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
ENST00000437355	[[56078743, 56078926], [56079236, 56079562], [56082715, 56082864], [56084926, 56085072], [56087292, 56087427], [56088765, 56088924], [56118830, 56119141]]	[[56079454, 56079562], [56082715, 56082864], [56084926, 56085072], [56087292, 56087427], [56088765, 56088905]]
ENST00000275605	[[56078759, 56079562], [56082715, 56082864], [56084926, 56085072], [56087292, 56087427], [56088765, 56088924], [56099621, 56099747], [56101653, 56101799], [56118830, 56119297]]	[[56079454, 56079562], [56082715, 56082864], [56084926, 56085072], [56087292, 56087427], [56088765, 56088905]]
ENST00000395471	[[56078760, 56079562], [56082715, 56082864], [56084926, 56085072], [56087292, 56087427], [56088765, 56088924], [56099621, 56099747], [56101653, 56101847], [56118830, 56119297]]	[[56079454, 56079562], [56082715, 56082864], [56084926, 56085072], [56087292, 56087427], [56088765, 56088905]]
ENST00000459834	[[56079230, 56079562], [56082715, 56082864], [56101653, 56101864]]	None
ENST00000421626	[[56082723, 56082864], [56084926, 56085072], [56087292, 56087427], [56088765, 56088924], [56099621, 56099670], [56101653, 56101849]]	[[56082723, 56082864], [56084926, 56085072], [56087292, 56087427], [56088765, 56088905]]
ENST00000427797	[[56084969, 56085072], [56087292, 56087501], [56088765, 56088924], [56099621, 56099747], [56101653, 56101865]]	[[56087368, 56087501], [56088765, 56088905]]
ENST00000419984	[[56088765, 56088924], [56099621, 56099747], [56101073, 56101187], [56101653, 56101847], [56118830, 56118981]]	[[56088765, 56088905]]
ENST00000421312	[[56088765, 56088924], [56099621, 56099747], [56101653, 56101847], [56119006, 56119160]]	[[56088765, 56088905]]
ENST00000424596	[[56088873, 56088924], [56099621, 56099670], [56101653, 56101799], [56118830, 56119139]]	[[56088873, 56088905]]
ENST00000413218	[[56088898, 56088924], [56099621, 56099747], [56101653, 56101847], [56110840, 56110954], [56119006, 56119085]]	[[56088898, 56088905]]
ENST00000416592	[[56088898, 56088924], [56099621, 56099747], [56101073, 56101187], [56101653, 56101796], [56118830, 56119160]]	[[56088898, 56088905]]
ENST00000472276	[[56100826, 56101187], [56101653, 56101864]]	None
NM_004577	[[56078743, 56079562], [56082715, 56082864], [56084926, 56085072], [56087292, 56087427], [56088765, 56088924], [56099621, 56099747], [56101653, 56101799], [56118830, 56119268]]	[[56079454, 56079562], [56082715, 56082864], [56084926, 56085072], [56087292, 56087427], [56088765, 56088905]]

Promoter

Chrom	Start	End	Description
chr7	56101826	56101878	CAGE_peak_1_at_PSPH_5end
chr7	56101880	56101907	CAGE_peak_4_at_PSPH_5end
chr7	56119096	56119152	CAGE_peak_2_at_PSPH_5end
chr7	56119156	56119163	CAGE_peak_6_at_PSPH_5end
chr7	56119238	56119302	CAGE_peak_3_at_PSPH_5end
chr7	56184054	56184091	CAGE_peak_5_at_PSPH_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr7	GH07I056019	56019559	56020850	0.2	[{'connected_gene': 'PSPHP1', 'score': 22.18}, {'connected_gene': 'SUMF2', 'score': 14.9}, {'connected_gene': 'PHKG1', 'score': 10.88}, {'connected_gene': 'PIR39528', 'score': 0.31}, {'connected_gene': 'PSPH', 'score': 0.29}]
