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
ENST00000602787	[[10490158, 10490625], [10493898, 10494022], [10494713, 10494747], [10500403, 10500470], [10511433, 10512210]]	[[10490574, 10490625], [10493898, 10494022], [10494713, 10494747], [10500403, 10500470], [10511433, 10511652]]
ENST00000602296	[[10490158, 10490625], [10493898, 10494022], [10494713, 10494747], [10511433, 10512210]]	[[10490574, 10490625], [10493898, 10494022], [10494713, 10494747], [10511433, 10511458]]
ENST00000309048	[[10490499, 10490625], [10493898, 10494022], [10494713, 10494747], [10500403, 10500470], [10502321, 10502866]]	[[10490574, 10490625], [10493898, 10494022], [10494713, 10494747], [10500403, 10500470], [10502321, 10502462]]
ENST00000602486	[[10490568, 10490625], [10490932, 10491187]]	None
ENST00000477755	[[10490839, 10491458], [10493898, 10494022], [10494713, 10494747], [10500403, 10500470], [10502321, 10502391]]	[[10493964, 10494022], [10494713, 10494747], [10500403, 10500470], [10502321, 10502391]]
ENST00000462462	[[10491179, 10491458], [10500403, 10500470], [10502321, 10502559]]	None
ENST00000464507	[[10500179, 10500470], [10502321, 10502714]]	None
NM_199294	[[10490158, 10490625], [10493898, 10494022], [10494713, 10494747], [10500403, 10500470], [10502321, 10502872]]	[[10490574, 10490625], [10493898, 10494022], [10494713, 10494747], [10500403, 10500470], [10502321, 10502462]]
NR_036462	[[10490803, 10491458], [10493898, 10494022], [10494713, 10494747], [10500403, 10500470], [10502321, 10502872]]	None

Promoter

Chrom	Start	End	Description
chr1	10490127	10490140	CAGE_peak_5_at_APITD1_5end,CAGE_peak_8_at_APITD1-CORT_5end
chr1	10490477	10490553	CAGE_peak_2_at_APITD1-CORT_5end,CAGE_peak_2_at_APITD1_5end
chr1	10490779	10490839	CAGE_peak_1_at_APITD1-CORT_5end,CAGE_peak_1_at_APITD1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I010474	10474070	10476782	2.06	[{'connected_gene': 'PEX14', 'score': 550.77}, {'connected_gene': 'UBIAD1', 'score': 17.6}, {'connected_gene': 'PGD', 'score': 16.08}, {'connected_gene': 'EXOSC10', 'score': 10.44}, {'connected_gene': 'TARDBP', 'score': 10.16}, {'connected_gene': 'ENSG00000226849', 'score': 9.88}, {'connected_gene': 'CENPS', 'score': 4.55}, {'connected_gene': 'DFFA', 'score': 0.77}, {'connected_gene': 'GC01P010513', 'score': 0.28}]
chr1	GH01I010494	10494614	10499279	1.55	[{'connected_gene': 'PEX14', 'score': 19.76}, {'connected_gene': 'DFFA', 'score': 12.01}, {'connected_gene': 'CENPS-CORT', 'score': 11.73}, {'connected_gene': 'CENPS', 'score': 11.73}, {'connected_gene': 'CORT', 'score': 11.64}, {'connected_gene': 'ENSG00000203469', 'score': 11.25}, {'connected_gene': 'ENSG00000271989', 'score': 8.47}, {'connected_gene': 'PGD', 'score': 6.9}, {'connected_gene': 'GC01P010513', 'score': 0.37}]
chr1	GH01I010168	10168035	10171624	0.92	[{'connected_gene': 'CENPS', 'score': 6.77}, {'connected_gene': 'KIF1B', 'score': 5.79}, {'connected_gene': 'RNU6-828P', 'score': 0.44}, {'connected_gene': 'UBE4B', 'score': 0.12}]
