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
ENST00000607768	[[42578080, 42578499], [42580351, 42580483], [42615584, 42615647]]	None
ENST00000423797	[[42592809, 42593014], [42615588, 42615796], [42640838, 42640900], [42642622, 42642690], [42651960, 42652228]]	None
ENST00000468711	[[42560685, 42561009], [42580351, 42580483], [42588229, 42588289]]	[[42560913, 42561009], [42580351, 42580483], [42588229, 42588289]]
ENST00000378669	[[42576477, 42578499], [42580351, 42580483], [42588229, 42588988], [42596007, 42596150]]	[[42578358, 42578499], [42580351, 42580483], [42588229, 42588301]]
ENST00000482463	[[42577646, 42578499], [42580351, 42580483], [42586245, 42587178]]	None
ENST00000234301	[[42577646, 42578499], [42580351, 42580483], [42588229, 42588356]]	[[42578358, 42578499], [42580351, 42580483], [42588229, 42588301]]
ENST00000464443	[[42577991, 42578499], [42580351, 42580483], [42588077, 42588332]]	[[42588181, 42588301]]
ENST00000463055	[[42580026, 42580483], [42588229, 42588312]]	[[42580315, 42580483], [42588229, 42588301]]
NM_001319038	[[42562700, 42562885], [42580351, 42580483], [42588229, 42588383]]	[[42562876, 42562885], [42580351, 42580483], [42588229, 42588301]]
NR_134948	[[42577635, 42578499], [42580351, 42580483], [42586245, 42587178]]	None
NR_134947	[[42577635, 42578499], [42580351, 42580483], [42588077, 42588383]]	None
NM_004718	[[42577635, 42578499], [42580351, 42580483], [42588229, 42588383]]	[[42578358, 42578499], [42580351, 42580483], [42588229, 42588301]]
NM_001319040	[[42577635, 42578495], [42580351, 42580483], [42588229, 42588383]]	[[42578471, 42578495], [42580351, 42580483], [42588229, 42588301]]
NM_001319036	[[42577635, 42578499], [42580351, 42580483], [42588229, 42588988], [42596007, 42596097]]	[[42578358, 42578499], [42580351, 42580483], [42588229, 42588301]]
NM_001319037	[[42577635, 42578499], [42580351, 42580483], [42596007, 42596097]]	[[42578358, 42578499], [42580351, 42580483], [42596007, 42596070]]

Promoter

Chrom	Start	End	Description
chr2	42588303	42588337	CAGE_peak_2_at_COX7A2L_5end
chr2	42588338	42588366	CAGE_peak_1_at_COX7A2L_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I042371	42371221	42372963	0.59	[{'connected_gene': 'COX7A2L', 'score': 48.78}, {'connected_gene': 'EML4', 'score': 5.51}, {'connected_gene': 'HAAO', 'score': 5.08}, {'connected_gene': 'GC02M042355', 'score': 0.39}, {'connected_gene': 'GC02P042392', 'score': 0.34}]
chr2	GH02I042419	42419707	42422188	0.97	[{'connected_gene': 'COX7A2L', 'score': 41.73}, {'connected_gene': 'EML4', 'score': 5.91}, {'connected_gene': 'LOC105374537', 'score': 0.77}, {'connected_gene': 'GC02M042414', 'score': 0.44}]
chr2	GH02I042183	42183274	42184590	0.89	[{'connected_gene': 'COX7A2L', 'score': 34.25}, {'connected_gene': 'EML4', 'score': 18.26}, {'connected_gene': 'LOC102723824', 'score': 0.39}, {'connected_gene': 'GC02M042233', 'score': 0.25}]
chr2	GH02I042295	42295933	42299273	0.56	[{'connected_gene': 'COX7A2L', 'score': 29.69}, {'connected_gene': 'EML4', 'score': 20.52}, {'connected_gene': 'PIR61006', 'score': 0.44}, {'connected_gene': 'GC02P042259', 'score': 0.28}]
