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
ENST00000223428	[[99518146, 99522759], [99525399, 99525495], [99525787, 99525914], [99537069, 99537128], [99538281, 99538527], [99540315, 99540328]]	[[99521059, 99522759], [99525399, 99525495], [99525787, 99525914], [99537069, 99537128], [99538281, 99538351]]
ENST00000375231	[[99518146, 99522759], [99525399, 99525495], [99525787, 99525914], [99537069, 99537128], [99538281, 99538527], [99539863, 99540338]]	[[99521059, 99522759], [99525399, 99525495], [99525787, 99525914], [99537069, 99537128], [99538281, 99538351]]
ENST00000472201	[[99525228, 99525495], [99525787, 99525975]]	None
ENST00000374641	[[99525348, 99525495], [99525787, 99525914], [99537069, 99537128], [99538281, 99538527], [99540315, 99540411]]	[[99525348, 99525495], [99525787, 99525914], [99537069, 99537128], [99538281, 99538351]]
NM_001314059	[[99516830, 99522759], [99525399, 99525495], [99525787, 99525914], [99537069, 99537128], [99538281, 99538527], [99539863, 99540348]]	[[99521059, 99522759], [99525399, 99525495], [99525787, 99525914], [99537069, 99537128], [99538281, 99538351]]
NM_014930	[[99516830, 99522759], [99525399, 99525495], [99525787, 99525914], [99537069, 99537128], [99538281, 99538527], [99540315, 99540411]]	[[99521059, 99522759], [99525399, 99525495], [99525787, 99525914], [99537069, 99537128], [99538281, 99538351]]
NM_001314060	[[99516830, 99522759], [99525399, 99525495], [99525787, 99525914], [99538281, 99538527], [99540315, 99540411]]	[[99521059, 99522759], [99525399, 99525495], [99525787, 99525857]]

Promoter

Chrom	Start	End	Description
chr9	99540335	99540388	CAGE_peak_1_at_ZNF510_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr9	GH09I097695	97695783	97698568	2	[{'connected_gene': 'XPA', 'score': 561.88}, {'connected_gene': 'KRT18P13', 'score': 559.49}, {'connected_gene': 'ZNF322P1', 'score': 16.08}, {'connected_gene': 'ZNF510', 'score': 14.66}, {'connected_gene': 'NCBP1', 'score': 11.36}, {'connected_gene': 'CCDC180', 'score': 11.04}, {'connected_gene': 'ZNF782', 'score': 9.67}, {'connected_gene': 'TSTD2', 'score': 8.34}, {'connected_gene': 'GC09M097677', 'score': 0.37}]
chr9	GH09I097631	97631431	97635396	2.29	[{'connected_gene': 'NCBP1', 'score': 582.53}, {'connected_gene': 'TSTD2', 'score': 567.37}, {'connected_gene': 'MFSD14C', 'score': 22.19}, {'connected_gene': 'ZNF782', 'score': 21.82}, {'connected_gene': 'NUTM2G', 'score': 20.22}, {'connected_gene': 'ZNF322P1', 'score': 13.57}, {'connected_gene': 'ENSG00000224848', 'score': 12.63}, {'connected_gene': 'ZNF510', 'score': 12.18}, {'connected_gene': 'ENSG00000254633', 'score': 12.02}, {'connected_gene': 'XPA', 'score': 10.96}, {'connected_gene': 'LOC105376171', 'score': 10.79}, {'connected_gene': 'TDRD7', 'score': 10.74}, {'connected_gene': 'LOC441454', 'score': 10.57}, {'connected_gene': 'TMOD1', 'score': 9.21}, {'connected_gene': 'PIR37261', 'score': 0.31}, {'connected_gene': 'GC09P097607', 'score': 0.31}]
chr9	GH09I096773	96773539	96773876	0.22	[{'connected_gene': 'NUTM2G', 'score': 4.81}, {'connected_gene': 'ZNF510', 'score': 0.77}, {'connected_gene': 'GC09P096778', 'score': 0.77}, {'connected_gene': 'PIR50621', 'score': 0.37}]
chr9	GH09I095778	95778901	95779791	0.77	[{'connected_gene': 'ERCC6L2', 'score': 45.6}, {'connected_gene': 'ENSG00000271155', 'score': 41.02}, {'connected_gene': 'LINC00476', 'score': 24.45}, {'connected_gene': 'ZNF510', 'score': 21.76}, {'connected_gene': 'ENSG00000271659', 'score': 20.17}, {'connected_gene': 'LOC441455', 'score': 12.41}, {'connected_gene': 'LOC158435', 'score': 11.65}, {'connected_gene': 'FANCC', 'score': 11.22}, {'connected_gene': 'PTCH1', 'score': 9.82}, {'connected_gene': 'LOC105376161', 'score': 9.09}, {'connected_gene': 'GC09P095813', 'score': 0.29}]
chr9	GH09I095874	95874343	95877760	2.32	[{'connected_gene': 'ERCC6L2', 'score': 607.76}, {'connected_gene': 'LINC00476', 'score': 604.46}, {'connected_gene': 'ENSG00000271155', 'score': 20.71}, {'connected_gene': 'ZNF510', 'score': 14.66}, {'connected_gene': 'LOC158435', 'score': 11.09}, {'connected_gene': 'ENSG00000271659', 'score': 9.9}, {'connected_gene': 'GC09P095906', 'score': 0.31}]
