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
ENST00000282050	[[43664109, 43664329], [43664469, 43664620], [43666078, 43666223], [43666352, 43666460], [43666973, 43667198], [43667306, 43667458], [43668074, 43668223], [43669531, 43669698], [43669788, 43669962], [43671647, 43671817], [43675018, 43675097], [43678137, 43678245], [43684102, 43684199]]	[[43664247, 43664329], [43664469, 43664620], [43666078, 43666223], [43666352, 43666460], [43666973, 43667198], [43667306, 43667458], [43668074, 43668223], [43669531, 43669698], [43669788, 43669962], [43671647, 43671817], [43675018, 43675097], [43678137, 43678197]]
ENST00000586523	[[43664115, 43668662]]	None
ENST00000593152	[[43664115, 43664329], [43664469, 43664620], [43666078, 43666223], [43666352, 43666460], [43666973, 43667198], [43667306, 43667458], [43668074, 43668223], [43669531, 43669698], [43669788, 43669962], [43671647, 43671817], [43675018, 43675097], [43677801, 43678251]]	[[43664247, 43664329], [43664469, 43664620], [43666078, 43666223], [43666352, 43666460], [43666973, 43667198], [43667306, 43667458], [43668074, 43668223], [43669531, 43669698], [43669788, 43669962], [43671647, 43671806]]
ENST00000590156	[[43664115, 43664329], [43664469, 43664620], [43666078, 43666223], [43666352, 43666460], [43666973, 43667198], [43667306, 43667458], [43668074, 43668223], [43669531, 43669698], [43669788, 43669962], [43671647, 43671817], [43674945, 43675097], [43678137, 43678261]]	[[43674980, 43675097], [43678137, 43678197]]
ENST00000590665	[[43664115, 43664329], [43664469, 43664620], [43666078, 43666223], [43666352, 43666460], [43666973, 43667198], [43667306, 43667458], [43668074, 43668223], [43669531, 43669698], [43669854, 43669962], [43671647, 43671817], [43675018, 43675097], [43678137, 43678262]]	[[43664247, 43664329], [43664469, 43664620], [43666078, 43666223], [43666352, 43666460], [43666973, 43667198], [43667306, 43667458], [43668074, 43668223], [43669531, 43669698], [43669854, 43669962], [43671647, 43671817], [43675018, 43675097], [43678137, 43678197]]
ENST00000586592	[[43664115, 43664329], [43664469, 43664620], [43666078, 43666223], [43666352, 43666460], [43666973, 43667198], [43667306, 43667458], [43668074, 43668223], [43669531, 43669698], [43669788, 43669962], [43671647, 43671817], [43675018, 43675097], [43677801, 43678281]]	[[43677924, 43678197]]
ENST00000398752	[[43664115, 43664329], [43664469, 43664620], [43666078, 43666223], [43666352, 43666460], [43666973, 43667198], [43667306, 43667458], [43668074, 43668223], [43669531, 43669698], [43669788, 43669962], [43671647, 43671817], [43675018, 43675097], [43678137, 43678319]]	[[43664247, 43664329], [43664469, 43664620], [43666078, 43666223], [43666352, 43666460], [43666973, 43667198], [43667306, 43667458], [43668074, 43668223], [43669531, 43669698], [43669788, 43669962], [43671647, 43671817], [43675018, 43675097], [43678137, 43678197]]
ENST00000587902	[[43664392, 43664620], [43666078, 43666223], [43666352, 43666550]]	None
ENST00000592364	[[43666092, 43666223], [43666352, 43666460], [43666973, 43667030], [43671730, 43671817], [43675018, 43675097], [43678137, 43678251]]	[[43667022, 43667030], [43671730, 43671817], [43675018, 43675097], [43678137, 43678197]]
ENST00000589252	[[43667392, 43667458], [43668074, 43668223], [43669531, 43669698], [43669788, 43669865], [43675018, 43675097], [43678137, 43678261]]	[[43667392, 43667458], [43668074, 43668223], [43669531, 43669698], [43669788, 43669865], [43675018, 43675097], [43678137, 43678197]]
ENST00000589869	[[43668101, 43668223], [43669531, 43669698], [43669788, 43669962], [43671647, 43671817], [43675018, 43675097], [43684102, 43684300]]	[[43668101, 43668223], [43669531, 43669698], [43669788, 43669962], [43671647, 43671806]]
ENST00000589611	[[43669394, 43669698], [43669788, 43669962], [43671647, 43672164]]	None
ENST00000590406	[[43669564, 43669698], [43669788, 43669962], [43671647, 43671817], [43675018, 43675097], [43678137, 43678245], [43684102, 43684193]]	[[43669564, 43669698], [43669788, 43669962], [43671647, 43671817], [43675018, 43675097], [43678137, 43678197]]
