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
ENST00000332556	[[113951555, 113951810], [113960799, 113960921], [113963957, 113964177], [113965023, 113965182], [113973783, 113973971], [113974659, 113974785], [113975718, 113975785], [113975871, 113976042], [113976596, 113977987]]	[[113951749, 113951810], [113960799, 113960921], [113963957, 113964177], [113965023, 113965182], [113973783, 113973971], [113974659, 113974785], [113975718, 113975785], [113975871, 113976042], [113976596, 113976736]]
ENST00000397181	[[113951699, 113951810], [113960799, 113960921], [113963957, 113964177], [113973783, 113973971], [113974659, 113974785], [113975718, 113975785], [113975871, 113976042], [113976596, 113977032]]	[[113951749, 113951810], [113960799, 113960921], [113963957, 113964177], [113973783, 113973971], [113974659, 113974785], [113975718, 113975785], [113975871, 113976042], [113976596, 113976736]]
ENST00000472564	[[113959246, 113960921], [113963957, 113964177], [113965023, 113965182], [113973783, 113973971], [113974659, 113975785], [113975871, 113977745]]	None
ENST00000471046	[[113976081, 113976192], [113976596, 113976909]]	None
NM_005561	[[113951468, 113951810], [113960799, 113960921], [113963957, 113964177], [113965023, 113965182], [113973783, 113973971], [113974659, 113974785], [113975718, 113975785], [113975871, 113976042], [113976596, 113977741]]	[[113951749, 113951810], [113960799, 113960921], [113963957, 113964177], [113965023, 113965182], [113973783, 113973971], [113974659, 113974785], [113975718, 113975785], [113975871, 113976042], [113976596, 113976736]]

Promoter

Chrom	Start	End	Description
chr13	113951188	113951191	CAGE_peak_21_at_LAMP1_5end
chr13	113951515	113951526	CAGE_peak_3_at_LAMP1_5end
chr13	113951532	113951594	CAGE_peak_1_at_LAMP1_5end
chr13	113951607	113951618	CAGE_peak_2_at_LAMP1_5end
chr13	113963951	113964005	CAGE_peak_4_at_LAMP1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr13	GH13I113182	113182982	113189499	1.4	[{'connected_gene': 'PROZ', 'score': 26.95}, {'connected_gene': 'PCID2', 'score': 11.9}, {'connected_gene': 'CUL4A', 'score': 11.9}, {'connected_gene': 'F10-AS1', 'score': 11.03}, {'connected_gene': 'KARSP2', 'score': 11.03}, {'connected_gene': 'F10', 'score': 11.02}, {'connected_gene': 'GRTP1', 'score': 10.68}, {'connected_gene': 'F7', 'score': 10.66}, {'connected_gene': 'LAMP1', 'score': 10.6}, {'connected_gene': 'ENSG00000269356', 'score': 6.33}, {'connected_gene': 'ENSG00000269125', 'score': 0.34}, {'connected_gene': 'GC13M113076', 'score': 0.06}]
chr13	GH13I113190	113190206	113191457	0.31	[{'connected_gene': 'PROZ', 'score': 26.73}, {'connected_gene': 'F10-AS1', 'score': 11.02}, {'connected_gene': 'KARSP2', 'score': 11.02}, {'connected_gene': 'F10', 'score': 11.01}, {'connected_gene': 'LAMP1', 'score': 10.61}, {'connected_gene': 'GRTP1-AS1', 'score': 10.6}, {'connected_gene': 'GRTP1', 'score': 10.6}, {'connected_gene': 'PCID2', 'score': 0.37}, {'connected_gene': 'CUL4A', 'score': 0.37}, {'connected_gene': 'ENSG00000269125', 'score': 0.31}, {'connected_gene': 'GC13M113076', 'score': 0.05}]
