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
ENST00000221476	[[45809671, 45810186], [45810718, 45810908], [45811666, 45811790], [45815006, 45815178], [45818722, 45818855], [45821082, 45821237], [45822778, 45822989], [45826078, 45826235]]	[[45810007, 45810186], [45810718, 45810908], [45811666, 45811790], [45815006, 45815178], [45818722, 45818855], [45821082, 45821237], [45822778, 45822971]]
NM_001824	[[45809670, 45810186], [45810718, 45810908], [45811666, 45811790], [45815006, 45815178], [45818722, 45818855], [45821082, 45821237], [45822778, 45822989], [45826078, 45826235]]	[[45810007, 45810186], [45810718, 45810908], [45811666, 45811790], [45815006, 45815178], [45818722, 45818855], [45821082, 45821237], [45822778, 45822971]]

Promoter

Chrom	Start	End	Description
chr19	45810751	45810769	CAGE_peak_8_at_CKM_5end
chr19	45810780	45810810	CAGE_peak_7_at_CKM_5end
chr19	45810815	45810835	CAGE_peak_10_at_CKM_5end
chr19	45810845	45810866	CAGE_peak_5_at_CKM_5end
chr19	45810886	45810896	CAGE_peak_14_at_CKM_5end
chr19	45810900	45810907	CAGE_peak_15_at_CKM_5end
chr19	45822834	45822846	CAGE_peak_6_at_CKM_5end
chr19	45822875	45822883	CAGE_peak_11_at_CKM_5end
chr19	45822886	45822897	CAGE_peak_12_at_CKM_5end
chr19	45822908	45822923	CAGE_peak_3_at_CKM_5end
chr19	45822925	45822933	CAGE_peak_13_at_CKM_5end
chr19	45822952	45822969	CAGE_peak_4_at_CKM_5end
chr19	45822970	45822997	CAGE_peak_2_at_CKM_5end
chr19	45823002	45823012	CAGE_peak_9_at_CKM_5end
chr19	45826125	45826141	CAGE_peak_1_at_CKM_5end
chr19	45826364	45826402	CAGE_peak_16_at_CKM_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I045317	45317294	45319911	0.69	[{'connected_gene': 'MARK4', 'score': 7.29}, {'connected_gene': 'DMWD', 'score': 4.96}, {'connected_gene': 'CKM', 'score': 0.77}, {'connected_gene': 'GC19M045307', 'score': 0.39}]
chr19	GH19I045314	45314661	45316079	0.31	[{'connected_gene': 'MARK4', 'score': 13.77}, {'connected_gene': 'DMWD', 'score': 4.64}, {'connected_gene': 'GC19M045307', 'score': 0.44}, {'connected_gene': 'CKM', 'score': 0.44}]
chr19	GH19I045310	45310033	45310975	0.43	[{'connected_gene': 'MARK4', 'score': 30.65}, {'connected_gene': 'KLC3', 'score': 12.75}, {'connected_gene': 'RPS16P9', 'score': 12.75}, {'connected_gene': 'EXOC3L2', 'score': 11.49}, {'connected_gene': 'CD3EAP', 'score': 10.49}, {'connected_gene': 'PPP1R13L', 'score': 10.49}, {'connected_gene': 'GC19M045307', 'score': 0.77}, {'connected_gene': 'CKM', 'score': 0.39}]
chr19	GH19I045316	45316337	45317236	0.6	[{'connected_gene': 'MARK4', 'score': 24.04}, {'connected_gene': 'GC19M045307', 'score': 0.44}, {'connected_gene': 'CKM', 'score': 0.44}]
chr19	GH19I045133	45133717	45135736	0.66	[{'connected_gene': 'PPP1R37', 'score': 11.72}, {'connected_gene': 'RELB', 'score': 11.36}, {'connected_gene': 'CKM', 'score': 10.43}, {'connected_gene': 'CLASRP', 'score': 10.11}, {'connected_gene': 'NKPD1', 'score': 7.11}, {'connected_gene': 'ENSG00000267044', 'score': 0.77}, {'connected_gene': 'PIR47818', 'score': 0.44}, {'connected_gene': 'MARK4', 'score': 0.22}]
chr19	GH19I045326	45326001	45326805	1.33	[{'connected_gene': 'IRF2BP1', 'score': 14.21}, {'connected_gene': 'ZNF180', 'score': 14.19}, {'connected_gene': 'ZNF112', 'score': 13.48}, {'connected_gene': 'CEACAM19', 'score': 12.21}, {'connected_gene': 'ZNF285', 'score': 10.86}, {'connected_gene': 'SNRPD2', 'score': 10.82}, {'connected_gene': 'ENSG00000267114', 'score': 10.67}, {'connected_gene': 'CCDC61', 'score': 9.66}, {'connected_gene': 'ERCC2', 'score': 8.68}, {'connected_gene': 'CKM', 'score': 0.77}, {'connected_gene': 'RPS16P9', 'score': 0.44}]
