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
ENST00000367935	[[162342992, 162344406], [162345079, 162345193], [162346477, 162346660]]	[[162343837, 162344406], [162345079, 162345193], [162346477, 162346580]]
ENST00000493255	[[162344233, 162344406], [162346324, 162346598]]	[[162346457, 162346580]]
NM_182581	[[162343514, 162344406], [162345079, 162345193], [162346477, 162346644]]	[[162343837, 162344406], [162345079, 162345193], [162346477, 162346580]]

Promoter

Chrom	Start	End	Description
chr1	162346590	162346593	CAGE_peak_4_at_C1orf111_5end
chr1	162346596	162346627	CAGE_peak_1_at_C1orf111_5end
chr1	162346632	162346653	CAGE_peak_2_at_C1orf111_5end
chr1	162346657	162346662	CAGE_peak_3_at_C1orf111_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I162065	162065551	162065700	0.56	[{'connected_gene': 'DEDD', 'score': 13.22}, {'connected_gene': 'USP21', 'score': 13.02}, {'connected_gene': 'LOC148430', 'score': 11.39}, {'connected_gene': 'B4GALT3', 'score': 11.25}, {'connected_gene': 'SH2D1B', 'score': 10.34}, {'connected_gene': 'DUSP12', 'score': 10.23}, {'connected_gene': 'MIR556', 'score': 10.16}, {'connected_gene': 'SPATA46', 'score': 9.29}, {'connected_gene': 'C1orf226', 'score': 9.29}, {'connected_gene': 'NOS1AP', 'score': 0.77}, {'connected_gene': 'GC01M162031', 'score': 0.37}, {'connected_gene': 'ENSG00000227818', 'score': 0.31}, {'connected_gene': 'GC01P162033', 'score': 0.29}]
chr1	GH01I162388	162388042	162390592	1.04	[{'connected_gene': 'MIR556', 'score': 10.81}, {'connected_gene': 'RGS4', 'score': 5.14}, {'connected_gene': 'SPATA46', 'score': 0.39}, {'connected_gene': 'SH2D1B', 'score': 0.34}]
chr1	GH01I162028	162028667	162029039	0.49	[{'connected_gene': 'MIR556', 'score': 9.54}, {'connected_gene': 'C1orf226', 'score': 9.07}, {'connected_gene': 'SPATA46', 'score': 9.02}, {'connected_gene': 'ATF6', 'score': 1.68}, {'connected_gene': 'OLFML2B', 'score': 0.77}, {'connected_gene': 'GC01P162033', 'score': 0.77}]
chr1	GH01I162026	162026861	162027188	0.22	[{'connected_gene': 'MIR556', 'score': 9.54}, {'connected_gene': 'C1orf226', 'score': 9.07}, {'connected_gene': 'SPATA46', 'score': 9.02}, {'connected_gene': 'ATF6', 'score': 5.89}, {'connected_gene': 'OLFML2B', 'score': 0.77}, {'connected_gene': 'GC01P162033', 'score': 0.44}]
chr1	GH01I162159	162159611	162159760	1	[{'connected_gene': 'PPOX', 'score': 23.02}, {'connected_gene': 'C1orf226', 'score': 9.7}, {'connected_gene': 'SPATA46', 'score': 9.7}, {'connected_gene': 'MIR4654', 'score': 0.77}, {'connected_gene': 'LOC105371475', 'score': 0.37}, {'connected_gene': 'NOS1AP', 'score': 0.17}]
chr1	GH01I162326	162326915	162328400	0.38	[{'connected_gene': 'C1orf226', 'score': 10.97}, {'connected_gene': 'SPATA46', 'score': 10.94}, {'connected_gene': 'SH2D1B', 'score': 10.74}, {'connected_gene': 'ENSG00000227094', 'score': 0.44}, {'connected_gene': 'RNA5SP61', 'score': 0.39}, {'connected_gene': 'NOS1AP', 'score': 0.07}]
chr1	GH01I162328	162328601	162328800	0.38	[{'connected_gene': 'C1orf226', 'score': 10.97}, {'connected_gene': 'SPATA46', 'score': 10.94}, {'connected_gene': 'SH2D1B', 'score': 10.74}, {'connected_gene': 'RNA5SP61', 'score': 0.44}, {'connected_gene': 'ENSG00000227094', 'score': 0.39}, {'connected_gene': 'NOS1AP', 'score': 0.07}]
chr1	GH01I162206	162206256	162208321	1.21	[{'connected_gene': 'C1orf226', 'score': 14.01}, {'connected_gene': 'SPATA46', 'score': 9.27}, {'connected_gene': 'LOC105371475', 'score': 0.29}, {'connected_gene': 'ENSG00000227094', 'score': 0.14}, {'connected_gene': 'NOS1AP', 'score': 0.12}]
