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
ENST00000222330	[[42734337, 42735019], [42736208, 42736301], [42736647, 42736834], [42737261, 42737357], [42737437, 42737535], [42738504, 42738611], [42738699, 42738830], [42740757, 42740868], [42741009, 42741093], [42744106, 42744294], [42746334, 42746745]]	[[42734945, 42735019], [42736208, 42736301], [42736647, 42736834], [42737261, 42737357], [42737437, 42737535], [42738504, 42738611], [42738699, 42738830], [42740757, 42740868], [42741009, 42741093], [42744106, 42744294], [42746334, 42746617]]
ENST00000398249	[[42734341, 42735019], [42736208, 42736301], [42736647, 42736834], [42737261, 42737357], [42737437, 42737535], [42738504, 42738611], [42738699, 42738830], [42740757, 42740868], [42741009, 42741093], [42744106, 42746045]]	[[42734945, 42735019], [42736208, 42736301], [42736647, 42736834], [42737261, 42737357], [42737437, 42737535], [42738504, 42738611], [42738699, 42738830], [42740757, 42740868], [42741009, 42741093], [42744106, 42744331]]
ENST00000453535	[[42734373, 42734543], [42734830, 42735019], [42736208, 42736301], [42736647, 42736834], [42737261, 42737357], [42737437, 42737535], [42738504, 42738611], [42738699, 42738830], [42740757, 42740868], [42741009, 42741093], [42744106, 42744294], [42746334, 42746777]]	[[42734945, 42735019], [42736208, 42736301], [42736647, 42736834], [42737261, 42737357], [42737437, 42737535], [42738504, 42738611], [42738699, 42738830], [42740757, 42740868], [42741009, 42741093], [42744106, 42744294], [42746334, 42746617]]
ENST00000493059	[[42734693, 42735019], [42736208, 42736301], [42736647, 42736989]]	None
NM_019884	[[42734337, 42735019], [42736208, 42736301], [42736647, 42736834], [42737261, 42737357], [42737437, 42737535], [42738504, 42738611], [42738699, 42738830], [42740757, 42740868], [42741009, 42741093], [42744106, 42744294], [42746334, 42746736]]	[[42734945, 42735019], [42736208, 42736301], [42736647, 42736834], [42737261, 42737357], [42737437, 42737535], [42738504, 42738611], [42738699, 42738830], [42740757, 42740868], [42741009, 42741093], [42744106, 42744294], [42746334, 42746617]]

Promoter

Chrom	Start	End	Description
chr19	42736799	42736815	CAGE_peak_6_at_GSK3A_5end
chr19	42746701	42746704	CAGE_peak_5_at_GSK3A_5end
chr19	42746714	42746796	CAGE_peak_1_at_GSK3A_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I042360	42360909	42361118	0.49	[{'connected_gene': 'CNFN', 'score': 12.18}, {'connected_gene': 'MEGF8', 'score': 11.84}, {'connected_gene': 'LIPE-AS1', 'score': 11.04}, {'connected_gene': 'LIPE', 'score': 10.97}, {'connected_gene': 'GSK3A', 'score': 10.11}, {'connected_gene': 'MIR8077', 'score': 0.44}, {'connected_gene': 'GC19P042378', 'score': 0.37}, {'connected_gene': 'PIR47672', 'score': 0.37}]
