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
ENST00000373547	[[127908851, 127912200], [127915811, 127916021], [127916184, 127916264], [127920519, 127920661], [127923119, 127923185], [127933363, 127933459], [127951922, 127952097]]	[[127911951, 127912200], [127915811, 127916021], [127916184, 127916264], [127920519, 127920661], [127923119, 127923185], [127933363, 127933459], [127951922, 127951997]]
ENST00000415905	[[127908852, 127912200], [127915811, 127916021], [127916184, 127916264], [127920519, 127920661], [127933363, 127933459], [127951922, 127952218]]	[[127911951, 127912200], [127915811, 127916021], [127916184, 127916264], [127920519, 127920661], [127933363, 127933459], [127951922, 127951997]]
ENST00000451402	[[127908852, 127912200], [127915811, 127916021], [127916184, 127916264], [127920519, 127920661], [127923119, 127923185], [127933363, 127933459], [127951197, 127951226], [127951840, 127952218]]	[[127911951, 127912200], [127915811, 127916021], [127916184, 127916264], [127920519, 127920661], [127923119, 127923185], [127933363, 127933459], [127951197, 127951226], [127951840, 127951997]]
ENST00000373546	[[127911775, 127912200], [127915811, 127916021], [127916184, 127916264], [127933363, 127933459], [127951922, 127952071]]	[[127911951, 127912200], [127915811, 127916021], [127916184, 127916202]]
ENST00000456642	[[127916232, 127916264], [127920519, 127920661], [127923119, 127923185], [127933363, 127933459], [127934187, 127934280], [127951922, 127952062]]	[[127916232, 127916264], [127920519, 127920661], [127923119, 127923185], [127933363, 127933459], [127934187, 127934226]]
NM_001123355	[[127908851, 127912200], [127915811, 127916021], [127916184, 127916264], [127920519, 127920661], [127923119, 127923185], [127933363, 127933459], [127951197, 127951226], [127951840, 127952218]]	[[127911951, 127912200], [127915811, 127916021], [127916184, 127916264], [127920519, 127920661], [127923119, 127923185], [127933363, 127933459], [127951197, 127951226], [127951840, 127951997]]
NM_002721	[[127908851, 127912200], [127915811, 127916021], [127916184, 127916264], [127920519, 127920661], [127923119, 127923185], [127933363, 127933459], [127951922, 127952218]]	[[127911951, 127912200], [127915811, 127916021], [127916184, 127916264], [127920519, 127920661], [127923119, 127923185], [127933363, 127933459], [127951922, 127951997]]
NM_001123369	[[127908851, 127912200], [127915811, 127916021], [127916184, 127916264], [127920519, 127920661], [127933363, 127933459], [127951922, 127952218]]	[[127911951, 127912200], [127915811, 127916021], [127916184, 127916264], [127920519, 127920661], [127933363, 127933459], [127951922, 127951997]]

Promoter

Chrom	Start	End	Description
chr9	127952000	127952014	CAGE_peak_2_at_PPP6C_5end
chr9	127952016	127952027	CAGE_peak_3_at_PPP6C_5end
chr9	127952032	127952098	CAGE_peak_1_at_PPP6C_5end
chr9	127952102	127952113	CAGE_peak_4_at_PPP6C_5end
chr9	127952187	127952202	CAGE_peak_5_at_PPP6C_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr9	GH09I125172	125172401	125172600	0.52	[{'connected_gene': 'NDUFB3P2', 'score': 0.44}, {'connected_gene': 'PPP6C', 'score': 0.37}, {'connected_gene': 'PRPS1P2', 'score': 0.34}]
chr9	GH09I125181	125181094	125181116	0.33	[{'connected_gene': 'NDUFB3P2', 'score': 0.77}, {'connected_gene': 'PPP6C', 'score': 0.44}]
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	GH09I124880	124880928	124881759	0.31	[{'connected_gene': 'ARPC5L', 'score': 13.02}, {'connected_gene': 'WDR38', 'score': 12.15}, {'connected_gene': 'OLFML2A', 'score': 11.68}, {'connected_gene': 'GOLGA1', 'score': 10.51}, {'connected_gene': 'PPP6C', 'score': 4.35}, {'connected_gene': 'RNU4-82P', 'score': 0.44}, {'connected_gene': 'GC09M124888', 'score': 0.44}]
