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
ENST00000392446	[[76987798, 76990002], [76991099, 76991303], [76993073, 76993726], [76993921, 76994045], [77005745, 77005812]]	[[76989631, 76990002], [76991099, 76991303], [76993073, 76993704]]
ENST00000302345	[[76987798, 76990002], [76991099, 76991303], [76993073, 76994045], [77005745, 77005899]]	[[76989631, 76990002], [76991099, 76991303], [76993073, 76993704]]
ENST00000592228	[[76987801, 76988222], [76988491, 76988843], [76993057, 76993726], [77005745, 77005849]]	[[76988695, 76988843], [76993057, 76993704]]
ENST00000591773	[[76989568, 76990002], [76991099, 76991303], [76993073, 76993726], [76993921, 76994045], [76994229, 76994368], [77005745, 77005860]]	[[76989631, 76990002], [76991099, 76991303], [76993073, 76993704]]
ENST00000588096	[[76989865, 76990002], [76991099, 76991331]]	None
ENST00000588611	[[76993187, 76993411], [76993572, 76993726], [76993921, 76994045], [76996181, 76996352], [77001453, 77001563], [77005745, 77005862]]	[[76993187, 76993411], [76993572, 76993704]]
ENST00000588075	[[76993474, 76994045], [76996181, 76996352], [77005745, 77005884]]	[[76993474, 76993704]]
ENST00000590370	[[76993508, 76993726], [76993921, 76994045], [76996181, 76996352], [77005745, 77005846]]	[[76993508, 76993704]]
ENST00000586916	[[76993521, 76993726], [76993921, 76994045], [76994229, 76994368], [76996181, 76996352], [77005745, 77005875]]	[[76993521, 76993704]]
ENST00000592033	[[76993588, 76993726], [76993921, 76994045], [77001453, 77001563], [77005745, 77005875]]	[[76993588, 76993704]]
ENST00000591811	[[76993588, 76993726], [76993921, 76994045], [77005745, 77005949]]	[[76993588, 76993704]]
ENST00000591625	[[76993658, 76994045], [77001453, 77001563], [77005745, 77005847]]	[[76993658, 76993704]]
ENST00000592887	[[76993747, 76994045], [77002038, 77002295]]	None
ENST00000587242	[[76994229, 76994368], [76996181, 76996352], [77001453, 77001563], [77005745, 77005875]]	None
ENST00000591732	[[76994310, 76994368], [76996181, 76996352], [77001453, 77001563], [77004144, 77004253], [77005745, 77005875]]	None
NM_001159772	[[76987797, 76990002], [76991099, 76991303], [76993073, 76993726], [76993921, 76994045], [76994229, 76994368], [77005745, 77005899]]	[[76989631, 76990002], [76991099, 76991303], [76993073, 76993704]]
NM_138793	[[76987797, 76990002], [76991099, 76991303], [76993073, 76994045], [77005745, 77005899]]	[[76989631, 76990002], [76991099, 76991303], [76993073, 76993704]]
NM_001159773	[[76987797, 76990002], [76991099, 76991303], [76993073, 76993726], [76993921, 76994045], [77005745, 77005899]]	[[76989631, 76990002], [76991099, 76991303], [76993073, 76993704]]

Promoter

Chrom	Start	End	Description
chr17	76989822	76989829	CAGE_peak_5_at_CANT1_5end
chr17	77005785	77005800	CAGE_peak_3_at_CANT1_5end
chr17	77005801	77005812	CAGE_peak_4_at_CANT1_5end
chr17	77005813	77005856	CAGE_peak_1_at_CANT1_5end
