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
ENST00000335459	[[85048773, 85049224], [85051076, 85051328], [85059178, 85059269], [85066272, 85066447], [85097348, 85097909], [85108055, 85108369]]	[[85049040, 85049224], [85051076, 85051328], [85059178, 85059269], [85066272, 85066447], [85097348, 85097909], [85108055, 85108163]]
ENST00000409520	[[85048792, 85049224], [85051076, 85051328], [85059178, 85059269], [85066272, 85066447], [85068984, 85069131], [85097348, 85097909], [85108055, 85108206]]	[[85049040, 85049224], [85051076, 85051328], [85059178, 85059269], [85066272, 85066447], [85068984, 85069131], [85097348, 85097909], [85108055, 85108163]]
ENST00000496500	[[85049065, 85049224], [85051076, 85051328], [85059178, 85059269], [85066272, 85066447], [85068984, 85069145]]	None
ENST00000495990	[[85063042, 85065365], [85066272, 85066447], [85068984, 85069131], [85070693, 85071108]]	None
ENST00000409133	[[85064913, 85065365], [85066272, 85066447], [85068984, 85069131], [85097348, 85097909], [85108055, 85108274]]	[[85065354, 85065365], [85066272, 85066447], [85068984, 85069131], [85097348, 85097909], [85108055, 85108163]]
ENST00000479944	[[85048789, 85049224], [85051076, 85051328], [85059178, 85059269], [85059511, 85062628]]	None
ENST00000460991	[[85066190, 85066447], [85068984, 85069131], [85076547, 85076680]]	None
ENST00000436322	[[85097452, 85097909], [85108985, 85109099]]	None
ENST00000474298	[[85097712, 85097909], [85133786, 85134132]]	None
ENST00000489999	[[85128766, 85129002], [85133786, 85134132]]	None
NM_001277053	[[85048789, 85049224], [85051076, 85051328], [85059178, 85059269], [85066272, 85066447], [85068984, 85069131], [85097348, 85097909], [85108055, 85108369]]	[[85049040, 85049224], [85051076, 85051328], [85059178, 85059269], [85066272, 85066447], [85068984, 85069131], [85097348, 85097909], [85108055, 85108163]]
NM_001080824	[[85048789, 85049224], [85051076, 85051328], [85059178, 85059269], [85066272, 85066447], [85097348, 85097909], [85108055, 85108369]]	[[85049040, 85049224], [85051076, 85051328], [85059178, 85059269], [85066272, 85066447], [85097348, 85097909], [85108055, 85108163]]
NM_001307978	[[85063042, 85065365], [85066272, 85066447], [85068984, 85069131], [85097348, 85097909], [85108055, 85108369]]	[[85065354, 85065365], [85066272, 85066447], [85068984, 85069131], [85097348, 85097909], [85108055, 85108163]]

Promoter

Chrom	Start	End	Description
chr2	85108164	85108218	CAGE_peak_1_at_C2orf89_5end
chr2	85108240	85108263	CAGE_peak_4_at_C2orf89_5end
chr2	85108363	85108375	CAGE_peak_3_at_C2orf89_5end
chr2	85108416	85108456	CAGE_peak_2_at_C2orf89_5end
chr2	85108464	85108488	CAGE_peak_7_at_C2orf89_5end
chr2	85108511	85108521	CAGE_peak_11_at_C2orf89_5end
chr2	85133792	85133798	CAGE_peak_5_at_C2orf89_5end
chr2	85134117	85134150	CAGE_peak_6_at_C2orf89_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I084740	84740841	84742049	0.77	[{'connected_gene': 'SUCLG1', 'score': 5.99}, {'connected_gene': 'TRABD2A', 'score': 5.84}, {'connected_gene': 'DUXAP1', 'score': 0.44}, {'connected_gene': 'GC02P084565', 'score': 0.1}, {'connected_gene': 'DNAH6', 'score': 0.06}]
