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
ENST00000252490	[[45449242, 45449332], [45451722, 45451790], [45451957, 45452117], [45452415, 45452814]]	[[45451735, 45451790], [45451957, 45452117], [45452415, 45452506]]
ENST00000592257	[[45449291, 45449332], [45451722, 45451790], [45452019, 45452117], [45452415, 45452652]]	[[45451735, 45451790], [45452019, 45452108]]
ENST00000591597	[[45449312, 45449332], [45451722, 45451790], [45451957, 45452075], [45452415, 45452656]]	[[45451735, 45451790], [45451957, 45452075], [45452415, 45452506]]
ENST00000590360	[[45450459, 45450568], [45451722, 45451790], [45451957, 45452117], [45452415, 45452822]]	[[45451735, 45451790], [45451957, 45452117], [45452415, 45452506]]
ENST00000585786	[[45451542, 45451790], [45451957, 45452589]]	[[45451735, 45451790], [45451957, 45452121]]
NM_000483	[[45449238, 45449332], [45451722, 45451790], [45451957, 45452117], [45452415, 45452822]]	[[45451735, 45451790], [45451957, 45452117], [45452415, 45452506]]

Promoter

Chrom	Start	End	Description
chr19	45449228	45449235	CAGE_peak_3_at_APOC2_5end
chr19	45449266	45449297	CAGE_peak_2_at_APOC2_5end
chr19	45449301	45449313	CAGE_peak_1_at_APOC2_5end
chr19	45451707	45451718	CAGE_peak_6_at_APOC2_5end
chr19	45451730	45451756	CAGE_peak_4_at_APOC2_5end
chr19	45451955	45451977	CAGE_peak_5_at_APOC2_5end
chr19	45451987	45452008	CAGE_peak_8_at_APOC2_5end
chr19	45452043	45452061	CAGE_peak_7_at_APOC2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I045019	45019920	45020551	0.69	[{'connected_gene': 'GEMIN7', 'score': 11.9}, {'connected_gene': 'ZNF296', 'score': 11.9}, {'connected_gene': 'PPP1R37', 'score': 11.87}, {'connected_gene': 'APOC2', 'score': 6.07}, {'connected_gene': 'CLASRP', 'score': 0.37}, {'connected_gene': 'RELB', 'score': 0.37}]
chr19	GH19I045000	45000493	45003019	1.98	[{'connected_gene': 'RELB', 'score': 550.77}, {'connected_gene': 'ZNF225', 'score': 19.83}, {'connected_gene': 'ZNF180', 'score': 16.06}, {'connected_gene': 'ZNF234', 'score': 15.97}, {'connected_gene': 'ZNF224', 'score': 15.91}, {'connected_gene': 'ZNF284', 'score': 12.35}, {'connected_gene': 'ZNF227', 'score': 12.14}, {'connected_gene': 'APOC2', 'score': 12.0}, {'connected_gene': 'CCDC61', 'score': 11.28}, {'connected_gene': 'CLASRP', 'score': 11.26}, {'connected_gene': 'IRF2BP1', 'score': 10.07}, {'connected_gene': 'ZNF230', 'score': 9.71}, {'connected_gene': 'CLPTM1', 'score': 5.96}]
chr19	GH19I044943	44943692	44944247	1.12	[{'connected_gene': 'APOC4', 'score': 550.77}, {'connected_gene': 'APOC4-APOC2', 'score': 550.77}, {'connected_gene': 'APOC2', 'score': 26.54}]
chr19	GH19I044942	44942225	44942284	0.96	[{'connected_gene': 'APOC4', 'score': 550.77}, {'connected_gene': 'APOC4-APOC2', 'score': 550.77}, {'connected_gene': 'APOC2', 'score': 0.77}]
chr19	GH19I044960	44960730	44962093	0.49	[{'connected_gene': 'APOC2', 'score': 13.97}, {'connected_gene': 'RELB', 'score': 12.36}, {'connected_gene': 'GEMIN7', 'score': 11.41}, {'connected_gene': 'PPP1R37', 'score': 11.4}, {'connected_gene': 'ZNF296', 'score': 11.4}, {'connected_gene': 'RNU6-611P', 'score': 11.37}, {'connected_gene': 'APOE', 'score': 11.31}, {'connected_gene': 'CLPTM1', 'score': 0.44}, {'connected_gene': 'GC19M044995', 'score': 0.29}]
chr19	GH19I044951	44951126	44952269	1.16	[{'connected_gene': 'APOC2', 'score': 26.41}, {'connected_gene': 'APOE', 'score': 13.28}, {'connected_gene': 'MARK4', 'score': 2.4}, {'connected_gene': 'ENSG00000267114', 'score': 0.77}]
