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
ENST00000264033	[[119076751, 119077322], [119103157, 119103405], [119142444, 119142591], [119144577, 119144734], [119145541, 119145663], [119146706, 119146844], [119148466, 119148554], [119148875, 119149007], [119149219, 119149423], [119155678, 119155810], [119155898, 119156276], [119158561, 119158656], [119167627, 119167744], [119168093, 119168191], [119169067, 119169250], [119170204, 119178859]]	[[119077127, 119077322], [119103157, 119103405], [119142444, 119142591], [119144577, 119144734], [119145541, 119145663], [119146706, 119146844], [119148466, 119148554], [119148875, 119149007], [119149219, 119149423], [119155678, 119155810], [119155898, 119156276], [119158561, 119158656], [119167627, 119167744], [119168093, 119168191], [119169067, 119169250], [119170204, 119170491]]
NM_005188	[[119076985, 119077322], [119103157, 119103405], [119142444, 119142591], [119144577, 119144734], [119145541, 119145663], [119146706, 119146844], [119148466, 119148554], [119148875, 119149007], [119149219, 119149423], [119155678, 119155810], [119155898, 119156276], [119158561, 119158656], [119167627, 119167744], [119168093, 119168191], [119169067, 119169250], [119170204, 119178859]]	[[119077127, 119077322], [119103157, 119103405], [119142444, 119142591], [119144577, 119144734], [119145541, 119145663], [119146706, 119146844], [119148466, 119148554], [119148875, 119149007], [119149219, 119149423], [119155678, 119155810], [119155898, 119156276], [119158561, 119158656], [119167627, 119167744], [119168093, 119168191], [119169067, 119169250], [119170204, 119170491]]

Promoter

Chrom	Start	End	Description
chr11	119076745	119076792	CAGE_peak_2_at_CBL_5end
chr11	119076940	119076964	CAGE_peak_4_at_CBL_5end
chr11	119076965	119076994	CAGE_peak_3_at_CBL_5end
chr11	119077016	119077084	CAGE_peak_1_at_CBL_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr11	GH11I119257	119257775	119261168	0.72	[{'connected_gene': 'CBL', 'score': 13.9}, {'connected_gene': 'PDZD3', 'score': 10.93}, {'connected_gene': 'NLRX1', 'score': 10.91}, {'connected_gene': 'HMBS', 'score': 10.87}, {'connected_gene': 'ABCG4', 'score': 10.74}, {'connected_gene': 'C1QTNF5', 'score': 10.66}, {'connected_gene': 'MFRP', 'score': 10.66}, {'connected_gene': 'DPAGT1', 'score': 10.49}, {'connected_gene': 'C2CD2L', 'score': 10.49}, {'connected_gene': 'H2AFX', 'score': 10.22}, {'connected_gene': 'HINFP', 'score': 10.14}, {'connected_gene': 'MCAM', 'score': 8.81}, {'connected_gene': 'IFT46', 'score': 5.49}, {'connected_gene': 'GC11M119252', 'score': 0.44}, {'connected_gene': 'GC11M119278', 'score': 0.34}]
chr11	GH11I119205	119205007	119208146	1.94	[{'connected_gene': 'CBL', 'score': 566.63}, {'connected_gene': 'GC11M119206', 'score': 550.77}, {'connected_gene': 'CCDC153', 'score': 550.77}, {'connected_gene': 'RPL5P30', 'score': 5.17}, {'connected_gene': 'GC11M119252', 'score': 0.25}]
chr11	GH11I119310	119310699	119310930	0.4	[{'connected_gene': 'RNF26', 'score': 12.45}, {'connected_gene': 'ENSG00000245385', 'score': 12.42}, {'connected_gene': 'C1QTNF5', 'score': 11.68}, {'connected_gene': 'MFRP', 'score': 11.68}, {'connected_gene': 'ABCG4', 'score': 10.91}, {'connected_gene': 'PDZD3', 'score': 10.76}, {'connected_gene': 'NLRX1', 'score': 10.7}, {'connected_gene': 'MIR6756', 'score': 0.77}, {'connected_gene': 'PIR40709', 'score': 0.77}, {'connected_gene': 'MCAM', 'score': 0.39}, {'connected_gene': 'CBL', 'score': 0.15}]
