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
ENST00000305249	[[75273589, 75276850], [75278377, 75278574], [75280731, 75280882], [75347699, 75347894], [75425671, 75426826]]	[[75276558, 75276850], [75278377, 75278574], [75280731, 75280882], [75347699, 75347894], [75425671, 75426060]]
ENST00000409848	[[75278162, 75278574], [75280731, 75280882], [75347699, 75347894], [75425671, 75426183]]	[[75278373, 75278574], [75280731, 75280882], [75347699, 75347894], [75425671, 75426060]]
ENST00000497764	[[75345932, 75346066], [75347699, 75347892]]	None
NM_001058	[[75273589, 75276850], [75278377, 75278574], [75280731, 75280882], [75347699, 75347894], [75425671, 75426645]]	[[75276558, 75276850], [75278377, 75278574], [75280731, 75280882], [75347699, 75347894], [75425671, 75426060]]
NM_015727	[[75278162, 75278574], [75280731, 75280882], [75347699, 75347894], [75425671, 75426645]]	[[75278373, 75278574], [75280731, 75280882], [75347699, 75347894], [75425671, 75426060]]

Promoter

Chrom	Start	End	Description
chr2	75426637	75426652	CAGE_peak_1_at_TACR1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I072999	72999979	73002080	0.92	[{'connected_gene': 'SFXN5', 'score': 11.26}, {'connected_gene': 'SPR', 'score': 10.76}, {'connected_gene': 'RAB11FIP5', 'score': 9.02}, {'connected_gene': 'GC02P072995', 'score': 0.44}, {'connected_gene': 'LOC105374800', 'score': 0.23}]
chr2	GH02I072985	72985992	72986141	0.71	[{'connected_gene': 'SFXN5', 'score': 11.45}, {'connected_gene': 'RAB11FIP5', 'score': 11.04}, {'connected_gene': 'SPR', 'score': 10.63}, {'connected_gene': 'GC02P072995', 'score': 0.44}, {'connected_gene': 'PIR59519', 'score': 0.34}]
chr2	GH02I075604	75604277	75609784	1.5	[{'connected_gene': 'EVA1A', 'score': 16.39}, {'connected_gene': 'ENSG00000221638', 'score': 12.1}, {'connected_gene': 'MRPL19', 'score': 10.76}, {'connected_gene': 'TACR1', 'score': 10.55}, {'connected_gene': 'GCFC2', 'score': 9.42}, {'connected_gene': 'GC02M075596', 'score': 0.44}]
chr2	GH02I075613	75613490	75614987	0.69	[{'connected_gene': 'EVA1A', 'score': 10.76}, {'connected_gene': 'TACR1', 'score': 10.32}, {'connected_gene': 'GCFC2', 'score': 10.25}, {'connected_gene': 'MRPL19', 'score': 5.61}, {'connected_gene': 'ENSG00000221638', 'score': 0.39}, {'connected_gene': 'GC02M075596', 'score': 0.39}]
chr2	GH02I075588	75588943	75590100	0.66	[{'connected_gene': 'EVA1A', 'score': 10.14}, {'connected_gene': 'TACR1', 'score': 4.27}, {'connected_gene': 'ENSG00000230477', 'score': 0.44}]
chr2	GH02I075099	75099296	75101062	0.54	[{'connected_gene': 'TACR1', 'score': 10.04}, {'connected_gene': 'ENSG00000221638', 'score': 9.78}, {'connected_gene': 'MOGS', 'score': 4.87}, {'connected_gene': 'ENSG00000270571', 'score': 4.87}, {'connected_gene': 'MIR5000', 'score': 0.44}, {'connected_gene': 'PIR31932', 'score': 0.34}]
chr2	GH02I072864	72864572	72864741	0.57	[{'connected_gene': 'SPR', 'score': 0.34}, {'connected_gene': 'EXOC6B', 'score': 0.28}]
chr2	GH02I075200	75199026	75199085	0.61	[{'connected_gene': 'TACR1', 'score': 550.77}, {'connected_gene': 'ENSG00000270571', 'score': 0.26}, {'connected_gene': 'LOC105374811', 'score': 0.23}]
