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
ENST00000413292	[[64685024, 64685112], [64685739, 64685821], [64690456, 64690574], [64691657, 64691932]]	None
ENST00000526559	[[64685070, 64685112], [64692942, 64693405], [64694183, 64694380], [64695273, 64695375], [64695537, 64695620]]	[[64693206, 64693405], [64694183, 64694380], [64695273, 64695375], [64695537, 64695620]]
ENST00000164133	[[64692142, 64692500], [64692942, 64693405], [64694183, 64694380], [64695273, 64695375], [64695537, 64695630], [64695766, 64695897], [64697793, 64697853], [64697952, 64698061], [64698907, 64698961], [64699030, 64699081], [64699220, 64699340], [64700236, 64700364], [64700616, 64700718], [64701168, 64701945]]	[[64693206, 64693405], [64694183, 64694380], [64695273, 64695375], [64695537, 64695630], [64695766, 64695897], [64697793, 64697853], [64697952, 64698061], [64698907, 64698961], [64699030, 64699081], [64699220, 64699340], [64700236, 64700364], [64700616, 64700718], [64701168, 64701316]]
ENST00000532850	[[64692192, 64692500], [64693319, 64693405], [64694183, 64694380], [64695273, 64695375], [64695537, 64695630]]	[[64694242, 64694380], [64695273, 64695375], [64695537, 64695630]]
ENST00000528530	[[64695205, 64695375], [64695537, 64695630], [64695766, 64695897], [64697793, 64697806]]	None
NM_006244	[[64692142, 64692500], [64692942, 64693405], [64694183, 64694380], [64695273, 64695375], [64695537, 64695630], [64695766, 64695897], [64697793, 64697853], [64697952, 64698061], [64698907, 64698961], [64699030, 64699081], [64699220, 64699340], [64700236, 64700364], [64700616, 64700718], [64701168, 64701950]]	[[64693206, 64693405], [64694183, 64694380], [64695273, 64695375], [64695537, 64695630], [64695766, 64695897], [64697793, 64697853], [64697952, 64698061], [64698907, 64698961], [64699030, 64699081], [64699220, 64699340], [64700236, 64700364], [64700616, 64700718], [64701168, 64701316]]

Promoter

Chrom	Start	End	Description
chr11	64685026	64685046	CAGE_peak_2_at_PPP2R5B_5end
chr11	64692145	64692202	CAGE_peak_1_at_PPP2R5B_5end
chr11	64692217	64692228	CAGE_peak_4_at_PPP2R5B_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr11	GH11I064267	64267086	64274313	1.82	[{'connected_gene': 'GPR137', 'score': 550.77}, {'connected_gene': 'ZFPL1', 'score': 34.68}, {'connected_gene': 'SF1', 'score': 32.9}, {'connected_gene': 'POLA2', 'score': 32.78}, {'connected_gene': 'PLCB3', 'score': 27.53}, {'connected_gene': 'TRMT112', 'score': 23.09}, {'connected_gene': 'DNAJC4', 'score': 21.3}, {'connected_gene': 'ENSG00000257086', 'score': 20.68}, {'connected_gene': 'FAU', 'score': 20.2}, {'connected_gene': 'LOC102723878', 'score': 19.24}, {'connected_gene': 'TRPT1', 'score': 17.08}, {'connected_gene': 'NAALADL1', 'score': 15.12}, {'connected_gene': 'NRXN2', 'score': 13.07}, {'connected_gene': 'KCNK4', 'score': 12.91}, {'connected_gene': 'SPINDOC', 'score': 12.7}, {'connected_gene': 'ATL3', 'score': 12.19}, {'connected_gene': 'ESRRA', 'score': 11.38}, {'connected_gene': 'ZNHIT2', 'score': 11.22}, {'connected_gene': 'RCOR2', 'score': 11.14}, {'connected_gene': 'PRDX5', 'score': 10.91}, {'connected_gene': 'PPP2R5B', 'score': 10.6}, {'connected_gene': 'C11orf95', 'score': 10.12}, {'connected_gene': 'ENSG00000231680', 'score': 9.23}, {'connected_gene': 'CCDC88B', 'score': 4.54}, {'connected_gene': 'GC11P064262', 'score': 0.44}, {'connected_gene': 'BAD', 'score': 0.39}]
chr11	GH11I064923	64923406	64925601	2.07	[{'connected_gene': 'PPP2R5B', 'score': 550.44}, {'connected_gene': 'MIR192', 'score': 11.98}, {'connected_gene': 'ARL2', 'score': 7.87}, {'connected_gene': 'GPHA2', 'score': 0.39}]
