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
ENST00000370310	[[93307723, 93309752], [93312739, 93312916], [93316404, 93316512], [93341852, 93341987], [93426932, 93427057]]	[[93308939, 93309752], [93312739, 93312916], [93316404, 93316512], [93341852, 93341987], [93426932, 93426986]]
NM_001252273	[[93298285, 93298591], [93312739, 93312916], [93316404, 93316512], [93341852, 93341987], [93426932, 93427079]]	[[93298576, 93298591], [93312739, 93312916], [93316404, 93316512], [93341852, 93341987], [93426932, 93426986]]
NM_001252271	[[93307716, 93309752], [93312739, 93312916], [93316404, 93316512], [93341852, 93341987], [93342517, 93342707]]	[[93308939, 93309752], [93312739, 93312916], [93316404, 93316512], [93341852, 93341966]]
NM_001006605	[[93307716, 93309752], [93312739, 93312916], [93316404, 93316512], [93341852, 93341987], [93426932, 93427079]]	[[93308939, 93309752], [93312739, 93312916], [93316404, 93316512], [93341852, 93341987], [93426932, 93426986]]
NM_001252270	[[93307716, 93309752], [93316404, 93316512], [93341852, 93341987], [93426932, 93427079]]	[[93308939, 93309752], [93316404, 93316512], [93341852, 93341987], [93426932, 93426986]]
NM_001252269	[[93307716, 93309752], [93312739, 93312916], [93316404, 93316512], [93426932, 93427079]]	[[93308939, 93309752], [93312739, 93312916], [93316404, 93316512], [93426932, 93426986]]

Promoter

Chrom	Start	End	Description
chr1	93341989	93342000	CAGE_peak_7_at_FAM69A_5end
chr1	93342492	93342505	CAGE_peak_5_at_FAM69A_5end
chr1	93426998	93427056	CAGE_peak_1_at_FAM69A_5end
chr1	93427241	93427290	CAGE_peak_2_at_FAM69A_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I092964	92964400	92965548	0.63	[{'connected_gene': 'RPAP2', 'score': 10.47}, {'connected_gene': 'ENSG00000189195', 'score': 10.09}, {'connected_gene': 'FAM69A', 'score': 8.25}, {'connected_gene': 'GC01P092961', 'score': 0.77}, {'connected_gene': 'GC01M092970', 'score': 0.77}]
chr1	GH01I092902	92902783	92904779	0.38	[{'connected_gene': 'EVI5', 'score': 11.06}, {'connected_gene': 'RPL5', 'score': 11.04}, {'connected_gene': 'RNU6-970P', 'score': 10.28}, {'connected_gene': 'LOC100289500', 'score': 5.55}, {'connected_gene': 'LOC100127934', 'score': 0.31}, {'connected_gene': 'GC01M092852', 'score': 0.25}, {'connected_gene': 'FAM69A', 'score': 0.22}]
chr1	GH01I092857	92857770	92858511	0.6	[{'connected_gene': 'EVI5', 'score': 20.55}, {'connected_gene': 'SNORD21', 'score': 11.6}, {'connected_gene': 'RPL5', 'score': 11.58}, {'connected_gene': 'RNU6-970P', 'score': 11.13}, {'connected_gene': 'FAM69A', 'score': 9.54}, {'connected_gene': 'GC01M092852', 'score': 0.77}, {'connected_gene': 'LOC100127934', 'score': 0.19}]
chr1	GH01I092858	92858801	92859600	1.32	[{'connected_gene': 'EVI5', 'score': 20.91}, {'connected_gene': 'SNORD21', 'score': 11.6}, {'connected_gene': 'RPL5', 'score': 11.58}, {'connected_gene': 'RNU6-970P', 'score': 11.13}, {'connected_gene': 'GC01M092852', 'score': 0.44}, {'connected_gene': 'LOC100127934', 'score': 0.19}, {'connected_gene': 'FAM69A', 'score': 0.15}]
