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
ENST00000544237	[[34957483, 34957694], [34971291, 34971673], [34972342, 34972528], [34976148, 34976227], [34976531, 34976737], [34977079, 34977240], [34977542, 34977638], [34978011, 34978194]]	[[34971295, 34971673], [34972342, 34972528], [34976148, 34976227], [34976531, 34976737], [34977079, 34977240], [34977542, 34977638], [34978011, 34978108]]
ENST00000486477	[[34957604, 34957694], [34971291, 34971514]]	None
ENST00000476115	[[34958315, 34958398], [34971291, 34971343], [34972407, 34972528], [34976148, 34976227], [34976531, 34976737], [34977079, 34977240], [34977542, 34977638], [34978011, 34978894]]	None
ENST00000242315	[[34958320, 34958398], [34971291, 34971673], [34972342, 34972528], [34976148, 34976227], [34976531, 34976737], [34977079, 34977240], [34977542, 34977638], [34978011, 34982541]]	[[34971295, 34971673], [34972342, 34972528], [34976148, 34976227], [34976531, 34976737], [34977079, 34977240], [34977542, 34977638], [34978011, 34978108]]
ENST00000440503	[[34979684, 34980249], [34982438, 34982541]]	None
NR_136307	[[34957483, 34957694], [34971291, 34971673], [34972342, 34972528], [34976148, 34976227], [34976531, 34976737], [34977079, 34977240], [34977542, 34977638], [34978011, 34980249], [34982377, 34982541]]	None
NM_001304333	[[34957483, 34957694], [34971291, 34971673], [34972342, 34972528], [34976148, 34976227], [34976531, 34976737], [34977079, 34977240], [34977542, 34977638], [34978011, 34982541]]	[[34971295, 34971673], [34972342, 34972528], [34976148, 34976227], [34976531, 34976737], [34977079, 34977240], [34977542, 34977638], [34978011, 34978108]]
NM_001347982	[[34957483, 34957694], [34971291, 34971673], [34972342, 34972528], [34976148, 34976227], [34976531, 34976737], [34977079, 34977240], [34977539, 34977638], [34978011, 34982541]]	[[34971295, 34971673], [34972342, 34972528], [34976148, 34976227], [34976531, 34976737], [34977079, 34977240], [34977539, 34977638], [34978011, 34978108]]
NR_136308	[[34958191, 34958398], [34971291, 34971673], [34972342, 34972528], [34976148, 34976227], [34976531, 34976737], [34977079, 34977240], [34977542, 34977638], [34978011, 34980249], [34982377, 34982541]]	None
NM_015297	[[34958191, 34958398], [34971291, 34971673], [34972342, 34972528], [34976148, 34976227], [34976531, 34976737], [34977079, 34977240], [34977542, 34977638], [34978011, 34982541]]	[[34971295, 34971673], [34972342, 34972528], [34976148, 34976227], [34976531, 34976737], [34977079, 34977240], [34977542, 34977638], [34978011, 34978108]]
NM_001347983	[[34958191, 34958398], [34971291, 34971673], [34972342, 34972528], [34976148, 34976227], [34976531, 34976737], [34977079, 34977240], [34977539, 34977638], [34978011, 34982541]]	[[34971295, 34971673], [34972342, 34972528], [34976148, 34976227], [34976531, 34976737], [34977079, 34977240], [34977539, 34977638], [34978011, 34978108]]

Promoter

Chrom	Start	End	Description
chr9	34957477	34957489	CAGE_peak_10_at_KIAA1045_5end
chr9	34957508	34957524	CAGE_peak_12_at_KIAA1045_5end
chr9	34957529	34957589	CAGE_peak_2_at_KIAA1045_5end
chr9	34957592	34957621	CAGE_peak_5_at_KIAA1045_5end
chr9	34957813	34957838	CAGE_peak_4_at_KIAA1045_5end
chr9	34957855	34957864	CAGE_peak_11_at_KIAA1045_5end
chr9	34957921	34957934	CAGE_peak_7_at_KIAA1045_5end
chr9	34957937	34957950	CAGE_peak_13_at_KIAA1045_5end
chr9	34957996	34958005	CAGE_peak_14_at_KIAA1045_5end
chr9	34958028	34958045	CAGE_peak_6_at_KIAA1045_5end
chr9	34958063	34958075	CAGE_peak_9_at_KIAA1045_5end
