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

Promoter

Chrom	Start	End	Description
chr14	39583493	39583542	CAGE_peak_1_at_GEMIN2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr14	GH14I039140	39140197	39140346	0.31	[{'connected_gene': 'GEMIN2', 'score': 12.33}, {'connected_gene': 'SEC23A', 'score': 12.31}, {'connected_gene': 'CTAGE5', 'score': 4.45}, {'connected_gene': 'GC14P039155', 'score': 0.39}, {'connected_gene': 'LOC105370459', 'score': 0.31}]
chr14	GH14I038403	38403055	38406718	0.74	[{'connected_gene': 'SSTR1', 'score': 10.07}, {'connected_gene': 'GEMIN2', 'score': 5.24}, {'connected_gene': 'GC14M038447', 'score': 0.26}, {'connected_gene': 'GC14P038355', 'score': 0.25}]
chr14	GH14I039173	39173782	39177106	2.1	[{'connected_gene': 'PNN', 'score': 579.67}, {'connected_gene': 'ENSG00000259083', 'score': 571.63}, {'connected_gene': 'RPL7AP2', 'score': 22.09}, {'connected_gene': 'GEMIN2', 'score': 11.15}, {'connected_gene': 'SEC23A', 'score': 11.14}, {'connected_gene': 'FBXO33', 'score': 10.29}, {'connected_gene': 'CTAGE5', 'score': 5.79}, {'connected_gene': 'TRAPPC6B', 'score': 5.47}, {'connected_gene': 'GC14P039155', 'score': 0.34}]
chr14	GH14I039380	39380890	39382229	0.31	[{'connected_gene': 'CTAGE5', 'score': 24.65}, {'connected_gene': 'FBXO33', 'score': 11.07}, {'connected_gene': 'GEMIN2', 'score': 10.61}, {'connected_gene': 'SEC23A', 'score': 10.61}, {'connected_gene': 'MIA2', 'score': 10.59}, {'connected_gene': 'COILP1', 'score': 0.44}, {'connected_gene': 'ENSG00000271424', 'score': 0.39}]
chr14	GH14I039376	39376201	39378108	0.84	[{'connected_gene': 'CTAGE5', 'score': 21.58}, {'connected_gene': 'FBXO33', 'score': 11.35}, {'connected_gene': 'MIA2', 'score': 10.95}, {'connected_gene': 'GEMIN2', 'score': 10.62}, {'connected_gene': 'SEC23A', 'score': 10.61}, {'connected_gene': 'COILP1', 'score': 0.44}, {'connected_gene': 'ENSG00000271424', 'score': 0.44}]
chr14	GH14I039383	39383385	39383446	0.49	[{'connected_gene': 'FBXO33', 'score': 11.08}, {'connected_gene': 'GEMIN2', 'score': 10.61}, {'connected_gene': 'SEC23A', 'score': 10.61}, {'connected_gene': 'MIA2', 'score': 10.59}, {'connected_gene': 'CTAGE5', 'score': 10.59}, {'connected_gene': 'COILP1', 'score': 0.77}, {'connected_gene': 'ENSG00000271424', 'score': 0.39}]
chr14	GH14I039113	39113365	39115386	2.01	[{'connected_gene': 'LOC105370459', 'score': 550.77}, {'connected_gene': 'GEMIN2', 'score': 550.77}, {'connected_gene': 'PNN', 'score': 6.75}, {'connected_gene': 'CTAGE5', 'score': 5.68}, {'connected_gene': 'SEC23A', 'score': 5.66}, {'connected_gene': 'TRAPPC6B', 'score': 4.56}]
chr14	GH14I039145	39145077	39146030	0.95	[{'connected_gene': 'SEC23A', 'score': 16.86}, {'connected_gene': 'GEMIN2', 'score': 12.31}, {'connected_gene': 'CTAGE5', 'score': 5.24}, {'connected_gene': 'TRAPPC6B', 'score': 5.04}, {'connected_gene': 'GC14P039155', 'score': 0.44}, {'connected_gene': 'LOC105370459', 'score': 0.29}]
