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
ENST00000314045	[[113594978, 113596917], [113599074, 113599187], [113599697, 113599802], [113600736, 113600850], [113600936, 113601079], [113601871, 113602090], [113603448, 113603522], [113603606, 113603837], [113607574, 113607709], [113610157, 113610368], [113612444, 113612576], [113612679, 113612741], [113612840, 113612962], [113614644, 113614740], [113614856, 113614898], [113616781, 113616831], [113616947, 113617136], [113617739, 113617810], [113618733, 113618863], [113623082, 113623284]]	[[113596681, 113596917], [113599074, 113599187], [113599697, 113599802], [113600736, 113600850], [113600936, 113601079], [113601871, 113602090], [113603448, 113603522], [113603606, 113603837], [113607574, 113607709], [113610157, 113610368], [113612444, 113612576], [113612679, 113612741], [113612840, 113612962], [113614644, 113614740], [113614856, 113614898], [113616781, 113616831], [113616947, 113617136], [113617739, 113617810], [113618733, 113618863], [113623082, 113623256]]
ENST00000306014	[[113594978, 113596914], [113599074, 113599187], [113599697, 113599802], [113600736, 113600850], [113600936, 113601079], [113601871, 113602090], [113603448, 113603522], [113603606, 113603837], [113607574, 113607709], [113610157, 113610368], [113612444, 113612576], [113612679, 113612741], [113612840, 113612962], [113614644, 113614740], [113614856, 113614898], [113616781, 113616831], [113616947, 113617136], [113617739, 113617810], [113618733, 113618863], [113623082, 113623284]]	[[113596681, 113596914], [113599074, 113599187], [113599697, 113599802], [113600736, 113600850], [113600936, 113601079], [113601871, 113602090], [113603448, 113603522], [113603606, 113603837], [113607574, 113607709], [113610157, 113610368], [113612444, 113612576], [113612679, 113612741], [113612840, 113612962], [113614644, 113614740], [113614856, 113614898], [113616781, 113616831], [113616947, 113617136], [113617739, 113617810], [113618733, 113618863], [113623082, 113623256]]
ENST00000549271	[[113596379, 113596914], [113599074, 113599295]]	None
ENST00000551912	[[113596646, 113596917], [113599074, 113599261]]	None
ENST00000546898	[[113599725, 113599802], [113600736, 113600850], [113600936, 113601079], [113603448, 113603522], [113603606, 113603677]]	[[113599725, 113599802], [113600736, 113600850], [113600936, 113601079], [113603448, 113603522], [113603606, 113603677]]
ENST00000550016	[[113599755, 113599802], [113600700, 113600850], [113600936, 113601079], [113601871, 113602090], [113603448, 113603483]]	None
ENST00000548786	[[113600522, 113600850], [113600936, 113601079], [113601871, 113601898]]	None
ENST00000551344	[[113612680, 113612741], [113612840, 113612962], [113614644, 113614740], [113614856, 113614898], [113616781, 113616831], [113616947, 113617136], [113617739, 113617810], [113618785, 113618863], [113623082, 113623245]]	[[113617804, 113617810], [113618785, 113618863], [113623082, 113623245]]
