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
ENST00000244230	[[71357443, 71357884], [71360027, 71360706], [71361077, 71361235], [71361755, 71361927], [71365619, 71365761], [71366924, 71366992], [71368361, 71368499], [71371557, 71371668], [71375128, 71375236], [71376352, 71376583], [71376995, 71377231]]	[[71357795, 71357884], [71360027, 71360706], [71361077, 71361235], [71361755, 71361927], [71365619, 71365761], [71366924, 71366992], [71368361, 71368499], [71371557, 71371668], [71375128, 71375236], [71376352, 71376583], [71376995, 71377145]]
ENST00000498451	[[71357761, 71357884], [71360027, 71360706], [71361077, 71361235], [71361755, 71361927], [71365619, 71366555]]	[[71357795, 71357884], [71360027, 71360706], [71361077, 71361235], [71361755, 71361927], [71365619, 71365910]]
ENST00000468427	[[71357763, 71357975], [71360027, 71360298]]	None
ENST00000476969	[[71371369, 71371668], [71375128, 71375236], [71376352, 71376417]]	None
ENST00000493360	[[71375235, 71376583], [71376995, 71377231]]	None
NM_005791	[[71357443, 71357884], [71360027, 71360706], [71361077, 71361235], [71361755, 71361927], [71365619, 71365761], [71366924, 71366992], [71368361, 71368499], [71371557, 71371668], [71375128, 71375236], [71376352, 71376583], [71376995, 71377232]]	[[71357795, 71357884], [71360027, 71360706], [71361077, 71361235], [71361755, 71361927], [71365619, 71365761], [71366924, 71366992], [71368361, 71368499], [71371557, 71371668], [71375128, 71375236], [71376352, 71376583], [71376995, 71377145]]

Promoter

Chrom	Start	End	Description
chr2	71357434	71357488	CAGE_peak_2_at_MPHOSPH10_5end
chr2	71357490	71357507	CAGE_peak_5_at_MPHOSPH10_5end
chr2	71357516	71357523	CAGE_peak_14_at_MPHOSPH10_5end
chr2	71357527	71357532	CAGE_peak_15_at_MPHOSPH10_5end
chr2	71357575	71357580	CAGE_peak_16_at_MPHOSPH10_5end
chr2	71357689	71357700	CAGE_peak_7_at_MPHOSPH10_5end
chr2	71357716	71357727	CAGE_peak_4_at_MPHOSPH10_5end
chr2	71357734	71357739	CAGE_peak_3_at_MPHOSPH10_5end
chr2	71357744	71357791	CAGE_peak_1_at_MPHOSPH10_5end
chr2	71360337	71360352	CAGE_peak_6_at_MPHOSPH10_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I070246	70246601	70249920	2.07	[{'connected_gene': 'TIA1', 'score': 560.65}, {'connected_gene': 'C2orf42', 'score': 560.53}, {'connected_gene': 'TRG-CCC2-1', 'score': 550.77}, {'connected_gene': 'PCBP1-AS1', 'score': 23.12}, {'connected_gene': 'GMCL1', 'score': 21.23}, {'connected_gene': 'MPHOSPH10', 'score': 14.5}, {'connected_gene': 'CLEC4F', 'score': 12.59}, {'connected_gene': 'TEX261', 'score': 10.6}, {'connected_gene': 'NAGK', 'score': 10.51}, {'connected_gene': 'ANKRD53', 'score': 10.09}, {'connected_gene': 'FAM136A', 'score': 5.88}, {'connected_gene': 'GC02M070219', 'score': 0.31}]
chr2	GH02I070727	70727965	70729246	0.67	[{'connected_gene': 'TIA1', 'score': 43.14}, {'connected_gene': 'ZNF638', 'score': 26.4}, {'connected_gene': 'ANKRD53', 'score': 21.08}, {'connected_gene': 'TEX261', 'score': 20.84}, {'connected_gene': 'PCBP1-AS1', 'score': 20.38}, {'connected_gene': 'MPHOSPH10', 'score': 19.25}, {'connected_gene': 'ADD2', 'score': 19.24}, {'connected_gene': 'CLEC4F', 'score': 10.77}, {'connected_gene': 'LOC105374796', 'score': 10.62}, {'connected_gene': 'GMCL1', 'score': 10.25}, {'connected_gene': 'PIR38094', 'score': 0.28}]
