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
ENST00000367929	[[162365055, 162367105], [162368712, 162368877], [162372528, 162372592], [162381672, 162381916]]	[[162367069, 162367105], [162368712, 162368877], [162372528, 162372592], [162381672, 162381806]]
ENST00000359567	[[162365372, 162367105], [162372528, 162372592], [162381672, 162381916]]	[[162367069, 162367105], [162372528, 162372592], [162381672, 162381806]]
ENST00000493550	[[162372266, 162372592], [162381672, 162381928]]	None
NM_053282	[[162365055, 162367105], [162368712, 162368877], [162372528, 162372592], [162381672, 162381928]]	[[162367069, 162367105], [162368712, 162368877], [162372528, 162372592], [162381672, 162381806]]

Promoter

Chrom	Start	End	Description
chr1	162381895	162381902	CAGE_peak_2_at_SH2D1B_5end
chr1	162381907	162381939	CAGE_peak_1_at_SH2D1B_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	GH01I162628	162628997	162635828	2.56	[{'connected_gene': 'DDR2', 'score': 552.24}, {'connected_gene': 'DUSP12', 'score': 9.87}, {'connected_gene': 'UHMK1', 'score': 9.87}, {'connected_gene': 'SH2D1B', 'score': 6.06}, {'connected_gene': 'RN7SL861P', 'score': 0.11}]
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	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	GH01I162391	162391252	162392580	1.1	[{'connected_gene': 'UHMK1', 'score': 5.76}, {'connected_gene': 'SPATA46', 'score': 0.39}, {'connected_gene': 'SH2D1B', 'score': 0.34}]
chr1	GH01I162536	162536111	162540483	1.1	[{'connected_gene': 'UHMK1', 'score': 27.84}, {'connected_gene': 'SH2D1B', 'score': 4.51}, {'connected_gene': 'UAP1', 'score': 3.13}, {'connected_gene': 'UQCRBP2', 'score': 0.77}, {'connected_gene': 'GC01P162525', 'score': 0.39}]
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	GH01I162547	162547671	162549329	0.75	[{'connected_gene': 'DUSP12', 'score': 11.43}, {'connected_gene': 'UHMK1', 'score': 9.3}, {'connected_gene': 'SH2D1B', 'score': 8.81}, {'connected_gene': 'HSD17B7', 'score': 2.16}, {'connected_gene': 'UQCRBP2', 'score': 0.44}, {'connected_gene': 'GC01M162560', 'score': 0.39}]
chr1	GH01I162625	162625147	162627621	1.02	[{'connected_gene': 'DUSP12', 'score': 18.39}, {'connected_gene': 'ENSG00000272574', 'score': 10.95}, {'connected_gene': 'SH2D1B', 'score': 5.24}, {'connected_gene': 'DDR2', 'score': 0.77}, {'connected_gene': 'GC01P162613', 'score': 0.39}]
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	GH01I162612	162612338	162614244	1.18	[{'connected_gene': 'GC01P162613', 'score': 550.77}, {'connected_gene': 'SH2D1B', 'score': 4.8}, {'connected_gene': 'DDR2', 'score': 0.37}]
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}]