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
ENST00000449223	[[8386041, 8386453], [8386539, 8386975], [8387155, 8387830]]	None
ENST00000602140	[[8386378, 8386453], [8386539, 8387376]]	None
ENST00000600659	[[8386383, 8386453], [8386539, 8386587], [8386836, 8386975], [8387155, 8388224]]	[[8386414, 8386453], [8386539, 8386587], [8386836, 8386959]]
ENST00000417088	[[8386517, 8386587], [8386836, 8386975], [8387155, 8387280]]	None
NM_001031	[[8386383, 8386453], [8386539, 8386587], [8386836, 8386975], [8387155, 8387280]]	[[8386414, 8386453], [8386539, 8386587], [8386836, 8386959]]

Promoter

Chrom	Start	End	Description
chr19	8386339	8386351	CAGE_peak_2_at_RPS28_5end
chr19	8386371	8386384	CAGE_peak_1_at_RPS28_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I008314	8314358	8317726	0.54	[{'connected_gene': 'RPS28', 'score': 47.89}, {'connected_gene': 'CD320', 'score': 13.44}, {'connected_gene': 'ENSG00000167774', 'score': 0.44}, {'connected_gene': 'NDUFA7', 'score': 0.44}]
chr19	GH19I008311	8311780	8312268	0.56	[{'connected_gene': 'RPS28', 'score': 16.99}, {'connected_gene': 'CD320', 'score': 11.9}, {'connected_gene': 'ENSG00000167774', 'score': 0.44}, {'connected_gene': 'NDUFA7', 'score': 0.44}]
chr19	GH19I008294	8294001	8294600	0.2	[{'connected_gene': 'RPS28', 'score': 9.07}, {'connected_gene': 'GC19M008288', 'score': 0.77}, {'connected_gene': 'CD320', 'score': 0.39}]
chr19	GH19I008319	8319654	8323257	2.07	[{'connected_gene': 'RPS28', 'score': 694.49}, {'connected_gene': 'GC19P008321', 'score': 550.77}, {'connected_gene': 'ENSG00000167774', 'score': 550.77}, {'connected_gene': 'NDUFA7', 'score': 550.77}, {'connected_gene': 'HNRNPM', 'score': 59.51}, {'connected_gene': 'XAB2', 'score': 55.38}, {'connected_gene': 'ZNF317', 'score': 45.67}, {'connected_gene': 'ZNF699', 'score': 44.75}, {'connected_gene': 'ZNF558', 'score': 41.82}, {'connected_gene': 'MAP2K7', 'score': 30.86}, {'connected_gene': 'ELAVL1', 'score': 23.71}, {'connected_gene': 'ZNF414', 'score': 23.22}, {'connected_gene': 'CD320', 'score': 13.4}, {'connected_gene': 'STXBP2', 'score': 9.72}, {'connected_gene': 'KANK3', 'score': 0.34}]
chr19	GH19I008334	8334947	8335806	1.22	[{'connected_gene': 'RPS28', 'score': 17.77}, {'connected_gene': 'KANK3', 'score': 0.44}, {'connected_gene': 'PIR52170', 'score': 0.39}]
chr19	GH19I008333	8333784	8333866	0.31	[{'connected_gene': 'RPS28', 'score': 29.77}, {'connected_gene': 'KANK3', 'score': 0.44}, {'connected_gene': 'PIR52170', 'score': 0.44}]
chr19	GH19I008306	8306161	8309444	2.06	[{'connected_gene': 'CD320', 'score': 563.78}, {'connected_gene': 'RPS28', 'score': 33.26}, {'connected_gene': 'ZNF558', 'score': 14.93}, {'connected_gene': 'ELAVL1', 'score': 14.53}, {'connected_gene': 'HNRNPM', 'score': 13.65}, {'connected_gene': 'XAB2', 'score': 12.55}, {'connected_gene': 'MAP2K7', 'score': 10.23}, {'connected_gene': 'ENSG00000269300', 'score': 10.23}, {'connected_gene': 'ZNF317', 'score': 9.84}, {'connected_gene': 'ENSG00000167774', 'score': 0.39}, {'connected_gene': 'NDUFA7', 'score': 0.39}, {'connected_gene': 'GC19M008288', 'score': 0.37}]
