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
ENST00000553612	[[81641795, 81646674], [81651874, 81651964], [81658862, 81659183], [81662451, 81662585], [81663752, 81663828], [81667937, 81668002], [81670243, 81670448], [81682756, 81682858], [81686832, 81687266]]	[[81646566, 81646674], [81651874, 81651964], [81658862, 81659183], [81662451, 81662585], [81663752, 81663828], [81667937, 81668002], [81670243, 81670448], [81682756, 81682858], [81686832, 81686862]]
ENST00000298173	[[81646521, 81646674], [81651874, 81651964], [81658862, 81659183], [81662451, 81662585], [81663752, 81663828], [81667937, 81668002], [81670243, 81670448], [81676213, 81676280], [81682756, 81682858], [81686832, 81687296]]	[[81676232, 81676280], [81682756, 81682858], [81686832, 81686862]]
ENST00000434192	[[81646552, 81646674], [81651874, 81651964], [81658862, 81659183], [81662451, 81662585], [81663752, 81663828], [81667937, 81668002], [81670243, 81670448], [81682756, 81682858], [81687491, 81687575]]	[[81646566, 81646674], [81651874, 81651964], [81658862, 81659183], [81662451, 81662585], [81663752, 81663828], [81667937, 81668002], [81670243, 81670448], [81682756, 81682771]]
ENST00000556268	[[81663570, 81663828], [81667937, 81668002], [81670243, 81670448], [81682756, 81682858], [81687487, 81687721]]	None
NM_001278940	[[81641795, 81646674], [81651874, 81651964], [81658862, 81659183], [81662451, 81662585], [81663752, 81663828], [81667937, 81668002], [81670243, 81670448], [81676213, 81676280], [81682756, 81682858], [81686832, 81687296]]	[[81646566, 81646674], [81651874, 81651964], [81658862, 81659183], [81662451, 81662585], [81663752, 81663828], [81667937, 81668002], [81670243, 81670430]]
NM_015859	[[81641795, 81646674], [81651874, 81651964], [81658862, 81659183], [81662451, 81662585], [81663752, 81663828], [81667937, 81668002], [81670243, 81670448], [81682756, 81682858], [81686832, 81687296]]	[[81646566, 81646674], [81651874, 81651964], [81658862, 81659183], [81662451, 81662585], [81663752, 81663828], [81667937, 81668002], [81670243, 81670448], [81682756, 81682858], [81686832, 81686862]]
NM_201595	[[81641795, 81646674], [81651874, 81651964], [81658862, 81659183], [81662451, 81662585], [81663752, 81663828], [81667937, 81668002], [81670243, 81670448], [81682756, 81682858], [81687491, 81687575]]	[[81646566, 81646674], [81651874, 81651964], [81658862, 81659183], [81662451, 81662585], [81663752, 81663828], [81667937, 81668002], [81670243, 81670448], [81682756, 81682771]]

Promoter

Chrom	Start	End	Description
chr14	81686894	81686924	CAGE_peak_4_at_GTF2A1_5end
chr14	81687057	81687090	CAGE_peak_3_at_GTF2A1_5end
chr14	81687197	81687280	CAGE_peak_1_at_GTF2A1_5end
chr14	81687282	81687316	CAGE_peak_2_at_GTF2A1_5end
chr14	81687317	81687329	CAGE_peak_6_at_GTF2A1_5end
chr14	81687617	81687655	CAGE_peak_5_at_GTF2A1_5end
chr14	81687672	81687692	CAGE_peak_7_at_GTF2A1_5end
chr14	81687728	81687740	CAGE_peak_9_at_GTF2A1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr14	GH14I081434	81434277	81437366	1.68	[{'connected_gene': 'STON2', 'score': 554.99}, {'connected_gene': 'GTF2A1', 'score': 11.34}, {'connected_gene': 'LINC02308', 'score': 4.67}, {'connected_gene': 'DYNLL1P2', 'score': 0.34}]
