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
ENST00000425676	[[35073831, 35074213], [35074367, 35074491], [35074923, 35075079], [35075275, 35075322], [35075461, 35075751], [35075958, 35076025], [35076428, 35076580], [35076720, 35076867], [35076967, 35077098], [35077260, 35077396], [35078601, 35078733], [35079147, 35079238], [35079437, 35079690]]	[[35077382, 35077396], [35078601, 35078733], [35079147, 35079238], [35079437, 35079521]]
ENST00000378643	[[35073834, 35074213], [35074367, 35074491], [35074923, 35075079], [35075275, 35075322], [35075461, 35075751], [35075958, 35076025], [35076428, 35076580], [35076720, 35076867], [35076967, 35077098], [35077260, 35077396], [35078137, 35078340], [35078601, 35078733], [35079147, 35079238], [35079437, 35080013]]	[[35074104, 35074213], [35074367, 35074491], [35074923, 35075079], [35075275, 35075322], [35075461, 35075751], [35075958, 35076025], [35076428, 35076580], [35076720, 35076867], [35076967, 35077098], [35077260, 35077396], [35078137, 35078340], [35078601, 35078733], [35079147, 35079238], [35079437, 35079521]]
ENST00000476212	[[35073835, 35074213], [35074367, 35074429], [35076518, 35076562]]	None
ENST00000481254	[[35074775, 35075322], [35075461, 35075506]]	None
ENST00000474894	[[35076137, 35076580], [35076720, 35076849]]	None
ENST00000448890	[[35077261, 35077396], [35078137, 35078340], [35078601, 35078733], [35079147, 35079238], [35079437, 35079532], [35079727, 35079939]]	[[35077261, 35077396], [35078137, 35078340], [35078601, 35078733], [35079147, 35079238], [35079437, 35079521]]
ENST00000461149	[[35077994, 35078340], [35078601, 35078643]]	None
ENST00000462124	[[35078598, 35078733], [35079147, 35079666]]	None
NM_004629	[[35073834, 35074213], [35074367, 35074491], [35074923, 35075079], [35075275, 35075322], [35075461, 35075751], [35075958, 35076025], [35076428, 35076580], [35076720, 35076867], [35076967, 35077098], [35077260, 35077396], [35078137, 35078340], [35078601, 35078733], [35079147, 35079238], [35079437, 35080013]]	[[35074104, 35074213], [35074367, 35074491], [35074923, 35075079], [35075275, 35075322], [35075461, 35075751], [35075958, 35076025], [35076428, 35076580], [35076720, 35076867], [35076967, 35077098], [35077260, 35077396], [35078137, 35078340], [35078601, 35078733], [35079147, 35079238], [35079437, 35079521]]

Promoter

Chrom	Start	End	Description
chr9	35079680	35079711	CAGE_peak_3_at_FANCG_5end
chr9	35079719	35079761	CAGE_peak_2_at_FANCG_5end
chr9	35079911	35079946	CAGE_peak_1_at_FANCG_5end
chr9	35080034	35080049	CAGE_peak_5_at_FANCG_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr9	GH09I035487	35487768	35493221	2.51	[{'connected_gene': 'RUSC2', 'score': 556.34}, {'connected_gene': 'LOC105376026', 'score': 550.77}, {'connected_gene': 'PIGO', 'score': 27.71}, {'connected_gene': 'RGP1', 'score': 13.06}, {'connected_gene': 'FANCG', 'score': 12.74}, {'connected_gene': 'ARHGEF39', 'score': 12.28}, {'connected_gene': 'TMEM8B', 'score': 