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
ENST00000259460	[[127962820, 127962856], [127963058, 127963185], [127965286, 127965345], [127969842, 127970000], [127982817, 127982979], [127990188, 127990338], [127994874, 127995024], [127995966, 127996437]]	[[127965292, 127965345], [127969842, 127970000], [127982817, 127982979], [127990188, 127990338], [127994874, 127995024], [127995966, 127996259]]
ENST00000394125	[[127962820, 127962856], [127963058, 127963185], [127965286, 127965345], [127969842, 127970000], [127975648, 127975801], [127982817, 127982979], [127990188, 127990338], [127994874, 127995024], [127995966, 127996437]]	[[127965292, 127965345], [127969842, 127970000], [127975648, 127975801], [127982817, 127982979], [127990188, 127990338], [127994874, 127995024], [127995966, 127996259]]
ENST00000373544	[[127962823, 127962856], [127963058, 127963185], [127965286, 127965345], [127969842, 127970000], [127975648, 127975801], [127982605, 127982676], [127982817, 127984666]]	[[127965292, 127965345], [127969842, 127970000], [127975648, 127975801], [127982605, 127982676], [127982817, 127982847]]
ENST00000394124	[[127962840, 127962856], [127963058, 127963185], [127965286, 127965345], [127969842, 127970000], [127975648, 127975801], [127982605, 127982676], [127982817, 127982979], [127990188, 127990338], [127994874, 127995024], [127995966, 127996285]]	[[127965292, 127965345], [127969842, 127970000], [127975648, 127975801], [127982605, 127982676], [127982817, 127982847]]
ENST00000373538	[[127962881, 127963185], [127965286, 127965345], [127969842, 127970000], [127975648, 127975801], [127982817, 127982979], [127990188, 127990338], [127994874, 127995024], [127995966, 127996334]]	[[127965292, 127965345], [127969842, 127970000], [127975648, 127975801], [127982817, 127982979], [127990188, 127990338], [127994874, 127995024], [127995966, 127996259]]
ENST00000416065	[[127962883, 127963185], [127969842, 127970000], [127975648, 127975801], [127982817, 127982937]]	[[127962883, 127963185], [127969842, 127970000], [127975648, 127975801], [127982817, 127982937]]
NM_001174153	[[127962820, 127962856], [127963058, 127963185], [127965286, 127965345], [127969842, 127970000], [127982817, 127982979], [127990188, 127990338], [127994874, 127995024], [127995966, 127996438]]	[[127965292, 127965345], [127969842, 127970000], [127982817, 127982979], [127990188, 127990338], [127994874, 127995024], [127995966, 127996259]]
NM_001174152	[[127962820, 127962856], [127963058, 127963185], [127965286, 127965345], [127969842, 127970000], [127975648, 127975801], [127982817, 127982979], [127990188, 127990338], [127994874, 127995024], [127995966, 127996438]]	[[127965292, 127965345], [127969842, 127970000], [127975648, 127975801], [127982817, 127982979], [127990188, 127990338], [127994874, 127995024], [127995966, 127996259]]
NM_005833	[[127962861, 127963185], [127965286, 127965345], [127969842, 127970000], [127975648, 127975801], [127982817, 127982979], [127990188, 127990338], [127994874, 127995024], [127995966, 127996438]]	[[127965292, 127965345], [127969842, 127970000], [127975648, 127975801], [127982817, 127982979], [127990188, 127990338], [127994874, 127995024], [127995966, 127996259]]

Promoter

Chrom	Start	End	Description
chr9	127962795	127962834	CAGE_peak_1_at_RABEPK_5end
chr9	127962844	127962855	CAGE_peak_3_at_RABEPK_5end