chr1	GH01I092949	92949583	92954160	1.38	[{'connected_gene': 'EVI5', 'score': 21.74}, {'connected_gene': 'SNORD21', 'score': 11.09}, {'connected_gene': 'SNORA66', 'score': 11.09}, {'connected_gene': 'RPL5', 'score': 11.08}, {'connected_gene': 'FAM69A', 'score': 7.95}, {'connected_gene': 'GC01P092958', 'score': 0.44}, {'connected_gene': 'GC01P092939', 'score': 0.39}]
chr1	GH01I092365	92365481	92367069	0.56	[{'connected_gene': 'EVI5', 'score': 11.48}, {'connected_gene': 'FAM69A', 'score': 4.89}, {'connected_gene': 'GC01P092398', 'score': 0.29}, {'connected_gene': 'RPAP2', 'score': 0.2}, {'connected_gene': 'GLMN', 'score': 0.18}]
chr1	GH01I092791	92791822	92792848	1.63	[{'connected_gene': 'EVI5', 'score': 557.36}, {'connected_gene': 'FAM69A', 'score': 8.89}, {'connected_gene': 'CCNJP2', 'score': 0.28}]
chr1	GH01I092989	92989368	92991580	0.8	[{'connected_gene': 'EVI5', 'score': 10.62}, {'connected_gene': 'FAM69A', 'score': 8.3}, {'connected_gene': 'GC01P092987', 'score': 0.77}, {'connected_gene': 'GC01P093011', 'score': 0.37}]
chr1	GH01I092886	92886830	92887184	0.85	[{'connected_gene': 'EVI5', 'score': 11.2}, {'connected_gene': 'GC01M092852', 'score': 0.29}, {'connected_gene': 'LOC100127934', 'score': 0.26}, {'connected_gene': 'FAM69A', 'score': 0.19}]
chr1	GH01I092979	92979718	92982670	0.96	[{'connected_gene': 'RPL5', 'score': 10.68}, {'connected_gene': 'SNORD21', 'score': 10.68}, {'connected_gene': 'SNORA66', 'score': 10.68}, {'connected_gene': 'FAM69A', 'score': 7.75}, {'connected_gene': 'GC01P092987', 'score': 0.44}, {'connected_gene': 'RN7SL692P', 'score': 0.44}, {'connected_gene': 'GC01P092961', 'score': 0.34}]
chr1	GH01I092831	92831312	92835545	2.14	[{'connected_gene': 'RPL5', 'score': 611.59}, {'connected_gene': 'GC01P092832', 'score': 550.77}, {'connected_gene': 'SNORA66', 'score': 94.11}, {'connected_gene': 'SNORD21', 'score': 86.82}, {'connected_gene': 'CCDC18-AS1', 'score': 63.47}, {'connected_gene': 'MTF2', 'score': 60.33}, {'connected_gene': 'MIG7', 'score': 42.32}, {'connected_gene': 'DR1', 'score': 40.0}, {'connected_gene': 'GLMN', 'score': 28.81}, {'connected_gene': 'RPAP2', 'score': 19.39}, {'connected_gene': 'KIAA1107', 'score': 10.88}, {'connected_gene': 'ENSG00000189195', 'score': 10.09}, {'connected_gene': 'EVI5', 'score': 9.9}, {'connected_gene': 'TGFBR3', 'score': 9.87}, {'connected_gene': 'FAM69A', 'score': 9.6}, {'connected_gene': 'GC01P092838', 'score': 0.77}]
chr1	GH01I092313	92313824	92319287	1.14	[{'connected_gene': 'FAM69A', 'score': 4.14}, {'connected_gene': 'RPAP2', 'score': 3.34}, {'connected_gene': 'TGFBR3', 'score': 2.64}, {'connected_gene': 'GC01P092398', 'score': 0.18}, {'connected_gene': 'GLMN', 'score': 0.13}]
chr1	GH01I092876	92876791	92878604	1.32	[{'connected_gene': 'FAM69A', 'score': 558.73}, {'connected_gene': 'EVI5', 'score': 12.09}, {'connected_gene': 'RPAP2', 'score': 10.47}, {'connected_gene': 'ENSG00000189195', 'score': 10.09}, {'connected_gene': 'GC01M092852', 'score': 0.34}, {'connected_gene': 'LOC100127934', 'score': 0.23}]