chr2	GH02I075199	75199370	75201200	1.78	[{'connected_gene': 'TACR1', 'score': 553.29}, {'connected_gene': 'GC02P075206', 'score': 0.44}, {'connected_gene': 'LOC105374811', 'score': 0.23}]
chr2	GH02I075221	75221841	75222768	0.31	[{'connected_gene': 'TACR1', 'score': 11.87}, {'connected_gene': 'GC02P075206', 'score': 0.37}, {'connected_gene': 'LOC105374811', 'score': 0.18}, {'connected_gene': 'GC02P075321', 'score': 0.15}]
chr2	GH02I072886	72886645	72888733	2.01	[{'connected_gene': 'SPR', 'score': 550.77}, {'connected_gene': 'GC02P072891', 'score': 0.77}]
chr2	GH02I075055	75055036	75057728	1	[{'connected_gene': 'TTC31', 'score': 19.16}, {'connected_gene': 'AUP1', 'score': 15.79}, {'connected_gene': 'MOGS', 'score': 15.41}, {'connected_gene': 'PCGF1', 'score': 14.31}, {'connected_gene': 'CCDC142', 'score': 14.26}, {'connected_gene': 'MOB1A', 'score': 12.04}, {'connected_gene': 'HTRA2', 'score': 10.6}, {'connected_gene': 'ENSG00000221638', 'score': 9.5}, {'connected_gene': 'GC02M075054', 'score': 0.77}, {'connected_gene': 'GC02M075053', 'score': 0.77}, {'connected_gene': 'MIR5000', 'score': 0.29}, {'connected_gene': 'TACR1', 'score': 0.11}]
chr2	GH02I072862	72862201	72863200	1.14	[{'connected_gene': 'CYP26B1', 'score': 7.64}, {'connected_gene': 'SPR', 'score': 0.34}, {'connected_gene': 'EXOC6B', 'score': 0.28}]
chr2	GH02I072756	72756673	72758191	1.16	[{'connected_gene': 'CYP26B1', 'score': 11.31}, {'connected_gene': 'SPR', 'score': 9.48}, {'connected_gene': 'GC02P072760', 'score': 0.77}, {'connected_gene': 'RNU2-39P', 'score': 0.28}, {'connected_gene': 'EXOC6B', 'score': 0.2}]
chr2	GH02I072986	72986191	72986700	0.69	[{'connected_gene': 'RAB11FIP5', 'score': 19.86}, {'connected_gene': 'SFXN5', 'score': 11.45}, {'connected_gene': 'SPR', 'score': 10.63}, {'connected_gene': 'GC02P072995', 'score': 0.44}, {'connected_gene': 'PIR59519', 'score': 0.34}]
chr2	GH02I072983	72983612	72985388	0.69	[{'connected_gene': 'RAB11FIP5', 'score': 16.4}, {'connected_gene': 'SFXN5', 'score': 15.19}, {'connected_gene': 'SPR', 'score': 10.95}, {'connected_gene': 'GC02P072995', 'score': 0.39}, {'connected_gene': 'PIR59519', 'score': 0.37}]
chr2	GH02I073020	73020351	73022043	0.91	[{'connected_gene': 'RAB11FIP5', 'score': 19.16}, {'connected_gene': 'SFXN5', 'score': 11.79}, {'connected_gene': 'EMX1', 'score': 10.63}, {'connected_gene': 'SPR', 'score': 10.36}, {'connected_gene': 'GC02P072995', 'score': 0.31}, {'connected_gene': 'LOC105374800', 'score': 0.29}]
chr2	GH02I073109	73109296	73114494	2.44	[{'connected_gene': 'RAB11FIP5', 'score': 572.31}, {'connected_gene': 'ENSG00000272702', 'score': 550.77}, {'connected_gene': 'DUSP11', 'score': 23.75}, {'connected_gene': 'ENSG00000273245', 'score': 21.08}, {'connected_gene': 'SFXN5', 'score': 16.03}, {'connected_gene': 'EMX1', 'score': 10.28}, {'connected_gene': 'SPR', 'score': 10.01}, {'connected_gene': 'SMYD5', 'score': 4.49}, {'connected_gene': 'GC02M073116', 'score': 0.29}, {'connected_gene': 'PIR41361', 'score': 0.29}]
chr2	GH02I073082	73082655	73083315	0.2	[{'connected_gene': 'RAB11FIP5', 'score': 19.65}, {'connected_gene': 'SPR', 'score': 10.22}, {'connected_gene': 'GC02M073116', 'score': 0.77}, {'connected_gene': 'PIR41361', 'score': 0.77}, {'connected_gene': 'ENSG00000272702', 'score': 0.29}]
