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
ENST00000488342	[[165349321, 165349692], [165350940, 165351034], [165353517, 165353605], [165353720, 165353793], [165353883, 165354000], [165358764, 165358845], [165364964, 165365113], [165365251, 165365362], [165378489, 165378627], [165381513, 165381588], [165383523, 165383645], [165404169, 165404326], [165476196, 165476329], [165477628, 165477902]]	None
ENST00000263915	[[165349325, 165349692], [165350940, 165351034], [165353517, 165353605], [165353720, 165353793], [165353883, 165354000], [165358764, 165358845], [165364964, 165365060], [165365251, 165365362], [165378489, 165378627], [165381513, 165381588], [165383523, 165383645], [165404169, 165404326], [165476196, 165476329], [165477628, 165478358]]	[[165349545, 165349692], [165350940, 165351034], [165353517, 165353605], [165353720, 165353793], [165353883, 165354000], [165358764, 165358845], [165364964, 165365060], [165365251, 165365362], [165378489, 165378627], [165381513, 165381588], [165383523, 165383645], [165404169, 165404326], [165476196, 165476329], [165477628, 165477819]]
ENST00000543549	[[165349332, 165349692], [165350940, 165351034], [165353517, 165353605], [165353720, 165353793], [165353883, 165354000], [165358764, 165358845], [165364964, 165365060], [165365251, 165365362], [165378489, 165378627], [165381513, 165381588], [165383523, 165383645], [165404169, 165404326], [165424824, 165425005]]	[[165349545, 165349692], [165350940, 165351034], [165353517, 165353605], [165353720, 165353793], [165353883, 165354000], [165358764, 165358845], [165364964, 165365060], [165365251, 165365362], [165378489, 165378627], [165381513, 165381588], [165383523, 165383645], [165404169, 165404326], [165424824, 165424887]]
ENST00000446413	[[165353517, 165353605], [165353720, 165353793], [165353883, 165354000], [165358764, 165358845], [165364964, 165365060], [165365251, 165365362], [165378489, 165378627], [165381513, 165381588], [165383523, 165383645], [165404169, 165404326], [165476196, 165476329], [165477744, 165477988]]	[[165353517, 165353605], [165353720, 165353793], [165353883, 165354000], [165358764, 165358845], [165364964, 165365060], [165365251, 165365362], [165378489, 165378627], [165381513, 165381588], [165383523, 165383645], [165404169, 165404326], [165476196, 165476329], [165477744, 165477800]]
ENST00000469573	[[165365172, 165365362], [165378489, 165378627], [165381513, 165381588], [165383523, 165383645], [165396275, 165396407], [165404169, 165404326], [165424824, 165424994]]	None
ENST00000424693	[[165381551, 165381588], [165383523, 165383645], [165404169, 165404326], [165476196, 165476467]]	[[165381551, 165381588], [165383523, 165383645], [165404169, 165404326], [165476196, 165476346]]
ENST00000497306	[[165349331, 165349692], [165353517, 165353562]]	None
NM_001303422	[[165348915, 165349692], [165350940, 165351034], [165353517, 165353605], [165353720, 165353793], [165353883, 165354000], [165358764, 165358845], [165364964, 165365060], [165365251, 165365362], [165378489, 165378627], [165381513, 165381588], [165383523, 165383645], [165404169, 165404326], [165424824, 165425060]]	[[165349545, 165349692], [165350940, 165351034], [165353517, 165353605], [165353720, 165353793], [165353883, 165354000], [165358764, 165358845], [165364964, 165365060], [165365251, 165365362], [165378489, 165378627], [165381513, 165381588], [165383523, 165383645], [165404169, 165404326], [165424824, 165424887]]
NM_004490	[[165349322, 165349692], [165350940, 165351034], [165353517, 165353605], [165353720, 165353793], [165353883, 165354000], [165358764, 165358845], [165364964, 165365060], [165365251, 165365362], [165378489, 165378627], [165381513, 165381588], [165383523, 165383645], [165404169, 165404326], [165476196, 165476329], [165477628, 165478360]]	[[165349545, 165349692], [165350940, 165351034], [165353517, 165353605], [165353720, 165353793], [165353883, 165354000], [165358764, 165358845], [165364964, 165365060], [165365251, 165365362], [165378489, 165378627], [165381513, 165381588], [165383523, 165383645], [165404169, 165404326], [165476196, 165476329], [165477628, 165477819]]

