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
ENST00000354300	[[110969119, 110974900], [110975948, 110976078], [110977626, 110977750], [110983684, 110983883], [110989593, 110989773], [111020613, 111021125]]	[[110974841, 110974900], [110975948, 110976078], [110977626, 110977750], [110983684, 110983883], [110989593, 110989773], [111020613, 111020836]]
ENST00000548721	[[110974573, 110974900], [110975948, 110976078], [110977626, 110977750], [110983684, 110984574]]	None
NM_139283	[[110972236, 110974900], [110975948, 110976078], [110977626, 110977750], [110983684, 110983883], [110989593, 110989773], [111020613, 111021064]]	[[110974841, 110974900], [110975948, 110976078], [110977626, 110977750], [110983684, 110983883], [110989593, 110989773], [111020613, 111020836]]
NR_138550	[[110972236, 110974900], [110975948, 110976078], [110977626, 110977750], [110989593, 110989773], [111020613, 111021064]]	None

Promoter

Chrom	Start	End	Description
chr12	111021110	111021142	CAGE_peak_1_at_PPTC7_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I111055	111055754	111058628	1.9	[{'connected_gene': 'ADAM1A', 'score': 24.24}, {'connected_gene': 'ATXN2', 'score': 14.12}, {'connected_gene': 'CUX2', 'score': 13.8}, {'connected_gene': 'MAPKAPK5', 'score': 12.01}, {'connected_gene': 'BRAP', 'score': 11.69}, {'connected_gene': 'ATXN2-AS', 'score': 11.68}, {'connected_gene': 'PCNPP1', 'score': 10.64}, {'connected_gene': 'IFT81', 'score': 10.23}, {'connected_gene': 'MYL2', 'score': 9.81}, {'connected_gene': 'LINC01405', 'score': 8.8}, {'connected_gene': 'PPTC7', 'score': 5.74}, {'connected_gene': 'SH2B3', 'score': 2.45}, {'connected_gene': 'GC12M111175', 'score': 0.13}]
chr12	GH12I110539	110539766	110540187	0.49	[{'connected_gene': 'HVCN1', 'score': 10.94}, {'connected_gene': 'TCTN1', 'score': 10.78}, {'connected_gene': 'VPS29', 'score': 0.28}, {'connected_gene': 'PPTC7', 'score': 0.26}]
chr12	GH12I110542	110542495	110547449	1.33	[{'connected_gene': 'HVCN1', 'score': 10.95}, {'connected_gene': 'TCTN1', 'score': 10.48}, {'connected_gene': 'FAM216A', 'score': 9.33}, {'connected_gene': 'PPTC7', 'score': 0.28}, {'connected_gene': 'VPS29', 'score': 0.26}]
chr12	GH12I110548	110548449	110549545	0.51	[{'connected_gene': 'HVCN1', 'score': 10.95}, {'connected_gene': 'TCTN1', 'score': 10.48}, {'connected_gene': 'PPTC7', 'score': 0.29}, {'connected_gene': 'VPS29', 'score': 0.25}]
chr12	GH12I110657	110657713	110658073	0.42	[{'connected_gene': 'HVCN1', 'score': 16.48}, {'connected_gene': 'TCTN1', 'score': 13.55}, {'connected_gene': 'PPTC7', 'score': 1.72}, {'connected_gene': 'RN7SL387P', 'score': 0.29}]
chr12	GH12I110604	110604968	110606849	1.38	[{'connected_gene': 'HVCN1', 'score': 14.07}, {'connected_gene': 'ARPC3', 'score': 11.29}, {'connected_gene': 'PPTC7', 'score': 7.14}, {'connected_gene': 'TCTN1', 'score': 0.44}]
chr12	GH12I110533	110533236	110533240	0.38	[{'connected_gene': 'TCTN1', 'score': 10.32}, {'connected_gene': 'VPS29', 'score': 0.29}, {'connected_gene': 'PPTC7', 'score': 0.23}]
chr12	GH12I110537	110534347	110534874	0.2	[{'connected_gene': 'TCTN1', 'score': 10.5}, {'connected_gene': 'VPS29', 'score': 0.29}, {'connected_gene': 'PPTC7', 'score': 0.25}]