chr17	77005863	77005882	CAGE_peak_2_at_CANT1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I079227	79227544	79229231	0.38	[{'connected_gene': 'EIF4A3', 'score': 15.66}, {'connected_gene': 'USP36', 'score': 11.71}, {'connected_gene': 'ENGASE', 'score': 10.79}, {'connected_gene': 'SGSH', 'score': 9.88}, {'connected_gene': 'CANT1', 'score': 9.74}, {'connected_gene': 'PIR62880', 'score': 0.34}, {'connected_gene': 'GC17M079268', 'score': 0.26}, {'connected_gene': 'RBFOX3', 'score': 0.05}]
chr17	GH17I079984	79984528	79995585	2.3	[{'connected_gene': 'EIF4A3', 'score': 25.29}, {'connected_gene': 'CCDC40', 'score': 23.25}, {'connected_gene': 'ENGASE', 'score': 14.06}, {'connected_gene': 'CBX2', 'score': 13.73}, {'connected_gene': 'TBC1D16', 'score': 11.96}, {'connected_gene': 'LOC100294362', 'score': 11.2}, {'connected_gene': 'ENDOV', 'score': 10.82}, {'connected_gene': 'SGSH', 'score': 9.93}, {'connected_gene': 'CANT1', 'score': 9.69}, {'connected_gene': 'ENSG00000262580', 'score': 5.5}, {'connected_gene': 'CBX4', 'score': 3.89}, {'connected_gene': 'CBX8', 'score': 2.16}, {'connected_gene': 'GAA', 'score': 1.26}, {'connected_gene': 'RNF213', 'score': 1.14}, {'connected_gene': 'ENSG00000262172', 'score': 0.77}, {'connected_gene': 'GC17P079977', 'score': 0.39}]
chr17	GH17I078767	78767879	78768799	0.74	[{'connected_gene': 'CYTH1', 'score': 23.9}, {'connected_gene': 'PGS1', 'score': 6.23}, {'connected_gene': 'CANT1', 'score': 3.76}, {'connected_gene': 'USP36', 'score': 2.04}, {'connected_gene': 'SOCS3', 'score': 1.44}, {'connected_gene': 'RNU6-638P', 'score': 0.19}]
chr17	GH17I078596	78596601	78596985	0.75	[{'connected_gene': 'SOCS3', 'score': 13.77}, {'connected_gene': 'RNU6-638P', 'score': 10.19}, {'connected_gene': 'PGS1', 'score': 5.24}, {'connected_gene': 'CYTH1', 'score': 3.62}, {'connected_gene': 'USP36', 'score': 2.09}, {'connected_gene': 'ENGASE', 'score': 1.76}, {'connected_gene': 'CANT1', 'score': 1.55}, {'connected_gene': 'GC17P078578', 'score': 0.37}, {'connected_gene': 'LINC02081', 'score': 0.28}]
chr17	GH17I079944	79944813	79946235	0.31	[{'connected_gene': 'CBX4', 'score': 11.66}, {'connected_gene': 'CANT1', 'score': 4.64}, {'connected_gene': 'PIR49167', 'score': 0.77}, {'connected_gene': 'GC17P079941', 'score': 0.77}, {'connected_gene': 'TBC1D16', 'score': 0.16}]
chr17	GH17I078875	78875030	78877451	1.26	[{'connected_gene': 'TIMP2', 'score': 13.74}, {'connected_gene': 'USP36', 'score': 12.18}, {'connected_gene': 'PGS1', 'score': 5.28}, {'connected_gene': 'CANT1', 'score': 2.05}, {'connected_gene': 'CYTH1', 'score': 1.44}, {'connected_gene': 'PIR59444', 'score': 0.77}, {'connected_gene': 'GC17P078863', 'score': 0.39}, {'connected_gene': 'CEP295NL', 'score': 0.31}]
chr17	GH17I079082	79082719	79082868	0.65	[{'connected_gene': 'ENGASE', 'score': 11.94}, {'connected_gene': 'CANT1', 'score': 6.44}, {'connected_gene': 'PIR37581', 'score': 0.77}]
chr17	GH17I079047	79047314	79047628	0.4	[{'connected_gene': 'ENGASE', 'score': 19.88}, {'connected_gene': 'C1QTNF1', 'score': 12.35}, {'connected_gene': 'CANT1', 'score': 11.75}, {'connected_gene': 'C1QTNF1-AS1', 'score': 0.37}]
chr17	GH17I079072	79072629	79076262	1.94	[{'connected_gene': 'ENGASE', 'score': 562.4}, {'connected_gene': 'C1QTNF1', 'score': 21.55}, {'connected_gene': 'CANT1', 'score': 11.01}, {'connected_gene': 'PIR37581', 'score': 0.39}]
