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
ENST00000342480	[[127348023, 127348132], [127358087, 127358366], [127379220, 127380002], [127381079, 127381154], [127387283, 127387440], [127387983, 127388045], [127390276, 127390456], [127391110, 127391652]]	[[127348062, 127348132], [127358087, 127358366], [127379220, 127380002], [127381079, 127381154], [127387283, 127387440], [127387983, 127388045], [127390276, 127390456], [127391110, 127391323]]
NM_015720	[[127348001, 127348132], [127358087, 127358366], [127379220, 127380002], [127381079, 127381154], [127387283, 127387440], [127387983, 127388045], [127390276, 127390456], [127391110, 127391653]]	[[127348062, 127348132], [127358087, 127358366], [127379220, 127380002], [127381079, 127381154], [127387283, 127387440], [127387983, 127388045], [127390276, 127390456], [127391110, 127391323]]

Promoter

Chrom	Start	End	Description
chr3	127347988	127348000	CAGE_peak_2_at_PODXL2_5end
chr3	127348005	127348063	CAGE_peak_1_at_PODXL2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr3	GH03I127847	127847146	127850363	0.54	[{'connected_gene': 'ABTB1', 'score': 11.15}, {'connected_gene': 'PODXL2', 'score': 10.14}, {'connected_gene': 'MCM2', 'score': 10.0}, {'connected_gene': 'TPRA1', 'score': 10.0}, {'connected_gene': 'LOC105374096', 'score': 0.44}, {'connected_gene': 'GC03M127760', 'score': 0.39}]
chr3	GH03I127671	127671500	127674261	2.08	[{'connected_gene': 'ABTB1', 'score': 559.69}, {'connected_gene': 'GC03P127673', 'score': 550.77}, {'connected_gene': 'GC03P127674', 'score': 550.77}, {'connected_gene': 'TPRA1', 'score': 12.46}, {'connected_gene': 'PODXL2', 'score': 10.51}]
chr3	GH03I127652	127652258	127652407	0.64	[{'connected_gene': 'PODXL2', 'score': 12.29}, {'connected_gene': 'ABTB1', 'score': 12.26}, {'connected_gene': 'MCM2', 'score': 11.22}, {'connected_gene': 'TPRA1', 'score': 11.22}, {'connected_gene': 'GC03P127673', 'score': 0.34}, {'connected_gene': 'GC03P127674', 'score': 0.34}]
chr3	GH03I127737	127737846	127739800	0.99	[{'connected_gene': 'PODXL2', 'score': 11.17}, {'connected_gene': 'ABTB1', 'score': 0.2}, {'connected_gene': 'MGLL', 'score': 0.18}]
chr3	GH03I127740	127740566	127741638	0.31	[{'connected_gene': 'PODXL2', 'score': 11.16}, {'connected_gene': 'ABTB1', 'score': 0.2}, {'connected_gene': 'MGLL', 'score': 0.18}]
chr3	GH03I127717	127717025	127717937	0.31	[{'connected_gene': 'PODXL2', 'score': 10.8}, {'connected_gene': 'ABTB1', 'score': 0.26}, {'connected_gene': 'MGLL', 'score': 0.14}]
chr3	GH03I127718	127718018	127718167	0.51	[{'connected_gene': 'PODXL2', 'score': 10.8}, {'connected_gene': 'ABTB1', 'score': 0.25}, {'connected_gene': 'MGLL', 'score': 0.14}]
chr3	GH03I127629	127629000	127629601	1.91	[{'connected_gene': 'PODXL2', 'score': 550.77}, {'connected_gene': 'EEFSEC', 'score': 12.95}, {'connected_gene': 'RUVBL1', 'score': 10.2}, {'connected_gene': 'MCM2', 'score': 10.2}, {'connected_gene': 'GC03P127673', 'score': 0.26}, {'connected_gene': 'GC03P127674', 'score': 0.26}]
chr3	GH03I127683	127683401	127684067	0.76	[{'connected_gene': 'PODXL2', 'score': 11.67}, {'connected_gene': 'MCM2', 'score': 10.58}, {'connected_gene': 'TPRA1', 'score': 10.58}, {'connected_gene': 'ABTB1', 'score': 4.72}, {'connected_gene': 'MGLL', 'score': 0.12}]
