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

Promoter

Chrom	Start	End	Description
chr19	47349395	47349412	CAGE_peak_6_at_AP2S1_5end
chr19	47354061	47354076	CAGE_peak_2_at_AP2S1_5end
chr19	47354082	47354132	CAGE_peak_1_at_AP2S1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I046819	46819838	46825738	1.15	[{'connected_gene': 'FKRP', 'score': 21.6}, {'connected_gene': 'SLC1A5', 'score': 12.8}, {'connected_gene': 'STRN4', 'score': 11.92}, {'connected_gene': 'AP2S1', 'score': 11.7}, {'connected_gene': 'PRKD2', 'score': 11.19}, {'connected_gene': 'MIR320E', 'score': 11.17}, {'connected_gene': 'TMEM160', 'score': 10.41}, {'connected_gene': 'ENSG00000269014', 'score': 0.44}, {'connected_gene': 'HNRNPMP2', 'score': 0.39}]
chr19	GH19I046696	46696817	46698498	1.09	[{'connected_gene': 'FKRP', 'score': 41.08}, {'connected_gene': 'STRN4', 'score': 26.79}, {'connected_gene': 'AP2S1', 'score': 10.59}, {'connected_gene': 'PRKD2', 'score': 5.03}, {'connected_gene': 'RN7SL364P', 'score': 0.44}, {'connected_gene': 'MIR320E', 'score': 0.39}]
chr19	GH19I046838	46838344	46839161	0.31	[{'connected_gene': 'GAPDHP38', 'score': 4.94}, {'connected_gene': 'SNAR-E', 'score': 0.44}, {'connected_gene': 'PIR58352', 'score': 0.44}, {'connected_gene': 'AP2S1', 'score': 0.39}]
chr19	GH19I046839	46839334	46842523	1.28	[{'connected_gene': 'CCDC61', 'score': 17.52}, {'connected_gene': 'SYMPK', 'score': 14.03}, {'connected_gene': 'STRN4', 'score': 11.93}, {'connected_gene': 'ZC3H4', 'score': 11.88}, {'connected_gene': 'AP2S1', 'score': 7.88}, {'connected_gene': 'GAPDHP38', 'score': 5.06}, {'connected_gene': 'PIR58352', 'score': 0.44}, {'connected_gene': 'SNAR-E', 'score': 0.39}]
chr19	GH19I046759	46759251	46763078	1.04	[{'connected_gene': 'STRN4', 'score': 23.99}, {'connected_gene': 'SLC1A5', 'score': 22.07}, {'connected_gene': 'PRKD2', 'score': 11.51}, {'connected_gene': 'MIR320E', 'score': 11.19}, {'connected_gene': 'AP2S1', 'score': 11.17}, {'connected_gene': 'GNG8', 'score': 10.88}, {'connected_gene': 'ARHGAP35', 'score': 10.58}, {'connected_gene': 'TMEM160', 'score': 10.18}, {'connected_gene': 'FKRP', 'score': 7.84}, {'connected_gene': 'PIR51442', 'score': 0.77}, {'connected_gene': 'ENSG00000275719', 'score': 0.31}]
chr19	GH19I046983	46983848	46986363	1.63	[{'connected_gene': 'ARHGAP35', 'score': 16.98}, {'connected_gene': 'TMEM160', 'score': 11.44}, {'connected_gene': 'AP2S1', 'score': 11.37}, {'connected_gene': 'FKRP', 'score': 10.42}, {'connected_gene': 'STRN4', 'score': 10.42}, {'connected_gene': 'ZC3H4', 'score': 7.83}, {'connected_gene': 'C5AR1', 'score': 3.69}, {'connected_gene': 'DHX34', 'score': 2.71}, {'connected_gene': 'CCDC9', 'score': 2.04}, {'connected_gene': 'PIR46184', 'score': 0.37}, {'connected_gene': 'GC19P047005', 'score': 0.37}, {'connected_gene': 'GC19P046965', 'score': 0.37}]
chr19	GH19I046872	46872807	46873513	0.46	[{'connected_gene': 'ARHGAP35', 'score': 11.62}, {'connected_gene': 'TMEM160', 'score': 10.36}, {'connected_gene': 'AP2S1', 'score': 4.67}, {'connected_gene': 'GC19M046858', 'score': 0.44}]