chr11	GH11I119314	119314720	119322898	2.24	[{'connected_gene': 'MCAM', 'score': 550.77}, {'connected_gene': 'RNF26', 'score': 21.81}, {'connected_gene': 'CBL', 'score': 7.09}, {'connected_gene': 'IFT46', 'score': 6.27}, {'connected_gene': 'RPS25', 'score': 4.81}, {'connected_gene': 'ENSG00000271751', 'score': 4.79}, {'connected_gene': 'GC11M119321', 'score': 0.77}, {'connected_gene': 'MIR6756', 'score': 0.44}]
chr11	GH11I119221	119221991	119223200	0.51	[{'connected_gene': 'HMBS', 'score': 5.77}, {'connected_gene': 'CCDC153', 'score': 0.37}, {'connected_gene': 'CBL', 'score': 0.37}, {'connected_gene': 'GC11M119252', 'score': 0.29}]
chr11	GH11I119210	119210001	119210200	0.31	[{'connected_gene': 'CCDC153', 'score': 0.77}, {'connected_gene': 'CBL', 'score': 0.77}, {'connected_gene': 'GC11M119252', 'score': 0.26}]
chr11	GH11I118906	118906480	118931105	2.88	[{'connected_gene': 'BCL9L', 'score': 577.01}, {'connected_gene': 'DPAGT1', 'score': 32.47}, {'connected_gene': 'UBE4A', 'score': 28.16}, {'connected_gene': 'ENSG00000254909', 'score': 28.08}, {'connected_gene': 'RPL23AP64', 'score': 25.24}, {'connected_gene': 'ARCN1', 'score': 24.99}, {'connected_gene': 'ENSG00000254428', 'score': 23.08}, {'connected_gene': 'RNF26', 'score': 19.84}, {'connected_gene': 'CCDC84', 'score': 16.8}, {'connected_gene': 'KMT2A', 'score': 15.66}, {'connected_gene': 'CXCR5', 'score': 15.27}, {'connected_gene': 'MPZL2', 'score': 13.97}, {'connected_gene': 'DDX6', 'score': 13.42}, {'connected_gene': 'RPS25', 'score': 13.01}, {'connected_gene': 'VPS11', 'score': 12.54}, {'connected_gene': 'HMBS', 'score': 12.4}, {'connected_gene': 'ENSG00000222529', 'score': 12.22}, {'connected_gene': 'FOXR1', 'score': 12.22}, {'connected_gene': 'C2CD2L', 'score': 12.12}, {'connected_gene': 'ENSG00000255121', 'score': 11.37}, {'connected_gene': 'ENSG00000245869', 'score': 11.36}, {'connected_gene': 'JAML', 'score': 10.87}, {'connected_gene': 'HINFP', 'score': 10.27}, {'connected_gene': 'H2AFX', 'score': 10.24}, {'connected_gene': 'TRAPPC4', 'score': 9.9}, {'connected_gene': 'RPL5P30', 'score': 9.78}, {'connected_gene': 'UPK2', 'score': 3.43}, {'connected_gene': 'HYOU1', 'score': 2.91}, {'connected_gene': 'SLC37A4', 'score': 2.67}, {'connected_gene': 'PHLDB1', 'score': 2.39}, {'connected_gene': 'CBL', 'score': 2.38}, {'connected_gene': 'CCDC153', 'score': 1.67}, {'connected_gene': 'MIR4492', 'score': 0.44}, {'connected_gene': 'GC11P118898', 'score': 0.34}]
chr11	GH11I118874	118874824	118879867	1.58	[{'connected_gene': 'BCL9L', 'score': 28.47}, {'connected_gene': 'DDX6', 'score': 18.49}, {'connected_gene': 'ENSG00000254909', 'score': 18.27}, {'connected_gene': 'UBE4A', 'score': 17.44}, {'connected_gene': 'ARCN1', 'score': 16.84}, {'connected_gene': 'RPL23AP64', 'score': 16.82}, {'connected_gene': 'ENSG00000254428', 'score': 14.53}, {'connected_gene': 'MPZL2', 'score': 13.97}, {'connected_gene': 'DPAGT1', 'score': 13.42}, {'connected_gene': 'RPS25', 'score': 12.44}, {'connected_gene': 'TREHP1', 'score': 11.89}, {'connected_gene': 'UPK2', 'score': 11.28}, {'connected_gene': 'RN7SL688P', 'score': 11.03}, {'connected_gene': 'RNF26', 'score': 10.41}, {'connected_gene': 'PHLDB1', 