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
ENST00000378566	[[35104108, 35105371], [35105678, 35105854], [35105937, 35106006], [35106248, 35106407], [35106534, 35106640], [35106829, 35106888], [35107377, 35107565], [35108124, 35108346], [35108590, 35108734], [35115667, 35115847]]	[[35105217, 35105371], [35105678, 35105854], [35105937, 35106006], [35106248, 35106407], [35106534, 35106640], [35106829, 35106867]]
ENST00000603301	[[35104117, 35105371], [35105678, 35105854], [35105937, 35106006], [35106248, 35106407], [35106534, 35106640], [35106829, 35106888], [35107377, 35108346], [35108590, 35108734], [35111265, 35111585]]	[[35105217, 35105371], [35105678, 35105854], [35105937, 35106006], [35106248, 35106407], [35106534, 35106640], [35106829, 35106888], [35107377, 35108271]]
ENST00000488109	[[35104117, 35105371], [35105678, 35105854], [35105937, 35106006], [35106248, 35106407], [35106534, 35106640], [35106829, 35106888], [35107377, 35108346], [35108590, 35108734], [35112326, 35112389]]	[[35105217, 35105371], [35105678, 35105854], [35105937, 35106006], [35106248, 35106407], [35106534, 35106640], [35106829, 35106888], [35107377, 35108271]]
ENST00000322813	[[35104117, 35105371], [35105678, 35105854], [35105937, 35106006], [35106248, 35106407], [35106534, 35106640], [35106829, 35106888], [35107377, 35108346], [35108590, 35108734], [35115801, 35115893]]	[[35105217, 35105371], [35105678, 35105854], [35105937, 35106006], [35106248, 35106407], [35106534, 35106640], [35106829, 35106888], [35107377, 35108271]]
ENST00000605244	[[35104117, 35105371], [35105678, 35105854], [35105937, 35106006], [35106248, 35106407], [35106534, 35106640], [35106829, 35106888], [35107377, 35108346], [35108590, 35108734], [35116258, 35116338]]	[[35105217, 35105371], [35105678, 35105854], [35105937, 35106006], [35106248, 35106407], [35106534, 35106640], [35106829, 35106888], [35107377, 35108271]]
ENST00000378561	[[35104119, 35105371], [35105678, 35105854], [35105937, 35106006], [35106248, 35106407], [35106534, 35106640], [35106829, 35106888], [35107377, 35108346], [35108590, 35111571]]	[[35105217, 35105371], [35105678, 35105854], [35105937, 35106006], [35106248, 35106407], [35106534, 35106640], [35106829, 35106888], [35107377, 35108271]]
ENST00000378557	[[35104138, 35105371], [35105678, 35105854], [35105937, 35106006], [35106248, 35106407], [35106534, 35106640], [35106829, 35106888], [35107377, 35108346], [35108590, 35108734], [35111265, 35111420]]	[[35105217, 35105371], [35105678, 35105854], [35105937, 35106006], [35106248, 35106407], [35106534, 35106640], [35106829, 35106888], [35107377, 35108271]]
ENST00000378554	[[35104165, 35104643], [35105837, 35105854], [35105937, 35106006], [35106248, 35106407], [35106534, 35106640], [35106829, 35106888], [35107377, 35108346], [35108590, 35108734], [35115667, 35115875]]	[[35104618, 35104643], [35105837, 35105854], [35105937, 35106006], [35106248, 35106407], [35106534, 35106640], [35106829, 35106888], [35107377, 35108271]]
ENST00000605104	[[35108231, 35108734], [35115801, 35115859]]	None
ENST00000605392	[[35108341, 35108734], [35115667, 35115859]]	None
NM_001317991	[[35104117, 35105371], [35105678, 35105854], [35105937, 35106006], [35106248, 35106407], [35106534, 35106640], [35106829, 35106888], [35107377, 35108346], [35108590, 35108734], [35111265, 35111371]]	[[35105217, 35105371], [35105678, 35105854], [35105937, 35106006], [35106248, 35106407], [35106534, 35106640], [35106829, 35106888], [35107377, 35108271]]
