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
ENST00000367630	[[142468366, 142468536], [142487364, 142487459], [142490686, 142490814], [142491482, 142491558], [142510562, 142510671], [142519575, 142519752], [142525121, 142525202], [142539634, 142545826]]	[[142468424, 142468536], [142487364, 142487459], [142490686, 142490814], [142491482, 142491558], [142510562, 142510671], [142519575, 142519752], [142525121, 142525202], [142539634, 142539780]]
ENST00000367621	[[142468393, 142468536], [142490686, 142490814], [142491482, 142491558], [142510562, 142510671], [142519575, 142519752], [142525121, 142525202], [142539634, 142540204]]	[[142468503, 142468536], [142490686, 142490814], [142491482, 142491558], [142510562, 142510671], [142519575, 142519752], [142525121, 142525202], [142539634, 142539780]]
ENST00000452973	[[142468397, 142468536], [142490686, 142490814], [142491482, 142491558], [142510562, 142510671], [142519575, 142519752], [142539634, 142540388]]	[[142468503, 142468536], [142490686, 142490814], [142491482, 142491558], [142510562, 142510671], [142519575, 142519752], [142539634, 142539780]]
ENST00000491881	[[142491482, 142491558], [142510562, 142510671], [142519575, 142519918]]	None
NM_001286372	[[142468298, 142468536], [142490686, 142490814], [142491482, 142491558], [142510562, 142510671], [142519575, 142519752], [142539634, 142542085]]	[[142468503, 142468536], [142490686, 142490814], [142491482, 142491558], [142510562, 142510671], [142519575, 142519752], [142539634, 142539780]]
NM_001286371	[[142468298, 142468536], [142487364, 142487459], [142490686, 142490814], [142491482, 142491558], [142510562, 142510671], [142519575, 142519752], [142539634, 142542085]]	[[142468424, 142468536], [142487364, 142487459], [142490686, 142490814], [142491482, 142491558], [142510562, 142510671], [142519575, 142519752], [142539634, 142539780]]
NM_016485	[[142468298, 142468536], [142487364, 142487459], [142490686, 142490814], [142491482, 142491558], [142510562, 142510671], [142519575, 142519752], [142525121, 142525202], [142539634, 142542085]]	[[142468424, 142468536], [142487364, 142487459], [142490686, 142490814], [142491482, 142491558], [142510562, 142510671], [142519575, 142519752], [142525121, 142525202], [142539634, 142539780]]

Promoter

Chrom	Start	End	Description
chr6	142468361	142468382	CAGE_peak_2_at_VTA1_5end
chr6	142468383	142468421	CAGE_peak_1_at_VTA1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr22	GH22I031645	31645223	31649279	1.61	[{'connected_gene': 'SFI1', 'score': 11.06}, {'connected_gene': 'EIF4ENIF1', 'score': 10.65}, {'connected_gene': 'ENSG00000240591', 'score': 10.19}, {'connected_gene': 'DRG1', 'score': 10.07}, {'connected_gene': 'PISD', 'score': 7.64}, {'connected_gene': 'RNF185', 'score': 6.79}, {'connected_gene': 'PIK3IP1', 'score': 6.04}, {'connected_gene': 'LIMK2', 'score': 1.14}, {'connected_gene': 'MIR7109', 'score': 0.31}]
chr22	GH22I031488	31488139	31492581	2.06	[{'connected_gene': 'SFI1', 'score': 565.37}, {'connected_gene': 'EIF4ENIF1', 'score': 550.44}, {'connected_gene': 'DRG1', 'score': 0.16}]
chr22	GH22I031493	31493377	31498020	2.21	[{'connected_gene': 'SFI1', 'score': 567.31}, {'connected_gene': 'EIF4ENIF1', 'score': 550.77}, {'connected_gene': 'PIK3IP1', 'score': 5.96}, {'connected_gene': 'PISD', 'score': 4.7}, {'connected_gene': 'DRG1', 'score': 0.15}]
