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
ENST00000559044	[[56584531, 56584798], [56645052, 56645182], [56746393, 56746495], [56755154, 56755352], [56756985, 56757062]]	[[56746486, 56746495], [56755154, 56755352], [56756985, 56757062]]
ENST00000267460	[[56585092, 56585455], [56645052, 56645182], [56746393, 56746495], [56755154, 56755352], [56756985, 56757174], [56763317, 56768244]]	[[56585378, 56585455], [56645052, 56645182], [56746393, 56746495], [56755154, 56755352], [56756985, 56757174], [56763317, 56763884]]
ENST00000561019	[[56585826, 56585928], [56645052, 56645182], [56746393, 56746495], [56755154, 56755352], [56756985, 56757011]]	[[56746486, 56746495], [56755154, 56755352], [56756985, 56757011]]
NM_021255	[[56585092, 56585455], [56645052, 56645182], [56746393, 56746495], [56755154, 56755352], [56756985, 56757174], [56763317, 56768031]]	[[56585378, 56585455], [56645052, 56645182], [56746393, 56746495], [56755154, 56755352], [56756985, 56757174], [56763317, 56763884]]

Promoter

Chrom	Start	End	Description
chr14	56584414	56584464	CAGE_peak_18_at_PELI2_5end
chr14	56584655	56584673	CAGE_peak_12_at_PELI2_5end
chr14	56585009	56585037	CAGE_peak_2_at_PELI2_5end
chr14	56585048	56585150	CAGE_peak_1_at_PELI2_5end
chr14	56585183	56585203	CAGE_peak_3_at_PELI2_5end
chr14	56764192	56764197	CAGE_peak_4_at_PELI2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr14	GH14I055794	55794823	55794972	0.74	[{'connected_gene': 'LINC00520', 'score': 550.77}, {'connected_gene': 'PELI2', 'score': 9.93}, {'connected_gene': 'RPL13AP3', 'score': 0.31}, {'connected_gene': 'GC14P055769', 'score': 0.31}]
chr14	GH14I056216	56216426	56217465	1.09	[{'connected_gene': 'PELI2', 'score': 11.59}, {'connected_gene': 'LOC105370515', 'score': 9.95}, {'connected_gene': 'ENSG00000275569', 'score': 0.17}, {'connected_gene': 'ENSG00000277763', 'score': 0.15}]
chr14	GH14I056378	56378059	56379399	0.86	[{'connected_gene': 'PELI2', 'score': 2.49}, {'connected_gene': 'PIR31231', 'score': 0.77}, {'connected_gene': 'LOC105370514', 'score': 0.39}]
chr14	GH14I056092	56092306	56094457	0.63	[{'connected_gene': 'PELI2', 'score': 17.15}, {'connected_gene': 'LOC105370513', 'score': 0.37}, {'connected_gene': 'GC14P056068', 'score': 0.34}]
chr14	GH14I056112	56112601	56113400	0.2	[{'connected_gene': 'PELI2', 'score': 0.77}, {'connected_gene': 'LOC105370513', 'score': 0.77}]
chr14	GH14I056059	56058943	56060113	0.2	[{'connected_gene': 'PELI2', 'score': 10.09}, {'connected_gene': 'GC14P056068', 'score': 0.44}, {'connected_gene': 'LOC105370512', 'score': 0.23}]
chr14	GH14I056057	56057339	56057800	0.31	[{'connected_gene': 'PELI2', 'score': 10.08}, {'connected_gene': 'GC14P056068', 'score': 0.39}, {'connected_gene': 'LOC105370512', 'score': 0.23}]
chr14	GH14I056062	56062958	56066606	0.46	[{'connected_gene': 'PELI2', 'score': 10.46}, {'connected_gene': 'GC14P056068', 'score': 0.77}, {'connected_gene': 'LOC105370512', 'score': 0.22}]
chr14	GH14I056004	56003003	56003152	0.46	[{'connected_gene': 'PELI2', 'score': 10.35}, {'connected_gene': 'LOC105370512', 'score': 0.77}, {'connected_gene': 'GC14M055998', 'score': 0.77}]