chr19	GH19I044945	44945053	44946846	1.56	[{'connected_gene': 'APOC2', 'score': 577.73}, {'connected_gene': 'APOC4', 'score': 0.77}, {'connected_gene': 'APOC4-APOC2', 'score': 0.77}]
chr19	GH19I044934	44934329	44937222	0.95	[{'connected_gene': 'APOC2', 'score': 13.18}, {'connected_gene': 'APOC1', 'score': 7.5}, {'connected_gene': 'GC19P044927', 'score': 0.44}, {'connected_gene': 'APOC4', 'score': 0.44}, {'connected_gene': 'APOC4-APOC2', 'score': 0.44}]
chr19	GH19I045005	45005179	45009445	0.86	[{'connected_gene': 'APOC2', 'score': 17.73}, {'connected_gene': 'CLPTM1', 'score': 14.89}, {'connected_gene': 'CLASRP', 'score': 13.05}, {'connected_gene': 'ENSG00000267114', 'score': 12.68}, {'connected_gene': 'RNU6-611P', 'score': 12.48}, {'connected_gene': 'GEMIN7', 'score': 11.79}, {'connected_gene': 'ZNF296', 'score': 11.79}, {'connected_gene': 'PPP1R37', 'score': 11.77}, {'connected_gene': 'ZNF223', 'score': 11.58}, {'connected_gene': 'ZNF227', 'score': 10.64}, {'connected_gene': 'APOE', 'score': 10.42}, {'connected_gene': 'QPCTL', 'score': 10.41}, {'connected_gene': 'ZNF235', 'score': 10.28}, {'connected_gene': 'ZNF226', 'score': 9.9}, {'connected_gene': 'RELB', 'score': 0.44}]
chr19	GH19I044989	44989283	44989452	0.63	[{'connected_gene': 'APOC2', 'score': 23.7}, {'connected_gene': 'GC19M044995', 'score': 0.44}, {'connected_gene': 'CLPTM1', 'score': 0.29}]
chr19	GH19I045015	45015317	45017910	1.02	[{'connected_gene': 'APOC2', 'score': 18.51}, {'connected_gene': 'CLASRP', 'score': 13.1}, {'connected_gene': 'RNU6-611P', 'score': 12.51}, {'connected_gene': 'GEMIN7', 'score': 11.9}, {'connected_gene': 'ZNF296', 'score': 11.9}, {'connected_gene': 'PPP1R37', 'score': 11.87}, {'connected_gene': 'APOE', 'score': 10.41}, {'connected_gene': 'RELB', 'score': 0.37}]
chr19	GH19I044923	44923872	44928150	1.43	[{'connected_gene': 'APOC1P1', 'score': 560.61}, {'connected_gene': 'GC19P044927', 'score': 550.77}, {'connected_gene': 'APOC2', 'score': 10.5}, {'connected_gene': 'APOC4', 'score': 9.2}, {'connected_gene': 'IGSF23', 'score': 7.96}, {'connected_gene': 'BCAM', 'score': 6.1}, {'connected_gene': 'APOE', 'score': 4.67}, {'connected_gene': 'APOC1', 'score': 3.32}, {'connected_gene': 'GC19P044915', 'score': 0.39}]
chr19	GH19I044728	44728463	44728767	0.35	[{'connected_gene': 'IGSF23', 'score': 2.82}, {'connected_gene': 'CLASRP', 'score': 1.56}, {'connected_gene': 'APOC2', 'score': 1.49}, {'connected_gene': 'ENSG00000252200', 'score': 0.77}, {'connected_gene': 'GC19M044726', 'score': 0.77}, {'connected_gene': 'BCL3', 'score': 0.37}]
chr19	GH19I044953	44953570	44956992	2.07	[{'connected_gene': 'CLPTM1', 'score': 568.27}, {'connected_gene': 'ENSG00000267114', 'score': 550.77}, {'connected_gene': 'APOC2', 'score': 19.85}, {'connected_gene': 'GC19M044995', 'score': 0.26}]
chr19	GH19I044948	44948393	44948452	0.73	[{'connected_gene': 'APOC4-APOC2', 'score': 550.44}, {'connected_gene': 'APOC2', 'score': 28.68}, {'connected_gene': 'ENSG00000267114', 'score': 0.44}]
chr19	GH19I044721	44721777	44726686	1.67	[{'connected_gene': 'ENSG00000252200', 'score': 550.77}, {'connected_gene': 'GC19M044726', 'score': 550.77}, {'connected_gene': 'ENSG00000266903', 'score': 17.64}, {'connected_gene': 'APOE', 'score': 12.54}, {'connected_gene': 'RELB', 'score': 10.11}, {'connected_gene': 'APOC2', 'score': 5.16}, {'connected_gene': 'BCL3', 'score': 4.67}, {'connected_gene': 'CLASRP', 'score': 4.09}, {'connected_gene': 'IGSF23', 'score': 3.32}, {'connected_gene': 'APOC4', 'score': 2.58}]