chr2	GH02I084485	84485332	84488249	0.73	[{'connected_gene': 'SUCLG1', 'score': 17.29}, {'connected_gene': 'TRABD2A', 'score': 10.33}, {'connected_gene': 'RPS2P17', 'score': 10.33}, {'connected_gene': 'DNAH6', 'score': 6.6}, {'connected_gene': 'PIR55247', 'score': 0.44}, {'connected_gene': 'GC02P084502', 'score': 0.37}]
chr2	GH02I085275	85275657	85279341	1.29	[{'connected_gene': 'TCF7L1', 'score': 25.25}, {'connected_gene': 'RNU6-674P', 'score': 11.71}, {'connected_gene': 'RPS2P17', 'score': 9.67}, {'connected_gene': 'TRABD2A', 'score': 9.67}, {'connected_gene': 'SH2D6', 'score': 6.04}, {'connected_gene': 'LOC100996506', 'score': 4.53}, {'connected_gene': 'ATOH8', 'score': 2.72}, {'connected_gene': 'TMEM150A', 'score': 1.74}, {'connected_gene': 'TMSB10', 'score': 1.45}, {'connected_gene': 'ENSG00000230299', 'score': 0.37}, {'connected_gene': 'GC02M085296', 'score': 0.37}]
chr2	GH02I084873	84873979	84875800	0.49	[{'connected_gene': 'RPL12P18', 'score': 550.77}, {'connected_gene': 'GC02P084874', 'score': 550.77}, {'connected_gene': 'TRABD2A', 'score': 16.39}, {'connected_gene': 'RPS2P17', 'score': 11.57}, {'connected_gene': 'LOC105374837', 'score': 0.39}]
chr2	GH02I084876	84876196	84876730	0.2	[{'connected_gene': 'RPL12P18', 'score': 550.77}, {'connected_gene': 'GC02P084874', 'score': 550.77}, {'connected_gene': 'TRABD2A', 'score': 19.78}, {'connected_gene': 'RPS2P17', 'score': 11.8}, {'connected_gene': 'LOC105374837', 'score': 0.39}]
chr2	GH02I084937	84937757	84940768	1.54	[{'connected_gene': 'KCMF1', 'score': 1.58}, {'connected_gene': 'TRABD2A', 'score': 1.49}, {'connected_gene': 'GC02M084928', 'score': 0.39}, {'connected_gene': 'LOC105374838', 'score': 0.39}, {'connected_gene': 'GC02M084965', 'score': 0.29}]
chr2	GH02I084963	84963338	84965643	1.37	[{'connected_gene': 'RPS2P17', 'score': 10.85}, {'connected_gene': 'TRABD2A', 'score': 10.82}, {'connected_gene': 'KCMF1', 'score': 5.83}, {'connected_gene': 'GC02M084965', 'score': 0.44}, {'connected_gene': 'GC02M084928', 'score': 0.28}, {'connected_gene': 'LOC105374838', 'score': 0.28}, {'connected_gene': 'GC02M084958', 'score': 0.23}]
chr2	GH02I084975	84975801	84976600	0.2	[{'connected_gene': 'RPS2P17', 'score': 10.63}, {'connected_gene': 'TRABD2A', 'score': 10.62}, {'connected_gene': 'KCMF1', 'score': 6.17}, {'connected_gene': 'GC02M085007', 'score': 0.31}, {'connected_gene': 'PIR52578', 'score': 0.31}, {'connected_gene': 'GC02M084958', 'score': 0.26}]
chr2	GH02I084990	84990038	84993187	0.96	[{'connected_gene': 'RPS2P17', 'score': 11.01}, {'connected_gene': 'TRABD2A', 'score': 11.01}, {'connected_gene': 'KCMF1', 'score': 6.09}, {'connected_gene': 'GC02M085007', 'score': 0.39}, {'connected_gene': 'PIR52578', 'score': 0.39}, {'connected_gene': 'GC02M084958', 'score': 0.31}]
chr2	GH02I085008	85008801	85009400	0.8	[{'connected_gene': 'RPS2P17', 'score': 10.71}, {'connected_gene': 'TRABD2A', 'score': 10.7}, {'connected_gene': 'GC02M085007', 'score': 0.77}, {'connected_gene': 'PIR52578', 'score': 0.77}, {'connected_gene': 'GC02M084958', 'score': 0.44}, {'connected_gene': 'GC02P085016', 'score': 0.44}, {'connected_gene': 'KCMF1', 'score': 0.28}]
