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
ENST00000533854	[[64831234, 64831368], [64873347, 64873646], [64875089, 64875176], [64876673, 64876814], [64880632, 64880778], [64881099, 64881603]]	[[64873450, 64873646], [64875089, 64875176], [64876673, 64876814], [64880632, 64880778], [64881099, 64881357]]
ENST00000169565	[[64873450, 64873646], [64875089, 64875176], [64876673, 64876814], [64880632, 64881099]]	[[64873450, 64873646], [64875089, 64875176], [64876673, 64876814], [64880632, 64881099]]
ENST00000307139	[[64873450, 64873646], [64875089, 64875176], [64876673, 64876814], [64880632, 64880778], [64881099, 64881357]]	[[64873450, 64873646], [64875089, 64875176], [64876673, 64876814], [64880632, 64880778], [64881099, 64881357]]
NM_145811	[[64873390, 64873646], [64875089, 64875176], [64876673, 64876814], [64880632, 64880778], [64881099, 64881395]]	[[64873450, 64873646], [64875089, 64875176], [64876673, 64876814], [64880632, 64880778], [64881099, 64881357]]

Promoter

Chrom	Start	End	Description
chr17	64831228	64831243	CAGE_peak_1_at_CACNG5_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I066747	66747183	66748194	0.43	[{'connected_gene': 'MIR634', 'score': 11.38}, {'connected_gene': 'CACNG5', 'score': 10.86}, {'connected_gene': 'PIR44901', 'score': 0.37}, {'connected_gene': 'GC17P066788', 'score': 0.28}, {'connected_gene': 'PRKCA', 'score': 0.05}]
chr17	GH17I066943	66943415	66945184	0.92	[{'connected_gene': 'CACNG4', 'score': 22.28}, {'connected_gene': 'CACNG5', 'score': 10.8}, {'connected_gene': 'MIR634', 'score': 10.31}, {'connected_gene': 'GC17P066938', 'score': 0.44}]
chr17	GH17I066776	66776508	66779620	0.68	[{'connected_gene': 'CACNG4', 'score': 10.93}, {'connected_gene': 'CACNG5', 'score': 10.82}, {'connected_gene': 'GC17P066788', 'score': 0.44}, {'connected_gene': 'PIR44901', 'score': 0.25}, {'connected_gene': 'PRKCA', 'score': 0.04}]
chr17	GH17I066949	66949473	66954945	1.63	[{'connected_gene': 'CACNG4', 'score': 22.71}, {'connected_gene': 'NOL11', 'score': 15.08}, {'connected_gene': 'HELZ', 'score': 14.41}, {'connected_gene': 'CACNG5', 'score': 10.79}, {'connected_gene': 'GC17P066938', 'score': 0.39}]
chr17	GH17I066800	66800158	66800436	0.34	[{'connected_gene': 'CACNG5', 'score': 11.3}, {'connected_gene': 'PIR49208', 'score': 0.44}, {'connected_gene': 'MIR634', 'score': 0.39}, {'connected_gene': 'PRKCA', 'score': 0.04}]
chr17	GH17I066915	66915224	66915373	0.69	[{'connected_gene': 'CACNG5', 'score': 10.4}, {'connected_gene': 'MIR634', 'score': 10.27}, {'connected_gene': 'RNA5SP446', 'score': 0.37}, {'connected_gene': 'GC17P066938', 'score': 0.34}]
chr17	GH17I066877	66877248	66877307	0.61	[{'connected_gene': 'CACNG5', 'score': 560.93}, {'connected_gene': 'MIR634', 'score': 11.07}, {'connected_gene': 'RNA5SP446', 'score': 0.37}]
chr17	GH17I066737	66737163	66738622	0.46	[{'connected_gene': 'CACNG5', 'score': 9.98}, {'connected_gene': 'PIR44901', 'score': 0.44}, {'connected_gene': 'GC17P066788', 'score': 0.25}, {'connected_gene': 'PRKCA', 'score': 0.05}]
chr17	GH17I066730	66730007	66731243	0.62	[{'connected_gene': 'CACNG5', 'score': 10.53}, {'connected_gene': 'PIR44901', 'score': 0.77}, {'connected_gene': 'GC17P066788', 'score': 0.22}, {'connected_gene': 'PRKCA', 'score': 0.04}]
chr17	GH17I066723	66723931	66725543	0.84	[{'connected_gene': 'CACNG5', 'score': 10.55}, {'connected_gene': 'PIR44901', 'score': 0.77}, {'connected_gene': 'ENSG00000229330', 'score': 0.25}, {'connected_gene': 'PRKCA', 'score': 0.05}]
chr17	GH17I066904	66904619	66905996	0.82	[{'connected_gene': 'CACNG5', 'score': 10.82}, {'connected_gene': 'APOH', 'score': 4.91}, {'connected_gene': 'PRKCA', 'score': 4.16}, {'connected_gene': 'RNA5SP446', 'score': 0.44}, {'connected_gene': 'GC17P066938', 'score': 0.29}]
chr17	GH17I066957	66957519	66958757	1.04	[{'connected_gene': 'CACNG5', 'score': 10.36}, {'connected_gene': 'CACNG4', 'score': 5.6}, {'connected_gene': 'GC17P066938', 'score': 0.37}]
chr17	GH17I066906	66906601	66906933	1.05	[{'connected_gene': 'CACNG5', 'score': 10.46}, {'connected_gene': 'RNA5SP446', 'score': 0.39}, {'connected_gene': 'GC17P066938', 'score': 0.29}]
chr17	GH17I066831	66829623	66829812	0.73	[{'connected_gene': 'CACNG5', 'score': 0.44}, {'connected_gene': 'GC17M066819', 'score': 0.44}]
chr17	GH17I066830	66829403	66829552	0.7	[{'connected_gene': 'CACNG5', 'score': 0.44}, {'connected_gene': 'GC17M066819', 'score': 0.44}]
chr17	GH17I066829	66829983	66830132	0.59	[{'connected_gene': 'CACNG5', 'score': 0.44}, {'connected_gene': 'GC17M066819', 'score': 0.44}]
chr17	GH17I066775	66775340	66776136	0.43	[{'connected_gene': 'NOL11', 'score': 15.08}, {'connected_gene': 'HELZ', 'score': 14.39}, {'connected_gene': 'CACNG5', 'score': 10.83}, {'connected_gene': 'GC17P066788', 'score': 0.39}, {'connected_gene': 'PIR44901', 'score': 0.25}, {'connected_gene': 'PRKCA', 'score': 0.04}]
chr17	GH17I066728	66728023	66728212	0.57	[{'connected_gene': 'PIR44901', 'score': 550.77}, {'connected_gene': 'CACNG5', 'score': 10.53}, {'connected_gene': 'GC17P066788', 'score': 0.22}, {'connected_gene': 'PRKCA', 'score': 0.04}]