chr19	GH19I046961	46961819	46964864	0.86	[{'connected_gene': 'ARHGAP35', 'score': 11.76}, {'connected_gene': 'AP2S1', 'score': 11.25}, {'connected_gene': 'TMEM160', 'score': 10.83}, {'connected_gene': 'FKRP', 'score': 10.25}, {'connected_gene': 'STRN4', 'score': 10.25}, {'connected_gene': 'NPAS1', 'score': 6.22}, {'connected_gene': 'GC19P046965', 'score': 0.77}, {'connected_gene': 'GC19M046915', 'score': 0.44}]
chr19	GH19I046957	46957366	46958220	0.46	[{'connected_gene': 'ARHGAP35', 'score': 11.42}, {'connected_gene': 'AP2S1', 'score': 10.92}, {'connected_gene': 'SAE1', 'score': 10.6}, {'connected_gene': 'GC19M046915', 'score': 0.77}, {'connected_gene': 'GC19P046965', 'score': 0.44}]
chr19	GH19I046920	46920424	46920633	0.51	[{'connected_gene': 'ARHGAP35', 'score': 550.77}, {'connected_gene': 'PIR40993', 'score': 550.77}, {'connected_gene': 'AP2S1', 'score': 11.59}, {'connected_gene': 'ENSG00000279948', 'score': 0.31}, {'connected_gene': 'GC19M046915', 'score': 0.29}]
chr19	GH19I046919	46919435	46919707	0.51	[{'connected_gene': 'ARHGAP35', 'score': 550.77}, {'connected_gene': 'PIR40993', 'score': 550.77}, {'connected_gene': 'AP2S1', 'score': 11.59}, {'connected_gene': 'ENSG00000279948', 'score': 0.31}, {'connected_gene': 'GC19M046915', 'score': 0.29}]
chr19	GH19I046859	46859201	46867667	1.83	[{'connected_gene': 'CCDC9', 'score': 20.64}, {'connected_gene': 'CCDC61', 'score': 15.39}, {'connected_gene': 'ZC3H4', 'score': 13.62}, {'connected_gene': 'BICRA', 'score': 13.42}, {'connected_gene': 'ARHGAP35', 'score': 12.9}, {'connected_gene': 'SLC1A5', 'score': 12.74}, {'connected_gene': 'ENSG00000269124', 'score': 12.49}, {'connected_gene': 'TMEM160', 'score': 10.76}, {'connected_gene': 'ENSG00000268810', 'score': 10.16}, {'connected_gene': 'PPP5C', 'score': 9.99}, {'connected_gene': 'SAE1', 'score': 9.7}, {'connected_gene': 'AP2S1', 'score': 6.45}, {'connected_gene': 'PNMA8A', 'score': 5.92}, {'connected_gene': 'PNMA8B', 'score': 5.14}, {'connected_gene': 'CALM3', 'score': 3.96}, {'connected_gene': 'DACT3', 'score': 3.43}, {'connected_gene': 'PIR57810', 'score': 0.77}, {'connected_gene': 'GC19M046858', 'score': 0.77}]
chr19	GH19I046889	46889361	46894485	1.39	[{'connected_gene': 'PRKD2', 'score': 20.5}, {'connected_gene': 'BICRA', 'score': 15.07}, {'connected_gene': 'ARHGAP35', 'score': 12.55}, {'connected_gene': 'ENSG00000268746', 'score': 12.24}, {'connected_gene': 'NOP53', 'score': 12.21}, {'connected_gene': 'ZC3H4', 'score': 12.0}, {'connected_gene': 'AP2S1', 'score': 12.0}, {'connected_gene': 'NOP53-AS1', 'score': 11.03}, {'connected_gene': 'ENSG00000268810', 'score': 10.99}, {'connected_gene': 'EHD2', 'score': 10.96}, {'connected_gene': 'INAFM1', 'score': 10.37}, {'connected_gene': 'TMEM160', 'score': 10.34}, {'connected_gene': 'FKRP', 'score': 10.06}, {'connected_gene': 'STRN4', 'score': 10.06}, {'connected_gene': 'GC19M046858', 'score': 0.31}]
chr19	GH19I046974	46974238	46979141	1.25	[{'connected_gene': 'ZC3H4', 'score': 18.25}, {'connected_gene': 'CCDC61', 'score': 17.19}, {'connected_gene': 'BICRA', 'score': 12.14}, {'connected_gene': 'ARHGAP35', 'score': 11.58}, {'connected_gene': 'AP2S1', 'score': 11.15}, {'connected_gene': 'TMEM160', 'score': 11.09}, {'connected_gene': 'ENSG00000268810', 'score': 10.71}, {'connected_gene': 'SAE1', 'score': 10.47}, {'connected_gene': 'NPAS1', 'score': 6.38}, {'connected_gene': 'GC19P046965', 'score': 0.39}, {'connected_gene': 'PIR46184', 'score': 0.34}, {'connected_gene': 'GC19P047005', 'score': 0.34}]