chr2	GH02I042861	42861382	42861981	0.2	[{'connected_gene': 'COX7A2L', 'score': 4.58}, {'connected_gene': 'PIR35642', 'score': 0.44}, {'connected_gene': 'GC02P042853', 'score': 0.44}, {'connected_gene': 'LOC105374567', 'score': 0.23}, {'connected_gene': 'GC02P042660', 'score': 0.08}]
chr2	GH02I042340	42340937	42345074	1.07	[{'connected_gene': 'COX7A2L', 'score': 67.1}, {'connected_gene': 'LOC102723824', 'score': 10.97}, {'connected_gene': 'EML4', 'score': 10.97}, {'connected_gene': 'GC02M042355', 'score': 0.39}, {'connected_gene': 'GC02P042307', 'score': 0.28}]
chr2	GH02I042223	42223419	42223855	0.6	[{'connected_gene': 'COX7A2L', 'score': 29.89}, {'connected_gene': 'LOC102723824', 'score': 11.8}, {'connected_gene': 'EML4', 'score': 11.8}, {'connected_gene': 'GC02M042233', 'score': 0.39}]
chr2	GH02I042358	42358792	42362763	2.07	[{'connected_gene': 'COX7A2L', 'score': 569.01}, {'connected_gene': 'GC02M042355', 'score': 0.77}, {'connected_gene': 'GC02P042392', 'score': 0.29}]
chr2	GH02I042369	42369001	42369400	0.57	[{'connected_gene': 'COX7A2L', 'score': 19.92}, {'connected_gene': 'GC02M042355', 'score': 0.39}, {'connected_gene': 'GC02P042392', 'score': 0.34}]
chr2	GH02I042905	42905200	42909164	1.29	[{'connected_gene': 'ZFP36L2', 'score': 12.11}, {'connected_gene': 'ENSG00000234936', 'score': 12.11}, {'connected_gene': 'OXER1', 'score': 6.43}, {'connected_gene': 'HAAO', 'score': 6.37}, {'connected_gene': 'FTOP1', 'score': 5.76}, {'connected_gene': 'COX7A2L', 'score': 5.19}, {'connected_gene': 'LOC105374568', 'score': 0.37}, {'connected_gene': 'PIR35642', 'score': 0.26}, {'connected_gene': 'GC02P042853', 'score': 0.23}, {'connected_gene': 'LOC105374567', 'score': 0.15}, {'connected_gene': 'GC02P042660', 'score': 0.07}]
chr2	GH02I042545	42543837	42544450	0.2	[{'connected_gene': 'MTA3', 'score': 11.11}, {'connected_gene': 'KCNG3', 'score': 11.1}, {'connected_gene': 'COX7A2L', 'score': 8.46}, {'connected_gene': 'HAAO', 'score': 7.48}, {'connected_gene': 'GC02M042525', 'score': 0.44}, {'connected_gene': 'GC02P042587', 'score': 0.26}]
chr2	GH02I042189	42189268	42198221	1.24	[{'connected_gene': 'EML4', 'score': 39.11}, {'connected_gene': 'COX7A2L', 'score': 36.15}, {'connected_gene': 'LOC102723824', 'score': 12.85}, {'connected_gene': 'HAAO', 'score': 4.71}, {'connected_gene': 'GC02M042233', 'score': 0.28}]
chr2	GH02I042140	42140036	42143846	1.7	[{'connected_gene': 'EML4', 'score': 26.86}, {'connected_gene': 'COX7A2L', 'score': 13.29}, {'connected_gene': 'LOC102723824', 'score': 12.16}, {'connected_gene': 'OXER1', 'score': 5.29}, {'connected_gene': 'HAAO', 'score': 4.99}, {'connected_gene': 'LOC105374531', 'score': 0.26}]
chr2	GH02I042097	42097001	42109815	1.73	[{'connected_gene': 'EML4', 'score': 35.71}, {'connected_gene': 'PKDCC', 'score': 15.66}, {'connected_gene': 'LOC102723824', 'score': 12.03}, {'connected_gene': 'COX7A2L', 'score': 9.86}, {'connected_gene': 'LOC105374531', 'score': 0.44}]
chr2	GH02I042862	42862292	42864930	0.31	[{'connected_gene': 'EML4', 'score': 9.93}, {'connected_gene': 'HAAO', 'score': 7.32}, {'connected_gene': 'OXER1', 'score': 5.69}, {'connected_gene': 'COX7A2L', 'score': 4.55}, {'connected_gene': 'PIR35642', 'score': 0.77}, {'connected_gene': 'GC02P042853', 'score': 0.44}, {'connected_gene': 'LOC105374567', 'score': 0.22}, {'connected_gene': 'GC02P042660', 'score': 0.08}]