ENST00000552375	[[113612840, 113612962], [113614644, 113614740], [113614856, 113614898], [113616781, 113616831], [113616947, 113617136], [113617739, 113617810], [113618733, 113618863], [113621527, 113621607]]	[[113612840, 113612962], [113614644, 113614740], [113614856, 113614898], [113616781, 113616831], [113616947, 113617136], [113617739, 113617810], [113618733, 113618788]]
ENST00000546869	[[113614632, 113614740], [113614856, 113615168]]	None
NM_001111322	[[113594977, 113596917], [113599074, 113599187], [113599697, 113599802], [113600736, 113600850], [113600936, 113601079], [113601871, 113602090], [113603448, 113603522], [113603606, 113603837], [113607574, 113607709], [113610157, 113610368], [113612444, 113612576], [113612679, 113612741], [113612840, 113612962], [113614644, 113614740], [113614856, 113614898], [113616781, 113616831], [113616947, 113617136], [113617739, 113617810], [113618733, 113618863], [113623082, 113623284]]	[[113596681, 113596917], [113599074, 113599187], [113599697, 113599802], [113600736, 113600850], [113600936, 113601079], [113601871, 113602090], [113603448, 113603522], [113603606, 113603837], [113607574, 113607709], [113610157, 113610368], [113612444, 113612576], [113612679, 113612741], [113612840, 113612962], [113614644, 113614740], [113614856, 113614898], [113616781, 113616831], [113616947, 113617136], [113617739, 113617810], [113618733, 113618863], [113623082, 113623256]]
NM_024072	[[113594977, 113596914], [113599074, 113599187], [113599697, 113599802], [113600736, 113600850], [113600936, 113601079], [113601871, 113602090], [113603448, 113603522], [113603606, 113603837], [113607574, 113607709], [113610157, 113610368], [113612444, 113612576], [113612679, 113612741], [113612840, 113612962], [113614644, 113614740], [113614856, 113614898], [113616781, 113616831], [113616947, 113617136], [113617739, 113617810], [113618733, 113618863], [113623082, 113623284]]	[[113596681, 113596914], [113599074, 113599187], [113599697, 113599802], [113600736, 113600850], [113600936, 113601079], [113601871, 113602090], [113603448, 113603522], [113603606, 113603837], [113607574, 113607709], [113610157, 113610368], [113612444, 113612576], [113612679, 113612741], [113612840, 113612962], [113614644, 113614740], [113614856, 113614898], [113616781, 113616831], [113616947, 113617136], [113617739, 113617810], [113618733, 113618863], [113623082, 113623256]]

Promoter

Chrom	Start	End	Description
chr12	113599241	113599257	CAGE_peak_2_at_DDX54_5end
chr12	113599258	113599282	CAGE_peak_5_at_DDX54_5end
chr12	113599286	113599309	CAGE_peak_4_at_DDX54_5end
chr12	113623252	113623300	CAGE_peak_1_at_DDX54_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I113153	113152676	113152745	0.77	[{'connected_gene': 'RBM19', 'score': 12.15}, {'connected_gene': 'ENSG00000201208', 'score': 11.69}, {'connected_gene': 'DDX54', 'score': 11.67}, {'connected_gene': 'RITA1', 'score': 11.67}, {'connected_gene': 'CFAP73', 'score': 0.77}, {'connected_gene': 'ENSG00000199899', 'score': 0.77}, {'connected_gene': 'GC12M113158', 'score': 0.77}]
chr12	GH12I113152	113152856	113153525	1.62	[{'connected_gene': 'RBM19', 'score': 12.9}, {'connected_gene': 'ENSG00000201208', 'score': 11.69}, {'connected_gene': 'DDX54', 'score': 11.67}, {'connected_gene': 'RITA1', 'score': 11.67}, {'connected_gene': 'CFAP73', 'score': 0.77}, {'connected_gene': 'ENSG00000199899', 'score': 0.77}, {'connected_gene': 'GC12M113158', 'score': 0.77}]