chr1	GH01I092907	92907657	92910902	0.62	[{'connected_gene': 'FAM69A', 'score': 11.75}, {'connected_gene': 'EVI5', 'score': 11.05}, {'connected_gene': 'SNORA66', 'score': 10.39}, {'connected_gene': 'SNORD21', 'score': 10.38}, {'connected_gene': 'RPL5', 'score': 10.37}, {'connected_gene': 'LOC100127934', 'score': 0.34}, {'connected_gene': 'GC01M092852', 'score': 0.22}]
chr1	GH01I092503	92503772	92506367	1.08	[{'connected_gene': 'FAM69A', 'score': 28.89}, {'connected_gene': 'EVI5', 'score': 17.58}, {'connected_gene': 'GC01P092511', 'score': 0.44}, {'connected_gene': 'GFI1', 'score': 0.37}]
chr1	GH01I092959	92959523	92963585	2.58	[{'connected_gene': 'FAM69A', 'score': 564.13}, {'connected_gene': 'GC01P092961', 'score': 550.77}, {'connected_gene': 'EVI5', 'score': 11.25}, {'connected_gene': 'DR1', 'score': 1.73}, {'connected_gene': 'MTF2', 'score': 1.46}, {'connected_gene': 'GC01M092970', 'score': 0.44}]
chr1	GH01I092934	92934450	92935280	1.16	[{'connected_gene': 'FAM69A', 'score': 38.06}, {'connected_gene': 'EVI5', 'score': 9.86}, {'connected_gene': 'LOC100127934', 'score': 0.77}, {'connected_gene': 'GC01P092939', 'score': 0.77}]
chr1	GH01I092797	92797767	92798604	0.2	[{'connected_gene': 'FAM69A', 'score': 11.32}, {'connected_gene': 'EVI5', 'score': 5.81}, {'connected_gene': 'GC01M092807', 'score': 0.39}]
chr1	GH01I092822	92822587	92823527	0.71	[{'connected_gene': 'FAM69A', 'score': 8.94}, {'connected_gene': 'RPL5', 'score': 0.44}, {'connected_gene': 'GC01M092816', 'score': 0.44}]
chr1	GH01I093041	93041915	93043322	0.95	[{'connected_gene': 'FAM69A', 'score': 11.58}, {'connected_gene': 'MTF2', 'score': 11.29}, {'connected_gene': 'SNORA66', 'score': 10.63}, {'connected_gene': 'SNORD21', 'score': 10.62}, {'connected_gene': 'RPL5', 'score': 10.62}, {'connected_gene': 'EVI5', 'score': 7.82}, {'connected_gene': 'ENSG00000251837', 'score': 0.37}, {'connected_gene': 'GC01M093028', 'score': 0.37}, {'connected_gene': 'GC01M093059', 'score': 0.34}]
chr1	GH01I092443	92443729	92445315	0.31	[{'connected_gene': 'FAM69A', 'score': 4.77}, {'connected_gene': 'GLMN', 'score': 0.77}, {'connected_gene': 'GC01P092463', 'score': 0.37}]
chr1	GH01I093000	93000259	93001413	0.77	[{'connected_gene': 'FAM69A', 'score': 16.2}, {'connected_gene': 'RNU6-970P', 'score': 11.82}, {'connected_gene': 'RPL5', 'score': 10.31}, {'connected_gene': 'SNORA66', 'score': 10.31}, {'connected_gene': 'SNORD21', 'score': 10.31}, {'connected_gene': 'EVI5', 'score': 9.22}, {'connected_gene': 'GC01P093011', 'score': 0.44}, {'connected_gene': 'GC01P092987', 'score': 0.39}]
chr1	GH01I092995	92995270	92996430	0.52	[{'connected_gene': 'FAM69A', 'score': 14.82}, {'connected_gene': 'RNU6-970P', 'score': 12.0}, {'connected_gene': 'MTF2', 'score': 10.51}, {'connected_gene': 'EVI5', 'score': 9.62}, {'connected_gene': 'GC01P092987', 'score': 0.44}, {'connected_gene': 'GC01P093011', 'score': 0.39}]
