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
ENST00000242108	[[36192757, 36193283], [36193741, 36194811], [36278593, 36278645], [36320723, 36320834], [36324294, 36324429], [36327247, 36327386], [36336601, 36336796], [36338615, 36341152]]	[[36193933, 36194811], [36278593, 36278645], [36320723, 36320834], [36324294, 36324429], [36327247, 36327386], [36336601, 36336796], [36338615, 36338815]]
ENST00000534978	[[36192876, 36193283], [36193741, 36193770], [36193829, 36194811], [36278593, 36278645], [36320723, 36320834], [36324294, 36324429], [36327247, 36327386], [36336601, 36336796], [36338615, 36339334]]	[[36193933, 36194811], [36278593, 36278645], [36320723, 36320834], [36324294, 36324429], [36327247, 36327386], [36336601, 36336796], [36338615, 36338815]]
ENST00000487069	[[36320691, 36320834], [36324294, 36324429], [36327247, 36327386], [36336601, 36336796]]	None
ENST00000468591	[[36327197, 36327386], [36336601, 36336796], [36338615, 36338801]]	None
ENST00000444777	[[36336752, 36336786], [36338746, 36339334]]	[[36336752, 36336786], [36338746, 36338815]]
NM_030636	[[36192835, 36193283], [36193741, 36194811], [36278593, 36278645], [36320723, 36320834], [36324294, 36324429], [36327247, 36327386], [36336601, 36336796], [36338615, 36341152]]	[[36193933, 36194811], [36278593, 36278645], [36320723, 36320834], [36324294, 36324429], [36327247, 36327386], [36336601, 36336796], [36338615, 36338815]]

Promoter

Chrom	Start	End	Description
chr7	36192807	36192827	CAGE_peak_3_at_EEPD1_5end
chr7	36192855	36192883	CAGE_peak_1_at_EEPD1_5end
chr7	36320649	36320687	CAGE_peak_4_at_EEPD1_5end
chr7	36320699	36320726	CAGE_peak_2_at_EEPD1_5end
chr7	36320733	36320746	CAGE_peak_9_at_EEPD1_5end
chr7	36327193	36327205	CAGE_peak_10_at_EEPD1_5end
chr7	36327218	36327238	CAGE_peak_5_at_EEPD1_5end
chr7	36327304	36327316	CAGE_peak_11_at_EEPD1_5end
chr7	36327318	36327333	CAGE_peak_14_at_EEPD1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr7	GH07I036591	36591769	36591896	0.42	[{'connected_gene': 'ELMO1', 'score': 22.2}, {'connected_gene': 'AOAH', 'score': 8.88}, {'connected_gene': 'EEPD1', 'score': 5.35}, {'connected_gene': 'AOAH-IT1', 'score': 0.44}, {'connected_gene': 'GC07P036509', 'score': 0.18}, {'connected_gene': 'GC07P036215', 'score': 0.05}]
chr7	GH07I036515	36515663	36515967	0.54	[{'connected_gene': 'EEPD1', 'score': 8.36}, {'connected_gene': 'ELMO1', 'score': 4.31}, {'connected_gene': 'AOAH', 'score': 2.87}, {'connected_gene': 'GC07P036509', 'score': 0.44}, {'connected_gene': 'AOAH-IT1', 'score': 0.18}, {'connected_gene': 'GC07P036215', 'score': 0.06}]
chr7	GH07I036188	36188296	36188601	0.75	[{'connected_gene': 'EEPD1', 'score': 7.48}, {'connected_gene': 'HERPUD2', 'score': 1.54}, {'connected_gene': 'PIR39521', 'score': 0.44}, {'connected_gene': 'PIR31290', 'score': 0.39}]
chr7	GH07I036190	36190402	36193799	1.33	[{'connected_gene': 'EEPD1', 'score': 16.52}, {'connected_gene': 'HERPUD2', 'score': 2.78}, {'connected_gene': 'PIR39521', 'score': 0.77}, {'connected_gene': 'PIR31290', 'score': 0.37}]
