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
ENST00000305949	[[121457665, 121457828], [121458672, 121458753], [121463242, 121463316], [121463410, 121463562], [121466086, 121466145], [121467674, 121467819], [121468792, 121468910], [121471454, 121471589], [121473400, 121473495], [121475931, 121476001], [121483059, 121483177], [121500398, 121500572], [121502702, 121502810], [121509632, 121509794], [121514731, 121514849], [121518945, 121519101], [121522173, 121522269], [121528164, 121528431], [121530090, 121530340], [121530943, 121531057], [121534893, 121534959], [121535537, 121535875]]	[[121457710, 121457828], [121458672, 121458753], [121463242, 121463316], [121463410, 121463562], [121466086, 121466145], [121467674, 121467819], [121468792, 121468910], [121471454, 121471589], [121473400, 121473495], [121475931, 121476001], [121483059, 121483177], [121500398, 121500572], [121502702, 121502810], [121509632, 121509794], [121514731, 121514849], [121518945, 121519101], [121522173, 121522269], [121528164, 121528431], [121530090, 121530340], [121530943, 121531057], [121534893, 121534959], [121535537, 121535576]]
ENST00000456899	[[121457639, 121457828], [121458672, 121458753], [121463242, 121463575]]	None
ENST00000522308	[[121457661, 121457828], [121458672, 121458753], [121463242, 121463316], [121463410, 121465069]]	None
ENST00000523373	[[121457661, 121457828], [121458672, 121458753], [121463242, 121463316], [121463410, 121463562], [121466086, 121466145], [121467674, 121467819], [121468792, 121468910], [121471454, 121471589], [121473400, 121473495], [121475926, 121476001], [121483059, 121483177]]	[[121457710, 121457828], [121458672, 121458753], [121463242, 121463316], [121463410, 121463562], [121466086, 121466145], [121467674, 121467819], [121468792, 121468910], [121471454, 121471589], [121473400, 121473495], [121475926, 121475939]]
ENST00000522449	[[121471515, 121471589], [121473400, 121473495], [121475926, 121476001], [121483059, 121486190]]	None
ENST00000519188	[[121500400, 121500572], [121502702, 121502943]]	None
ENST00000519556	[[121530942, 121531057], [121534893, 121534959], [121550933, 121551099], [121554085, 121554205]]	[[121530942, 121531057], [121534893, 121534959], [121550933, 121550954]]
ENST00000519841	[[121550934, 121551103], [121553401, 121553459], [121554233, 121554373]]	None
NM_022045	[[121457637, 121457828], [121458672, 121458753], [121463242, 121463316], [121463410, 121463562], [121466086, 121466145], [121467674, 121467819], [121468792, 121468910], [121471454, 121471589], [121473400, 121473495], [121475931, 121476001], [121483059, 121483177], [121500398, 121500572], [121502702, 121502810], [121509632, 121509794], [121514731, 121514849], [121518945, 121519101], [121522173, 121522269], [121528164, 121528431], [121530090, 121530340], [121530943, 121531057], [121534893, 121534959], [121535537, 121535875]]	[[121457710, 121457828], [121458672, 121458753], [121463242, 121463316], [121463410, 121463562], [121466086, 121466145], [121467674, 121467819], [121468792, 121468910], [121471454, 121471589], [121473400, 121473495], [121475931, 121476001], [121483059, 121483177], [121500398, 121500572], [121502702, 121502810], [121509632, 121509794], [121514731, 121514849], [121518945, 121519101], [121522173, 121522269], [121528164, 121528431], [121530090, 121530340], [121530943, 121531057], [121534893, 121534959], [121535537, 121535576]]

Promoter

Chrom	Start	End	Description
chr8	121457642	121457672	CAGE_peak_1_at_MTBP_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr8	GH08I119914	119914741	119918477	1.28	[{'connected_gene': 'DSCC1', 'score': 22.76}, {'connected_gene': 'DEPTOR', 'score': 18.66}, {'connected_gene': 'ENSG00000245330', 'score': 11.27}, {'connected_gene': 'MTBP', 'score': 10.85}, {'connected_gene': 'TAF2', 'score': 7.33}, {'connected_gene': 'PIR41964', 'score': 0.37}, {'connected_gene': 'GC08M119936', 'score': 0.23}]
