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
ENST00000372808	[[42928495, 42928711], [42929949, 42930077], [42930499, 42930616], [42930809, 42930952], [42931065, 42931187], [42931272, 42931618]]	[[42928505, 42928711], [42929949, 42930077], [42930499, 42930616], [42930809, 42930952], [42931065, 42931187], [42931272, 42931444]]
NR_134899	[[42928491, 42928711], [42929949, 42930077], [42930499, 42930616], [42931065, 42931187], [42931272, 42931618]]	None
NM_001318865	[[42928491, 42928711], [42929949, 42930077], [42930499, 42930616], [42930866, 42930952], [42931065, 42931187], [42931272, 42931618]]	[[42928505, 42928711], [42929949, 42930077], [42930499, 42930616], [42930866, 42930952], [42931065, 42931187], [42931272, 42931444]]
NM_018960	[[42928491, 42928711], [42929949, 42930077], [42930499, 42930616], [42930809, 42930952], [42931065, 42931187], [42931272, 42931618]]	[[42928505, 42928711], [42929949, 42930077], [42930499, 42930616], [42930809, 42930952], [42931065, 42931187], [42931272, 42931444]]

Promoter

Chrom	Start	End	Description
chr6	42928485	42928496	CAGE_peak_1_at_GNMT_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr6	GH06I042040	42040854	42051803	2.8	[{'connected_gene': 'CCND3', 'score': 561.62}, {'connected_gene': 'TAF8', 'score': 559.04}, {'connected_gene': 'PIR49026', 'score': 550.77}, {'connected_gene': 'ENSG00000124593', 'score': 18.84}, {'connected_gene': 'RNU6-761P', 'score': 11.51}, {'connected_gene': 'ENSG00000207371', 'score': 11.44}, {'connected_gene': 'MED20', 'score': 11.44}, {'connected_gene': 'BYSL', 'score': 11.43}, {'connected_gene': 'FRS3', 'score': 11.27}, {'connected_gene': 'PRICKLE4', 'score': 11.26}, {'connected_gene': 'USP49', 'score': 11.2}, {'connected_gene': 'TOMM6', 'score': 10.98}, {'connected_gene': 'ENSG00000206977', 'score': 10.3}, {'connected_gene': 'GNMT', 'score': 5.56}, {'connected_gene': 'TRERF1', 'score': 2.67}, {'connected_gene': 'TFEB', 'score': 2.15}]
chr6	GH06I042769	42769930	42772897	1.53	[{'connected_gene': 'TBCC', 'score': 22.04}, {'connected_gene': 'CUL7', 'score': 11.86}, {'connected_gene': 'RPL7L1', 'score': 11.13}, {'connected_gene': 'CUL9', 'score': 10.91}, {'connected_gene': 'ABCC10', 'score': 10.37}, {'connected_gene': 'TRERF1', 'score': 9.15}, {'connected_gene': 'C6orf226', 'score': 6.24}, {'connected_gene': 'PRPH2', 'score': 5.91}, {'connected_gene': 'BICRAL', 'score': 4.95}, {'connected_gene': 'GNMT', 'score': 4.72}, {'connected_gene': 'UBR2', 'score': 3.23}, {'connected_gene': 'CNPY3', 'score': 1.61}, {'connected_gene': 'LOC401261', 'score': 0.39}, {'connected_gene': 'PIR49302', 'score': 0.34}]