chr1	GH01I093698	93698431	93705213	1.65	[{'connected_gene': 'DNTTIP2', 'score': 7.99}, {'connected_gene': 'CCDC18-AS1', 'score': 5.27}, {'connected_gene': 'MIG7', 'score': 4.7}, {'connected_gene': 'DR1', 'score': 4.21}, {'connected_gene': 'FAM69A', 'score': 4.15}, {'connected_gene': 'BCAR3', 'score': 2.98}, {'connected_gene': 'GCLM', 'score': 1.82}, {'connected_gene': 'LOC102723480', 'score': 0.44}, {'connected_gene': 'GC01P093728', 'score': 0.31}]
chr1	GH01I092536	92536097	92539244	1.63	[{'connected_gene': 'SNORA66', 'score': 17.61}, {'connected_gene': 'EVI5', 'score': 15.51}, {'connected_gene': 'CCDC18-AS1', 'score': 13.49}, {'connected_gene': 'SNORD21', 'score': 12.39}, {'connected_gene': 'RPL5', 'score': 11.5}, {'connected_gene': 'FAM69A', 'score': 10.51}, {'connected_gene': 'RPAP2', 'score': 3.08}, {'connected_gene': 'GLMN', 'score': 2.89}, {'connected_gene': 'GFI1', 'score': 2.06}, {'connected_gene': 'GC01P092533', 'score': 0.77}, {'connected_gene': 'GC01P092559', 'score': 0.34}]
chr1	GH01I092482	92482232	92487537	2.44	[{'connected_gene': 'GFI1', 'score': 553.87}, {'connected_gene': 'MTF2', 'score': 32.51}, {'connected_gene': 'FAM69A', 'score': 28.84}, {'connected_gene': 'EVI5', 'score': 17.16}, {'connected_gene': 'CCDC18-AS1', 'score': 16.11}, {'connected_gene': 'SNORA66', 'score': 13.77}, {'connected_gene': 'GLMN', 'score': 12.3}, {'connected_gene': 'SNORD21', 'score': 10.54}, {'connected_gene': 'CCDC18', 'score': 10.22}, {'connected_gene': 'ENSG00000189195', 'score': 9.71}, {'connected_gene': 'GC01P092471', 'score': 0.39}]
chr1	GH01I092029	92029600	92031585	1.91	[{'connected_gene': 'EPHX4', 'score': 563.91}, {'connected_gene': 'FAM69A', 'score': 15.74}, {'connected_gene': 'SNORA66', 'score': 11.92}, {'connected_gene': 'GC01P092039', 'score': 0.44}]
chr1	GH01I093029	93029442	93030001	0.31	[{'connected_gene': 'MTF2', 'score': 11.34}, {'connected_gene': 'RNU6-970P', 'score': 10.61}, {'connected_gene': 'FAM69A', 'score': 10.19}, {'connected_gene': 'GC01M093028', 'score': 0.77}, {'connected_gene': 'ENSG00000251837', 'score': 0.77}, {'connected_gene': 'GC01M093059', 'score': 0.29}]
chr1	GH01I093078	93078194	93082676	2.16	[{'connected_gene': 'MTF2', 'score': 602.55}, {'connected_gene': 'CCDC18-AS1', 'score': 148.72}, {'connected_gene': 'SNORA66', 'score': 54.71}, {'connected_gene': 'SNORD21', 'score': 50.35}, {'connected_gene': 'TRR-TCT1-1', 'score': 41.02}, {'connected_gene': 'GLMN', 'score': 40.91}, {'connected_gene': 'RPAP2', 'score': 40.48}, {'connected_gene': 'RPL5', 'score': 29.2}, {'connected_gene': 'DR1', 'score': 27.09}, {'connected_gene': 'DNTTIP2', 'score': 21.03}, {'connected_gene': 'KIAA1107', 'score': 14.18}, {'connected_gene': 'CCDC18', 'score': 10.93}, {'connected_gene': 'TMED5', 'score': 10.93}, {'connected_gene': 'FAM69A', 'score': 6.36}, {'connected_gene': 'GC01P093073', 'score': 0.44}, {'connected_gene': 'GC01P093147', 'score': 0.2}]