chr2	GH02I042921	42921413	42934574	1.7	[{'connected_gene': 'EML4', 'score': 7.08}, {'connected_gene': 'OXER1', 'score': 6.54}, {'connected_gene': 'HAAO', 'score': 5.64}, {'connected_gene': 'COX7A2L', 'score': 4.53}, {'connected_gene': 'LOC105374568', 'score': 0.44}, {'connected_gene': 'GC02M042943', 'score': 0.37}, {'connected_gene': 'GC02P042853', 'score': 0.19}, {'connected_gene': 'LOC105374567', 'score': 0.13}, {'connected_gene': 'GC02P042660', 'score': 0.06}]
chr2	GH02I042115	42115922	42119452	1.37	[{'connected_gene': 'EML4', 'score': 23.63}, {'connected_gene': 'LOC102723824', 'score': 11.24}, {'connected_gene': 'COX7A2L', 'score': 6.39}, {'connected_gene': 'HAAO', 'score': 5.22}, {'connected_gene': 'LOC105374531', 'score': 0.37}]
chr2	GH02I042123	42123161	42139908	1.84	[{'connected_gene': 'EML4', 'score': 63.97}, {'connected_gene': 'LOC102723824', 'score': 12.66}, {'connected_gene': 'COX7A2L', 'score': 8.85}, {'connected_gene': 'OXER1', 'score': 5.69}, {'connected_gene': 'HAAO', 'score': 5.1}, {'connected_gene': 'LOC105374531', 'score': 0.29}]
chr2	GH02I042341	42340165	42340226	0.36	[{'connected_gene': 'EML4', 'score': 13.41}, {'connected_gene': 'LOC102723824', 'score': 10.97}, {'connected_gene': 'COX7A2L', 'score': 10.74}, {'connected_gene': 'GC02M042355', 'score': 0.37}, {'connected_gene': 'GC02P042307', 'score': 0.29}]
chr2	GH02I042224	42224000	42224600	0.63	[{'connected_gene': 'EML4', 'score': 16.79}, {'connected_gene': 'LOC102723824', 'score': 11.8}, {'connected_gene': 'COX7A2L', 'score': 7.85}, {'connected_gene': 'GC02M042233', 'score': 0.44}]
chr2	GH02I042214	42214601	42215400	0.46	[{'connected_gene': 'EML4', 'score': 22.59}, {'connected_gene': 'LOC102723824', 'score': 11.39}, {'connected_gene': 'COX7A2L', 'score': 6.47}, {'connected_gene': 'GC02M042233', 'score': 0.37}]
chr2	GH02I042168	42168602	42173725	2.03	[{'connected_gene': 'EML4', 'score': 568.12}, {'connected_gene': 'LOC102723824', 'score': 550.77}, {'connected_gene': 'COX7A2L', 'score': 27.89}, {'connected_gene': 'GC02M042233', 'score': 0.21}]
chr2	GH02I042561	42561578	42564610	0.75	[{'connected_gene': 'HAAO', 'score': 13.0}, {'connected_gene': 'EML4', 'score': 11.74}, {'connected_gene': 'KCNG3', 'score': 11.02}, {'connected_gene': 'MTA3', 'score': 11.02}, {'connected_gene': 'COX7A2L', 'score': 10.05}, {'connected_gene': 'GC02P042587', 'score': 0.34}, {'connected_gene': 'GC02M042525', 'score': 0.31}]
chr2	GH02I042458	42458833	42459206	0.22	[{'connected_gene': 'KCNG3', 'score': 11.64}, {'connected_gene': 'MTA3', 'score': 11.64}, {'connected_gene': 'COX7A2L', 'score': 9.74}, {'connected_gene': 'VDAC1P13', 'score': 0.77}, {'connected_gene': 'GC02M042444', 'score': 0.39}]
chr2	GH02I042663	42663130	42664000	1.1	[{'connected_gene': 'KCNG3', 'score': 11.87}, {'connected_gene': 'MTA3', 'score': 11.87}, {'connected_gene': 'COX7A2L', 'score': 9.48}, {'connected_gene': 'GC02P042660', 'score': 0.77}, {'connected_gene': 'ENSG00000226523', 'score': 0.37}]
chr2	GH02I042492	42492741	42496124	2.19	[{'connected_gene': 'KCNG3', 'score': 550.77}, {'connected_gene': 'MTA3', 'score': 550.77}, {'connected_gene': 'HAAO', 'score': 7.96}, {'connected_gene': 'COX7A2L', 'score': 7.52}]
