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
ENST00000465679	[[88718374, 88718575], [88719389, 88719431], [88719757, 88719885], [88722360, 88722630]]	None
ENST00000348795	[[88718386, 88718575], [88719389, 88719431], [88719705, 88719885], [88722360, 88722432], [88722721, 88722922]]	[[88718454, 88718575], [88719389, 88719431], [88719705, 88719885], [88722360, 88722398]]
ENST00000372017	[[88718412, 88718575], [88719389, 88719431], [88719757, 88719885], [88722360, 88722432], [88722721, 88723017]]	[[88718454, 88718575], [88719389, 88719431], [88719757, 88719885], [88722360, 88722432], [88722721, 88722742]]
ENST00000483064	[[88719131, 88719431], [88719757, 88719885], [88722360, 88722432], [88722721, 88723015]]	None
NM_001330120	[[88715557, 88715613], [88716086, 88716182], [88718344, 88718575], [88719389, 88719431], [88719705, 88719885], [88722360, 88722432], [88722721, 88723017]]	[[88718454, 88718575], [88719389, 88719431], [88719705, 88719885], [88722360, 88722398]]
NM_003087	[[88718287, 88718575], [88719389, 88719431], [88719757, 88719885], [88722360, 88722432], [88722721, 88723017]]	[[88718454, 88718575], [88719389, 88719431], [88719757, 88719885], [88722360, 88722432], [88722721, 88722742]]

Promoter

Chrom	Start	End	Description
chr10	88718314	88718388	CAGE_peak_1_at_SNCG_5end
chr10	88718397	88718424	CAGE_peak_3_at_SNCG_5end
chr10	88719078	88719087	CAGE_peak_4_at_SNCG_5end
chr10	88719094	88719103	CAGE_peak_5_at_SNCG_5end
chr10	88719108	88719194	CAGE_peak_2_at_SNCG_5end
chr10	88719202	88719205	CAGE_peak_8_at_SNCG_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr10	GH10I086656	86656964	86658396	0.31	[{'connected_gene': 'MMRN2', 'score': 10.21}, {'connected_gene': 'ADIRF', 'score': 10.21}, {'connected_gene': 'SNCG', 'score': 10.2}, {'connected_gene': 'OPN4', 'score': 9.52}, {'connected_gene': 'ENSG00000272631', 'score': 7.12}, {'connected_gene': 'LOC105378409', 'score': 0.44}]
chr10	GH10I087081	87081402	87085640	1.01	[{'connected_gene': 'MMRN2', 'score': 10.86}, {'connected_gene': 'ADIRF', 'score': 10.86}, {'connected_gene': 'SNCG', 'score': 10.86}, {'connected_gene': 'FAM35A', 'score': 9.83}, {'connected_gene': 'NUTM2A-AS1', 'score': 8.11}, {'connected_gene': 'OPN4', 'score': 7.78}, {'connected_gene': 'NUTM2D', 'score': 6.84}, {'connected_gene': 'GLUD1', 'score': 0.39}, {'connected_gene': 'GC10M087058', 'score': 0.34}]
chr10	GH10I086953	86953475	86961447	2.15	[{'connected_gene': 'SNCG', 'score': 559.67}, {'connected_gene': 'MMRN2', 'score': 550.39}, {'connected_gene': 'LINC00863', 'score': 6.36}, {'connected_gene': 'NUTM2A-AS1', 'score': 6.33}, {'connected_gene': 'ADIRF-AS1', 'score': 4.76}, {'connected_gene': 'GC10P086949', 'score': 0.44}]
chr10	GH10I086770	86770564	86770713	0.38	[{'connected_gene': 'SNCG', 'score': 10.47}, {'connected_gene': 'MMRN2', 'score': 10.46}, {'connected_gene': 'ADIRF', 'score': 10.46}, {'connected_gene': 'BMPR1A', 'score': 0.39}, {'connected_gene': 'GC10M086750', 'score': 0.39}, {'connected_gene': 'GC10M086786', 'score': 0.37}]
chr10	GH10I086961	86961524	86961733	0.58	[{'connected_gene': 'SNCG', 'score': 0.77}, {'connected_gene': 'MMRN2', 'score': 0.44}, {'connected_gene': 'ADIRF', 'score': 0.44}, {'connected_gene': 'GC10P086949', 'score': 0.39}]
chr10	GH10I086945	86945390	86946048	0.94	[{'connected_gene': 'SNCG', 'score': 7.8}, {'connected_gene': 'ENSG00000281974', 'score': 0.77}, {'connected_gene': 'MMRN2', 'score': 0.34}, {'connected_gene': 'GC10P086921', 'score': 0.34}]