chr7	GH07I036261	36260972	36266400	1.45	[{'connected_gene': 'EEPD1', 'score': 36.79}, {'connected_gene': 'AOAH', 'score': 15.43}, {'connected_gene': 'SEPT7', 'score': 2.29}, {'connected_gene': 'ENSG00000229679', 'score': 0.29}, {'connected_gene': 'ENSG00000234457', 'score': 0.26}, {'connected_gene': 'GC07P036215', 'score': 0.25}]
chr7	GH07I036276	36276401	36289028	1.7	[{'connected_gene': 'EEPD1', 'score': 28.33}, {'connected_gene': 'AOAH', 'score': 13.59}, {'connected_gene': 'ENSG00000260070', 'score': 4.61}, {'connected_gene': 'SEPT7', 'score': 1.21}, {'connected_gene': 'ENSG00000234457', 'score': 0.34}, {'connected_gene': 'ENSG00000229679', 'score': 0.23}, {'connected_gene': 'GC07P036215', 'score': 0.2}]
chr7	GH07I036242	36242969	36244945	0.2	[{'connected_gene': 'EEPD1', 'score': 11.45}, {'connected_gene': 'LOC101930085', 'score': 4.09}, {'connected_gene': 'ENSG00000229679', 'score': 0.39}, {'connected_gene': 'GC07P036215', 'score': 0.31}, {'connected_gene': 'ENSG00000234457', 'score': 0.21}]
chr7	GH07I036244	36244960	36246638	0.2	[{'connected_gene': 'EEPD1', 'score': 10.96}, {'connected_gene': 'LOC101930085', 'score': 4.35}, {'connected_gene': 'ENSG00000229679', 'score': 0.39}, {'connected_gene': 'GC07P036215', 'score': 0.29}, {'connected_gene': 'ENSG00000234457', 'score': 0.22}]
chr7	GH07I036130	36130678	36131859	0.38	[{'connected_gene': 'EEPD1', 'score': 18.37}, {'connected_gene': 'LOC101928618', 'score': 6.75}, {'connected_gene': 'MARK2P7', 'score': 0.37}, {'connected_gene': 'MARK2P13', 'score': 0.34}]
chr7	GH07I036151	36151716	36156916	2.17	[{'connected_gene': 'EEPD1', 'score': 557.84}, {'connected_gene': 'LOC101928618', 'score': 6.72}, {'connected_gene': 'PIR31290', 'score': 0.34}]
chr7	GH07I036126	36126763	36129606	1.06	[{'connected_gene': 'EEPD1', 'score': 19.44}, {'connected_gene': 'MARK2P13', 'score': 9.81}, {'connected_gene': 'LOC101928618', 'score': 9.06}, {'connected_gene': 'MARK2P7', 'score': 0.37}]
chr7	GH07I036199	36199026	36199275	0.76	[{'connected_gene': 'EEPD1', 'score': 3.09}, {'connected_gene': 'PIR39521', 'score': 0.77}, {'connected_gene': 'PIR43546', 'score': 0.44}]
chr7	GH07I036289	36289705	36293052	1.39	[{'connected_gene': 'EEPD1', 'score': 6.71}, {'connected_gene': 'ENSG00000234457', 'score': 0.39}, {'connected_gene': 'ENSG00000229679', 'score': 0.21}, {'connected_gene': 'GC07P036215', 'score': 0.18}]
chr7	GH07I036202	36202201	36203530	0.92	[{'connected_gene': 'EEPD1', 'score': 8.66}, {'connected_gene': 'PIR43546', 'score': 0.44}, {'connected_gene': 'PIR39521', 'score': 0.44}]
chr7	GH07I036185	36185527	36187270	0.46	[{'connected_gene': 'EEPD1', 'score': 8.76}, {'connected_gene': 'PIR39521', 'score': 0.44}, {'connected_gene': 'PIR31290', 'score': 0.39}]
chr7	GH07I036274	36274621	36275422	0.2	[{'connected_gene': 'EEPD1', 'score': 4.63}, {'connected_gene': 'ENSG00000234457', 'score': 0.29}, {'connected_gene': 'ENSG00000229679', 'score': 0.26}, {'connected_gene': 'GC07P036215', 'score': 0.22}]