chr2	GH02I042541	42541225	42542566	0.31	[{'connected_gene': 'OXER1', 'score': 17.38}, {'connected_gene': 'EML4', 'score': 11.59}, {'connected_gene': 'KCNG3', 'score': 11.11}, {'connected_gene': 'MTA3', 'score': 11.11}, {'connected_gene': 'HAAO', 'score': 6.82}, {'connected_gene': 'COX7A2L', 'score': 4.46}, {'connected_gene': 'GC02M042525', 'score': 0.44}, {'connected_gene': 'GC02P042587', 'score': 0.25}]
chr2	GH02I043024	43024201	43028038	1.28	[{'connected_gene': 'PLEKHH2', 'score': 16.93}, {'connected_gene': 'RNU6-242P', 'score': 12.36}, {'connected_gene': 'COX7A2L', 'score': 5.51}, {'connected_gene': 'LINC01819', 'score': 0.39}, {'connected_gene': 'GC02M043009', 'score': 0.37}, {'connected_gene': 'GC02P042853', 'score': 0.09}, {'connected_gene': 'GC02P042660', 'score': 0.05}]
chr2	GH02I043030	43030640	43034049	0.94	[{'connected_gene': 'RNU6-242P', 'score': 12.8}, {'connected_gene': 'COX7A2L', 'score': 4.79}, {'connected_gene': 'LINC01819', 'score': 0.44}, {'connected_gene': 'GC02M043009', 'score': 0.34}, {'connected_gene': 'GC02P042853', 'score': 0.1}, {'connected_gene': 'GC02P042660', 'score': 0.05}]
chr2	GH02I042095	42095783	42096565	1.24	[{'connected_gene': 'LOC105374531', 'score': 550.77}, {'connected_gene': 'EML4', 'score': 17.97}, {'connected_gene': 'LOC102723824', 'score': 12.02}, {'connected_gene': 'PKDCC', 'score': 10.79}, {'connected_gene': 'COX7A2L', 'score': 9.86}]
chr2	GH02I042469	42469414	42469824	0.25	[{'connected_gene': 'RPS13P3', 'score': 550.77}, {'connected_gene': 'GC02P042469', 'score': 550.77}, {'connected_gene': 'COX7A2L', 'score': 17.13}, {'connected_gene': 'VDAC1P13', 'score': 0.44}, {'connected_gene': 'KCNG3', 'score': 0.34}]
chr2	GH02I042513	42513321	42513590	0.64	[{'connected_gene': 'GC02P042512', 'score': 550.77}, {'connected_gene': 'ENSG00000273913', 'score': 550.77}, {'connected_gene': 'COX7A2L', 'score': 9.66}, {'connected_gene': 'EML4', 'score': 4.07}, {'connected_gene': 'MTA3', 'score': 0.37}, {'connected_gene': 'ENSG00000215263', 'score': 0.37}]
chr2	GH02I042233	42233662	42235156	0.76	[{'connected_gene': 'GC02M042233', 'score': 550.77}, {'connected_gene': 'COX7A2L', 'score': 8.33}, {'connected_gene': 'EML4', 'score': 7.0}, {'connected_gene': 'GC02M042238', 'score': 0.77}]
chr2	GH02I042346	42346961	42347110	0.8	[{'connected_gene': 'GC02M042355', 'score': 0.39}, {'connected_gene': 'GC02P042307', 'score': 0.28}, {'connected_gene': 'COX7A2L', 'score': 0.18}]
chr2	GH02I042853	42853064	42855605	1.2	[{'connected_gene': 'GC02P042853', 'score': 550.77}, {'connected_gene': 'HAAO', 'score': 9.47}, {'connected_gene': 'COX7A2L', 'score': 4.95}, {'connected_gene': 'PIR35642', 'score': 0.39}, {'connected_gene': 'LOC105374567', 'score': 0.25}, {'connected_gene': 'GC02P042660', 'score': 0.08}]
chr2	GH02I042865	42865903	42867552	0.78	[{'connected_gene': 'PIR35642', 'score': 550.77}, {'connected_gene': 'HAAO', 'score': 6.05}, {'connected_gene': 'COX7A2L', 'score': 4.37}, {'connected_gene': 'GC02P042853', 'score': 0.39}, {'connected_gene': 'LOC105374567', 'score': 0.22}, {'connected_gene': 'GC02P042660', 'score': 0.08}]