chr12	GH12I113303	113303016	113303185	0.66	[{'connected_gene': 'RBM19', 'score': 20.53}, {'connected_gene': 'DDX54', 'score': 9.92}, {'connected_gene': 'RASAL1', 'score': 8.13}, {'connected_gene': 'GC12P113300', 'score': 0.77}, {'connected_gene': 'GC12M113308', 'score': 0.39}, {'connected_gene': 'SLC8B1', 'score': 0.22}]
chr12	GH12I113127	113127566	113128817	0.87	[{'connected_gene': 'RBM19', 'score': 43.76}, {'connected_gene': 'DDX54', 'score': 18.36}, {'connected_gene': 'RPL6', 'score': 13.71}, {'connected_gene': 'RASAL1', 'score': 12.13}, {'connected_gene': 'SLC8B1', 'score': 12.05}, {'connected_gene': 'GC12P113070', 'score': 0.22}]
chr12	GH12I113226	113226199	113234312	1.73	[{'connected_gene': 'RITA1', 'score': 24.24}, {'connected_gene': 'RBM19', 'score': 12.15}, {'connected_gene': 'DDX54', 'score': 11.55}, {'connected_gene': 'ENSG00000201208', 'score': 11.52}, {'connected_gene': 'IQCD', 'score': 2.8}, {'connected_gene': 'TPCN1', 'score': 2.65}, {'connected_gene': 'DTX1', 'score': 1.39}, {'connected_gene': 'ENSG00000277566', 'score': 0.37}]
chr12	GH12I113251	113251528	113252814	0.51	[{'connected_gene': 'RITA1', 'score': 21.84}, {'connected_gene': 'RASAL1', 'score': 13.26}, {'connected_gene': 'IQCD', 'score': 11.99}, {'connected_gene': 'TPCN1', 'score': 11.99}, {'connected_gene': 'DDX54', 'score': 11.2}, {'connected_gene': 'ENSG00000201208', 'score': 11.19}, {'connected_gene': 'PLBD2', 'score': 10.65}, {'connected_gene': 'ENSG00000277566', 'score': 0.77}, {'connected_gene': 'GC12M113256', 'score': 0.37}]
chr12	GH12I113235	113235709	113249082	1.44	[{'connected_gene': 'RITA1', 'score': 24.37}, {'connected_gene': 'RASAL1', 'score': 13.27}, {'connected_gene': 'IQCD', 'score': 12.04}, {'connected_gene': 'TPCN1', 'score': 12.04}, {'connected_gene': 'DDX54', 'score': 11.5}, {'connected_gene': 'ENSG00000201208', 'score': 11.49}, {'connected_gene': 'PLBD2', 'score': 11.07}, {'connected_gene': 'ENSG00000277566', 'score': 0.44}]
chr12	GH12I113258	113258478	113261000	1.2	[{'connected_gene': 'RITA1', 'score': 21.96}, {'connected_gene': 'DDX54', 'score': 11.32}, {'connected_gene': 'ENSG00000201208', 'score': 11.3}, {'connected_gene': 'GC12M113256', 'score': 0.39}, {'connected_gene': 'ENSG00000277566', 'score': 0.39}, {'connected_gene': 'TPCN1', 'score': 0.28}]
chr12	GH12I113183	113183796	113187512	2.09	[{'connected_gene': 'RITA1', 'score': 563.38}, {'connected_gene': 'DDX54', 'score': 560.78}, {'connected_gene': 'HECTD4', 'score': 26.35}, {'connected_gene': 'RBM19', 'score': 23.1}, {'connected_gene': 'RPL6', 'score': 13.7}, {'connected_gene': 'SLC8B1', 'score': 12.07}, {'connected_gene': 'CFAP73', 'score': 11.1}, {'connected_gene': 'DYNLL1P4', 'score': 10.28}, {'connected_gene': 'GC12M113186', 'score': 0.77}, {'connected_gene': 'ENSG00000257286', 'score': 0.44}]
