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
ENST00000367763	[[170501269, 170501425], [170508350, 170508708], [170511631, 170511733], [170513845, 170513986], [170521155, 170522587]]	[[170501289, 170501425], [170508350, 170508708], [170511631, 170511733], [170513845, 170513986], [170521155, 170521603]]
ENST00000367762	[[170501271, 170501425], [170508350, 170508708], [170511631, 170511733], [170513845, 170514930]]	[[170501289, 170501425], [170508350, 170508708], [170511631, 170511733], [170513845, 170513990]]
ENST00000498166	[[170501291, 170501425], [170502604, 170502792], [170505450, 170505562], [170508350, 170508708], [170511631, 170511733], [170513845, 170513986], [170521155, 170522587]]	[[170501291, 170501425], [170502604, 170502792], [170505450, 170505507]]
ENST00000465717	[[170505415, 170505562], [170508350, 170508800]]	None
ENST00000498600	[[170508202, 170508712], [170511631, 170511733], [170513845, 170513986], [170521155, 170522587]]	None
ENST00000475113	[[170513780, 170513986], [170521155, 170521417]]	None
NM_001146039	[[170501262, 170501425], [170508350, 170508708], [170511631, 170511733], [170513845, 170514930]]	[[170501289, 170501425], [170508350, 170508708], [170511631, 170511733], [170513845, 170513990]]
NM_152281	[[170501262, 170501425], [170508350, 170508708], [170511631, 170511733], [170513845, 170513986], [170521155, 170522974]]	[[170501289, 170501425], [170508350, 170508708], [170511631, 170511733], [170513845, 170513986], [170521155, 170521603]]
NR_027397	[[170501262, 170501425], [170508350, 170508712], [170511631, 170511733], [170513845, 170513986], [170521155, 170522974]]	None
NM_001320252	[[170501262, 170501425], [170502604, 170502792], [170505450, 170505562], [170508350, 170508708], [170511631, 170511733], [170513845, 170513986], [170521155, 170522974]]	[[170511677, 170511733], [170513845, 170513986], [170521155, 170521603]]

Promoter

Chrom	Start	End	Description
chr1	170501281	170501325	CAGE_peak_1_at_GORAB_5end
chr1	170501327	170501347	CAGE_peak_2_at_GORAB_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I170306	170306781	170308094	0.2	[{'connected_gene': 'GORAB', 'score': 5.02}, {'connected_gene': 'LINC01142', 'score': 0.34}, {'connected_gene': 'HAUS4P1', 'score': 0.21}]
chr1	GH01I170314	170314655	170314828	0.34	[{'connected_gene': 'GORAB', 'score': 5.46}, {'connected_gene': 'LINC01142', 'score': 0.29}, {'connected_gene': 'HAUS4P1', 'score': 0.22}]
chr1	GH01I170493	170493980	170495100	0.69	[{'connected_gene': 'GORAB', 'score': 23.31}, {'connected_gene': 'RN7SL333P', 'score': 13.52}, {'connected_gene': 'METTL18', 'score': 13.44}, {'connected_gene': 'LOC101928650', 'score': 11.97}, {'connected_gene': 'PRRC2C', 'score': 11.45}, {'connected_gene': 'GC01P170411', 'score': 0.18}]
chr1	GH01I170530	170530751	170533992	2.08	[{'connected_gene': 'GORAB', 'score': 564.18}, {'connected_gene': 'LOC101928650', 'score': 558.15}, {'connected_gene': 'C1orf112', 'score': 17.14}, {'connected_gene': 'SCYL3', 'score': 16.21}, {'connected_gene': 'PRRC2C', 'score': 16.07}, {'connected_gene': 'METTL18', 'score': 12.01}, {'connected_gene': 'RN7SL333P', 'score': 11.21}, {'connected_gene': 'ENSG00000271811', 'score': 7.03}]
chr1	GH01I170556	170556834	170557346	0.2	[{'connected_gene': 'GORAB', 'score': 20.03}, {'connected_gene': 'LOC101928650', 'score': 12.29}, {'connected_gene': 'PRRX1', 'score': 10.38}, {'connected_gene': 'ENSG00000225545', 'score': 0.29}]
chr1	GH01I170459	170459955	170462966	0.46	[{'connected_gene': 'GORAB', 'score': 10.21}, {'connected_gene': 'LOC101928650', 'score': 8.12}, {'connected_gene': 'GC01P170411', 'score': 0.23}]
