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
ENST00000253047	[[47549164, 47549510], [47549850, 47549943], [47551664, 47551888]]	[[47549244, 47549510], [47549850, 47549943], [47551664, 47551872]]
NM_017854	[[47549166, 47549510], [47549850, 47549943], [47551664, 47551882]]	[[47549244, 47549510], [47549850, 47549943], [47551664, 47551872]]

Promoter

Chrom	Start	End	Description
chr19	47551805	47551808	CAGE_peak_3_at_TMEM160_5end
chr19	47551818	47551835	CAGE_peak_2_at_TMEM160_5end
chr19	47551836	47551908	CAGE_peak_1_at_TMEM160_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	GH19I046813	46813401	46814753	1	[{'connected_gene': 'FKRP', 'score': 16.29}, {'connected_gene': 'BICRA', 'score': 15.07}, {'connected_gene': 'SLC1A5', 'score': 12.25}, {'connected_gene': 'ENSG00000268746', 'score': 12.25}, {'connected_gene': 'NOP53', 'score': 12.21}, {'connected_gene': 'ZC3H4', 'score': 11.99}, {'connected_gene': 'STRN4', 'score': 11.42}, {'connected_gene': 'NOP53-AS1', 'score': 11.03}, {'connected_gene': 'ENSG00000268810', 'score': 11.0}, {'connected_gene': 'EHD2', 'score': 10.96}, {'connected_gene': 'PRKD2', 'score': 10.96}, {'connected_gene': 'TMEM160', 'score': 10.4}, {'connected_gene': 'INAFM1', 'score': 10.37}, {'connected_gene': 'HNRNPMP2', 'score': 0.77}, {'connected_gene': 'ENSG00000269014', 'score': 0.39}]
chr19	GH19I047047	47047329	47049875	2.32	[{'connected_gene': 'TMEM160', 'score': 550.77}, {'connected_gene': 'ZC3H4', 'score': 24.86}, {'connected_gene': 'CCDC9', 'score': 18.9}, {'connected_gene': 'SLC1A5', 'score': 12.61}, {'connected_gene': 'NOP53-AS1', 'score': 11.89}, {'connected_gene': 'PNMA8A', 'score': 4.32}, {'connected_gene': 'PIR57310', 'score': 0.31}]
chr19	GH19I047149	47149624	47149773	0.63	[{'connected_gene': 'TMEM160', 'score': 11.23}, {'connected_gene': 'ZC3H4', 'score': 0.28}, {'connected_gene': 'SAE1', 'score': 0.28}, {'connected_gene': 'MIR3190', 'score': 0.18}]
chr19	GH19I047101	47101896	47103384	0.2	[{'connected_gene': 'TMEM160', 'score': 12.23}, {'connected_gene': 'ZC3H4', 'score': 0.39}, {'connected_gene': 'SAE1', 'score': 0.39}, {'connected_gene': 'GC19P047078', 'score': 0.34}]
chr19	GH19I047104	47104613	47105374	0.66	[{'connected_gene': 'TMEM160', 'score': 11.26}, {'connected_gene': 'ZC3H4', 'score': 0.44}, {'connected_gene': 'SAE1', 'score': 0.44}, {'connected_gene': 'GC19P047078', 'score': 0.31}]
chr19	GH19I047093	47093176	47100814	1.7	[{'connected_gene': 'TMEM160', 'score': 11.87}, {'connected_gene': 'SAE1', 'score': 7.45}, {'connected_gene': 'PNMA8A', 'score': 4.6}, {'connected_gene': 'ZC3H4', 'score': 0.37}, {'connected_gene': 'GC19P047078', 'score': 0.37}]
chr19	GH19I047081	47081184	47081333	0.31	[{'connected_gene': 'TMEM160', 'score': 12.57}, {'connected_gene': 'SAE1', 'score': 12.46}, {'connected_gene': 'GC19P047078', 'score': 0.77}, {'connected_gene': 'ZC3H4', 'score': 0.29}]
chr19	GH19I046764	46764468	46765558	1.03	[{'connected_gene': 'STRN4', 'score': 22.72}, {'connected_gene': 'SLC1A5', 'score': 13.26}, {'connected_gene': 'PRKD2', 'score': 11.5}, {'connected_gene': 'MIR320E', 'score': 11.18}, {'connected_gene': 'GNG8', 'score': 10.88}, {'connected_gene': 'TMEM160', 'score': 10.18}, {'connected_gene': 'ARHGAP35', 'score': 9.9}, {'connected_gene': 'FKRP', 'score': 5.74}, {'connected_gene': 'PIR51442', 'score': 0.44}, {'connected_gene': 'ENSG00000275719', 'score': 0.34}]