chr12	GH12I113161	113161576	113161745	0.56	[{'connected_gene': 'RITA1', 'score': 13.97}, {'connected_gene': 'DTX1', 'score': 10.84}, {'connected_gene': 'MIR7106', 'score': 0.77}, {'connected_gene': 'GC12M113179', 'score': 0.37}, {'connected_gene': 'ENSG00000201208', 'score': 0.37}, {'connected_gene': 'DDX54', 'score': 0.34}]
chr12	GH12I113172	113172675	113174405	0.7	[{'connected_gene': 'RITA1', 'score': 11.36}, {'connected_gene': 'GC12M113179', 'score': 0.77}, {'connected_gene': 'ENSG00000201208', 'score': 0.77}, {'connected_gene': 'MIR7106', 'score': 0.39}, {'connected_gene': 'DDX54', 'score': 0.39}]
chr12	GH12I113253	113253199	113254421	0.2	[{'connected_gene': 'DDX54', 'score': 11.33}, {'connected_gene': 'RITA1', 'score': 11.33}, {'connected_gene': 'ENSG00000201208', 'score': 11.31}, {'connected_gene': 'ENSG00000277566', 'score': 0.77}, {'connected_gene': 'GC12M113256', 'score': 0.37}, {'connected_gene': 'TPCN1', 'score': 0.29}]
chr12	GH12I113262	113261003	113261415	0.4	[{'connected_gene': 'DDX54', 'score': 11.31}, {'connected_gene': 'RITA1', 'score': 11.31}, {'connected_gene': 'ENSG00000201208', 'score': 11.3}, {'connected_gene': 'GC12M113256', 'score': 0.39}, {'connected_gene': 'ENSG00000277566', 'score': 0.39}, {'connected_gene': 'TPCN1', 'score': 0.26}]
chr12	GH12I113220	113220237	113224478	2.53	[{'connected_gene': 'TPCN1', 'score': 552.58}, {'connected_gene': 'IQCD', 'score': 550.77}, {'connected_gene': 'RITA1', 'score': 24.18}, {'connected_gene': 'RASAL1', 'score': 13.18}, {'connected_gene': 'DDX54', 'score': 11.55}, {'connected_gene': 'ENSG00000201208', 'score': 11.54}, {'connected_gene': 'RBM19', 'score': 10.47}, {'connected_gene': 'ENSG00000277566', 'score': 0.31}]
chr12	GH12I113149	113149210	113150320	1.55	[{'connected_gene': 'CFAP73', 'score': 550.77}, {'connected_gene': 'RASAL1', 'score': 16.44}, {'connected_gene': 'ENSG00000201208', 'score': 11.69}, {'connected_gene': 'DDX54', 'score': 11.66}, {'connected_gene': 'RITA1', 'score': 11.66}, {'connected_gene': 'ENSG00000199899', 'score': 0.44}, {'connected_gene': 'GC12M113158', 'score': 0.44}]
chr12	GH12I113356	113356590	113360621	2.24	[{'connected_gene': 'PLBD2', 'score': 579.24}, {'connected_gene': 'SLC8B1', 'score': 558.54}, {'connected_gene': 'RBM19', 'score': 26.3}, {'connected_gene': 'SDSL', 'score': 20.86}, {'connected_gene': 'RITA1', 'score': 10.66}, {'connected_gene': 'DDX54', 'score': 10.66}, {'connected_gene': 'ENSG00000201208', 'score': 10.65}, {'connected_gene': 'RPL6', 'score': 10.13}, {'connected_gene': 'SDS', 'score': 1.43}, {'connected_gene': 'LOC105369989', 'score': 0.77}]
chr12	GH12I113097	113097816	113097965	0.66	[{'connected_gene': 'DTX1', 'score': 12.31}, {'connected_gene': 'ENSG00000201208', 'score': 11.21}, {'connected_gene': 'DDX54', 'score': 11.2}, {'connected_gene': 'RITA1', 'score': 11.2}, {'connected_gene': 'GC12P113070', 'score': 0.31}, {'connected_gene': 'RASAL1', 'score': 0.28}]
chr12	GH12I113098	113098139	113099105	1.31	[{'connected_gene': 'DTX1', 'score': 12.31}, {'connected_gene': 'ENSG00000201208', 'score': 11.22}, {'connected_gene': 'DDX54', 'score': 11.2}, {'connected_gene': 'RITA1', 'score': 11.2}, {'connected_gene': 'RASAL1', 'score': 6.76}, {'connected_gene': 'GC12P113070', 'score': 0.31}]