chr1	GH01I170414	170414515	170416309	0.4	[{'connected_gene': 'GORAB', 'score': 10.14}, {'connected_gene': 'LOC101928650', 'score': 8.04}, {'connected_gene': 'GC01P170411', 'score': 0.77}]
chr1	GH01I169707	169707887	169712789	2.12	[{'connected_gene': 'SELL', 'score': 550.77}, {'connected_gene': 'METTL18', 'score': 40.93}, {'connected_gene': 'RN7SL333P', 'score': 27.73}, {'connected_gene': 'GORAB', 'score': 22.05}, {'connected_gene': 'SCYL3', 'score': 19.78}, {'connected_gene': 'C1orf112', 'score': 15.13}, {'connected_gene': 'GC01M169692', 'score': 0.39}]
chr1	GH01I170538	170538060	170538599	0.79	[{'connected_gene': 'PRRX1', 'score': 9.73}, {'connected_gene': 'GORAB', 'score': 5.64}, {'connected_gene': 'LOC101928650', 'score': 0.44}, {'connected_gene': 'ENSG00000225545', 'score': 0.25}]
chr1	GH01I170544	170544909	170546073	0.71	[{'connected_gene': 'PRRX1', 'score': 9.73}, {'connected_gene': 'LOC101928650', 'score': 7.3}, {'connected_gene': 'GORAB', 'score': 0.39}, {'connected_gene': 'ENSG00000225545', 'score': 0.26}]
chr1	GH01I170308	170308634	170311117	0.63	[{'connected_gene': 'LOC101928650', 'score': 6.27}, {'connected_gene': 'GORAB', 'score': 5.13}, {'connected_gene': 'LINC01142', 'score': 0.31}, {'connected_gene': 'HAUS4P1', 'score': 0.21}]
chr1	GH01I170562	170562267	170564134	0.92	[{'connected_gene': 'LOC101928650', 'score': 11.46}, {'connected_gene': 'GORAB', 'score': 11.46}, {'connected_gene': 'KIFAP3', 'score': 5.94}, {'connected_gene': 'ENSG00000225545', 'score': 0.31}]
chr1	GH01I170444	170444300	170446646	0.2	[{'connected_gene': 'LOC101928650', 'score': 18.55}, {'connected_gene': 'GORAB', 'score': 11.32}, {'connected_gene': 'KIFAP3', 'score': 6.01}, {'connected_gene': 'GC01P170411', 'score': 0.29}]
chr1	GH01I170487	170487296	170488685	0.38	[{'connected_gene': 'LOC101928650', 'score': 0.26}, {'connected_gene': 'GORAB', 'score': 0.26}, {'connected_gene': 'GC01P170411', 'score': 0.18}]
chr1	GH01I170409	170409846	170411629	0.31	[{'connected_gene': 'GC01P170411', 'score': 550.77}, {'connected_gene': 'GORAB', 'score': 10.48}, {'connected_gene': 'LOC101928650', 'score': 7.68}, {'connected_gene': 'PRRX1', 'score': 6.59}, {'connected_gene': 'HAUS4P1', 'score': 0.26}]
chr1	GH01I170585	170585829	170588066	1.02	[{'connected_gene': 'ENSG00000225545', 'score': 550.77}, {'connected_gene': 'GORAB', 'score': 13.8}, {'connected_gene': 'LOC101928650', 'score': 10.83}, {'connected_gene': 'PRRX1', 'score': 1.46}]
chr1	GH01I169941	169941255	169943938	1.11	[{'connected_gene': 'GC01P169942', 'score': 550.77}, {'connected_gene': 'METTL18', 'score': 47.88}, {'connected_gene': 'C1orf112', 'score': 24.36}, {'connected_gene': 'GORAB', 'score': 12.7}, {'connected_gene': 'SCYL3', 'score': 12.48}, {'connected_gene': 'RN7SL333P', 'score': 10.1}, {'connected_gene': 'GC01M169872', 'score': 0.25}, {'connected_gene': 'KIFAP3', 'score': 0.11}]
chr1	GH01I171511	171511573	171518278	0.59	[{'connected_gene': 'GC01P171514', 'score': 550.77}, {'connected_gene': 'PRRC2C', 'score': 35.13}, {'connected_gene': 'GORAB', 'score': 16.0}, {'connected_gene': 'DNM3OS', 'score': 10.74}, {'connected_gene': 'METTL13', 'score': 5.26}, {'connected_gene': 'MYOC', 'score': 5.05}, {'connected_gene': 'GC01P171492', 'score': 0.34}]
chr1	GH01I170273	170273555	170274709	0.52	[{'connected_gene': 'GC01M170272', 'score': 550.77}, {'connected_gene': 'KIFAP3', 'score': 10.51}, {'connected_gene': 'GORAB', 'score': 5.63}, {'connected_gene': 'LINC01142', 'score': 0.39}]