chr8	GH08I120263	120263062	120263625	0.2	[{'connected_gene': 'COL14A1', 'score': 4.65}, {'connected_gene': 'PIR54850', 'score': 0.11}, {'connected_gene': 'MTBP', 'score': 0.09}]
chr8	GH08I120123	120123102	120126658	1.9	[{'connected_gene': 'COL14A1', 'score': 550.2}, {'connected_gene': 'ENSG00000254343', 'score': 7.4}, {'connected_gene': 'PIR54850', 'score': 0.77}, {'connected_gene': 'MTBP', 'score': 0.05}]
chr8	GH08I120257	120257782	120259135	0.58	[{'connected_gene': 'COL14A1', 'score': 4.2}, {'connected_gene': 'PIR54850', 'score': 0.12}, {'connected_gene': 'MTBP', 'score': 0.09}]
chr8	GH08I119981	119980739	119984555	1.42	[{'connected_gene': 'DEPTOR', 'score': 25.39}, {'connected_gene': 'MTBP', 'score': 11.55}, {'connected_gene': 'COL14A1', 'score': 11.43}, {'connected_gene': 'DSCC1', 'score': 7.36}, {'connected_gene': 'ENSG00000254343', 'score': 5.64}, {'connected_gene': 'ENSG00000245330', 'score': 4.81}, {'connected_gene': 'GC08M119936', 'score': 0.39}, {'connected_gene': 'GC08P120015', 'score': 0.29}]
chr8	GH08I120932	120932261	120934410	0.87	[{'connected_gene': 'MRPL13', 'score': 10.19}, {'connected_gene': 'MTBP', 'score': 10.19}, {'connected_gene': 'SNTB1', 'score': 10.14}, {'connected_gene': 'HAS2-AS1', 'score': 6.91}, {'connected_gene': 'ENSG00000253619', 'score': 0.34}, {'connected_gene': 'GC08P120906', 'score': 0.31}, {'connected_gene': 'LOC100133147', 'score': 0.09}]
chr8	GH08I120538	120538501	120538650	0.31	[{'connected_gene': 'MRPL13', 'score': 0.16}, {'connected_gene': 'MTBP', 'score': 0.16}, {'connected_gene': 'NCAPGP1', 'score': 0.15}, {'connected_gene': 'SNTB1', 'score': 0.06}]
chr8	GH08I120597	120597476	120599013	0.52	[{'connected_gene': 'MRPL13', 'score': 10.94}, {'connected_gene': 'MTBP', 'score': 10.94}, {'connected_gene': 'NCAPGP1', 'score': 0.28}, {'connected_gene': 'SNTB1', 'score': 0.08}]
chr8	GH08I120600	120600702	120601378	0.4	[{'connected_gene': 'MRPL13', 'score': 10.94}, {'connected_gene': 'MTBP', 'score': 10.94}, {'connected_gene': 'NCAPGP1', 'score': 0.28}, {'connected_gene': 'SNTB1', 'score': 0.08}]
chr8	GH08I120601	120601761	120601910	0.2	[{'connected_gene': 'MRPL13', 'score': 10.94}, {'connected_gene': 'MTBP', 'score': 10.94}, {'connected_gene': 'NCAPGP1', 'score': 0.28}, {'connected_gene': 'SNTB1', 'score': 0.08}]
chr8	GH08I120452	120452841	120452990	0.52	[{'connected_gene': 'MRPL13', 'score': 0.44}, {'connected_gene': 'MTBP', 'score': 0.44}, {'connected_gene': 'NCAPGP1', 'score': 0.09}]
chr8	GH08I120951	120951301	120951450	0.73	[{'connected_gene': 'MRPL13', 'score': 10.65}, {'connected_gene': 'MTBP', 'score': 10.65}, {'connected_gene': 'ENSG00000253619', 'score': 0.28}, {'connected_gene': 'GC08P120906', 'score': 0.26}, {'connected_gene': 'LOC100133147', 'score': 0.1}]
chr8	GH08I120431	120431581	120431670	0.66	[{'connected_gene': 'MRPL13', 'score': 0.39}, {'connected_gene': 'MTBP', 'score': 0.39}, {'connected_gene': 'PIR54850', 'score': 0.06}]
chr8	GH08I120346	120346330	120347757	0.43	[{'connected_gene': 'MTBP', 'score': 0.15}, {'connected_gene': 'PIR54850', 'score': 0.07}, {'connected_gene': 'COL14A1', 'score': 0.06}]
chr8	GH08I120373	120373222	120373371	0.56	[{'connected_gene': 'MTBP', 'score': 0.19}, {'connected_gene': 'PIR54850', 'score': 0.07}, {'connected_gene': 'COL14A1', 'score': 0.06}]
chr8	GH08I120315	120315742	120315951	0.43	[{'connected_gene': 'MTBP', 'score': 0.13}, {'connected_gene': 'PIR54850', 'score': 0.08}, {'connected_gene': 'COL14A1', 'score': 0.07}]
chr8	GH08I120364	120364457	120366103	0.63	[{'connected_gene': 'MTBP', 'score': 7.72}, {'connected_gene': 'PIR54850', 'score': 0.07}, {'connected_gene': 'COL14A1', 'score': 0.06}]
chr8	GH08I120334	120334932	120336011	0.2	[{'connected_gene': 'MTBP', 'score': 0.14}, {'connected_gene': 'PIR54850', 'score': 0.08}, {'connected_gene': 'COL14A1', 'score': 0.06}]
