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
ENST00000392210	[[64011955, 64012294], [64012401, 64012434], [64012675, 64012759], [64013525, 64013665]]	[[64012225, 64012294], [64012401, 64012434], [64012675, 64012711]]
ENST00000309318	[[64011955, 64012294], [64012401, 64012434], [64012675, 64012759], [64013887, 64014413]]	[[64012225, 64012294], [64012401, 64012434], [64012675, 64012759], [64013887, 64014145]]
ENST00000542235	[[64012020, 64012294], [64012401, 64012434], [64012675, 64013288]]	[[64012225, 64012294], [64012401, 64012434], [64012675, 64012792]]
NM_138689	[[64011950, 64012294], [64012401, 64012434], [64012675, 64012759], [64013887, 64014413]]	[[64012225, 64012294], [64012401, 64012434], [64012675, 64012759], [64013887, 64014145]]

Promoter

Chrom	Start	End	Description
chr11	64012815	64012824	CAGE_peak_20_at_PPP1R14B_5end
chr11	64012862	64012876	CAGE_peak_11_at_PPP1R14B_5end
chr11	64012880	64012917	CAGE_peak_4_at_PPP1R14B_5end
chr11	64013167	64013203	CAGE_peak_7_at_PPP1R14B_5end
chr11	64013207	64013233	CAGE_peak_6_at_PPP1R14B_5end
chr11	64013309	64013343	CAGE_peak_5_at_PPP1R14B_5end
chr11	64013634	64013654	CAGE_peak_14_at_PPP1R14B_5end
chr11	64013663	64013672	CAGE_peak_21_at_PPP1R14B_5end
chr11	64013702	64013719	CAGE_peak_8_at_PPP1R14B_5end
chr11	64014165	64014186	CAGE_peak_2_at_PPP1R14B_5end
chr11	64014320	64014336	CAGE_peak_3_at_PPP1R14B_5end
chr11	64014379	64014428	CAGE_peak_1_at_PPP1R14B_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr11	GH11I064354	64354689	64361259	2.72	[{'connected_gene': 'RPS6KA4', 'score': 559.68}, {'connected_gene': 'LOC102723878', 'score': 20.26}, {'connected_gene': 'PLCB3', 'score': 13.55}, {'connected_gene': 'ENSG00000231680', 'score': 6.78}, {'connected_gene': 'TRPT1', 'score': 4.82}, {'connected_gene': 'MARK2', 'score': 4.13}, {'connected_gene': 'PPP1R14B', 'score': 3.69}, {'connected_gene': 'ESRRA', 'score': 3.36}, {'connected_gene': 'PRDX5', 'score': 2.81}, {'connected_gene': 'TRMT112', 'score': 2.76}, {'connected_gene': 'BAD', 'score': 2.56}, {'connected_gene': 'NUDT22', 'score': 2.25}, {'connected_gene': 'CDC42BPG', 'score': 1.9}, {'connected_gene': 'FKBP2', 'score': 1.29}, {'connected_gene': 'GC11M064349', 'score': 0.77}, {'connected_gene': 'CCDC88B', 'score': 0.37}]
chr11	GH11I064237	64237035	64253602	2.32	[{'connected_gene': 'PPP1R14B', 'score': 572.68}, {'connected_gene': 'FKBP2', 'score': 550.77}, {'connected_gene': 'LOC105369340', 'score': 550.77}, {'connected_gene': 'PLCB3', 'score': 550.44}, {'connected_gene': 'TRPT1', 'score': 23.86}, {'connected_gene': 'LOC102723878', 'score': 22.35}, {'connected_gene': 'VEGFB', 'score': 19.71}, {'connected_gene': 'TRMT112', 'score': 17.45}, {'connected_gene': 'FERMT3', 'score': 12.7}, {'connected_gene': 'GPR137', 'score': 11.63}, {'connected_gene': 'BAD', 'score': 11.57}, {'connected_gene': 'ENSG00000257086', 'score': 6.66}, {'connected_gene': 'ENSG00000256116', 'score': 5.79}, {'connected_gene': 'FLRT1', 'score': 5.1}, {'connected_gene': 'PIR60417', 'score': 0.44}]