'score': 9.36}, {'connected_gene': 'LOC105369519', 'score': 7.75}, {'connected_gene': 'TREH', 'score': 7.72}, {'connected_gene': 'CXCR5', 'score': 6.42}, {'connected_gene': 'CCDC84', 'score': 5.87}, {'connected_gene': 'IFT46', 'score': 4.71}, {'connected_gene': 'TRAPPC4', 'score': 4.54}, {'connected_gene': 'CBL', 'score': 4.45}, {'connected_gene': 'KMT2A', 'score': 4.01}, {'connected_gene': 'VPS11', 'score': 2.82}, {'connected_gene': 'CCDC153', 'score': 1.72}, {'connected_gene': 'ENSG00000201535', 'score': 0.26}]
chr11	GH11I119217	119217321	119219347	0.93	[{'connected_gene': 'HINFP', 'score': 27.02}, {'connected_gene': 'NLRX1', 'score': 20.07}, {'connected_gene': 'CBL', 'score': 19.93}, {'connected_gene': 'PDZD3', 'score': 11.62}, {'connected_gene': 'ABCG4', 'score': 10.83}, {'connected_gene': 'DPAGT1', 'score': 10.54}, {'connected_gene': 'C2CD2L', 'score': 10.54}, {'connected_gene': 'H2AFX', 'score': 10.53}, {'connected_gene': 'HMBS', 'score': 10.52}, {'connected_gene': 'MFRP', 'score': 10.28}, {'connected_gene': 'C1QTNF5', 'score': 10.28}, {'connected_gene': 'MCAM', 'score': 9.16}, {'connected_gene': 'ENSG00000271751', 'score': 5.29}, {'connected_gene': 'CCDC153', 'score': 0.39}, {'connected_gene': 'GC11M119252', 'score': 0.29}]
chr11	GH11I118868	118868044	118871564	1.52	[{'connected_gene': 'DDX6', 'score': 26.33}, {'connected_gene': 'CCDC84', 'score': 16.15}, {'connected_gene': 'TREHP1', 'score': 13.36}, {'connected_gene': 'UPK2', 'score': 11.27}, {'connected_gene': 'FOXR1', 'score': 11.2}, {'connected_gene': 'ENSG00000222529', 'score': 11.2}, {'connected_gene': 'BCL9L', 'score': 11.02}, {'connected_gene': 'RN7SL688P', 'score': 11.0}, {'connected_gene': 'ENSG00000255176', 'score': 10.55}, {'connected_gene': 'PHLDB1', 'score': 10.54}, {'connected_gene': 'ENSG00000255121', 'score': 10.54}, {'connected_gene': 'NLRX1', 'score': 9.17}, {'connected_gene': 'TREH', 'score': 7.43}, {'connected_gene': 'CXCR5', 'score': 6.99}, {'connected_gene': 'CBL', 'score': 6.14}, {'connected_gene': 'KMT2A', 'score': 2.93}, {'connected_gene': 'VPS11', 'score': 2.16}, {'connected_gene': 'RPS25', 'score': 1.61}, {'connected_gene': 'CCDC153', 'score': 1.23}, {'connected_gene': 'ENSG00000201535', 'score': 0.29}]
chr11	GH11I119262	119262137	119264399	0.85	[{'connected_gene': 'RNU6-262P', 'score': 12.19}, {'connected_gene': 'NLRX1', 'score': 11.09}, {'connected_gene': 'PDZD3', 'score': 11.0}, {'connected_gene': 'ABCG4', 'score': 10.95}, {'connected_gene': 'HINFP', 'score': 10.7}, {'connected_gene': 'DPAGT1', 'score': 10.31}, {'connected_gene': 'H2AFX', 'score': 10.31}, {'connected_gene': 'C2CD2L', 'score': 10.3}, {'connected_gene': 'HMBS', 'score': 10.3}, {'connected_gene': 'GC11M119252', 'score': 0.39}, {'connected_gene': 'GC11M119278', 'score': 0.37}, {'connected_gene': 'CBL', 'score': 0.22}]
chr11	GH11I119240	119240862	119241579	0.2	[{'connected_gene': 'RNU6-262P', 'score': 13.08}, {'connected_gene': 'NLRX1', 'score': 11.32}, {'connected_gene': 'HINFP', 'score': 10.82}, {'connected_gene': 'PDZD3', 'score': 10.75}, {'connected_gene': 'ABCG4', 'score': 10.64}, {'connected_gene': 'C2CD2L', 'score': 10.39}, {'connected_gene': 'DPAGT1', 'score': 10.39}, {'connected_gene': 'H2AFX', 'score': 10.15}, {'connected_gene': 'HMBS', 'score': 10.14}, {'connected_gene': 'GC11M119252', 'score': 0.39}, {'connected_gene': 'CBL', 'score': 0.29}, {'connected_gene': 'CCDC153', 'score': 0.29}]
