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
ENST00000263672	[[74660291, 74660444], [74676078, 74676162], [74676807, 74676968], [74680609, 74680744], [74687901, 74690076]]	[[74660330, 74660444], [74676078, 74676162], [74676807, 74676968], [74680609, 74680744], [74687901, 74688088]]
ENST00000530257	[[74660305, 74660444], [74676078, 74676162], [74680655, 74680744], [74687901, 74688201]]	[[74660330, 74660444], [74676078, 74676162], [74680655, 74680744], [74687901, 74688088]]
ENST00000526361	[[74660308, 74660444], [74676078, 74676162], [74680684, 74680744], [74687901, 74688393]]	[[74676145, 74676162], [74680684, 74680744], [74687901, 74688088]]
ENST00000532972	[[74660309, 74660444], [74674639, 74674732], [74676078, 74676162], [74676807, 74676968], [74680609, 74680744], [74687901, 74688132]]	[[74660330, 74660444], [74674639, 74674732], [74676078, 74676162], [74676807, 74676968], [74680609, 74680744], [74687901, 74688088]]
ENST00000527290	[[74660315, 74660444], [74676078, 74676214]]	None
ENST00000528265	[[74660322, 74660391], [74688154, 74688662]]	None
ENST00000527225	[[74660323, 74660444], [74687901, 74688101]]	None
ENST00000526883	[[74660568, 74660694], [74676078, 74676162], [74676807, 74676968], [74680609, 74680736]]	[[74660568, 74660694], [74676078, 74676162], [74676807, 74676968], [74680609, 74680736]]
NM_014752	[[74660291, 74660444], [74676078, 74676162], [74676807, 74676968], [74680609, 74680744], [74687901, 74690076]]	[[74660330, 74660444], [74676078, 74676162], [74676807, 74676968], [74680609, 74680744], [74687901, 74688088]]

Promoter

Chrom	Start	End	Description
chr11	74660278	74660334	CAGE_peak_1_at_SPCS2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr11	GH11I075022	75022327	75024421	1.05	[{'connected_gene': 'SPCS2', 'score': 11.16}, {'connected_gene': 'XRRA1', 'score': 11.16}, {'connected_gene': 'OR2AT4', 'score': 10.8}, {'connected_gene': 'SLCO2B1', 'score': 10.77}, {'connected_gene': 'ENSG00000254429', 'score': 10.6}, {'connected_gene': 'NEU3', 'score': 6.34}, {'connected_gene': 'PIR50270', 'score': 0.44}, {'connected_gene': 'PIR37723', 'score': 0.34}, {'connected_gene': 'PIRC52', 'score': 0.29}]
chr11	GH11I075327	75327294	75353678	2.83	[{'connected_gene': 'ARRB1', 'score': 561.78}, {'connected_gene': 'POLD3', 'score': 27.02}, {'connected_gene': 'GDPD5', 'score': 14.11}, {'connected_gene': 'SNORD15B', 'score': 10.76}, {'connected_gene': 'KLHL35', 'score': 10.37}, {'connected_gene': 'XRRA1', 'score': 10.15}, {'connected_gene': 'RNF169', 'score': 9.85}, {'connected_gene': 'NEU3', 'score': 6.23}, {'connected_gene': 'RPS3', 'score': 5.72}, {'connected_gene': 'ENSG00000254974', 'score': 4.77}, {'connected_gene': 'UVRAG', 'score': 3.32}, {'connected_gene': 'SPCS2', 'score': 2.35}, {'connected_gene': 'DGAT2', 'score': 1.66}, {'connected_gene': 'MIR326', 'score': 0.44}, {'connected_gene': 'PIR38786', 'score': 0.39}, {'connected_gene': 'GC11M075328', 'score': 0.39}, {'connected_gene': 'GC11M075327', 'score': 0.39}]