chr10	GH10I086979	86979400	86980845	0.72	[{'connected_gene': 'SNCG', 'score': 6.52}, {'connected_gene': 'GRID1', 'score': 4.69}, {'connected_gene': 'AGAP11', 'score': 0.44}, {'connected_gene': 'ADIRF-AS1', 'score': 0.44}, {'connected_gene': 'BMS1P3', 'score': 0.39}, {'connected_gene': 'ADIRF', 'score': 0.39}, {'connected_gene': 'GC10P086949', 'score': 0.29}]
chr10	GH10I086974	86974176	86975071	0.4	[{'connected_gene': 'SNCG', 'score': 6.58}, {'connected_gene': 'KLLN', 'score': 5.34}, {'connected_gene': 'AGAP11', 'score': 0.77}, {'connected_gene': 'ADIRF-AS1', 'score': 0.77}, {'connected_gene': 'ADIRF', 'score': 0.44}, {'connected_gene': 'BMS1P3', 'score': 0.37}, {'connected_gene': 'GC10P086949', 'score': 0.34}]
chr10	GH10I086741	86741714	86745542	0.43	[{'connected_gene': 'BMPR1A', 'score': 10.89}, {'connected_gene': 'MMRN2', 'score': 10.39}, {'connected_gene': 'ADIRF', 'score': 10.39}, {'connected_gene': 'SNCG', 'score': 10.05}, {'connected_gene': 'ENSG00000272631', 'score': 8.85}, {'connected_gene': 'GC10M086714', 'score': 0.31}]
chr10	GH10I086747	86747618	86748504	0.77	[{'connected_gene': 'BMPR1A', 'score': 13.35}, {'connected_gene': 'MMRN2', 'score': 10.39}, {'connected_gene': 'ADIRF', 'score': 10.39}, {'connected_gene': 'SNCG', 'score': 10.05}, {'connected_gene': 'ENSG00000272631', 'score': 8.22}, {'connected_gene': 'GC10M086714', 'score': 0.29}]
chr10	GH10I086851	86851242	86851896	0.46	[{'connected_gene': 'BMPR1A', 'score': 36.82}, {'connected_gene': 'SNCG', 'score': 10.24}, {'connected_gene': 'MMRN2', 'score': 10.22}, {'connected_gene': 'ADIRF', 'score': 10.22}, {'connected_gene': 'RPAP2P1', 'score': 0.77}, {'connected_gene': 'GC10M086786', 'score': 0.21}]
chr10	GH10I086917	86917763	86918959	0.54	[{'connected_gene': 'BMPR1A', 'score': 39.81}, {'connected_gene': 'SNCG', 'score': 11.05}, {'connected_gene': 'ADIRF', 'score': 11.03}, {'connected_gene': 'MMRN2', 'score': 11.02}, {'connected_gene': 'ENSG00000151303', 'score': 10.69}, {'connected_gene': 'BMS1P3', 'score': 4.71}, {'connected_gene': 'GC10P086921', 'score': 0.77}, {'connected_gene': 'GC10P086890', 'score': 0.31}]
chr10	GH10I086939	86939024	86940035	1.11	[{'connected_gene': 'ADIRF', 'score': 13.33}, {'connected_gene': 'MMRN2', 'score': 13.31}, {'connected_gene': 'ENSG00000151303', 'score': 12.23}, {'connected_gene': 'SNCG', 'score': 7.81}, {'connected_gene': 'ENSG00000281974', 'score': 0.44}, {'connected_gene': 'GC10P086921', 'score': 0.37}]
chr10	GH10I086965	86965954	86973708	2.13	[{'connected_gene': 'ADIRF-AS1', 'score': 558.86}, {'connected_gene': 'ENSG00000273413', 'score': 550.77}, {'connected_gene': 'AGAP11', 'score': 550.77}, {'connected_gene': 'MMRN2', 'score': 550.77}, {'connected_gene': 'ADIRF', 'score': 550.77}, {'connected_gene': 'SNCG', 'score': 8.99}, {'connected_gene': 'ENSG00000261011', 'score': 8.24}, {'connected_gene': 'BMS1P3', 'score': 7.74}, {'connected_gene': 'BMPR1A', 'score': 4.94}, {'connected_gene': 'GRID1', 'score': 4.71}, {'connected_gene': 'LINC00863', 'score': 4.52}, {'connected_gene': 'NUTM2A', 'score': 4.25}, {'connected_gene': 'GC10P086949', 'score': 0.37}]
chr10	GH10I087019	87019384	87019533	0.43	[{'connected_gene': 'FAM25A', 'score': 550.77}, {'connected_gene': 'SNCG', 'score': 6.08}, {'connected_gene': 'ENSG00000229969', 'score': 0.77}, {'connected_gene': 'ENSG00000272508', 'score': 0.31}, {'connected_gene': 'GC10P086949', 'score': 0.2}]
chr10	GH10I087640	87640357	87641481	0.38	[{'connected_gene': 'GC10P087644', 'score': 550.77}, {'connected_gene': 'RPS26P38', 'score': 550.77}, {'connected_gene': 'PAPSS2', 'score': 9.0}, {'connected_gene': 'SNCG', 'score': 5.77}, {'connected_gene': 'ENSG00000196566', 'score': 0.37}, {'connected_gene': 'ENSG00000225913', 'score': 0.29}, {'connected_gene': 'LOC105378412', 'score': 0.26}]