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
ENST00000523086	[[67955313, 67955552], [67958046, 67958195], [67959919, 67960094], [67963464, 67963576], [67968753, 67968795]]	None
ENST00000357849	[[67955313, 67955552], [67958046, 67958195], [67963464, 67963576], [67968753, 67968839], [67969614, 67969680], [67970317, 67970446], [67971445, 67971680], [67974088, 67974552]]	[[67955467, 67955552], [67958046, 67958195], [67963464, 67963576], [67968753, 67968839], [67969614, 67969680], [67970317, 67970446], [67971445, 67971680], [67974088, 67974231]]
ENST00000521509	[[67955313, 67955552], [67958046, 67958195], [67963464, 67963576], [67968753, 67968839], [67969614, 67969680], [67970317, 67970446], [67971445, 67974259], [67974340, 67974571]]	None
ENST00000517736	[[67955313, 67955552], [67958046, 67958195], [67960002, 67960094], [67963464, 67963576], [67968753, 67968839], [67969614, 67969680], [67970317, 67970446], [67971445, 67971680], [67976665, 67977178]]	[[67960079, 67960094], [67963464, 67963576], [67968753, 67968839], [67969614, 67969680], [67970317, 67970446], [67971445, 67971631]]
ENST00000521386	[[67955316, 67958195], [67963464, 67963576], [67968753, 67968839], [67969614, 67969680], [67970317, 67970446], [67971445, 67973864]]	None
ENST00000518374	[[67955316, 67955552], [67958046, 67958195], [67963464, 67963576], [67968753, 67968839], [67969614, 67969680], [67970317, 67970446], [67971445, 67971680], [67972731, 67972780], [67974088, 67974259], [67974340, 67974558]]	[[67971665, 67971680], [67972731, 67972780], [67974088, 67974231]]
ENST00000523890	[[67958044, 67958195], [67963464, 67963576], [67968753, 67968839], [67969614, 67969680], [67970317, 67970446], [67971445, 67971680], [67973526, 67973657], [67974088, 67974264]]	[[67973626, 67973657], [67974088, 67974231]]
ENST00000518747	[[67968767, 67968839], [67969614, 67969680], [67970317, 67970446], [67971445, 67971680], [67976335, 67976509]]	[[67968767, 67968839], [67969614, 67969680], [67970317, 67970446], [67971445, 67971631]]
ENST00000517793	[[67970332, 67970446], [67971445, 67971680], [67976565, 67976873]]	None
ENST00000517406	[[67971650, 67971680], [67972555, 67972780], [67974088, 67974259], [67974340, 67974388]]	[[67972686, 67972780], [67974088, 67974231]]
ENST00000519963	[[67972707, 67972780], [67974088, 67974259], [67974340, 67974494], [67981334, 67981438], [67993116, 67993331], [67995921, 67995968]]	None
ENST00000519057	[[67973578, 67973657], [67974088, 67974259], [67974340, 67974494], [67981334, 67981438], [67995921, 67995979]]	None
ENST00000518768	[[67974185, 67974259], [67974340, 67974415], [67981334, 67981438], [67993116, 67993331], [67995921, 67996018]]	None
NM_006837	[[67955313, 67955552], [67958046, 67958195], [67963464, 67963576], [67968753, 67968839], [67969614, 67969680], [67970317, 67970446], [67971445, 67971680], [67974088, 67974562]]	[[67955467, 67955552], [67958046, 67958195], [67963464, 67963576], [67968753, 67968839], [67969614, 67969680], [67970317, 67970446], [67971445, 67971680], [67974088, 67974231]]