chr9	127962856	127962869	CAGE_peak_2_at_RABEPK_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr9	GH09I125176	125176785	125177585	0.73	[{'connected_gene': 'NDUFB3P2', 'score': 550.77}, {'connected_gene': 'RABEPK', 'score': 17.66}, {'connected_gene': 'PPP6C', 'score': 0.39}, {'connected_gene': 'PRPS1P2', 'score': 0.31}]
chr9	GH09I124894	124894682	124894891	0.66	[{'connected_gene': 'ARPC5L', 'score': 12.24}, {'connected_gene': 'RPL35', 'score': 12.24}, {'connected_gene': 'WDR38', 'score': 12.21}, {'connected_gene': 'RABEPK', 'score': 10.45}, {'connected_gene': 'RPSAP76', 'score': 10.45}, {'connected_gene': 'GC09M124888', 'score': 0.44}, {'connected_gene': 'RNU4-82P', 'score': 0.44}, {'connected_gene': 'GC09P124941', 'score': 0.25}, {'connected_gene': 'GOLGA1', 'score': 0.23}]
chr9	GH09I124897	124897373	124898395	0.82	[{'connected_gene': 'ARPC5L', 'score': 26.77}, {'connected_gene': 'RPL35', 'score': 12.22}, {'connected_gene': 'WDR38', 'score': 12.21}, {'connected_gene': 'RPSAP76', 'score': 10.45}, {'connected_gene': 'RABEPK', 'score': 10.45}, {'connected_gene': 'GOLGA1', 'score': 8.57}, {'connected_gene': 'GC09M124888', 'score': 0.39}, {'connected_gene': 'RNU4-82P', 'score': 0.39}, {'connected_gene': 'GC09P124941', 'score': 0.26}]
chr9	GH09I124858	124858023	124864492	2.25	[{'connected_gene': 'ARPC5L', 'score': 565.01}, {'connected_gene': 'RPL35', 'score': 550.77}, {'connected_gene': 'GAPVD1', 'score': 19.93}, {'connected_gene': 'GOLGA1', 'score': 16.89}, {'connected_gene': 'PRPS1P2', 'score': 13.73}, {'connected_gene': 'RABEPK', 'score': 6.29}, {'connected_gene': 'WDR38', 'score': 0.44}]
chr9	GH09I125189	125188600	125191108	2.05	[{'connected_gene': 'PPP6C', 'score': 550.77}, {'connected_gene': 'RABEPK', 'score': 19.55}, {'connected_gene': 'PRPS1P2', 'score': 13.16}, {'connected_gene': 'GAPVD1', 'score': 10.9}, {'connected_gene': 'RNU6-1020P', 'score': 10.02}, {'connected_gene': 'NDUFB3P2', 'score': 0.39}]
chr9	GH09I125643	125643868	125652531	1.84	[{'connected_gene': 'PBX3', 'score': 6.27}, {'connected_gene': 'MAPKAP1', 'score': 5.18}, {'connected_gene': 'RABEPK', 'score': 4.11}, {'connected_gene': 'HNRNPA1P15', 'score': 0.23}]
chr9	GH09I125142	125142235	125144191	2.19	[{'connected_gene': 'SCAI', 'score': 550.77}, {'connected_gene': 'GAPVD1', 'score': 22.81}, {'connected_gene': 'RABEPK', 'score': 16.51}, {'connected_gene': 'GOLGA1', 'score': 12.4}, {'connected_gene': 'GC09P125105', 'score': 0.28}]
chr9	GH09I125095	125095040	125095835	0.38	[{'connected_gene': 'SCAI', 'score': 16.15}, {'connected_gene': 'RABEPK', 'score': 15.89}, {'connected_gene': 'OLFML2A', 'score': 4.42}, {'connected_gene': 'GC09P125105', 'score': 0.44}, {'connected_gene': 'GC09M125042', 'score': 0.23}]
chr9	GH09I125119	125119567	125123348	0.87	[{'connected_gene': 'SCAI', 'score': 16.24}, {'connected_gene': 'RABEPK', 'score': 15.96}, {'connected_gene': 'PRPS1P2', 'score': 14.04}, {'connected_gene': 'GC09P125105', 'score': 0.37}]
chr9	GH09I125238	125238117	125244755	2.29	[{'connected_gene': 'GAPVD1', 'score': 589.95}, {'connected_gene': 'HSPA5', 'score': 550.77}, {'connected_gene': 'GC09M125241', 'score': 550.77}, {'connected_gene': 'ENSG00000239705', 'score': 550.77}, {'connected_gene': 'GOLGA1', 'score': 22.95}, {'connected_gene': 'PRPS1P2', 'score': 22.57}, {'connected_gene': 'RABEPK', 'score': 14.15}, {'connected_gene': 'RPL35', 'score': 9.67}, {'connected_gene': 'OLFML2A', 'score': 4.32}]