chr13	GH13I113192	113192491	113194481	0.74	[{'connected_gene': 'PROZ', 'score': 22.95}, {'connected_gene': 'GRTP1-AS1', 'score': 10.61}, {'connected_gene': 'GRTP1', 'score': 10.6}, {'connected_gene': 'LAMP1', 'score': 10.45}, {'connected_gene': 'DCUN1D2-AS', 'score': 9.41}, {'connected_gene': 'DCUN1D2', 'score': 9.41}, {'connected_gene': 'CUL4A', 'score': 0.39}, {'connected_gene': 'PCID2', 'score': 0.37}, {'connected_gene': 'ENSG00000269125', 'score': 0.31}, {'connected_gene': 'GC13M113076', 'score': 0.05}]
chr13	GH13I113390	113390726	113391665	0.54	[{'connected_gene': 'GRTP1', 'score': 16.62}, {'connected_gene': 'GRTP1-AS1', 'score': 11.26}, {'connected_gene': 'LAMP1', 'score': 11.16}, {'connected_gene': 'PIR34234', 'score': 0.44}, {'connected_gene': 'GC13M113076', 'score': 0.13}]
chr13	GH13I113232	113232063	113233245	0.52	[{'connected_gene': 'PCID2', 'score': 16.78}, {'connected_gene': 'PROZ', 'score': 13.5}, {'connected_gene': 'CUL4A', 'score': 11.81}, {'connected_gene': 'LAMP1', 'score': 10.6}, {'connected_gene': 'PIR53444', 'score': 0.39}, {'connected_gene': 'GC13M113076', 'score': 0.06}]
chr13	GH13I113206	113206329	113211354	2.33	[{'connected_gene': 'PCID2', 'score': 621.79}, {'connected_gene': 'CUL4A', 'score': 550.77}, {'connected_gene': 'TUBGCP3', 'score': 88.5}, {'connected_gene': 'PROZ', 'score': 26.44}, {'connected_gene': 'GAS6-AS1', 'score': 19.71}, {'connected_gene': 'GAS6', 'score': 12.12}, {'connected_gene': 'LAMP1', 'score': 10.22}, {'connected_gene': 'GC13M113076', 'score': 0.06}]
chr13	GH13I113507	113507472	113508848	0.84	[{'connected_gene': 'TMCO3', 'score': 32.37}, {'connected_gene': 'DCUN1D2-AS', 'score': 11.52}, {'connected_gene': 'DCUN1D2', 'score': 5.8}, {'connected_gene': 'LAMP1', 'score': 1.63}, {'connected_gene': 'ENSG00000276916', 'score': 0.77}, {'connected_gene': 'GC13M113076', 'score': 0.39}]
chr13	GH13I113296	113296400	113298987	2.14	[{'connected_gene': 'LAMP1', 'score': 550.77}, {'connected_gene': 'CDC16', 'score': 76.98}, {'connected_gene': 'PCID2', 'score': 69.41}, {'connected_gene': 'TUBGCP3', 'score': 66.69}, {'connected_gene': 'UPF3A', 'score': 22.46}, {'connected_gene': 'GAS6-AS2', 'score': 12.64}, {'connected_gene': 'GAS6', 'score': 12.12}, {'connected_gene': 'CUL4A', 'score': 11.08}, {'connected_gene': 'GAS6-AS1', 'score': 10.6}, {'connected_gene': 'DCUN1D2-AS', 'score': 10.05}, {'connected_gene': 'GC13P113323', 'score': 0.34}, {'connected_gene': 'PIR60275', 'score': 0.34}, {'connected_gene': 'GC13M113076', 'score': 0.07}]
