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

Promoter

Chrom	Start	End	Description
chr2	88469849	88469906	CAGE_peak_1_at_THNSL2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I088265	88265289	88266351	1.06	[{'connected_gene': 'THNSL2', 'score': 9.12}, {'connected_gene': 'EIF2AK3', 'score': 5.14}, {'connected_gene': 'GC02M088230', 'score': 0.28}, {'connected_gene': 'RNY4P15', 'score': 0.28}, {'connected_gene': 'GC02P088321', 'score': 0.22}]
chr2	GH02I088239	88239813	88240031	0.86	[{'connected_gene': 'THNSL2', 'score': 11.83}, {'connected_gene': 'RGPD2', 'score': 1.52}, {'connected_gene': 'EIF2AK3', 'score': 1.21}, {'connected_gene': 'GC02M088230', 'score': 0.39}, {'connected_gene': 'RNY4P15', 'score': 0.39}, {'connected_gene': 'GC02P088321', 'score': 0.18}]
chr2	GH02I088143	88143122	88143718	0.2	[{'connected_gene': 'THNSL2', 'score': 43.97}, {'connected_gene': 'KRCC1', 'score': 11.09}, {'connected_gene': 'GC02P088146', 'score': 0.77}, {'connected_gene': 'FABP1', 'score': 0.37}, {'connected_gene': 'LOC101928347', 'score': 0.31}]
chr2	GH02I088054	88053402	88053571	0.38	[{'connected_gene': 'THNSL2', 'score': 10.04}, {'connected_gene': 'KRCC1', 'score': 0.77}, {'connected_gene': 'GC02M088051', 'score': 0.39}, {'connected_gene': 'PIR45221', 'score': 0.34}]
chr2	GH02I088036	88036401	88036800	0.2	[{'connected_gene': 'THNSL2', 'score': 10.07}, {'connected_gene': 'PIR45221', 'score': 0.44}, {'connected_gene': 'KRCC1', 'score': 0.37}]
chr2	GH02I088060	88060502	88060651	0.77	[{'connected_gene': 'THNSL2', 'score': 11.36}, {'connected_gene': 'KRCC1', 'score': 0.77}, {'connected_gene': 'GC02M088051', 'score': 0.44}]
chr2	GH02I088058	88058070	88058687	0.38	[{'connected_gene': 'THNSL2', 'score': 11.35}, {'connected_gene': 'KRCC1', 'score': 0.77}, {'connected_gene': 'GC02M088051', 'score': 0.44}]
chr2	GH02I088037	88037485	88039808	0.89	[{'connected_gene': 'THNSL2', 'score': 14.33}, {'connected_gene': 'PIR45221', 'score': 0.44}, {'connected_gene': 'KRCC1', 'score': 0.37}]
chr2	GH02I088099	88099862	88100151	0.62	[{'connected_gene': 'THNSL2', 'score': 10.77}, {'connected_gene': 'RPIA', 'score': 4.01}, {'connected_gene': 'MIR4780', 'score': 0.37}, {'connected_gene': 'FABP1', 'score': 0.31}, {'connected_gene': 'SMYD1', 'score': 0.29}]
chr2	GH02I088160	88160002	88160151	1.07	[{'connected_gene': 'THNSL2', 'score': 82.5}, {'connected_gene': 'FABP1', 'score': 11.07}, {'connected_gene': 'GC02P088146', 'score': 0.39}, {'connected_gene': 'LOC101928347', 'score': 0.39}]
chr2	GH02I088123	88123178	88124872	0.38	[{'connected_gene': 'THNSL2', 'score': 10.28}, {'connected_gene': 'FABP1', 'score': 6.92}, {'connected_gene': 'MIR4780', 'score': 0.26}]
chr2	GH02I088121	88121634	88123083	0.62	[{'connected_gene': 'THNSL2', 'score': 11.47}, {'connected_gene': 'FABP1', 'score': 6.81}, {'connected_gene': 'MIR4780', 'score': 0.28}]
chr2	GH02I088169	88169639	88171376	1.52	[{'connected_gene': 'THNSL2', 'score': 629.54}, {'connected_gene': 'LOC101928347', 'score': 550.77}, {'connected_gene': 'FABP1', 'score': 17.77}]
chr2	GH02I088171	88171477	88171536	0.5	[{'connected_gene': 'THNSL2', 'score': 550.77}, {'connected_gene': 'LOC101928347', 'score': 550.77}, {'connected_gene': 'PIR56046', 'score': 0.39}]
chr2	GH02I088177	88177161	88178303	0.2	[{'connected_gene': 'THNSL2', 'score': 0.44}, {'connected_gene': 'PIR56046', 'score': 0.44}, {'connected_gene': 'LOC101928347', 'score': 0.44}]
chr2	GH02I088212	88212199	88213211	1.06	[{'connected_gene': 'THNSL2', 'score': 23.48}, {'connected_gene': 'GC02M088230', 'score': 0.37}, {'connected_gene': 'RNY4P15', 'score': 0.37}, {'connected_gene': 'PIR44570', 'score': 0.31}]