chr2	GH02I084989	84989601	84989800	0.2	[{'connected_gene': 'RPS2P17', 'score': 11.02}, {'connected_gene': 'TRABD2A', 'score': 11.01}, {'connected_gene': 'GC02M085007', 'score': 0.39}, {'connected_gene': 'PIR52578', 'score': 0.39}, {'connected_gene': 'KCMF1', 'score': 0.37}, {'connected_gene': 'GC02M084958', 'score': 0.31}]
chr2	GH02I084956	84956525	84961229	1.62	[{'connected_gene': 'RPS2P17', 'score': 11.26}, {'connected_gene': 'TRABD2A', 'score': 11.23}, {'connected_gene': 'GC02M084965', 'score': 0.39}, {'connected_gene': 'GC02M084928', 'score': 0.29}, {'connected_gene': 'LOC105374838', 'score': 0.29}, {'connected_gene': 'GC02M084958', 'score': 0.22}]
chr2	GH02I084829	84829601	84834308	1.21	[{'connected_gene': 'C2orf68', 'score': 11.05}, {'connected_gene': 'LOC100996506', 'score': 10.83}, {'connected_gene': 'USP39', 'score': 10.43}, {'connected_gene': 'MAT2A', 'score': 9.89}, {'connected_gene': 'DNAH6', 'score': 9.47}, {'connected_gene': 'TRABD2A', 'score': 7.77}, {'connected_gene': 'ENSG00000276362', 'score': 0.37}, {'connected_gene': 'GC02P084793', 'score': 0.28}]
chr2	GH02I084805	84805533	84808853	1.25	[{'connected_gene': 'DNAH6', 'score': 9.82}, {'connected_gene': 'TRABD2A', 'score': 7.88}, {'connected_gene': 'GC02P084793', 'score': 0.39}, {'connected_gene': 'ENSG00000276362', 'score': 0.26}]
chr2	GH02I084837	84837668	84840138	0.62	[{'connected_gene': 'DNAH6', 'score': 9.51}, {'connected_gene': 'TRABD2A', 'score': 6.12}, {'connected_gene': 'ENSG00000276362', 'score': 0.39}, {'connected_gene': 'GC02P084793', 'score': 0.25}]
chr2	GH02I084515	84515701	84517000	1.79	[{'connected_gene': 'DNAH6', 'score': 550.22}, {'connected_gene': 'TRABD2A', 'score': 6.82}, {'connected_gene': 'GC02P084502', 'score': 0.39}, {'connected_gene': 'GC02M084513', 'score': 0.34}]
chr2	GH02I084822	84822093	84823762	0.31	[{'connected_gene': 'DNAH6', 'score': 7.1}, {'connected_gene': 'GC02P084793', 'score': 0.31}, {'connected_gene': 'ENSG00000276362', 'score': 0.31}, {'connected_gene': 'TRABD2A', 'score': 0.18}]
chr2	GH02I084904	84904182	84909818	2.26	[{'connected_gene': 'TRABD2A', 'score': 560.15}, {'connected_gene': 'TMSB10', 'score': 550.77}, {'connected_gene': 'LOC105374836', 'score': 550.77}, {'connected_gene': 'USP39', 'score': 21.28}, {'connected_gene': 'TCF7L1', 'score': 21.1}, {'connected_gene': 'ELMOD3', 'score': 12.08}, {'connected_gene': 'C2orf68', 'score': 11.05}, {'connected_gene': 'LOC100996506', 'score': 10.84}, {'connected_gene': 'VAMP8', 'score': 10.05}, {'connected_gene': 'GC02P084898', 'score': 0.44}]
chr2	GH02I084901	84901207	84902584	0.51	[{'connected_gene': 'TRABD2A', 'score': 8.76}, {'connected_gene': 'GC02P084898', 'score': 0.77}, {'connected_gene': 'TMSB10', 'score': 0.77}, {'connected_gene': 'LOC105374836', 'score': 0.44}, {'connected_gene': 'LOC105374837', 'score': 0.39}]
chr2	GH02I084493	84493117	84494304	0.49	[{'connected_gene': 'TRABD2A', 'score': 6.82}, {'connected_gene': 'SUCLG1', 'score': 5.46}, {'connected_gene': 'GC02P084502', 'score': 0.44}, {'connected_gene': 'PIR55247', 'score': 0.37}, {'connected_gene': 'DNAH6', 'score': 0.29}]
