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
ENST00000377038	[[10516578, 10521759], [10523114, 10523266], [10523487, 10523677], [10527246, 10527389], [10529233, 10529395], [10532379, 10532583]]	[[10521546, 10521759], [10523114, 10523266], [10523487, 10523677], [10527246, 10527389], [10529233, 10529395], [10532379, 10532515]]
ENST00000476658	[[10521699, 10521759], [10523044, 10523266], [10527246, 10527389], [10529233, 10529395], [10532379, 10532536]]	[[10523227, 10523266], [10527246, 10527389], [10529233, 10529395], [10532379, 10532515]]
ENST00000377036	[[10522524, 10523266], [10523487, 10523677], [10527246, 10527389], [10529233, 10529395], [10532379, 10532545]]	[[10523090, 10523266], [10523487, 10523677], [10527246, 10527389], [10529233, 10529395], [10532379, 10532515]]
NM_213566	[[10520587, 10523266], [10523487, 10523677], [10527246, 10527389], [10529233, 10529395], [10532379, 10532613]]	[[10523090, 10523266], [10523487, 10523677], [10527246, 10527389], [10529233, 10529395], [10532379, 10532515]]
NM_004401	[[10520587, 10521759], [10523114, 10523266], [10523487, 10523677], [10527246, 10527389], [10529233, 10529395], [10532379, 10532613]]	[[10521546, 10521759], [10523114, 10523266], [10523487, 10523677], [10527246, 10527389], [10529233, 10529395], [10532379, 10532515]]

Promoter

Chrom	Start	End	Description
chr1	10532522	10532527	CAGE_peak_4_at_DFFA_5end
chr1	10532531	10532594	CAGE_peak_1_at_DFFA_5end
chr1	10532595	10532623	CAGE_peak_2_at_DFFA_5end
chr1	10532627	10532644	CAGE_peak_3_at_DFFA_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	GH01I010714	10714184	10715537	0.66	[{'connected_gene': 'PEX14', 'score': 9.87}, {'connected_gene': 'DFFA', 'score': 9.87}, {'connected_gene': 'C1orf127', 'score': 9.39}, {'connected_gene': 'GC01P010673', 'score': 0.26}, {'connected_gene': 'CASZ1', 'score': 0.18}]
chr1	GH01I010521	10521133	10523679	0.54	[{'connected_gene': 'PEX14', 'score': 17.28}, {'connected_gene': 'DFFA', 'score': 10.11}, {'connected_gene': 'C1orf127', 'score': 9.68}, {'connected_gene': 'RBP7', 'score': 5.81}, {'connected_gene': 'GC01P010513', 'score': 0.44}, {'connected_gene': 'PIR58493', 'score': 0.37}]
chr1	GH01I010471	10471244	10473863	2.1	[{'connected_gene': 'PEX14', 'score': 550.77}, {'connected_gene': 'DFFA', 'score': 550.77}, {'connected_gene': 'RBP7', 'score': 6.01}]
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	GH01I010485	10485401	10485600	0.2	[{'connected_gene': 'PEX14', 'score': 7.61}, {'connected_gene': 'DFFA', 'score': 0.39}, {'connected_gene': 'GC01P010513', 'score': 0.31}]
chr1	GH01I010486	10485001	10485200	0.2	[{'connected_gene': 'PEX14', 'score': 0.39}, {'connected_gene': 'DFFA', 'score': 0.39}, {'connected_gene': 'GC01P010513', 'score': 0.31}]
chr1	GH01I010484	10484401	10484600	0.43	[{'connected_gene': 'PEX14', 'score': 7.61}, {'connected_gene': 'DFFA', 'score': 0.39}, {'connected_gene': 'GC01P010513', 'score': 0.31}]
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	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	GH01I010284	10284694	10287599	0.74	[{'connected_gene': 'PGD', 'score': 31.19}, {'connected_gene': 'KIF1B', 'score': 16.88}, {'connected_gene': 'PEX14', 'score': 9.58}, {'connected_gene': 'DFFA', 'score': 9.58}, {'connected_gene': 'UBE4B', 'score': 9.55}, {'connected_gene': 'GC01P010298', 'score': 0.39}, {'connected_gene': 'GC01M010233', 'score': 0.25}]
chr1	GH01I010527	10527648	10531846	1.29	[{'connected_gene': 'PGD', 'score': 13.65}, {'connected_gene': 'C1orf127', 'score': 9.95}, {'connected_gene': 'PEX14', 'score': 9.68}, {'connected_gene': 'DFFA', 'score': 9.68}, {'connected_gene': 'PIR58493', 'score': 0.44}, {'connected_gene': 'GC01P010513', 'score': 0.37}]
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	GH01I010662	10662487	10690510	2.45	[{'connected_gene': 'TARDBP', 'score': 37.65}, {'connected_gene': 'ENSG00000226849', 'score': 28.33}, {'connected_gene': 'EXOSC10', 'score': 24.53}, {'connected_gene': 'MTOR', 'score': 11.14}, {'connected_gene': 'ENSG00000271895', 'score': 10.46}, {'connected_gene': 'C1orf127', 'score': 10.42}, {'connected_gene': 'DFFA', 'score': 10.08}, {'connected_gene': 'PGD', 'score': 4.47}, {'connected_gene': 'RBP7', 'score': 4.42}, {'connected_gene': 'CASZ1', 'score': 1.6}, {'connected_gene': 'GC01P010673', 'score': 0.77}]
