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
ENST00000356607	[[10534943, 10535059], [10555330, 10555378], [10596269, 10596354], [10659294, 10659423], [10678388, 10678474], [10683075, 10683178], [10684396, 10684494], [10687328, 10687420], [10689587, 10690815]]	[[10535023, 10535059], [10555330, 10555378], [10596269, 10596354], [10659294, 10659423], [10678388, 10678474], [10683075, 10683178], [10684396, 10684494], [10687328, 10687420], [10689587, 10690044]]
ENST00000538836	[[10535007, 10535059], [10555330, 10555378], [10659294, 10659423], [10678388, 10678474], [10683075, 10683178], [10684396, 10684494], [10687328, 10687420], [10689587, 10690372]]	[[10659317, 10659423], [10678388, 10678474], [10683075, 10683178], [10684396, 10684494], [10687328, 10687420], [10689587, 10690044]]
ENST00000491661	[[10535038, 10535059], [10555330, 10555378], [10596269, 10596354], [10659294, 10659423], [10678388, 10678474], [10683075, 10683343]]	[[10535038, 10535059], [10555330, 10555378], [10596269, 10596354], [10659294, 10659423], [10678388, 10678474], [10683075, 10683189]]
ENST00000472851	[[10532344, 10532637], [10555330, 10555378], [10577084, 10577188], [10596269, 10596629]]	None
ENST00000492696	[[10595944, 10596117], [10596269, 10596346]]	None
NM_004565	[[10535002, 10535059], [10555330, 10555378], [10596269, 10596354], [10659294, 10659423], [10678388, 10678474], [10683075, 10683178], [10684396, 10684494], [10687328, 10687420], [10689587, 10690815]]	[[10535023, 10535059], [10555330, 10555378], [10596269, 10596354], [10659294, 10659423], [10678388, 10678474], [10683075, 10683178], [10684396, 10684494], [10687328, 10687420], [10689587, 10690044]]

Promoter

Chrom	Start	End	Description
chr1	10534993	10535025	CAGE_peak_1_at_PEX14_5end
chr1	10596058	10596063	CAGE_peak_4_at_PEX14_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	GH01I010518	10518979	10519925	0.8	[{'connected_gene': 'PEX14', 'score': 7.45}, {'connected_gene': 'PGD', 'score': 4.18}, {'connected_gene': 'GC01P010513', 'score': 0.44}, {'connected_gene': 'PIR58493', 'score': 0.37}]
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	GH01I010630	10630295	10633965	0.43	[{'connected_gene': 'PGD', 'score': 5.66}, {'connected_gene': 'GC01P010626', 'score': 0.44}, {'connected_gene': 'ENSG00000272078', 'score': 0.44}, {'connected_gene': 'PEX14', 'score': 0.1}]
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	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	GH01I010621	10621734	10622508	0.31	[{'connected_gene': 'PGD', 'score': 4.21}, {'connected_gene': 'GC01P010626', 'score': 0.77}, {'connected_gene': 'RN7SL614P', 'score': 0.44}, {'connected_gene': 'PEX14', 'score': 0.11}]
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	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	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	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	GH01I010628	10628114	10630205	0.63	[{'connected_gene': 'GC01P010626', 'score': 0.77}, {'connected_gene': 'ENSG00000272078', 'score': 0.39}, {'connected_gene': 'PEX14', 'score': 0.1}]
chr1	GH01I010537	10537647	10537852	1.09	[{'connected_gene': 'PIR58493', 'score': 550.77}, {'connected_gene': 'GC01P010513', 'score': 0.34}, {'connected_gene': 'PEX14', 'score': 0.2}]
chr1	GH01I010593	10593723	10594112	0.51	[{'connected_gene': 'GC01P010598', 'score': 0.77}, {'connected_gene': 'PIR58493', 'score': 0.23}, {'connected_gene': 'PEX14', 'score': 0.13}]
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}]
chr1	GH01I010539	10539456	10541605	1.14	[{'connected_gene': 'PIR58493', 'score': 550.77}, {'connected_gene': 'PGD', 'score': 14.06}, {'connected_gene': 'C1orf127', 'score': 9.8}, {'connected_gene': 'GC01P010598', 'score': 0.22}, {'connected_gene': 'PEX14', 'score': 0.2}]
chr1	GH01I010624	10624119	10627799	0.62	[{'connected_gene': 'GC01P010626', 'score': 550.77}, {'connected_gene': 'PGD', 'score': 5.57}, {'connected_gene': 'RN7SL614P', 'score': 0.44}, {'connected_gene': 'PEX14', 'score': 0.1}]
chr1	GH01I010602	10602430	10602646	0.58	[{'connected_gene': 'GC01P010598', 'score': 0.77}, {'connected_gene': 'RN7SL614P', 'score': 0.39}, {'connected_gene': 'PEX14', 'score': 0.12}]
chr1	GH01I010623	10623202	10623432	0.71	[{'connected_gene': 'GC01P010626', 'score': 0.77}, {'connected_gene': 'RN7SL614P', 'score': 0.44}, {'connected_gene': 'PEX14', 'score': 0.1}]
chr1	GH01I010598	10598007	10600456	1.42	[{'connected_gene': 'GC01P010598', 'score': 550.77}, {'connected_gene': 'RN7SL614P', 'score': 5.39}, {'connected_gene': 'PGD', 'score': 4.83}, {'connected_gene': 'PEX14', 'score': 0.13}]