chr1	GH01I092918	92918699	92921700	0.31	[{'connected_gene': 'RNU6-970P', 'score': 11.41}, {'connected_gene': 'EVI5', 'score': 10.36}, {'connected_gene': 'LOC100127934', 'score': 0.39}, {'connected_gene': 'FAM69A', 'score': 0.26}, {'connected_gene': 'GC01M092852', 'score': 0.2}]
chr1	GH01I092944	92944601	92945200	0.51	[{'connected_gene': 'RNU6-970P', 'score': 11.54}, {'connected_gene': 'ENSG00000207022', 'score': 10.46}, {'connected_gene': 'FAM69A', 'score': 9.71}, {'connected_gene': 'GC01P092939', 'score': 0.44}, {'connected_gene': 'GC01P092958', 'score': 0.39}]
chr1	GH01I092943	92943201	92943600	0.76	[{'connected_gene': 'RNU6-970P', 'score': 11.51}, {'connected_gene': 'ENSG00000207022', 'score': 10.46}, {'connected_gene': 'GC01P092939', 'score': 0.77}, {'connected_gene': 'GC01P092958', 'score': 0.39}, {'connected_gene': 'FAM69A', 'score': 0.37}]
chr1	GH01I092916	92916984	92917133	0.69	[{'connected_gene': 'RNU6-970P', 'score': 11.4}, {'connected_gene': 'LOC100127934', 'score': 0.39}, {'connected_gene': 'FAM69A', 'score': 0.26}, {'connected_gene': 'GC01M092852', 'score': 0.21}]
chr1	GH01I092975	92973776	92979042	1.32	[{'connected_gene': 'RN7SL692P', 'score': 550.77}, {'connected_gene': 'MTF2', 'score': 29.12}, {'connected_gene': 'CCDC18-AS1', 'score': 16.78}, {'connected_gene': 'SNORA66', 'score': 15.88}, {'connected_gene': 'TRR-TCT1-1', 'score': 14.66}, {'connected_gene': 'SNORD21', 'score': 12.06}, {'connected_gene': 'RPL5', 'score': 10.62}, {'connected_gene': 'EVI5', 'score': 10.43}, {'connected_gene': 'KIAA1107', 'score': 10.41}, {'connected_gene': 'MIG7', 'score': 10.27}, {'connected_gene': 'DR1', 'score': 10.16}, {'connected_gene': 'FAM69A', 'score': 8.32}, {'connected_gene': 'GC01P092987', 'score': 0.39}, {'connected_gene': 'GC01P092961', 'score': 0.37}]
chr1	GH01I093324	93324214	93326134	1.1	[{'connected_gene': 'CCDC18-AS1', 'score': 73.94}, {'connected_gene': 'DR1', 'score': 12.49}, {'connected_gene': 'CCDC18', 'score': 9.9}, {'connected_gene': 'FAM69A', 'score': 5.46}, {'connected_gene': 'FNBP1L', 'score': 4.63}, {'connected_gene': 'GC01P093330', 'score': 0.77}, {'connected_gene': 'GC01P093285', 'score': 0.28}]
chr1	GH01I092926	92926193	92931734	0.63	[{'connected_gene': 'LOC100127934', 'score': 550.77}, {'connected_gene': 'EVI5', 'score': 12.24}, {'connected_gene': 'SNORA66', 'score': 10.65}, {'connected_gene': 'SNORD21', 'score': 10.64}, {'connected_gene': 'RPL5', 'score': 10.63}, {'connected_gene': 'FAM69A', 'score': 6.98}, {'connected_gene': 'GC01M092852', 'score': 0.18}]
chr1	GH01I092933	92933564	92933713	0.46	[{'connected_gene': 'LOC100127934', 'score': 0.77}, {'connected_gene': 'GC01P092939', 'score': 0.44}, {'connected_gene': 'FAM69A', 'score': 0.31}]
chr1	GH01I092882	92882379	92885362	0.72	[{'connected_gene': 'ENSG00000207022', 'score': 11.52}, {'connected_gene': 'EVI5', 'score': 9.91}, {'connected_gene': 'GC01M092852', 'score': 0.29}, {'connected_gene': 'LOC100127934', 'score': 0.25}, {'connected_gene': 'FAM69A', 'score': 0.18}]