chr14	GH14I081398	81398535	81403022	2.17	[{'connected_gene': 'STON2', 'score': 555.48}, {'connected_gene': 'GTF2A1', 'score': 12.83}, {'connected_gene': 'LINC02308', 'score': 4.56}, {'connected_gene': 'GC14P081410', 'score': 0.44}, {'connected_gene': 'RPS24P3', 'score': 0.2}]
chr14	GH14I081437	81437457	81437606	0.52	[{'connected_gene': 'STON2', 'score': 550.77}, {'connected_gene': 'GTF2A1', 'score': 11.34}, {'connected_gene': 'LINC02308', 'score': 0.39}]
chr14	GH14I080992	80992395	80992674	0.61	[{'connected_gene': 'TSHR', 'score': 19.0}, {'connected_gene': 'CEP128', 'score': 11.72}, {'connected_gene': 'SNORA79', 'score': 9.96}, {'connected_gene': 'GTF2A1', 'score': 9.96}, {'connected_gene': 'RPL17P3', 'score': 0.44}, {'connected_gene': 'GC14P080982', 'score': 0.39}]
chr14	GH14I081128	81128934	81129188	0.24	[{'connected_gene': 'SNORA79', 'score': 10.31}, {'connected_gene': 'GTF2A1', 'score': 10.28}, {'connected_gene': 'CEP128', 'score': 9.96}, {'connected_gene': 'TSHR', 'score': 8.43}, {'connected_gene': 'STON2', 'score': 1.33}, {'connected_gene': 'LOC105370594', 'score': 0.28}, {'connected_gene': 'LOC101928462', 'score': 0.26}, {'connected_gene': 'NMNAT1P1', 'score': 0.15}]
chr14	GH14I081130	81130728	81131014	0.22	[{'connected_gene': 'SNORA79', 'score': 10.31}, {'connected_gene': 'GTF2A1', 'score': 10.28}, {'connected_gene': 'CEP128', 'score': 9.95}, {'connected_gene': 'TSHR', 'score': 5.04}, {'connected_gene': 'STON2', 'score': 1.31}, {'connected_gene': 'LOC105370594', 'score': 0.28}, {'connected_gene': 'LOC101928462', 'score': 0.26}, {'connected_gene': 'NMNAT1P1', 'score': 0.15}]
chr14	GH14I081164	81164200	81164600	1.01	[{'connected_gene': 'SNORA79', 'score': 10.79}, {'connected_gene': 'GTF2A1', 'score': 10.76}, {'connected_gene': 'CEP128', 'score': 10.35}, {'connected_gene': 'LOC105370594', 'score': 0.77}, {'connected_gene': 'LOC101928462', 'score': 0.44}, {'connected_gene': 'NMNAT1P1', 'score': 0.12}]
chr14	GH14I081163	81163000	81163226	0.99	[{'connected_gene': 'SNORA79', 'score': 10.79}, {'connected_gene': 'GTF2A1', 'score': 10.76}, {'connected_gene': 'CEP128', 'score': 10.35}, {'connected_gene': 'LOC101928462', 'score': 0.44}, {'connected_gene': 'LOC105370594', 'score': 0.44}, {'connected_gene': 'NMNAT1P1', 'score': 0.12}]
chr14	GH14I081127	81127783	81128102	0.61	[{'connected_gene': 'GTF2A1', 'score': 20.99}, {'connected_gene': 'SNORA79', 'score': 10.31}, {'connected_gene': 'CEP128', 'score': 9.96}, {'connected_gene': 'LOC101928462', 'score': 0.26}, {'connected_gene': 'LOC105370594', 'score': 0.26}, {'connected_gene': 'NMNAT1P1', 'score': 0.15}, {'connected_gene': 'TSHR', 'score': 0.09}]
chr14	GH14I081176	81176144	81177800	0.91	[{'connected_gene': 'GTF2A1', 'score': 15.59}, {'connected_gene': 'SNORA79', 'score': 11.04}, {'connected_gene': 'LOC101928462', 'score': 0.77}, {'connected_gene': 'GC14M081176', 'score': 0.77}]
chr14	GH14I081473	81473257	81475664	0.97	[{'connected_gene': 'GTF2A1', 'score': 10.84}, {'connected_gene': 'SEL1L', 'score': 10.79}, {'connected_gene': 'SNORA79', 'score': 9.8}, {'connected_gene': 'CEP128', 'score': 9.22}, {'connected_gene': 'LINC02308', 'score': 0.34}]
