977211], [42978357, 42978471], [42980127, 42982758]]	[[42981197, 42982439]]
ENST00000417826	[[42977141, 42977227], [42978357, 42978509], [42978887, 42979020], [42979732, 42982758]]	[[42978366, 42978509], [42978887, 42979020], [42979732, 42980185]]
ENST00000331733	[[42977141, 42977227], [42978357, 42978509], [42978887, 42979020], [42979732, 42982758]]	[[42981197, 42982439]]
NM_001258395	[[42977079, 42977197], [42978357, 42978509], [42978887, 42979020], [42979732, 42981047]]	[[42978366, 42978509], [42978887, 42979020], [42979732, 42980185]]
NM_001258396	[[42977079, 42977211], [42978357, 42978509], [42978887, 42979020], [42979732, 42981047]]	[[42978366, 42978509], [42978887, 42979020], [42979732, 42980185]]
NM_001258398	[[42977079, 42977211], [42978357, 42978509], [42978887, 42979024], [42979735, 42981047]]	[[42978366, 42978509], [42978887, 42979024], [42979735, 42979767]]
NM_213607	[[42977079, 42977227], [42978357, 42978509], [42978887, 42979020], [42979732, 42981047]]	[[42978366, 42978509], [42978887, 42979020], [42979732, 42980185]]
NM_001258397	[[42977079, 42977227], [42978357, 42978509], [42978887, 42979020], [42979685, 42981047]]	[[42978366, 42978509], [42978887, 42979020], [42979685, 42979706]]
NM_001258399	[[42977079, 42977227], [42978357, 42978509], [42978887, 42979024], [42979732, 42981047]]	[[42978366, 42978509], [42978887, 42979024], [42979732, 42979767]]

Promoter

Chrom	Start	End	Description
chr17	42977062	42977115	CAGE_peak_1_at_CCDC103_5end
chr17	42977122	42977147	CAGE_peak_1_at_FAM187A_5end,CAGE_peak_2_at_CCDC103_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I044887	44887593	44889567	0.94	[{'connected_gene': 'EFTUD2', 'score': 48.3}, {'connected_gene': 'RN7SL405P', 'score': 0.77}, {'connected_gene': 'CCDC103', 'score': 0.39}]
chr17	GH17I044898	44898200	44902346	2.12	[{'connected_gene': 'EFTUD2', 'score': 599.63}, {'connected_gene': 'FAM187A', 'score': 567.0}, {'connected_gene': 'CCDC103', 'score': 550.77}, {'connected_gene': 'GJC1', 'score': 35.31}, {'connected_gene': 'TMUB2', 'score': 12.76}, {'connected_gene': 'HEXIM1', 'score': 12.44}, {'connected_gene': 'ASB16-AS1', 'score': 11.41}, {'connected_gene': 'ENSG00000267344', 'score': 10.94}, {'connected_gene': 'PIR50226', 'score': 0.77}]
chr17	GH17I045029	45029591	45032728	1.14	[{'connected_gene': 'DCAKD', 'score': 31.22}, {'connected_gene': 'NMT1', 'score': 12.34}, {'connected_gene': 'KIF18B', 'score': 11.66}, {'connected_gene': 'GFAP', 'score': 11.62}, {'connected_gene': 'C1QL1', 'score': 11.21}, {'connected_gene': 'HEXIM2', 'score': 10.98}, {'connected_gene': 'ENSG00000224505', 'score': 10.97}, {'connected_gene': 'EFTUD2', 'score': 10.6}, {'connected_gene': 'CCDC103', 'score': 10.6}, {'connected_gene': 'FAM187A', 'score': 10.6}, {'connected_gene': 'PLCD3', 'score': 8.92}, {'connected_gene': 'LRRC37A4P', 'score': 6.15}, {'connected_gene': 'GC17M045043', 'score': 0.39}, {'connected_gene': 'GC17M045006', 'score': 0.37}]
chr17	GH17I045020	45020155	45022693	1.36	[{'connected_gene': 'DCAKD', 'score': 27.36}, {'connected_gene': 'NMT1', 'score': 12.2}, {'connected_gene': 'C1QL1', 'score': 11.87}, {'connected_gene': 'GFAP', 'score': 11.7}, {'connected_gene': 'EFTUD2', 'score': 11.59}, {'connected_gene': 'CCDC103', 'score': 11.59}, {'connected_gene': 'FAM187A', 'score': 11.59}, {'connected_gene': 'KIF18B', 'score': 11.34}, {'connected_gene': 'HEXIM2', 'score': 11.08}, {'connected_gene': 'ENSG00000224505', 'score': 11.07}, {'connected_gene': 'MEIOC', 'score': 9.31}, {'connected_gene': 'GC17M045006', 'score': 0.44}, {'connected_gene': 'GC17M045043', 'score': 0.34}]