chr7	GH07I036182	36182938	36183561	0.8	[{'connected_gene': 'EEPD1', 'score': 8.91}, {'connected_gene': 'PIR31290', 'score': 0.44}, {'connected_gene': 'PIR39521', 'score': 0.39}]
chr7	GH07I036258	36258019	36259252	1.22	[{'connected_gene': 'EEPD1', 'score': 5.4}, {'connected_gene': 'ENSG00000229679', 'score': 0.31}, {'connected_gene': 'GC07P036215', 'score': 0.26}, {'connected_gene': 'ENSG00000234457', 'score': 0.25}]
chr7	GH07I036272	36272355	36274400	1.29	[{'connected_gene': 'EEPD1', 'score': 10.42}, {'connected_gene': 'ENSG00000234457', 'score': 0.29}, {'connected_gene': 'ENSG00000229679', 'score': 0.26}, {'connected_gene': 'GC07P036215', 'score': 0.22}]
chr7	GH07I036157	36157337	36158561	1.15	[{'connected_gene': 'EEPD1', 'score': 6.3}, {'connected_gene': 'PIR31290', 'score': 0.37}]
chr7	GH07I036162	36162152	36162221	0.87	[{'connected_gene': 'EEPD1', 'score': 0.44}, {'connected_gene': 'PIR31290', 'score': 0.39}]
chr7	GH07I035689	35689620	35698733	2.49	[{'connected_gene': 'HERPUD2', 'score': 596.77}, {'connected_gene': 'LOC101930085', 'score': 576.74}, {'connected_gene': 'PIR44238', 'score': 550.77}, {'connected_gene': 'PIR41144', 'score': 550.77}, {'connected_gene': 'GC07P035696', 'score': 550.77}, {'connected_gene': 'PIR39339', 'score': 550.77}, {'connected_gene': 'PIR39439', 'score': 550.77}, {'connected_gene': 'GC07P035695', 'score': 550.77}, {'connected_gene': 'EEPD1', 'score': 3.72}, {'connected_gene': 'SEPT7', 'score': 1.57}, {'connected_gene': 'PIR50887', 'score': 0.77}, {'connected_gene': 'PIR56078', 'score': 0.77}, {'connected_gene': 'LOC101928421', 'score': 0.21}]
chr7	GH07I036118	36118602	36119868	0.96	[{'connected_gene': 'LOC101928618', 'score': 15.59}, {'connected_gene': 'EEPD1', 'score': 6.16}, {'connected_gene': 'MARK2P13', 'score': 0.44}, {'connected_gene': 'MARK2P7', 'score': 0.31}]
chr7	GH07I036164	36164315	36165901	1.24	[{'connected_gene': 'LOC101928618', 'score': 5.66}, {'connected_gene': 'EEPD1', 'score': 5.46}, {'connected_gene': 'PIR31290', 'score': 0.44}]
chr7	GH07I036601	36601001	36601430	1.13	[{'connected_gene': 'AOAH-IT1', 'score': 550.77}, {'connected_gene': 'AOAH', 'score': 14.87}, {'connected_gene': 'ELMO1', 'score': 7.31}, {'connected_gene': 'EEPD1', 'score': 5.16}, {'connected_gene': 'GC07P036215', 'score': 0.05}]
chr7	GH07I036115	36115047	36117758	1.11	[{'connected_gene': 'MARK2P13', 'score': 14.3}, {'connected_gene': 'LOC101928618', 'score': 11.8}, {'connected_gene': 'EEPD1', 'score': 6.82}, {'connected_gene': 'MARK2P7', 'score': 0.29}]
chr7	GH07I036109	36109066	36109540	0.38	[{'connected_gene': 'MARK2P13', 'score': 557.78}, {'connected_gene': 'LOC101928618', 'score': 10.71}, {'connected_gene': 'EEPD1', 'score': 5.9}]
chr7	GH07I036969	36969165	36972740	1.33	[{'connected_gene': 'MIR1200', 'score': 11.44}, {'connected_gene': 'ELMO1-AS1', 'score': 11.4}, {'connected_gene': 'EEPD1', 'score': 4.29}, {'connected_gene': 'PIR62652', 'score': 0.77}, {'connected_gene': 'ELMO1', 'score': 0.04}]
