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
ENST00000283646	[[88991161, 88991501], [88998001, 88998062], [88999526, 88999582], [89028795, 89028855], [89034068, 89034133], [89035185, 89035254], [89036051, 89036193], [89037493, 89037593], [89049497, 89050452]]	[[88991216, 88991501], [88998001, 88998062], [88999526, 88999582], [89028795, 89028855], [89034068, 89034133], [89035185, 89035254], [89036051, 89036193], [89037493, 89037593], [89049497, 89049595]]
NM_144563	[[88991175, 88991501], [88998001, 88998062], [88999526, 88999582], [89028795, 89028855], [89034068, 89034133], [89035185, 89035254], [89036051, 89036193], [89037493, 89037593], [89049497, 89050452]]	[[88991216, 88991501], [88998001, 88998062], [88999526, 88999582], [89028795, 89028855], [89034068, 89034133], [89035185, 89035254], [89036051, 89036193], [89037493, 89037593], [89049497, 89049595]]

Promoter

Chrom	Start	End	Description
chr2	88991165	88991216	CAGE_peak_1_at_RPIA_5end
chr2	88991220	88991257	CAGE_peak_3_at_RPIA_5end
chr2	88991299	88991318	CAGE_peak_5_at_RPIA_5end
chr2	88991321	88991342	CAGE_peak_4_at_RPIA_5end
chr2	88991347	88991367	CAGE_peak_2_at_RPIA_5end
chr2	88991383	88991387	CAGE_peak_9_at_RPIA_5end
chr2	89034875	89034897	CAGE_peak_8_at_RPIA_5end
chr2	89034921	89034930	CAGE_peak_10_at_RPIA_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I088835	88835554	88849631	1.08	[{'connected_gene': 'EIF2AK3', 'score': 9.43}, {'connected_gene': 'ANKRD36BP2', 'score': 7.66}, {'connected_gene': 'IGKV1-13', 'score': 6.73}, {'connected_gene': 'RPIA', 'score': 5.49}, {'connected_gene': 'LOC101928403', 'score': 4.81}, {'connected_gene': 'IGKDEL', 'score': 0.44}, {'connected_gene': 'IGKC', 'score': 0.37}, {'connected_gene': 'GC02M088842', 'score': 0.37}, {'connected_gene': 'ENSG00000240040', 'score': 0.37}]
chr2	GH02I088598	88598893	88603399	1.72	[{'connected_gene': 'EIF2AK3', 'score': 13.14}, {'connected_gene': 'LOC101928403', 'score': 12.66}, {'connected_gene': 'RPIA', 'score': 11.25}, {'connected_gene': 'ANKRD36BP2', 'score': 4.45}, {'connected_gene': 'GC02P088558', 'score': 0.26}]
chr2	GH02I088605	88605321	88610258	0.95	[{'connected_gene': 'ANKRD36BP2', 'score': 13.35}, {'connected_gene': 'RPIA', 'score': 11.08}, {'connected_gene': 'TEX37', 'score': 8.86}, {'connected_gene': 'EIF2AK3', 'score': 4.57}, {'connected_gene': 'LOC101928403', 'score': 0.37}, {'connected_gene': 'GC02P088558', 'score': 0.25}]
chr2	GH02I088827	88827421	88829195	0.58	[{'connected_gene': 'ANKRD36BP2', 'score': 8.81}, {'connected_gene': 'RPIA', 'score': 6.69}, {'connected_gene': 'LOC105374855', 'score': 0.77}, {'connected_gene': 'IGKDEL', 'score': 0.44}, {'connected_gene': 'LOC105374854', 'score': 0.39}, {'connected_gene': 'ENSG00000240040', 'score': 0.29}]
chr2	GH02I088693	88693534	88694730	0.51	[{'connected_gene': 'ANKRD36BP2', 'score': 11.59}, {'connected_gene': 'RPIA', 'score': 0.77}, {'connected_gene': 'LOC105374853', 'score': 0.31}]
chr2	GH02I088697	88697163	88700205	0.66	[{'connected_gene': 'ANKRD36BP2', 'score': 11.61}, {'connected_gene': 'RPIA', 'score': 0.44}, {'connected_gene': 'LOC105374853', 'score': 0.31}]
chr2	GH02I088740	88740084	88740293	0.85	[{'connected_gene': 'ANKRD36BP2', 'score': 11.71}, {'connected_gene': 'GC02P088737', 'score': 0.77}, {'connected_gene': 'RPIA', 'score': 0.25}]
