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
ENST00000218548	[[25254548, 25254890], [25255699, 25255858], [25259451, 25259511], [25262456, 25262660], [25263399, 25263513], [25264475, 25264610], [25264741, 25264859], [25265101, 25265388], [25266566, 25266765], [25266924, 25267034], [25268581, 25268716], [25272795, 25272988], [25274884, 25275060], [25276072, 25276209], [25280450, 25280601], [25281160, 25281329], [25281416, 25281571], [25283501, 25283625], [25283820, 25283966], [25284597, 25284731], [25284929, 25285031], [25285455, 25285547], [25285631, 25285921]]	[[25254881, 25254890], [25255699, 25255858], [25259451, 25259511], [25262456, 25262660], [25263399, 25263513], [25264475, 25264610], [25264741, 25264859], [25265101, 25265388], [25266566, 25266765], [25266924, 25267034], [25268581, 25268716], [25272795, 25272988], [25274884, 25275060], [25276072, 25276209], [25280450, 25280601], [25281160, 25281329], [25281416, 25281571], [25283501, 25283625], [25283820, 25283966], [25284597, 25284731], [25284929, 25285031], [25285455, 25285547], [25285631, 25285660]]
ENST00000381946	[[25254714, 25254890], [25255699, 25255858], [25259451, 25259511], [25262456, 25262660], [25263399, 25263513], [25264475, 25264610], [25264741, 25264859], [25265119, 25265388], [25266566, 25266765], [25266924, 25267034], [25268581, 25268716], [25272795, 25272988], [25274884, 25275060], [25276072, 25276209], [25280450, 25280601], [25281160, 25281329], [25281416, 25281571], [25283501, 25283625], [25283820, 25283966], [25284597, 25284731], [25284929, 25285031], [25285455, 25285547], [25285631, 25285911]]	[[25254881, 25254890], [25255699, 25255858], [25259451, 25259511], [25262456, 25262660], [25263399, 25263513], [25264475, 25264610], [25264741, 25264859], [25265119, 25265388], [25266566, 25266765], [25266924, 25267034], [25268581, 25268716], [25272795, 25272988], [25274884, 25275060], [25276072, 25276209], [25280450, 25280601], [25281160, 25281329], [25281416, 25281571], [25283501, 25283625], [25283820, 25283966], [25284597, 25284731], [25284929, 25285031], [25285455, 25285547], [25285631, 25285660]]
NM_001676	[[25254548, 25254890], [25255699, 25255858], [25259451, 25259511], [25262456, 25262660], [25263399, 25263513], [25264475, 25264610], [25264741, 25264859], [25265119, 25265388], [25266566, 25266765], [25266924, 25267034], [25268581, 25268716], [25272795, 25272988], [25274884, 25275060], [25276072, 25276209], [25280450, 25280601], [25281160, 25281329], [25281416, 25281571], [25283501, 25283625], [25283820, 25283966], [25284597, 25284731], [25284929, 25285031], [25285455, 25285547], [25285631, 25285923]]	[[25254881, 25254890], [25255699, 25255858], [25259451, 25259511], [25262456, 25262660], [25263399, 25263513], [25264475, 25264610], [25264741, 25264859], [25265119, 25265388], [25266566, 25266765], [25266924, 25267034], [25268581, 25268716], [25272795, 25272988], [25274884, 25275060], [25276072, 25276209], [25280450, 25280601], [25281160, 25281329], [25281416, 25281571], [25283501, 25283625], [25283820, 25283966], [25284597, 25284731], [25284929, 25285031], [25285455, 25285547], [25285631, 25285660]]
NM_001185085	[[25254548, 25254890], [25255699, 25255858], [25259451, 25259511], [25262456, 25262660], [25263399, 25263513], [25264475, 25264610], [25264741, 25264859], [25265101, 25265388], [25266566, 25266765], [25266924, 25267034], [25268581, 25268716], [25272795, 25272988], [25274884, 25275060], [25276072, 25276209], [25280450, 25280601], [25281160, 25281329], [25281416, 25281571], [25283501, 25283625], [25283820, 25283966], [25284597, 25284731], [25284929, 25285031], [25285455, 25285547], [25285631, 25285923]]	[[25254881, 25254890], [25255699, 25255858], [25259451, 25259511], [25262456, 25262660], [25263399, 25263513], [25264475, 25264610], [25264741, 25264859], [25265101, 25265388], [25266566, 25266765], [25266924, 25267034], [25268581, 25268716], [25272795, 25272988], [25274884, 25275060], [25276072, 25276209], [25280450, 25280601], [25281160, 25281329], [25281416, 25281571], [25283501, 25283625], [25283820, 25283966], [25284597, 25284731], [25284929, 25285031], [25285455, 25285547], [25285631, 25285660]]

Promoter

Chrom	Start	End	Description
chr13	25254545	25254550	CAGE_peak_1_at_ATP12A_5end