chr9	GH09I096853	96853259	96855168	1.49	[{'connected_gene': 'ERCC6L2', 'score': 18.89}, {'connected_gene': 'EIF4BP3', 'score': 11.96}, {'connected_gene': 'TSTD2', 'score': 10.26}, {'connected_gene': 'NUTM2G', 'score': 6.35}, {'connected_gene': 'LOC100132781', 'score': 0.39}, {'connected_gene': 'ZNF510', 'score': 0.18}, {'connected_gene': 'ZNF782', 'score': 0.1}]
chr9	GH09I096449	96449479	96451748	2.18	[{'connected_gene': 'HABP4', 'score': 564.31}, {'connected_gene': 'NUTM2G', 'score': 11.22}, {'connected_gene': 'ERCC6L2', 'score': 10.01}, {'connected_gene': 'ENSG00000271155', 'score': 9.83}, {'connected_gene': 'ANKRD18CP', 'score': 5.64}, {'connected_gene': 'CDC14B', 'score': 2.2}, {'connected_gene': 'ZNF510', 'score': 1.68}, {'connected_gene': 'LOC105376163', 'score': 0.11}]
chr9	GH09I096776	96776943	96779042	2.03	[{'connected_gene': 'ZNF510', 'score': 550.77}, {'connected_gene': 'GC09P096778', 'score': 550.77}, {'connected_gene': 'NUTM2G', 'score': 4.86}, {'connected_gene': 'PIR50621', 'score': 0.34}]
chr9	GH09I097510	97510253	97512303	1.34	[{'connected_gene': 'ZNF510', 'score': 39.12}, {'connected_gene': 'ENSG00000224848', 'score': 34.09}, {'connected_gene': 'ZNF322P1', 'score': 32.05}, {'connected_gene': 'NCBP1', 'score': 31.36}, {'connected_gene': 'XPA', 'score': 28.62}, {'connected_gene': 'TSTD2', 'score': 26.74}, {'connected_gene': 'LOC105376168', 'score': 23.41}, {'connected_gene': 'LOC105376171', 'score': 19.05}, {'connected_gene': 'ZNF782', 'score': 14.1}, {'connected_gene': 'LOC441455', 'score': 11.82}, {'connected_gene': 'CCDC180', 'score': 10.66}, {'connected_gene': 'LOC441454', 'score': 10.58}, {'connected_gene': 'TMOD1', 'score': 0.39}]
chr9	GH09I096666	96666703	96667528	0.72	[{'connected_gene': 'ZNF510', 'score': 10.89}, {'connected_gene': 'AAED1', 'score': 0.39}, {'connected_gene': 'ENSG00000224848', 'score': 0.37}]
chr9	GH09I096661	96661799	96661928	0.2	[{'connected_gene': 'ZNF510', 'score': 10.88}, {'connected_gene': 'AAED1', 'score': 0.44}, {'connected_gene': 'ENSG00000224848', 'score': 0.31}]
chr9	GH09I096653	96653191	96656193	1.97	[{'connected_gene': 'AAED1', 'score': 550.77}, {'connected_gene': 'ZNF322P1', 'score': 16.07}, {'connected_gene': 'ZNF510', 'score': 14.76}, {'connected_gene': 'CDC14B', 'score': 12.73}, {'connected_gene': 'LINC00476', 'score': 12.35}, {'connected_gene': 'NCBP1', 'score': 11.17}, {'connected_gene': 'CCDC180', 'score': 11.01}, {'connected_gene': 'ERCC6L2', 'score': 10.83}, {'connected_gene': 'ZNF782', 'score': 9.7}, {'connected_gene': 'CTSV', 'score': 4.06}]
chr9	GH09I096859	96859360	96860502	0.63	[{'connected_gene': 'CCDC180', 'score': 14.9}, {'connected_gene': 'ZNF510', 'score': 14.15}, {'connected_gene': 'ZNF322P1', 'score': 10.87}, {'connected_gene': 'TDRD7', 'score': 10.18}, {'connected_gene': 'ENSG00000224848', 'score': 10.01}, {'connected_gene': 'NUTM2G', 'score': 4.85}, {'connected_gene': 'LOC100132781', 'score': 0.44}, {'connected_gene': 'ZNF782', 'score': 0.1}]
chr9	GH09I096866	96866654	96867923	0.49	[{'connected_gene': 'LOC100132781', 'score': 550.77}, {'connected_gene': 'TDRD7', 'score': 9.33}, {'connected_gene': 'ZNF510', 'score': 0.17}, {'connected_gene': 'ZNF782', 'score': 0.11}]
chr9	GH09I095887	95887519	95888870	0.78	[{'connected_gene': 'LINC00476', 'score': 43.04}, {'connected_gene': 'ZNF510', 'score': 16.3}, {'connected_gene': 'ENSG00000271659', 'score': 13.07}, {'connected_gene': 'RNU2-46P', 'score': 11.31}, {'connected_gene': 'PTCH1', 'score': 9.87}, {'connected_gene': 'ERCC6L2', 'score': 7.88}, {'connected_gene': 'GC09P095906', 'score': 0.37}]
chr9	GH09I096856	96856235	96859261	1.17	[{'connected_gene': 'ENSG00000224848', 'score': 16.71}, {'connected_gene': 'TDRD7', 'score': 10.98}, {'connected_gene': 'LOC100132781', 'score': 0.39}, {'connected_gene': 'ZNF510', 'score': 0.18}, {'connected_gene': 'ZNF782', 'score': 0.1}]