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
ENST00000494188	[[65297834, 65298338], [65331867, 65331940], [65357026, 65357220]]	None
ENST00000409892	[[65313988, 65315824], [65316072, 65316204], [65331867, 65331940], [65357026, 65357239]]	[[65315626, 65315824], [65316072, 65316204], [65331867, 65331940], [65357026, 65357049]]
ENST00000409784	[[65313988, 65315824], [65316072, 65316204], [65318116, 65318212], [65325104, 65325200], [65331867, 65331940], [65357026, 65357240]]	[[65315626, 65315824], [65316072, 65316204], [65318116, 65318212], [65325104, 65325200], [65331867, 65331940], [65357026, 65357049]]
ENST00000398529	[[65315004, 65315824], [65325104, 65325200], [65331867, 65331940], [65357026, 65357235]]	[[65315626, 65315824], [65325104, 65325200], [65331867, 65331940], [65357026, 65357049]]
ENST00000409751	[[65315004, 65315824], [65316072, 65316204], [65318116, 65318212], [65331867, 65331940], [65357026, 65357238]]	[[65315626, 65315824], [65316072, 65316204], [65318116, 65318212], [65331867, 65331940], [65357026, 65357049]]
ENST00000260638	[[65315013, 65315824], [65325104, 65325200], [65331867, 65331940], [65332529, 65332537], [65333509, 65333524]]	[[65315626, 65315824], [65325104, 65325200], [65331867, 65331940], [65332529, 65332537], [65333509, 65333524]]
ENST00000356214	[[65315430, 65315824], [65316072, 65316204], [65325104, 65325200], [65331867, 65331940], [65357026, 65357238]]	[[65315626, 65315824], [65316072, 65316204], [65325104, 65325200], [65331867, 65331940], [65357026, 65357049]]
NM_004161	[[65313987, 65315824], [65316072, 65316204], [65318116, 65318212], [65325104, 65325200], [65331867, 65331940], [65357026, 65357435]]	[[65315626, 65315824], [65316072, 65316204], [65318116, 65318212], [65325104, 65325200], [65331867, 65331940], [65357026, 65357049]]
NM_015543	[[65313987, 65315824], [65325104, 65325200], [65331867, 65331940], [65357026, 65357435]]	[[65315626, 65315824], [65325104, 65325200], [65331867, 65331940], [65357026, 65357049]]

Promoter

Chrom	Start	End	Description
chr2	65357225	65357267	CAGE_peak_1_at_RAB1A_5end
chr2	65357520	65357540	CAGE_peak_2_at_RAB1A_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I064697	64697262	64701038	1.59	[{'connected_gene': 'SERTAD2', 'score': 13.42}, {'connected_gene': 'VPS54', 'score': 12.13}, {'connected_gene': 'SLC1A4', 'score': 7.8}, {'connected_gene': 'RAB1A', 'score': 6.33}, {'connected_gene': 'PELI1', 'score': 4.66}, {'connected_gene': 'AFTPH', 'score': 2.43}, {'connected_gene': 'GC02P064667', 'score': 0.29}]
chr2	GH02I064818	64818124	64821393	1.41	[{'connected_gene': 'SERTAD2', 'score': 13.28}, {'connected_gene': 'LINC01800', 'score': 6.77}, {'connected_gene': 'SLC1A4', 'score': 2.0}, {'connected_gene': 'RAB1A', 'score': 1.9}, {'connected_gene': 'AFTPH', 'score': 1.33}, {'connected_gene': 'RN7SL341P', 'score': 0.77}, {'connected_gene': 'ENSG00000199964', 'score': 0.39}, {'connected_gene': 'GC02M064835', 'score': 0.39}]
chr2	GH02I064924	64924157	64924522	0.9	[{'connected_gene': 'SLC1A4', 'score': 24.4}, {'connected_gene': 'RAB1A', 'score': 14.9}, {'connected_gene': 'LINC02576', 'score': 11.54}, {'connected_gene': 'RNU6-548P', 'score': 11.22}, {'connected_gene': 'CEP68', 'score': 10.72}, {'connected_gene': 'ACTR2', 'score': 2.65}, {'connected_gene': 'AFTPH', 'score': 2.11}, {'connected_gene': 'LINC02245', 'score': 0.44}, {'connected_gene': 'RN7SL211P', 'score': 0.37}]