chr9	GH09I125188	125188447	125188551	0.31	[{'connected_gene': 'PPP6C', 'score': 550.77}, {'connected_gene': 'NDUFB3P2', 'score': 0.44}]
chr9	GH09I125182	125182158	125182477	0.41	[{'connected_gene': 'PPP6C', 'score': 2.32}, {'connected_gene': 'GAPVD1', 'score': 1.85}, {'connected_gene': 'NR6A1', 'score': 1.33}, {'connected_gene': 'GOLGA1', 'score': 1.16}, {'connected_gene': 'NDUFB3P2', 'score': 0.77}]
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	GH09I125744	125744742	125749601	2.08	[{'connected_gene': 'PBX3', 'score': 565.38}, {'connected_gene': 'LOC51145', 'score': 550.77}, {'connected_gene': 'GOLGA1', 'score': 24.8}, {'connected_gene': 'GAPVD1', 'score': 24.15}, {'connected_gene': 'PRPS1P2', 'score': 12.71}, {'connected_gene': 'PPP6C', 'score': 4.54}]
chr9	GH09I125630	125630888	125634968	2.25	[{'connected_gene': 'PBX3', 'score': 6.38}, {'connected_gene': 'HSPA5', 'score': 2.0}, {'connected_gene': 'PPP6C', 'score': 1.59}, {'connected_gene': 'GAPVD1', 'score': 1.13}, {'connected_gene': 'HNRNPA1P15', 'score': 0.28}, {'connected_gene': 'MAPKAP1', 'score': 0.19}]
chr9	GH09I124933	124933661	124935590	0.43	[{'connected_gene': 'SCAI', 'score': 11.12}, {'connected_gene': 'ARPC5L', 'score': 10.91}, {'connected_gene': 'RPL35', 'score': 10.91}, {'connected_gene': 'WDR38', 'score': 10.9}, {'connected_gene': 'PPP6C', 'score': 10.51}, {'connected_gene': 'GC09P124941', 'score': 0.44}, {'connected_gene': 'GOLGA1', 'score': 0.39}, {'connected_gene': 'GC09M124888', 'score': 0.25}, {'connected_gene': 'RNU4-82P', 'score': 0.25}]
chr9	GH09I124973	124973742	124974185	0.6	[{'connected_gene': 'SCAI', 'score': 11.72}, {'connected_gene': 'ARPC5L', 'score': 10.74}, {'connected_gene': 'RPL35', 'score': 10.74}, {'connected_gene': 'WDR38', 'score': 10.73}, {'connected_gene': 'PPP6C', 'score': 10.34}, {'connected_gene': 'FXNP2', 'score': 0.44}, {'connected_gene': 'GC09M125042', 'score': 0.19}]
chr9	GH09I125271	125271602	125273382	1.29	[{'connected_gene': 'GAPVD1', 'score': 28.79}, {'connected_gene': 'RNU6-1020P', 'score': 12.43}, {'connected_gene': 'PPP6C', 'score': 10.68}, {'connected_gene': 'RPS10P17', 'score': 0.44}, {'connected_gene': 'GC09M125304', 'score': 0.29}]
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	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	GH09I125407	125407601	125411372	1.49	[{'connected_gene': 'LOC101929014', 'score': 550.77}, {'connected_gene': 'GAPVD1', 'score': 43.64}, {'connected_gene': 'GOLGA1', 'score': 40.96}, {'connected_gene': 'PRPS1P2', 'score': 34.39}, {'connected_gene': 'LOC101929116', 'score': 11.68}, {'connected_gene': 'OLFML2A', 'score': 11.37}, {'connected_gene': 'PPP6C', 'score': 5.26}, {'connected_gene': 'PBX3', 'score': 4.44}, {'connected_gene': 'GC09P125397', 'score': 0.39}]
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	GH09I125183	125182612	125184000	0.69	[{'connected_gene': 'PRPS1P2', 'score': 13.15}, {'connected_gene': 'NDUFB3P2', 'score': 0.77}, {'connected_gene': 'PPP6C', 'score': 0.44}]
chr9	GH09I124201	124201602	124204200	1.6	[{'connected_gene': 'GC09M124203', 'score': 550.77}, {'connected_gene': 'PPP6C', 'score': 4.07}, {'connected_gene': 'LOC105376268', 'score': 0.09}]
chr9	GH09I124939	124939808	124942809	2.07	[{'connected_gene': 'GC09P124941', 'score': 550.77}, {'connected_gene': 'GOLGA1', 'score': 550.44}, {'connected_gene': 'ARPC5L', 'score': 14.3}, {'connected_gene': 'SCAI', 'score': 10.67}, {'connected_gene': 'PPP6C', 'score': 9.92}, {'connected_gene': 'GAPVD1', 'score': 6.46}, {'connected_gene': 'GC09M124944', 'score': 0.77}]