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
ENST00000379568	[[10694927, 10695302], [10697556, 10697719], [10702601, 10702722], [10702797, 10702872], [10703637, 10703690], [10704739, 10704885], [10704979, 10705077], [10707647, 10707747], [10709185, 10709309], [10709470, 10710015]]	[[10695218, 10695302], [10697556, 10697719], [10702601, 10702722], [10702797, 10702872], [10703637, 10703690], [10704739, 10704885], [10704979, 10705077], [10707647, 10707747], [10709185, 10709309], [10709470, 10709685]]
NM_017906	[[10695187, 10695302], [10697556, 10697719], [10702601, 10702722], [10702797, 10702872], [10703637, 10703690], [10704739, 10704885], [10704979, 10705077], [10707647, 10707747], [10709185, 10709309], [10709470, 10709972]]	[[10695218, 10695302], [10697556, 10697719], [10702601, 10702722], [10702797, 10702872], [10703637, 10703690], [10704739, 10704885], [10704979, 10705077], [10707647, 10707747], [10709185, 10709309], [10709470, 10709685]]

Promoter

Chrom	Start	End	Description
chr6	10694900	10694930	CAGE_peak_2_at_PAK1IP1_5end
chr6	10695149	10695212	CAGE_peak_1_at_PAK1IP1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr6	GH06I010309	10309109	10317601	1.71	[{'connected_gene': 'TFAP2A', 'score': 5.09}, {'connected_gene': 'PAK1IP1', 'score': 1.56}, {'connected_gene': 'LOC105374920', 'score': 0.37}, {'connected_gene': 'GC06M010217', 'score': 0.19}]
chr6	GH06I010440	10440802	10442709	1.21	[{'connected_gene': 'TFAP2A', 'score': 6.48}, {'connected_gene': 'TMEM14C', 'score': 3.0}, {'connected_gene': 'TMEM14B', 'score': 2.29}, {'connected_gene': 'PAK1IP1', 'score': 2.18}, {'connected_gene': 'GCNT2', 'score': 1.36}, {'connected_gene': 'MIR5689', 'score': 0.77}, {'connected_gene': 'MIR5689HG', 'score': 0.44}, {'connected_gene': 'MRPL48P1', 'score': 0.37}]
chr6	GH06I010398	10398426	10421363	3.44	[{'connected_gene': 'TFAP2A', 'score': 558.88}, {'connected_gene': 'TFAP2A-AS1', 'score': 550.77}, {'connected_gene': 'RNA5SP203', 'score': 32.23}, {'connected_gene': 'ERVFRD-1', 'score': 9.71}, {'connected_gene': 'PAK1IP1', 'score': 5.12}, {'connected_gene': 'TMEM14C', 'score': 4.17}, {'connected_gene': 'TMEM14B', 'score': 3.71}, {'connected_gene': 'C6orf52', 'score': 2.03}]
chr6	GH06I010541	10541547	10544008	0.77	[{'connected_gene': 'PAK1IP1', 'score': 11.25}, {'connected_gene': 'C6orf52', 'score': 11.24}, {'connected_gene': 'GCNT2', 'score': 8.29}, {'connected_gene': 'LOC101928146', 'score': 0.34}, {'connected_gene': 'GC06M010576', 'score': 0.29}]
chr6	GH06I010612	10612479	10614464	0.86	[{'connected_gene': 'PAK1IP1', 'score': 11.24}, {'connected_gene': 'C6orf52', 'score': 11.23}, {'connected_gene': 'GCNT2', 'score': 10.14}, {'connected_gene': 'PIR63050', 'score': 0.39}, {'connected_gene': 'RPL21P63', 'score': 0.28}]
chr6	GH06I010537	10537793	10537795	0.2	[{'connected_gene': 'PAK1IP1', 'score': 11.24}, {'connected_gene': 'C6orf52', 'score': 11.24}, {'connected_gene': 'LOC101928146', 'score': 0.37}, {'connected_gene': 'GC06M010576', 'score': 0.28}, {'connected_gene': 'GCNT2', 'score': 0.25}]
chr6	GH06I010719	10719401	10726130	2.31	[{'connected_gene': 'TMEM14C', 'score': 556.63}, {'connected_gene': 'RNA5SP203', 'score': 13.02}, {'connected_gene': 'ENSG00000272097', 'score': 12.71}, {'connected_gene': 'ERVFRD-1', 'score': 9.74}, {'connected_gene': 'PAK1IP1', 'score': 5.17}, {'connected_gene': 'C6orf52', 'score': 4.76}]