chr1	GH01I010903	10903381	10906087	1.59	[{'connected_gene': 'CENPS', 'score': 5.48}, {'connected_gene': 'HSPE1P24', 'score': 0.44}, {'connected_gene': 'C1orf127', 'score': 0.18}]
chr1	GH01I010427	10427959	10428599	1	[{'connected_gene': 'CENPS', 'score': 550.77}, {'connected_gene': 'CENPS-CORT', 'score': 550.77}, {'connected_gene': 'PGD', 'score': 18.29}]
chr1	GH01I010412	10412688	10413509	0.2	[{'connected_gene': 'PGD', 'score': 70.63}, {'connected_gene': 'PEX14', 'score': 10.61}, {'connected_gene': 'DFFA', 'score': 10.61}, {'connected_gene': 'CENPS', 'score': 0.37}, {'connected_gene': 'CENPS-CORT', 'score': 0.37}]
chr1	GH01I010555	10555469	10556987	1.12	[{'connected_gene': 'PGD', 'score': 8.85}, {'connected_gene': 'CENPS', 'score': 5.17}, {'connected_gene': 'PIR58493', 'score': 0.37}, {'connected_gene': 'GC01P010598', 'score': 0.26}, {'connected_gene': 'PEX14', 'score': 0.18}]
chr1	GH01I010575	10575112	10576104	0.43	[{'connected_gene': 'PGD', 'score': 12.27}, {'connected_gene': 'CENPS', 'score': 5.8}, {'connected_gene': 'GC01P010598', 'score': 0.34}, {'connected_gene': 'PIR58493', 'score': 0.28}, {'connected_gene': 'PEX14', 'score': 0.15}]
chr1	GH01I010358	10358413	10359687	0.31	[{'connected_gene': 'PGD', 'score': 79.05}, {'connected_gene': 'CENPS', 'score': 10.93}, {'connected_gene': 'CORT', 'score': 10.9}, {'connected_gene': 'PEX14', 'score': 9.84}, {'connected_gene': 'DFFA', 'score': 9.84}, {'connected_gene': 'KIF1B', 'score': 7.89}, {'connected_gene': 'LOC105376725', 'score': 0.44}, {'connected_gene': 'RN7SL731P', 'score': 0.23}]
chr1	GH01I010432	10432475	10434533	0.52	[{'connected_gene': 'PGD', 'score': 18.38}, {'connected_gene': 'ENSG00000271989', 'score': 0.77}, {'connected_gene': 'CENPS', 'score': 0.77}, {'connected_gene': 'CENPS-CORT', 'score': 0.77}, {'connected_gene': 'CORT', 'score': 0.37}]
chr1	GH01I010428	10427001	10427400	0.2	[{'connected_gene': 'PGD', 'score': 16.42}, {'connected_gene': 'CENPS', 'score': 0.77}, {'connected_gene': 'CENPS-CORT', 'score': 0.77}]
chr1	GH01I010419	10419210	10420552	0.38	[{'connected_gene': 'PGD', 'score': 62.9}, {'connected_gene': 'CENPS', 'score': 0.39}, {'connected_gene': 'CENPS-CORT', 'score': 0.39}]
chr1	GH01I010402	10402825	10404570	0.82	[{'connected_gene': 'PGD', 'score': 69.76}, {'connected_gene': 'CENPS', 'score': 0.31}, {'connected_gene': 'CENPS-CORT', 'score': 0.31}]
chr1	GH01I010398	10398140	10401774	2.3	[{'connected_gene': 'PGD', 'score': 626.18}, {'connected_gene': 'UBIAD1', 'score': 27.44}, {'connected_gene': 'TARDBP', 'score': 10.15}, {'connected_gene': 'EXOSC10', 'score': 9.69}, {'connected_gene': 'CENPS', 'score': 0.29}, {'connected_gene': 'CENPS-CORT', 'score': 0.29}]
chr1	GH01I010351	10351755	10354316	0.56	[{'connected_gene': 'PGD', 'score': 86.47}, {'connected_gene': 'KIF1B', 'score': 19.66}, {'connected_gene': 'CENPS', 'score': 10.96}, {'connected_gene': 'CORT', 'score': 10.93}, {'connected_gene': 'RNU6-37P', 'score': 10.9}, {'connected_gene': 'RNU6-828P', 'score': 9.97}, {'connected_gene': 'LOC105376725', 'score': 0.39}, {'connected_gene': 'RN7SL731P', 'score': 0.25}]