chr7	GH07I036492	36492825	36493007	0.22	[{'connected_gene': 'ENSG00000237400', 'score': 11.21}, {'connected_gene': 'EEPD1', 'score': 5.17}, {'connected_gene': 'ELMO1', 'score': 5.14}, {'connected_gene': 'AOAH', 'score': 1.94}, {'connected_gene': 'GC07P036509', 'score': 0.37}, {'connected_gene': 'PIR55931', 'score': 0.31}, {'connected_gene': 'GC07P036215', 'score': 0.06}]
chr7	GH07I036175	36175529	36176600	0.98	[{'connected_gene': 'PIR31290', 'score': 550.77}, {'connected_gene': 'EEPD1', 'score': 15.88}, {'connected_gene': 'HERPUD2', 'score': 3.26}, {'connected_gene': 'PIR39521', 'score': 0.37}]
chr7	GH07I036195	36195968	36196021	0.77	[{'connected_gene': 'PIR39521', 'score': 550.77}, {'connected_gene': 'PIR43546', 'score': 0.39}, {'connected_gene': 'EEPD1', 'score': 0.26}]
chr7	GH07I036203	36203552	36203667	0.49	[{'connected_gene': 'PIR43546', 'score': 0.77}, {'connected_gene': 'PIR39521', 'score': 0.44}, {'connected_gene': 'EEPD1', 'score': 0.23}]
chr7	GH07I036290	36289222	36289439	0.4	[{'connected_gene': 'ENSG00000234457', 'score': 0.37}, {'connected_gene': 'ENSG00000229679', 'score': 0.22}, {'connected_gene': 'GC07P036215', 'score': 0.19}, {'connected_gene': 'EEPD1', 'score': 0.12}]
chr7	GH07I036214	36214282	36216401	1.16	[{'connected_gene': 'GC07P036215', 'score': 550.77}, {'connected_gene': 'EEPD1', 'score': 5.35}, {'connected_gene': 'PIR43546', 'score': 0.44}]
chr7	GH07I036232	36232540	36233564	1.14	[{'connected_gene': 'ENSG00000229679', 'score': 550.77}, {'connected_gene': 'GC07P036215', 'score': 0.37}, {'connected_gene': 'ENSG00000234457', 'score': 0.19}, {'connected_gene': 'EEPD1', 'score': 0.18}]
chr7	GH07I036300	36300029	36301233	0.74	[{'connected_gene': 'ENSG00000260070', 'score': 5.02}, {'connected_gene': 'ENSG00000234457', 'score': 0.44}, {'connected_gene': 'ENSG00000229679', 'score': 0.2}, {'connected_gene': 'GC07P036215', 'score': 0.17}, {'connected_gene': 'EEPD1', 'score': 0.11}]
chr7	GH07I036260	36260512	36260661	0.63	[{'connected_gene': 'ENSG00000229679', 'score': 0.31}, {'connected_gene': 'GC07P036215', 'score': 0.25}, {'connected_gene': 'ENSG00000234457', 'score': 0.25}, {'connected_gene': 'EEPD1', 'score': 0.14}]
chr7	GH07I036227	36227207	36228131	0.6	[{'connected_gene': 'ENSG00000228770', 'score': 550.77}, {'connected_gene': 'GC07P036215', 'score': 0.39}, {'connected_gene': 'EEPD1', 'score': 0.19}]
chr7	GH07I036225	36225592	36225801	0.4	[{'connected_gene': 'ENSG00000228770', 'score': 0.77}, {'connected_gene': 'GC07P036215', 'score': 0.39}, {'connected_gene': 'EEPD1', 'score': 0.19}]
chr7	GH07I036204	36204881	36211322	1.42	[{'connected_gene': 'PIR43546', 'score': 550.77}, {'connected_gene': 'EEPD1', 'score': 24.09}, {'connected_gene': 'PIR39521', 'score': 0.39}]
chr7	GH07I036180	36180400	36180601	0.2	[{'connected_gene': 'PIR31290', 'score': 0.44}, {'connected_gene': 'PIR39521', 'score': 0.37}, {'connected_gene': 'EEPD1', 'score': 0.31}]
chr7	GH07I036196	36196112	36196321	0.64	[{'connected_gene': 'PIR39521', 'score': 550.77}, {'connected_gene': 'PIR43546', 'score': 0.39}, {'connected_gene': 'EEPD1', 'score': 0.26}]