chr1	GH01I092810	92810147	92811190	0.46	[{'connected_gene': 'GC01M092807', 'score': 550.77}, {'connected_gene': 'RPL5', 'score': 11.36}, {'connected_gene': 'SNORD21', 'score': 11.33}, {'connected_gene': 'SNORA66', 'score': 11.31}, {'connected_gene': 'EVI5', 'score': 9.91}, {'connected_gene': 'FAM69A', 'score': 9.82}, {'connected_gene': 'GC01M092816', 'score': 0.44}]
chr1	GH01I092808	92808365	92809193	0.46	[{'connected_gene': 'GC01M092807', 'score': 550.77}, {'connected_gene': 'RPL5', 'score': 11.36}, {'connected_gene': 'SNORD21', 'score': 11.33}, {'connected_gene': 'SNORA66', 'score': 11.31}, {'connected_gene': 'FAM69A', 'score': 9.44}, {'connected_gene': 'EVI5', 'score': 0.37}]
chr1	GH01I092853	92853844	92854943	0.43	[{'connected_gene': 'GC01M092852', 'score': 550.77}, {'connected_gene': 'FAM69A', 'score': 18.38}, {'connected_gene': 'EVI5', 'score': 16.31}, {'connected_gene': 'RPL5', 'score': 11.6}, {'connected_gene': 'RNU6-970P', 'score': 11.12}, {'connected_gene': 'LOC100127934', 'score': 0.18}]
chr1	GH01I092854	92853464	92853613	0.31	[{'connected_gene': 'GC01M092852', 'score': 550.77}, {'connected_gene': 'FAM69A', 'score': 11.69}, {'connected_gene': 'RPL5', 'score': 11.04}, {'connected_gene': 'GC01M092844', 'score': 0.44}]
chr1	GH01I092852	92852284	92852433	0.84	[{'connected_gene': 'GC01M092852', 'score': 550.77}, {'connected_gene': 'FAM69A', 'score': 11.69}, {'connected_gene': 'RPL5', 'score': 11.04}, {'connected_gene': 'GC01M092844', 'score': 0.44}]
chr1	GH01I092956	92956261	92957679	1.32	[{'connected_gene': 'GC01P092958', 'score': 550.77}, {'connected_gene': 'ENSG00000207022', 'score': 10.78}, {'connected_gene': 'FAM69A', 'score': 8.13}, {'connected_gene': 'GC01P092939', 'score': 0.37}]
chr1	GH01I092922	92922464	92922613	0.68	[{'connected_gene': 'ENSG00000207022', 'score': 10.43}, {'connected_gene': 'SNORA66', 'score': 10.3}, {'connected_gene': 'SNORD21', 'score': 10.29}, {'connected_gene': 'RPL5', 'score': 10.28}, {'connected_gene': 'LOC100127934', 'score': 0.44}, {'connected_gene': 'FAM69A', 'score': 0.28}, {'connected_gene': 'GC01M092852', 'score': 0.2}]
chr1	GH01I092924	92924292	92925031	0.92	[{'connected_gene': 'ENSG00000207022', 'score': 10.43}, {'connected_gene': 'SNORA66', 'score': 10.3}, {'connected_gene': 'SNORD21', 'score': 10.29}, {'connected_gene': 'RPL5', 'score': 10.28}, {'connected_gene': 'LOC100127934', 'score': 0.44}, {'connected_gene': 'FAM69A', 'score': 0.28}, {'connected_gene': 'GC01M092852', 'score': 0.19}]
chr1	GH01I092968	92968001	92968413	0.89	[{'connected_gene': 'GC01M092970', 'score': 550.77}, {'connected_gene': 'RNU6-970P', 'score': 550.77}, {'connected_gene': 'GC01P092961', 'score': 0.44}, {'connected_gene': 'FAM69A', 'score': 0.44}]
chr1	GH01I092935	92935801	92936000	0.87	[{'connected_gene': 'GC01P092939', 'score': 0.77}, {'connected_gene': 'LOC100127934', 'score': 0.44}, {'connected_gene': 'FAM69A', 'score': 0.31}]