chr9	GH09I125374	125374401	125375183	0.96	[{'connected_gene': 'GAPVD1', 'score': 25.57}, {'connected_gene': 'RNU6-1020P', 'score': 11.26}, {'connected_gene': 'RPSAP76', 'score': 10.79}, {'connected_gene': 'RABEPK', 'score': 10.79}, {'connected_gene': 'ARPC5L', 'score': 10.41}, {'connected_gene': 'RPL35', 'score': 10.41}, {'connected_gene': 'WDR38', 'score': 10.41}, {'connected_gene': 'PPP6C', 'score': 9.86}, {'connected_gene': 'ENSG00000227845', 'score': 0.77}, {'connected_gene': 'GC09P125379', 'score': 0.77}]
chr9	GH09I125328	125328852	125329331	0.71	[{'connected_gene': 'GAPVD1', 'score': 26.55}, {'connected_gene': 'RABEPK', 'score': 10.96}, {'connected_gene': 'RPSAP76', 'score': 10.94}, {'connected_gene': 'RNU6-1020P', 'score': 0.31}, {'connected_gene': 'GC09M125304', 'score': 0.31}, {'connected_gene': 'ENSG00000227845', 'score': 0.26}]
chr9	GH09I125325	125325902	125326131	0.66	[{'connected_gene': 'GAPVD1', 'score': 11.71}, {'connected_gene': 'RABEPK', 'score': 10.96}, {'connected_gene': 'RPSAP76', 'score': 10.94}, {'connected_gene': 'RNU6-1020P', 'score': 0.34}, {'connected_gene': 'GC09M125304', 'score': 0.34}, {'connected_gene': 'ENSG00000227845', 'score': 0.25}]
chr9	GH09I125260	125260430	125263042	2.25	[{'connected_gene': 'GAPVD1', 'score': 566.55}, {'connected_gene': 'RABEPK', 'score': 11.11}, {'connected_gene': 'RPSAP76', 'score': 11.1}, {'connected_gene': 'GC09M125264', 'score': 0.77}, {'connected_gene': 'ENSG00000239705', 'score': 0.34}]
chr9	GH09I125116	125116882	125117510	0.2	[{'connected_gene': 'RABEPK', 'score': 27.36}, {'connected_gene': 'SCAI', 'score': 12.51}, {'connected_gene': 'RPSAP76', 'score': 11.59}, {'connected_gene': 'PRPS1P2', 'score': 5.46}, {'connected_gene': 'GC09P125105', 'score': 0.39}]
chr9	GH09I125233	125233092	125235169	0.87	[{'connected_gene': 'RABEPK', 'score': 16.4}, {'connected_gene': 'SCAI', 'score': 7.17}, {'connected_gene': 'MIR181A2HG', 'score': 5.66}, {'connected_gene': 'PRPS1P2', 'score': 5.1}, {'connected_gene': 'GC09M125241', 'score': 0.44}, {'connected_gene': 'HSPA5', 'score': 0.44}]
chr9	GH09I125198	125198913	125201864	2.04	[{'connected_gene': 'RABEPK', 'score': 569.63}, {'connected_gene': 'LOC105376271', 'score': 550.77}, {'connected_gene': 'PRPS1P2', 'score': 13.77}, {'connected_gene': 'SCAI', 'score': 12.62}, {'connected_gene': 'GAPVD1', 'score': 4.4}, {'connected_gene': 'RPSAP76', 'score': 0.77}]
chr9	GH09I125160	125160942	125161800	0.79	[{'connected_gene': 'RABEPK', 'score': 16.17}, {'connected_gene': 'PRPS1P2', 'score': 5.13}, {'connected_gene': 'NDUFB3P2', 'score': 0.37}, {'connected_gene': 'PPP6C', 'score': 0.31}]
chr9	GH09I125124	125124989	125128337	1.19	[{'connected_gene': 'RABEPK', 'score': 18.53}, {'connected_gene': 'PRPS1P2', 'score': 7.48}, {'connected_gene': 'SCAI', 'score': 0.37}, {'connected_gene': 'GC09P125105', 'score': 0.34}]
chr9	GH09I125194	125194227	125196525	0.58	[{'connected_gene': 'RPSAP76', 'score': 550.77}, {'connected_gene': 'PIR61908', 'score': 550.77}, {'connected_gene': 'RABEPK', 'score': 16.8}, {'connected_gene': 'GAPVD1', 'score': 15.11}, {'connected_gene': 'SCAI', 'score': 13.25}, {'connected_gene': 'RNU6-1020P', 'score': 10.02}, {'connected_gene': 'PPP6C', 'score': 0.44}]
chr9	GH09I125236	125236167	125237472	0.49	[{'connected_gene': 'GC09M125241', 'score': 0.77}, {'connected_gene': 'HSPA5', 'score': 0.77}, {'connected_gene': 'RABEPK', 'score': 0.28}]
chr9	GH09I125237	125235862	125236011	0.49	[{'connected_gene': 'GC09M125241', 'score': 0.44}, {'connected_gene': 'HSPA5', 'score': 0.44}, {'connected_gene': 'RABEPK', 'score': 0.28}]
chr9	GH09I125235	125235562	125235731	0.6	[{'connected_gene': 'GC09M125241', 'score': 0.44}, {'connected_gene': 'HSPA5', 'score': 0.44}, {'connected_gene': 'RABEPK', 'score': 0.28}]