chr9	34958141	34958160	CAGE_peak_8_at_KIAA1045_5end
chr9	34958167	34958182	CAGE_peak_3_at_KIAA1045_5end
chr9	34958254	34958317	CAGE_peak_1_at_KIAA1045_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr9	GH09I035025	35025240	35029304	1.03	[{'connected_gene': 'PIGO', 'score': 27.6}, {'connected_gene': 'FANCG', 'score': 22.71}, {'connected_gene': 'TMEM8B', 'score': 14.67}, {'connected_gene': 'DNAJB5', 'score': 11.7}, {'connected_gene': 'ENSG00000230074', 'score': 10.67}, {'connected_gene': 'SPAG8', 'score': 10.57}, {'connected_gene': 'PHF24', 'score': 10.43}, {'connected_gene': 'STOML2', 'score': 10.0}, {'connected_gene': 'ENSG00000234181', 'score': 9.91}, {'connected_gene': 'CREB3', 'score': 9.77}, {'connected_gene': 'VCP', 'score': 8.43}, {'connected_gene': 'LOC105376025', 'score': 0.77}, {'connected_gene': 'C9orf131', 'score': 0.39}]
chr9	GH09I035726	35726133	35734696	2.54	[{'connected_gene': 'TLN1', 'score': 561.82}, {'connected_gene': 'CREB3', 'score': 550.77}, {'connected_gene': 'TMEM8B', 'score': 31.04}, {'connected_gene': 'GBA2', 'score': 26.71}, {'connected_gene': 'ARHGEF39', 'score': 22.14}, {'connected_gene': 'TPM2', 'score': 21.95}, {'connected_gene': 'HMGB3P24', 'score': 20.72}, {'connected_gene': 'PIGO', 'score': 12.86}, {'connected_gene': 'RN7SL22P', 'score': 11.64}, {'connected_gene': 'ENSG00000228843', 'score': 11.62}, {'connected_gene': 'MSMP', 'score': 11.62}, {'connected_gene': 'CCDC107', 'score': 11.61}, {'connected_gene': 'CA9', 'score': 11.08}, {'connected_gene': 'SPAG8', 'score': 10.59}, {'connected_gene': 'HINT2', 'score': 10.58}, {'connected_gene': 'NPR2', 'score': 10.26}, {'connected_gene': 'ENSG00000227388', 'score': 10.18}, {'connected_gene': 'PHF24', 'score': 5.18}, {'connected_gene': 'MIR6853', 'score': 0.77}, {'connected_gene': 'MIR6852', 'score': 0.37}]
chr9	GH09I035755	35755533	35759306	1.48	[{'connected_gene': 'MSMP', 'score': 550.77}, {'connected_gene': 'ENSG00000228843', 'score': 550.77}, {'connected_gene': 'TMEM8B', 'score': 19.75}, {'connected_gene': 'NPR2', 'score': 5.99}, {'connected_gene': 'HRCT1', 'score': 4.94}, {'connected_gene': 'PHF24', 'score': 4.56}, {'connected_gene': 'RGP1', 'score': 0.44}]
chr9	GH09I034743	34743960	34746502	0.46	[{'connected_gene': 'CCL21', 'score': 11.66}, {'connected_gene': 'CCL19', 'score': 10.9}, {'connected_gene': 'PHF24', 'score': 10.39}, {'connected_gene': 'FAM205A', 'score': 8.54}]
chr9	GH09I034939	34939505	34940980	0.49	[{'connected_gene': 'SIT1', 'score': 7.23}, {'connected_gene': 'RPP25L', 'score': 4.38}, {'connected_gene': 'PIR41300', 'score': 0.77}, {'connected_gene': 'PIR62069', 'score': 0.26}, {'connected_gene': 'PHF24', 'score': 0.12}]
chr9	GH09I034760	34760544	34760693	0.62	[{'connected_gene': 'FAM205A', 'score': 0.29}, {'connected_gene': 'PHF24', 'score': 0.25}]
chr9	GH09I034899	34899664	34899833	0.65	[{'connected_gene': 'PHF24', 'score': 11.37}, {'connected_gene': 'VCP', 'score': 10.9}, {'connected_gene': 'FANCG', 'score': 10.89}, {'connected_gene': 'ENSG00000234181', 'score': 10.72}, {'connected_gene': 'PIGO', 'score': 10.72}, {'connected_gene': 'STOML2', 'score': 10.72}, {'connected_gene': 'CCL19', 'score': 9.91}, {'connected_gene': 'FAM205C', 'score': 0.77}, {'connected_gene': 'GLULP4', 'score': 0.37}]
chr9	GH09I034771	34771144	34771293	0.63	[{'connected_gene': 'PHF24', 'score': 0.28}, {'connected_gene': 'FAM205A', 'score': 0.26}]
chr9	GH09I035415	35415904	35416053	0.43	[{'connected_gene': 'PHF24', 'score': 9.72}, {'connected_gene': 'ATP8B5P', 'score': 0.44}, {'connected_gene': 'ZFAND6P1', 'score': 0.29}]