chr14	GH14I056058	56057103	56057252	0.2	[{'connected_gene': 'PELI2', 'score': 10.08}, {'connected_gene': 'GC14P056068', 'score': 0.39}, {'connected_gene': 'LOC105370512', 'score': 0.23}]
chr14	GH14I056332	56332537	56335310	1.21	[{'connected_gene': 'PELI2', 'score': 17.41}, {'connected_gene': 'LINC02284', 'score': 0.34}, {'connected_gene': 'PIR31231', 'score': 0.26}]
chr14	GH14I056324	56324494	56326464	0.38	[{'connected_gene': 'PELI2', 'score': 12.52}, {'connected_gene': 'LINC02284', 'score': 0.39}, {'connected_gene': 'PIR31231', 'score': 0.25}]
chr14	GH14I056341	56341164	56343306	0.79	[{'connected_gene': 'PELI2', 'score': 10.39}, {'connected_gene': 'LINC02284', 'score': 0.29}, {'connected_gene': 'PIR31231', 'score': 0.29}]
chr14	GH14I056338	56338719	56340852	1.24	[{'connected_gene': 'PELI2', 'score': 11.91}, {'connected_gene': 'LINC02284', 'score': 0.31}, {'connected_gene': 'PIR31231', 'score': 0.29}]
chr14	GH14I055925	55925511	55929365	0.74	[{'connected_gene': 'PELI2', 'score': 10.08}, {'connected_gene': 'GC14P055915', 'score': 0.39}, {'connected_gene': 'LOC102723670', 'score': 0.29}, {'connected_gene': 'GC14M055998', 'score': 0.19}]
chr14	GH14I056155	56155967	56157342	0.31	[{'connected_gene': 'PELI2', 'score': 11.45}, {'connected_gene': 'ENSG00000277763', 'score': 0.28}, {'connected_gene': 'ENSG00000275569', 'score': 0.11}]
chr14	GH14I056160	56160200	56160400	0.51	[{'connected_gene': 'PELI2', 'score': 11.0}, {'connected_gene': 'ENSG00000277763', 'score': 0.26}, {'connected_gene': 'ENSG00000275569', 'score': 0.11}]
chr14	GH14I056131	56131103	56131272	0.58	[{'connected_gene': 'PELI2', 'score': 0.39}, {'connected_gene': 'ENSG00000277763', 'score': 0.39}, {'connected_gene': 'ENSG00000275569', 'score': 0.09}]
chr14	GH14I056205	56205583	56208524	0.97	[{'connected_gene': 'PELI2', 'score': 16.95}, {'connected_gene': 'ENSG00000277763', 'score': 0.17}, {'connected_gene': 'ENSG00000275569', 'score': 0.15}]
chr14	GH14I056243	56243254	56245123	0.72	[{'connected_gene': 'PELI2', 'score': 11.18}, {'connected_gene': 'ENSG00000275569', 'score': 0.21}, {'connected_gene': 'ENSG00000277763', 'score': 0.13}]
chr14	GH14I056137	56137401	56138200	0.58	[{'connected_gene': 'PELI2', 'score': 5.55}, {'connected_gene': 'ENSG00000277763', 'score': 0.37}, {'connected_gene': 'ENSG00000275569', 'score': 0.1}]
chr14	GH14I056203	56203925	56204848	0.2	[{'connected_gene': 'PELI2', 'score': 15.91}, {'connected_gene': 'ENSG00000277763', 'score': 0.17}, {'connected_gene': 'ENSG00000275569', 'score': 0.15}]
chr14	GH14I056190	56190695	56192038	0.38	[{'connected_gene': 'PELI2', 'score': 11.44}, {'connected_gene': 'ENSG00000277763', 'score': 0.19}, {'connected_gene': 'ENSG00000275569', 'score': 0.14}]
chr14	GH14I056129	56129401	56130400	0.66	[{'connected_gene': 'PELI2', 'score': 4.99}, {'connected_gene': 'ENSG00000277763', 'score': 0.39}, {'connected_gene': 'ENSG00000275569', 'score': 0.1}]