chr12	GH12I110531	110531490	110532531	1	[{'connected_gene': 'TCTN1', 'score': 10.98}, {'connected_gene': 'VPS29', 'score': 0.31}, {'connected_gene': 'RAD9B', 'score': 0.29}, {'connected_gene': 'PPTC7', 'score': 0.23}]
chr12	GH12I110534	110533653	110534345	0.85	[{'connected_gene': 'TCTN1', 'score': 10.32}, {'connected_gene': 'FAM216A', 'score': 9.23}, {'connected_gene': 'VPS29', 'score': 0.29}, {'connected_gene': 'PPTC7', 'score': 0.25}]
chr12	GH12I110602	110602001	110602495	1.06	[{'connected_gene': 'ATXN2', 'score': 15.3}, {'connected_gene': 'IFT81', 'score': 13.79}, {'connected_gene': 'FAM216A', 'score': 11.27}, {'connected_gene': 'GPN3', 'score': 11.27}, {'connected_gene': 'TCTN1', 'score': 0.39}, {'connected_gene': 'PPTC7', 'score': 0.37}]
chr12	GH12I110567	110567783	110568386	0.2	[{'connected_gene': 'GLTP', 'score': 12.83}, {'connected_gene': 'GPN3', 'score': 9.12}, {'connected_gene': 'PPTC7', 'score': 0.37}, {'connected_gene': 'VPS29', 'score': 0.2}]
chr12	GH12I110535	110535715	110536435	0.2	[{'connected_gene': 'GPN3', 'score': 11.15}, {'connected_gene': 'TCTN1', 'score': 10.5}, {'connected_gene': 'VPS29', 'score': 0.29}, {'connected_gene': 'PPTC7', 'score': 0.25}]
chr12	GH12I110599	110599401	110599800	0.51	[{'connected_gene': 'GPN3', 'score': 17.75}, {'connected_gene': 'FAM216A', 'score': 11.27}, {'connected_gene': 'TCTN1', 'score': 0.39}, {'connected_gene': 'PPTC7', 'score': 0.37}]
chr12	GH12I110555	110555052	110556898	1.06	[{'connected_gene': 'GPN3', 'score': 35.63}, {'connected_gene': 'PPTC7', 'score': 13.07}, {'connected_gene': 'TCTN1', 'score': 11.48}, {'connected_gene': 'FAM216A', 'score': 9.16}, {'connected_gene': 'VPS29', 'score': 0.23}]
chr12	GH12I110512	110512401	110512645	0.85	[{'connected_gene': 'GPN3', 'score': 36.66}, {'connected_gene': 'RAD9B', 'score': 0.39}, {'connected_gene': 'VPS29', 'score': 0.39}, {'connected_gene': 'PPTC7', 'score': 0.19}]
chr12	GH12I110266	110266076	110268285	1.58	[{'connected_gene': 'GPN3', 'score': 22.66}, {'connected_gene': 'RNU4-32P', 'score': 10.85}, {'connected_gene': 'IFT81', 'score': 10.76}, {'connected_gene': 'C12orf76', 'score': 10.74}, {'connected_gene': 'UBE3B', 'score': 9.81}, {'connected_gene': 'ATP2A2', 'score': 4.93}, {'connected_gene': 'PPTC7', 'score': 1.93}, {'connected_gene': 'GC12P110274', 'score': 0.44}, {'connected_gene': 'GC12P110258', 'score': 0.44}]
chr12	GH12I110600	110600201	110600800	1.16	[{'connected_gene': 'FAM216A', 'score': 11.27}, {'connected_gene': 'GPN3', 'score': 11.27}, {'connected_gene': 'TCTN1', 'score': 0.39}, {'connected_gene': 'PPTC7', 'score': 0.37}]
chr12	GH12I110574	110574052	110580300	1.71	[{'connected_gene': 'FAM216A', 'score': 22.74}, {'connected_gene': 'GPN3', 'score': 20.2}, {'connected_gene': 'ARPC3', 'score': 18.49}, {'connected_gene': 'TCTN1', 'score': 10.75}, {'connected_gene': 'GLTP', 'score': 9.78}, {'connected_gene': 'PPTC7', 'score': 5.72}, {'connected_gene': 'ATP2A2', 'score': 4.76}, {'connected_gene': 'VPS29', 'score': 0.18}]
chr12	GH12I110560	110560794	110561289	0.31	[{'connected_gene': 'FAM216A', 'score': 10.23}, {'connected_gene': 'PPTC7', 'score': 0.34}, {'connected_gene': 'VPS29', 'score': 0.22}]
