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
ENST00000227474	[[125763380, 125764181], [125765118, 125765684], [125765801, 125766225], [125773064, 125773116]]	[[125763679, 125764181], [125765118, 125765684], [125765801, 125766179]]
ENST00000530811	[[125763381, 125764181], [125765118, 125765684], [125765801, 125766225]]	[[125763679, 125764181], [125765118, 125765684], [125765801, 125766179]]
ENST00000534158	[[125765555, 125765684], [125765801, 125766225], [125773064, 125773116]]	[[125765555, 125765684], [125765801, 125766179]]
ENST00000529801	[[125765864, 125766225], [125770573, 125770739], [125773064, 125773116]]	[[125765864, 125766179]]
NM_031307	[[125763379, 125764181], [125765118, 125765684], [125765801, 125766225], [125773064, 125773116]]	[[125763679, 125764181], [125765118, 125765684], [125765801, 125766179]]
NM_001271985	[[125763379, 125764181], [125765118, 125765684], [125773064, 125773116]]	[[125763679, 125764181], [125765118, 125765438]]

Promoter

Chrom	Start	End	Description
chr11	125773085	125773122	CAGE_peak_1_at_PUS3_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr11	GH11I125568	125568800	125571266	2.05	[{'connected_gene': 'EI24', 'score': 550.77}, {'connected_gene': 'FEZ1', 'score': 12.48}, {'connected_gene': 'DDX25', 'score': 8.5}, {'connected_gene': 'PUS3', 'score': 5.34}, {'connected_gene': 'RNU6-1156P', 'score': 0.77}, {'connected_gene': 'STT3A-AS1', 'score': 0.34}]
chr11	GH11I125890	125890168	125891271	0.67	[{'connected_gene': 'RPUSD4', 'score': 10.53}, {'connected_gene': 'PUS3', 'score': 7.29}, {'connected_gene': 'CHEK1', 'score': 6.12}, {'connected_gene': 'PIR58536', 'score': 0.77}, {'connected_gene': 'GC11P125889', 'score': 0.77}, {'connected_gene': 'PIR36090', 'score': 0.44}, {'connected_gene': 'HYLS1', 'score': 0.44}]
chr11	GH11I125433	125433565	125433714	0.88	[{'connected_gene': 'PUS3', 'score': 5.29}, {'connected_gene': 'PIR57808', 'score': 0.77}, {'connected_gene': 'GC11P125442', 'score': 0.44}]
chr11	GH11I125923	125923146	125923315	0.69	[{'connected_gene': 'FAM118B', 'score': 10.6}, {'connected_gene': 'RPUSD4', 'score': 10.6}, {'connected_gene': 'ENSG00000254694', 'score': 10.6}, {'connected_gene': 'GC11P125928', 'score': 0.77}, {'connected_gene': 'PUS3', 'score': 0.37}, {'connected_gene': 'DDX25', 'score': 0.37}, {'connected_gene': 'ENSG00000255027', 'score': 0.37}]
chr11	GH11I126196	126196198	126198785	0.58	[{'connected_gene': 'FOXRED1', 'score': 57.19}, {'connected_gene': 'FAM118B', 'score': 26.56}, {'connected_gene': 'ENSG00000254790', 'score': 10.38}, {'connected_gene': 'SRPRA', 'score': 10.21}, {'connected_gene': 'DDX25', 'score': 10.16}, {'connected_gene': 'PUS3', 'score': 10.16}, {'connected_gene': 'DCPS', 'score': 5.36}, {'connected_gene': 'ENSG00000254694', 'score': 0.39}, {'connected_gene': 'ENSG00000254771', 'score': 0.37}]
chr11	GH11I126034	126034270	126035628	0.43	[{'connected_gene': 'CDON', 'score': 11.69}, {'connected_gene': 'PUS3', 'score': 9.56}, {'connected_gene': 'DDX25', 'score': 9.56}, {'connected_gene': 'PIR48177', 'score': 0.34}]
chr11	GH11I126029	126029735	126030644	0.54	[{'connected_gene': 'CDON', 'score': 11.67}, {'connected_gene': 'PUS3', 'score': 9.57}, {'connected_gene': 'DDX25', 'score': 9.57}, {'connected_gene': 'PIR48177', 'score': 0.37}]
chr11	GH11I125591	125591163	125594304	2.08	[{'connected_gene': 'STT3A', 'score': 562.43}, {'connected_gene': 'STT3A-AS1', 'score': 550.77}, {'connected_gene': 'HP11014', 'score': 38.61}, {'connected_gene': 'TMEM218', 'score': 22.92}, {'connected_gene': 'CHEK1', 'score': 22.75}, {'connected_gene': 'MSANTD2', 'score': 20.59}, {'connected_gene': 'ENSG00000254509', 'score': 14.18}, {'connected_gene': 'TIRAP', 'score': 12.38}, {'connected_gene': 'ENSG00000254694', 'score': 12.23}, {'connected_gene': 'EI24', 'score': 11.93}, {'connected_gene': 'CDON', 'score': 10.0}, {'connected_gene': 'DDX25', 'score': 7.52}, {'connected_gene': 'FEZ1', 'score': 5.59}, {'connected_gene': 'PUS3', 'score': 4.47}]
chr11	GH11I125904	125904200	125904535	1.56	[{'connected_gene': 'DDX25', 'score': 563.5}, {'connected_gene': 'PUS3', 'score': 550.77}, {'connected_gene': 'ENSG00000254790', 'score': 10.3}, {'connected_gene': 'FAM118B', 'score': 10.0}, {'connected_gene': 'RPUSD4', 'score': 10.0}, {'connected_gene': 'ENSG00000254694', 'score': 10.0}, {'connected_gene': 'GC11P125928', 'score': 0.34}, {'connected_gene': 'ENSG00000255027', 'score': 0.29}]