chr19	GH19I008421	8421675	8422686	0.79	[{'connected_gene': 'MARCH2', 'score': 8.51}, {'connected_gene': 'RPS28', 'score': 5.1}, {'connected_gene': 'PIR43177', 'score': 0.77}, {'connected_gene': 'GC19P008426', 'score': 0.77}]
chr19	GH19I008524	8524940	8527338	1.73	[{'connected_gene': 'HNRNPM', 'score': 61.65}, {'connected_gene': 'ELAVL1', 'score': 56.28}, {'connected_gene': 'ZNF558', 'score': 55.35}, {'connected_gene': 'ZNF699', 'score': 54.83}, {'connected_gene': 'ZNF317', 'score': 45.14}, {'connected_gene': 'ZNF266', 'score': 44.62}, {'connected_gene': 'ZNF559', 'score': 35.9}, {'connected_gene': 'XAB2', 'score': 33.73}, {'connected_gene': 'ZNF414', 'score': 29.41}, {'connected_gene': 'ENSG00000269300', 'score': 23.74}, {'connected_gene': 'MYO1F', 'score': 20.4}, {'connected_gene': 'MAP2K7', 'score': 20.29}, {'connected_gene': 'LOC100128428', 'score': 11.79}, {'connected_gene': 'ADAMTS10', 'score': 11.59}, {'connected_gene': 'RPS28', 'score': 4.91}, {'connected_gene': 'ENSG00000268618', 'score': 0.34}]
chr19	GH19I008354	8354785	8357867	1.41	[{'connected_gene': 'RAB11B', 'score': 12.74}, {'connected_gene': 'ZNF559', 'score': 10.92}, {'connected_gene': 'MARCH2', 'score': 6.71}, {'connected_gene': 'RPS28', 'score': 4.81}, {'connected_gene': 'LOC100129682', 'score': 0.44}, {'connected_gene': 'ANGPTL4', 'score': 0.44}]
chr19	GH19I008388	8387709	8397979	2.53	[{'connected_gene': 'RAB11B', 'score': 550.77}, {'connected_gene': 'HNRNPM', 'score': 51.53}, {'connected_gene': 'ELAVL1', 'score': 50.22}, {'connected_gene': 'ZNF699', 'score': 38.92}, {'connected_gene': 'ZNF558', 'score': 38.15}, {'connected_gene': 'XAB2', 'score': 32.85}, {'connected_gene': 'ZNF317', 'score': 23.54}, {'connected_gene': 'ENSG00000269300', 'score': 20.34}, {'connected_gene': 'MAP2K7', 'score': 19.26}, {'connected_gene': 'MARCH2', 'score': 18.5}, {'connected_gene': 'ZNF177', 'score': 13.8}, {'connected_gene': 'ZNF559', 'score': 12.93}, {'connected_gene': 'RAB11B-AS1', 'score': 12.42}, {'connected_gene': 'LOC100128428', 'score': 11.99}, {'connected_gene': 'CD209', 'score': 10.13}, {'connected_gene': 'EVI5L', 'score': 10.05}, {'connected_gene': 'ANGPTL4', 'score': 8.89}, {'connected_gene': 'RPS28', 'score': 4.85}, {'connected_gene': 'MIR4999', 'score': 0.77}, {'connected_gene': 'GC19P008401', 'score': 0.44}]
chr19	GH19I008340	8340311	8343926	2.11	[{'connected_gene': 'KANK3', 'score': 555.65}, {'connected_gene': 'RPS28', 'score': 71.67}, {'connected_gene': 'ELAVL1', 'score': 37.84}, {'connected_gene': 'HNRNPM', 'score': 33.99}, {'connected_gene': 'ZNF558', 'score': 24.9}, {'connected_gene': 'XAB2', 'score': 22.68}, {'connected_gene': 'ZNF699', 'score': 21.53}, {'connected_gene': 'ENSG00000269300', 'score': 10.24}, {'connected_gene': 'MAP2K7', 'score': 10.23}, {'connected_gene': 'ZNF317', 'score': 9.84}, {'connected_gene': 'CD320', 'score': 8.4}, {'connected_gene': 'PIR52170', 'score': 0.37}]
