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
ENST00000262340	[[68894504, 68895610], [68896747, 68896859], [68896964, 68897059], [68897153, 68897268], [68903869, 68903999], [68904624, 68904764], [68904873, 68905006], [68905243, 68905325], [68906535, 68906683], [68910213, 68910355], [68910458, 68910566], [68912392, 68912543], [68914306, 68914389], [68915577, 68915642]]	[[68895458, 68895610], [68896747, 68896859], [68896964, 68897059], [68897153, 68897268], [68903869, 68903999], [68904624, 68904764], [68904873, 68905006], [68905243, 68905325], [68906535, 68906683], [68910213, 68910355], [68910458, 68910566], [68912392, 68912543], [68914306, 68914389], [68915577, 68915588]]
NM_000329	[[68894506, 68895610], [68896747, 68896859], [68896964, 68897059], [68897153, 68897268], [68903869, 68903999], [68904624, 68904764], [68904873, 68905006], [68905243, 68905325], [68906535, 68906683], [68910213, 68910355], [68910458, 68910566], [68912392, 68912543], [68914306, 68914389], [68915577, 68915642]]	[[68895458, 68895610], [68896747, 68896859], [68896964, 68897059], [68897153, 68897268], [68903869, 68903999], [68904624, 68904764], [68904873, 68905006], [68905243, 68905325], [68906535, 68906683], [68910213, 68910355], [68910458, 68910566], [68912392, 68912543], [68914306, 68914389], [68915577, 68915588]]

Promoter

Chrom	Start	End	Description
chr1	68915610	68915645	CAGE_peak_1_at_RPE65_5end
chr1	68915752	68915778	CAGE_peak_2_at_RPE65_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I068172	68172634	68180246	1.5	[{'connected_gene': 'WLS', 'score': 9.2}, {'connected_gene': 'RPE65', 'score': 8.96}, {'connected_gene': 'IL12RB2', 'score': 5.17}, {'connected_gene': 'MIR1262', 'score': 0.44}, {'connected_gene': 'CTBP2P8', 'score': 0.39}, {'connected_gene': 'GNG12-AS1', 'score': 0.05}]
chr1	GH01I068383	68383189	68386141	1.37	[{'connected_gene': 'WLS', 'score': 9.06}, {'connected_gene': 'ENSG00000229440', 'score': 0.77}, {'connected_gene': 'RPE65', 'score': 0.2}]
chr1	GH01I068527	68527806	68529169	0.2	[{'connected_gene': 'RPE65', 'score': 10.78}, {'connected_gene': 'TXNP2', 'score': 0.39}, {'connected_gene': 'DEPDC1-AS1', 'score': 0.29}, {'connected_gene': 'PIR55312', 'score': 0.06}]
chr1	GH01I068116	68116801	68117200	0.68	[{'connected_gene': 'RPE65', 'score': 11.08}, {'connected_gene': 'GC01M068050', 'score': 0.28}, {'connected_gene': 'CTBP2P8', 'score': 0.25}, {'connected_gene': 'WLS', 'score': 0.13}, {'connected_gene': 'GNG12-AS1', 'score': 0.06}]
chr1	GH01I068119	68119798	68122331	0.87	[{'connected_gene': 'RPE65', 'score': 11.08}, {'connected_gene': 'GC01M068050', 'score': 0.26}, {'connected_gene': 'CTBP2P8', 'score': 0.26}, {'connected_gene': 'WLS', 'score': 0.14}, {'connected_gene': 'GNG12-AS1', 'score': 0.06}]
chr1	GH01I068314	68314418	68314567	0.38	[{'connected_gene': 'RPE65', 'score': 10.34}, {'connected_gene': 'MIR1262', 'score': 10.08}, {'connected_gene': 'LOC105378782', 'score': 0.34}, {'connected_gene': 'ELOCP18', 'score': 0.21}]
chr1	GH01I068111	68111433	68113727	0.91	[{'connected_gene': 'RPE65', 'score': 10.15}, {'connected_gene': 'GNG12-AS1', 'score': 10.1}, {'connected_gene': 'GNG12', 'score': 10.1}, {'connected_gene': 'GC01M068050', 'score': 0.29}, {'connected_gene': 'CTBP2P8', 'score': 0.23}, {'connected_gene': 'WLS', 'score': 0.13}]
chr1	GH01I068409	68409598	68409727	0.2	[{'connected_gene': 'RPE65', 'score': 11.09}, {'connected_gene': 'ENSG00000229440', 'score': 0.31}]
chr1	GH01I068392	68392449	68392850	0.25	[{'connected_gene': 'RPE65', 'score': 11.18}, {'connected_gene': 'ENSG00000229440', 'score': 0.39}]
chr1	GH01I068449	68449944	68450003	0.61	[{'connected_gene': 'RPE65', 'score': 550.77}, {'connected_gene': 'ENSG00000233589', 'score': 0.31}]
chr1	GH01I068453	68453378	68453527	0.38	[{'connected_gene': 'RPE65', 'score': 0.77}, {'connected_gene': 'ENSG00000233589', 'score': 0.31}]
chr1	GH01I068429	68429409	68430000	0.38	[{'connected_gene': 'RPE65', 'score': 0.34}, {'connected_gene': 'ENSG00000229440', 'score': 0.25}]
chr1	GH01I068291	68291533	68295040	1.11	[{'connected_gene': 'LOC105378782', 'score': 550.77}, {'connected_gene': 'MIR1262', 'score': 10.84}, {'connected_gene': 'RPE65', 'score': 9.9}, {'connected_gene': 'WLS', 'score': 6.09}, {'connected_gene': 'COX6B1P7', 'score': 0.39}]
chr1	GH01I068127	68127820	68129613	0.64	[{'connected_gene': 'MIR1262', 'score': 10.71}, {'connected_gene': 'RPE65', 'score': 10.09}, {'connected_gene': 'SERBP1', 'score': 4.42}, {'connected_gene': 'CTBP2P8', 'score': 0.29}, {'connected_gene': 'GC01M068050', 'score': 0.23}, {'connected_gene': 'WLS', 'score': 0.15}, {'connected_gene': 'GNG12-AS1', 'score': 0.06}]
chr1	GH01I068320	68320678	68320845	0.31	[{'connected_gene': 'MIR1262', 'score': 10.22}, {'connected_gene': 'RPE65', 'score': 9.95}, {'connected_gene': 'LOC105378782', 'score': 0.31}, {'connected_gene': 'ELOCP18', 'score': 0.23}]
chr1	GH01I068322	68322054	68324496	0.66	[{'connected_gene': 'MIR1262', 'score': 10.6}, {'connected_gene': 'RPE65', 'score': 10.03}, {'connected_gene': 'LOC105378782', 'score': 0.31}, {'connected_gene': 'ELOCP18', 'score': 0.23}]
chr1	GH01I068321	68321198	68321367	0.52	[{'connected_gene': 'MIR1262', 'score': 10.22}, {'connected_gene': 'RPE65', 'score': 9.95}, {'connected_gene': 'LOC105378782', 'score': 0.31}, {'connected_gene': 'ELOCP18', 'score': 0.23}]
chr1	GH01I068140	68140184	68143481	0.66	[{'connected_gene': 'MIR1262', 'score': 10.72}, {'connected_gene': 'RPE65', 'score': 10.09}, {'connected_gene': 'CTBP2P8', 'score': 4.86}, {'connected_gene': 'GC01M068050', 'score': 0.21}, {'connected_gene': 'WLS', 'score': 0.16}, {'connected_gene': 'GNG12-AS1', 'score': 0.06}]