chr1	GH01I010704	10704004	10705120	1.23	[{'connected_gene': 'TARDBP', 'score': 12.03}, {'connected_gene': 'ENSG00000226849', 'score': 10.76}, {'connected_gene': 'EXOSC10', 'score': 10.67}, {'connected_gene': 'DFFA', 'score': 4.8}, {'connected_gene': 'GC01P010673', 'score': 0.29}, {'connected_gene': 'CASZ1', 'score': 0.16}]
chr1	GH01I010660	10660923	10661623	0.72	[{'connected_gene': 'TARDBP', 'score': 15.79}, {'connected_gene': 'CLSTN1', 'score': 14.16}, {'connected_gene': 'DFFA', 'score': 12.67}, {'connected_gene': 'EXOSC10', 'score': 10.47}, {'connected_gene': 'C1orf127', 'score': 10.42}, {'connected_gene': 'FBXO44', 'score': 10.28}, {'connected_gene': 'PGD', 'score': 4.67}, {'connected_gene': 'GC01P010673', 'score': 0.39}, {'connected_gene': 'ENSG00000272078', 'score': 0.34}, {'connected_gene': 'CASZ1', 'score': 0.12}]
chr1	GH01I011011	11011373	11014805	2.09	[{'connected_gene': 'TARDBP', 'score': 570.93}, {'connected_gene': 'ENSG00000277726', 'score': 550.77}, {'connected_gene': 'ENSG00000226849', 'score': 22.12}, {'connected_gene': 'CLCN6', 'score': 20.18}, {'connected_gene': 'EXOSC10', 'score': 10.58}, {'connected_gene': 'FBXO44', 'score': 10.28}, {'connected_gene': 'DFFA', 'score': 10.15}, {'connected_gene': 'MASP2', 'score': 9.96}, {'connected_gene': 'ANGPTL7', 'score': 5.96}, {'connected_gene': 'ENSG00000271895', 'score': 5.04}]
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	GH01I010691	10691108	10696001	1.99	[{'connected_gene': 'DFFA', 'score': 4.73}, {'connected_gene': 'GC01P010673', 'score': 0.34}, {'connected_gene': 'CASZ1', 'score': 0.15}]
chr1	GH01I010645	10645795	10648556	0.8	[{'connected_gene': 'DFFA', 'score': 14.37}, {'connected_gene': 'TARDBP', 'score': 10.58}, {'connected_gene': 'ENSG00000272078', 'score': 0.44}, {'connected_gene': 'GC01P010673', 'score': 0.31}, {'connected_gene': 'CASZ1', 'score': 0.11}]
chr1	GH01I009561	9561063	9562236	1.03	[{'connected_gene': 'DFFA', 'score': 12.35}, {'connected_gene': 'LINC01759', 'score': 10.98}, {'connected_gene': 'GPR157', 'score': 10.05}, {'connected_gene': 'TMEM201', 'score': 5.35}, {'connected_gene': 'RPL9P11', 'score': 0.39}, {'connected_gene': 'SLC25A33', 'score': 0.34}]
chr1	GH01I010533	10533066	10534152	0.83	[{'connected_gene': 'C1orf127', 'score': 9.57}, {'connected_gene': 'PEX14', 'score': 9.43}, {'connected_gene': 'DFFA', 'score': 9.43}, {'connected_gene': 'ENSG00000271989', 'score': 6.3}, {'connected_gene': 'PIR58493', 'score': 0.44}, {'connected_gene': 'GC01P010513', 'score': 0.37}]
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	GH01I010218	10218001	10218852	1	[{'connected_gene': 'RNU6-828P', 'score': 10.47}, {'connected_gene': 'PEX14', 'score': 9.96}, {'connected_gene': 'DFFA', 'score': 9.96}, {'connected_gene': 'MIR1273D', 'score': 0.44}, {'connected_gene': 'KIF1B', 'score': 0.44}]
chr1	GH01I010071	10071279	10072756	0.2	[{'connected_gene': 'UBE4B', 'score': 11.5}, {'connected_gene': 'DFFA', 'score': 5.71}, {'connected_gene': 'PGAM1P11', 'score': 0.39}, {'connected_gene': 'GC01P010056', 'score': 0.37}, {'connected_gene': 'RNU6-828P', 'score': 0.16}]
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	GH01I010507	10507201	10518285	1.85	[{'connected_gene': 'GC01P010513', 'score': 550.77}, {'connected_gene': 'PGD', 'score': 15.43}, {'connected_gene': 'NMNAT1', 'score': 10.48}, {'connected_gene': 'PEX14', 'score': 7.03}, {'connected_gene': 'ENSG00000271989', 'score': 6.94}, {'connected_gene': 'RBP7', 'score': 5.82}, {'connected_gene': 'DFFA', 'score': 0.26}]
chr1	GH01I010458	10458724	10459960	0.92	[{'connected_gene': 'ENSG00000203469', 'score': 550.77}, {'connected_gene': 'PGD', 'score': 16.48}, {'connected_gene': 'ENSG00000271989', 'score': 15.45}, {'connected_gene': 'PEX14', 'score': 0.39}, {'connected_gene': 'DFFA', 'score': 0.39}]