chr1	GH01I162221	162221988	162225818	0.38	[{'connected_gene': 'C1orf226', 'score': 15.05}, {'connected_gene': 'SPATA46', 'score': 9.82}, {'connected_gene': 'LOC105371475', 'score': 0.25}, {'connected_gene': 'ENSG00000227094', 'score': 0.16}, {'connected_gene': 'NOS1AP', 'score': 0.1}]
chr1	GH01I162165	162165251	162166449	0.72	[{'connected_gene': 'C1orf226', 'score': 9.71}, {'connected_gene': 'SPATA46', 'score': 9.7}, {'connected_gene': 'LOC105371475', 'score': 0.44}, {'connected_gene': 'MIR4654', 'score': 0.44}, {'connected_gene': 'NOS1AP', 'score': 0.15}]
chr1	GH01I162162	162162832	162163146	0.2	[{'connected_gene': 'C1orf226', 'score': 9.71}, {'connected_gene': 'SPATA46', 'score': 9.7}, {'connected_gene': 'MIR4654', 'score': 0.44}, {'connected_gene': 'LOC105371475', 'score': 0.39}, {'connected_gene': 'NOS1AP', 'score': 0.16}]
chr1	GH01I162143	162143697	162146697	1.06	[{'connected_gene': 'C1orf226', 'score': 16.19}, {'connected_gene': 'SPATA46', 'score': 9.97}, {'connected_gene': 'MIR4654', 'score': 0.39}, {'connected_gene': 'LOC105371475', 'score': 0.31}, {'connected_gene': 'GC01M162031', 'score': 0.21}, {'connected_gene': 'NOS1AP', 'score': 0.18}, {'connected_gene': 'GC01P162033', 'score': 0.14}]
chr1	GH01I162161	162161491	162162746	0.38	[{'connected_gene': 'C1orf226', 'score': 14.99}, {'connected_gene': 'SPATA46', 'score': 9.7}, {'connected_gene': 'MIR4654', 'score': 0.44}, {'connected_gene': 'LOC105371475', 'score': 0.39}, {'connected_gene': 'NOS1AP', 'score': 0.16}]
chr1	GH01I162147	162147409	162148484	0.72	[{'connected_gene': 'C1orf226', 'score': 16.12}, {'connected_gene': 'SPATA46', 'score': 9.97}, {'connected_gene': 'MIR4654', 'score': 0.44}, {'connected_gene': 'LOC105371475', 'score': 0.31}, {'connected_gene': 'GC01M162031', 'score': 0.2}, {'connected_gene': 'NOS1AP', 'score': 0.18}, {'connected_gene': 'GC01P162033', 'score': 0.14}]
chr1	GH01I162163	162163359	162164655	0.46	[{'connected_gene': 'C1orf226', 'score': 9.71}, {'connected_gene': 'SPATA46', 'score': 9.7}, {'connected_gene': 'MIR4654', 'score': 0.44}, {'connected_gene': 'LOC105371475', 'score': 0.39}, {'connected_gene': 'NOS1AP', 'score': 0.16}]
chr1	GH01I162131	162131094	162133054	1.08	[{'connected_gene': 'C1orf226', 'score': 16.69}, {'connected_gene': 'OLFML2B', 'score': 10.47}, {'connected_gene': 'SPATA46', 'score': 9.97}, {'connected_gene': 'MIR4654', 'score': 0.31}, {'connected_gene': 'LOC105371475', 'score': 0.26}, {'connected_gene': 'GC01M162031', 'score': 0.23}, {'connected_gene': 'NOS1AP', 'score': 0.21}, {'connected_gene': 'GC01P162033', 'score': 0.15}]
chr1	GH01I162248	162248537	162249587	0.56	[{'connected_gene': 'C1orf226', 'score': 14.17}, {'connected_gene': 'ENSG00000227094', 'score': 11.05}, {'connected_gene': 'SH2D1B', 'score': 9.79}, {'connected_gene': 'SPATA46', 'score': 9.66}, {'connected_gene': 'LOC105371475', 'score': 0.19}, {'connected_gene': 'NOS1AP', 'score': 0.1}]
chr1	GH01I162380	162380078	162384149	1.55	[{'connected_gene': 'C1orf226', 'score': 568.1}, {'connected_gene': 'SH2D1B', 'score': 10.99}, {'connected_gene': 'UHMK1', 'score': 5.6}, {'connected_gene': 'RGS4', 'score': 5.05}, {'connected_gene': 'SPATA46', 'score': 0.44}, {'connected_gene': 'ENSG00000254706', 'score': 0.37}]
