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
ENST00000225726	[[61822609, 61824321], [61829299, 61829467], [61829679, 61829789], [61830100, 61830159], [61831792, 61831878], [61833599, 61833710], [61833828, 61833930], [61838273, 61838339], [61838589, 61838711], [61841375, 61841550], [61842099, 61842207], [61843271, 61843554], [61850771, 61851135]]	[[61824240, 61824321], [61829299, 61829467], [61829679, 61829789], [61830100, 61830159], [61831792, 61831878], [61833599, 61833710], [61833828, 61833930], [61838273, 61838339], [61838589, 61838711], [61841375, 61841550], [61842099, 61842207], [61843271, 61843535]]
ENST00000403162	[[61823762, 61824321], [61829299, 61829467], [61829679, 61829789], [61830100, 61830159], [61831792, 61831878], [61833599, 61833710], [61833828, 61833930], [61838273, 61838339], [61838589, 61838711], [61841375, 61841550], [61842099, 61842207], [61843271, 61843554], [61850136, 61850223], [61850771, 61850930]]	[[61824240, 61824321], [61829299, 61829467], [61829679, 61829789], [61830100, 61830159], [61831792, 61831878], [61833599, 61833710], [61833828, 61833930], [61838273, 61838339], [61838589, 61838711], [61841375, 61841550], [61842099, 61842207], [61843271, 61843535]]
ENST00000582252	[[61829129, 61829467], [61829679, 61829789], [61830100, 61830159], [61831792, 61831878], [61833599, 61833710], [61833828, 61833930], [61838273, 61838339], [61838589, 61838711], [61841375, 61841550], [61842099, 61842207], [61843271, 61843554], [61850771, 61850930]]	[[61829227, 61829467], [61829679, 61829789], [61830100, 61830159], [61831792, 61831878], [61833599, 61833710], [61833828, 61833930], [61838273, 61838339], [61838589, 61838711], [61841375, 61841550], [61842099, 61842207], [61843271, 61843535]]
ENST00000582331	[[61830139, 61830159], [61831792, 61831878], [61833599, 61833710], [61833828, 61833930], [61838273, 61838339], [61838589, 61838897]]	None
ENST00000584112	[[61843119, 61843554], [61850771, 61850924]]	None
ENST00000580986	[[61843478, 61843554], [61851971, 61852136], [61853400, 61853711]]	[[61843478, 61843535]]
NM_020198	[[61822609, 61824321], [61829299, 61829467], [61829679, 61829789], [61830100, 61830159], [61831792, 61831878], [61833599, 61833710], [61833828, 61833930], [61838273, 61838339], [61838589, 61838711], [61841375, 61841550], [61842099, 61842207], [61843271, 61843554], [61850771, 61851088]]	[[61824240, 61824321], [61829299, 61829467], [61829679, 61829789], [61830100, 61830159], [61831792, 61831878], [61833599, 61833710], [61833828, 61833930], [61838273, 61838339], [61838589, 61838711], [61841375, 61841550], [61842099, 61842207], [61843271, 61843535]]

Promoter

Chrom	Start	End	Description
chr17	61843358	61843374	CAGE_peak_4_at_CCDC47_5end
chr17	61850867	61850882	CAGE_peak_2_at_CCDC47_5end
chr17	61850894	61850986	CAGE_peak_1_at_CCDC47_5end
chr17	61851413	61851431	CAGE_peak_5_at_CCDC47_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I063760	63760970	63762485	0.92	[{'connected_gene': 'PSMC5', 'score': 11.34}, {'connected_gene': 'FTSJ3', 'score': 11.34}, {'connected_gene': 'LIMD2', 'score': 11.18}, {'connected_gene': 'SMARCD2', 'score': 10.93}, {'connected_gene': 'DDX42', 'score': 10.13}, {'connected_gene': 'GC17P063754', 'score': 0.44}, {'connected_gene': 'CCDC47', 'score': 0.39}]
