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
ENST00000395422	[[56169261, 56169554], [56170559, 56170704], [56171918, 56172168], [56174056, 56174269]]	[[56169543, 56169554], [56170559, 56170704], [56171918, 56172168], [56174056, 56174106]]
ENST00000473095	[[56170328, 56170704], [56171918, 56172168], [56174056, 56174124]]	None
NM_001320327	[[56169254, 56169554], [56170555, 56170704], [56171918, 56172168], [56174056, 56174323]]	[[56169496, 56169554], [56170555, 56170704], [56171918, 56172168], [56174056, 56174106]]
NM_016139	[[56169254, 56169554], [56170559, 56170704], [56171918, 56172168], [56174056, 56174323]]	[[56169543, 56169554], [56170559, 56170704], [56171918, 56172168], [56174056, 56174106]]

Promoter

Chrom	Start	End	Description
chr7	56174144	56174155	CAGE_peak_2_at_CHCHD2_5end
chr7	56174161	56174203	CAGE_peak_1_at_CHCHD2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
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	GH07I056091	56091499	56093653	1.32	[{'connected_gene': 'PHKG1', 'score': 550.77}, {'connected_gene': 'CHCHD2', 'score': 28.18}, {'connected_gene': 'NIPSNAP2', 'score': 26.9}, {'connected_gene': 'SUMF2', 'score': 21.16}, {'connected_gene': 'MRPS17', 'score': 10.93}, {'connected_gene': 'PSPHP1', 'score': 8.34}]
chr7	GH07I055641	55641308	55641697	0.74	[{'connected_gene': 'MRPS17', 'score': 10.94}, {'connected_gene': 'NIPSNAP2', 'score': 10.94}, {'connected_gene': 'CHCHD2', 'score': 5.32}, {'connected_gene': 'CDC42P2', 'score': 0.77}, {'connected_gene': 'TUBBP6', 'score': 0.77}]
chr7	GH07I056100	56100989	56101236	0.39	[{'connected_gene': 'MRPS17', 'score': 10.1}, {'connected_gene': 'NIPSNAP2', 'score': 10.1}, {'connected_gene': 'ZNF713', 'score': 3.07}, {'connected_gene': 'PHKG1', 'score': 0.44}, {'connected_gene': 'CHCHD2', 'score': 0.44}]
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	GH07I056082	56082708	56082929	0.2	[{'connected_gene': 'CHCHD2', 'score': 15.92}, {'connected_gene': 'MRPS17', 'score': 10.61}, {'connected_gene': 'NIPSNAP2', 'score': 10.61}, {'connected_gene': 'PHKG1', 'score': 0.39}, {'connected_gene': 'SUMF2', 'score': 0.37}]
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	GH07I056104	56104955	56108123	2.33	[{'connected_gene': 'CHCHD2', 'score': 579.47}, {'connected_gene': 'SUMF2', 'score': 30.53}, {'connected_gene': 'LOC154937', 'score': 26.4}, {'connected_gene': 'CCT6A', 'score': 13.38}, {'connected_gene': 'NIPSNAP2', 'score': 12.53}, {'connected_gene': 'PSPHP1', 'score': 11.16}, {'connected_gene': 'ZNF713', 'score': 7.74}, {'connected_gene': 'PHKG1', 'score': 0.39}]
chr7	GH07I056897	56897853	56899781	0.2	[{'connected_gene': 'CHCHD2', 'score': 4.63}, {'connected_gene': 'LOC100130849', 'score': 0.37}, {'connected_gene': 'PIR50988', 'score': 0.34}]
chr7	GH07I055886	55886801	55888601	1.87	[{'connected_gene': 'ZNF713', 'score': 564.47}, {'connected_gene': 'ENSG00000249773', 'score': 550.77}, {'connected_gene': 'CHCHD2', 'score': 15.77}, {'connected_gene': 'SUMF2', 'score': 14.38}, {'connected_gene': 'GC07P055892', 'score': 0.44}]
chr7	GH07I055970	55970208	55971898	0.46	[{'connected_gene': 'ZNF713', 'score': 20.35}, {'connected_gene': 'SUMF2', 'score': 15.51}, {'connected_gene': 'NIPSNAP2', 'score': 12.62}, {'connected_gene': 'CHCHD2', 'score': 12.31}, {'connected_gene': 'PHKG1', 'score': 11.07}, {'connected_gene': 'PSPHP1', 'score': 10.14}, {'connected_gene': 'MRPS17', 'score': 0.37}, {'connected_gene': 'PIR39528', 'score': 0.34}]
chr7	GH07I055951	55951248	55952801	2.01	[{'connected_gene': 'NIPSNAP2', 'score': 561.16}, {'connected_gene': 'MRPS17', 'score': 550.77}, {'connected_gene': 'SUMF2', 'score': 16.18}, {'connected_gene': 'CHCHD2', 'score': 15.72}, {'connected_gene': 'ZNF713', 'score': 13.98}, {'connected_gene': 'PIR39528', 'score': 0.26}, {'connected_gene': 'ENSG00000249773', 'score': 0.21}]
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	GH07I055963	55963419	55967284	1.95	[{'connected_gene': 'NIPSNAP2', 'score': 562.55}, {'connected_gene': 'ZNF713', 'score': 19.1}, {'connected_gene': 'SUMF2', 'score': 15.01}, {'connected_gene': 'CHCHD2', 'score': 12.46}, {'connected_gene': 'PSPHP1', 'score': 8.35}, {'connected_gene': 'MRPS17', 'score': 0.39}, {'connected_gene': 'PIR39528', 'score': 0.31}]
chr7	GH07I056078	56078977	56080833	0.9	[{'connected_gene': 'NIPSNAP2', 'score': 23.2}, {'connected_gene': 'SUMF2', 'score': 19.88}, {'connected_gene': 'CHCHD2', 'score': 15.84}, {'connected_gene': 'PSPHP1', 'score': 12.29}, {'connected_gene': 'MRPS17', 'score': 10.62}, {'connected_gene': 'PHKG1', 'score': 0.39}]
chr7	GH07I056083	56083228	56083973	0.49	[{'connected_gene': 'SUMF2', 'score': 21.31}, {'connected_gene': 'CHCHD2', 'score': 15.92}, {'connected_gene': 'MRPS17', 'score': 10.61}, {'connected_gene': 'NIPSNAP2', 'score': 10.61}, {'connected_gene': 'PHKG1', 'score': 0.44}]
chr7	GH07I056097	56097463	56098205	0.69	[{'connected_gene': 'SUMF2', 'score': 21.14}, {'connected_gene': 'NIPSNAP2', 'score': 12.09}, {'connected_gene': 'PHKG1', 'score': 0.77}, {'connected_gene': 'CHCHD2', 'score': 0.44}]
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}]
chr7	GH07I056538	56538664	56538809	0.25	[{'connected_gene': 'LOC101928401', 'score': 550.77}, {'connected_gene': 'CHCHD2', 'score': 11.71}, {'connected_gene': 'NUPR2', 'score': 2.84}, {'connected_gene': 'VN1R25P', 'score': 0.34}]