chr6	GH06I010478	10478568	10478677	0.57	[{'connected_gene': 'C6orf52', 'score': 10.18}, {'connected_gene': 'PAK1IP1', 'score': 10.18}, {'connected_gene': 'SYCP2L', 'score': 9.98}, {'connected_gene': 'ENSG00000235051', 'score': 9.85}, {'connected_gene': 'GCM2', 'score': 9.85}, {'connected_gene': 'LINC02522', 'score': 0.77}, {'connected_gene': 'GC06M010472', 'score': 0.37}, {'connected_gene': 'MRPL48P1', 'score': 0.37}]
chr6	GH06I010594	10594801	10595000	0.31	[{'connected_gene': 'C6orf52', 'score': 11.63}, {'connected_gene': 'PAK1IP1', 'score': 11.63}, {'connected_gene': 'SYCP2L', 'score': 11.38}, {'connected_gene': 'RPL21P63', 'score': 0.37}, {'connected_gene': 'PIR63050', 'score': 0.29}, {'connected_gene': 'GCNT2', 'score': 0.15}]
chr6	GH06I010570	10570295	10571411	0.2	[{'connected_gene': 'C6orf52', 'score': 11.24}, {'connected_gene': 'PAK1IP1', 'score': 11.24}, {'connected_gene': 'GC06M010576', 'score': 0.77}, {'connected_gene': 'LOC101928146', 'score': 0.25}, {'connected_gene': 'GCNT2', 'score': 0.18}]
chr6	GH06I010693	10693439	10696164	2.1	[{'connected_gene': 'C6orf52', 'score': 565.71}, {'connected_gene': 'PAK1IP1', 'score': 557.95}, {'connected_gene': 'RNA5SP203', 'score': 22.46}, {'connected_gene': 'TMEM14C', 'score': 0.31}]
chr6	GH06I010510	10510402	10511200	1.28	[{'connected_gene': 'C6orf52', 'score': 11.29}, {'connected_gene': 'PAK1IP1', 'score': 11.29}, {'connected_gene': 'LOC100422564', 'score': 0.77}, {'connected_gene': 'GC06M010472', 'score': 0.39}, {'connected_gene': 'LOC101928146', 'score': 0.39}, {'connected_gene': 'GCNT2', 'score': 0.37}]
chr6	GH06I010824	10824871	10825162	0.53	[{'connected_gene': 'GCNT2', 'score': 10.58}, {'connected_gene': 'ENSG00000235051', 'score': 10.36}, {'connected_gene': 'GCM2', 'score': 10.35}, {'connected_gene': 'SYCP2L', 'score': 10.35}, {'connected_gene': 'PAK1IP1', 'score': 10.19}, {'connected_gene': 'C6orf52', 'score': 10.19}, {'connected_gene': 'ELOVL2', 'score': 1.55}, {'connected_gene': 'MAK', 'score': 0.39}, {'connected_gene': 'RNA5SP203', 'score': 0.19}, {'connected_gene': 'TMEM14B', 'score': 0.18}, {'connected_gene': 'ENSG00000272162', 'score': 0.18}]
chr6	GH06I010527	10527432	10537164	2.16	[{'connected_gene': 'GCNT2', 'score': 574.45}, {'connected_gene': 'PAK1IP1', 'score': 11.76}, {'connected_gene': 'C6orf52', 'score': 11.76}, {'connected_gene': 'LOC101928146', 'score': 0.39}, {'connected_gene': 'GC06M010576', 'score': 0.26}]
chr6	GH06I010554	10554459	10558929	1.9	[{'connected_gene': 'GCNT2', 'score': 568.28}, {'connected_gene': 'GCNT2P', 'score': 12.04}, {'connected_gene': 'C6orf52', 'score': 11.39}, {'connected_gene': 'PAK1IP1', 'score': 11.39}, {'connected_gene': 'SYCP2L', 'score': 10.67}, {'connected_gene': 'GCM2', 'score': 8.91}, {'connected_gene': 'ENSG00000235051', 'score': 8.91}, {'connected_gene': 'GC06M010576', 'score': 0.37}, {'connected_gene': 'LOC101928146', 'score': 0.28}]
chr6	GH06I010525	10525692	10527138	0.51	[{'connected_gene': 'GCNT2', 'score': 13.17}, {'connected_gene': 'C6orf52', 'score': 11.41}, {'connected_gene': 'PAK1IP1', 'score': 11.4}, {'connected_gene': 'LOC101928146', 'score': 0.44}, {'connected_gene': 'GC06M010576', 'score': 0.25}]