chr14	GH14I056266	56266575	56266702	0.25	[{'connected_gene': 'PELI2', 'score': 6.28}, {'connected_gene': 'ENSG00000275569', 'score': 0.28}, {'connected_gene': 'ENSG00000277763', 'score': 0.11}]
chr14	GH14I056133	56133138	56135174	0.49	[{'connected_gene': 'PELI2', 'score': 5.33}, {'connected_gene': 'ENSG00000277763', 'score': 0.37}, {'connected_gene': 'ENSG00000275569', 'score': 0.09}]
chr14	GH14I056202	56202224	56202886	0.57	[{'connected_gene': 'PELI2', 'score': 10.84}, {'connected_gene': 'ENSG00000277763', 'score': 0.18}, {'connected_gene': 'ENSG00000275569', 'score': 0.15}]
chr14	GH14I056176	56176663	56176812	0.51	[{'connected_gene': 'PELI2', 'score': 11.49}, {'connected_gene': 'ENSG00000277763', 'score': 0.22}, {'connected_gene': 'ENSG00000275569', 'score': 0.13}]
chr14	GH14I056126	56126763	56126867	0.31	[{'connected_gene': 'PELI2', 'score': 0.44}, {'connected_gene': 'ENSG00000277763', 'score': 0.44}, {'connected_gene': 'ENSG00000275569', 'score': 0.1}]
chr14	GH14I056198	56198238	56200766	1.29	[{'connected_gene': 'PELI2', 'score': 14.86}, {'connected_gene': 'ENSG00000277763', 'score': 0.18}, {'connected_gene': 'ENSG00000275569', 'score': 0.14}]
chr14	GH14I056149	56149787	56150574	0.51	[{'connected_gene': 'PELI2', 'score': 11.5}, {'connected_gene': 'ENSG00000277763', 'score': 0.29}, {'connected_gene': 'ENSG00000275569', 'score': 0.1}]
chr14	GH14I056121	56121603	56122496	0.51	[{'connected_gene': 'PELI2', 'score': 0.77}, {'connected_gene': 'ENSG00000277763', 'score': 0.77}, {'connected_gene': 'ENSG00000275569', 'score': 0.09}]
chr14	GH14I056222	56222285	56223675	0.2	[{'connected_gene': 'PELI2', 'score': 15.87}, {'connected_gene': 'ENSG00000275569', 'score': 0.18}, {'connected_gene': 'ENSG00000277763', 'score': 0.15}]
chr14	GH14I056211	56211132	56213812	0.31	[{'connected_gene': 'PELI2', 'score': 16.73}, {'connected_gene': 'ENSG00000277763', 'score': 0.16}, {'connected_gene': 'ENSG00000275569', 'score': 0.16}]
chr14	GH14I056185	56185581	56187703	0.31	[{'connected_gene': 'PELI2', 'score': 10.97}, {'connected_gene': 'ENSG00000277763', 'score': 0.2}, {'connected_gene': 'ENSG00000275569', 'score': 0.13}]
chr14	GH14I056223	56223946	56226728	0.83	[{'connected_gene': 'PELI2', 'score': 11.25}, {'connected_gene': 'ENSG00000275569', 'score': 0.18}, {'connected_gene': 'ENSG00000277763', 'score': 0.14}]
chr14	GH14I056167	56167864	56168743	0.58	[{'connected_gene': 'PELI2', 'score': 17.59}, {'connected_gene': 'ENSG00000277763', 'score': 0.23}, {'connected_gene': 'ENSG00000275569', 'score': 0.12}]
chr14	GH14I056191	56189463	56189612	0.46	[{'connected_gene': 'PELI2', 'score': 11.44}, {'connected_gene': 'ENSG00000277763', 'score': 0.19}, {'connected_gene': 'ENSG00000275569', 'score': 0.13}]
chr14	GH14I056141	56141791	56142607	0.2	[{'connected_gene': 'PELI2', 'score': 0.34}, {'connected_gene': 'ENSG00000277763', 'score': 0.34}, {'connected_gene': 'ENSG00000275569', 'score': 0.1}]
chr14	GH14I055974	55974225	55974748	0.2	[{'connected_gene': 'PELI2', 'score': 11.59}, {'connected_gene': 'GC14M055998', 'score': 0.34}, {'connected_gene': 'GC14P055915', 'score': 0.22}]