chr13	25254693	25254710	CAGE_peak_2_at_ATP12A_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr13	GH13I024989	24989001	24989400	0.2	[{'connected_gene': 'RPL34P27', 'score': 550.77}, {'connected_gene': 'GC13M024989', 'score': 550.77}, {'connected_gene': 'ATP12A', 'score': 10.96}, {'connected_gene': 'RNF17', 'score': 10.74}, {'connected_gene': 'TPTE2P6', 'score': 6.9}, {'connected_gene': 'TPTE2P1', 'score': 6.8}, {'connected_gene': 'LSP1P1', 'score': 0.31}]
chr13	GH13I024695	24694819	24695124	0.28	[{'connected_gene': 'RNF17', 'score': 27.07}, {'connected_gene': 'ATP12A', 'score': 17.96}, {'connected_gene': 'PIR43036', 'score': 0.44}, {'connected_gene': 'GC13M024705', 'score': 0.44}, {'connected_gene': 'RNY1P7', 'score': 0.44}]
chr13	GH13I024649	24649583	24652937	0.54	[{'connected_gene': 'RNF17', 'score': 10.92}, {'connected_gene': 'ATP12A', 'score': 6.32}, {'connected_gene': 'GC13P024570', 'score': 0.18}]
chr13	GH13I024684	24684523	24684532	0.65	[{'connected_gene': 'RNF17', 'score': 10.15}, {'connected_gene': 'PIR43036', 'score': 0.77}, {'connected_gene': 'ATP12A', 'score': 0.77}]
chr13	GH13I024686	24684603	24684752	0.67	[{'connected_gene': 'RNF17', 'score': 10.15}, {'connected_gene': 'PIR43036', 'score': 0.77}, {'connected_gene': 'ATP12A', 'score': 0.77}]
chr13	GH13I024685	24684763	24684812	0.65	[{'connected_gene': 'RNF17', 'score': 10.15}, {'connected_gene': 'PIR43036', 'score': 0.77}, {'connected_gene': 'ATP12A', 'score': 0.77}]
chr13	GH13I024667	24667776	24672911	1.1	[{'connected_gene': 'ATP12A', 'score': 15.89}, {'connected_gene': 'RNF17', 'score': 10.48}, {'connected_gene': 'PARP4', 'score': 10.23}, {'connected_gene': 'GC13P024570', 'score': 0.15}]
chr13	GH13I024694	24694001	24694352	0.96	[{'connected_gene': 'ATP12A', 'score': 18.45}, {'connected_gene': 'RNF17', 'score': 10.19}, {'connected_gene': 'PIR43036', 'score': 0.44}, {'connected_gene': 'GC13M024705', 'score': 0.44}, {'connected_gene': 'RNY1P7', 'score': 0.44}]
chr13	GH13I024708	24708803	24709998	0.69	[{'connected_gene': 'ATP12A', 'score': 18.95}, {'connected_gene': 'RNF17', 'score': 11.25}, {'connected_gene': 'RPL26P34', 'score': 0.77}, {'connected_gene': 'LOC105370118', 'score': 0.31}]
chr13	GH13I024683	24683963	24684132	0.67	[{'connected_gene': 'ATP12A', 'score': 21.67}, {'connected_gene': 'RNF17', 'score': 10.15}, {'connected_gene': 'PIR43036', 'score': 0.77}]
chr13	GH13I024680	24680135	24681509	1.13	[{'connected_gene': 'ATP12A', 'score': 568.74}, {'connected_gene': 'RNF17', 'score': 10.14}, {'connected_gene': 'PIR43036', 'score': 0.44}]
chr13	GH13I024629	24629654	24631502	0.86	[{'connected_gene': 'ATP12A', 'score': 11.28}, {'connected_gene': 'PARP4', 'score': 10.03}, {'connected_gene': 'TPTE2P6', 'score': 4.88}, {'connected_gene': 'GC13P024570', 'score': 0.21}]
chr13	GH13I024663	24663898	24666140	0.51	[{'connected_gene': 'ATP12A', 'score': 9.33}, {'connected_gene': 'ENSG00000228741', 'score': 5.18}, {'connected_gene': 'GC13P024570', 'score': 0.16}]
chr13	GH13I024664	24663564	24663792	0.51	[{'connected_gene': 'ATP12A', 'score': 0.37}, {'connected_gene': 'GC13P024570', 'score': 0.16}]
chr13	GH13I024661	24661714	24663399	0.66	[{'connected_gene': 'ATP12A', 'score': 5.7}, {'connected_gene': 'GC13P024570', 'score': 0.16}]
chr13	GH13I024624	24624697	24627392	0.94	[{'connected_gene': 'TPTE2P6', 'score': 14.69}, {'connected_gene': 'ATP12A', 'score': 11.23}, {'connected_gene': 'PARP4', 'score': 10.31}, {'connected_gene': 'RNF17', 'score': 10.05}, {'connected_gene': 'GC13P024570', 'score': 0.22}]
chr13	GH13I024580	24580273	24581199	0.52	[{'connected_gene': 'TPTE2P6', 'score': 18.34}, {'connected_gene': 'ENSG00000243008', 'score': 0.39}, {'connected_gene': 'GC13P024570', 'score': 0.39}, {'connected_gene': 'ATP12A', 'score': 0.15}]
chr13	GH13I024617	24617828	24620152	0.84	[{'connected_gene': 'TPTE2P6', 'score': 11.28}, {'connected_gene': 'GC13P024570', 'score': 0.25}, {'connected_gene': 'ATP12A', 'score': 0.21}]
chr13	GH13I024715	24715947	24716778	0.31	[{'connected_gene': 'PARP4', 'score': 14.48}, {'connected_gene': 'RNF17', 'score': 10.33}, {'connected_gene': 'ATP12A', 'score': 4.88}, {'connected_gene': 'RPL26P34', 'score': 0.39}, {'connected_gene': 'LOC105370118', 'score': 0.34}]
chr13	GH13I024598	24598041	24598761	0.2	[{'connected_gene': 'PARP4', 'score': 9.62}, {'connected_gene': 'GC13P024570', 'score': 0.31}, {'connected_gene': 'ATP12A', 'score': 0.18}]