chr19	GH19I007678	7678884	7682506	2.32	[{'connected_gene': 'TRAPPC5', 'score': 550.77}, {'connected_gene': 'HNRNPM', 'score': 54.97}, {'connected_gene': 'ELAVL1', 'score': 52.75}, {'connected_gene': 'XAB2', 'score': 33.6}, {'connected_gene': 'ZNF557', 'score': 25.43}, {'connected_gene': 'MAP2K7', 'score': 22.86}, {'connected_gene': 'STXBP2', 'score': 14.4}, {'connected_gene': 'ZNF414', 'score': 9.71}, {'connected_gene': 'MCEMP1', 'score': 9.68}, {'connected_gene': 'PEX11G', 'score': 7.66}, {'connected_gene': 'MCOLN1', 'score': 6.79}, {'connected_gene': 'ARHGEF18', 'score': 6.51}, {'connected_gene': 'PNPLA6', 'score': 6.15}, {'connected_gene': 'RPS28', 'score': 4.53}, {'connected_gene': 'RETN', 'score': 1.49}, {'connected_gene': 'EVI5L', 'score': 1.46}, {'connected_gene': 'ENSG00000269711', 'score': 0.77}]
chr19	GH19I008348	8348000	8348200	0.69	[{'connected_gene': 'LOC100129682', 'score': 550.77}, {'connected_gene': 'RPS28', 'score': 5.55}, {'connected_gene': 'ANGPTL4', 'score': 0.37}]
chr19	GH19I008268	8268290	8270322	1.09	[{'connected_gene': 'PIR58912', 'score': 550.77}, {'connected_gene': 'GC19P008268', 'score': 550.77}, {'connected_gene': 'ZNF414', 'score': 12.01}, {'connected_gene': 'XAB2', 'score': 10.52}, {'connected_gene': 'MAP2K7', 'score': 10.4}, {'connected_gene': 'ZNF317', 'score': 9.92}, {'connected_gene': 'RPS28', 'score': 6.75}]
chr19	GH19I008323	8323917	8324636	0.69	[{'connected_gene': 'PIR52170', 'score': 550.77}, {'connected_gene': 'RPS28', 'score': 140.4}, {'connected_gene': 'XAB2', 'score': 27.62}, {'connected_gene': 'HNRNPM', 'score': 26.6}, {'connected_gene': 'ZNF699', 'score': 25.94}, {'connected_gene': 'ZNF317', 'score': 23.39}, {'connected_gene': 'ZNF558', 'score': 22.27}, {'connected_gene': 'MAP2K7', 'score': 21.6}, {'connected_gene': 'ZNF559', 'score': 18.03}, {'connected_gene': 'ZNF414', 'score': 13.8}, {'connected_gene': 'ELAVL1', 'score': 11.11}, {'connected_gene': 'GC19P008321', 'score': 0.77}, {'connected_gene': 'KANK3', 'score': 0.37}]
chr19	GH19I008324	8324837	8324986	0.68	[{'connected_gene': 'PIR52170', 'score': 550.77}, {'connected_gene': 'ZNF317', 'score': 31.63}, {'connected_gene': 'HNRNPM', 'score': 28.7}, {'connected_gene': 'XAB2', 'score': 28.55}, {'connected_gene': 'ZNF558', 'score': 28.32}, {'connected_gene': 'ZNF699', 'score': 26.12}, {'connected_gene': 'MAP2K7', 'score': 22.69}, {'connected_gene': 'ZNF414', 'score': 22.25}, {'connected_gene': 'ZNF559', 'score': 21.63}, {'connected_gene': 'RPS28', 'score': 18.44}, {'connected_gene': 'ELAVL1', 'score': 10.62}, {'connected_gene': 'KANK3', 'score': 0.37}]