chr12	GH12I110779	110779768	110781014	0.64	[{'connected_gene': 'FAM216A', 'score': 9.47}, {'connected_gene': 'PPTC7', 'score': 1.71}, {'connected_gene': 'ENSG00000279925', 'score': 0.28}, {'connected_gene': 'PIR49180', 'score': 0.25}]
chr12	GH12I110549	110549640	110550352	0.2	[{'connected_gene': 'PPTC7', 'score': 13.06}, {'connected_gene': 'TCTN1', 'score': 11.47}, {'connected_gene': 'HVCN1', 'score': 10.95}, {'connected_gene': 'VPS29', 'score': 0.25}]
chr12	GH12I110552	110552416	110552585	0.76	[{'connected_gene': 'PPTC7', 'score': 13.06}, {'connected_gene': 'TCTN1', 'score': 11.47}, {'connected_gene': 'VPS29', 'score': 0.23}]
chr12	GH12I110553	110552156	110552305	0.64	[{'connected_gene': 'PPTC7', 'score': 13.06}, {'connected_gene': 'TCTN1', 'score': 11.47}, {'connected_gene': 'VPS29', 'score': 0.23}]
chr12	GH12I110550	110550390	110550776	0.2	[{'connected_gene': 'PPTC7', 'score': 13.06}, {'connected_gene': 'TCTN1', 'score': 11.47}, {'connected_gene': 'ARPC3', 'score': 5.22}, {'connected_gene': 'VPS29', 'score': 0.25}]
chr12	GH12I110580	110580896	110586245	2.47	[{'connected_gene': 'PPTC7', 'score': 554.27}, {'connected_gene': 'MYL2', 'score': 15.38}, {'connected_gene': 'FAM216A', 'score': 12.43}, {'connected_gene': 'ATP2A2', 'score': 11.6}, {'connected_gene': 'GPN3', 'score': 8.95}, {'connected_gene': 'GLTP', 'score': 4.23}, {'connected_gene': 'ARPC3', 'score': 1.57}, {'connected_gene': 'TCTN1', 'score': 0.29}]
chr12	GH12I109687	109686176	109686325	0.74	[{'connected_gene': 'PPTC7', 'score': 5.06}, {'connected_gene': 'RN7SKP250', 'score': 0.34}, {'connected_gene': 'GC12M109663', 'score': 0.34}, {'connected_gene': 'FAM222A', 'score': 0.31}]
chr12	GH12I110781	110781727	110781911	0.46	[{'connected_gene': 'PPTC7', 'score': 1.48}, {'connected_gene': 'ENSG00000279925', 'score': 0.28}, {'connected_gene': 'PIR49180', 'score': 0.25}]
chr12	GH12I110589	110589506	110592895	1.66	[{'connected_gene': 'ARPC3', 'score': 11.77}, {'connected_gene': 'TCTN1', 'score': 11.64}, {'connected_gene': 'PPTC7', 'score': 10.49}, {'connected_gene': 'FAM216A', 'score': 9.77}, {'connected_gene': 'HVCN1', 'score': 2.05}]
chr12	GH12I110536	110536526	110539515	1.24	[{'connected_gene': 'ARPC3', 'score': 23.64}, {'connected_gene': 'GLTP', 'score': 9.61}, {'connected_gene': 'GPN3', 'score': 9.27}, {'connected_gene': 'VPS29', 'score': 0.28}, {'connected_gene': 'PPTC7', 'score': 0.25}]
chr12	GH12I110561	110561402	110567709	1.25	[{'connected_gene': 'ARPC3', 'score': 12.98}, {'connected_gene': 'FAM216A', 'score': 12.18}, {'connected_gene': 'GLTP', 'score': 9.8}, {'connected_gene': 'PPTC7', 'score': 0.37}, {'connected_gene': 'VPS29', 'score': 0.21}]
chr12	GH12I110569	110569391	110570153	0.2	[{'connected_gene': 'ARPC3', 'score': 19.29}, {'connected_gene': 'FAM216A', 'score': 8.9}, {'connected_gene': 'PPTC7', 'score': 0.39}, {'connected_gene': 'VPS29', 'score': 0.2}]
chr12	GH12I110568	110568477	110569248	0.2	[{'connected_gene': 'ARPC3', 'score': 4.28}, {'connected_gene': 'PPTC7', 'score': 0.39}, {'connected_gene': 'VPS29', 'score': 0.2}]
chr12	GH12I110256	110256027	110258084	1.39	[{'connected_gene': 'GC12P110258', 'score': 550.77}, {'connected_gene': 'PPTC7', 'score': 3.25}, {'connected_gene': 'ARPC3', 'score': 2.51}, {'connected_gene': 'GC12P110252', 'score': 0.77}]