chr14	GH14I039061	39061048	39061586	0.62	[{'connected_gene': 'SEC23A', 'score': 11.32}, {'connected_gene': 'GEMIN2', 'score': 11.3}, {'connected_gene': 'ENSG00000259121', 'score': 0.31}, {'connected_gene': 'GC14P039030', 'score': 0.29}, {'connected_gene': 'GC14M038906', 'score': 0.26}]
chr14	GH14I039060	39060857	39061006	0.57	[{'connected_gene': 'SEC23A', 'score': 11.32}, {'connected_gene': 'GEMIN2', 'score': 11.3}, {'connected_gene': 'ENSG00000259121', 'score': 0.31}, {'connected_gene': 'GC14P039030', 'score': 0.29}, {'connected_gene': 'GC14M038906', 'score': 0.25}]
chr14	GH14I039110	39110257	39110406	0.59	[{'connected_gene': 'SEC23A', 'score': 550.77}, {'connected_gene': 'GC14P039109', 'score': 550.77}, {'connected_gene': 'LOC105370459', 'score': 0.77}, {'connected_gene': 'GEMIN2', 'score': 0.77}]
chr14	GH14I039111	39110497	39110628	0.52	[{'connected_gene': 'SEC23A', 'score': 550.77}, {'connected_gene': 'LOC105370459', 'score': 0.77}, {'connected_gene': 'GEMIN2', 'score': 0.77}]
chr14	GH14I039090	39090349	39090636	0.46	[{'connected_gene': 'ENSG00000259121', 'score': 550.77}, {'connected_gene': 'GEMIN2', 'score': 12.78}, {'connected_gene': 'FBXO33', 'score': 10.3}, {'connected_gene': 'CTAGE5', 'score': 5.67}, {'connected_gene': 'SEC23A', 'score': 0.37}, {'connected_gene': 'GC14M038906', 'score': 0.37}, {'connected_gene': 'GC14P039030', 'score': 0.22}]
chr14	GH14I038188	38188948	38192720	0.63	[{'connected_gene': 'ENSG00000258649', 'score': 550.77}, {'connected_gene': 'SSTR1', 'score': 6.77}, {'connected_gene': 'GEMIN2', 'score': 3.82}, {'connected_gene': 'ENSG00000259048', 'score': 0.77}, {'connected_gene': 'LOC105370456', 'score': 0.1}]

Transcript ID	Transcript exon region	Coding exon region
ENST00000308317	[[39583426, 39583679], [39584032, 39584117], [39587202, 39587292], [39587743, 39587803], [39591633, 39591747], [39594195, 39594240], [39597483, 39597552], [39601161, 39601272], [39602864, 39602923], [39605643, 39606177]]	[[39583509, 39583679], [39584032, 39584117], [39587202, 39587292], [39587743, 39587803], [39591633, 39591747], [39594195, 39594240], [39597483, 39597552], [39601161, 39601272], [39602864, 39602923], [39605643, 39605683]]
ENST00000525153	[[39583488, 39583679], [39584032, 39584117], [39587202, 39587292], [39587743, 39587803], [39591110, 39591228], [39591633, 39591747], [39594195, 39594240], [39597483, 39597552], [39601161, 39601272], [39602864, 39602923], [39605643, 39606177]]	[[39583509, 39583679], [39584032, 39584117], [39587202, 39587292], [39587743, 39587803], [39591110, 39591155]]
ENST00000396249	[[39583509, 39583679], [39584032, 39584117], [39587202, 39587292], [39587743, 39587803], [39591633, 39591747], [39594195, 39594240], [39597483, 39597552], [39601161, 39601272], [39605643, 39605700]]	[[39583509, 39583679], [39584032, 39584117], [39587202, 39587292], [39587743, 39587803], [39591633, 39591747], [39594195, 39594240], [39597483, 39597552], [39601161, 39601272], [39605643, 39605652]]
ENST00000412033	[[39583509, 39583599], [39584032, 39584117], [39587202, 39587292], [39587743, 39587803], [39591633, 39591747], [39594195, 39594240], [39597483, 39597552], [39601161, 39601272], [39602864, 39602923], [39605643, 39605745]]	[[39583509, 39583599], [39584032, 39584077]]