chr19	GH19I042196	42196389	42205218	1.37	[{'connected_gene': 'ZNF574', 'score': 27.58}, {'connected_gene': 'CCDC97', 'score': 26.25}, {'connected_gene': 'ZNF526', 'score': 19.58}, {'connected_gene': 'MEGF8', 'score': 15.52}, {'connected_gene': 'HNRNPUL1', 'score': 15.29}, {'connected_gene': 'GRIK5', 'score': 12.91}, {'connected_gene': 'GSK3A', 'score': 11.5}, {'connected_gene': 'LOC100505622', 'score': 11.29}, {'connected_gene': 'CIC', 'score': 11.28}, {'connected_gene': 'PAFAH1B3', 'score': 11.22}, {'connected_gene': 'PRR19', 'score': 11.22}, {'connected_gene': 'CNFN', 'score': 9.81}, {'connected_gene': 'POU2F2', 'score': 0.77}, {'connected_gene': 'DEDD2', 'score': 0.37}]
chr19	GH19I042120	42120313	42124348	1.19	[{'connected_gene': 'POU2F2', 'score': 11.41}, {'connected_gene': 'GSK3A', 'score': 11.22}, {'connected_gene': 'ZNF526', 'score': 11.02}, {'connected_gene': 'DEDD2', 'score': 11.02}, {'connected_gene': 'MEGF8', 'score': 10.93}, {'connected_gene': 'LOC100505622', 'score': 0.39}, {'connected_gene': 'PIR55136', 'score': 0.26}]
chr19	GH19I042118	42118049	42119445	0.2	[{'connected_gene': 'POU2F2', 'score': 11.4}, {'connected_gene': 'GSK3A', 'score': 11.22}, {'connected_gene': 'ZNF526', 'score': 11.02}, {'connected_gene': 'DEDD2', 'score': 11.02}, {'connected_gene': 'MEGF8', 'score': 10.92}, {'connected_gene': 'LOC100505622', 'score': 0.39}, {'connected_gene': 'PIR55136', 'score': 0.28}]
chr19	GH19I042110	42110307	42117436	1.31	[{'connected_gene': 'POU2F2', 'score': 11.51}, {'connected_gene': 'CIC', 'score': 11.24}, {'connected_gene': 'GSK3A', 'score': 11.22}, {'connected_gene': 'PAFAH1B3', 'score': 11.22}, {'connected_gene': 'PRR19', 'score': 11.22}, {'connected_gene': 'MEGF8', 'score': 11.02}, {'connected_gene': 'ZNF526', 'score': 11.01}, {'connected_gene': 'DEDD2', 'score': 11.01}, {'connected_gene': 'ATP1A3', 'score': 10.4}, {'connected_gene': 'CNFN', 'score': 9.9}, {'connected_gene': 'LOC100505622', 'score': 0.37}, {'connected_gene': 'PIR55136', 'score': 0.29}]
chr19	GH19I042241	42241395	42248079	2.32	[{'connected_gene': 'GSK3A', 'score': 550.77}, {'connected_gene': 'ENSG00000279539', 'score': 550.77}, {'connected_gene': 'ZNF526', 'score': 45.52}, {'connected_gene': 'HNRNPUL1', 'score': 40.67}, {'connected_gene': 'CCDC97', 'score': 35.97}, {'connected_gene': 'RPS19', 'score': 19.77}, {'connected_gene': 'GRIK5', 'score': 5.33}, {'connected_gene': 'EXOSC5', 'score': 5.13}, {'connected_gene': 'MEGF8', 'score': 4.98}, {'connected_gene': 'ENSG00000268643', 'score': 0.39}, {'connected_gene': 'ERF', 'score': 0.39}]
chr19	GH19I042205	42205945	42208888	1.56	[{'connected_gene': 'GRIK5', 'score': 12.9}, {'connected_gene': 'LOC100505622', 'score': 10.91}, {'connected_gene': 'GSK3A', 'score': 10.88}, {'connected_gene': 'DEDD2', 'score': 7.84}, {'connected_gene': 'ARHGEF1', 'score': 3.84}, {'connected_gene': 'CEACAM8', 'score': 2.07}, {'connected_gene': 'POU2F2', 'score': 2.03}, {'connected_gene': 'CEACAM3', 'score': 1.63}]