chr12	GH12I113094	113094345	113096076	0.49	[{'connected_gene': 'DTX1', 'score': 12.33}, {'connected_gene': 'ENSG00000201208', 'score': 11.21}, {'connected_gene': 'DDX54', 'score': 11.19}, {'connected_gene': 'RITA1', 'score': 11.19}, {'connected_gene': 'RASAL1', 'score': 6.94}, {'connected_gene': 'GC12P113070', 'score': 0.34}]
chr12	GH12I113089	113089028	113090786	0.92	[{'connected_gene': 'DTX1', 'score': 12.97}, {'connected_gene': 'ENSG00000201208', 'score': 11.66}, {'connected_gene': 'DDX54', 'score': 11.65}, {'connected_gene': 'RITA1', 'score': 11.65}, {'connected_gene': 'CFAP73', 'score': 11.5}, {'connected_gene': 'RASAL1', 'score': 7.52}, {'connected_gene': 'GC12P113070', 'score': 0.37}]
chr12	GH12I113074	113074387	113076211	1.21	[{'connected_gene': 'DTX1', 'score': 8.67}, {'connected_gene': 'DDX54', 'score': 1.4}, {'connected_gene': 'GC12P113070', 'score': 0.44}, {'connected_gene': 'RASAL1', 'score': 0.21}]
chr12	GH12I113031	113031076	113031205	0.72	[{'connected_gene': 'DTX1', 'score': 11.89}, {'connected_gene': 'OAS1', 'score': 11.69}, {'connected_gene': 'ENSG00000201208', 'score': 11.12}, {'connected_gene': 'DDX54', 'score': 11.11}, {'connected_gene': 'RITA1', 'score': 11.11}, {'connected_gene': 'CFAP73', 'score': 11.08}, {'connected_gene': 'OAS3', 'score': 11.0}, {'connected_gene': 'ENSG00000257452', 'score': 0.39}, {'connected_gene': 'RPS15AP32', 'score': 0.34}]
chr12	GH12I113092	113092706	113094327	1.11	[{'connected_gene': 'DTX1', 'score': 12.33}, {'connected_gene': 'CFAP73', 'score': 11.88}, {'connected_gene': 'ENSG00000201208', 'score': 11.2}, {'connected_gene': 'DDX54', 'score': 11.19}, {'connected_gene': 'RITA1', 'score': 11.19}, {'connected_gene': 'RASAL1', 'score': 7.2}, {'connected_gene': 'GC12P113070', 'score': 0.34}]
chr12	GH12I113162	113162236	113162385	0.66	[{'connected_gene': 'DTX1', 'score': 10.83}, {'connected_gene': 'MIR7106', 'score': 0.77}, {'connected_gene': 'GC12M113179', 'score': 0.37}, {'connected_gene': 'ENSG00000201208', 'score': 0.37}, {'connected_gene': 'DDX54', 'score': 0.34}]
chr12	GH12I113039	113039973	113041603	1.12	[{'connected_gene': 'ENSG00000201208', 'score': 11.35}, {'connected_gene': 'RITA1', 'score': 11.34}, {'connected_gene': 'DDX54', 'score': 11.34}, {'connected_gene': 'OAS3', 'score': 5.52}, {'connected_gene': 'ENSG00000257452', 'score': 5.34}, {'connected_gene': 'SDSL', 'score': 4.95}, {'connected_gene': 'DTX1', 'score': 4.94}, {'connected_gene': 'SLC8B1', 'score': 2.98}, {'connected_gene': 'OAS2', 'score': 2.54}, {'connected_gene': 'OAS1', 'score': 1.3}, {'connected_gene': 'RPS15AP32', 'score': 0.39}]
chr12	GH12I113069	113069404	113072264	1.56	[{'connected_gene': 'GC12P113070', 'score': 550.77}, {'connected_gene': 'ENSG00000201208', 'score': 11.58}, {'connected_gene': 'RITA1', 'score': 11.57}, {'connected_gene': 'DDX54', 'score': 11.57}, {'connected_gene': 'CFAP73', 'score': 11.53}, {'connected_gene': 'DTX1', 'score': 7.53}, {'connected_gene': 'PLBD2', 'score': 5.45}, {'connected_gene': 'SDSL', 'score': 4.87}, {'connected_gene': 'RASAL1', 'score': 0.2}]