chr19	GH19I045313	45313082	45314419	0.66	[{'connected_gene': 'FBXO46', 'score': 13.65}, {'connected_gene': 'ZNF180', 'score': 13.24}, {'connected_gene': 'CCDC61', 'score': 12.15}, {'connected_gene': 'EXOC3L2', 'score': 11.49}, {'connected_gene': 'CD3EAP', 'score': 10.5}, {'connected_gene': 'PPP1R13L', 'score': 10.5}, {'connected_gene': 'SIX5', 'score': 9.77}, {'connected_gene': 'DMWD', 'score': 5.86}, {'connected_gene': 'CKM', 'score': 0.44}, {'connected_gene': 'GC19M045307', 'score': 0.44}]
chr19	GH19I045311	45311783	45312001	0.99	[{'connected_gene': 'KLC3', 'score': 12.75}, {'connected_gene': 'RPS16P9', 'score': 12.75}, {'connected_gene': 'EXOC3L2', 'score': 11.49}, {'connected_gene': 'MARK4', 'score': 10.74}, {'connected_gene': 'CD3EAP', 'score': 10.5}, {'connected_gene': 'PPP1R13L', 'score': 10.5}, {'connected_gene': 'GC19M045307', 'score': 0.77}, {'connected_gene': 'CKM', 'score': 0.39}]
chr19	GH19I045231	45231493	45232674	0.2	[{'connected_gene': 'CKM', 'score': 11.12}, {'connected_gene': 'ERCC2', 'score': 10.69}, {'connected_gene': 'CD3EAP', 'score': 10.31}, {'connected_gene': 'PPP1R13L', 'score': 10.31}, {'connected_gene': 'RELB', 'score': 10.23}, {'connected_gene': 'CLASRP', 'score': 10.07}, {'connected_gene': 'LOC100420902', 'score': 0.77}, {'connected_gene': 'GC19M045193', 'score': 0.39}, {'connected_gene': 'EXOC3L2', 'score': 0.39}, {'connected_gene': 'GC19M045188', 'score': 0.26}, {'connected_gene': 'MARK4', 'score': 0.1}]
chr19	GH19I045320	45320298	45324998	1.88	[{'connected_gene': 'CKM', 'score': 560.87}, {'connected_gene': 'KLC3', 'score': 9.39}, {'connected_gene': 'MARK4', 'score': 9.32}, {'connected_gene': 'ERCC2', 'score': 8.82}, {'connected_gene': 'DMPK', 'score': 7.88}, {'connected_gene': 'RTN2', 'score': 5.53}, {'connected_gene': 'PPM1N', 'score': 4.81}, {'connected_gene': 'CD3EAP', 'score': 4.68}, {'connected_gene': 'GC19M045307', 'score': 0.39}]
chr19	GH19I045136	45136305	45138709	1.19	[{'connected_gene': 'ENSG00000267044', 'score': 550.77}, {'connected_gene': 'RELB', 'score': 11.36}, {'connected_gene': 'CKM', 'score': 10.43}, {'connected_gene': 'CLASRP', 'score': 10.11}, {'connected_gene': 'PPP1R37', 'score': 8.9}, {'connected_gene': 'GC19M045151', 'score': 0.39}, {'connected_gene': 'MARK4', 'score': 0.22}]
chr19	GH19I045307	45307843	45308312	0.92	[{'connected_gene': 'GC19M045307', 'score': 550.77}, {'connected_gene': 'MARK4', 'score': 16.5}, {'connected_gene': 'EXOC3L2', 'score': 10.98}, {'connected_gene': 'CD3EAP', 'score': 10.82}, {'connected_gene': 'PPP1R13L', 'score': 10.82}, {'connected_gene': 'CLASRP', 'score': 9.99}, {'connected_gene': 'RELB', 'score': 9.99}, {'connected_gene': 'CKM', 'score': 0.39}]
chr19	GH19I045306	45306026	45307727	0.83	[{'connected_gene': 'GC19M045307', 'score': 550.77}, {'connected_gene': 'MARK4', 'score': 51.57}, {'connected_gene': 'ZNF180', 'score': 14.19}, {'connected_gene': 'CEACAM19', 'score': 12.22}, {'connected_gene': 'EXOC3L2', 'score': 10.98}, {'connected_gene': 'CD3EAP', 'score': 10.82}, {'connected_gene': 'PPP1R13L', 'score': 10.82}, {'connected_gene': 'SNRPD2', 'score': 10.82}, {'connected_gene': 'CLASRP', 'score': 9.99}, {'connected_gene': 'RELB', 'score': 9.99}, {'connected_gene': 'CCDC61', 'score': 9.66}, {'connected_gene': 'CKM', 'score': 0.37}]