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
ENST00000358415	[[7745231, 7745481], [7747070, 7747145], [7749163, 7749196], [7750984, 7751154], [7755143, 7755248], [7759588, 7759751], [7762818, 7762926], [7763611, 7763740], [7765413, 7765530], [7768912, 7769081], [7769665, 7769791], [7771914, 7772096], [7773773, 7773959], [7774300, 7774440], [7776884, 7777054], [7780583, 7780721], [7785108, 7785222], [7786044, 7786243], [7786753, 7786926], [7788555, 7788667], [7791149, 7791483]]	[[7745397, 7745481], [7747070, 7747145], [7749163, 7749196], [7750984, 7751154], [7755143, 7755248], [7759588, 7759751], [7762818, 7762926], [7763611, 7763740], [7765413, 7765530], [7768912, 7769081], [7769665, 7769791], [7771914, 7772096], [7773773, 7773959], [7774300, 7774440], [7776884, 7777054], [7780583, 7780721], [7785108, 7785222], [7786044, 7786243], [7786753, 7786926], [7788555, 7788667], [7791149, 7791297]]
ENST00000473227	[[7745308, 7745481], [7747070, 7747145], [7749163, 7749196], [7750984, 7751154], [7755143, 7755346]]	None
ENST00000480387	[[7745330, 7745481], [7747070, 7747145], [7749163, 7749196], [7755143, 7755248], [7759588, 7759751], [7762818, 7762864]]	None
ENST00000429820	[[7745342, 7745481], [7749163, 7749196], [7750984, 7751154], [7755143, 7755248], [7759588, 7759751], [7762818, 7762926], [7763611, 7763660]]	[[7745397, 7745481], [7749163, 7749196], [7750984, 7751154], [7755143, 7755248], [7759588, 7759751], [7762818, 7762926], [7763611, 7763660]]
ENST00000379587	[[7745362, 7745481], [7747070, 7747145], [7750984, 7751154], [7755143, 7755248], [7759588, 7759751], [7762818, 7762926], [7763611, 7763740], [7765413, 7765530], [7768912, 7769081], [7769665, 7769791], [7771914, 7772096], [7773773, 7773959], [7774300, 7774440], [7776884, 7777054], [7780583, 7780721], [7785108, 7785222], [7786044, 7786243], [7786753, 7786926], [7788555, 7788667], [7791149, 7791302]]	[[7745397, 7745481], [7747070, 7747145], [7750984, 7751154], [7755143, 7755248], [7759588, 7759751], [7762818, 7762926], [7763611, 7763740], [7765413, 7765530], [7768912, 7769081], [7769665, 7769791], [7771914, 7772096], [7773773, 7773959], [7774300, 7774440], [7776884, 7777054], [7780583, 7780721], [7785108, 7785222], [7786044, 7786243], [7786753, 7786926], [7788555, 7788667], [7791149, 7791297]]
ENST00000477751	[[7771827, 7772096], [7773773, 7773959], [7774300, 7774436]]	None
NM_002216	[[7745235, 7745481], [7747070, 7747145], [7749163, 7749196], [7750984, 7751154], [7755143, 7755248], [7759588, 7759751], [7762818, 7762926], [7763611, 7763740], [7765413, 7765530], [7768912, 7769081], [7769665, 7769791], [7771914, 7772096], [7773773, 7773959], [7774300, 7774440], [7776884, 7777054], [7780583, 7780721], [7785108, 7785222], [7786044, 7786243], [7786753, 7786926], [7788555, 7788667], [7791149, 7791483]]	[[7745397, 7745481], [7747070, 7747145], [7749163, 7749196], [7750984, 7751154], [7755143, 7755248], [7759588, 7759751], [7762818, 7762926], [7763611, 7763740], [7765413, 7765530], [7768912, 7769081], [7769665, 7769791], [7771914, 7772096], [7773773, 7773959], [7774300, 7774440], [7776884, 7777054], [7780583, 7780721], [7785108, 7785222], [7786044, 7786243], [7786753, 7786926], [7788555, 7788667], [7791149, 7791297]]