chr12	GH12I113062	113062141	113062864	1.09	[{'connected_gene': 'ENSG00000201208', 'score': 10.8}, {'connected_gene': 'DDX54', 'score': 10.8}, {'connected_gene': 'RITA1', 'score': 10.8}, {'connected_gene': 'OAS3', 'score': 4.24}, {'connected_gene': 'DTX1', 'score': 0.44}, {'connected_gene': 'GC12P113070', 'score': 0.44}]
chr12	GH12I113066	113066378	113067825	0.52	[{'connected_gene': 'ENSG00000201208', 'score': 11.57}, {'connected_gene': 'DDX54', 'score': 11.56}, {'connected_gene': 'RITA1', 'score': 11.56}, {'connected_gene': 'CFAP73', 'score': 11.52}, {'connected_gene': 'DTX1', 'score': 5.37}, {'connected_gene': 'GC12P113070', 'score': 0.77}]
chr12	GH12I113064	113064838	113066236	1.39	[{'connected_gene': 'ENSG00000201208', 'score': 11.57}, {'connected_gene': 'DDX54', 'score': 11.56}, {'connected_gene': 'RITA1', 'score': 11.56}, {'connected_gene': 'CFAP73', 'score': 11.52}, {'connected_gene': 'DTX1', 'score': 4.11}, {'connected_gene': 'GC12P113070', 'score': 0.77}]
chr12	GH12I113154	113154135	113155100	0.74	[{'connected_gene': 'ENSG00000201208', 'score': 11.72}, {'connected_gene': 'DDX54', 'score': 11.67}, {'connected_gene': 'RITA1', 'score': 11.67}, {'connected_gene': 'ENSG00000199899', 'score': 0.77}, {'connected_gene': 'GC12M113158', 'score': 0.77}, {'connected_gene': 'CFAP73', 'score': 0.44}]
chr12	GH12I113063	113062876	113063025	0.8	[{'connected_gene': 'ENSG00000201208', 'score': 10.8}, {'connected_gene': 'DDX54', 'score': 10.8}, {'connected_gene': 'RITA1', 'score': 10.8}, {'connected_gene': 'DTX1', 'score': 0.44}, {'connected_gene': 'GC12P113070', 'score': 0.44}]
chr12	GH12I113174	113174476	113174685	0.68	[{'connected_gene': 'GC12M113179', 'score': 0.77}, {'connected_gene': 'ENSG00000201208', 'score': 0.77}, {'connected_gene': 'DDX54', 'score': 0.39}, {'connected_gene': 'MIR7106', 'score': 0.37}]
chr12	GH12I112992	112992746	112993359	0.74	[{'connected_gene': 'GC12M112989', 'score': 550.77}, {'connected_gene': 'OAS3', 'score': 25.62}, {'connected_gene': 'ENSG00000201208', 'score': 10.35}, {'connected_gene': 'RITA1', 'score': 10.35}, {'connected_gene': 'DDX54', 'score': 10.35}, {'connected_gene': 'GC12M112995', 'score': 0.77}, {'connected_gene': 'ENSG00000257452', 'score': 0.34}, {'connected_gene': 'OAS2', 'score': 0.34}]
chr12	GH12I112988	112988316	112988465	0.38	[{'connected_gene': 'GC12M112984', 'score': 550.77}, {'connected_gene': 'OAS3', 'score': 11.04}, {'connected_gene': 'ENSG00000201208', 'score': 10.35}, {'connected_gene': 'DDX54', 'score': 10.35}, {'connected_gene': 'RITA1', 'score': 10.35}, {'connected_gene': 'GC12M112989', 'score': 0.77}, {'connected_gene': 'OAS2', 'score': 0.37}, {'connected_gene': 'ENSG00000257452', 'score': 0.31}]
chr12	GH12I113250	113250239	113250687	0.2	[{'connected_gene': 'ENSG00000277566', 'score': 550.77}, {'connected_gene': 'IQCD', 'score': 12.01}, {'connected_gene': 'TPCN1', 'score': 12.01}, {'connected_gene': 'DDX54', 'score': 11.2}, {'connected_gene': 'RITA1', 'score': 11.2}, {'connected_gene': 'ENSG00000201208', 'score': 11.19}, {'connected_gene': 'PLBD2', 'score': 10.52}, {'connected_gene': 'GC12M113256', 'score': 0.34}]