chr2	GH02I073083	73083500	73092800	1.28	[{'connected_gene': 'RAB11FIP5', 'score': 20.85}, {'connected_gene': 'SPR', 'score': 10.23}, {'connected_gene': 'GC02M073116', 'score': 0.44}, {'connected_gene': 'PIR41361', 'score': 0.44}, {'connected_gene': 'ENSG00000272702', 'score': 0.34}]
chr2	GH02I072788	72788912	72789061	0.38	[{'connected_gene': 'EXOC6B', 'score': 11.36}, {'connected_gene': 'SPR', 'score': 10.68}, {'connected_gene': 'EMX1', 'score': 9.89}, {'connected_gene': 'ENSG00000212378', 'score': 0.31}]
chr2	GH02I072827	72827204	72829248	0.93	[{'connected_gene': 'EXOC6B', 'score': 0.77}, {'connected_gene': 'SPR', 'score': 0.22}]
chr2	GH02I072793	72793284	72795317	0.63	[{'connected_gene': 'EXOC6B', 'score': 11.66}, {'connected_gene': 'ENSG00000212378', 'score': 11.3}, {'connected_gene': 'SPR', 'score': 10.35}]
chr2	GH02I072765	72765313	72766847	0.46	[{'connected_gene': 'EXOC6B', 'score': 10.98}, {'connected_gene': 'SPR', 'score': 10.09}, {'connected_gene': 'ENSG00000212378', 'score': 0.44}]
chr2	GH02I072771	72771032	72771141	0.84	[{'connected_gene': 'EXOC6B', 'score': 11.09}, {'connected_gene': 'SPR', 'score': 10.75}, {'connected_gene': 'ENSG00000212378', 'score': 0.39}]
chr2	GH02I072915	72915293	72919512	1.87	[{'connected_gene': 'EMX1', 'score': 550.44}, {'connected_gene': 'SPR', 'score': 11.7}, {'connected_gene': 'SFXN5', 'score': 9.35}, {'connected_gene': 'ENSG00000278060', 'score': 0.37}]
chr2	GH02I072950	72950738	72952661	0.74	[{'connected_gene': 'EMX1', 'score': 10.94}, {'connected_gene': 'SPR', 'score': 10.89}, {'connected_gene': 'PIR39506', 'score': 0.44}, {'connected_gene': 'GC02P072965', 'score': 0.39}, {'connected_gene': 'SFXN5', 'score': 0.13}]
chr2	GH02I074745	74745982	74748107	1.06	[{'connected_gene': 'SEMA4F', 'score': 10.61}, {'connected_gene': 'M1AP', 'score': 10.61}, {'connected_gene': 'TACR1', 'score': 5.49}, {'connected_gene': 'RPS28P5', 'score': 0.44}, {'connected_gene': 'LOC102724497', 'score': 0.29}]
chr2	GH02I073212	73212513	73213203	0.82	[{'connected_gene': 'SMYD5', 'score': 550.77}, {'connected_gene': 'PRADC1', 'score': 20.15}, {'connected_gene': 'CCT7', 'score': 17.49}, {'connected_gene': 'RAB11FIP5', 'score': 10.7}, {'connected_gene': 'SFXN5', 'score': 10.16}, {'connected_gene': 'SPR', 'score': 10.0}, {'connected_gene': 'NOTO', 'score': 0.39}]
chr2	GH02I073175	73175043	73178265	1.56	[{'connected_gene': 'SMYD5', 'score': 21.01}, {'connected_gene': 'ALMS1', 'score': 14.1}, {'connected_gene': 'DUSP11', 'score': 13.27}, {'connected_gene': 'SFXN5', 'score': 12.86}, {'connected_gene': 'PRADC1', 'score': 11.86}, {'connected_gene': 'NOTO', 'score': 11.63}, {'connected_gene': 'SPR', 'score': 11.18}, {'connected_gene': 'ENSG00000273245', 'score': 11.14}, {'connected_gene': 'EMX1', 'score': 10.46}, {'connected_gene': 'CCT7', 'score': 5.09}, {'connected_gene': 'EGR4', 'score': 1.45}, {'connected_gene': 'GC02P073186', 'score': 0.44}, {'connected_gene': 'RAB11FIP5', 'score': 0.37}]