chr6	GH06I042977	42977872	42980808	2.08	[{'connected_gene': 'PEX6', 'score': 641.3}, {'connected_gene': 'POLH', 'score': 27.95}, {'connected_gene': 'RRP36', 'score': 22.55}, {'connected_gene': 'GTPBP2', 'score': 22.1}, {'connected_gene': 'ZNF318', 'score': 17.86}, {'connected_gene': 'XPO5', 'score': 13.85}, {'connected_gene': 'RPS2P29', 'score': 13.82}, {'connected_gene': 'POLR1C', 'score': 13.45}, {'connected_gene': 'ENSG00000271754', 'score': 10.49}, {'connected_gene': 'DNPH1', 'score': 8.18}, {'connected_gene': 'GNMT', 'score': 4.72}, {'connected_gene': 'CUL7', 'score': 4.64}, {'connected_gene': 'PPP2R5D', 'score': 0.44}, {'connected_gene': 'MEA1', 'score': 0.28}]
chr6	GH06I042942	42942234	42944706	0.68	[{'connected_gene': 'PEX6', 'score': 23.1}, {'connected_gene': 'DNPH1', 'score': 6.22}, {'connected_gene': 'ENSG00000231113', 'score': 5.32}, {'connected_gene': 'GNMT', 'score': 0.77}, {'connected_gene': 'RPL24P4', 'score': 0.39}]
chr6	GH06I042956	42956401	42956800	0.5	[{'connected_gene': 'RPL24P4', 'score': 550.77}, {'connected_gene': 'PEX6', 'score': 108.25}, {'connected_gene': 'PPP2R5D', 'score': 11.45}, {'connected_gene': 'RN7SL403P', 'score': 10.91}, {'connected_gene': 'KLC4', 'score': 10.9}, {'connected_gene': 'CUL7', 'score': 10.88}, {'connected_gene': 'KLHDC3', 'score': 10.87}, {'connected_gene': 'MEA1', 'score': 10.86}, {'connected_gene': 'RPL7L1', 'score': 10.17}, {'connected_gene': 'RNU6-890P', 'score': 9.74}, {'connected_gene': 'GNMT', 'score': 0.37}, {'connected_gene': 'ENSG00000231113', 'score': 0.37}]
chr6	GH06I042132	42132775	42134501	0.54	[{'connected_gene': 'GUCA1A', 'score': 12.49}, {'connected_gene': 'ENSG00000214732', 'score': 12.49}, {'connected_gene': 'GNMT', 'score': 4.96}, {'connected_gene': 'GC06P042354', 'score': 0.77}, {'connected_gene': 'C6orf132', 'score': 0.44}, {'connected_gene': 'ENSG00000261068', 'score': 0.28}]
chr6	GH06I042938	42938977	42940380	1.12	[{'connected_gene': 'GNMT', 'score': 557.52}, {'connected_gene': 'ENSG00000231113', 'score': 550.77}, {'connected_gene': 'PEX6', 'score': 22.47}, {'connected_gene': 'CNPY3', 'score': 0.39}]
chr6	GH06I042935	42935423	42935572	0.82	[{'connected_gene': 'GNMT', 'score': 0.77}, {'connected_gene': 'PIR33684', 'score': 0.44}, {'connected_gene': 'CNPY3', 'score': 0.44}, {'connected_gene': 'GC06M042930', 'score': 0.44}]
chr6	GH06I042934	42934151	42934709	0.2	[{'connected_gene': 'GNMT', 'score': 0.77}, {'connected_gene': 'PIR33684', 'score': 0.44}, {'connected_gene': 'CNPY3', 'score': 0.44}, {'connected_gene': 'GC06M042930', 'score': 0.44}]
chr6	GH06I043266	43266901	43280003	1.76	[{'connected_gene': 'ZNF318', 'score': 44.68}, {'connected_gene': 'POLH', 'score': 39.18}, {'connected_gene': 'POLR1C', 'score': 31.42}, {'connected_gene': 'GTPBP2', 'score': 30.6}, {'connected_gene': 'ABCC10', 'score': 28.97}, {'connected_gene': 'RPS2P29', 'score': 24.67}, {'connected_gene': 'CUL7', 'score': 19.48}, {'connected_gene': 'XPO5', 'score': 19.45}, {'connected_gene': 'UBR2', 'score': 16.08}, {'connected_gene': 'KLC4', 'score': 13.77}, {'connected_gene': 'BICRAL', 'score': 12.86}, {'connected_gene': 'DNPH1', 'score': 12.73}, {'connected_gene': 'CUL9', 'score': 12.72}, {'connected_gene': 'RRP36', 'score': 12.68}, {'connected_gene': 'ENSG00000271970', 