chr2	GH02I088205	88205705	88208327	0.78	[{'connected_gene': 'THNSL2', 'score': 11.56}, {'connected_gene': 'PIR44570', 'score': 0.34}, {'connected_gene': 'GC02M088230', 'score': 0.34}, {'connected_gene': 'RNY4P15', 'score': 0.34}]
chr2	GH02I088024	88024326	88024910	0.38	[{'connected_gene': 'KRCC1', 'score': 11.78}, {'connected_gene': 'THNSL2', 'score': 10.62}, {'connected_gene': 'PIR45221', 'score': 0.77}, {'connected_gene': 'LOC105374852', 'score': 0.44}]
chr2	GH02I088053	88053973	88057116	2.3	[{'connected_gene': 'KRCC1', 'score': 556.72}, {'connected_gene': 'THNSL2', 'score': 15.48}, {'connected_gene': 'LOC102724642', 'score': 15.21}, {'connected_gene': 'LOC730268', 'score': 10.68}, {'connected_gene': 'GC02M088051', 'score': 0.39}, {'connected_gene': 'PIR45221', 'score': 0.31}]
chr2	GH02I088855	88855197	88863017	1.27	[{'connected_gene': 'IGKC', 'score': 550.77}, {'connected_gene': 'GC02M088842', 'score': 550.77}, {'connected_gene': 'IGKJ5', 'score': 550.77}, {'connected_gene': 'IGKJ4', 'score': 550.77}, {'connected_gene': 'IGKV1-13', 'score': 5.87}, {'connected_gene': 'THNSL2', 'score': 5.75}, {'connected_gene': 'RPIA', 'score': 5.35}, {'connected_gene': 'IGKV4-1', 'score': 4.92}, {'connected_gene': 'EIF2AK3', 'score': 3.04}, {'connected_gene': 'IGKJ2', 'score': 0.77}, {'connected_gene': 'IGKJ1', 'score': 0.77}, {'connected_gene': 'IGKJ3', 'score': 0.77}, {'connected_gene': 'ENSG00000240040', 'score': 0.77}]
chr2	GH02I088125	88125626	88132346	1.64	[{'connected_gene': 'FABP1', 'score': 586.12}, {'connected_gene': 'THNSL2', 'score': 33.84}, {'connected_gene': 'KRCC1', 'score': 9.87}, {'connected_gene': 'GC02P088146', 'score': 0.37}]
chr2	GH02I088074	88074255	88075673	0.97	[{'connected_gene': 'FABP1', 'score': 15.88}, {'connected_gene': 'THNSL2', 'score': 11.41}, {'connected_gene': 'SMYD1', 'score': 4.43}, {'connected_gene': 'MIR4780', 'score': 0.44}]
chr2	GH02I088066	88066229	88069832	1.13	[{'connected_gene': 'SMYD1', 'score': 556.94}, {'connected_gene': 'GC02M088051', 'score': 550.77}, {'connected_gene': 'FABP1', 'score': 11.56}, {'connected_gene': 'THNSL2', 'score': 11.41}, {'connected_gene': 'MIR4780', 'score': 0.39}]
chr2	GH02I088415	88415396	88417267	0.38	[{'connected_gene': 'RNU6-1007P', 'score': 550.77}, {'connected_gene': 'LOC101928371', 'score': 10.28}, {'connected_gene': 'THNSL2', 'score': 6.11}, {'connected_gene': 'ENSG00000224291', 'score': 0.39}]
chr2	GH02I088015	88015468	88017946	1.58	[{'connected_gene': 'RNU2-63P', 'score': 550.77}, {'connected_gene': 'LOC105374852', 'score': 550.77}, {'connected_gene': 'LOC102724642', 'score': 65.75}, {'connected_gene': 'LOC730268', 'score': 41.85}, {'connected_gene': 'ENSG00000231259', 'score': 36.24}, {'connected_gene': 'LOC100420889', 'score': 34.91}, {'connected_gene': 'RPIA', 'score': 19.32}, {'connected_gene': 'KRCC1', 'score': 15.47}, {'connected_gene': 'EIF2AK3', 'score': 11.22}, {'connected_gene': 'THNSL2', 'score': 10.67}]
chr2	GH02I088144	88144086	88147117	0.89	[{'connected_gene': 'GC02P088146', 'score': 550.77}, {'connected_gene': 'THNSL2', 'score': 38.08}, {'connected_gene': 'FABP1', 'score': 20.04}, {'connected_gene': 'KRCC1', 'score': 11.09}, {'connected_gene': 'LOC101928347', 'score': 0.34}]
chr2	GH02I088027	88027601	88028513	0.51	[{'connected_gene': 'PIR45221', 'score': 550.77}, {'connected_gene': 'KRCC1', 'score': 11.69}, {'connected_gene': 'THNSL2', 'score': 11.21}, {'connected_gene': 'LOC105374852', 'score': 0.39}]

Transcript ID	Transcript exon region	Coding exon region