chr11	GH11I065414	65414759	65433603	2.43	[{'connected_gene': 'NEAT1', 'score': 621.1}, {'connected_gene': 'ENSG00000278050', 'score': 550.77}, {'connected_gene': 'ENSG00000278144', 'score': 550.77}, {'connected_gene': 'ENSG00000277599', 'score': 550.77}, {'connected_gene': 'GC11P065529', 'score': 550.77}, {'connected_gene': 'SF1', 'score': 122.53}, {'connected_gene': 'ZFPL1', 'score': 104.38}, {'connected_gene': 'EIF1AD', 'score': 100.29}, {'connected_gene': 'POLA2', 'score': 94.05}, {'connected_gene': 'PCNX3', 'score': 92.79}, {'connected_gene': 'LOC105369352', 'score': 88.99}, {'connected_gene': 'MUS81', 'score': 79.86}, {'connected_gene': 'KAT5', 'score': 78.49}, {'connected_gene': 'SART1', 'score': 75.75}, {'connected_gene': 'RELA', 'score': 67.36}, {'connected_gene': 'ENSG00000255320', 'score': 67.33}, {'connected_gene': 'ENSG00000245156', 'score': 61.64}, {'connected_gene': 'ENSG00000254461', 'score': 57.96}, {'connected_gene': 'FRMD8', 'score': 50.93}, {'connected_gene': 'SF3B2', 'score': 50.6}, {'connected_gene': 'FAU', 'score': 48.27}, {'connected_gene': 'ENSG00000255038', 'score': 46.75}, {'connected_gene': 'SCYL1', 'score': 40.16}, {'connected_gene': 'NAALADL1', 'score': 32.4}, {'connected_gene': 'SSSCA1', 'score': 28.83}, {'connected_gene': 'ATG2A', 'score': 26.83}, {'connected_gene': 'ZNHIT2', 'score': 25.36}, {'connected_gene': 'SYVN1', 'score': 22.96}, {'connected_gene': 'ENSG00000269038', 'score': 22.26}, {'connected_gene': 'SSSCA1-AS1', 'score': 21.88}, {'connected_gene': 'RNASEH2C', 'score': 21.88}, {'connected_gene': 'RAB1B', 'score': 21.84}, {'connected_gene': 'MEN1', 'score': 20.75}, {'connected_gene': 'DPF2', 'score': 19.76}, {'connected_gene': 'MAP3K11', 'score': 18.69}, {'connected_gene': 'AP5B1', 'score': 18.38}, {'connected_gene': 'B4GAT1', 'score': 14.91}, {'connected_gene': 'VPS51', 'score': 13.42}, {'connected_gene': 'NRXN2', 'score': 13.05}, {'connected_gene': 'KLC2', 'score': 12.4}, {'connected_gene': 'EHBP1L1', 'score': 12.35}, {'connected_gene': 'BRMS1', 'score': 11.93}, {'connected_gene': 'SIPA1', 'score': 11.4}, {'connected_gene': 'SAC3D1', 'score': 10.99}, {'connected_gene': 'PPP2R5B', 'score': 10.6}, {'connected_gene': 'LTBP3', 'score': 10.1}, {'connected_gene': 'MALAT1', 'score': 10.08}, {'connected_gene': 'MRPL49', 'score': 10.07}, {'connected_gene': 'SNX32', 'score': 9.8}, {'connected_gene': 'CD248', 'score': 9.73}, {'connected_gene': 'TIGD3', 'score': 9.56}, {'connected_gene': 'BATF2', 'score': 9.28}, {'connected_gene': 'KCNK7', 'score': 6.66}, {'connected_gene': 'KRT8P26', 'score': 4.82}, {'connected_gene': 'CDC42EP2', 'score': 4.67}, {'connected_gene': 'ARL2', 'score': 4.59}, {'connected_gene': 'LOC101927789', 'score': 4.54}, {'connected_gene': 'TSGA10IP', 'score': 3.92}, {'connected_gene': 'SLC25A45', 'score': 2.61}, {'connected_gene': 'GC11P065418', 'score': 0.44}, {'connected_gene': 'GC11P065531', 'score': 0.37}]
chr11	GH11I064970	64970229	64972698	1.76	[{'connected_gene': 'MAJIN', 'score': 555.38}, {'connected_gene': 'ARL2', 'score': 20.54}, {'connected_gene': 'GPHA2', 'score': 15.43}, {'connected_gene': 'SSSCA1-AS1', 'score': 12.72}, {'connected_gene': 'SNX15', 'score': 11.55}, {'connected_gene': 'RNASEH2C', 'score': 11.33}, {'connected_gene': 'EHD1', 'score': 10.88}, {'connected_gene': 'ENSG00000269038', 'score': 10.28}, {'connected_gene': 'MEN1', 'score': 10.25}, {'connected_gene': 'TRMT112', 'score': 9.93}, {'connected_gene': 'EEF1A1P18', 'score': 6.05}, {'connected_gene': 'CCDC88B', 'score': 5.66}, {'connected_gene': 'PPP2R5B', 'score': 5.39}, {'connected_gene': 'CAPN1', 'score': 4.4}]
chr11	GH11I064914	64914920	64919174	2.06	[{'connected_gene': 'ATG2A', 'score': 550.77}, {'connected_gene': 'PPP2R5B', 'score': 550.77}, {'connected_gene': 'MEN1', 'score': 13.37}, {'connected_gene': 'SSSCA1-AS1', 'score': 12.72}, {'connected_gene': 'ZFPL1', 'score': 12.6}, {'connected_gene': 'TRMT112', 'score': 11.14}, {'connected_gene': 'PCNX3', 'score': 10.35}, {'connected_gene': 'SF1', 'score': 10.2}, {'connected_gene': 'ENSG00000257086', 'score': 9.98}, {'connected_gene': 'RNASEH2C', 'score': 9.91}, {'connected_gene': 'SPDYC', 'score': 6.51}, {'connected_gene': 'ARL2', 'score': 5.16}, {'connected_gene': 'GPHA2', 'score': 4.52}, {'connected_gene': 'POLA2', 'score': 4.21}, {'connected_gene': 'MIR6749', 'score': 0.39}]
chr11	GH11I064934	64934829	64936203	1.48	[{'connected_gene': 'GPHA2', 'score': 555.3}, {'connected_gene': 'BATF2', 'score': 4.5}, {'connected_gene': 'PPP2R5B', 'score': 0.37}]