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
ENST00000371279	[[55222570, 55224863], [55230133, 55230187]]	[[55223406, 55224834]]
NM_152268	[[55222570, 55224863], [55230133, 55230226]]	[[55223406, 55224834]]

Promoter

Chrom	Start	End	Description
chr1	55230165	55230222	CAGE_peak_1_at_PARS2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I054615	54615228	54616108	0.54	[{'connected_gene': 'NDC1', 'score': 13.01}, {'connected_gene': 'SSBP3-AS1', 'score': 12.25}, {'connected_gene': 'MROH7', 'score': 12.14}, {'connected_gene': 'PARS2', 'score': 10.5}, {'connected_gene': 'LRRC42', 'score': 10.5}, {'connected_gene': 'FAM151A', 'score': 0.44}, {'connected_gene': 'ACOT11', 'score': 0.19}]
chr1	GH01I054792	54792785	54802259	2.29	[{'connected_gene': 'TTC22', 'score': 556.82}, {'connected_gene': 'LEXM', 'score': 14.56}, {'connected_gene': 'PARS2', 'score': 11.8}, {'connected_gene': 'TTC4', 'score': 10.29}, {'connected_gene': 'ENSG00000242396', 'score': 9.65}, {'connected_gene': 'DHCR24', 'score': 9.65}, {'connected_gene': 'ENSG00000233203', 'score': 9.64}, {'connected_gene': 'ENSG00000237453', 'score': 0.77}, {'connected_gene': 'PIR51709', 'score': 0.77}, {'connected_gene': 'GC01M054800', 'score': 0.77}]
chr1	GH01I053942	53942619	53948005	2.08	[{'connected_gene': 'HSPB11', 'score': 573.55}, {'connected_gene': 'LRRC42', 'score': 570.11}, {'connected_gene': 'MAGOH', 'score': 48.5}, {'connected_gene': 'SSBP3-AS1', 'score': 43.34}, {'connected_gene': 'NDC1', 'score': 31.84}, {'connected_gene': 'CYB5RL', 'score': 10.95}, {'connected_gene': 'PARS2', 'score': 10.42}, {'connected_gene': 'TTC4', 'score': 9.92}, {'connected_gene': 'TCEANC2', 'score': 9.28}, {'connected_gene': 'GC01P053939', 'score': 0.44}]
chr1	GH01I054763	54763486	54765366	2.04	[{'connected_gene': 'PARS2', 'score': 561.49}, {'connected_gene': 'NDC1', 'score': 12.4}, {'connected_gene': 'LRRC42', 'score': 10.59}, {'connected_gene': 'SSBP3-AS1', 'score': 10.4}, {'connected_gene': 'TTC4', 'score': 5.33}, {'connected_gene': 'PIR47125', 'score': 0.44}]
chr1	GH01I054776	54776158	54777337	0.63	[{'connected_gene': 'PARS2', 'score': 10.66}, {'connected_gene': 'PIR33324', 'score': 0.77}, {'connected_gene': 'GC01P054773', 'score': 0.77}, {'connected_gene': 'GC01P054790', 'score': 0.39}, {'connected_gene': 'PIR50014', 'score': 0.39}]
chr1	GH01I054775	54775248	54775397	0.69	[{'connected_gene': 'PARS2', 'score': 10.47}, {'connected_gene': 'PIR33324', 'score': 0.77}, {'connected_gene': 'GC01P054773', 'score': 0.77}, {'connected_gene': 'GC01P054790', 'score': 0.39}, {'connected_gene': 'PIR50014', 'score': 0.39}]
chr1	GH01I054051	54051327	54054981	2.12	[{'connected_gene': 'TCEANC2', 'score': 579.34}, {'connected_gene': 'MIR4781', 'score': 550.77}, {'connected_gene': 'TMEM59', 'score': 550.77}, {'connected_gene': 'MAGOH', 'score': 67.4}, {'connected_gene': 'NDC1', 'score': 49.19}, {'connected_gene': 'SSBP3-AS1', 'score': 43.88}, {'connected_gene': 'HSPB11', 'score': 33.76}, {'connected_gene': 'LRRC42', 'score': 29.83}, {'connected_gene': 'PARS2', 'score': 19.95}, {'connected_gene': 'CYB5RL', 'score': 19.87}, {'connected_gene': 'ENSG00000256407', 'score': 12.85}, {'connected_gene': 'ENSG00000279049', 'score': 11.42}, {'connected_gene': 'C1orf123', 'score': 11.16}, {'connected_gene': 'LDLRAD1', 'score': 10.5}, {'connected_gene': 'PODN', 'score': 10.39}, {'connected_gene': 'RPL37P7', 'score': 9.71}, {'connected_gene': 'ENSG00000280378', 'score': 0.37}]
chr1	GH01I054882	54882271	54890116	2.29	[{'connected_gene': 'ENSG00000233203', 'score': 564.79}, {'connected_gene': 'DHCR24', 'score': 562.33}, {'connected_gene': 'ENSG00000242396', 'score': 550.77}, {'connected_gene': 'SSBP3-AS1', 'score': 23.2}, {'connected_gene': 'HSPB11', 'score': 14.4}, {'connected_gene': 'ENSG00000279049', 'score': 12.58}, {'connected_gene': 'TMEM61', 'score': 10.71}, {'connected_gene': 'TTC22', 'score': 10.62}, {'connected_gene': 'PARS2', 'score': 10.52}, {'connected_gene': 'LRRC42', 'score': 10.5}, {'connected_gene': 'ENSG00000237453', 'score': 10.04}, {'connected_gene': 'TTC4', 'score': 9.99}, {'connected_gene': 'LEXM', 'score': 5.27}, {'connected_gene': 'PIR36544', 'score': 0.39}]