chr22	GH22I031328	31328856	31329844	0.58	[{'connected_gene': 'SFI1', 'score': 13.7}, {'connected_gene': 'DRG1', 'score': 10.59}, {'connected_gene': 'RNU6-1128P', 'score': 10.04}, {'connected_gene': 'SELENOM', 'score': 9.54}, {'connected_gene': 'INPP5J', 'score': 9.53}, {'connected_gene': 'PIK3IP1', 'score': 5.85}, {'connected_gene': 'PIR41427', 'score': 0.44}, {'connected_gene': 'PATZ1', 'score': 0.37}, {'connected_gene': 'GC22M031305', 'score': 0.34}, {'connected_gene': 'PIK3IP1-AS1', 'score': 0.28}]
chr22	GH22I031529	31529659	31533394	1	[{'connected_gene': 'SFI1', 'score': 6.71}, {'connected_gene': 'PISD', 'score': 5.7}, {'connected_gene': 'PIK3IP1', 'score': 5.39}, {'connected_gene': 'ENSG00000229169', 'score': 0.44}, {'connected_gene': 'H2AFZP6', 'score': 0.44}, {'connected_gene': 'DRG1', 'score': 0.12}]
chr22	GH22I031447	31447866	31448675	0.2	[{'connected_gene': 'SFI1', 'score': 15.19}, {'connected_gene': 'PIK3IP1', 'score': 5.88}, {'connected_gene': 'ENSG00000240591', 'score': 0.44}, {'connected_gene': 'GC22P031435', 'score': 0.39}, {'connected_gene': 'EIF4ENIF1', 'score': 0.25}, {'connected_gene': 'DRG1', 'score': 0.25}]
chr6	GH06I142388	142388201	142388600	1.16	[{'connected_gene': 'ADGRG6', 'score': 15.76}, {'connected_gene': 'VTA1', 'score': 10.75}, {'connected_gene': 'GC06M142363', 'score': 0.34}, {'connected_gene': 'LOC153910', 'score': 0.07}]
chr6	GH06I142380	142380283	142383885	0.72	[{'connected_gene': 'ADGRG6', 'score': 18.71}, {'connected_gene': 'VTA1', 'score': 10.99}, {'connected_gene': 'GC06M142363', 'score': 0.37}, {'connected_gene': 'LOC153910', 'score': 0.07}]
chr6	GH06I142399	142399749	142402464	1.27	[{'connected_gene': 'ADGRG6', 'score': 14.97}, {'connected_gene': 'VTA1', 'score': 10.06}, {'connected_gene': 'GC06M142363', 'score': 0.28}, {'connected_gene': 'LOC153910', 'score': 0.07}]
chr6	GH06I142395	142395224	142396388	0.88	[{'connected_gene': 'ADGRG6', 'score': 10.58}, {'connected_gene': 'VTA1', 'score': 10.06}, {'connected_gene': 'GC06M142363', 'score': 0.29}, {'connected_gene': 'LOC153910', 'score': 0.07}]
chr6	GH06I142389	142389010	142389837	0.2	[{'connected_gene': 'ADGRG6', 'score': 11.34}, {'connected_gene': 'VTA1', 'score': 10.84}, {'connected_gene': 'GC06M142363', 'score': 0.34}, {'connected_gene': 'LOC153910', 'score': 0.07}]
chr6	GH06I142235	142235217	142236771	0.31	[{'connected_gene': 'ADGRG6', 'score': 11.3}, {'connected_gene': 'VTA1', 'score': 10.73}, {'connected_gene': 'GC06P142232', 'score': 0.77}, {'connected_gene': 'GC06P142257', 'score': 0.34}]
chr6	GH06I142236	142236784	142236933	0.2	[{'connected_gene': 'ADGRG6', 'score': 11.3}, {'connected_gene': 'VTA1', 'score': 10.73}, {'connected_gene': 'GC06P142232', 'score': 0.77}, {'connected_gene': 'GC06P142257', 'score': 0.34}]
chr6	GH06I142187	142187384	142187533	0.76	[{'connected_gene': 'ADGRG6', 'score': 10.0}, {'connected_gene': 'GC06P142170', 'score': 0.37}, {'connected_gene': 'VTA1', 'score': 0.26}, {'connected_gene': 'GC06P142232', 'score': 0.26}]
chr22	GH22I031504	31504435	31504584	0.2	[{'connected_gene': 'EIF4ENIF1', 'score': 0.44}, {'connected_gene': 'H2AFZP6', 'score': 0.37}, {'connected_gene': 'SFI1', 'score': 0.37}, {'connected_gene': 'DRG1', 'score': 0.15}]
chr22	GH22I031350	31350595	31350744	0.8	[{'connected_gene': 'DRG1', 'score': 10.96}, {'connected_gene': 'SFI1', 'score': 9.52}, {'connected_gene': 'LINC01521', 'score': 0.77}, {'connected_gene': 'RNU6-338P', 'score': 0.28}, {'connected_gene': 'GC22M031389', 'score': 0.28}]