chr6	GH06I010517	10517759	10524817	2.69	[{'connected_gene': 'GCNT2', 'score': 573.73}, {'connected_gene': 'LOC101928146', 'score': 557.14}, {'connected_gene': 'PAK1IP1', 'score': 11.41}, {'connected_gene': 'C6orf52', 'score': 11.4}, {'connected_gene': 'TMEM14B', 'score': 11.25}, {'connected_gene': 'RNA5SP203', 'score': 11.25}, {'connected_gene': 'SYCP2L', 'score': 11.23}, {'connected_gene': 'GC06M010576', 'score': 0.23}]
chr6	GH06I010514	10514378	10514878	0.38	[{'connected_gene': 'LOC100422564', 'score': 550.77}, {'connected_gene': 'GCNT2', 'score': 23.37}, {'connected_gene': 'PAK1IP1', 'score': 11.26}, {'connected_gene': 'C6orf52', 'score': 11.25}, {'connected_gene': 'LOC101928146', 'score': 0.44}]
chr6	GH06I010595	10595402	10599399	1.27	[{'connected_gene': 'GCNT2P', 'score': 12.46}, {'connected_gene': 'PAK1IP1', 'score': 11.33}, {'connected_gene': 'C6orf52', 'score': 11.33}, {'connected_gene': 'GCNT2', 'score': 10.42}, {'connected_gene': 'ELOVL2', 'score': 4.29}, {'connected_gene': 'RPL21P63', 'score': 0.34}, {'connected_gene': 'PIR63050', 'score': 0.31}]
chr6	GH06I010561	10561202	10562200	0.51	[{'connected_gene': 'GCNT2P', 'score': 12.05}, {'connected_gene': 'PAK1IP1', 'score': 11.24}, {'connected_gene': 'C6orf52', 'score': 11.22}, {'connected_gene': 'GCNT2', 'score': 6.02}, {'connected_gene': 'GC06M010576', 'score': 0.39}, {'connected_gene': 'LOC101928146', 'score': 0.26}]
chr6	GH06I010560	10560801	10561000	0.4	[{'connected_gene': 'GCNT2P', 'score': 12.05}, {'connected_gene': 'PAK1IP1', 'score': 11.24}, {'connected_gene': 'C6orf52', 'score': 11.22}, {'connected_gene': 'GC06M010576', 'score': 0.39}, {'connected_gene': 'LOC101928146', 'score': 0.28}, {'connected_gene': 'GCNT2', 'score': 0.2}]
chr6	GH06I010732	10732633	10736325	1.09	[{'connected_gene': 'ENSG00000272097', 'score': 12.46}, {'connected_gene': 'C6orf52', 'score': 11.24}, {'connected_gene': 'PAK1IP1', 'score': 11.23}, {'connected_gene': 'GC06M010746', 'score': 0.39}, {'connected_gene': 'TMEM14C', 'score': 0.39}]
chr6	GH06I010562	10560001	10560200	0.4	[{'connected_gene': 'GCNT2P', 'score': 12.05}, {'connected_gene': 'C6orf52', 'score': 11.22}, {'connected_gene': 'PAK1IP1', 'score': 11.22}, {'connected_gene': 'GCNT2', 'score': 8.2}, {'connected_gene': 'GC06M010576', 'score': 0.37}, {'connected_gene': 'LOC101928146', 'score': 0.28}]
chr6	GH06I010609	10609006	10611533	0.43	[{'connected_gene': 'GCNT2P', 'score': 12.54}, {'connected_gene': 'C6orf52', 'score': 11.33}, {'connected_gene': 'PAK1IP1', 'score': 11.33}, {'connected_gene': 'GCNT2', 'score': 9.7}, {'connected_gene': 'PIR63050', 'score': 0.37}, {'connected_gene': 'RPL21P63', 'score': 0.28}]
chr6	GH06I010565	10565308	10568892	0.8	[{'connected_gene': 'GCNT2P', 'score': 12.06}, {'connected_gene': 'C6orf52', 'score': 11.24}, {'connected_gene': 'PAK1IP1', 'score': 11.23}, {'connected_gene': 'GC06M010576', 'score': 0.44}, {'connected_gene': 'LOC101928146', 'score': 0.25}, {'connected_gene': 'GCNT2', 'score': 0.19}]
chr6	GH06I010559	10559028	10559957	0.71	[{'connected_gene': 'GCNT2P', 'score': 12.05}, {'connected_gene': 'C6orf52', 'score': 11.23}, {'connected_gene': 'PAK1IP1', 'score': 11.22}, {'connected_gene': 'GC06M010576', 'score': 0.37}, {'connected_gene': 'LOC101928146', 'score': 0.28}, {'connected_gene': 'GCNT2', 'score': 0.2}]