chr1	GH01I162151	162151703	162153230	1.19	[{'connected_gene': 'USP21', 'score': 20.8}, {'connected_gene': 'PPOX', 'score': 18.85}, {'connected_gene': 'C1orf226', 'score': 17.24}, {'connected_gene': 'B4GALT3', 'score': 13.09}, {'connected_gene': 'ATF6', 'score': 12.39}, {'connected_gene': 'DUSP12', 'score': 12.13}, {'connected_gene': 'LOC148430', 'score': 11.55}, {'connected_gene': 'SPATA46', 'score': 9.97}, {'connected_gene': 'MIR4654', 'score': 0.77}, {'connected_gene': 'LOC105371475', 'score': 0.34}, {'connected_gene': 'GC01M162031', 'score': 0.19}, {'connected_gene': 'NOS1AP', 'score': 0.18}]
chr1	GH01I162371	162371211	162374907	0.96	[{'connected_gene': 'SPATA46', 'score': 12.75}, {'connected_gene': 'C1orf226', 'score': 7.2}, {'connected_gene': 'NOS1AP', 'score': 4.29}, {'connected_gene': 'ENSG00000254706', 'score': 0.44}]
chr1	GH01I162423	162423151	162423300	0.66	[{'connected_gene': 'SPATA46', 'score': 10.48}, {'connected_gene': 'C1orf226', 'score': 10.45}, {'connected_gene': 'SLAMF6P1', 'score': 6.27}, {'connected_gene': 'LOC105373471', 'score': 0.77}]
chr1	GH01I162376	162376817	162376876	0.61	[{'connected_gene': 'SPATA46', 'score': 550.77}, {'connected_gene': 'C1orf226', 'score': 0.44}, {'connected_gene': 'ENSG00000254706', 'score': 0.39}]
chr1	GH01I162391	162391252	162392580	1.1	[{'connected_gene': 'UHMK1', 'score': 5.76}, {'connected_gene': 'SPATA46', 'score': 0.39}, {'connected_gene': 'SH2D1B', 'score': 0.34}]
chr1	GH01I162411	162411613	162412700	0.93	[{'connected_gene': 'SH2D1B', 'score': 550.77}, {'connected_gene': 'SPATA46', 'score': 10.47}, {'connected_gene': 'C1orf226', 'score': 10.44}, {'connected_gene': 'SLAMF6P1', 'score': 6.09}, {'connected_gene': 'LOC105373471', 'score': 0.44}]
chr1	GH01I162400	162400891	162401154	0.34	[{'connected_gene': 'SH2D1B', 'score': 9.05}, {'connected_gene': 'SPATA46', 'score': 0.34}]
chr1	GH01I162408	162408009	162408092	0.34	[{'connected_gene': 'SH2D1B', 'score': 8.09}, {'connected_gene': 'HSD17B7', 'score': 1.21}, {'connected_gene': 'SPATA46', 'score': 0.29}]
chr1	GH01I162421	162421181	162422540	0.83	[{'connected_gene': 'LOC105373471', 'score': 550.77}, {'connected_gene': 'SPATA46', 'score': 10.5}, {'connected_gene': 'C1orf226', 'score': 10.46}, {'connected_gene': 'SLAMF6P1', 'score': 9.07}, {'connected_gene': 'UHMK1', 'score': 8.27}]
chr1	GH01I162418	162418883	162420477	0.83	[{'connected_gene': 'LOC105373471', 'score': 550.77}, {'connected_gene': 'UHMK1', 'score': 10.75}, {'connected_gene': 'SPATA46', 'score': 10.5}, {'connected_gene': 'C1orf226', 'score': 10.46}, {'connected_gene': 'SLAMF6P1', 'score': 8.71}, {'connected_gene': 'SH2D1B', 'score': 0.44}]
chr1	GH01I162404	162404580	162405580	0.56	[{'connected_gene': 'SLAMF6P1', 'score': 9.03}, {'connected_gene': 'C1orf226', 'score': 7.44}, {'connected_gene': 'SH2D1B', 'score': 0.44}, {'connected_gene': 'SPATA46', 'score': 0.31}]
chr1	GH01I162246	162246433	162248376	1.12	[{'connected_gene': 'ENSG00000227094', 'score': 11.03}, {'connected_gene': 'SH2D1B', 'score': 9.79}, {'connected_gene': 'SPATA46', 'score': 9.66}, {'connected_gene': 'C1orf226', 'score': 9.66}, {'connected_gene': 'NOS1AP', 'score': 1.53}, {'connected_gene': 'LOC105371475', 'score': 0.19}]
chr1	GH01I162249	162249912	162251504	0.63	[{'connected_gene': 'ENSG00000227094', 'score': 11.05}, {'connected_gene': 'SH2D1B', 'score': 9.79}, {'connected_gene': 'SPATA46', 'score': 9.66}, {'connected_gene': 'C1orf226', 'score': 9.66}, {'connected_gene': 'LOC105371475', 'score': 0.18}, {'connected_gene': 'NOS1AP', 'score': 0.09}]