'score': 11.15}, {'connected_gene': 'ENSG00000272223', 'score': 10.53}, {'connected_gene': 'SLC35B2', 'score': 10.37}, {'connected_gene': 'TJAP1', 'score': 9.85}, {'connected_gene': 'MRPL2', 'score': 5.42}, {'connected_gene': 'PEX6', 'score': 5.19}, {'connected_gene': 'SLC22A7', 'score': 2.5}, {'connected_gene': 'GNMT', 'score': 2.19}, {'connected_gene': 'CRIP3', 'score': 2.07}, {'connected_gene': 'LOC105375064', 'score': 0.39}, {'connected_gene': 'TTBK1', 'score': 0.31}]
chr6	GH06I043260	43260978	43261371	0.45	[{'connected_gene': 'SLC22A7', 'score': 17.29}, {'connected_gene': 'TJAP1', 'score': 11.73}, {'connected_gene': 'ZNF318', 'score': 11.62}, {'connected_gene': 'CRIP3', 'score': 11.49}, {'connected_gene': 'RPL12P47', 'score': 11.49}, {'connected_gene': 'DLK2', 'score': 11.1}, {'connected_gene': 'DNPH1', 'score': 11.07}, {'connected_gene': 'ENSG00000245261', 'score': 11.05}, {'connected_gene': 'CUL9', 'score': 10.95}, {'connected_gene': 'YIPF3', 'score': 10.91}, {'connected_gene': 'POLR1C', 'score': 10.91}, {'connected_gene': 'LRRC73', 'score': 10.91}, {'connected_gene': 'RNU6-1113P', 'score': 10.57}, {'connected_gene': 'GNMT', 'score': 4.32}, {'connected_gene': 'TTBK1', 'score': 3.27}, {'connected_gene': 'KLC4', 'score': 2.75}, {'connected_gene': 'LOC105375064', 'score': 0.34}]
chr6	GH06I042959	42959666	42961460	1.9	[{'connected_gene': 'GC06M042961', 'score': 550.77}, {'connected_gene': 'GNMT', 'score': 550.34}, {'connected_gene': 'PEX6', 'score': 91.39}, {'connected_gene': 'CUL7', 'score': 4.42}, {'connected_gene': 'RPL24P4', 'score': 0.77}]
chr6	GH06I042928	42927970	42933607	2.32	[{'connected_gene': 'GC06M042930', 'score': 550.77}, {'connected_gene': 'PIR33684', 'score': 550.77}, {'connected_gene': 'CNPY3', 'score': 550.77}, {'connected_gene': 'PEX6', 'score': 75.59}, {'connected_gene': 'ZNF318', 'score': 63.02}, {'connected_gene': 'POLH', 'score': 62.12}, {'connected_gene': 'GTPBP2', 'score': 42.88}, {'connected_gene': 'XPO5', 'score': 35.39}, {'connected_gene': 'RRP36', 'score': 34.37}, {'connected_gene': 'CUL7', 'score': 30.93}, {'connected_gene': 'ABCC10', 'score': 27.35}, {'connected_gene': 'RPS2P29', 'score': 23.38}, {'connected_gene': 'UBR2', 'score': 16.2}, {'connected_gene': 'PPP2R5D', 'score': 15.43}, {'connected_gene': 'POLR1C', 'score': 13.45}, {'connected_gene': 'RPL24P4', 'score': 12.16}, {'connected_gene': 'TAF8', 'score': 11.79}, {'connected_gene': 'BICRAL', 'score': 11.49}, {'connected_gene': 'RPL34P14', 'score': 11.06}, {'connected_gene': 'KLHDC3', 'score': 10.8}, {'connected_gene': 'MEA1', 'score': 10.8}, {'connected_gene': 'KLC4', 'score': 10.75}, {'connected_gene': 'RN7SL403P', 'score': 10.5}, {'connected_gene': 'ENSG00000271754', 'score': 10.49}, {'connected_gene': 'DNPH1', 'score': 10.46}, {'connected_gene': 'RPL7L1', 'score': 10.06}, {'connected_gene': 'CUL9', 'score': 9.86}, {'connected_gene': 'DLK2', 'score': 9.2}, {'connected_gene': 'GNMT', 'score': 0.44}]