chr11	GH11I119590	119590068	119591984	1.16	[{'connected_gene': 'RNU6-1123P', 'score': 10.78}, {'connected_gene': 'CBL', 'score': 1.41}, {'connected_gene': 'PIR32447', 'score': 0.77}, {'connected_gene': 'KRT8P7', 'score': 0.39}]
chr11	GH11I119594	119594279	119595692	1.35	[{'connected_gene': 'RNU6-1123P', 'score': 10.79}, {'connected_gene': 'CBL', 'score': 1.27}, {'connected_gene': 'PIR32447', 'score': 0.44}, {'connected_gene': 'KRT8P7', 'score': 0.44}]
chr11	GH11I119902	119902232	119910526	1.02	[{'connected_gene': 'LOC105369526', 'score': 550.77}, {'connected_gene': 'RNU6-1123P', 'score': 10.84}, {'connected_gene': 'CBL', 'score': 4.92}, {'connected_gene': 'GC11M119983', 'score': 0.18}]
chr11	GH11I119524	119524950	119525978	0.88	[{'connected_gene': 'LOC105369520', 'score': 10.31}, {'connected_gene': 'CBL', 'score': 2.13}, {'connected_gene': 'GC11P119511', 'score': 0.39}, {'connected_gene': 'GC11P119550', 'score': 0.34}, {'connected_gene': 'USP2-AS1', 'score': 0.11}]
chr11	GH11I119312	119312015	119313245	0.2	[{'connected_gene': 'MIR6756', 'score': 550.77}, {'connected_gene': 'RNF26', 'score': 12.45}, {'connected_gene': 'ENSG00000245385', 'score': 12.45}, {'connected_gene': 'C1QTNF5', 'score': 11.7}, {'connected_gene': 'MFRP', 'score': 11.7}, {'connected_gene': 'ABCG4', 'score': 10.91}, {'connected_gene': 'PDZD3', 'score': 10.76}, {'connected_gene': 'NLRX1', 'score': 10.7}, {'connected_gene': 'PIR40709', 'score': 0.44}, {'connected_gene': 'MCAM', 'score': 0.44}, {'connected_gene': 'CBL', 'score': 0.14}]
chr11	GH11I119297	119297402	119300509	0.63	[{'connected_gene': 'GC11P119299', 'score': 550.77}, {'connected_gene': 'GC11P119300', 'score': 550.77}, {'connected_gene': 'CBL', 'score': 20.94}, {'connected_gene': 'NLRX1', 'score': 11.15}, {'connected_gene': 'ABCG4', 'score': 10.89}, {'connected_gene': 'C1QTNF5', 'score': 10.84}, {'connected_gene': 'MFRP', 'score': 10.84}, {'connected_gene': 'MCAM', 'score': 9.25}, {'connected_gene': 'HMBS', 'score': 6.58}, {'connected_gene': 'IFT46', 'score': 5.49}, {'connected_gene': 'USP2', 'score': 4.99}, {'connected_gene': 'RNU6-262P', 'score': 0.44}]
chr11	GH11I119300	119300917	119302236	0.4	[{'connected_gene': 'GC11P119399', 'score': 550.77}, {'connected_gene': 'PIR32834', 'score': 550.77}, {'connected_gene': 'PIR58080', 'score': 550.77}, {'connected_gene': 'GC11P119404', 'score': 550.77}, {'connected_gene': 'PIR50609', 'score': 550.77}, {'connected_gene': 'GC11P119410', 'score': 550.77}, {'connected_gene': 'GC11P119408', 'score': 550.77}, {'connected_gene': 'GC11P119407', 'score': 550.77}, {'connected_gene': 'PIR38568', 'score': 550.77}, {'connected_gene': 'PIR53174', 'score': 550.77}, {'connected_gene': 'PIR41991', 'score': 550.77}, {'connected_gene': 'PIR56712', 'score': 550.77}, {'connected_gene': 'PIR38260', 'score': 550.77}, {'connected_gene': 'GC11P119299', 'score': 550.77}, {'connected_gene': 'GC11P119300', 'score': 550.77}, {'connected_gene': 'GC11P119409', 'score': 550.77}, {'connected_gene': 'MFRP', 'score': 11.12}, {'connected_gene': 'C1QTNF5', 'score': 11.12}, {'connected_gene': 'NLRX1', 'score': 10.63}, {'connected_gene': 'MCAM', 'score': 9.24}, {'connected_gene': 'CBL', 'score': 0.15}]
