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
ENST00000366952	[[160665216, 160666577], [160668215, 160668330], [160670247, 160670416], [160671579, 160671734], [160677645, 160677749], [160679375, 160679747], [160680444, 160681719], [160698484, 160698670]]	[[160666466, 160666577], [160668215, 160668330], [160670247, 160670416], [160671579, 160671734], [160677645, 160677749], [160679375, 160679726]]
ENST00000486916	[[160592092, 160592469], [160645736, 160645836], [160662505, 160662618], [160663325, 160663434], [160664603, 160664818], [160666470, 160666573]]	None
ENST00000366953	[[160637793, 160638530], [160645736, 160645836], [160662505, 160662618], [160663325, 160663434], [160664603, 160664818], [160666470, 160666577], [160668215, 160668330], [160670247, 160670416], [160671579, 160671734], [160677645, 160677749], [160679375, 160680048]]	[[160638463, 160638530], [160645736, 160645836], [160662505, 160662618], [160663325, 160663434], [160664603, 160664818], [160666470, 160666577], [160668215, 160668330], [160670247, 160670416], [160671579, 160671734], [160677645, 160677749], [160679375, 160679789]]
ENST00000498556	[[160638045, 160638530], [160638925, 160639090], [160639231, 160639316]]	None
ENST00000491092	[[160638484, 160638530], [160645736, 160645836], [160662505, 160662618], [160663325, 160663434], [160664603, 160664818], [160666470, 160666577], [160668215, 160668330], [160670247, 160670416], [160671579, 160671734], [160679375, 160679790]]	None
ENST00000489644	[[160678781, 160679013], [160679375, 160679771]]	None
NM_003058	[[160637793, 160638530], [160645736, 160645836], [160662505, 160662618], [160663325, 160663434], [160664603, 160664818], [160666470, 160666577], [160668215, 160668330], [160670247, 160670416], [160671579, 160671734], [160677645, 160677749], [160679375, 160679963]]	[[160638463, 160638530], [160645736, 160645836], [160662505, 160662618], [160663325, 160663434], [160664603, 160664818], [160666470, 160666577], [160668215, 160668330], [160670247, 160670416], [160671579, 160671734], [160677645, 160677749], [160679375, 160679789]]

Promoter

Chrom	Start	End	Description
chr6	160679837	160679844	CAGE_peak_3_at_SLC22A2_5end
chr6	160679846	160679859	CAGE_peak_1_at_SLC22A2_5end
chr6	160679862	160679890	CAGE_peak_2_at_SLC22A2_5end
chr6	160679905	160679913	CAGE_peak_4_at_SLC22A2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr6	GH06I160177	160177369	160177538	0.49	[{'connected_gene': 'WTAP', 'score': 14.0}, {'connected_gene': 'MAP3K4', 'score': 12.47}, {'connected_gene': 'ENSG00000216516', 'score': 0.39}, {'connected_gene': 'PIR49948', 'score': 0.28}, {'connected_gene': 'SLC22A2', 'score': 0.15}]
chr6	GH06I160278	160278914	160279302	0.22	[{'connected_gene': 'SLC22A2', 'score': 550.77}, {'connected_gene': 'LPA', 'score': 1.74}, {'connected_gene': 'SLC22A3', 'score': 0.2}]
chr6	GH06I160259	160259048	160259107	0.61	[{'connected_gene': 'SLC22A2', 'score': 550.37}, {'connected_gene': 'LOC105378088', 'score': 0.77}, {'connected_gene': 'PIR56125', 'score': 0.34}]
chr6	GH06I160248	160248689	160248818	0.62	[{'connected_gene': 'SLC22A2', 'score': 11.87}, {'connected_gene': 'LOC105378088', 'score': 0.39}, {'connected_gene': 'PIR56125', 'score': 0.39}]
chr6	GH06I160299	160299637	160301834	0.88	[{'connected_gene': 'SLC22A3', 'score': 21.17}, {'connected_gene': 'SLC22A2', 'score': 12.38}]
chr6	GH06I160342	160342264	160342649	0.2	[{'connected_gene': 'SLC22A3', 'score': 0.44}, {'connected_gene': 'SLC22A2', 'score': 0.21}]
chr6	GH06I160220	160220962	160223298	0.52	[{'connected_gene': 'SLC22A3', 'score': 8.57}, {'connected_gene': 'PIR49948', 'score': 0.44}, {'connected_gene': 'PIR56125', 'score': 0.37}, {'connected_gene': 'SLC22A2', 'score': 0.22}]
chr6	GH06I160328	160328029	160330061	0.2	[{'connected_gene': 'SLC22A3', 'score': 10.32}, {'connected_gene': 'SLC22A2', 'score': 0.23}]
chr6	GH06I160198	160198276	160199527	0.63	[{'connected_gene': 'SLC22A3', 'score': 4.74}, {'connected_gene': 'PIR49948', 'score': 0.37}, {'connected_gene': 'ENSG00000216516', 'score': 0.28}, {'connected_gene': 'SLC22A2', 'score': 0.18}]
chr6	GH06I160225	160225482	160228616	0.43	[{'connected_gene': 'SLC22A3', 'score': 10.05}, {'connected_gene': 'PIR56125', 'score': 0.39}, {'connected_gene': 'PIR49948', 'score': 0.39}, {'connected_gene': 'SLC22A2', 'score': 0.23}]
chr6	GH06I160254	160254167	160255567	0.87	[{'connected_gene': 'SLC22A3', 'score': 18.61}, {'connected_gene': 'LOC105378088', 'score': 0.44}, {'connected_gene': 'PIR56125', 'score': 0.37}, {'connected_gene': 'SLC22A2', 'score': 0.34}]
chr6	GH06I160330	160330091	160331031	0.2	[{'connected_gene': 'SLC22A1', 'score': 4.66}, {'connected_gene': 'SLC22A3', 'score': 0.37}, {'connected_gene': 'SLC22A2', 'score': 0.23}]
chr6	GH06I160263	160262788	160264553	0.43	[{'connected_gene': 'LOC105378088', 'score': 550.77}, {'connected_gene': 'SLC22A3', 'score': 20.75}, {'connected_gene': 'SLC22A2', 'score': 0.39}]
chr6	GH06I160262	160262429	160262578	0.63	[{'connected_gene': 'LOC105378088', 'score': 550.77}, {'connected_gene': 'SLC22A3', 'score': 10.18}, {'connected_gene': 'SLC22A2', 'score': 0.37}, {'connected_gene': 'PIR56125', 'score': 0.34}]
chr6	GH06I160173	160173937	160174018	0.52	[{'connected_gene': 'ENSG00000216516', 'score': 0.39}, {'connected_gene': 'PIR49948', 'score': 0.26}, {'connected_gene': 'SLC22A2', 'score': 0.15}]
chr6	GH06I160234	160234228	160234491	0.2	[{'connected_gene': 'PIR56125', 'score': 0.77}, {'connected_gene': 'PIR49948', 'score': 0.37}, {'connected_gene': 'SLC22A2', 'score': 0.26}]
chr6	GH06I160237	160237128	160241438	0.97	[{'connected_gene': 'PIR56125', 'score': 550.77}, {'connected_gene': 'SLC22A3', 'score': 19.46}, {'connected_gene': 'SLC22A2', 'score': 10.97}, {'connected_gene': 'LOC105378088', 'score': 0.34}]