chr19	GH19I046848	46848229	46851573	2.29	[{'connected_gene': 'AP2S1', 'score': 558.07}, {'connected_gene': 'CCDC61', 'score': 37.3}, {'connected_gene': 'ZC3H4', 'score': 36.53}, {'connected_gene': 'BICRA', 'score': 27.29}, {'connected_gene': 'ENSG00000268810', 'score': 24.97}, {'connected_gene': 'PRKD2', 'score': 21.0}, {'connected_gene': 'SNORD23', 'score': 12.9}, {'connected_gene': 'IRF2BP1', 'score': 12.18}, {'connected_gene': 'STRN4', 'score': 11.59}, {'connected_gene': 'FKRP', 'score': 11.58}, {'connected_gene': 'ARHGAP35', 'score': 10.6}, {'connected_gene': 'NOP53', 'score': 10.1}, {'connected_gene': 'CCDC9', 'score': 9.99}, {'connected_gene': 'ENSG00000268746', 'score': 9.8}, {'connected_gene': 'NOP53-AS1', 'score': 9.66}, {'connected_gene': 'PIR58352', 'score': 0.77}]
chr19	GH19I046990	46990014	46994538	1.36	[{'connected_gene': 'AP2S1', 'score': 11.89}, {'connected_gene': 'TMEM160', 'score': 11.52}, {'connected_gene': 'ARHGAP35', 'score': 11.38}, {'connected_gene': 'SAE1', 'score': 11.1}, {'connected_gene': 'ZC3H4', 'score': 10.15}, {'connected_gene': 'PIR46184', 'score': 0.44}, {'connected_gene': 'GC19P047005', 'score': 0.44}, {'connected_gene': 'GC19P046965', 'score': 0.31}]
chr19	GH19I046898	46898691	46899305	0.92	[{'connected_gene': 'AP2S1', 'score': 11.31}, {'connected_gene': 'TMEM160', 'score': 10.13}, {'connected_gene': 'PRKD2', 'score': 9.16}, {'connected_gene': 'ARHGAP35', 'score': 0.37}, {'connected_gene': 'GC19M046858', 'score': 0.29}]
chr19	GH19I046923	46923964	46928514	1.33	[{'connected_gene': 'AP2S1', 'score': 15.91}, {'connected_gene': 'TMEM160', 'score': 10.63}, {'connected_gene': 'SAE1', 'score': 9.93}, {'connected_gene': 'ARHGAP35', 'score': 0.44}, {'connected_gene': 'PIR40993', 'score': 0.44}, {'connected_gene': 'ENSG00000279948', 'score': 0.34}, {'connected_gene': 'GC19M046915', 'score': 0.31}]
chr19	GH19I046877	46877986	46880667	0.77	[{'connected_gene': 'AP2S1', 'score': 12.33}, {'connected_gene': 'ARHGAP35', 'score': 12.19}, {'connected_gene': 'PNMA8A', 'score': 11.29}, {'connected_gene': 'ZC3H4', 'score': 10.73}, {'connected_gene': 'GC19M046858', 'score': 0.39}]
chr19	GH19I046967	46967241	46968531	0.83	[{'connected_gene': 'AP2S1', 'score': 16.46}, {'connected_gene': 'ARHGAP35', 'score': 11.72}, {'connected_gene': 'TMEM160', 'score': 10.53}, {'connected_gene': 'NPAS1', 'score': 5.71}, {'connected_gene': 'GC19P046965', 'score': 0.77}, {'connected_gene': 'PIR46184', 'score': 0.29}, {'connected_gene': 'GC19P047005', 'score': 0.29}]
chr19	GH19I046960	46960072	46961083	0.31	[{'connected_gene': 'AP2S1', 'score': 17.32}, {'connected_gene': 'ARHGAP35', 'score': 11.76}, {'connected_gene': 'TMEM160', 'score': 10.83}, {'connected_gene': 'SAE1', 'score': 10.6}, {'connected_gene': 'FKRP', 'score': 10.55}, {'connected_gene': 'STRN4', 'score': 10.54}, {'connected_gene': 'GC19P046965', 'score': 0.44}, {'connected_gene': 'GC19M046915', 'score': 0.44}]
chr19	GH19I046969	46969106	46973098	0.83	[{'connected_gene': 'AP2S1', 'score': 17.11}, {'connected_gene': 'ARHGAP35', 'score': 11.59}, {'connected_gene': 'TMEM160', 'score': 10.95}, {'connected_gene': 'SAE1', 'score': 9.9}, {'connected_gene': 'NPAS1', 'score': 5.72}, {'connected_gene': 'GC19P046965', 'score': 0.44}, {'connected_gene': 'PIR46184', 'score': 0.29}, {'connected_gene': 'GC19P047005', 'score': 0.29}]