chr7	GH07I056049	56049862	56054191	2.07	[{'connected_gene': 'PSPH', 'score': 556.91}, {'connected_gene': 'CCT6A', 'score': 550.77}, {'connected_gene': 'CHCHD2', 'score': 25.86}, {'connected_gene': 'SUMF2', 'score': 21.28}, {'connected_gene': 'NIPSNAP2', 'score': 19.53}, {'connected_gene': 'LOC154937', 'score': 12.1}, {'connected_gene': 'PSPHP1', 'score': 11.8}, {'connected_gene': 'PIR60303', 'score': 0.77}, {'connected_gene': 'GC07P056054', 'score': 0.77}]
chr7	GH07I056031	56031232	56035211	2.2	[{'connected_gene': 'PSPH', 'score': 550.37}, {'connected_gene': 'SUMF2', 'score': 16.52}, {'connected_gene': 'NIPSNAP2', 'score': 8.65}, {'connected_gene': 'PSPHP1', 'score': 5.77}, {'connected_gene': 'ZNF713', 'score': 4.36}, {'connected_gene': 'PIR39528', 'score': 0.26}]
chr7	GH07I056046	56046136	56049066	0.79	[{'connected_gene': 'CHCHD2', 'score': 25.73}, {'connected_gene': 'PSPH', 'score': 6.97}, {'connected_gene': 'PIR39528', 'score': 0.23}]
chr7	GH07I056027	56027709	56030927	0.84	[{'connected_gene': 'CHCHD2', 'score': 25.6}, {'connected_gene': 'SUMF2', 'score': 14.64}, {'connected_gene': 'PHKG1', 'score': 11.52}, {'connected_gene': 'PSPHP1', 'score': 11.46}, {'connected_gene': 'NIPSNAP2', 'score': 9.87}, {'connected_gene': 'ZNF713', 'score': 5.61}, {'connected_gene': 'PSPH', 'score': 0.34}, {'connected_gene': 'PIR39528', 'score': 0.28}]
chr7	GH07I055999	55999490	56000918	1.07	[{'connected_gene': 'NIPSNAP2', 'score': 23.57}, {'connected_gene': 'CHCHD2', 'score': 12.51}, {'connected_gene': 'PHKG1', 'score': 11.41}, {'connected_gene': 'MRPS17', 'score': 11.28}, {'connected_gene': 'SUMF2', 'score': 5.42}, {'connected_gene': 'PIR39528', 'score': 0.44}, {'connected_gene': 'PSPH', 'score': 0.23}]
chr7	GH07I055996	55996419	55997834	0.82	[{'connected_gene': 'NIPSNAP2', 'score': 20.45}, {'connected_gene': 'ZNF713', 'score': 20.31}, {'connected_gene': 'CHCHD2', 'score': 12.48}, {'connected_gene': 'MRPS17', 'score': 11.42}, {'connected_gene': 'PHKG1', 'score': 11.4}, {'connected_gene': 'PIR39528', 'score': 0.77}, {'connected_gene': 'PSPH', 'score': 0.23}]
chr7	GH07I056004	56004330	56011082	1.16	[{'connected_gene': 'NIPSNAP2', 'score': 22.25}, {'connected_gene': 'SUMF2', 'score': 21.39}, {'connected_gene': 'CCT6A', 'score': 12.45}, {'connected_gene': 'PHKG1', 'score': 11.67}, {'connected_gene': 'LOC154937', 'score': 11.38}, {'connected_gene': 'MRPS17', 'score': 11.06}, {'connected_gene': 'PSPHP1', 'score': 11.04}, {'connected_gene': 'ZNF713', 'score': 6.48}, {'connected_gene': 'NUPR2', 'score': 5.42}, {'connected_gene': 'PIR39528', 'score': 0.37}, {'connected_gene': 'PSPH', 'score': 0.26}]
chr7	GH07I056059	56059583	56065784	2.01	[{'connected_gene': 'SUMF2', 'score': 571.66}, {'connected_gene': 'NIPSNAP2', 'score': 24.79}, {'connected_gene': 'CHCHD2', 'score': 16.34}, {'connected_gene': 'PHKG1', 'score': 11.42}, {'connected_gene': 'PSPHP1', 'score': 11.14}, {'connected_gene': 'MRPS17', 'score': 10.21}, {'connected_gene': 'PSPH', 'score': 6.21}, {'connected_gene': 'SNORA15', 'score': 0.77}, {'connected_gene': 'GC07P056082', 'score': 0.77}, {'connected_gene': 'CCT6A', 'score': 0.39}]