chr11	GH11I075174	75174303	75175799	1.35	[{'connected_gene': 'P4HA3', 'score': 12.73}, {'connected_gene': 'ENSG00000206913', 'score': 10.6}, {'connected_gene': 'POLD3', 'score': 10.51}, {'connected_gene': 'NEU3', 'score': 9.36}, {'connected_gene': 'XRRA1', 'score': 4.87}, {'connected_gene': 'SPCS2', 'score': 2.81}, {'connected_gene': 'ARRB1', 'score': 1.3}, {'connected_gene': 'RNF169', 'score': 1.27}, {'connected_gene': 'ENSG00000255395', 'score': 0.29}, {'connected_gene': 'ZDHHC20P3', 'score': 0.23}, {'connected_gene': 'SLCO2B1', 'score': 0.19}]
chr11	GH11I074956	74956729	74956894	0.55	[{'connected_gene': 'RNF169', 'score': 3.56}, {'connected_gene': 'SPCS2', 'score': 0.44}, {'connected_gene': 'RNU6-216P', 'score': 0.39}, {'connected_gene': 'GC11M074969', 'score': 0.39}]
chr11	GH11I074948	74948141	74954761	2.27	[{'connected_gene': 'XRRA1', 'score': 675.03}, {'connected_gene': 'SPCS2', 'score': 550.77}, {'connected_gene': 'POLD3', 'score': 16.13}, {'connected_gene': 'ENSG00000206913', 'score': 12.27}, {'connected_gene': 'RNF169', 'score': 11.99}, {'connected_gene': 'SNORD15B', 'score': 9.89}, {'connected_gene': 'RN7SL239P', 'score': 9.87}, {'connected_gene': 'RNU6-216P', 'score': 0.37}, {'connected_gene': 'GC11M074969', 'score': 0.37}]
chr11	GH11I074957	74957242	74958429	0.49	[{'connected_gene': 'XRRA1', 'score': 24.92}, {'connected_gene': 'SPCS2', 'score': 0.44}, {'connected_gene': 'RNU6-216P', 'score': 0.39}, {'connected_gene': 'GC11M074969', 'score': 0.39}]
chr11	GH11I075049	75049358	75050954	0.54	[{'connected_gene': 'XRRA1', 'score': 76.66}, {'connected_gene': 'SLCO2B1', 'score': 11.2}, {'connected_gene': 'SPCS2', 'score': 10.29}, {'connected_gene': 'PIR37723', 'score': 0.77}, {'connected_gene': 'OR2AT2P', 'score': 0.34}]
chr11	GH11I075193	75193437	75196561	1.06	[{'connected_gene': 'SLCO2B1', 'score': 13.76}, {'connected_gene': 'NEU3', 'score': 6.28}, {'connected_gene': 'ARRB1', 'score': 1.41}, {'connected_gene': 'SPCS2', 'score': 1.22}, {'connected_gene': 'ZDHHC20P3', 'score': 0.29}, {'connected_gene': 'ENSG00000255395', 'score': 0.23}]
chr11	GH11I075145	75145345	75148199	1.28	[{'connected_gene': 'SLCO2B1', 'score': 15.43}, {'connected_gene': 'ENSG00000255395', 'score': 10.54}, {'connected_gene': 'NEU3', 'score': 9.42}, {'connected_gene': 'TPBGL', 'score': 5.41}, {'connected_gene': 'ARRB1', 'score': 1.8}, {'connected_gene': 'SPCS2', 'score': 1.23}, {'connected_gene': 'ZDHHC20P3', 'score': 0.18}]
chr11	GH11I074988	74988152	74990119	1.98	[{'connected_gene': 'NEU3', 'score': 550.77}, {'connected_gene': 'XRRA1', 'score': 17.46}, {'connected_gene': 'POLD3', 'score': 13.08}, {'connected_gene': 'SPCS2', 'score': 11.58}, {'connected_gene': 'RPS3', 'score': 11.29}, {'connected_gene': 'RNF169', 'score': 10.24}, {'connected_gene': 'ENSG00000206913', 'score': 10.16}, {'connected_gene': 'PIRC52', 'score': 0.77}]
chr11	GH11I074459	74459744	74463846	2.31	[{'connected_gene': 'KCNE3', 'score': 573.21}, {'connected_gene': 'ENSG00000254974', 'score': 6.09}, {'connected_gene': 'RNF169', 'score': 4.75}, {'connected_gene': 'SPCS2', 'score': 2.78}, {'connected_gene': 'C2CD3', 'score': 1.76}, {'connected_gene': 'ENSG00000254928', 'score': 0.44}, {'connected_gene': 'ENSG00000254631', 'score': 0.21}]