chr1	GH01I010436	10436823	10437018	0.48	[{'connected_gene': 'PGD', 'score': 17.53}, {'connected_gene': 'KIF1B', 'score': 1.28}, {'connected_gene': 'ENSG00000271989', 'score': 0.44}, {'connected_gene': 'CENPS', 'score': 0.44}, {'connected_gene': 'CENPS-CORT', 'score': 0.44}, {'connected_gene': 'CORT', 'score': 0.39}]
chr1	GH01I010413	10413905	10416965	1.35	[{'connected_gene': 'PGD', 'score': 67.21}, {'connected_gene': 'CORT', 'score': 12.15}, {'connected_gene': 'PEX14', 'score': 10.61}, {'connected_gene': 'DFFA', 'score': 10.61}, {'connected_gene': 'CENPS', 'score': 0.39}, {'connected_gene': 'CENPS-CORT', 'score': 0.39}]
chr1	GH01I010642	10642377	10644961	0.63	[{'connected_gene': 'PGD', 'score': 5.51}, {'connected_gene': 'MASP2', 'score': 5.23}, {'connected_gene': 'CENPS', 'score': 4.7}, {'connected_gene': 'ENSG00000272078', 'score': 0.77}, {'connected_gene': 'GC01P010673', 'score': 0.31}, {'connected_gene': 'CASZ1', 'score': 0.1}]
chr1	GH01I010124	10124839	10134344	0.43	[{'connected_gene': 'PGD', 'score': 13.01}, {'connected_gene': 'RNU6-828P', 'score': 11.84}, {'connected_gene': 'RN7SKP269', 'score': 11.18}, {'connected_gene': 'LZIC', 'score': 11.18}, {'connected_gene': 'ENSG00000228150', 'score': 11.18}, {'connected_gene': 'NMNAT1', 'score': 11.18}, {'connected_gene': 'UBE4B', 'score': 10.73}, {'connected_gene': 'RNU6-37P', 'score': 10.33}, {'connected_gene': 'ENSG00000223989', 'score': 10.11}, {'connected_gene': 'CTNNBIP1', 'score': 10.08}, {'connected_gene': 'RBP7', 'score': 5.45}, {'connected_gene': 'CENPS', 'score': 4.54}, {'connected_gene': 'PGAM1P11', 'score': 0.19}]
chr1	GH01I010331	10331043	10332284	0.2	[{'connected_gene': 'PGD', 'score': 20.08}, {'connected_gene': 'RNU6-37P', 'score': 11.47}, {'connected_gene': 'CENPS-CORT', 'score': 10.54}, {'connected_gene': 'CENPS', 'score': 10.54}, {'connected_gene': 'LZIC', 'score': 9.94}, {'connected_gene': 'ENSG00000228150', 'score': 9.94}, {'connected_gene': 'NMNAT1', 'score': 9.94}, {'connected_gene': 'RN7SKP269', 'score': 9.93}, {'connected_gene': 'KIF1B', 'score': 8.41}, {'connected_gene': 'RN7SL731P', 'score': 0.31}, {'connected_gene': 'LOC105376725', 'score': 0.28}]
chr1	GH01I010552	10552302	10554142	0.7	[{'connected_gene': 'TARDBP', 'score': 17.37}, {'connected_gene': 'PGD', 'score': 15.0}, {'connected_gene': 'EXOSC10', 'score': 14.52}, {'connected_gene': 'ENSG00000226849', 'score': 11.72}, {'connected_gene': 'MTOR', 'score': 11.14}, {'connected_gene': 'ENSG00000271895', 'score': 10.46}, {'connected_gene': 'CENPS', 'score': 5.34}, {'connected_gene': 'PIR58493', 'score': 0.39}, {'connected_gene': 'GC01P010598', 'score': 0.25}, {'connected_gene': 'PEX14', 'score': 0.18}]
chr1	GH01I010283	10283289	10284230	0.64	[{'connected_gene': 'KIF1B', 'score': 11.97}, {'connected_gene': 'PGD', 'score': 10.75}, {'connected_gene': 'RNU6-828P', 'score': 10.7}, {'connected_gene': 'CENPS', 'score': 10.15}, {'connected_gene': 'CORT', 'score': 10.14}, {'connected_gene': 'DFFA', 'score': 9.58}, {'connected_gene': 'PEX14', 'score': 9.58}, {'connected_gene': 'UBE4B', 'score': 9.55}, {'connected_gene': 'GC01P010298', 'score': 0.37}, {'connected_gene': 'GC01M010233', 'score': 0.25}]