chr17	GH17I045036	45036673	45036822	0.52	[{'connected_gene': 'DCAKD', 'score': 12.34}, {'connected_gene': 'KIF18B', 'score': 11.65}, {'connected_gene': 'GFAP', 'score': 11.61}, {'connected_gene': 'C1QL1', 'score': 11.21}, {'connected_gene': 'HEXIM2', 'score': 10.98}, {'connected_gene': 'ENSG00000224505', 'score': 10.98}, {'connected_gene': 'EFTUD2', 'score': 10.6}, {'connected_gene': 'CCDC103', 'score': 10.6}, {'connected_gene': 'FAM187A', 'score': 10.6}, {'connected_gene': 'GC17M045043', 'score': 0.44}, {'connected_gene': 'GC17M045006', 'score': 0.34}]
chr17	GH17I045034	45034375	45035355	0.2	[{'connected_gene': 'DCAKD', 'score': 12.31}, {'connected_gene': 'KIF18B', 'score': 11.65}, {'connected_gene': 'GFAP', 'score': 11.61}, {'connected_gene': 'C1QL1', 'score': 11.21}, {'connected_gene': 'HEXIM2', 'score': 10.98}, {'connected_gene': 'ENSG00000224505', 'score': 10.98}, {'connected_gene': 'EFTUD2', 'score': 10.6}, {'connected_gene': 'CCDC103', 'score': 10.6}, {'connected_gene': 'FAM187A', 'score': 10.6}, {'connected_gene': 'GC17M045043', 'score': 0.39}, {'connected_gene': 'GC17M045006', 'score': 0.34}]
chr17	GH17I045009	45009170	45011285	0.57	[{'connected_gene': 'DCAKD', 'score': 24.78}, {'connected_gene': 'KIF18B', 'score': 12.28}, {'connected_gene': 'C1QL1', 'score': 11.74}, {'connected_gene': 'EFTUD2', 'score': 11.66}, {'connected_gene': 'CCDC103', 'score': 11.66}, {'connected_gene': 'FAM187A', 'score': 11.66}, {'connected_gene': 'GFAP', 'score': 11.65}, {'connected_gene': 'NMT1', 'score': 11.45}, {'connected_gene': 'PLCD3', 'score': 7.97}, {'connected_gene': 'GC17M045006', 'score': 0.77}, {'connected_gene': 'GC17M044982', 'score': 0.31}]
chr17	GH17I045003	45003114	45005058	0.38	[{'connected_gene': 'DCAKD', 'score': 23.98}, {'connected_gene': 'KIF18B', 'score': 12.29}, {'connected_gene': 'C1QL1', 'score': 11.68}, {'connected_gene': 'EFTUD2', 'score': 11.68}, {'connected_gene': 'CCDC103', 'score': 11.68}, {'connected_gene': 'FAM187A', 'score': 11.68}, {'connected_gene': 'GFAP', 'score': 11.66}, {'connected_gene': 'NMT1', 'score': 11.43}, {'connected_gene': 'GC17M045006', 'score': 0.44}, {'connected_gene': 'GC17M044982', 'score': 0.34}]
chr17	GH17I044781	44781358	44783032	0.94	[{'connected_gene': 'ADAM11', 'score': 20.47}, {'connected_gene': 'DBF4B', 'score': 13.61}, {'connected_gene': 'GJC1', 'score': 12.67}, {'connected_gene': 'HIGD1B', 'score': 12.02}, {'connected_gene': 'EFTUD2', 'score': 11.27}, {'connected_gene': 'CCDC103', 'score': 11.27}, {'connected_gene': 'FAM187A', 'score': 11.27}, {'connected_gene': 'GFAP', 'score': 11.15}, {'connected_gene': 'MEIOC', 'score': 10.45}, {'connected_gene': 'C1QL1', 'score': 10.24}, {'connected_gene': 'ENSG00000267505', 'score': 7.12}, {'connected_gene': 'GC17P044768', 'score': 0.39}, {'connected_gene': 'GC17M044778', 'score': 0.25}]
chr17	GH17I045006	45006984	45007326	0.87	[{'connected_gene': 'KIF18B', 'score': 12.29}, {'connected_gene': 'C1QL1', 'score': 11.68}, {'connected_gene': 'EFTUD2', 'score': 11.67}, {'connected_gene': 'CCDC103', 'score': 11.67}, {'connected_gene': 'FAM187A', 'score': 11.67}, {'connected_gene': 'GFAP', 'score': 11.65}, {'connected_gene': 'NMT1', 'score': 11.45}, {'connected_gene': 'DCAKD', 'score': 11.42}, {'connected_gene': 'GC17M045006', 'score': 0.44}, {'connected_gene': 'GC17M044982', 'score': 0.34}]
chr17	GH17I044904	44904792	44907759	1.14	[{'connected_gene': 'GC17M044904', 'score': 550.77}, {'connected_gene': 'GC17P044905', 'score': 550.77}, {'connected_gene': 'GC17P044908', 'score': 550.77}, {'connected_gene': 'PIR49404', 'score': 550.77}, {'connected_gene': 'EFTUD2', 'score': 49.05}, {'connected_gene': 'FAM187A', 'score': 16.28}, {'connected_gene': 'UBTF', 'score': 12.79}, {'connected_gene': 'ASB16-AS1', 'score': 11.3}, {'connected_gene': 'CCDC103', 'score': 0.44}, {'connected_gene': 'GFAP', 'score': 0.39}]