Promoter

Chrom	Start	End	Description
chr8	67974355	67974391	CAGE_peak_1_at_COPS5_5end
chr8	67995969	67995981	CAGE_peak_4_at_COPS5_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr8	GH08I067061	67060685	67060755	0.63	[{'connected_gene': 'CSPP1', 'score': 550.77}, {'connected_gene': 'PPP1R42', 'score': 0.77}, {'connected_gene': 'COPS5', 'score': 0.34}]
chr8	GH08I066678	66678600	66681159	1.04	[{'connected_gene': 'CSPP1', 'score': 9.75}, {'connected_gene': 'COPS5', 'score': 9.74}, {'connected_gene': 'C8orf44', 'score': 4.95}, {'connected_gene': 'C8orf44-SGK3', 'score': 0.39}, {'connected_gene': 'SGK3', 'score': 0.29}]
chr8	GH08I066917	66917201	66921428	1.01	[{'connected_gene': 'CSPP1', 'score': 10.23}, {'connected_gene': 'COPS5', 'score': 10.21}, {'connected_gene': 'PPP1R42', 'score': 9.82}, {'connected_gene': 'TCF24', 'score': 5.0}, {'connected_gene': 'GC08M066923', 'score': 0.77}, {'connected_gene': 'MCMDC2', 'score': 0.25}]
chr8	GH08I067060	67060794	67066168	2.31	[{'connected_gene': 'CSPP1', 'score': 550.77}, {'connected_gene': 'COPS5', 'score': 550.34}, {'connected_gene': 'ARFGEF1', 'score': 37.87}, {'connected_gene': 'C8orf44', 'score': 15.08}, {'connected_gene': 'TCF24', 'score': 5.33}]
chr8	GH08I066790	66790355	66792270	0.57	[{'connected_gene': 'PPP1R42', 'score': 9.75}, {'connected_gene': 'CSPP1', 'score': 9.75}, {'connected_gene': 'COPS5', 'score': 9.75}, {'connected_gene': 'C8orf44', 'score': 4.33}, {'connected_gene': 'GC08M066750', 'score': 0.44}, {'connected_gene': 'SGK3', 'score': 0.18}, {'connected_gene': 'MCMDC2', 'score': 0.18}, {'connected_gene': 'C8orf44-SGK3', 'score': 0.13}]
chr8	GH08I066788	66788001	66788200	0.4	[{'connected_gene': 'PPP1R42', 'score': 9.75}, {'connected_gene': 'CSPP1', 'score': 9.75}, {'connected_gene': 'COPS5', 'score': 9.75}, {'connected_gene': 'GC08M066750', 'score': 0.77}, {'connected_gene': 'SGK3', 'score': 0.18}, {'connected_gene': 'MCMDC2', 'score': 0.18}, {'connected_gene': 'C8orf44-SGK3', 'score': 0.13}]
chr8	GH08I066689	66689200	66689400	0.69	[{'connected_gene': 'PPP1R42', 'score': 10.45}, {'connected_gene': 'CSPP1', 'score': 10.45}, {'connected_gene': 'COPS5', 'score': 10.45}, {'connected_gene': 'C8orf44-SGK3', 'score': 0.34}, {'connected_gene': 'C8orf44', 'score': 0.34}, {'connected_gene': 'SGK3', 'score': 0.34}]
chr8	GH08I066690	66689006	66689175	0.69	[{'connected_gene': 'PPP1R42', 'score': 10.45}, {'connected_gene': 'CSPP1', 'score': 10.45}, {'connected_gene': 'COPS5', 'score': 10.45}, {'connected_gene': 'C8orf44-SGK3', 'score': 0.34}, {'connected_gene': 'C8orf44', 'score': 0.34}, {'connected_gene': 'SGK3', 'score': 0.34}]
chr8	GH08I066691	66689457	66690183	0.63	[{'connected_gene': 'PPP1R42', 'score': 10.45}, {'connected_gene': 'CSPP1', 'score': 10.45}, {'connected_gene': 'COPS5', 'score': 10.45}, {'connected_gene': 'C8orf44-SGK3', 'score': 0.34}, {'connected_gene': 'C8orf44', 'score': 0.34}, {'connected_gene': 'SGK3', 'score': 0.34}]