chr2	GH02I073191	73191133	73192599	0.79	[{'connected_gene': 'SMYD5', 'score': 21.9}, {'connected_gene': 'RAB11FIP5', 'score': 11.24}, {'connected_gene': 'PRADC1', 'score': 11.02}, {'connected_gene': 'SFXN5', 'score': 10.97}, {'connected_gene': 'SPR', 'score': 9.87}, {'connected_gene': 'EMX1', 'score': 9.82}, {'connected_gene': 'CCT7', 'score': 4.99}, {'connected_gene': 'GC02P073186', 'score': 0.44}, {'connected_gene': 'NOTO', 'score': 0.39}]
chr2	GH02I074919	74919601	74920423	0.75	[{'connected_gene': 'LINC01291', 'score': 10.41}, {'connected_gene': 'ENSG00000221638', 'score': 9.98}, {'connected_gene': 'TACR1', 'score': 9.74}, {'connected_gene': 'ENSG00000236209', 'score': 5.74}, {'connected_gene': 'GC02P074916', 'score': 0.77}]
chr2	GH02I075075	75075669	75077511	0.43	[{'connected_gene': 'MIR5000', 'score': 0.39}, {'connected_gene': 'GC02M075054', 'score': 0.34}, {'connected_gene': 'GC02M075053', 'score': 0.34}, {'connected_gene': 'TACR1', 'score': 0.13}]
chr2	GH02I074922	74922525	74923200	0.38	[{'connected_gene': 'ENSG00000236209', 'score': 550.77}, {'connected_gene': 'ENSG00000221638', 'score': 9.98}, {'connected_gene': 'TACR1', 'score': 9.74}, {'connected_gene': 'GC02P074916', 'score': 0.44}, {'connected_gene': 'LINC01291', 'score': 0.39}]
chr2	GH02I075047	75047415	75048535	0.56	[{'connected_gene': 'GC02M075054', 'score': 0.44}, {'connected_gene': 'GC02M075053', 'score': 0.44}, {'connected_gene': 'GC02P074991', 'score': 0.22}, {'connected_gene': 'TACR1', 'score': 0.1}]
chr2	GH02I075053	75053634	75053743	0.75	[{'connected_gene': 'GC02M075054', 'score': 550.77}, {'connected_gene': 'GC02M075053', 'score': 550.77}, {'connected_gene': 'ENSG00000221638', 'score': 9.24}, {'connected_gene': 'GC02P074991', 'score': 0.21}, {'connected_gene': 'TACR1', 'score': 0.11}]
chr2	GH02I072963	72963095	72964141	0.72	[{'connected_gene': 'GC02P072965', 'score': 550.77}, {'connected_gene': 'PIR59519', 'score': 550.77}, {'connected_gene': 'EMX1', 'score': 11.44}, {'connected_gene': 'SPR', 'score': 11.29}, {'connected_gene': 'RAB11FIP5', 'score': 10.92}, {'connected_gene': 'SFXN5', 'score': 10.41}, {'connected_gene': 'ALMS1P1', 'score': 5.09}, {'connected_gene': 'PIR39506', 'score': 0.34}]
chr2	GH02I075153	75153395	75153544	0.91	[{'connected_gene': 'ENSG00000270571', 'score': 559.12}, {'connected_gene': 'LOC105374812', 'score': 550.77}, {'connected_gene': 'TACR1', 'score': 11.63}, {'connected_gene': 'LOC105374811', 'score': 0.44}]
chr2	GH02I075154	75153671	75154824	0.99	[{'connected_gene': 'ENSG00000270571', 'score': 560.2}, {'connected_gene': 'LOC105374812', 'score': 550.77}, {'connected_gene': 'TACR1', 'score': 11.63}, {'connected_gene': 'LOC105374811', 'score': 0.44}]
chr2	GH02I075173	75173875	75174024	0.2	[{'connected_gene': 'ENSG00000270571', 'score': 0.37}, {'connected_gene': 'LOC105374812', 'score': 0.34}, {'connected_gene': 'LOC105374811', 'score': 0.31}, {'connected_gene': 'TACR1', 'score': 0.31}]
chr2	GH02I075065	75065001	75065200	0.65	[{'connected_gene': 'ENSG00000221638', 'score': 9.56}, {'connected_gene': 'GC02M075054', 'score': 0.39}, {'connected_gene': 'GC02M075053', 'score': 0.39}, {'connected_gene': 'MIR5000', 'score': 0.31}, {'connected_gene': 'TACR1', 'score': 0.12}]