chr2	GH02I084863	84863825	84865228	0.56	[{'connected_gene': 'TRABD2A', 'score': 21.49}, {'connected_gene': 'RPS2P17', 'score': 11.01}, {'connected_gene': 'GC02P084862', 'score': 0.77}, {'connected_gene': 'RPL12P18', 'score': 0.39}]
chr2	GH02I084866	84866328	84866700	0.42	[{'connected_gene': 'TRABD2A', 'score': 19.97}, {'connected_gene': 'RPS2P17', 'score': 11.03}, {'connected_gene': 'GC02P084862', 'score': 0.77}, {'connected_gene': 'RPL12P18', 'score': 0.44}]
chr2	GH02I084865	84865297	84865446	0.76	[{'connected_gene': 'TRABD2A', 'score': 11.04}, {'connected_gene': 'RPS2P17', 'score': 11.01}, {'connected_gene': 'GC02P084862', 'score': 0.77}, {'connected_gene': 'RPL12P18', 'score': 0.44}]
chr2	GH02I084868	84868574	84873008	0.59	[{'connected_gene': 'TRABD2A', 'score': 21.59}, {'connected_gene': 'RPS2P17', 'score': 11.15}, {'connected_gene': 'DNAH6', 'score': 4.86}, {'connected_gene': 'RPL12P18', 'score': 0.77}, {'connected_gene': 'GC02P084862', 'score': 0.44}]
chr2	GH02I084842	84842887	84848346	1.06	[{'connected_gene': 'TRABD2A', 'score': 22.67}, {'connected_gene': 'RPS2P17', 'score': 10.62}, {'connected_gene': 'DNAH6', 'score': 10.52}, {'connected_gene': 'RN7SL113P', 'score': 5.85}, {'connected_gene': 'ENSG00000276362', 'score': 0.44}, {'connected_gene': 'GC02P084793', 'score': 0.23}]
chr2	GH02I084854	84854313	84855012	0.2	[{'connected_gene': 'TRABD2A', 'score': 16.65}, {'connected_gene': 'RPS2P17', 'score': 10.75}, {'connected_gene': 'ENSG00000276362', 'score': 0.77}, {'connected_gene': 'GC02P084858', 'score': 0.77}]
chr2	GH02I084855	84855857	84856006	0.63	[{'connected_gene': 'TRABD2A', 'score': 10.77}, {'connected_gene': 'RPS2P17', 'score': 10.76}, {'connected_gene': 'GC02P084858', 'score': 0.77}, {'connected_gene': 'ENSG00000276362', 'score': 0.44}]
chr2	GH02I084781	84781098	84784233	0.85	[{'connected_gene': 'TRABD2A', 'score': 7.52}, {'connected_gene': 'DNAH6', 'score': 7.1}, {'connected_gene': 'LDHAP7', 'score': 0.77}, {'connected_gene': 'GC02P084793', 'score': 0.39}]
chr2	GH02I084816	84816284	84817749	0.76	[{'connected_gene': 'TRABD2A', 'score': 7.88}, {'connected_gene': 'DNAH6', 'score': 6.87}, {'connected_gene': 'GC02P084793', 'score': 0.34}, {'connected_gene': 'ENSG00000276362', 'score': 0.29}]
chr2	GH02I084828	84828057	84829385	0.38	[{'connected_gene': 'TRABD2A', 'score': 7.91}, {'connected_gene': 'DNAH6', 'score': 6.85}, {'connected_gene': 'ENSG00000276362', 'score': 0.34}, {'connected_gene': 'GC02P084793', 'score': 0.28}]
chr2	GH02I084878	84878628	84882866	2.12	[{'connected_gene': 'TRABD2A', 'score': 558.54}, {'connected_gene': 'LOC105374837', 'score': 0.44}, {'connected_gene': 'GC02P084874', 'score': 0.44}]
chr2	GH02I084893	84893992	84895891	0.94	[{'connected_gene': 'TRABD2A', 'score': 10.5}, {'connected_gene': 'GC02P084898', 'score': 0.77}, {'connected_gene': 'LOC105374837', 'score': 0.44}]
chr2	GH02I084887	84887494	84890667	1.51	[{'connected_gene': 'LOC105374837', 'score': 550.77}, {'connected_gene': 'RPS2P17', 'score': 12.09}, {'connected_gene': 'TRABD2A', 'score': 10.47}, {'connected_gene': 'TMSB10', 'score': 1.77}, {'connected_gene': 'GC02P084898', 'score': 0.44}]