chr2	GH02I064914	64914153	64919727	1.63	[{'connected_gene': 'SLC1A4', 'score': 24.64}, {'connected_gene': 'LINC02576', 'score': 11.53}, {'connected_gene': 'RAB1A', 'score': 11.45}, {'connected_gene': 'RNU6-548P', 'score': 11.21}, {'connected_gene': 'CEP68', 'score': 10.73}, {'connected_gene': 'ACTR2', 'score': 1.31}, {'connected_gene': 'RN7SL211P', 'score': 0.44}, {'connected_gene': 'LINC02245', 'score': 0.37}]
chr2	GH02I065126	65126117	65134328	2.29	[{'connected_gene': 'RAB1A', 'score': 550.77}, {'connected_gene': 'CEP68', 'score': 33.69}, {'connected_gene': 'AFTPH', 'score': 10.81}, {'connected_gene': 'LINC02576', 'score': 10.37}, {'connected_gene': 'ACTR2', 'score': 9.9}, {'connected_gene': 'SERTAD2', 'score': 9.75}, {'connected_gene': 'GC02P065109', 'score': 0.34}]
chr2	GH02I065576	65576123	65578110	1.31	[{'connected_gene': 'RAB1A', 'score': 1.2}, {'connected_gene': 'VTRNA2-2P', 'score': 0.34}, {'connected_gene': 'ENSG00000281920', 'score': 0.25}, {'connected_gene': 'LOC105369166', 'score': 0.15}, {'connected_gene': 'LOC101927533', 'score': 0.11}]
chr2	GH02I065092	65092593	65093994	0.31	[{'connected_gene': 'RAB1A', 'score': 11.75}, {'connected_gene': 'LINC02576', 'score': 11.03}, {'connected_gene': 'RNU6-548P', 'score': 10.22}, {'connected_gene': 'CEP68', 'score': 7.38}, {'connected_gene': 'PIR31976', 'score': 0.44}, {'connected_gene': 'GC02P065109', 'score': 0.37}]
chr2	GH02I065088	65088259	65088480	0.4	[{'connected_gene': 'RAB1A', 'score': 11.74}, {'connected_gene': 'LINC02576', 'score': 11.04}, {'connected_gene': 'RNU6-548P', 'score': 10.23}, {'connected_gene': 'PIR31976', 'score': 0.77}, {'connected_gene': 'GC02P065109', 'score': 0.34}]
chr2	GH02I065121	65121201	65121600	0.58	[{'connected_gene': 'RAB1A', 'score': 0.44}, {'connected_gene': 'GC02P065109', 'score': 0.39}]
chr2	GH02I065125	65125587	65125736	0.72	[{'connected_gene': 'RAB1A', 'score': 0.77}, {'connected_gene': 'GC02P065109', 'score': 0.37}]
chr2	GH02I064830	64830349	64832839	1.78	[{'connected_gene': 'VPS54', 'score': 23.26}, {'connected_gene': 'SERTAD2', 'score': 15.13}, {'connected_gene': 'RN7SL211P', 'score': 10.28}, {'connected_gene': 'LINC02576', 'score': 9.89}, {'connected_gene': 'SLC1A4', 'score': 6.39}, {'connected_gene': 'RAB1A', 'score': 5.7}, {'connected_gene': 'LINC01800', 'score': 4.72}, {'connected_gene': 'ACTR2', 'score': 2.49}, {'connected_gene': 'AFTPH', 'score': 2.3}, {'connected_gene': 'ENSG00000199964', 'score': 0.77}, {'connected_gene': 'GC02M064835', 'score': 0.77}, {'connected_gene': 'RN7SL341P', 'score': 0.39}]
chr2	GH02I064851	64851838	64855599	1.58	[{'connected_gene': 'VPS54', 'score': 23.26}, {'connected_gene': 'RAB1A', 'score': 10.65}, {'connected_gene': 'ACTR2', 'score': 7.59}, {'connected_gene': 'LINC01800', 'score': 7.14}, {'connected_gene': 'SLC1A4', 'score': 7.1}, {'connected_gene': 'AFTPH', 'score': 6.03}, {'connected_gene': 'SERTAD2', 'score': 5.68}, {'connected_gene': 'GC02P064841', 'score': 0.39}]
chr2	GH02I064928	64928218	64935478	1.51	[{'connected_gene': 'LINC02245', 'score': 550.77}, {'connected_gene': 'SLC1A4', 'score': 30.38}, {'connected_gene': 'RN7SL211P', 'score': 12.07}, {'connected_gene': 'RNU6-548P', 'score': 11.61}, {'connected_gene': 'LINC02576', 'score': 11.16}, {'connected_gene': 'RAB1A', 'score': 6.14}, {'connected_gene': 'ACTR2', 'score': 2.2}, {'connected_gene': 'AFTPH', 'score': 2.09}, {'connected_gene': 'SERTAD2', 'score': 1.56}]
chr2	GH02I065060	65060636	65066399	1.35	[{'connected_gene': 'CEP68', 'score': 30.52}, {'connected_gene': 'RAB1A', 'score': 11.79}, {'connected_gene': 'RNU6-548P', 'score': 10.06}, {'connected_gene': 'ACTR2', 'score': 9.67}, {'connected_gene': 'LOC105374779', 'score': 0.37}]