11.3}, {'connected_gene': 'FAM214B', 'score': 10.7}, {'connected_gene': 'SPAG8', 'score': 10.52}, {'connected_gene': 'FAM166B', 'score': 10.35}, {'connected_gene': 'HMGB3P24', 'score': 9.68}, {'connected_gene': 'UNC13B', 'score': 9.55}, {'connected_gene': 'GBA2', 'score': 9.54}, {'connected_gene': 'OR13J1', 'score': 3.11}, {'connected_gene': 'CREB3', 'score': 2.1}, {'connected_gene': 'TPM2', 'score': 1.84}, {'connected_gene': 'CCDC107', 'score': 1.55}]
chr9	GH09I035095	35095069	35097213	2.07	[{'connected_gene': 'PIGO', 'score': 563.6}, {'connected_gene': 'ENSG00000234181', 'score': 550.77}, {'connected_gene': 'TMEM8B', 'score': 14.67}, {'connected_gene': 'SPAG8', 'score': 10.57}, {'connected_gene': 'ARHGEF39', 'score': 10.52}, {'connected_gene': 'CREB3', 'score': 9.77}, {'connected_gene': 'FANCG', 'score': 6.07}, {'connected_gene': 'GC09M035090', 'score': 0.44}, {'connected_gene': 'PIR36473', 'score': 0.44}]
chr9	GH09I034162	34162783	34162932	0.81	[{'connected_gene': 'PIGO', 'score': 85.13}, {'connected_gene': 'NFX1', 'score': 84.71}, {'connected_gene': 'NOL6', 'score': 77.81}, {'connected_gene': 'ENSG00000228352', 'score': 68.77}, {'connected_gene': 'UBAP2', 'score': 22.4}, {'connected_gene': 'FANCG', 'score': 19.03}, {'connected_gene': 'IMPDH1P1', 'score': 13.1}, {'connected_gene': 'DCAF12', 'score': 13.07}, {'connected_gene': 'FAM205A', 'score': 10.86}, {'connected_gene': 'B4GALT1', 'score': 10.03}, {'connected_gene': 'SNORD121A', 'score': 9.64}, {'connected_gene': 'GC09P034270', 'score': 0.44}, {'connected_gene': 'PIR62533', 'score': 0.31}]
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	GH09I035108	35108527	35117534	2.61	[{'connected_gene': 'FAM214B', 'score': 573.1}, {'connected_gene': 'PIGO', 'score': 26.02}, {'connected_gene': 'SPAG8', 'score': 12.38}, {'connected_gene': 'TMEM8B', 'score': 11.3}, {'connected_gene': 'RUSC2', 'score': 11.18}, {'connected_gene': 'ARHGEF39', 'score': 10.52}, {'connected_gene': 'VCP', 'score': 10.01}, {'connected_gene': 'FANCG', 'score': 7.87}, {'connected_gene': 'UNC13B', 'score': 5.84}, {'connected_gene': 'DNAJB5', 'score': 1.98}, {'connected_gene': 'STOML2', 'score': 0.44}]
chr9	GH09I035486	35486446	35487741	0.2	[{'connected_gene': 'FAM214B', 'score': 10.7}, {'connected_gene': 'FAM166B', 'score': 10.34}, {'connected_gene': 'UNC13B', 'score': 9.55}, {'connected_gene': 'GBA2', 'score': 9.54}, {'connected_gene': 'PIGO', 'score': 4.36}, {'connected_gene': 'FANCG', 'score': 4.06}, {'connected_gene': 'RUSC2', 'score': 0.77}, {'connected_gene': 'PIR41937', 'score': 0.44}]
chr9	GH09I035069	35069847	35073942	2.24	[{'connected_gene': 'VCP', 'score': 575.72}, {'connected_gene': 'FANCG', 'score': 15.01}, {'connected_gene': 'TMEM8B', 'score': 14.68}, {'connected_gene': 'FAM205A', 'score': 11.94}, {'connected_gene': 'C9orf131', 'score': 10.97}, {'connected_gene': 'ENSG00000228352', 'score': 10.82}, {'connected_gene': 'ATP8B5P', 'score': 10.33}, {'connected_gene': 'PIGO', 'score': 10.18}, {'connected_gene': 'NPR2', 'score': 9.92}, {'connected_gene': 'RN7SL338P', 'score': 0.34}]