chr11	GH11I119308	119308050	119309102	0.38	[{'connected_gene': 'PIR40709', 'score': 550.77}, {'connected_gene': 'RNF26', 'score': 12.42}, {'connected_gene': 'ENSG00000245385', 'score': 12.42}, {'connected_gene': 'C1QTNF5', 'score': 11.68}, {'connected_gene': 'MFRP', 'score': 11.68}, {'connected_gene': 'ABCG4', 'score': 10.92}, {'connected_gene': 'PDZD3', 'score': 10.75}, {'connected_gene': 'NLRX1', 'score': 10.71}, {'connected_gene': 'MCAM', 'score': 7.67}, {'connected_gene': 'CCDC153', 'score': 6.76}, {'connected_gene': 'MIR6756', 'score': 0.77}, {'connected_gene': 'CBL', 'score': 0.15}]
chr11	GH11I119253	119253986	119254005	0.24	[{'connected_gene': 'GC11M119252', 'score': 550.77}, {'connected_gene': 'ABCG4', 'score': 10.75}, {'connected_gene': 'PDZD3', 'score': 10.73}, {'connected_gene': 'HINFP', 'score': 10.11}, {'connected_gene': 'MFRP', 'score': 10.05}, {'connected_gene': 'C1QTNF5', 'score': 10.05}, {'connected_gene': 'GC11M119278', 'score': 0.31}, {'connected_gene': 'CBL', 'score': 0.25}]
chr11	GH11I119284	119284491	119284640	0.56	[{'connected_gene': 'PIR36750', 'score': 550.77}, {'connected_gene': 'GC11P119286', 'score': 550.77}, {'connected_gene': 'ABCG4', 'score': 11.52}, {'connected_gene': 'NLRX1', 'score': 10.47}, {'connected_gene': 'DPAGT1', 'score': 10.44}, {'connected_gene': 'C2CD2L', 'score': 10.44}, {'connected_gene': 'H2AFX', 'score': 10.43}, {'connected_gene': 'HMBS', 'score': 10.43}, {'connected_gene': 'GC11M119278', 'score': 0.77}, {'connected_gene': 'CBL', 'score': 0.18}]
chr11	GH11I119285	119284691	119284880	0.62	[{'connected_gene': 'PIR36750', 'score': 550.77}, {'connected_gene': 'GC11P119286', 'score': 550.77}, {'connected_gene': 'ABCG4', 'score': 11.52}, {'connected_gene': 'NLRX1', 'score': 10.47}, {'connected_gene': 'DPAGT1', 'score': 10.44}, {'connected_gene': 'C2CD2L', 'score': 10.44}, {'connected_gene': 'H2AFX', 'score': 10.43}, {'connected_gene': 'HMBS', 'score': 10.43}, {'connected_gene': 'GC11M119278', 'score': 0.77}, {'connected_gene': 'CBL', 'score': 0.18}]
chr11	GH11I119237	119237051	119237200	0.38	[{'connected_gene': 'GC11M119252', 'score': 0.37}, {'connected_gene': 'CCDC153', 'score': 0.29}, {'connected_gene': 'CBL', 'score': 0.29}]
chr11	GH11I119305	119305003	119307697	1	[{'connected_gene': 'PIR37472', 'score': 550.77}, {'connected_gene': 'PIR40709', 'score': 550.77}, {'connected_gene': 'GC11P119412', 'score': 550.77}, {'connected_gene': 'HINFP', 'score': 15.57}, {'connected_gene': 'RNF26', 'score': 12.07}, {'connected_gene': 'ENSG00000245385', 'score': 12.05}, {'connected_gene': 'C1QTNF5', 'score': 11.02}, {'connected_gene': 'MFRP', 'score': 11.02}, {'connected_gene': 'NLRX1', 'score': 10.87}, {'connected_gene': 'ABCG4', 'score': 10.53}, {'connected_gene': 'DPAGT1', 'score': 10.18}, {'connected_gene': 'C2CD2L', 'score': 10.18}, {'connected_gene': 'MCAM', 'score': 9.3}, {'connected_gene': 'RN7SL688P', 'score': 9.11}, {'connected_gene': 'BCL9L', 'score': 9.11}, {'connected_gene': 'UPK2', 'score': 9.11}, {'connected_gene': 'CBL', 'score': 0.15}]
chr11	GH11I119336	119336398	119341729	2.13	[{'connected_gene': 'ENSG00000245385', 'score': 550.77}, {'connected_gene': 'C1QTNF5', 'score': 550.44}, {'connected_gene': 'RNF26', 'score': 84.84}, {'connected_gene': 'CBL', 'score': 5.04}, {'connected_gene': 'GC11M119337', 'score': 0.77}, {'connected_gene': 'MFRP', 'score': 0.44}]