chr1	GH01I010655	10655442	10660749	0.56	[{'connected_gene': 'C1orf127', 'score': 10.42}, {'connected_gene': 'CENPS', 'score': 5.8}, {'connected_gene': 'PGD', 'score': 5.42}, {'connected_gene': 'RBP7', 'score': 4.39}, {'connected_gene': 'ENSG00000272078', 'score': 0.37}, {'connected_gene': 'GC01P010673', 'score': 0.37}, {'connected_gene': 'CASZ1', 'score': 0.12}]
chr1	GH01I010524	10524363	10525668	0.65	[{'connected_gene': 'C1orf127', 'score': 9.86}, {'connected_gene': 'PGD', 'score': 5.2}, {'connected_gene': 'CENPS', 'score': 4.53}, {'connected_gene': 'PIR58493', 'score': 0.39}, {'connected_gene': 'GC01P010513', 'score': 0.39}, {'connected_gene': 'PEX14', 'score': 0.23}]
chr1	GH01I010449	10449981	10452175	1.08	[{'connected_gene': 'CORT', 'score': 550.77}, {'connected_gene': 'PGD', 'score': 25.11}, {'connected_gene': 'ENSG00000271989', 'score': 16.18}, {'connected_gene': 'CENPS-CORT', 'score': 12.32}, {'connected_gene': 'CENPS', 'score': 12.32}, {'connected_gene': 'DFFA', 'score': 11.58}, {'connected_gene': 'PEX14', 'score': 11.58}, {'connected_gene': 'C1orf127', 'score': 9.6}, {'connected_gene': 'ENSG00000203469', 'score': 0.44}]
chr1	GH01I010073	10073388	10075634	1.17	[{'connected_gene': 'UBE4B', 'score': 11.48}, {'connected_gene': 'RN7SKP269', 'score': 10.83}, {'connected_gene': 'LZIC', 'score': 10.81}, {'connected_gene': 'ENSG00000228150', 'score': 10.81}, {'connected_gene': 'NMNAT1', 'score': 10.81}, {'connected_gene': 'RNU6-37P', 'score': 10.59}, {'connected_gene': 'CENPS', 'score': 10.4}, {'connected_gene': 'CTNNBIP1', 'score': 10.3}, {'connected_gene': 'PGAM1P11', 'score': 0.37}, {'connected_gene': 'GC01P010056', 'score': 0.37}, {'connected_gene': 'RNU6-828P', 'score': 0.17}]
chr1	GH01I009874	9874483	9875724	1.28	[{'connected_gene': 'PIR35071', 'score': 550.77}, {'connected_gene': 'CENPS', 'score': 4.32}, {'connected_gene': 'LOC105376717', 'score': 0.34}, {'connected_gene': 'CTNNBIP1', 'score': 0.28}]
chr1	GH01I010429	10429549	10431688	2.09	[{'connected_gene': 'ENSG00000271989', 'score': 566.73}, {'connected_gene': 'CENPS', 'score': 556.95}, {'connected_gene': 'CENPS-CORT', 'score': 550.77}, {'connected_gene': 'TARDBP', 'score': 31.07}, {'connected_gene': 'PGD', 'score': 22.61}, {'connected_gene': 'ENSG00000226849', 'score': 12.71}, {'connected_gene': 'DFFA', 'score': 12.58}, {'connected_gene': 'UBIAD1', 'score': 11.61}, {'connected_gene': 'EXOSC10', 'score': 9.84}, {'connected_gene': 'SRM', 'score': 6.06}]
chr1	GH01I010029	10029001	10029600	0.38	[{'connected_gene': 'GC01P010029', 'score': 550.77}, {'connected_gene': 'CENPS', 'score': 5.05}, {'connected_gene': 'PIR54123', 'score': 0.77}, {'connected_gene': 'GC01M010031', 'score': 0.77}]
chr1	GH01I009889	9889273	9891932	1.19	[{'connected_gene': 'ENSG00000223989', 'score': 11.1}, {'connected_gene': 'UBE4B', 'score': 10.42}, {'connected_gene': 'CENPS', 'score': 4.32}, {'connected_gene': 'CTNNBIP1', 'score': 0.37}, {'connected_gene': 'PIR35071', 'score': 0.37}]