chr17	GH17I078878	78878137	78887293	1.7	[{'connected_gene': 'USP36', 'score': 19.1}, {'connected_gene': 'TIMP2', 'score': 13.75}, {'connected_gene': 'CYTH1', 'score': 6.21}, {'connected_gene': 'CANT1', 'score': 6.03}, {'connected_gene': 'ENGASE', 'score': 2.05}, {'connected_gene': 'PIR59444', 'score': 0.77}, {'connected_gene': 'ENSG00000279339', 'score': 0.39}, {'connected_gene': 'CEP295NL', 'score': 0.34}]
chr17	GH17I078932	78932459	78936912	1.73	[{'connected_gene': 'USP36', 'score': 17.63}, {'connected_gene': 'C1QTNF1', 'score': 10.0}, {'connected_gene': 'ENSG00000267491', 'score': 7.63}, {'connected_gene': 'CEP295NL', 'score': 6.11}, {'connected_gene': 'CANT1', 'score': 1.72}, {'connected_gene': 'TIMP2', 'score': 0.44}, {'connected_gene': 'GC17P078963', 'score': 0.31}]
chr17	GH17I079800	79800292	79802101	1.18	[{'connected_gene': 'CBX8', 'score': 550.77}, {'connected_gene': 'ENSG00000262768', 'score': 550.77}, {'connected_gene': 'EIF4A3', 'score': 15.69}, {'connected_gene': 'USP36', 'score': 11.69}, {'connected_gene': 'ENGASE', 'score': 10.72}, {'connected_gene': 'SGSH', 'score': 9.9}, {'connected_gene': 'CANT1', 'score': 9.69}]
chr17	GH17I078974	78974329	78981308	2.43	[{'connected_gene': 'LGALS3BP', 'score': 550.77}, {'connected_gene': 'USP36', 'score': 13.44}, {'connected_gene': 'CANT1', 'score': 8.43}, {'connected_gene': 'GC17P078963', 'score': 0.37}]
chr17	GH17I079002	79002215	79004554	0.59	[{'connected_gene': 'CANT1', 'score': 22.79}, {'connected_gene': 'ENGASE', 'score': 14.17}, {'connected_gene': 'USP36', 'score': 11.76}, {'connected_gene': 'GC17P079001', 'score': 0.77}]
chr17	GH17I079005	79005069	79006715	1.64	[{'connected_gene': 'CANT1', 'score': 562.56}, {'connected_gene': 'ENGASE', 'score': 8.53}, {'connected_gene': 'GC17P079001', 'score': 0.77}]
chr17	GH17I079007	79007514	79012665	2.24	[{'connected_gene': 'CANT1', 'score': 560.07}, {'connected_gene': 'USP36', 'score': 20.38}, {'connected_gene': 'ENGASE', 'score': 15.89}, {'connected_gene': 'GC17P079001', 'score': 0.44}, {'connected_gene': 'C1QTNF1', 'score': 0.39}]
chr17	GH17I078985	78985649	78988270	1.32	[{'connected_gene': 'CANT1', 'score': 27.73}, {'connected_gene': 'USP36', 'score': 20.39}, {'connected_gene': 'C1QTNF1', 'score': 11.36}, {'connected_gene': 'ENGASE', 'score': 5.88}, {'connected_gene': 'LGALS3BP', 'score': 0.44}, {'connected_gene': 'PIR37172', 'score': 0.44}]
chr17	GH17I078970	78970938	78972028	1.26	[{'connected_gene': 'CANT1', 'score': 5.16}, {'connected_gene': 'LGALS3BP', 'score': 0.44}, {'connected_gene': 'GC17P078963', 'score': 0.44}]
chr17	GH17I078964	78964841	78966031	0.46	[{'connected_gene': 'CANT1', 'score': 5.7}, {'connected_gene': 'GC17P078963', 'score': 0.77}, {'connected_gene': 'LGALS3BP', 'score': 0.39}]
chr17	GH17I079016	79016947	79018382	0.57	[{'connected_gene': 'CANT1', 'score': 6.43}, {'connected_gene': 'C1QTNF1', 'score': 0.44}]