chr11	GH11I125901	125901994	125904000	1.94	[{'connected_gene': 'DDX25', 'score': 604.02}, {'connected_gene': 'PUS3', 'score': 557.71}, {'connected_gene': 'ENSG00000254790', 'score': 10.3}, {'connected_gene': 'FAM118B', 'score': 10.0}, {'connected_gene': 'RPUSD4', 'score': 10.0}, {'connected_gene': 'ENSG00000254694', 'score': 10.0}, {'connected_gene': 'PIR36090', 'score': 0.77}, {'connected_gene': 'ENSG00000255027', 'score': 0.28}]
chr11	GH11I125474	125474903	125487755	0.59	[{'connected_gene': 'FEZ1', 'score': 11.55}, {'connected_gene': 'EI24', 'score': 10.55}, {'connected_gene': 'RNU6-1156P', 'score': 10.54}, {'connected_gene': 'DDX25', 'score': 8.01}, {'connected_gene': 'PUS3', 'score': 6.66}, {'connected_gene': 'CHEK1', 'score': 5.85}, {'connected_gene': 'PATE4', 'score': 4.74}, {'connected_gene': 'GC11P125484', 'score': 0.77}, {'connected_gene': 'GC11P125442', 'score': 0.26}]
chr11	GH11I125493	125493968	125496887	2.27	[{'connected_gene': 'FEZ1', 'score': 561.72}, {'connected_gene': 'LOC403312', 'score': 550.77}, {'connected_gene': 'PUS3', 'score': 5.24}, {'connected_gene': 'DDX25', 'score': 2.16}, {'connected_gene': 'PKNOX2', 'score': 1.45}]
chr11	GH11I125624	125624374	125627766	2.11	[{'connected_gene': 'CHEK1', 'score': 562.92}, {'connected_gene': 'HP11014', 'score': 35.3}, {'connected_gene': 'TMEM218', 'score': 34.82}, {'connected_gene': 'TIRAP', 'score': 26.43}, {'connected_gene': 'MSANTD2', 'score': 21.8}, {'connected_gene': 'FEZ1', 'score': 15.73}, {'connected_gene': 'STT3A', 'score': 13.6}, {'connected_gene': 'CCDC15', 'score': 12.93}, {'connected_gene': 'ACRV1', 'score': 4.89}, {'connected_gene': 'PUS3', 'score': 4.8}, {'connected_gene': 'RNU2-35P', 'score': 0.34}]
chr11	GH11I126246	126246746	126246895	0.2	[{'connected_gene': 'RN7SL351P', 'score': 550.77}, {'connected_gene': 'FAM118B', 'score': 11.04}, {'connected_gene': 'RPUSD4', 'score': 11.04}, {'connected_gene': 'ENSG00000254694', 'score': 11.04}, {'connected_gene': 'RNU4-86P', 'score': 10.7}, {'connected_gene': 'DDX25', 'score': 9.59}, {'connected_gene': 'PUS3', 'score': 9.59}, {'connected_gene': 'DCPS', 'score': 6.53}, {'connected_gene': 'FOXRED1', 'score': 0.34}]
chr11	GH11I125179	125179279	125181412	0.89	[{'connected_gene': 'LOC105369549', 'score': 10.41}, {'connected_gene': 'RNU6-321P', 'score': 10.14}, {'connected_gene': 'PUS3', 'score': 4.84}, {'connected_gene': 'ENSG00000259290', 'score': 0.44}, {'connected_gene': 'PKNOX2', 'score': 0.37}]
chr11	GH11I125874	125874626	125874775	0.66	[{'connected_gene': 'ENSG00000260209', 'score': 550.77}, {'connected_gene': 'PUS3', 'score': 10.48}, {'connected_gene': 'DDX25', 'score': 10.48}, {'connected_gene': 'PATE4', 'score': 10.09}, {'connected_gene': 'CHEK1', 'score': 6.43}, {'connected_gene': 'HYLS1', 'score': 0.44}]
chr11	GH11I125916	125916706	125916855	0.31	[{'connected_gene': 'ENSG00000254790', 'score': 10.78}, {'connected_gene': 'PUS3', 'score': 0.39}, {'connected_gene': 'GC11P125928', 'score': 0.39}, {'connected_gene': 'DDX25', 'score': 0.39}, {'connected_gene': 'ENSG00000255027', 'score': 0.34}]
chr11	GH11I125925	125925143	125925911	0.83	[{'connected_gene': 'GC11P125928', 'score': 550.77}, {'connected_gene': 'FAM118B', 'score': 10.6}, {'connected_gene': 'RPUSD4', 'score': 10.6}, {'connected_gene': 'ENSG00000254694', 'score': 10.6}, {'connected_gene': 'EI24', 'score': 6.26}, {'connected_gene': 'DDX25', 'score': 5.93}, {'connected_gene': 'LOC105369554', 'score': 0.39}, {'connected_gene': 'ENSG00000255027', 'score': 0.39}, {'connected_gene': 'PUS3', 'score': 0.34}]
chr11	GH11I125886	125886706	125888810	2.01	[{'connected_gene': 'GC11P125889', 'score': 550.77}, {'connected_gene': 'HYLS1', 'score': 550.77}, {'connected_gene': 'PIR58536', 'score': 550.77}, {'connected_gene': 'HP11014', 'score': 10.98}, {'connected_gene': 'TMEM218', 'score': 10.3}, {'connected_gene': 'STT3A', 'score': 9.96}, {'connected_gene': 'DDX25', 'score': 6.36}, {'connected_gene': 'CHEK1', 'score': 6.36}, {'connected_gene': 'PUS3', 'score': 4.62}, {'connected_gene': 'PIR36090', 'score': 0.39}]