chr2	GH02I070139	70139132	70144599	1.55	[{'connected_gene': 'TIA1', 'score': 25.75}, {'connected_gene': 'TEX261', 'score': 22.5}, {'connected_gene': 'MPHOSPH10', 'score': 12.82}, {'connected_gene': 'ANKRD53', 'score': 12.36}, {'connected_gene': 'CLEC4F', 'score': 12.29}, {'connected_gene': 'PCBP1-AS1', 'score': 11.46}, {'connected_gene': 'FAM136A', 'score': 11.26}, {'connected_gene': 'ASPRV1', 'score': 11.0}, {'connected_gene': 'CD207', 'score': 10.41}, {'connected_gene': 'PCYOX1', 'score': 9.86}, {'connected_gene': 'LINC01816', 'score': 0.37}, {'connected_gene': 'GC02P070210', 'score': 0.2}, {'connected_gene': 'GC02P069822', 'score': 0.06}]
chr2	GH02I071062	71062686	71074523	2.52	[{'connected_gene': 'NAGK', 'score': 592.89}, {'connected_gene': 'ENSG00000272735', 'score': 550.77}, {'connected_gene': 'TIA1', 'score': 24.99}, {'connected_gene': 'ZNF638', 'score': 16.61}, {'connected_gene': 'MPHOSPH10', 'score': 11.25}, {'connected_gene': 'OR7E62P', 'score': 10.02}, {'connected_gene': 'GC02P071073', 'score': 0.77}, {'connected_gene': 'ENSG00000236469', 'score': 0.77}]
chr2	GH02I070189	70189725	70191902	2.11	[{'connected_gene': 'C2orf42', 'score': 561.5}, {'connected_gene': 'TIA1', 'score': 24.78}, {'connected_gene': 'PCBP1-AS1', 'score': 12.67}, {'connected_gene': 'GMCL1', 'score': 11.76}, {'connected_gene': 'PCYOX1', 'score': 11.66}, {'connected_gene': 'MPHOSPH10', 'score': 11.07}, {'connected_gene': 'ASPRV1', 'score': 10.64}, {'connected_gene': 'NAGK', 'score': 10.51}, {'connected_gene': 'FAM136A', 'score': 10.27}, {'connected_gene': 'GC02P070210', 'score': 0.37}, {'connected_gene': 'LINC01816', 'score': 0.2}, {'connected_gene': 'GC02P069822', 'score': 0.05}]
chr2	GH02I071226	71226067	71228000	1.97	[{'connected_gene': 'PAIP2B', 'score': 558.91}, {'connected_gene': 'TEX261', 'score': 24.13}, {'connected_gene': 'ANKRD53', 'score': 21.38}, {'connected_gene': 'MPHOSPH10', 'score': 20.7}, {'connected_gene': 'TIA1', 'score': 14.89}, {'connected_gene': 'ZNF638', 'score': 6.15}, {'connected_gene': 'ENSG00000233870', 'score': 0.25}]
chr2	GH02I070766	70766527	70768318	1.89	[{'connected_gene': 'ADD2', 'score': 555.98}, {'connected_gene': 'TIA1', 'score': 14.89}, {'connected_gene': 'MPHOSPH10', 'score': 11.1}, {'connected_gene': 'FIGLA', 'score': 6.05}, {'connected_gene': 'PIR38094', 'score': 0.18}]
chr2	GH02I071833	71833564	71834787	0.69	[{'connected_gene': 'TEX261', 'score': 21.61}, {'connected_gene': 'MPHOSPH10', 'score': 11.07}, {'connected_gene': 'GC02P071827', 'score': 0.44}, {'connected_gene': 'RPS20P10', 'score': 0.1}]
chr2	GH02I071128	71128525	71132884	2.3	[{'connected_gene': 'MPHOSPH10', 'score': 567.27}, {'connected_gene': 'MCEE', 'score': 559.03}, {'connected_gene': 'TEX261', 'score': 25.04}, {'connected_gene': 'TIA1', 'score': 24.01}, {'connected_gene': 'ZNF638', 'score': 16.64}, {'connected_gene': 'NAGK', 'score': 12.98}, {'connected_gene': 'ANKRD53', 'score': 10.72}, {'connected_gene': 'CLEC4F', 'score': 10.67}, {'connected_gene': 'LOC101060051', 'score': 0.31}]
chr2	GH02I071617	71617991	71620396	0.71	[{'connected_gene': 'MPHOSPH10', 'score': 20.32}, {'connected_gene': 'CLEC4F', 'score': 11.44}, {'connected_gene': 'TEX261', 'score': 10.68}, {'connected_gene': 'ZNF638', 'score': 10.62}, {'connected_gene': 'GC02P071578', 'score': 0.26}, {'connected_gene': 'DYSF', 'score': 0.1}, {'connected_gene': 'GC02P071827', 'score': 0.08}]
chr2	GH02I070686	70686449	70687953	1.17	[{'connected_gene': 'ENSG00000235035', 'score': 550.77}, {'connected_gene': 'MPHOSPH10', 'score': 5.23}, {'connected_gene': 'ADD2', 'score': 4.4}, {'connected_gene': 'PIR38094', 'score': 0.77}]