ENST00000250379	[[39583509, 39583679], [39584032, 39584117], [39587202, 39587292], [39587743, 39587803], [39591633, 39591747], [39597483, 39597552], [39601161, 39601272], [39602864, 39602923], [39605643, 39605979]]	[[39583509, 39583679], [39584032, 39584117], [39587202, 39587292], [39587743, 39587803], [39591633, 39591747], [39597483, 39597552], [39601161, 39601272], [39602864, 39602923], [39605643, 39605683]]
ENST00000531684	[[39583523, 39583624], [39584032, 39584117], [39587202, 39587292], [39587743, 39587803], [39591633, 39591747], [39594195, 39594240], [39597483, 39597552], [39601161, 39601227]]	[[39583523, 39583624], [39584032, 39584067]]
ENST00000534684	[[39583526, 39583679], [39584032, 39584117], [39587202, 39587292], [39587743, 39587803], [39591633, 39591747], [39594195, 39594240], [39601161, 39601272]]	[[39583526, 39583679], [39584032, 39584117], [39587202, 39587292], [39587743, 39587803], [39591633, 39591747], [39594195, 39594240], [39601161, 39601272]]
ENST00000525430	[[39583527, 39583679], [39584032, 39584117], [39587202, 39587292], [39587743, 39587803], [39591633, 39591905]]	None
ENST00000527381	[[39583534, 39583670], [39584032, 39584117], [39587202, 39587292], [39587743, 39587803], [39591633, 39591747], [39594195, 39594240], [39597483, 39597545]]	[[39583534, 39583670], [39584032, 39584117], [39587202, 39587292], [39587743, 39587803], [39591633, 39591747], [39594195, 39594240], [39597483, 39597545]]
ENST00000524980	[[39600976, 39601272], [39602864, 39602923], [39605643, 39605950]]	None
ENST00000529365	[[39600990, 39601272], [39602864, 39603165]]	None
ENST00000524781	[[39602864, 39602963], [39603024, 39603574]]	[[39602864, 39602933]]
NM_001009182	[[39583487, 39583679], [39584032, 39584117], [39587202, 39587292], [39587743, 39587803], [39591633, 39591747], [39597483, 39597552], [39601161, 39601272], [39602864, 39602923], [39605643, 39606177]]	[[39583509, 39583679], [39584032, 39584117], [39587202, 39587292], [39587743, 39587803], [39591633, 39591747], [39597483, 39597552], [39601161, 39601272], [39602864, 39602923], [39605643, 39605683]]
NM_001009183	[[39583487, 39583679], [39584032, 39584117], [39587202, 39587292], [39587743, 39587803], [39591633, 39591747], [39594195, 39594240], [39597483, 39597552], [39601161, 39601272], [39605643, 39606177]]	[[39583509, 39583679], [39584032, 39584117], [39587202, 39587292], [39587743, 39587803], [39591633, 39591747], [39594195, 39594240], [39597483, 39597552], [39601161, 39601272], [39605643, 39605652]]
NM_003616	[[39583487, 39583679], [39584032, 39584117], [39587202, 39587292], [39587743, 39587803], [39591633, 39591747], [39594195, 39594240], [39597483, 39597552], [39601161, 39601272], [39602864, 39602923], [39605643, 39606177]]	[[39583509, 39583679], [39584032, 39584117], [39587202, 39587292], [39587743, 39587803], [39591633, 39591747], [39594195, 39594240], [39597483, 39597552], [39601161, 39601272], [39602864, 39602923], [39605643, 39605683]]