chr19	GH19I042276	42276359	42287467	2.66	[{'connected_gene': 'CIC', 'score': 551.48}, {'connected_gene': 'ZNF526', 'score': 80.03}, {'connected_gene': 'ZNF574', 'score': 64.49}, {'connected_gene': 'CCDC97', 'score': 38.66}, {'connected_gene': 'MEGF8', 'score': 24.43}, {'connected_gene': 'GRIK5', 'score': 11.55}, {'connected_gene': 'DEDD2', 'score': 9.34}, {'connected_gene': 'CEACAM8', 'score': 5.59}, {'connected_gene': 'PAFAH1B3', 'score': 5.07}, {'connected_gene': 'TMEM145', 'score': 4.31}, {'connected_gene': 'CEACAM3', 'score': 2.88}, {'connected_gene': 'PRR19', 'score': 2.58}, {'connected_gene': 'GSK3A', 'score': 2.44}, {'connected_gene': 'ARHGEF1', 'score': 1.72}, {'connected_gene': 'ATP1A3', 'score': 1.14}, {'connected_gene': 'PIR39982', 'score': 0.77}, {'connected_gene': 'GC19P042280', 'score': 0.77}, {'connected_gene': 'PIR40414', 'score': 0.77}, {'connected_gene': 'PIR46989', 'score': 0.44}]
chr19	GH19I042267	42267435	42274340	2.68	[{'connected_gene': 'CIC', 'score': 553.37}, {'connected_gene': 'PIR59110', 'score': 550.77}, {'connected_gene': 'ZNF526', 'score': 79.36}, {'connected_gene': 'ZNF574', 'score': 64.73}, {'connected_gene': 'CCDC97', 'score': 44.16}, {'connected_gene': 'DEDD2', 'score': 19.36}, {'connected_gene': 'MEGF8', 'score': 18.02}, {'connected_gene': 'CEACAM3', 'score': 15.92}, {'connected_gene': 'PRR19', 'score': 13.07}, {'connected_gene': 'PAFAH1B3', 'score': 13.07}, {'connected_gene': 'GSK3A', 'score': 12.84}, {'connected_gene': 'TMEM145', 'score': 10.12}, {'connected_gene': 'DMRTC2', 'score': 9.9}, {'connected_gene': 'LOC732229', 'score': 9.72}, {'connected_gene': 'LYPD4', 'score': 8.77}, {'connected_gene': 'LIPE', 'score': 6.93}, {'connected_gene': 'ARHGEF1', 'score': 5.82}, {'connected_gene': 'CEACAM8', 'score': 3.92}, {'connected_gene': 'ERF', 'score': 3.75}, {'connected_gene': 'POU2F2', 'score': 1.91}]
chr19	GH19I042232	42232631	42234908	0.74	[{'connected_gene': 'ERF', 'score': 12.13}, {'connected_gene': 'POU2F2', 'score': 11.23}, {'connected_gene': 'GC19P042230', 'score': 0.77}, {'connected_gene': 'GSK3A', 'score': 0.44}, {'connected_gene': 'ENSG00000268643', 'score': 0.34}]
chr19	GH19I042365	42365289	42365438	0.52	[{'connected_gene': 'MEGF8', 'score': 16.45}, {'connected_gene': 'CNFN', 'score': 12.21}, {'connected_gene': 'LIPE-AS1', 'score': 11.06}, {'connected_gene': 'LIPE', 'score': 10.97}, {'connected_gene': 'GSK3A', 'score': 10.11}, {'connected_gene': 'MIR8077', 'score': 0.39}, {'connected_gene': 'GC19P042378', 'score': 0.39}, {'connected_gene': 'PIR47672', 'score': 0.39}]