chr9	GH09I035760	35760207	35761774	0.66	[{'connected_gene': 'PHF24', 'score': 4.56}, {'connected_gene': 'ENSG00000228843', 'score': 0.77}, {'connected_gene': 'NPR2', 'score': 0.44}, {'connected_gene': 'ENSG00000227388', 'score': 0.39}]
chr9	GH09I034957	34957800	34958401	1.47	[{'connected_gene': 'PHF24', 'score': 550.11}, {'connected_gene': 'PIR62069', 'score': 0.34}, {'connected_gene': 'PIR41300', 'score': 0.34}]
chr9	GH09I035051	35051484	35051653	0.65	[{'connected_gene': 'FANCG', 'score': 11.84}, {'connected_gene': 'ENSG00000234181', 'score': 11.36}, {'connected_gene': 'STOML2', 'score': 11.36}, {'connected_gene': 'PIGO', 'score': 11.34}, {'connected_gene': 'PHF24', 'score': 10.23}, {'connected_gene': 'RN7SL338P', 'score': 0.77}, {'connected_gene': 'VCP', 'score': 0.34}]
chr9	GH09I034630	34630841	34631034	0.56	[{'connected_gene': 'ARID3C', 'score': 550.77}, {'connected_gene': 'DNAJB5', 'score': 5.29}, {'connected_gene': 'CNTFR', 'score': 3.43}, {'connected_gene': 'ENHO', 'score': 1.76}, {'connected_gene': 'PHF24', 'score': 1.62}, {'connected_gene': 'SIGMAR1', 'score': 0.44}]
chr9	GH09I034999	34999528	35002529	1.18	[{'connected_gene': 'LOC100420114', 'score': 550.77}, {'connected_gene': 'ENSG00000279489', 'score': 550.77}, {'connected_gene': 'VCP', 'score': 20.7}, {'connected_gene': 'FANCG', 'score': 15.64}, {'connected_gene': 'C9orf131', 'score': 11.44}, {'connected_gene': 'PHF24', 'score': 10.89}, {'connected_gene': 'ENSG00000234181', 'score': 10.48}, {'connected_gene': 'PIGO', 'score': 10.48}, {'connected_gene': 'STOML2', 'score': 10.47}, {'connected_gene': 'GC09P034997', 'score': 0.77}]
chr9	GH09I035044	35044184	35044353	0.31	[{'connected_gene': 'ENSG00000279608', 'score': 550.77}, {'connected_gene': 'VCP', 'score': 12.0}, {'connected_gene': 'FANCG', 'score': 11.96}, {'connected_gene': 'ENSG00000234181', 'score': 10.97}, {'connected_gene': 'PIGO', 'score': 10.97}, {'connected_gene': 'STOML2', 'score': 10.96}, {'connected_gene': 'PHF24', 'score': 10.26}, {'connected_gene': 'C9orf131', 'score': 0.77}]
chr9	GH09I034575	34575665	34580790	0.77	[{'connected_gene': 'GC09P034579', 'score': 550.77}, {'connected_gene': 'GC09P034580', 'score': 550.77}, {'connected_gene': 'GALT', 'score': 26.13}, {'connected_gene': 'RPP25L', 'score': 22.39}, {'connected_gene': 'ENSG00000230074', 'score': 15.55}, {'connected_gene': 'ENHO', 'score': 15.51}, {'connected_gene': 'FAM219A', 'score': 14.09}, {'connected_gene': 'ENSG00000232983', 'score': 13.54}, {'connected_gene': 'ARID3C', 'score': 12.12}, {'connected_gene': 'CNTFR', 'score': 11.37}, {'connected_gene': 'ENSG00000230729', 'score': 10.98}, {'connected_gene': 'SIGMAR1', 'score': 10.74}, {'connected_gene': 'DNAI1', 'score': 10.51}, {'connected_gene': 'DCTN3', 'score': 10.44}, {'connected_gene': 'IL11RA', 'score': 10.15}, {'connected_gene': 'CCL19', 'score': 9.62}, {'connected_gene': 'DNAJB5', 'score': 4.58}, {'connected_gene': 'PHF24', 'score': 3.22}, {'connected_gene': 'LOC105376023', 'score': 0.44}, {'connected_gene': 'CNTFR-AS1', 'score': 0.39}]
chr9	GH09I034948	34948644	34948793	0.2	[{'connected_gene': 'PIR41300', 'score': 0.39}, {'connected_gene': 'PIR62069', 'score': 0.29}, {'connected_gene': 'PHF24', 'score': 0.12}]
chr9	GH09I034982	34982201	34983868	0.8	[{'connected_gene': 'PIR62069', 'score': 550.77}, {'connected_gene': 'FANCG', 'score': 7.97}, {'connected_gene': 'ARHGEF39', 'score': 4.79}, {'connected_gene': 'DNAJB5', 'score': 0.44}, {'connected_gene': 'PHF24', 'score': 0.09}]