chr8	GH08I067028	67028000	67029943	1.91	[{'connected_gene': 'PPP1R42', 'score': 561.59}, {'connected_gene': 'LOC105375885', 'score': 550.77}, {'connected_gene': 'CSPP1', 'score': 11.57}, {'connected_gene': 'COPS5', 'score': 11.51}, {'connected_gene': 'SNHG6', 'score': 11.37}, {'connected_gene': 'SNORD87', 'score': 11.37}]
chr8	GH08I067054	67054450	67055711	0.89	[{'connected_gene': 'PPP1R42', 'score': 550.77}, {'connected_gene': 'TCF24', 'score': 4.78}, {'connected_gene': 'LOC105375885', 'score': 0.31}, {'connected_gene': 'COPS5', 'score': 0.31}]
chr8	GH08I066774	66774200	66776361	2.23	[{'connected_gene': 'SGK3', 'score': 550.21}, {'connected_gene': 'CSPP1', 'score': 10.03}, {'connected_gene': 'COPS5', 'score': 10.02}, {'connected_gene': 'C8orf44', 'score': 4.8}, {'connected_gene': 'PTTG3P', 'score': 0.44}, {'connected_gene': 'GC08M066750', 'score': 0.39}, {'connected_gene': 'C8orf44-SGK3', 'score': 0.14}]
chr8	GH08I067339	67339170	67340295	0.86	[{'connected_gene': 'COPS5', 'score': 9.26}, {'connected_gene': 'CSPP1', 'score': 9.25}, {'connected_gene': 'PPP1R42', 'score': 9.0}, {'connected_gene': 'ARFGEF1', 'score': 0.77}, {'connected_gene': 'LOC102724708', 'score': 0.77}, {'connected_gene': 'GC08M067260', 'score': 0.22}, {'connected_gene': 'GC08P067259', 'score': 0.18}]
chr8	GH08I067316	67316696	67317840	0.56	[{'connected_gene': 'COPS5', 'score': 9.54}, {'connected_gene': 'CSPP1', 'score': 9.54}, {'connected_gene': 'PPP1R42', 'score': 9.43}, {'connected_gene': 'ARFGEF1', 'score': 0.31}, {'connected_gene': 'LOC102724708', 'score': 0.31}, {'connected_gene': 'GC08M067260', 'score': 0.28}, {'connected_gene': 'GC08P067259', 'score': 0.22}]
chr8	GH08I067306	67306826	67308546	0.31	[{'connected_gene': 'COPS5', 'score': 9.15}, {'connected_gene': 'CSPP1', 'score': 9.14}, {'connected_gene': 'PPP1R42', 'score': 8.88}, {'connected_gene': 'GC08M067260', 'score': 0.31}, {'connected_gene': 'ARFGEF1', 'score': 0.28}, {'connected_gene': 'LOC102724708', 'score': 0.28}, {'connected_gene': 'GC08P067259', 'score': 0.25}]
chr8	GH08I067254	67254066	67254215	0.38	[{'connected_gene': 'COPS5', 'score': 10.47}, {'connected_gene': 'CSPP1', 'score': 10.46}, {'connected_gene': 'PPP1R42', 'score': 10.45}, {'connected_gene': 'GC08P067259', 'score': 0.44}, {'connected_gene': 'GC08M067189', 'score': 0.21}, {'connected_gene': 'ARFGEF1', 'score': 0.17}]
chr8	GH08I067197	67197709	67197920	0.4	[{'connected_gene': 'COPS5', 'score': 11.09}, {'connected_gene': 'CSPP1', 'score': 11.07}, {'connected_gene': 'PPP1R42', 'score': 11.07}, {'connected_gene': 'GC08M067189', 'score': 0.44}, {'connected_gene': 'GC08P067259', 'score': 0.21}, {'connected_gene': 'ARFGEF1', 'score': 0.11}]
chr8	GH08I067242	67242614	67242968	0.31	[{'connected_gene': 'COPS5', 'score': 10.29}, {'connected_gene': 'CSPP1', 'score': 10.27}, {'connected_gene': 'PPP1R42', 'score': 10.27}, {'connected_gene': 'GC08P067259', 'score': 0.37}, {'connected_gene': 'GC08M067189', 'score': 0.23}, {'connected_gene': 'ARFGEF1', 'score': 0.15}]