chr11	GH11I064215	64215169	64215258	0.49	[{'connected_gene': 'FKBP2', 'score': 12.56}, {'connected_gene': 'LOC105369340', 'score': 12.55}, {'connected_gene': 'ENSG00000257086', 'score': 12.55}, {'connected_gene': 'PPP1R14B', 'score': 12.55}, {'connected_gene': 'PLCB3', 'score': 12.53}, {'connected_gene': 'GPR137', 'score': 11.59}, {'connected_gene': 'BAD', 'score': 11.56}, {'connected_gene': 'MACROD1', 'score': 10.78}, {'connected_gene': 'FERMT3', 'score': 0.44}, {'connected_gene': 'NUDT22', 'score': 0.39}]
chr11	GH11I064874	64874247	64881311	2.28	[{'connected_gene': 'EHD1', 'score': 550.39}, {'connected_gene': 'ZFPL1', 'score': 14.57}, {'connected_gene': 'PCNX3', 'score': 13.0}, {'connected_gene': 'TRMT112', 'score': 12.21}, {'connected_gene': 'SF1', 'score': 12.04}, {'connected_gene': 'FRMD8', 'score': 11.0}, {'connected_gene': 'PLCB3', 'score': 10.83}, {'connected_gene': 'KAT5', 'score': 10.74}, {'connected_gene': 'FAU', 'score': 10.35}, {'connected_gene': 'POLA2', 'score': 10.34}, {'connected_gene': 'RELA', 'score': 9.96}, {'connected_gene': 'CDC42BPG', 'score': 6.61}, {'connected_gene': 'PPP1R14B', 'score': 4.87}, {'connected_gene': 'SNX15', 'score': 4.52}, {'connected_gene': 'RPS16P6', 'score': 0.77}]
chr11	GH11I064331	64331023	64332762	1.46	[{'connected_gene': 'GC11P064331', 'score': 550.77}, {'connected_gene': 'GC11P064330', 'score': 550.77}, {'connected_gene': 'POLA2', 'score': 48.55}, {'connected_gene': 'SF1', 'score': 43.85}, {'connected_gene': 'PLCB3', 'score': 39.14}, {'connected_gene': 'ZFPL1', 'score': 38.26}, {'connected_gene': 'ENSG00000257086', 'score': 23.8}, {'connected_gene': 'FAU', 'score': 21.33}, {'connected_gene': 'ATG2A', 'score': 17.74}, {'connected_gene': 'ZNHIT2', 'score': 15.94}, {'connected_gene': 'NAALADL1', 'score': 15.12}, {'connected_gene': 'IMMP1LP1', 'score': 13.73}, {'connected_gene': 'VPS51', 'score': 13.39}, {'connected_gene': 'ENSG00000269038', 'score': 12.65}, {'connected_gene': 'ATL3', 'score': 12.19}, {'connected_gene': 'SYVN1', 'score': 11.79}, {'connected_gene': 'PPP1R14B', 'score': 11.36}, {'connected_gene': 'SAC3D1', 'score': 10.96}, {'connected_gene': 'MRPL49', 'score': 10.04}, {'connected_gene': 'CCDC88B', 'score': 5.52}, {'connected_gene': 'LOC102723878', 'score': 0.44}]
chr11	GH11I064405	64405826	64408029	0.96	[{'connected_gene': 'GC11P064406', 'score': 550.77}, {'connected_gene': 'POLA2', 'score': 33.85}, {'connected_gene': 'PLCB3', 'score': 29.31}, {'connected_gene': 'SF1', 'score': 28.36}, {'connected_gene': 'ZFPL1', 'score': 24.42}, {'connected_gene': 'FAU', 'score': 21.32}, {'connected_gene': 'FRMD8', 'score': 18.88}, {'connected_gene': 'NAALADL1', 'score': 15.13}, {'connected_gene': 'RPS6KA4', 'score': 13.61}, {'connected_gene': 'ENSG00000231680', 'score': 13.59}, {'connected_gene': 'VPS51', 'score': 13.39}, {'connected_gene': 'ATL3', 'score': 12.18}, {'connected_gene': 'SYVN1', 'score': 11.79}, {'connected_gene': 'ENSG00000257086', 'score': 11.47}, {'connected_gene': 'PPP1R14B', 'score': 11.29}, {'connected_gene': 'MRPL49', 'score': 10.04}, {'connected_gene': 'ATG2A', 'score': 9.74}, {'connected_gene': 'RTN3', 'score': 9.67}, {'connected_gene': 'MEN1', 'score': 4.35}, {'connected_gene': 'LOC105369341', 'score': 0.39}]