chr8	GH08I120357	120357602	120357731	0.2	[{'connected_gene': 'MTBP', 'score': 0.17}, {'connected_gene': 'PIR54850', 'score': 0.07}, {'connected_gene': 'COL14A1', 'score': 0.06}]
chr8	GH08I120299	120299942	120300091	0.2	[{'connected_gene': 'MTBP', 'score': 0.11}, {'connected_gene': 'PIR54850', 'score': 0.1}, {'connected_gene': 'COL14A1', 'score': 0.07}]
chr8	GH08I120345	120345082	120345164	0.2	[{'connected_gene': 'MTBP', 'score': 0.15}, {'connected_gene': 'PIR54850', 'score': 0.07}, {'connected_gene': 'COL14A1', 'score': 0.06}]
chr8	GH08I120868	120868221	120869212	1.08	[{'connected_gene': 'MTBP', 'score': 10.87}, {'connected_gene': 'GC08P120906', 'score': 0.28}, {'connected_gene': 'SNTB1', 'score': 0.22}]
chr8	GH08I120443	120443667	120446279	2.34	[{'connected_gene': 'MTBP', 'score': 574.24}, {'connected_gene': 'MRPL13', 'score': 551.96}, {'connected_gene': 'TAF2', 'score': 41.2}, {'connected_gene': 'SNTB1', 'score': 1.27}, {'connected_gene': 'PIR54850', 'score': 0.05}]
chr8	GH08I120529	120529167	120531003	0.63	[{'connected_gene': 'MTBP', 'score': 33.5}, {'connected_gene': 'MRPL13', 'score': 10.44}, {'connected_gene': 'NCAPGP1', 'score': 0.14}]
chr8	GH08I120472	120472481	120472630	0.59	[{'connected_gene': 'MTBP', 'score': 23.14}, {'connected_gene': 'MRPL13', 'score': 0.31}, {'connected_gene': 'NCAPGP1', 'score': 0.1}]
chr8	GH08I120396	120396900	120398672	0.31	[{'connected_gene': 'MTBP', 'score': 23.3}, {'connected_gene': 'MRPL13', 'score': 0.25}, {'connected_gene': 'PIR54850', 'score': 0.06}]
chr8	GH08I120403	120403778	120405000	0.89	[{'connected_gene': 'MTBP', 'score': 12.16}, {'connected_gene': 'MRPL13', 'score': 0.26}, {'connected_gene': 'PIR54850', 'score': 0.06}]
chr8	GH08I120437	120437970	120438863	0.31	[{'connected_gene': 'MTBP', 'score': 23.27}, {'connected_gene': 'MRPL13', 'score': 0.44}, {'connected_gene': 'PIR54850', 'score': 0.06}]
chr8	GH08I119862	119862601	119863401	0.59	[{'connected_gene': 'RN7SL396P', 'score': 550.77}, {'connected_gene': 'DSCC1', 'score': 52.04}, {'connected_gene': 'TAF2', 'score': 11.26}, {'connected_gene': 'COL14A1', 'score': 10.93}, {'connected_gene': 'MRPL13', 'score': 10.01}, {'connected_gene': 'MTBP', 'score': 10.01}, {'connected_gene': 'DEPTOR', 'score': 8.45}]
chr8	GH08I120127	120127163	120128411	0.64	[{'connected_gene': 'PIR54850', 'score': 0.44}, {'connected_gene': 'COL14A1', 'score': 0.2}, {'connected_gene': 'MTBP', 'score': 0.06}]
chr8	GH08I120153	120153108	120155032	0.94	[{'connected_gene': 'ENSG00000254343', 'score': 5.37}, {'connected_gene': 'PIR54850', 'score': 0.29}, {'connected_gene': 'COL14A1', 'score': 0.16}, {'connected_gene': 'MTBP', 'score': 0.06}]
chr8	GH08I120204	120204622	120204751	0.31	[{'connected_gene': 'PIR54850', 'score': 0.18}, {'connected_gene': 'COL14A1', 'score': 0.11}, {'connected_gene': 'MTBP', 'score': 0.07}]
chr8	GH08I120165	120165062	120165211	0.2	[{'connected_gene': 'PIR54850', 'score': 0.26}, {'connected_gene': 'COL14A1', 'score': 0.14}, {'connected_gene': 'MTBP', 'score': 0.06}]
chr8	GH08I120221	120221122	120221271	0.2	[{'connected_gene': 'PIR54850', 'score': 0.15}, {'connected_gene': 'COL14A1', 'score': 0.1}, {'connected_gene': 'MTBP', 'score': 0.07}]
chr8	GH08I120161	120161345	120164988	0.72	[{'connected_gene': 'ENSG00000254343', 'score': 4.49}, {'connected_gene': 'PIR54850', 'score': 0.26}, {'connected_gene': 'COL14A1', 'score': 0.15}, {'connected_gene': 'MTBP', 'score': 0.06}]
chr8	GH08I120242	120241362	120241511	0.2	[{'connected_gene': 'PIR54850', 'score': 0.13}, {'connected_gene': 'COL14A1', 'score': 0.09}, {'connected_gene': 'MTBP', 'score': 0.08}]
chr8	GH08I120241	120241791	120244026	0.74	[{'connected_gene': 'PIR54850', 'score': 0.13}, {'connected_gene': 'COL14A1', 'score': 0.09}, {'connected_gene': 'MTBP', 'score': 0.08}]