chr8	GH08I067255	67255706	67255855	0.79	[{'connected_gene': 'COPS5', 'score': 9.8}, {'connected_gene': 'CSPP1', 'score': 9.79}, {'connected_gene': 'PPP1R42', 'score': 9.79}, {'connected_gene': 'GC08P067259', 'score': 0.77}, {'connected_gene': 'GC08M067189', 'score': 0.21}, {'connected_gene': 'ARFGEF1', 'score': 0.17}]
chr8	GH08I067110	67110406	67110555	0.2	[{'connected_gene': 'COPS5', 'score': 10.93}, {'connected_gene': 'CSPP1', 'score': 10.86}, {'connected_gene': 'PPP1R42', 'score': 10.85}, {'connected_gene': 'RNA5SP268', 'score': 0.39}, {'connected_gene': 'ENSG00000250869', 'score': 0.31}]
chr8	GH08I067109	67109966	67110155	0.94	[{'connected_gene': 'COPS5', 'score': 10.7}, {'connected_gene': 'CSPP1', 'score': 10.63}, {'connected_gene': 'PPP1R42', 'score': 10.52}, {'connected_gene': 'RNA5SP268', 'score': 0.39}, {'connected_gene': 'ENSG00000250869', 'score': 0.31}]
chr8	GH08I067083	67083664	67085163	0.43	[{'connected_gene': 'COPS5', 'score': 550.77}, {'connected_gene': 'CSPP1', 'score': 11.94}, {'connected_gene': 'PPP1R42', 'score': 10.94}, {'connected_gene': 'RNA5SP268', 'score': 0.39}]
chr8	GH08I067172	67172946	67173095	0.52	[{'connected_gene': 'COPS5', 'score': 9.86}, {'connected_gene': 'CSPP1', 'score': 9.83}, {'connected_gene': 'PPP1R42', 'score': 9.82}, {'connected_gene': 'PIR58223', 'score': 0.44}, {'connected_gene': 'NPM1P44', 'score': 0.39}]
chr8	GH08I067184	67184793	67185163	0.22	[{'connected_gene': 'NPM1P44', 'score': 550.77}, {'connected_gene': 'COPS5', 'score': 10.19}, {'connected_gene': 'CSPP1', 'score': 10.17}, {'connected_gene': 'PPP1R42', 'score': 9.77}, {'connected_gene': 'MCMDC2', 'score': 5.96}, {'connected_gene': 'C8orf44', 'score': 5.33}, {'connected_gene': 'PIR58223', 'score': 0.37}, {'connected_gene': 'ARFGEF1', 'score': 0.1}]
chr8	GH08I066961	66961036	66963426	1.49	[{'connected_gene': 'TCF24', 'score': 555.2}, {'connected_gene': 'SNHG6', 'score': 11.63}, {'connected_gene': 'SNORD87', 'score': 11.63}, {'connected_gene': 'PPP1R42', 'score': 10.17}, {'connected_gene': 'CSPP1', 'score': 10.16}, {'connected_gene': 'COPS5', 'score': 10.14}]
chr8	GH08I066787	66787551	66787849	0.54	[{'connected_gene': 'GC08M066750', 'score': 550.77}, {'connected_gene': 'SGK3', 'score': 13.11}, {'connected_gene': 'PPP1R42', 'score': 9.75}, {'connected_gene': 'CSPP1', 'score': 9.75}, {'connected_gene': 'COPS5', 'score': 9.75}, {'connected_gene': 'ADHFE1', 'score': 4.09}, {'connected_gene': 'VCPIP1', 'score': 1.53}, {'connected_gene': 'MCMDC2', 'score': 0.18}, {'connected_gene': 'C8orf44-SGK3', 'score': 0.13}]
chr8	GH08I067192	67192897	67193073	0.22	[{'connected_gene': 'GC08M067189', 'score': 550.77}, {'connected_gene': 'COPS5', 'score': 11.1}, {'connected_gene': 'PPP1R42', 'score': 11.07}, {'connected_gene': 'CSPP1', 'score': 11.07}, {'connected_gene': 'GC08P067259', 'score': 0.2}, {'connected_gene': 'ARFGEF1', 'score': 0.1}]