chr3	GH03I127764	127764972	127766475	0.63	[{'connected_gene': 'PODXL2', 'score': 10.4}, {'connected_gene': 'MCM2', 'score': 10.27}, {'connected_gene': 'TPRA1', 'score': 10.27}, {'connected_gene': 'MGLL', 'score': 8.65}, {'connected_gene': 'GC03M127760', 'score': 0.2}, {'connected_gene': 'ABTB1', 'score': 0.16}]
chr3	GH03I127655	127655800	127656001	0.54	[{'connected_gene': 'PODXL2', 'score': 12.26}, {'connected_gene': 'MCM2', 'score': 11.21}, {'connected_gene': 'TPRA1', 'score': 11.21}, {'connected_gene': 'GC03P127673', 'score': 0.37}, {'connected_gene': 'GC03P127674', 'score': 0.37}]
chr3	GH03I127688	127688107	127692079	1.06	[{'connected_gene': 'PODXL2', 'score': 20.97}, {'connected_gene': 'TPRA1', 'score': 9.31}, {'connected_gene': 'ABTB1', 'score': 4.84}, {'connected_gene': 'MGLL', 'score': 0.12}]
chr3	GH03I127686	127686150	127687040	0.52	[{'connected_gene': 'PODXL2', 'score': 18.93}, {'connected_gene': 'MGLL', 'score': 1.33}, {'connected_gene': 'ABTB1', 'score': 0.39}]
chr3	GH03I127753	127753433	127756579	1.51	[{'connected_gene': 'PODXL2', 'score': 5.05}, {'connected_gene': 'MGLL', 'score': 4.87}, {'connected_gene': 'TPRA1', 'score': 3.36}, {'connected_gene': 'ABTB1', 'score': 0.18}]
chr3	GH03I127637	127637658	127637867	0.38	[{'connected_gene': 'MCM2', 'score': 11.46}, {'connected_gene': 'TPRA1', 'score': 11.46}, {'connected_gene': 'ABTB1', 'score': 11.13}, {'connected_gene': 'PODXL2', 'score': 0.44}, {'connected_gene': 'GC03P127673', 'score': 0.29}, {'connected_gene': 'GC03P127674', 'score': 0.29}]
chr3	GH03I127639	127639120	127640310	0.31	[{'connected_gene': 'MCM2', 'score': 11.07}, {'connected_gene': 'TPRA1', 'score': 11.07}, {'connected_gene': 'PODXL2', 'score': 0.39}, {'connected_gene': 'GC03P127673', 'score': 0.29}, {'connected_gene': 'GC03P127674', 'score': 0.29}]
chr3	GH03I127600	127600284	127601065	0.43	[{'connected_gene': 'MCM2', 'score': 0.77}, {'connected_gene': 'TPRA1', 'score': 0.77}, {'connected_gene': 'PODXL2', 'score': 0.31}]
chr3	GH03I127910	127910699	127912129	0.4	[{'connected_gene': 'MCM2', 'score': 10.2}, {'connected_gene': 'TPRA1', 'score': 10.2}, {'connected_gene': 'KBTBD12', 'score': 10.07}, {'connected_gene': 'PODXL2', 'score': 9.84}, {'connected_gene': 'GC03P127895', 'score': 0.37}]
chr3	GH03I127766	127766999	127779089	1.57	[{'connected_gene': 'MCM2', 'score': 15.21}, {'connected_gene': 'TPRA1', 'score': 13.82}, {'connected_gene': 'MGLL', 'score': 11.36}, {'connected_gene': 'ABTB1', 'score': 11.2}, {'connected_gene': 'PODXL2', 'score': 10.84}, {'connected_gene': 'GC03M127760', 'score': 0.21}]
chr3	GH03I128058	128058656	128063041	0.66	[{'connected_gene': 'SEC61A1', 'score': 13.46}, {'connected_gene': 'RNU6-823P', 'score': 10.55}, {'connected_gene': 'PODXL2', 'score': 9.6}, {'connected_gene': 'EEFSEC', 'score': 7.21}, {'connected_gene': 'ACAD9', 'score': 4.19}, {'connected_gene': 'LOC102723759', 'score': 0.44}, {'connected_gene': 'GC03M128076', 'score': 0.39}, {'connected_gene': 'RNU2-37P', 'score': 0.39}]
chr3	GH03I128086	128086762	128087812	0.2	[{'connected_gene': 'SEC61A1', 'score': 13.3}, {'connected_gene': 'RNU6-823P', 'score': 10.91}, {'connected_gene': 'PODXL2', 'score': 9.43}, {'connected_gene': 'RUVBL1-AS1', 'score': 0.39}, {'connected_gene': 'PIR39032', 'score': 0.23}, {'connected_gene': 'RUVBL1', 'score': 0.2}]