chr17	GH17I078852	78852627	78853608	0.85	[{'connected_gene': 'CANT1', 'score': 10.51}, {'connected_gene': 'RNU6-638P', 'score': 9.63}, {'connected_gene': 'ENSG00000267601', 'score': 0.77}, {'connected_gene': 'RPL9P29', 'score': 0.44}, {'connected_gene': 'TIMP2', 'score': 0.19}]
chr17	GH17I079036	79036082	79039733	1.44	[{'connected_gene': 'C1QTNF1', 'score': 21.41}, {'connected_gene': 'ENGASE', 'score': 11.05}, {'connected_gene': 'CANT1', 'score': 11.02}, {'connected_gene': 'BIRC5', 'score': 5.09}, {'connected_gene': 'CYTH1', 'score': 5.01}, {'connected_gene': 'USP36', 'score': 1.59}, {'connected_gene': 'C1QTNF1-AS1', 'score': 0.39}]
chr17	GH17I079022	79022249	79028788	2.66	[{'connected_gene': 'C1QTNF1', 'score': 564.89}, {'connected_gene': 'ENGASE', 'score': 8.16}, {'connected_gene': 'CANT1', 'score': 8.16}, {'connected_gene': 'C1QTNF1-AS1', 'score': 0.77}]
chr17	GH17I079039	79039933	79040146	0.44	[{'connected_gene': 'C1QTNF1', 'score': 21.61}, {'connected_gene': 'CANT1', 'score': 11.0}, {'connected_gene': 'CYTH1', 'score': 3.31}, {'connected_gene': 'ENGASE', 'score': 3.0}, {'connected_gene': 'C1QTNF1-AS1', 'score': 0.39}]
chr17	GH17I079019	79019341	79021287	1.25	[{'connected_gene': 'C1QTNF1', 'score': 6.41}, {'connected_gene': 'C1QTNF1-AS1', 'score': 0.44}, {'connected_gene': 'CANT1', 'score': 0.39}]
chr17	GH17I078406	78406733	78410097	0.96	[{'connected_gene': 'GC17M078388', 'score': 550.77}, {'connected_gene': 'PGS1', 'score': 21.66}, {'connected_gene': 'USP36', 'score': 19.68}, {'connected_gene': 'SOCS3', 'score': 11.76}, {'connected_gene': 'ENGASE', 'score': 10.72}, {'connected_gene': 'RNU6-638P', 'score': 9.9}, {'connected_gene': 'CANT1', 'score': 9.7}, {'connected_gene': 'DNAH17', 'score': 4.86}, {'connected_gene': 'DNAH17-AS1', 'score': 0.18}]
chr17	GH17I078919	78919846	78926564	2.39	[{'connected_gene': 'PIR33852', 'score': 550.77}, {'connected_gene': 'TIMP2', 'score': 550.77}, {'connected_gene': 'ENSG00000267491', 'score': 9.89}, {'connected_gene': 'CANT1', 'score': 8.89}, {'connected_gene': 'CEP295NL', 'score': 5.75}, {'connected_gene': 'CYTH1', 'score': 2.23}]
chr17	GH17I078557	78557257	78558401	1.25	[{'connected_gene': 'GC17M078554', 'score': 550.77}, {'connected_gene': 'USP36', 'score': 61.28}, {'connected_gene': 'TNRC6C', 'score': 43.15}, {'connected_gene': 'DNAH17', 'score': 11.51}, {'connected_gene': 'ENGASE', 'score': 10.72}, {'connected_gene': 'RNU6-638P', 'score': 10.65}, {'connected_gene': 'CANT1', 'score': 9.71}]
chr17	GH17I078914	78914750	78919511	1.2	[{'connected_gene': 'ENSG00000267491', 'score': 9.95}, {'connected_gene': 'USP36', 'score': 6.65}, {'connected_gene': 'CANT1', 'score': 6.33}, {'connected_gene': 'CYTH1', 'score': 2.44}, {'connected_gene': 'PIR33852', 'score': 0.44}, {'connected_gene': 'TIMP2', 'score': 0.44}]
chr17	GH17I078995	78995011	78997185	0.76	[{'connected_gene': 'PIR52059', 'score': 550.77}, {'connected_gene': 'GC17M079104', 'score': 550.77}, {'connected_gene': 'GC17M079090', 'score': 550.77}, {'connected_gene': 'PIR56301', 'score': 550.77}, {'connected_gene': 'PIR47743', 'score': 550.77}, {'connected_gene': 'GC17M079095', 'score': 550.77}, {'connected_gene': 'CANT1', 'score': 10.77}, {'connected_gene': 'BIRC5', 'score': 5.49}, {'connected_gene': 'GC17M079108', 'score': 0.77}, {'connected_gene': 'PIR40001', 'score': 0.77}]