chr14	GH14I056189	56189201	56189401	0.46	[{'connected_gene': 'PELI2', 'score': 0.19}, {'connected_gene': 'ENSG00000277763', 'score': 0.19}, {'connected_gene': 'ENSG00000275569', 'score': 0.13}]
chr14	GH14I056195	56195247	56196744	1.14	[{'connected_gene': 'PELI2', 'score': 15.65}, {'connected_gene': 'ENSG00000277763', 'score': 0.18}, {'connected_gene': 'ENSG00000275569', 'score': 0.14}]
chr14	GH14I056170	56170672	56173807	1.27	[{'connected_gene': 'PELI2', 'score': 17.57}, {'connected_gene': 'ENSG00000277763', 'score': 0.23}, {'connected_gene': 'ENSG00000275569', 'score': 0.12}]
chr14	GH14I056181	56181459	56182289	0.84	[{'connected_gene': 'PELI2', 'score': 16.12}, {'connected_gene': 'ENSG00000277763', 'score': 0.21}, {'connected_gene': 'ENSG00000275569', 'score': 0.13}]
chr14	GH14I056130	56130583	56130732	0.51	[{'connected_gene': 'PELI2', 'score': 0.39}, {'connected_gene': 'ENSG00000277763', 'score': 0.39}, {'connected_gene': 'ENSG00000275569', 'score': 0.1}]
chr14	GH14I056134	56129163	56129312	0.4	[{'connected_gene': 'PELI2', 'score': 0.39}, {'connected_gene': 'ENSG00000277763', 'score': 0.39}, {'connected_gene': 'ENSG00000275569', 'score': 0.1}]
chr14	GH14I056219	56219444	56221400	1.32	[{'connected_gene': 'PELI2', 'score': 11.59}, {'connected_gene': 'ENSG00000275569', 'score': 0.17}, {'connected_gene': 'ENSG00000277763', 'score': 0.15}]
chr14	GH14I056132	56132099	56133002	0.52	[{'connected_gene': 'PELI2', 'score': 0.39}, {'connected_gene': 'ENSG00000277763', 'score': 0.39}, {'connected_gene': 'ENSG00000275569', 'score': 0.09}]
chr14	GH14I056125	56125563	56126447	0.51	[{'connected_gene': 'PELI2', 'score': 0.44}, {'connected_gene': 'ENSG00000277763', 'score': 0.44}, {'connected_gene': 'ENSG00000275569', 'score': 0.1}]
chr14	GH14I056115	56115877	56120907	2.07	[{'connected_gene': 'PELI2', 'score': 555.95}, {'connected_gene': 'ENSG00000277763', 'score': 550.77}, {'connected_gene': 'ENSG00000259483', 'score': 4.4}, {'connected_gene': 'ENSG00000275569', 'score': 0.09}]
chr14	GH14I056197	56197527	56197640	0.51	[{'connected_gene': 'PELI2', 'score': 11.18}, {'connected_gene': 'ENSG00000277763', 'score': 0.18}, {'connected_gene': 'ENSG00000275569', 'score': 0.14}]
chr14	GH14I056578	56578943	56581340	2.25	[{'connected_gene': 'TMEM260', 'score': 558.14}, {'connected_gene': 'LOC105370515', 'score': 17.84}, {'connected_gene': 'PELI2', 'score': 13.23}, {'connected_gene': 'LOC101927690', 'score': 0.2}]
chr14	GH14I056003	56003303	56006613	1.07	[{'connected_gene': 'LOC105370512', 'score': 550.77}, {'connected_gene': 'PELI2', 'score': 19.42}, {'connected_gene': 'GC14M055998', 'score': 0.44}]
chr14	GH14I056310	56310343	56311431	0.31	[{'connected_gene': 'LINC02284', 'score': 550.77}, {'connected_gene': 'ENSG00000259483', 'score': 550.77}, {'connected_gene': 'PELI2', 'score': 6.81}, {'connected_gene': 'PIR31231', 'score': 0.21}]
chr14	GH14I056270	56270757	56274197	0.79	[{'connected_gene': 'ENSG00000275569', 'score': 0.29}, {'connected_gene': 'PELI2', 'score': 0.1}, {'connected_gene': 'ENSG00000277763', 'score': 0.1}]