chr2	GH02I088729	88729463	88729612	0.31	[{'connected_gene': 'ANKRD36BP2', 'score': 11.68}, {'connected_gene': 'LOC105374853', 'score': 0.44}, {'connected_gene': 'GC02P088737', 'score': 0.44}, {'connected_gene': 'RPIA', 'score': 0.28}]
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	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	GH02I088614	88614161	88616420	1.17	[{'connected_gene': 'RPIA', 'score': 11.4}, {'connected_gene': 'EIF2AK3', 'score': 1.71}, {'connected_gene': 'LOC101928403', 'score': 0.39}, {'connected_gene': 'GC02P088558', 'score': 0.22}]
chr2	GH02I088603	88603637	88604868	0.2	[{'connected_gene': 'RPIA', 'score': 11.26}, {'connected_gene': 'ANKRD36BP2', 'score': 4.45}, {'connected_gene': 'EIF2AK3', 'score': 0.34}, {'connected_gene': 'LOC101928403', 'score': 0.34}, {'connected_gene': 'GC02P088558', 'score': 0.25}]
chr2	GH02I088751	88751376	88756593	1.44	[{'connected_gene': 'RPIA', 'score': 18.57}, {'connected_gene': 'ANKRD36BP2', 'score': 11.79}, {'connected_gene': 'LOC101928403', 'score': 9.25}, {'connected_gene': 'EIF2AK3', 'score': 1.93}, {'connected_gene': 'GC02P088737', 'score': 0.37}]
chr2	GH02I088471	88471466	88472055	0.31	[{'connected_gene': 'RPIA', 'score': 4.09}, {'connected_gene': 'FOXI3', 'score': 0.37}, {'connected_gene': 'GC02M088487', 'score': 0.37}]
chr2	GH02I088879	88879965	88880954	1.04	[{'connected_gene': 'RPIA', 'score': 4.88}, {'connected_gene': 'IGKV4-1', 'score': 0.77}, {'connected_gene': 'IGKJ1', 'score': 0.37}]
chr2	GH02I088690	88690164	88693064	2.08	[{'connected_gene': 'RPIA', 'score': 558.46}, {'connected_gene': 'LOC102724805', 'score': 550.77}, {'connected_gene': 'ANKRD36BP2', 'score': 20.81}, {'connected_gene': 'TEX37', 'score': 4.92}, {'connected_gene': 'EIF2AK3', 'score': 3.98}]
chr2	GH02I088617	88617495	88619132	0.31	[{'connected_gene': 'RPIA', 'score': 11.41}, {'connected_gene': 'LOC101928403', 'score': 10.54}, {'connected_gene': 'EIF2AK3', 'score': 0.44}, {'connected_gene': 'GC02P088558', 'score': 0.22}]
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	GH02I088708	88708506	88710062	0.2	[{'connected_gene': 'LOC105374853', 'score': 0.39}, {'connected_gene': 'RPIA', 'score': 0.37}]
chr2	GH02I088625	88625800	88629643	2.3	[{'connected_gene': 'LOC101928403', 'score': 563.1}, {'connected_gene': 'EIF2AK3', 'score': 550.77}, {'connected_gene': 'LOC730268', 'score': 23.04}, {'connected_gene': 'RPIA', 'score': 20.48}, {'connected_gene': 'TEX37', 'score': 8.63}, {'connected_gene': 'ANKRD36BP2', 'score': 4.48}, {'connected_gene': 'GC02M088650', 'score': 0.34}]
chr2	GH02I088736	88736360	88738546	0.62	[{'connected_gene': 'GC02P088737', 'score': 550.77}, {'connected_gene': 'ANKRD36BP2', 'score': 11.71}, {'connected_gene': 'LOC105374853', 'score': 0.39}, {'connected_gene': 'RPIA', 'score': 0.25}]
chr2	GH02I088882	88882755	88886974	0.38	[{'connected_gene': 'GC02P088887', 'score': 550.77}, {'connected_gene': 'IGKV4-1', 'score': 550.77}, {'connected_gene': 'GC02P088888', 'score': 550.77}, {'connected_gene': 'RPIA', 'score': 5.23}, {'connected_gene': 'IGKV1-17', 'score': 4.28}, {'connected_gene': 'IGKJ1', 'score': 0.34}]
chr2	GH02I088735	88735984	88736153	0.67	[{'connected_gene': 'GC02P088737', 'score': 550.77}, {'connected_gene': 'LOC105374853', 'score': 0.39}, {'connected_gene': 'RPIA', 'score': 0.26}]