chr19	GH19I046766	46766117	46766515	0.73	[{'connected_gene': 'STRN4', 'score': 16.2}, {'connected_gene': 'SLC1A5', 'score': 14.94}, {'connected_gene': 'PRKD2', 'score': 11.5}, {'connected_gene': 'MIR320E', 'score': 11.18}, {'connected_gene': 'GNG8', 'score': 10.87}, {'connected_gene': 'TMEM160', 'score': 10.18}, {'connected_gene': 'ARHGAP35', 'score': 9.9}, {'connected_gene': 'PIR51442', 'score': 0.44}, {'connected_gene': 'ENSG00000275719', 'score': 0.34}, {'connected_gene': 'FKRP', 'score': 0.34}]
chr19	GH19I046767	46766922	46767478	0.79	[{'connected_gene': 'STRN4', 'score': 21.87}, {'connected_gene': 'SLC1A5', 'score': 13.26}, {'connected_gene': 'PRKD2', 'score': 11.48}, {'connected_gene': 'MIR320E', 'score': 11.18}, {'connected_gene': 'GNG8', 'score': 10.87}, {'connected_gene': 'TMEM160', 'score': 10.18}, {'connected_gene': 'ARHGAP35', 'score': 9.9}, {'connected_gene': 'PIR51442', 'score': 0.39}, {'connected_gene': 'ENSG00000275719', 'score': 0.34}, {'connected_gene': 'FKRP', 'score': 0.34}]
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	GH19I046979	46979144	46979875	0.69	[{'connected_gene': 'ARHGAP35', 'score': 11.54}, {'connected_gene': 'TMEM160', 'score': 11.1}, {'connected_gene': 'NPAS1', 'score': 5.69}, {'connected_gene': 'GC19P046965', 'score': 0.39}, {'connected_gene': 'PIR46184', 'score': 0.34}, {'connected_gene': 'GC19P047005', 'score': 0.34}]
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	GH19I046867	46867869	46869235	0.74	[{'connected_gene': 'ARHGAP35', 'score': 11.69}, {'connected_gene': 'TMEM160', 'score': 10.76}, {'connected_gene': 'SAE1', 'score': 9.7}, {'connected_gene': 'GC19M046858', 'score': 0.77}]
chr19	GH19I046980	46980949	46983193	0.96	[{'connected_gene': 'ARHGAP35', 'score': 16.93}, {'connected_gene': 'TMEM160', 'score': 11.1}, {'connected_gene': 'PIR46184', 'score': 0.37}, {'connected_gene': 'GC19P047005', 'score': 0.37}, {'connected_gene': 'GC19P046965', 'score': 0.37}]
chr19	GH19I046981	46979884	46980033	0.58	[{'connected_gene': 'ARHGAP35', 'score': 11.54}, {'connected_gene': 'TMEM160', 'score': 11.1}, {'connected_gene': 'GC19P046965', 'score': 0.39}, {'connected_gene': 'PIR46184', 'score': 0.34}, {'connected_gene': 'GC19P047005', 'score': 0.34}]
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	GH19I047154	47154596	47160209	1.11	[{'connected_gene': 'BBC3', 'score': 18.75}, {'connected_gene': 'CCDC9', 'score': 12.65}, {'connected_gene': 'SAE1', 'score': 12.14}, {'connected_gene': 'TMEM160', 'score': 11.17}, {'connected_gene': 'ZC3H4', 'score': 0.26}, {'connected_gene': 'MIR3190', 'score': 0.2}]
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	GH19I046768	46768279	46769596	0.54	[{'connected_gene': 'PRKD2', 'score': 22.48}, {'connected_gene': 'STRN4', 'score': 16.63}, {'connected_gene': 'MIR320E', 'score': 11.18}, {'connected_gene': 'GNG8', 'score': 10.87}, {'connected_gene': 'TMEM160', 'score': 10.18}, {'connected_gene': 'ARHGAP35', 'score': 9.91}, {'connected_gene': 'PIR51442', 'score': 0.39}, {'connected_gene': 'ENSG00000275719', 'score': 0.37}, {'connected_gene': 'SLC1A5', 'score': 0.37}, {'connected_gene': 'FKRP', 'score': 0.34}]
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	GH19I047034	47034854	47036894	1.5	[{'connected_gene': 'ZC3H4', 'score': 26.18}, {'connected_gene': 'BICRA', 'score': 15.37}, {'connected_gene': 'PNMA8A', 'score': 11.81}, {'connected_gene': 'SAE1', 'score': 11.61}, {'connected_gene': 'PPP5D1', 'score': 11.13}, {'connected_gene': 'ENSG00000268810', 'score': 9.72}, {'connected_gene': 'PIR57310', 'score': 0.39}, {'connected_gene': 'TMEM160', 'score': 0.39}, {'connected_gene': 'NPAS1', 'score': 0.37}]