chr19	GH19I042363	42363249	42364439	0.82	[{'connected_gene': 'MEGF8', 'score': 17.04}, {'connected_gene': 'CNFN', 'score': 12.18}, {'connected_gene': 'LIPE-AS1', 'score': 11.06}, {'connected_gene': 'LIPE', 'score': 10.97}, {'connected_gene': 'GSK3A', 'score': 10.11}, {'connected_gene': 'MIR8077', 'score': 0.39}, {'connected_gene': 'GC19P042378', 'score': 0.39}, {'connected_gene': 'PIR47672', 'score': 0.39}]
chr19	GH19I042215	42215791	42221439	2.31	[{'connected_gene': 'ZNF526', 'score': 561.57}, {'connected_gene': 'DEDD2', 'score': 550.77}, {'connected_gene': 'ZNF574', 'score': 33.84}, {'connected_gene': 'GSK3A', 'score': 12.68}, {'connected_gene': 'POU2F2', 'score': 12.08}, {'connected_gene': 'CIC', 'score': 10.82}]
chr19	GH19I042108	42108447	42108985	1.09	[{'connected_gene': 'ZNF526', 'score': 17.26}, {'connected_gene': 'HNRNPUL1', 'score': 14.21}, {'connected_gene': 'CCDC97', 'score': 12.43}, {'connected_gene': 'LOC100505622', 'score': 12.34}, {'connected_gene': 'POU2F2', 'score': 12.16}, {'connected_gene': 'MEGF8', 'score': 11.08}, {'connected_gene': 'CIC', 'score': 10.87}, {'connected_gene': 'PAFAH1B3', 'score': 10.85}, {'connected_gene': 'PRR19', 'score': 10.85}, {'connected_gene': 'GSK3A', 'score': 10.76}, {'connected_gene': 'RPS19', 'score': 10.52}, {'connected_gene': 'CNFN', 'score': 10.23}, {'connected_gene': 'PIR55136', 'score': 0.31}]
chr19	GH19I042102	42102622	42102992	0.39	[{'connected_gene': 'LOC100505622', 'score': 11.83}, {'connected_gene': 'POU2F2', 'score': 11.68}, {'connected_gene': 'GSK3A', 'score': 10.73}, {'connected_gene': 'PIR55136', 'score': 0.34}]
chr19	GH19I042099	42099329	42099478	0.2	[{'connected_gene': 'LOC100505622', 'score': 11.82}, {'connected_gene': 'POU2F2', 'score': 11.68}, {'connected_gene': 'GSK3A', 'score': 10.73}, {'connected_gene': 'PIR55136', 'score': 0.37}]
chr19	GH19I042095	42095321	42096769	0.82	[{'connected_gene': 'LOC100505622', 'score': 11.8}, {'connected_gene': 'POU2F2', 'score': 11.67}, {'connected_gene': 'GSK3A', 'score': 10.73}, {'connected_gene': 'PIR55136', 'score': 0.37}]
chr19	GH19I042228	42228667	42231391	1.08	[{'connected_gene': 'GC19P042230', 'score': 550.77}, {'connected_gene': 'ERF', 'score': 12.0}, {'connected_gene': 'POU2F2', 'score': 11.4}, {'connected_gene': 'GRIK5', 'score': 11.07}, {'connected_gene': 'ZNF526', 'score': 0.44}, {'connected_gene': 'GSK3A', 'score': 0.39}]
chr19	GH19I042249	42249333	42257232	2.5	[{'connected_gene': 'ENSG00000268643', 'score': 550.77}, {'connected_gene': 'ERF', 'score': 550.77}, {'connected_gene': 'ZNF526', 'score': 13.05}, {'connected_gene': 'HNRNPUL1', 'score': 12.79}, {'connected_gene': 'POU2F2', 'score': 10.91}, {'connected_gene': 'MEGF8', 'score': 5.26}, {'connected_gene': 'GRIK5', 'score': 4.51}, {'connected_gene': 'TMEM145', 'score': 2.5}, {'connected_gene': 'PAFAH1B3', 'score': 2.4}, {'connected_gene': 'PRR19', 'score': 2.36}, {'connected_gene': 'GSK3A', 'score': 2.35}, {'connected_gene': 'ATP1A3', 'score': 1.63}, {'connected_gene': 'ENSG00000279539', 'score': 0.39}]