chr19	GH19I046884	46884844	46888949	0.6	[{'connected_gene': 'AP2S1', 'score': 18.32}, {'connected_gene': 'ARHGAP35', 'score': 11.91}, {'connected_gene': 'STRN4', 'score': 10.67}, {'connected_gene': 'FKRP', 'score': 10.67}, {'connected_gene': 'PRKD2', 'score': 10.44}, {'connected_gene': 'PPP5D1', 'score': 10.43}, {'connected_gene': 'GC19M046858', 'score': 0.34}]
chr19	GH19I046958	46958304	46959707	1.13	[{'connected_gene': 'AP2S1', 'score': 16.99}, {'connected_gene': 'ARHGAP35', 'score': 11.41}, {'connected_gene': 'SAE1', 'score': 10.6}, {'connected_gene': 'GC19P046965', 'score': 0.44}, {'connected_gene': 'GC19M046915', 'score': 0.44}]
chr19	GH19I046913	46913202	46914635	1.22	[{'connected_gene': 'AP2S1', 'score': 6.33}, {'connected_gene': 'ARHGAP35', 'score': 0.77}, {'connected_gene': 'GC19M046915', 'score': 0.28}, {'connected_gene': 'GC19M046858', 'score': 0.25}]
chr19	GH19I046873	46873761	46876140	1.15	[{'connected_gene': 'AP2S1', 'score': 18.42}, {'connected_gene': 'ARHGAP35', 'score': 12.18}, {'connected_gene': 'GC19M046858', 'score': 0.44}]
chr19	GH19I046880	46880929	46881827	0.4	[{'connected_gene': 'AP2S1', 'score': 12.31}, {'connected_gene': 'ARHGAP35', 'score': 12.19}, {'connected_gene': 'GC19M046858', 'score': 0.37}]
chr19	GH19I046901	46901460	46905584	1.2	[{'connected_gene': 'AP2S1', 'score': 4.92}, {'connected_gene': 'ARHGAP35', 'score': 0.37}, {'connected_gene': 'GC19M046858', 'score': 0.28}]
chr19	GH19I046881	46880732	46880861	0.4	[{'connected_gene': 'AP2S1', 'score': 12.33}, {'connected_gene': 'ARHGAP35', 'score': 12.19}, {'connected_gene': 'GC19M046858', 'score': 0.37}]
chr19	GH19I046932	46932400	46934000	0.86	[{'connected_gene': 'AP2S1', 'score': 11.51}, {'connected_gene': 'SAE1', 'score': 9.93}, {'connected_gene': 'ARHGAP35', 'score': 0.39}, {'connected_gene': 'ENSG00000279948', 'score': 0.39}, {'connected_gene': 'PIR40993', 'score': 0.39}, {'connected_gene': 'GC19M046915', 'score': 0.34}]
chr19	GH19I046930	46930109	46932175	0.31	[{'connected_gene': 'AP2S1', 'score': 11.51}, {'connected_gene': 'SAE1', 'score': 9.93}, {'connected_gene': 'ARHGAP35', 'score': 0.39}, {'connected_gene': 'PIR40993', 'score': 0.39}, {'connected_gene': 'ENSG00000279948', 'score': 0.37}, {'connected_gene': 'GC19M046915', 'score': 0.34}]
chr19	GH19I046843	46843253	46844820	0.92	[{'connected_gene': 'ENSG00000268810', 'score': 19.02}, {'connected_gene': 'ZC3H4', 'score': 17.88}, {'connected_gene': 'CCDC61', 'score': 16.21}, {'connected_gene': 'SYMPK', 'score': 12.66}, {'connected_gene': 'NOP53-AS1', 'score': 10.72}, {'connected_gene': 'BICRA', 'score': 10.07}, {'connected_gene': 'PIR58352', 'score': 0.77}, {'connected_gene': 'AP2S1', 'score': 0.44}, {'connected_gene': 'SNAR-E', 'score': 0.39}]
chr19	GH19I046949	46949454	46956804	1.66	[{'connected_gene': 'GC19M046915', 'score': 550.77}, {'connected_gene': 'AP2S1', 'score': 16.63}, {'connected_gene': 'ARHGAP35', 'score': 11.44}, {'connected_gene': 'SAE1', 'score': 10.59}, {'connected_gene': 'ZC3H4', 'score': 1.85}, {'connected_gene': 'CCDC9', 'score': 1.44}, {'connected_gene': 'ENSG00000279948', 'score': 0.44}]
chr19	GH19I046847	46847644	46847793	0.2	[{'connected_gene': 'PIR58352', 'score': 550.77}, {'connected_gene': 'AP2S1', 'score': 0.77}]