Promoter

Chrom	Start	End	Description
chr10	7745167	7745178	CAGE_peak_3_at_ITIH2_5end
chr10	7745263	7745295	CAGE_peak_2_at_ITIH2_5end
chr10	7745303	7745349	CAGE_peak_1_at_ITIH2_5end
chr10	7769692	7769699	CAGE_peak_5_at_ITIH2_5end
chr10	7769727	7769743	CAGE_peak_4_at_ITIH2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr10	GH10I007817	7817578	7819853	2.08	[{'connected_gene': 'TAF3', 'score': 550.77}, {'connected_gene': 'ATP5F1C', 'score': 15.15}, {'connected_gene': 'ITIH2', 'score': 5.08}, {'connected_gene': 'GC10M007828', 'score': 0.39}]
chr10	GH10I007786	7786719	7790872	2.01	[{'connected_gene': 'ATP5F1C', 'score': 565.6}, {'connected_gene': 'KIN', 'score': 560.58}, {'connected_gene': 'ITIH2', 'score': 6.98}, {'connected_gene': 'GC10M007790', 'score': 0.44}]
chr10	GH10I007854	7854305	7856119	0.2	[{'connected_gene': 'ITIH2', 'score': 4.85}, {'connected_gene': 'GC10P007866', 'score': 0.39}, {'connected_gene': 'ENSG00000233990', 'score': 0.34}, {'connected_gene': 'TAF3', 'score': 0.28}]
chr10	GH10I007549	7549561	7550528	0.2	[{'connected_gene': 'ITIH2', 'score': 11.89}, {'connected_gene': 'ITIH5', 'score': 10.78}, {'connected_gene': 'GC10P007544', 'score': 0.44}, {'connected_gene': 'GC10P007578', 'score': 0.31}]
chr10	GH10I007701	7701504	7701582	0.33	[{'connected_gene': 'ITIH2', 'score': 550.77}, {'connected_gene': 'ITIH5', 'score': 0.29}]
chr10	GH10I007696	7696638	7696847	0.72	[{'connected_gene': 'ITIH2', 'score': 0.44}, {'connected_gene': 'ITIH5', 'score': 0.31}]
chr10	GH10I007697	7696858	7697994	0.7	[{'connected_gene': 'ITIH2', 'score': 0.44}, {'connected_gene': 'ITIH5', 'score': 0.29}]
chr10	GH10I007703	7703308	7703367	1.1	[{'connected_gene': 'ITIH2', 'score': 550.77}, {'connected_gene': 'GC10P007710', 'score': 0.44}]
chr10	GH10I007229	7229779	7235664	1.17	[{'connected_gene': 'KIN', 'score': 16.18}, {'connected_gene': 'SFMBT2', 'score': 4.69}, {'connected_gene': 'ITIH2', 'score': 1.49}, {'connected_gene': 'GC10P007174', 'score': 0.22}, {'connected_gene': 'COX6CP17', 'score': 0.21}]
chr10	GH10I007687	7687358	7687547	0.88	[{'connected_gene': 'LOC105376390', 'score': 10.55}, {'connected_gene': 'ITIH2', 'score': 0.37}, {'connected_gene': 'ITIH5', 'score': 0.34}]
chr10	GH10I007796	7796770	7799076	0.83	[{'connected_gene': 'GC10M007790', 'score': 550.77}, {'connected_gene': 'ITIH2', 'score': 16.88}, {'connected_gene': 'GC10P007806', 'score': 0.44}, {'connected_gene': 'ATP5F1C', 'score': 0.44}, {'connected_gene': 'PIR42243', 'score': 0.44}]
chr10	GH10I007794	7794732	7796508	0.76	[{'connected_gene': 'GC10M007790', 'score': 550.77}, {'connected_gene': 'ITIH2', 'score': 13.57}, {'connected_gene': 'ATP5F1C', 'score': 0.44}]