NM_025182	[[35104117, 35105371], [35105678, 35105854], [35105937, 35106006], [35106248, 35106407], [35106534, 35106640], [35106829, 35106888], [35107377, 35108346], [35108590, 35108734], [35115801, 35115908]]	[[35105217, 35105371], [35105678, 35105854], [35105937, 35106006], [35106248, 35106407], [35106534, 35106640], [35106829, 35106888], [35107377, 35108271]]
NR_134455	[[35104117, 35105371], [35105678, 35105854], [35105937, 35106006], [35106248, 35106407], [35106534, 35106640], [35106829, 35106888], [35107377, 35107565], [35108124, 35108346], [35108590, 35108734], [35115667, 35115969]]	None

Promoter

Chrom	Start	End	Description
chr9	35111433	35111455	CAGE_peak_2_at_FAM214B_5end
chr9	35111539	35111561	CAGE_peak_4_at_FAM214B_5end
chr9	35111570	35111600	CAGE_peak_5_at_FAM214B_5end
chr9	35111601	35111612	CAGE_peak_7_at_FAM214B_5end
chr9	35115836	35115891	CAGE_peak_1_at_FAM214B_5end
chr9	35115902	35115913	CAGE_peak_3_at_FAM214B_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr9	GH09I035487	35487768	35493221	2.51	[{'connected_gene': 'RUSC2', 'score': 556.34}, {'connected_gene': 'LOC105376026', 'score': 550.77}, {'connected_gene': 'PIGO', 'score': 27.71}, {'connected_gene': 'RGP1', 'score': 13.06}, {'connected_gene': 'FANCG', 'score': 12.74}, {'connected_gene': 'ARHGEF39', 'score': 12.28}, {'connected_gene': 'TMEM8B', 'score': 11.3}, {'connected_gene': 'FAM214B', 'score': 10.7}, {'connected_gene': 'SPAG8', 'score': 10.52}, {'connected_gene': 'FAM166B', 'score': 10.35}, {'connected_gene': 'HMGB3P24', 'score': 9.68}, {'connected_gene': 'UNC13B', 'score': 9.55}, {'connected_gene': 'GBA2', 'score': 9.54}, {'connected_gene': 'OR13J1', 'score': 3.11}, {'connected_gene': 'CREB3', 'score': 2.1}, {'connected_gene': 'TPM2', 'score': 1.84}, {'connected_gene': 'CCDC107', 'score': 1.55}]
chr9	GH09I035108	35108527	35117534	2.61	[{'connected_gene': 'FAM214B', 'score': 573.1}, {'connected_gene': 'PIGO', 'score': 26.02}, {'connected_gene': 'SPAG8', 'score': 12.38}, {'connected_gene': 'TMEM8B', 'score': 11.3}, {'connected_gene': 'RUSC2', 'score': 11.18}, {'connected_gene': 'ARHGEF39', 'score': 10.52}, {'connected_gene': 'VCP', 'score': 10.01}, {'connected_gene': 'FANCG', 'score': 7.87}, {'connected_gene': 'UNC13B', 'score': 5.84}, {'connected_gene': 'DNAJB5', 'score': 1.98}, {'connected_gene': 'STOML2', 'score': 0.44}]
chr9	GH09I035486	35486446	35487741	0.2	[{'connected_gene': 'FAM214B', 'score': 10.7}, {'connected_gene': 'FAM166B', 'score': 10.34}, {'connected_gene': 'UNC13B', 'score': 9.55}, {'connected_gene': 'GBA2', 'score': 9.54}, {'connected_gene': 'PIGO', 'score': 4.36}, {'connected_gene': 'FANCG', 'score': 4.06}, {'connected_gene': 'RUSC2', 'score': 0.77}, {'connected_gene': 'PIR41937', 'score': 0.44}]
chr9	GH09I035475	35475609	35476944	0.31	[{'connected_gene': 'FAM214B', 'score': 11.51}, {'connected_gene': 'PIR41937', 'score': 0.77}, {'connected_gene': 'PIR61897', 'score': 0.34}, {'connected_gene': 'ATP8B5P', 'score': 0.2}]
chr9	GH09I035477	35477324	35477493	0.78	[{'connected_gene': 'FAM214B', 'score': 11.51}, {'connected_gene': 'PIR41937', 'score': 0.77}, {'connected_gene': 'PIR61897', 'score': 0.34}, {'connected_gene': 'ATP8B5P', 'score': 0.19}]