chr3	GH03I127666	127666331	127668116	0.31	[{'connected_gene': 'TPRA1', 'score': 12.45}, {'connected_gene': 'ABTB1', 'score': 9.43}, {'connected_gene': 'GC03P127673', 'score': 0.44}, {'connected_gene': 'GC03P127674', 'score': 0.44}, {'connected_gene': 'PODXL2', 'score': 0.28}]
chr3	GH03I127677	127677041	127679695	0.56	[{'connected_gene': 'TPRA1', 'score': 10.31}, {'connected_gene': 'PODXL2', 'score': 10.29}, {'connected_gene': 'ABTB1', 'score': 9.36}, {'connected_gene': 'MGLL', 'score': 0.11}]
chr3	GH03I127588	127588658	127593397	2.24	[{'connected_gene': 'TPRA1', 'score': 569.29}, {'connected_gene': 'PIR40762', 'score': 550.77}, {'connected_gene': 'PODXL2', 'score': 18.86}, {'connected_gene': 'ABTB1', 'score': 9.28}, {'connected_gene': 'MIR7976', 'score': 0.77}]
chr3	GH03I127719	127719838	127726251	0.57	[{'connected_gene': 'TPRA1', 'score': 19.36}, {'connected_gene': 'PODXL2', 'score': 10.79}, {'connected_gene': 'EEFSEC', 'score': 10.32}, {'connected_gene': 'ABTB1', 'score': 0.23}, {'connected_gene': 'MGLL', 'score': 0.15}]
chr3	GH03I127546	127546691	127548612	1.28	[{'connected_gene': 'TPRA1', 'score': 8.54}, {'connected_gene': 'PODXL2', 'score': 4.3}, {'connected_gene': 'KBTBD12', 'score': 1.83}, {'connected_gene': 'LINC02034', 'score': 0.44}, {'connected_gene': 'ENSG00000282860', 'score': 0.34}]
chr3	GH03I127597	127597201	127599908	2.43	[{'connected_gene': 'TPRA1', 'score': 577.07}, {'connected_gene': 'MCM2', 'score': 550.77}, {'connected_gene': 'PODXL2', 'score': 0.29}]
chr3	GH03I127888	127888291	127891480	1.41	[{'connected_gene': 'TPRA1', 'score': 24.52}, {'connected_gene': 'KBTBD12', 'score': 11.87}, {'connected_gene': 'PODXL2', 'score': 9.97}, {'connected_gene': 'GC03P127885', 'score': 0.77}, {'connected_gene': 'GC03P127895', 'score': 0.44}]
chr3	GH03I127574	127574578	127575837	1.01	[{'connected_gene': 'MIR6825', 'score': 550.77}, {'connected_gene': 'MCM2', 'score': 12.02}, {'connected_gene': 'TPRA1', 'score': 12.02}, {'connected_gene': 'PODXL2', 'score': 11.32}, {'connected_gene': 'ENSG00000282860', 'score': 0.77}]
chr3	GH03I127586	127585198	127585347	0.63	[{'connected_gene': 'MIR7976', 'score': 550.77}, {'connected_gene': 'ABTB1', 'score': 11.25}, {'connected_gene': 'PODXL2', 'score': 11.12}, {'connected_gene': 'MIR6825', 'score': 0.44}, {'connected_gene': 'TPRA1', 'score': 0.39}]
chr3	GH03I127585	127585378	127585527	0.6	[{'connected_gene': 'MIR7976', 'score': 550.77}, {'connected_gene': 'ABTB1', 'score': 11.25}, {'connected_gene': 'PODXL2', 'score': 11.12}, {'connected_gene': 'MIR6825', 'score': 0.39}, {'connected_gene': 'TPRA1', 'score': 0.39}]
chr3	GH03I127886	127886890	127887086	0.2	[{'connected_gene': 'GC03P127885', 'score': 550.77}, {'connected_gene': 'KBTBD12', 'score': 11.91}, {'connected_gene': 'PODXL2', 'score': 10.47}, {'connected_gene': 'ABTB1', 'score': 4.63}, {'connected_gene': 'GC03P127895', 'score': 0.44}]
chr3	GH03I127883	127883610	127884787	0.2	[{'connected_gene': 'GC03P127885', 'score': 550.77}, {'connected_gene': 'KBTBD12', 'score': 11.89}, {'connected_gene': 'PODXL2', 'score': 10.47}, {'connected_gene': 'LOC105374096', 'score': 0.31}]