chr14	GH14I081267	81267663	81268954	0.8	[{'connected_gene': 'GTF2A1', 'score': 11.77}, {'connected_gene': 'UNGP3', 'score': 0.44}, {'connected_gene': 'GC14M081259', 'score': 0.44}, {'connected_gene': 'PIR41338', 'score': 0.44}, {'connected_gene': 'STON2', 'score': 0.1}]
chr14	GH14I080996	80996224	80996800	0.95	[{'connected_gene': 'GTF2A1', 'score': 21.31}, {'connected_gene': 'CEP128', 'score': 17.87}, {'connected_gene': 'SNORA79', 'score': 9.91}, {'connected_gene': 'NMNAT1P1', 'score': 7.87}, {'connected_gene': 'RPL17P3', 'score': 0.44}, {'connected_gene': 'GC14P080982', 'score': 0.39}, {'connected_gene': 'TSHR', 'score': 0.26}]
chr14	GH14I081208	81208651	81210076	1.16	[{'connected_gene': 'GTF2A1', 'score': 16.29}, {'connected_gene': 'CEP128', 'score': 10.14}, {'connected_gene': 'GC14M081203', 'score': 0.44}, {'connected_gene': 'SNORA79', 'score': 0.44}, {'connected_gene': 'LOC101928504', 'score': 0.39}]
chr14	GH14I081218	81218244	81223058	2.7	[{'connected_gene': 'GTF2A1', 'score': 579.2}, {'connected_gene': 'GC14P081222', 'score': 550.77}, {'connected_gene': 'PIR43292', 'score': 550.77}, {'connected_gene': 'LOC101928504', 'score': 550.77}, {'connected_gene': 'CEP128', 'score': 28.33}, {'connected_gene': 'GC14M081203', 'score': 0.37}, {'connected_gene': 'SNORA79', 'score': 0.37}]
chr14	GH14I080990	80990010	80990739	0.2	[{'connected_gene': 'CEP128', 'score': 18.96}, {'connected_gene': 'SNORA79', 'score': 9.96}, {'connected_gene': 'GTF2A1', 'score': 9.95}, {'connected_gene': 'NMNAT1P1', 'score': 5.32}, {'connected_gene': 'GC14P080982', 'score': 0.44}, {'connected_gene': 'RPL17P3', 'score': 0.39}, {'connected_gene': 'TSHR', 'score': 0.28}]
chr14	GH14I081122	81122602	81122768	0.62	[{'connected_gene': 'CEP128', 'score': 10.24}, {'connected_gene': 'GTF2A1', 'score': 5.22}, {'connected_gene': 'LOC101928462', 'score': 0.25}, {'connected_gene': 'LOC105370594', 'score': 0.25}, {'connected_gene': 'NMNAT1P1', 'score': 0.16}, {'connected_gene': 'TSHR', 'score': 0.1}]
chr14	GH14I081169	81169373	81171286	1.47	[{'connected_gene': 'LOC101928462', 'score': 550.77}, {'connected_gene': 'SNORA79', 'score': 11.27}, {'connected_gene': 'GTF2A1', 'score': 11.21}, {'connected_gene': 'CEP128', 'score': 10.24}, {'connected_gene': 'LOC105370594', 'score': 0.77}]
chr14	GH14I081192	81192500	81193046	0.2	[{'connected_gene': 'GC14M081203', 'score': 0.39}, {'connected_gene': 'SNORA79', 'score': 0.39}, {'connected_gene': 'GC14M081176', 'score': 0.39}, {'connected_gene': 'GTF2A1', 'score': 0.31}]
chr14	GH14I081200	81200041	81200559	0.31	[{'connected_gene': 'GC14M081203', 'score': 0.77}, {'connected_gene': 'SNORA79', 'score': 0.77}, {'connected_gene': 'GTF2A1', 'score': 0.34}, {'connected_gene': 'GC14M081176', 'score': 0.34}]
chr14	GH14I081211	81211977	81212086	0.59	[{'connected_gene': 'GC14M081203', 'score': 0.44}, {'connected_gene': 'SNORA79', 'score': 0.44}, {'connected_gene': 'LOC101928504', 'score': 0.44}, {'connected_gene': 'GTF2A1', 'score': 0.44}]
chr14	GH14I081245	81245634	81248198	0.83	[{'connected_gene': 'GC14P081247', 'score': 550.77}, {'connected_gene': 'GC14M081247', 'score': 550.77}, {'connected_gene': 'DYNLL1P1', 'score': 550.77}, {'connected_gene': 'CEP128', 'score': 19.23}, {'connected_gene': 'GTF2A1', 'score': 11.48}, {'connected_gene': 'SNORA79', 'score': 10.69}]