ENST00000590324	[[43669597, 43669698], [43669788, 43669962], [43671647, 43671817], [43673145, 43673331], [43675018, 43675097], [43684102, 43684199]]	[[43669597, 43669698], [43669788, 43669962], [43671647, 43671806]]
ENST00000590448	[[43669724, 43669962], [43671647, 43671817], [43675018, 43675097], [43684102, 43684219]]	None
ENST00000591981	[[43669787, 43669962], [43671647, 43671817], [43675018, 43675113], [43678137, 43678262]]	[[43675038, 43675113], [43678137, 43678197]]
ENST00000592989	[[43669787, 43669962], [43671647, 43671817], [43675018, 43675089], [43684102, 43684239]]	[[43669787, 43669962], [43671647, 43671806]]
ENST00000585650	[[43669924, 43669962], [43671647, 43671817], [43673145, 43673328], [43675018, 43675097], [43679268, 43679318]]	[[43673208, 43673328], [43675018, 43675097], [43679268, 43679306]]
ENST00000591267	[[43673145, 43673328], [43674945, 43675097], [43678137, 43678262]]	None
ENST00000588390	[[43674665, 43675097], [43678137, 43678261]]	None

Promoter

Chrom	Start	End	Description
chr18	43669647	43669681	CAGE_peak_2_at_ATP5A1_5end
chr18	43678241	43678268	CAGE_peak_1_at_ATP5A1_5end
chr18	43684186	43684198	CAGE_peak_5_at_ATP5A1_5end
chr18	43684202	43684207	CAGE_peak_16_at_ATP5A1_5end
chr18	43684211	43684228	CAGE_peak_12_at_ATP5A1_5end
chr18	43684230	43684257	CAGE_peak_6_at_ATP5A1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr18	GH18I046074	46073575	46073724	0.66	[{'connected_gene': 'PSTPIP2', 'score': 550.77}, {'connected_gene': 'ATP5F1A', 'score': 15.31}, {'connected_gene': 'GC18M046078', 'score': 0.77}, {'connected_gene': 'RNY4P37', 'score': 0.77}]
chr18	GH18I046068	46068606	46072601	2.1	[{'connected_gene': 'PSTPIP2', 'score': 556.23}, {'connected_gene': 'HAUS1', 'score': 27.25}, {'connected_gene': 'ATP5F1A', 'score': 15.38}, {'connected_gene': 'LOC100422497', 'score': 0.26}]
chr18	GH18I046042	46042053	46043411	0.83	[{'connected_gene': 'PSTPIP2', 'score': 13.69}, {'connected_gene': 'RNY4P37', 'score': 13.67}, {'connected_gene': 'ATP5F1A', 'score': 5.04}, {'connected_gene': 'LOC100422497', 'score': 0.39}]
chr18	GH18I046096	46096384	46099311	1.98	[{'connected_gene': 'ATP5F1A', 'score': 565.63}, {'connected_gene': 'GC18P046096', 'score': 550.77}, {'connected_gene': 'HAUS1', 'score': 39.58}, {'connected_gene': 'RNY4P37', 'score': 12.55}, {'connected_gene': 'PSTPIP2', 'score': 12.52}, {'connected_gene': 'RN7SKP26', 'score': 12.18}, {'connected_gene': 'EPG5', 'score': 9.77}]
chr18	GH18I046259	46259381	46265998	0.89	[{'connected_gene': 'RNF165', 'score': 11.24}, {'connected_gene': 'ATP5F1A', 'score': 6.51}, {'connected_gene': 'C18orf25', 'score': 6.24}, {'connected_gene': 'GC18P046277', 'score': 0.39}]
chr18	GH18I046080	46080299	46080770	0.2	[{'connected_gene': 'HAUS1', 'score': 28.07}, {'connected_gene': 'ATP5F1A', 'score': 15.12}, {'connected_gene': 'GC18M046078', 'score': 0.77}, {'connected_gene': 'RNY4P37', 'score': 0.77}, {'connected_gene': 'GC18M046084', 'score': 0.44}]
chr18	GH18I046104	46103715	46105433	1.96	[{'connected_gene': 'HAUS1', 'score': 578.51}, {'connected_gene': 'ATP5F1A', 'score': 550.77}, {'connected_gene': 'GC18M046122', 'score': 0.37}, {'connected_gene': 'RNU6-1278P', 'score': 0.37}]
chr18	GH18I046113	46113915	46114064	0.49	[{'connected_gene': 'HAUS1', 'score': 0.44}, {'connected_gene': 'GC18M046122', 'score': 0.44}, {'connected_gene': 'ATP5F1A', 'score': 0.44}, {'connected_gene': 'RNU6-1278P', 'score': 0.44}]
chr18	GH18I046103	46103599	46103658	0.73	[{'connected_gene': 'HAUS1', 'score': 550.77}, {'connected_gene': 'ATP5F1A', 'score': 550.77}, {'connected_gene': 'GC18P046096', 'score': 0.44}]
chr18	GH18I046088	46088038	46089453	0.38	[{'connected_gene': 'TRK-CTT6-1', 'score': 550.77}, {'connected_gene': 'GC18M046084', 'score': 550.77}, {'connected_gene': 'HAUS1', 'score': 28.02}, {'connected_gene': 'ATP5F1A', 'score': 15.37}]
chr18	GH18I046248	46248109	46251922	1.39	[{'connected_gene': 'ENSG00000267724', 'score': 14.36}, {'connected_gene': 'IER3IP1', 'score': 10.14}, {'connected_gene': 'PSTPIP2', 'score': 8.64}, {'connected_gene': 'C18orf25', 'score': 6.7}, {'connected_gene': 'ATP5F1A', 'score': 6.7}, {'connected_gene': 'EPG5', 'score': 2.9}, {'connected_gene': 'GC18P046277', 'score': 0.31}]