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
ENST00000475851	[[65283499, 65283658], [65298587, 65298978]]	None
ENST00000377990	[[65283505, 65283662], [65296532, 65296935], [65298587, 65300114], [65301415, 65301538], [65305001, 65305098], [65309669, 65309843], [65310772, 65314138]]	[[65296578, 65296935], [65298587, 65300114], [65301415, 65301538], [65305001, 65305098], [65309669, 65309839]]
ENST00000546106	[[65283549, 65283662], [65296532, 65296935], [65298587, 65300114], [65301415, 65301538], [65309669, 65309811]]	[[65296578, 65296935], [65298587, 65300114], [65301415, 65301538], [65309669, 65309675]]
ENST00000537589	[[65283585, 65283658], [65298587, 65301312], [65301415, 65302385]]	[[65299394, 65300279]]
ENST00000260569	[[65283598, 65283662], [65296532, 65296935], [65298587, 65299703], [65301415, 65301538], [65305001, 65305098], [65309669, 65309843], [65310772, 65314138]]	[[65296578, 65296935], [65298587, 65299703], [65301415, 65301538], [65305001, 65305098], [65309669, 65309839]]
ENST00000497039	[[65297862, 65299703], [65300017, 65300114], [65301069, 65301283], [65301415, 65301618]]	None
NM_001319100	[[65283494, 65283658], [65296532, 65296935], [65298587, 65300114], [65301415, 65301538], [65305001, 65305098], [65309669, 65309843], [65310772, 65314142]]	[[65296578, 65296935], [65298587, 65300114], [65301415, 65301538], [65305001, 65305098], [65309669, 65309839]]
NM_001319101	[[65283494, 65283662], [65296532, 65296935], [65298587, 65299703], [65301415, 65301538], [65305001, 65305098], [65309669, 65309843], [65310772, 65314142]]	[[65296578, 65296935], [65298587, 65299703], [65301415, 65301538], [65305001, 65305098], [65309669, 65309839]]
NR_134966	[[65283494, 65283662], [65296532, 65296935], [65298587, 65300114], [65301415, 65301538], [65309669, 65309843], [65310772, 65314142]]	None
NM_015147	[[65283494, 65283662], [65296532, 65296935], [65298587, 65300114], [65301415, 65301538], [65305001, 65305098], [65309669, 65309843], [65310772, 65314142]]	[[65296578, 65296935], [65298587, 65300114], [65301415, 65301538], [65305001, 65305098], [65309669, 65309839]]

Promoter

Chrom	Start	End	Description
chr2	65283517	65283527	CAGE_peak_2_at_CEP68_5end
chr2	65283529	65283591	CAGE_peak_1_at_CEP68_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I064747	64747416	64753052	1.93	[{'connected_gene': 'SERTAD2', 'score': 550.77}, {'connected_gene': 'VPS54', 'score': 12.15}, {'connected_gene': 'CEP68', 'score': 1.88}, {'connected_gene': 'GC02P064667', 'score': 0.18}]
chr2	GH02I064806	64806325	64808647	1.17	[{'connected_gene': 'SERTAD2', 'score': 11.3}, {'connected_gene': 'LINC01800', 'score': 10.85}, {'connected_gene': 'CEP68', 'score': 4.53}, {'connected_gene': 'RN7SL341P', 'score': 0.44}, {'connected_gene': 'LOC105374776', 'score': 0.37}]
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	GH02I064936	64936812	64940437	1.49	[{'connected_gene': 'SLC1A4', 'score': 18.55}, {'connected_gene': 'CEP68', 'score': 15.3}, {'connected_gene': 'RN7SL211P', 'score': 12.58}, {'connected_gene': 'RNU6-548P', 'score': 11.38}, {'connected_gene': 'LINC02576', 'score': 10.98}, {'connected_gene': 'LINC02245', 'score': 0.44}, {'connected_gene': 'RPL11P1', 'score': 0.34}]
chr2	GH02I065021	65021887	65021996	0.92	[{'connected_gene': 'SLC1A4', 'score': 12.56}, {'connected_gene': 'RNU6-548P', 'score': 12.04}, {'connected_gene': 'RN7SL211P', 'score': 11.92}, {'connected_gene': 'CEP68', 'score': 11.29}, {'connected_gene': 'AFTPH', 'score': 10.29}, {'connected_gene': 'LINC02576', 'score': 0.44}, {'connected_gene': 'GC02P065000', 'score': 0.34}]
chr2	GH02I065033	65033307	65033516	0.56	[{'connected_gene': 'SLC1A4', 'score': 12.04}, {'connected_gene': 'RN7SL211P', 'score': 11.95}, {'connected_gene': 'CEP68', 'score': 11.92}, {'connected_gene': 'RNU6-548P', 'score': 11.7}, {'connected_gene': 'LINC02576', 'score': 0.77}, {'connected_gene': 'LOC105374778', 'score': 0.34}]
chr2	GH02I064943	64943505	64944489	1.28	[{'connected_gene': 'SLC1A4', 'score': 17.86}, {'connected_gene': 'RN7SL211P', 'score': 12.87}, {'connected_gene': 'RNU6-548P', 'score': 11.63}, {'connected_gene': 'LINC02576', 'score': 11.19}, {'connected_gene': 'CEP68', 'score': 10.62}, {'connected_gene': 'LINC02245', 'score': 0.39}, {'connected_gene': 'RPL11P1', '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	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	GH02I065023	65023818	65025112	1	[{'connected_gene': 'CEP68', 'score': 16.88}, {'connected_gene': 'SLC1A4', 'score': 12.54}, {'connected_gene': 'RNU6-548P', 'score': 12.04}, {'connected_gene': 'RN7SL211P', 'score': 11.91}, {'connected_gene': 'LINC02576', 'score': 0.44}, {'connected_gene': 'GC02P065000', 'score': 0.34}]