ENST00000402102	[[88469834, 88469975], [88472657, 88472892], [88474157, 88474352], [88474767, 88474920], [88478301, 88478532], [88482217, 88482366], [88482466, 88482592], [88485069, 88485210]]	[[88472669, 88472892], [88474157, 88474352], [88474767, 88474920], [88478301, 88478532], [88482217, 88482366], [88482466, 88482592], [88485069, 88485210]]
ENST00000377254	[[88469834, 88469975], [88472657, 88472892], [88474157, 88474352], [88474767, 88474920], [88478301, 88478532], [88482217, 88482366], [88482466, 88482592], [88485416, 88486145]]	[[88472669, 88472892], [88474157, 88474352], [88474767, 88474920], [88478301, 88478532], [88482217, 88482366], [88482466, 88482592], [88485416, 88485494]]
ENST00000358591	[[88469834, 88469975], [88472657, 88472892], [88474157, 88474352], [88474767, 88474920], [88478301, 88478532], [88482217, 88482366], [88482466, 88482592], [88484846, 88484998], [88485416, 88486145]]	[[88472669, 88472892], [88474157, 88474352], [88474767, 88474920], [88478301, 88478532], [88482217, 88482366], [88482466, 88482592], [88484846, 88484998], [88485416, 88485642]]
ENST00000419759	[[88469871, 88469975], [88470745, 88470826], [88472657, 88472892], [88474157, 88474314]]	[[88472669, 88472892], [88474157, 88474314]]
ENST00000449349	[[88469871, 88469975], [88470745, 88470826], [88472769, 88472892], [88474157, 88474352], [88474767, 88474920], [88478301, 88478532], [88485416, 88486145]]	[[88470822, 88470826], [88472769, 88472892], [88474157, 88474352], [88474767, 88474920], [88478301, 88478532], [88485416, 88485487]]
ENST00000343544	[[88469916, 88469975], [88472657, 88472892], [88474157, 88474352], [88474767, 88474920], [88478301, 88478532], [88482217, 88482366], [88482466, 88482592], [88485069, 88485243], [88485416, 88486146]]	[[88472669, 88472892], [88474157, 88474352], [88474767, 88474920], [88478301, 88478532], [88482217, 88482366], [88482466, 88482592], [88485069, 88485210]]
ENST00000324166	[[88470978, 88472892], [88474157, 88474352], [88474767, 88474920], [88478301, 88478532], [88482217, 88482366], [88482466, 88482592], [88484846, 88484998], [88485416, 88486145]]	[[88472669, 88472892], [88474157, 88474352], [88474767, 88474920], [88478301, 88478532], [88482217, 88482366], [88482466, 88482592], [88484846, 88484998], [88485416, 88485642]]
ENST00000475910	[[88472791, 88472892], [88474157, 88474352], [88474767, 88476660]]	None
ENST00000496844	[[88474326, 88474352], [88474767, 88474920], [88478301, 88478532], [88482217, 88482366], [88482466, 88482592], [88485416, 88485837]]	None
ENST00000476349	[[88478468, 88478532], [88482217, 88482366], [88482466, 88482976]]	None
ENST00000464022	[[88482073, 88482366], [88482466, 88482596]]	None
ENST00000496165	[[88482215, 88482366], [88482466, 88482592], [88483239, 88483326]]	None
NM_001244678	[[88469813, 88469975], [88474767, 88474920], [88478301, 88478532], [88482217, 88482366], [88482466, 88482592], [88485416, 88486156]]	[[88474823, 88474920], [88478301, 88478532], [88482217, 88482366], [88482466, 88482592], [88485416, 88485494]]
NM_001244676	[[88469813, 88469975], [88472657, 88472892], [88474157, 88474352], [88474767, 88474920], [88478301, 88478532], [88482217, 88482366], [88482466, 88482592], [88485069, 88485243], [88485416, 88486156]]	[[88472669, 88472892], [88474157, 88474352], [88474767, 88474920], [88478301, 88478532], [88482217, 88482366], [88482466, 88482592], [88485069, 88485210]]
NM_018271	[[88472657, 88472892], [88474157, 88474352], [88474767, 88474920], [88478301, 88478532], [88482217, 88482366], [88482466, 88482592], [88484846, 88484998], [88485416, 88486156]]	[[88472669, 88472892], [88474157, 88474352], [88474767, 88474920], [88478301, 88478532], [88482217, 88482366], [88482466, 88482592], [88484846, 88484998], [88485416, 88485642]]