chr17	GH17I078999	78999986	79002116	0.46	[{'connected_gene': 'GC17P079001', 'score': 550.77}, {'connected_gene': 'GC17M079109', 'score': 550.77}, {'connected_gene': 'CANT1', 'score': 12.65}, {'connected_gene': 'C1QTNF1', 'score': 11.51}, {'connected_gene': 'BIRC5', 'score': 6.04}]
chr17	GH17I078997	78997811	78999513	0.79	[{'connected_gene': 'PIR52059', 'score': 550.77}, {'connected_gene': 'GC17M079104', 'score': 550.77}, {'connected_gene': 'GC17M079090', 'score': 550.77}, {'connected_gene': 'GC17M079109', 'score': 550.77}, {'connected_gene': 'PIR56301', 'score': 550.77}, {'connected_gene': 'PIR47743', 'score': 550.77}, {'connected_gene': 'GC17M079095', 'score': 550.77}, {'connected_gene': 'CANT1', 'score': 17.02}, {'connected_gene': 'C1QTNF1', 'score': 11.51}]
chr17	GH17I078855	78854119	78854268	0.84	[{'connected_gene': 'ENSG00000267601', 'score': 550.77}, {'connected_gene': 'CANT1', 'score': 10.51}, {'connected_gene': 'RNU6-638P', 'score': 9.63}, {'connected_gene': 'RPL9P29', 'score': 0.44}, {'connected_gene': 'TIMP2', 'score': 0.19}]
chr17	GH17I078993	78993903	78994646	0.31	[{'connected_gene': 'PIR34009', 'score': 550.77}, {'connected_gene': 'PIR56882', 'score': 550.77}, {'connected_gene': 'PIR47088', 'score': 550.77}, {'connected_gene': 'GC17M079108', 'score': 550.77}, {'connected_gene': 'PIR58809', 'score': 550.77}, {'connected_gene': 'GC17M079107', 'score': 550.77}, {'connected_gene': 'GC17M079033', 'score': 550.77}, {'connected_gene': 'PIR40001', 'score': 550.77}, {'connected_gene': 'GC17M079073', 'score': 550.77}, {'connected_gene': 'CANT1', 'score': 16.36}, {'connected_gene': 'PIR52059', 'score': 0.77}]
chr17	GH17I078994	78993091	78993708	0.85	[{'connected_gene': 'PIR34009', 'score': 550.77}, {'connected_gene': 'PIR56882', 'score': 550.77}, {'connected_gene': 'PIR54418', 'score': 550.77}, {'connected_gene': 'PIR47088', 'score': 550.77}, {'connected_gene': 'GC17M079108', 'score': 550.77}, {'connected_gene': 'PIR58809', 'score': 550.77}, {'connected_gene': 'GC17M079107', 'score': 550.77}, {'connected_gene': 'GC17M079033', 'score': 550.77}, {'connected_gene': 'PIR37172', 'score': 550.77}, {'connected_gene': 'PIR40001', 'score': 550.77}, {'connected_gene': 'GC17M079073', 'score': 550.77}, {'connected_gene': 'PIR52059', 'score': 0.77}, {'connected_gene': 'CANT1', 'score': 0.37}]
chr17	GH17I078992	78992699	78992848	0.58	[{'connected_gene': 'PIR34009', 'score': 550.77}, {'connected_gene': 'PIR56882', 'score': 550.77}, {'connected_gene': 'PIR54418', 'score': 550.77}, {'connected_gene': 'PIR47088', 'score': 550.77}, {'connected_gene': 'GC17M079108', 'score': 550.77}, {'connected_gene': 'PIR58809', 'score': 550.77}, {'connected_gene': 'GC17M079107', 'score': 550.77}, {'connected_gene': 'GC17M079033', 'score': 550.77}, {'connected_gene': 'PIR37172', 'score': 550.77}, {'connected_gene': 'PIR40001', 'score': 550.77}, {'connected_gene': 'GC17M079073', 'score': 550.77}, {'connected_gene': 'CANT1', 'score': 0.37}]