chr2	GH02I065025	65025800	65026400	0.77	[{'connected_gene': 'CEP68', 'score': 18.71}, {'connected_gene': 'SLC1A4', 'score': 12.05}, {'connected_gene': 'RN7SL211P', 'score': 11.95}, {'connected_gene': 'RNU6-548P', 'score': 11.71}, {'connected_gene': 'LINC02576', 'score': 0.77}, {'connected_gene': 'GC02P065000', 'score': 0.31}]
chr2	GH02I065027	65027488	65028689	0.94	[{'connected_gene': 'CEP68', 'score': 23.88}, {'connected_gene': 'SLC1A4', 'score': 12.05}, {'connected_gene': 'RN7SL211P', 'score': 11.95}, {'connected_gene': 'RNU6-548P', 'score': 11.71}, {'connected_gene': 'LINC02576', 'score': 0.77}, {'connected_gene': 'GC02P065000', 'score': 0.31}]
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	GH02I065016	65016801	65019946	0.88	[{'connected_gene': 'CEP68', 'score': 22.52}, {'connected_gene': 'RNU6-548P', 'score': 12.85}, {'connected_gene': 'SLC1A4', 'score': 12.25}, {'connected_gene': 'RN7SL211P', 'score': 11.7}, {'connected_gene': 'SERTAD2', 'score': 9.96}, {'connected_gene': 'LINC02576', 'score': 0.39}, {'connected_gene': 'GC02P065000', 'score': 0.37}]
chr2	GH02I065052	65052522	65054106	0.97	[{'connected_gene': 'CEP68', 'score': 34.5}, {'connected_gene': 'RNU6-548P', 'score': 10.97}, {'connected_gene': 'LOC105374778', 'score': 0.77}, {'connected_gene': 'LINC02576', 'score': 0.34}]
chr2	GH02I065566	65566010	65568114	0.98	[{'connected_gene': 'CEP68', 'score': 10.23}, {'connected_gene': 'VTRNA2-2P', 'score': 0.39}, {'connected_gene': 'ENSG00000281920', 'score': 0.22}, {'connected_gene': 'LOC105369166', 'score': 0.16}, {'connected_gene': 'LOC101927533', 'score': 0.12}]
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	GH02I065048	65048953	65049803	0.76	[{'connected_gene': 'CEP68', 'score': 33.76}, {'connected_gene': 'ACTR2', 'score': 4.23}, {'connected_gene': 'LOC105374778', 'score': 0.44}, {'connected_gene': 'LINC02576', 'score': 0.37}]
chr2	GH02I065164	65164201	65166048	0.58	[{'connected_gene': 'CEP68', 'score': 6.05}, {'connected_gene': 'GC02P065168', 'score': 0.77}, {'connected_gene': 'ENSG00000272025', 'score': 0.44}]
chr2	GH02I065040	65040401	65041066	1.15	[{'connected_gene': 'RN7SL211P', 'score': 11.72}, {'connected_gene': 'RNU6-548P', 'score': 11.22}, {'connected_gene': 'CEP68', 'score': 7.88}, {'connected_gene': 'LINC02576', 'score': 0.39}, {'connected_gene': 'LOC105374778', 'score': 0.37}]
chr2	GH02I065042	65042783	65043616	0.2	[{'connected_gene': 'RN7SL211P', 'score': 11.72}, {'connected_gene': 'RNU6-548P', 'score': 11.22}, {'connected_gene': 'CEP68', 'score': 8.49}, {'connected_gene': 'LINC02576', 'score': 0.39}, {'connected_gene': 'LOC105374778', 'score': 0.39}]
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	GH02I065055	65054201	65054400	0.2	[{'connected_gene': 'LOC105374778', 'score': 550.77}, {'connected_gene': 'CEP68', 'score': 17.94}, {'connected_gene': 'LINC02576', 'score': 0.34}]
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	GH02I065030	65030667	65033054	1.06	[{'connected_gene': 'LINC02576', 'score': 555.79}, {'connected_gene': 'CEP68', 'score': 19.37}, {'connected_gene': 'SLC1A4', 'score': 12.04}, {'connected_gene': 'RN7SL211P', 'score': 11.95}, {'connected_gene': 'RNU6-548P', 'score': 11.7}, {'connected_gene': 'LOC105374778', 'score': 0.34}]
chr2	GH02I065176	65176668	65179023	0.38	[{'connected_gene': 'ACTR2', 'score': 5.77}, {'connected_gene': 'CEP68', 'score': 5.36}, {'connected_gene': 'GC02M065182', 'score': 0.44}, {'connected_gene': 'GC02P065168', 'score': 0.44}]
chr2	GH02I065159	65159509	65160400	0.58	[{'connected_gene': 'GC02P065159', 'score': 550.77}, {'connected_gene': 'ENSG00000272025', 'score': 550.77}, {'connected_gene': 'CEP68', 'score': 5.41}, {'connected_gene': 'GC02P065168', 'score': 0.44}]
chr2	GH02I064998	64998423	64999200	0.58	[{'connected_gene': 'GC02P065000', 'score': 550.77}, {'connected_gene': 'RN7SL211P', 'score': 11.39}, {'connected_gene': 'LINC02576', 'score': 10.96}, {'connected_gene': 'CEP68', 'score': 10.26}, {'connected_gene': 'SLC1A4', 'score': 8.51}, {'connected_gene': 'RNU6-548P', 'score': 0.77}]