Promoter

Chrom	Start	End	Description
chr2	165424899	165424913	CAGE_peak_6_at_GRB14_5end
chr2	165424973	165425010	CAGE_peak_2_at_GRB14_5end
chr2	165425016	165425028	CAGE_peak_7_at_GRB14_5end
chr2	165425034	165425044	CAGE_peak_8_at_GRB14_5end
chr2	165477952	165477968	CAGE_peak_3_at_GRB14_5end
chr2	165477971	165478015	CAGE_peak_1_at_GRB14_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I164700	164700109	164701949	0.38	[{'connected_gene': 'GRB14', 'score': 7.32}, {'connected_gene': 'SLC38A11', 'score': 6.15}, {'connected_gene': 'SNORA70F', 'score': 4.77}, {'connected_gene': 'COBLL1', 'score': 4.18}, {'connected_gene': 'GC02M164689', 'score': 0.39}, {'connected_gene': 'GC02M164829', 'score': 0.12}]
chr2	GH02I164620	164620601	164622201	1.84	[{'connected_gene': 'GRB14', 'score': 550.77}, {'connected_gene': 'SLC38A11', 'score': 4.16}, {'connected_gene': 'GC02M164552', 'score': 0.44}]
chr2	GH02I164567	164567214	164568683	0.68	[{'connected_gene': 'GRB14', 'score': 15.99}, {'connected_gene': 'EIF3EP3', 'score': 0.44}, {'connected_gene': 'GC02M164552', 'score': 0.25}, {'connected_gene': 'ENSG00000237844', 'score': 0.08}]
chr2	GH02I163805	163805096	163805920	0.6	[{'connected_gene': 'GRB14', 'score': 5.08}, {'connected_gene': 'GC02P163800', 'score': 0.77}, {'connected_gene': 'GC02P164066', 'score': 0.07}, {'connected_gene': 'ENSG00000237844', 'score': 0.03}]
chr2	GH02I164652	164652088	164652343	0.22	[{'connected_gene': 'COBLL1', 'score': 2.09}, {'connected_gene': 'GRB14', 'score': 0.29}, {'connected_gene': 'ENSG00000224331', 'score': 0.28}]
chr2	GH02I164695	164695531	164696765	0.38	[{'connected_gene': 'SLC38A11', 'score': 6.1}, {'connected_gene': 'GRB14', 'score': 5.25}, {'connected_gene': 'GC02M164689', 'score': 0.44}, {'connected_gene': 'SNORA70F', 'score': 0.44}, {'connected_gene': 'GC02M164829', 'score': 0.12}, {'connected_gene': 'COBLL1', 'score': 0.11}]
chr2	GH02I164747	164747054	164751540	0.46	[{'connected_gene': 'SLC38A11', 'score': 18.24}, {'connected_gene': 'COBLL1', 'score': 7.0}, {'connected_gene': 'GRB14', 'score': 4.58}, {'connected_gene': 'GC02M164689', 'score': 0.21}, {'connected_gene': 'SNORA70F', 'score': 0.21}, {'connected_gene': 'GC02M164829', 'score': 0.18}]
chr2	GH02I164513	164513999	164515652	0.8	[{'connected_gene': 'EIF3EP3', 'score': 0.22}, {'connected_gene': 'GRB14', 'score': 0.14}, {'connected_gene': 'ENSG00000237844', 'score': 0.1}]
chr2	GH02I164523	164523151	164523300	0.31	[{'connected_gene': 'EIF3EP3', 'score': 0.23}, {'connected_gene': 'GRB14', 'score': 0.15}, {'connected_gene': 'ENSG00000237844', 'score': 0.09}]
chr2	GH02I164573	164573730	164573921	0.23	[{'connected_gene': 'EIF3EP3', 'score': 550.77}, {'connected_gene': 'GRB14', 'score': 11.28}, {'connected_gene': 'GC02M164552', 'score': 0.28}]
chr2	GH02I164600	164600091	164600240	0.75	[{'connected_gene': 'GC02M164552', 'score': 0.39}, {'connected_gene': 'GRB14', 'score': 0.34}, {'connected_gene': 'EIF3EP3', 'score': 0.31}]
chr2	GH02I164661	164661491	164661640	0.71	[{'connected_gene': 'ENSG00000224331', 'score': 11.52}, {'connected_gene': 'SNORA70F', 'score': 11.52}, {'connected_gene': 'GRB14', 'score': 10.5}, {'connected_gene': 'COBLL1', 'score': 0.09}]
chr2	GH02I164656	164656510	164657783	0.2	[{'connected_gene': 'ENSG00000224331', 'score': 11.83}, {'connected_gene': 'SNORA70F', 'score': 11.83}, {'connected_gene': 'GRB14', 'score': 11.43}, {'connected_gene': 'SLC38A11', 'score': 5.23}, {'connected_gene': 'COBLL1', 'score': 0.09}]