chr9	GH09I035463	35463916	35465222	0.38	[{'connected_gene': 'FAM214B', 'score': 11.16}, {'connected_gene': 'UNC13B', 'score': 10.17}, {'connected_gene': 'PIR61897', 'score': 0.44}, {'connected_gene': 'PIR41937', 'score': 0.37}, {'connected_gene': 'ATP8B5P', 'score': 0.22}]
chr9	GH09I035164	35164475	35165410	0.2	[{'connected_gene': 'FAM214B', 'score': 10.93}, {'connected_gene': 'UNC13B', 'score': 0.77}, {'connected_gene': 'GC09P035160', 'score': 0.44}, {'connected_gene': 'GC09M035178', 'score': 0.37}]
chr9	GH09I034986	34986334	34987893	1.14	[{'connected_gene': 'VCP', 'score': 12.34}, {'connected_gene': 'PIGO', 'score': 4.33}, {'connected_gene': 'DNAJB5', 'score': 1.85}, {'connected_gene': 'FAM214B', 'score': 1.6}, {'connected_gene': 'DNAJB5-AS1', 'score': 0.77}, {'connected_gene': 'PIR62069', 'score': 0.44}]
chr9	GH09I035101	35101665	35104758	2.27	[{'connected_gene': 'STOML2', 'score': 550.77}, {'connected_gene': 'PIGO', 'score': 48.12}, {'connected_gene': 'FANCG', 'score': 10.9}, {'connected_gene': 'VCP', 'score': 10.9}, {'connected_gene': 'ARHGEF39', 'score': 10.52}, {'connected_gene': 'FAM214B', 'score': 0.39}]
chr9	GH09I035078	35078044	35080862	1.99	[{'connected_gene': 'FANCG', 'score': 565.41}, {'connected_gene': 'VCP', 'score': 21.32}, {'connected_gene': 'ENSG00000228352', 'score': 16.36}, {'connected_gene': 'RGP1', 'score': 13.02}, {'connected_gene': 'ARHGEF39', 'score': 12.22}, {'connected_gene': 'PIGO', 'score': 12.01}, {'connected_gene': 'STOML2', 'score': 11.57}, {'connected_gene': 'FAM214B', 'score': 5.22}, {'connected_gene': 'PIR34260', 'score': 0.44}]
chr9	GH09I035423	35423152	35425007	0.8	[{'connected_gene': 'UNC13B', 'score': 10.54}, {'connected_gene': 'FAM214B', 'score': 4.12}, {'connected_gene': 'ATP8B5P', 'score': 0.37}, {'connected_gene': 'ZFAND6P1', 'score': 0.31}]
chr9	GH09I035257	35257625	35259093	1	[{'connected_gene': 'UNC13B', 'score': 11.15}, {'connected_gene': 'STOML2', 'score': 10.47}, {'connected_gene': 'ENSG00000234181', 'score': 10.46}, {'connected_gene': 'PIGO', 'score': 10.46}, {'connected_gene': 'FAM214B', 'score': 4.81}, {'connected_gene': 'FAM205C', 'score': 4.57}, {'connected_gene': 'GC09M035186', 'score': 0.19}, {'connected_gene': 'ENSG00000279083', 'score': 0.15}]
chr9	GH09I035161	35161011	35163656	1.99	[{'connected_gene': 'UNC13B', 'score': 561.4}, {'connected_gene': 'NPR2', 'score': 11.81}, {'connected_gene': 'OR13E1P', 'score': 11.75}, {'connected_gene': 'HRCT1', 'score': 11.06}, {'connected_gene': 'FAM214B', 'score': 10.93}, {'connected_gene': 'TMEM8B', 'score': 10.03}, {'connected_gene': 'GC09P035160', 'score': 0.77}, {'connected_gene': 'GC09M035178', 'score': 0.37}]
chr9	GH09I035481	35481600	35481800	0.79	[{'connected_gene': 'PIR41937', 'score': 550.77}, {'connected_gene': 'FAM214B', 'score': 10.7}, {'connected_gene': 'FAM166B', 'score': 10.33}, {'connected_gene': 'UNC13B', 'score': 9.56}, {'connected_gene': 'GBA2', 'score': 9.53}, {'connected_gene': 'RUSC2', 'score': 0.44}, {'connected_gene': 'ATP8B5P', 'score': 0.19}]
chr9	GH09I035157	35157741	35158573	0.38	[{'connected_gene': 'GC09P035160', 'score': 550.77}, {'connected_gene': 'GC09P035158', 'score': 550.77}, {'connected_gene': 'FAM214B', 'score': 5.82}, {'connected_gene': 'LOC730110', 'score': 0.44}]