chr2	GH02I065068	65068027	65071874	1.03	[{'connected_gene': 'CEP68', 'score': 30.47}, {'connected_gene': 'RAB1A', 'score': 11.62}, {'connected_gene': 'RN7SL211P', 'score': 10.24}, {'connected_gene': 'LOC105374779', 'score': 0.39}]
chr2	GH02I065075	65075253	65077030	1.43	[{'connected_gene': 'CEP68', 'score': 24.03}, {'connected_gene': 'RAB1A', 'score': 14.96}, {'connected_gene': 'LINC02576', 'score': 11.93}, {'connected_gene': 'ACTR2', 'score': 5.69}, {'connected_gene': 'SERTAD2', 'score': 3.42}, {'connected_gene': 'SLC1A4', 'score': 1.44}, {'connected_gene': 'LOC105374779', 'score': 0.44}]
chr2	GH02I065099	65099461	65099818	0.5	[{'connected_gene': 'CEP68', 'score': 13.18}, {'connected_gene': 'RAB1A', 'score': 12.4}, {'connected_gene': 'LINC02576', 'score': 10.56}, {'connected_gene': 'GC02P065109', 'score': 0.39}, {'connected_gene': 'PIR31976', 'score': 0.37}]
chr2	GH02I065123	65123001	65123200	0.31	[{'connected_gene': 'CEP68', 'score': 11.89}, {'connected_gene': 'RAB1A', 'score': 0.44}, {'connected_gene': 'GC02P065109', 'score': 0.39}]
chr2	GH02I065054	65054866	65059989	2.47	[{'connected_gene': 'CEP68', 'score': 584.2}, {'connected_gene': 'LOC105374778', 'score': 550.77}, {'connected_gene': 'RAB1A', 'score': 11.78}, {'connected_gene': 'RNU6-548P', 'score': 10.06}, {'connected_gene': 'ACTR2', 'score': 9.64}, {'connected_gene': 'LOC105374779', 'score': 0.31}]
chr2	GH02I065111	65111854	65113392	0.46	[{'connected_gene': 'CEP68', 'score': 16.55}, {'connected_gene': 'LINC02576', 'score': 10.46}, {'connected_gene': 'GC02P065109', 'score': 0.77}, {'connected_gene': 'RAB1A', 'score': 0.37}]
chr2	GH02I065081	65081075	65082964	1.02	[{'connected_gene': 'LOC105374779', 'score': 550.77}, {'connected_gene': 'CEP68', 'score': 16.55}, {'connected_gene': 'RAB1A', 'score': 11.76}, {'connected_gene': 'LINC02576', 'score': 11.73}]
chr2	GH02I064766	64766149	64771596	1.78	[{'connected_gene': 'LOC105374777', 'score': 550.77}, {'connected_gene': 'VPS54', 'score': 18.41}, {'connected_gene': 'LINC02576', 'score': 9.15}, {'connected_gene': 'SERTAD2', 'score': 5.52}, {'connected_gene': 'SLC1A4', 'score': 3.39}, {'connected_gene': 'AFTPH', 'score': 2.09}, {'connected_gene': 'RAB1A', 'score': 1.98}, {'connected_gene': 'ACTR2', 'score': 1.5}, {'connected_gene': 'GC02P064779', 'score': 0.39}]
chr2	GH02I065077	65077305	65078076	0.31	[{'connected_gene': 'LINC02576', 'score': 11.93}, {'connected_gene': 'RAB1A', 'score': 11.15}, {'connected_gene': 'ACTR2', 'score': 10.76}, {'connected_gene': 'CEP68', 'score': 4.58}, {'connected_gene': 'LOC105374779', 'score': 0.77}]
chr2	GH02I064857	64857513	64866256	2.05	[{'connected_gene': 'LINC01800', 'score': 550.77}, {'connected_gene': 'VPS54', 'score': 26.54}, {'connected_gene': 'SERTAD2', 'score': 22.73}, {'connected_gene': 'ACTR2', 'score': 6.68}, {'connected_gene': 'AFTPH', 'score': 4.09}, {'connected_gene': 'RAB1A', 'score': 2.44}, {'connected_gene': 'SLC1A4', 'score': 2.11}, {'connected_gene': 'GC02P064841', 'score': 0.34}]
chr2	GH02I064836	64836680	64842599	1.51	[{'connected_gene': 'GC02P064841', 'score': 550.77}, {'connected_gene': 'LINC01800', 'score': 20.32}, {'connected_gene': 'SERTAD2', 'score': 12.45}, {'connected_gene': 'RN7SL211P', 'score': 11.15}, {'connected_gene': 'RNU6-548P', 'score': 10.25}, {'connected_gene': 'SLC1A4', 'score': 6.77}, {'connected_gene': 'RAB1A', 'score': 5.78}, {'connected_gene': 'ACTR2', 'score': 1.74}, {'connected_gene': 'AFTPH', 'score': 1.35}, {'connected_gene': 'ENSG00000199964', 'score': 0.44}, {'connected_gene': 'GC02M064835', 'score': 0.44}]