chr9	GH09I035679	35679739	35692495	2.29	[{'connected_gene': 'TPM2', 'score': 579.96}, {'connected_gene': 'GBA2', 'score': 25.49}, {'connected_gene': 'TMEM8B', 'score': 22.44}, {'connected_gene': 'TLN1', 'score': 21.55}, {'connected_gene': 'NPR2', 'score': 20.48}, {'connected_gene': 'CCDC107', 'score': 18.57}, {'connected_gene': 'SIT1', 'score': 11.69}, {'connected_gene': 'CREB3', 'score': 11.26}, {'connected_gene': 'RGP1', 'score': 10.93}, {'connected_gene': 'ENSG00000228843', 'score': 10.91}, {'connected_gene': 'MSMP', 'score': 10.91}, {'connected_gene': 'ENSG00000227388', 'score': 10.09}, {'connected_gene': 'FAM221B', 'score': 9.79}, {'connected_gene': 'FANCG', 'score': 4.44}, {'connected_gene': 'CA9', 'score': 0.39}, {'connected_gene': 'ARHGEF39', 'score': 0.39}]
chr9	GH09I035904	35904490	35911844	2.1	[{'connected_gene': 'HRCT1', 'score': 569.7}, {'connected_gene': 'SPAAR', 'score': 568.78}, {'connected_gene': 'TMEM8B', 'score': 17.6}, {'connected_gene': 'PIGO', 'score': 16.02}, {'connected_gene': 'OR13J1', 'score': 14.07}, {'connected_gene': 'FAM221B', 'score': 11.61}, {'connected_gene': 'NDUFA5P4', 'score': 10.92}, {'connected_gene': 'ENSG00000227388', 'score': 10.64}, {'connected_gene': 'NPR2', 'score': 10.62}, {'connected_gene': 'FANCG', 'score': 10.59}, {'connected_gene': 'SPAG8', 'score': 10.49}, {'connected_gene': 'OR2S1P', 'score': 10.44}, {'connected_gene': 'HINT2', 'score': 10.43}, {'connected_gene': 'GBA2', 'score': 9.64}, {'connected_gene': 'TLN1', 'score': 9.64}, {'connected_gene': 'CREB3', 'score': 9.64}, {'connected_gene': 'GLIPR2', 'score': 9.51}, {'connected_gene': 'ENSG00000228843', 'score': 9.42}, {'connected_gene': 'MSMP', 'score': 9.42}, {'connected_gene': 'RGP1', 'score': 9.42}, {'connected_gene': 'DNAJB5', 'score': 4.57}, {'connected_gene': 'CCDC107', 'score': 4.29}, {'connected_gene': 'OR2S2', 'score': 1.72}, {'connected_gene': 'LOC105376027', 'score': 0.77}]
chr9	GH09I034341	34341312	34346340	1.02	[{'connected_gene': 'NUDT2', 'score': 50.6}, {'connected_gene': 'MYORG', 'score': 11.86}, {'connected_gene': 'C9orf24', 'score': 11.8}, {'connected_gene': 'RNU2-50P', 'score': 10.65}, {'connected_gene': 'DNAI1', 'score': 10.08}, {'connected_gene': 'FAM219A', 'score': 10.08}, {'connected_gene': 'IMPDH1P1', 'score': 9.98}, {'connected_gene': 'DCAF12', 'score': 9.98}, {'connected_gene': 'ENSG00000230729', 'score': 9.9}, {'connected_gene': 'RPP25L', 'score': 9.85}, {'connected_gene': 'FANCG', 'score': 7.9}, {'connected_gene': 'UBAP1', 'score': 7.81}, {'connected_gene': 'GC09P034356', 'score': 0.39}, {'connected_gene': 'KIF24', 'score': 0.37}]