chr22	GH22I031397	31397814	31401144	2.04	[{'connected_gene': 'DRG1', 'score': 550.77}, {'connected_gene': 'SFI1', 'score': 11.19}, {'connected_gene': 'PATZ1', 'score': 11.17}, {'connected_gene': 'LINC01521', 'score': 11.17}, {'connected_gene': 'ENSG00000240591', 'score': 10.75}, {'connected_gene': 'EIF4ENIF1', 'score': 10.67}, {'connected_gene': 'PIK3IP1', 'score': 5.04}, {'connected_gene': 'PIR44980', 'score': 0.77}]
chr22	GH22I031337	31337125	31337887	0.38	[{'connected_gene': 'DRG1', 'score': 10.87}, {'connected_gene': 'PIR42273', 'score': 0.77}, {'connected_gene': 'PIR41427', 'score': 0.77}, {'connected_gene': 'PATZ1', 'score': 0.44}, {'connected_gene': 'PIK3IP1-AS1', 'score': 0.25}]
chr22	GH22I031339	31339189	31339984	0.99	[{'connected_gene': 'DRG1', 'score': 10.88}, {'connected_gene': 'PIR42273', 'score': 0.77}, {'connected_gene': 'PIR41427', 'score': 0.77}, {'connected_gene': 'PATZ1', 'score': 0.44}]
chr6	GH06I141969	141969365	141969458	0.49	[{'connected_gene': 'VTA1', 'score': 1.33}, {'connected_gene': 'GC06P141986', 'score': 0.37}, {'connected_gene': 'GC06M141923', 'score': 0.26}, {'connected_gene': 'LOC105378031', 'score': 0.21}]
chr6	GH06I141770	141770154	141770362	0.22	[{'connected_gene': 'VTA1', 'score': 1.48}, {'connected_gene': 'LOC105378030', 'score': 0.31}, {'connected_gene': 'GC06M141661', 'score': 0.14}, {'connected_gene': 'GC06M141662', 'score': 0.14}]
chr6	GH06I142207	142207484	142207673	0.69	[{'connected_gene': 'VTA1', 'score': 11.45}, {'connected_gene': 'GC06P142232', 'score': 0.34}, {'connected_gene': 'GC06P142170', 'score': 0.28}]
chr6	GH06I142155	142155154	142156734	0.79	[{'connected_gene': 'NMBR', 'score': 10.34}, {'connected_gene': 'VTA1', 'score': 0.44}, {'connected_gene': 'GC06P142170', 'score': 0.39}]
chr6	GH06I142146	142146318	142148285	2.12	[{'connected_gene': 'NMBR', 'score': 560.68}, {'connected_gene': 'VTA1', 'score': 550.77}, {'connected_gene': 'GC06P142170', 'score': 0.34}]
chr22	GH22I031649	31649753	31654851	1.16	[{'connected_gene': 'PRR14L', 'score': 10.94}, {'connected_gene': 'DEPDC5', 'score': 10.93}, {'connected_gene': 'EIF4ENIF1', 'score': 10.65}, {'connected_gene': 'ENSG00000240591', 'score': 10.19}, {'connected_gene': 'DRG1', 'score': 10.07}, {'connected_gene': 'SFI1', 'score': 8.52}, {'connected_gene': 'PIK3IP1', 'score': 7.45}, {'connected_gene': 'PISD', 'score': 0.39}, {'connected_gene': 'MIR7109', 'score': 0.29}]
chr22	GH22I031458	31458931	31458947	0.23	[{'connected_gene': 'RNU6-28P', 'score': 11.8}, {'connected_gene': 'SFI1', 'score': 11.77}, {'connected_gene': 'EIF4ENIF1', 'score': 11.73}, {'connected_gene': 'ENSG00000240591', 'score': 0.77}, {'connected_gene': 'GC22M031482', 'score': 0.34}, {'connected_gene': 'DRG1', 'score': 0.22}]
chr22	GH22I031477	31477086	31478328	0.54	[{'connected_gene': 'GC22M031482', 'score': 550.77}, {'connected_gene': 'RNU6-28P', 'score': 550.77}, {'connected_gene': 'SFI1', 'score': 14.11}, {'connected_gene': 'PIK3IP1', 'score': 4.15}, {'connected_gene': 'EIF4ENIF1', 'score': 0.37}, {'connected_gene': 'ENSG00000240591', 'score': 0.34}, {'connected_gene': 'DRG1', 'score': 0.18}]
chr22	GH22I031474	31474835	31475004	0.2	[{'connected_gene': 'GC22M031482', 'score': 0.77}, {'connected_gene': 'RNU6-28P', 'score': 0.77}, {'connected_gene': 'EIF4ENIF1', 'score': 0.34}, {'connected_gene': 'ENSG00000240591', 'score': 0.34}, {'connected_gene': 'DRG1', 'score': 0.18}]