chr19	GH19I047105	47105710	47114883	2.68	[{'connected_gene': 'ZC3H4', 'score': 618.89}, {'connected_gene': 'ENSG00000268810', 'score': 44.26}, {'connected_gene': 'BICRA', 'score': 32.41}, {'connected_gene': 'C5AR2', 'score': 32.07}, {'connected_gene': 'PRKD2', 'score': 25.22}, {'connected_gene': 'CCDC9', 'score': 25.19}, {'connected_gene': 'NOP53-AS1', 'score': 22.55}, {'connected_gene': 'SNORD23', 'score': 20.88}, {'connected_gene': 'ENSG00000268746', 'score': 20.42}, {'connected_gene': 'DHX34', 'score': 19.13}, {'connected_gene': 'EHD2', 'score': 13.25}, {'connected_gene': 'PNMA8A', 'score': 11.81}, {'connected_gene': 'TMEM160', 'score': 11.39}, {'connected_gene': 'PPP5D1', 'score': 11.12}, {'connected_gene': 'ENSG00000269124', 'score': 10.82}, {'connected_gene': 'C5AR1', 'score': 10.52}, {'connected_gene': 'INAFM1', 'score': 10.36}, {'connected_gene': 'NOP53', 'score': 10.1}, {'connected_gene': 'BBC3', 'score': 6.52}, {'connected_gene': 'NAPA', 'score': 6.5}, {'connected_gene': 'SAE1', 'score': 5.53}, {'connected_gene': 'STRN4', 'score': 1.59}, {'connected_gene': 'PTGIR', 'score': 1.47}, {'connected_gene': 'GC19P047078', 'score': 0.29}]
chr19	GH19I047209	47209123	47211688	1.37	[{'connected_gene': 'ZC3H4', 'score': 25.85}, {'connected_gene': 'ENSG00000268810', 'score': 13.95}, {'connected_gene': 'BBC3', 'score': 13.81}, {'connected_gene': 'CCDC9', 'score': 13.72}, {'connected_gene': 'NOP53-AS1', 'score': 13.17}, {'connected_gene': 'BICRA', 'score': 13.06}, {'connected_gene': 'STRN4', 'score': 11.81}, {'connected_gene': 'SAE1', 'score': 11.69}, {'connected_gene': 'LIG1', 'score': 11.25}, {'connected_gene': 'TMEM160', 'score': 11.07}, {'connected_gene': 'PRKD2', 'score': 10.56}, {'connected_gene': 'MIR3190', 'score': 0.37}]
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	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	GH19I047199	47199234	47200075	0.31	[{'connected_gene': 'SAE1', 'score': 11.61}, {'connected_gene': 'TMEM160', 'score': 10.78}, {'connected_gene': 'MIR3190', 'score': 0.31}, {'connected_gene': 'ZC3H4', 'score': 0.17}]
chr19	GH19I047058	47058363	47059453	0.81	[{'connected_gene': 'PIR44905', 'score': 0.44}, {'connected_gene': 'TMEM160', 'score': 0.39}]
chr19	GH19I047062	47062304	47062453	0.31	[{'connected_gene': 'PIR44905', 'score': 0.77}, {'connected_gene': 'TMEM160', 'score': 0.39}]
chr19	GH19I047019	47019189	47022729	1.33	[{'connected_gene': 'PIR57310', 'score': 550.77}, {'connected_gene': 'NPAS1', 'score': 550.77}, {'connected_gene': 'TMEM160', 'score': 11.73}, {'connected_gene': 'SAE1', 'score': 11.11}, {'connected_gene': 'ARHGAP35', 'score': 10.76}]
chr19	GH19I047032	47032303	47032452	0.67	[{'connected_gene': 'PIR57310', 'score': 0.39}, {'connected_gene': 'NPAS1', 'score': 0.39}, {'connected_gene': 'TMEM160', 'score': 0.37}]
chr19	GH19I047078	47078944	47080534	1.19	[{'connected_gene': 'GC19P047078', 'score': 550.77}, {'connected_gene': 'SAE1', 'score': 17.82}, {'connected_gene': 'ENSG00000268810', 'score': 15.44}, {'connected_gene': 'ZC3H4', 'score': 14.53}, {'connected_gene': 'TMEM160', 'score': 12.57}, {'connected_gene': 'BICRA', 'score': 10.87}, {'connected_gene': 'PPP5C', 'score': 10.14}, {'connected_gene': 'NAPA', 'score': 10.01}]