chr19	GH19I046845	46845801	46846800	0.97	[{'connected_gene': 'PIR58352', 'score': 550.77}, {'connected_gene': 'AP2S1', 'score': 0.77}]
chr19	GH19I046855	46855601	46857859	1.37	[{'connected_gene': 'PIR57810', 'score': 0.77}, {'connected_gene': 'AP2S1', 'score': 0.44}]

Transcript ID	Transcript exon region	Coding exon region
ENST00000352203	[[47341392, 47341805], [47341996, 47342056], [47342721, 47342877], [47349249, 47349399], [47354020, 47354034]]	[[47341703, 47341805], [47341996, 47342056], [47342721, 47342877], [47349249, 47349399], [47354020, 47354023]]
ENST00000601498	[[47341414, 47341805], [47341996, 47342056], [47342721, 47342835], [47349249, 47349399], [47353390, 47353573]]	[[47341703, 47341805], [47341996, 47342056], [47342721, 47342835], [47349249, 47349399], [47353390, 47353441]]
ENST00000599990	[[47341414, 47341805], [47341996, 47342056], [47342721, 47342835], [47349249, 47349399], [47353912, 47354026]]	[[47341703, 47341805], [47341996, 47342056], [47342721, 47342835], [47349249, 47349399], [47353912, 47353921]]
ENST00000593442	[[47341414, 47341805], [47341996, 47342056], [47342721, 47342835], [47354020, 47354091]]	[[47341703, 47341805], [47341996, 47342056], [47342721, 47342835], [47354020, 47354023]]
ENST00000263270	[[47341423, 47341805], [47341996, 47342056], [47342721, 47342835], [47349249, 47349399], [47354020, 47354249]]	[[47341703, 47341805], [47341996, 47342056], [47342721, 47342835], [47349249, 47349399], [47354020, 47354023]]
ENST00000600964	[[47341428, 47341805], [47341996, 47342077]]	None
ENST00000597020	[[47341428, 47341805], [47341996, 47342056], [47342721, 47342835], [47349249, 47349405]]	[[47341703, 47341805], [47341996, 47342056], [47342721, 47342835], [47349249, 47349342]]
ENST00000598027	[[47341702, 47341805], [47341996, 47342056], [47342721, 47342913]]	None
ENST00000601649	[[47341703, 47341805], [47341996, 47342056], [47349249, 47349399], [47354020, 47354023]]	[[47341703, 47341805], [47341996, 47342056], [47349249, 47349399], [47354020, 47354023]]
ENST00000597421	[[47348907, 47349399], [47354020, 47354082]]	None
NM_001301076	[[47341414, 47341805], [47341996, 47342056], [47342721, 47342835], [47349249, 47349399], [47353390, 47353547]]	[[47341703, 47341805], [47341996, 47342056], [47342721, 47342835], [47349249, 47349399], [47353390, 47353441]]
NM_001301081	[[47341414, 47341805], [47341996, 47342056], [47342721, 47342835], [47349249, 47349399], [47353912, 47354026]]	[[47341703, 47341805], [47341996, 47342056], [47342721, 47342835], [47349249, 47349399], [47353912, 47353921]]
NM_001301078	[[47341414, 47341805], [47341996, 47342056], [47342721, 47342877], [47349249, 47349399], [47354020, 47354252]]	[[47341703, 47341805], [47341996, 47342056], [47342721, 47342877], [47349249, 47349399], [47354020, 47354023]]
NM_004069	[[47341414, 47341805], [47341996, 47342056], [47342721, 47342835], [47349249, 47349399], [47354020, 47354252]]	[[47341703, 47341805], [47341996, 47342056], [47342721, 47342835], [47349249, 47349399], [47354020, 47354023]]
NM_021575	[[47341414, 47341805], [47341996, 47342056], [47349249, 47349399], [47354020, 47354252]]	[[47341703, 47341805], [47341996, 47342056], [47349249, 47349399], [47354020, 47354023]]