chr2	GH02I085017	85017201	85019865	0.89	[{'connected_gene': 'GC02M084958', 'score': 550.77}, {'connected_gene': 'GC02P085016', 'score': 550.77}, {'connected_gene': 'KCMF1', 'score': 17.13}, {'connected_gene': 'RPS2P17', 'score': 10.61}, {'connected_gene': 'TRABD2A', 'score': 10.6}, {'connected_gene': 'PIR46561', 'score': 0.25}, {'connected_gene': 'GC02M085069', 'score': 0.25}]
chr2	GH02I085014	85014601	85016200	1.11	[{'connected_gene': 'GC02P085016', 'score': 550.77}, {'connected_gene': 'KCMF1', 'score': 18.41}, {'connected_gene': 'RPS2P17', 'score': 10.67}, {'connected_gene': 'TRABD2A', 'score': 10.66}, {'connected_gene': 'GC02M084958', 'score': 0.77}, {'connected_gene': 'GC02M085007', 'score': 0.39}, {'connected_gene': 'PIR52578', 'score': 0.39}]
chr2	GH02I085003	85003502	85004381	0.8	[{'connected_gene': 'GC02M085007', 'score': 550.77}, {'connected_gene': 'PIR52578', 'score': 550.77}, {'connected_gene': 'KCMF1', 'score': 13.06}, {'connected_gene': 'RPS2P17', 'score': 10.86}, {'connected_gene': 'TRABD2A', 'score': 10.85}, {'connected_gene': 'GC02M084958', 'score': 0.39}]
chr2	GH02I085016	85016801	85017000	0.2	[{'connected_gene': 'GC02M084958', 'score': 550.77}, {'connected_gene': 'GC02P085016', 'score': 550.77}, {'connected_gene': 'KCMF1', 'score': 11.88}, {'connected_gene': 'RPS2P17', 'score': 10.61}, {'connected_gene': 'TRABD2A', 'score': 10.61}]
chr2	GH02I085005	85005528	85006799	0.66	[{'connected_gene': 'GC02M085007', 'score': 550.77}, {'connected_gene': 'PIR52578', 'score': 550.77}, {'connected_gene': 'RPS2P17', 'score': 10.71}, {'connected_gene': 'TRABD2A', 'score': 10.71}, {'connected_gene': 'GC02M084958', 'score': 0.39}, {'connected_gene': 'GC02P085016', 'score': 0.39}, {'connected_gene': 'KCMF1', 'score': 0.28}]
chr2	GH02I085006	85005001	85005200	0.2	[{'connected_gene': 'GC02M085007', 'score': 550.77}, {'connected_gene': 'PIR52578', 'score': 550.77}, {'connected_gene': 'RPS2P17', 'score': 10.72}, {'connected_gene': 'TRABD2A', 'score': 10.71}, {'connected_gene': 'GC02M084958', 'score': 0.39}, {'connected_gene': 'GC02P085016', 'score': 0.39}, {'connected_gene': 'KCMF1', 'score': 0.29}]
chr2	GH02I084856	84856824	84857551	1.12	[{'connected_gene': 'GC02P084858', 'score': 550.77}, {'connected_gene': 'TRABD2A', 'score': 20.68}, {'connected_gene': 'RPS2P17', 'score': 10.87}, {'connected_gene': 'ENSG00000276362', 'score': 0.44}]
chr2	GH02I084859	84859876	84863556	0.31	[{'connected_gene': 'GC02P084862', 'score': 550.77}, {'connected_gene': 'TRABD2A', 'score': 21.48}, {'connected_gene': 'RPS2P17', 'score': 11.01}, {'connected_gene': 'GC02P084858', 'score': 0.77}]
chr2	GH02I084857	84857965	84859589	0.43	[{'connected_gene': 'GC02P084858', 'score': 550.77}, {'connected_gene': 'TRABD2A', 'score': 21.27}, {'connected_gene': 'RPS2P17', 'score': 10.87}, {'connected_gene': 'GC02P084862', 'score': 0.77}]
chr2	GH02I084897	84897146	84900359	1.17	[{'connected_gene': 'GC02P084898', 'score': 550.77}, {'connected_gene': 'TRABD2A', 'score': 10.15}, {'connected_gene': 'LOC105374837', 'score': 0.44}]
chr2	GH02I084848	84848985	84850270	0.66	[{'connected_gene': 'ENSG00000276362', 'score': 550.77}, {'connected_gene': 'TRABD2A', 'score': 5.97}, {'connected_gene': 'GC02P084793', 'score': 0.22}]