chr13	GH13I113272	113272531	113275875	1.36	[{'connected_gene': 'LAMP1', 'score': 17.68}, {'connected_gene': 'PROZ', 'score': 15.87}, {'connected_gene': 'CUL4A', 'score': 11.96}, {'connected_gene': 'GRTP1', 'score': 11.29}, {'connected_gene': 'PCID2', 'score': 10.8}, {'connected_gene': 'DCUN1D2-AS', 'score': 10.32}, {'connected_gene': 'DCUN1D2', 'score': 10.31}, {'connected_gene': 'LDHBP1', 'score': 0.77}, {'connected_gene': 'LOC105370377', 'score': 0.44}, {'connected_gene': 'GC13M113076', 'score': 0.07}]
chr13	GH13I113224	113224348	113224804	0.58	[{'connected_gene': 'LAMP1', 'score': 11.24}, {'connected_gene': 'PROZ', 'score': 10.4}, {'connected_gene': 'F10-AS1', 'score': 10.27}, {'connected_gene': 'KARSP2', 'score': 10.27}, {'connected_gene': 'F10', 'score': 10.25}, {'connected_gene': 'PCID2', 'score': 0.37}, {'connected_gene': 'PIR53444', 'score': 0.37}, {'connected_gene': 'CUL4A', 'score': 0.37}, {'connected_gene': 'GC13M113076', 'score': 0.06}]
chr13	GH13I113291	113291289	113293557	0.93	[{'connected_gene': 'LAMP1', 'score': 0.77}, {'connected_gene': 'LDHBP1', 'score': 0.37}, {'connected_gene': 'GC13M113076', 'score': 0.07}]
chr13	GH13I113299	113299526	113300800	1.08	[{'connected_gene': 'LAMP1', 'score': 0.77}, {'connected_gene': 'GC13P113323', 'score': 0.34}, {'connected_gene': 'PIR60275', 'score': 0.34}, {'connected_gene': 'GC13M113076', 'score': 0.07}]
chr13	GH13I113304	113304585	113305955	0.46	[{'connected_gene': 'GRTP1-AS1', 'score': 12.16}, {'connected_gene': 'GRTP1', 'score': 12.13}, {'connected_gene': 'PROZ', 'score': 10.07}, {'connected_gene': 'DCUN1D2-AS', 'score': 9.81}, {'connected_gene': 'DCUN1D2', 'score': 9.8}, {'connected_gene': 'LAMP1', 'score': 0.44}, {'connected_gene': 'GC13P113323', 'score': 0.37}, {'connected_gene': 'PIR60275', 'score': 0.37}, {'connected_gene': 'GC13M113076', 'score': 0.08}]
chr13	GH13I113327	113327086	113328359	0.54	[{'connected_gene': 'GRTP1-AS1', 'score': 13.19}, {'connected_gene': 'GRTP1', 'score': 13.12}, {'connected_gene': 'LAMP1', 'score': 11.82}, {'connected_gene': 'F7', 'score': 10.3}, {'connected_gene': 'DCUN1D2', 'score': 10.04}, {'connected_gene': 'DCUN1D2-AS', 'score': 9.82}, {'connected_gene': 'GC13P113323', 'score': 0.44}, {'connected_gene': 'PIR60275', 'score': 0.44}, {'connected_gene': 'ENSG00000276434', 'score': 0.39}, {'connected_gene': 'GC13M113076', 'score': 0.08}]
chr13	GH13I114167	114167537	114168447	0.38	[{'connected_gene': 'PIR41654', 'score': 550.77}, {'connected_gene': 'PCID2', 'score': 11.94}, {'connected_gene': 'GAS6-AS1', 'score': 10.87}, {'connected_gene': 'LAMP1', 'score': 10.08}, {'connected_gene': 'CFAP97D2', 'score': 0.77}]
chr13	GH13I113314	113314986	113315135	0.49	[{'connected_gene': 'GC13P113323', 'score': 0.44}, {'connected_gene': 'PIR60275', 'score': 0.44}, {'connected_gene': 'LAMP1', 'score': 0.37}, {'connected_gene': 'GC13M113076', 'score': 0.08}]
chr13	GH13I113322	113322390	113322560	0.31	[{'connected_gene': 'GC13P113323', 'score': 550.77}, {'connected_gene': 'PIR60275', 'score': 550.77}, {'connected_gene': 'LAMP1', 'score': 0.31}, {'connected_gene': 'GC13M113076', 'score': 0.08}]