chr17	GH17I063757	63757425	63758122	0.31	[{'connected_gene': 'FTSJ3', 'score': 78.07}, {'connected_gene': 'SMARCD2', 'score': 28.51}, {'connected_gene': 'DDX5', 'score': 17.03}, {'connected_gene': 'POLG2', 'score': 14.4}, {'connected_gene': 'ENSG00000281311', 'score': 14.11}, {'connected_gene': 'DDX42', 'score': 13.6}, {'connected_gene': 'CEP95', 'score': 13.1}, {'connected_gene': 'ERN1', 'score': 11.37}, {'connected_gene': 'LIMD2', 'score': 11.18}, {'connected_gene': 'GC17P063754', 'score': 0.77}, {'connected_gene': 'CCDC47', 'score': 0.37}]
chr17	GH17I063780	63780211	63781385	0.97	[{'connected_gene': 'FTSJ3', 'score': 31.86}, {'connected_gene': 'ENSG00000265982', 'score': 24.9}, {'connected_gene': 'SMARCD2', 'score': 17.8}, {'connected_gene': 'DDX5', 'score': 17.03}, {'connected_gene': 'POLG2', 'score': 14.4}, {'connected_gene': 'ENSG00000281311', 'score': 14.11}, {'connected_gene': 'DDX42', 'score': 13.67}, {'connected_gene': 'CEP95', 'score': 13.1}, {'connected_gene': 'ERN1', 'score': 11.37}, {'connected_gene': 'CCDC47', 'score': 0.77}, {'connected_gene': 'PIR56411', 'score': 0.44}]
chr17	GH17I063777	63777864	63778909	0.38	[{'connected_gene': 'FTSJ3', 'score': 63.4}, {'connected_gene': 'DDX42', 'score': 0.77}, {'connected_gene': 'CCDC47', 'score': 0.77}, {'connected_gene': 'PIR56411', 'score': 0.44}]
chr17	GH17I063771	63771425	63776790	2.34	[{'connected_gene': 'DDX42', 'score': 586.67}, {'connected_gene': 'CCDC47', 'score': 550.77}, {'connected_gene': 'GC17M063765', 'score': 550.77}, {'connected_gene': 'FTSJ3', 'score': 90.67}, {'connected_gene': 'CEP95', 'score': 45.38}, {'connected_gene': 'POLG2', 'score': 39.47}, {'connected_gene': 'SMARCD2', 'score': 30.55}, {'connected_gene': 'DDX5', 'score': 27.66}, {'connected_gene': 'ENSG00000281311', 'score': 22.56}, {'connected_gene': 'CSH2', 'score': 16.88}, {'connected_gene': 'ERN1', 'score': 11.38}]
chr17	GH17I063770	63770281	63770490	1.13	[{'connected_gene': 'DDX42', 'score': 0.77}, {'connected_gene': 'GC17M063765', 'score': 0.77}, {'connected_gene': 'CCDC47', 'score': 0.44}, {'connected_gene': 'GC17P063754', 'score': 0.37}]
chr17	GH17I063751	63751588	63752585	0.96	[{'connected_gene': 'ENSG00000125695', 'score': 550.77}, {'connected_gene': 'FTSJ3', 'score': 75.69}, {'connected_gene': 'PSMC5', 'score': 11.57}, {'connected_gene': 'STRADA', 'score': 0.39}, {'connected_gene': 'CCDC47', 'score': 0.34}]
chr17	GH17I063783	63783974	63788309	0.89	[{'connected_gene': 'PIR56411', 'score': 550.77}, {'connected_gene': 'FTSJ3', 'score': 76.13}, {'connected_gene': 'PSMC5', 'score': 12.0}, {'connected_gene': 'ENSG00000125695', 'score': 11.89}, {'connected_gene': 'STRADA', 'score': 11.85}, {'connected_gene': 'MAP3K3', 'score': 4.19}, {'connected_gene': 'CCDC47', 'score': 0.44}, {'connected_gene': 'DDX42', 'score': 0.39}]
chr17	GH17I063752	63752821	63752970	0.76	[{'connected_gene': 'GC17P063754', 'score': 550.77}, {'connected_gene': 'ENSG00000125695', 'score': 550.77}, {'connected_gene': 'FTSJ3', 'score': 36.05}, {'connected_gene': 'POLG2', 'score': 28.71}, {'connected_gene': 'CEP95', 'score': 21.67}, {'connected_gene': 'SMARCD2', 'score': 17.75}, {'connected_gene': 'DDX5', 'score': 17.03}, {'connected_gene': 'ENSG00000281311', 'score': 14.1}, {'connected_gene': 'DDX42', 'score': 13.58}, {'connected_gene': 'PSMC5', 'score': 11.58}, {'connected_gene': 'ERN1', 'score': 11.37}, {'connected_gene': 'CCDC47', 'score': 0.34}]