chr9	GH09I034327	34327276	34330801	2.05	[{'connected_gene': 'NUDT2', 'score': 594.36}, {'connected_gene': 'KIF24', 'score': 559.83}, {'connected_gene': 'UBAP2', 'score': 25.62}, {'connected_gene': 'ENSG00000228352', 'score': 25.4}, {'connected_gene': 'NOL6', 'score': 20.02}, {'connected_gene': 'PIGO', 'score': 19.81}, {'connected_gene': 'FAM205A', 'score': 11.93}, {'connected_gene': 'C9orf131', 'score': 10.71}, {'connected_gene': 'UNC13B', 'score': 10.65}, {'connected_gene': 'VCP', 'score': 10.08}, {'connected_gene': 'FANCG', 'score': 7.89}, {'connected_gene': 'UBAP1', 'score': 5.8}, {'connected_gene': 'SERPINH1P1', 'score': 0.39}]
chr9	GH09I034326	34326543	34327006	0.54	[{'connected_gene': 'NUDT2', 'score': 44.63}, {'connected_gene': 'KIF24', 'score': 8.05}, {'connected_gene': 'FANCG', 'score': 7.89}, {'connected_gene': 'SERPINH1P1', 'score': 0.44}]
chr9	GH09I035101	35101665	35104758	2.27	[{'connected_gene': 'STOML2', 'score': 550.77}, {'connected_gene': 'PIGO', 'score': 48.12}, {'connected_gene': 'FANCG', 'score': 10.9}, {'connected_gene': 'VCP', 'score': 10.9}, {'connected_gene': 'ARHGEF39', 'score': 10.52}, {'connected_gene': 'FAM214B', 'score': 0.39}]
chr9	GH09I034987	34987964	34998595	2.46	[{'connected_gene': 'DNAJB5', 'score': 557.09}, {'connected_gene': 'UBAP2', 'score': 25.58}, {'connected_gene': 'VCP', 'score': 20.65}, {'connected_gene': 'FANCG', 'score': 16.22}, {'connected_gene': 'PIGO', 'score': 12.05}, {'connected_gene': 'FAM205A', 'score': 11.95}, {'connected_gene': 'C9orf131', 'score': 10.93}, {'connected_gene': 'ATP8B5P', 'score': 10.32}, {'connected_gene': 'RPP25L', 'score': 6.57}, {'connected_gene': 'FAM205C', 'score': 5.24}, {'connected_gene': 'IL11RA', 'score': 4.45}, {'connected_gene': 'GC09P034997', 'score': 0.77}, {'connected_gene': 'DNAJB5-AS1', 'score': 0.77}]
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	GH09I035078	35078044	35080862	1.99	[{'connected_gene': 'FANCG', 'score': 565.41}, {'connected_gene': 'VCP', 'score': 21.32}, {'connected_gene': 'ENSG00000228352', 'score': 16.36}, {'connected_gene': 'RGP1', 'score': 13.02}, {'connected_gene': 'ARHGEF39', 'score': 12.22}, {'connected_gene': 'PIGO', 'score': 12.01}, {'connected_gene': 'STOML2', 'score': 11.57}, {'connected_gene': 'FAM214B', 'score': 5.22}, {'connected_gene': 'PIR34260', 'score': 0.44}]
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	GH09I034456	34456285	34459232	2	[{'connected_gene': 'FAM219A', 'score': 556.45}, {'connected_gene': 'DNAI1', 'score': 550.77}, {'connected_gene': 'FANCG', 'score': 13.79}, {'connected_gene': 'NUDT2', 'score': 5.46}]
chr9	GH09I034513	34513530	34514025	0.49	[{'connected_gene': 'CNTFR', 'score': 11.31}, {'connected_gene': 'DNAI1', 'score': 11.19}, {'connected_gene': 'FAM219A', 'score': 11.19}, {'connected_gene': 'RPP25L', 'score': 10.85}, {'connected_gene': 'ARID3C', 'score': 10.25}, {'connected_gene': 'SIGMAR1', 'score': 10.25}, {'connected_gene': 'GALT', 'score': 10.25}, {'connected_gene': 'FANCG', 'score': 5.0}, {'connected_gene': 'PIR54959', 'score': 0.77}, {'connected_gene': 'RN7SKP24', 'score': 0.28}]
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	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}]