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
ENST00000308488	[[77371040, 77378536], [77383086, 77383275], [77386080, 77386301], [77387836, 77388044], [77389130, 77389198], [77394754, 77394864], [77396149, 77396204], [77402203, 77402283], [77404551, 77404656], [77409531, 77409738], [77411765, 77413540], [77436589, 77436744], [77451775, 77451981], [77458080, 77458173], [77475642, 77475734], [77531573, 77532063]]	[[77377961, 77378536], [77383086, 77383275], [77386080, 77386301], [77387836, 77388044], [77389130, 77389198], [77394754, 77394864], [77396149, 77396204], [77402203, 77402283], [77404551, 77404656], [77409531, 77409738], [77411765, 77413540], [77436589, 77436744], [77451775, 77451981], [77458080, 77458173], [77475642, 77475734], [77531573, 77531760]]
ENST00000360355	[[77377274, 77378536], [77383086, 77383275], [77386080, 77386301], [77387836, 77388044], [77389130, 77389198], [77394754, 77394864], [77396149, 77396204], [77402203, 77402283], [77404551, 77404656], [77409531, 77409738], [77411765, 77413540], [77436589, 77436744], [77451775, 77451981], [77475642, 77475734], [77531573, 77531880]]	[[77377961, 77378536], [77383086, 77383275], [77386080, 77386301], [77387836, 77388044], [77389130, 77389198], [77394754, 77394864], [77396149, 77396204], [77402203, 77402283], [77404551, 77404656], [77409531, 77409738], [77411765, 77413540], [77436589, 77436744], [77451775, 77451981], [77475642, 77475734], [77531573, 77531760]]
ENST00000528095	[[77412163, 77413540], [77436589, 77436744], [77451775, 77451981], [77458080, 77458173], [77475642, 77475734], [77531573, 77531757]]	[[77412163, 77413540], [77436589, 77436744], [77451775, 77451981], [77458080, 77458173], [77475642, 77475734], [77531573, 77531757]]
ENST00000534794	[[77413445, 77413540], [77451775, 77451981], [77458080, 77458173], [77475642, 77475735]]	None
ENST00000440064	[[77436617, 77436744], [77451775, 77451981], [77475642, 77475734], [77531573, 77531752]]	[[77436617, 77436744], [77451775, 77451981], [77475642, 77475734], [77531573, 77531752]]
ENST00000480887	[[77377274, 77378536], [77383086, 77383275], [77386080, 77386301], [77387836, 77388044], [77389130, 77389198], [77394754, 77394864], [77396149, 77396204], [77402203, 77402283], [77404551, 77404656], [77409531, 77409738], [77411765, 77414578]]	[[77377961, 77378536], [77383086, 77383275], [77386080, 77386301], [77387836, 77388044], [77389130, 77389198], [77394754, 77394864], [77396149, 77396204], [77402203, 77402283], [77404551, 77404656], [77409531, 77409738], [77411765, 77413517]]
ENST00000529470	[[77386123, 77386301], [77387836, 77388106]]	None
ENST00000531026	[[77386139, 77386301], [77387836, 77388044], [77389130, 77389198], [77394754, 77394864], [77396149, 77396204], [77402203, 77402283], [77404551, 77404656], [77409531, 77409573]]	[[77386139, 77386301], [77387836, 77388044], [77389130, 77389198], [77394754, 77394864], [77396149, 77396204], [77402203, 77402283], [77404551, 77404656], [77409531, 77409573]]
ENST00000526324	[[77394813, 77394864], [77396149, 77396204], [77402203, 77402283], [77404551, 77404656], [77409531, 77409738], [77411765, 77413540], [77436589, 77436725]]	[[77394813, 77394864], [77396149, 77396204], [77402203, 77402283], [77404551, 77404656], [77409531, 77409738], [77411765, 77413540], [77436589, 77436725]]
ENST00000531768	[[77402010, 77402283], [77404551, 77404656], [77409531, 77409738], [77411765, 77411806]]	None
ENST00000532556	[[77404637, 77404656], [77409531, 77409738], [77411774, 77412043]]	[[77404637, 77404656], [77409531, 77409738], [77411774, 77412043]]
ENST00000467567	[[77473094, 77475734], [77531573, 77531915]]	None
ENST00000530604	[[77524399, 77524747], [77531573, 77531745]]	None
NM_016578	[[77377273, 77378536], [77383086, 77383275], [77386080, 77386301], [77387836, 77388044], [77389130, 77389198], [77394754, 77394864], [77396149, 77396204], [77402203, 77402283], [77404551, 77404656], [77409531, 77409738], [77411765, 77413540], [77436589, 77436744], [77451775, 77451981], [77458080, 77458173], [77475642, 77475734], [77531573, 77531880]]	[[77377961, 77378536], [77383086, 77383275], [77386080, 77386301], [77387836, 77388044], [77389130, 77389198], [77394754, 77394864], [77396149, 77396204], [77402203, 77402283], [77404551, 77404656], [77409531, 77409738], [77411765, 77413540], [77436589, 77436744], [77451775, 77451981], [77458080, 77458173], [77475642, 77475734], [77531573, 77531760]]

Promoter

Chrom	Start	End	Description
chr11	77531757	77531792	CAGE_peak_1_at_RSF1_5end
chr11	77531858	77531867	CAGE_peak_4_at_RSF1_5end
chr11	77532030	77532040	CAGE_peak_3_at_RSF1_5end
chr11	77532050	77532066	CAGE_peak_2_at_RSF1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr11	GH11I078200	78200732	78203907	1.59	[{'connected_gene': 'INTS4', 'score': 11.56}, {'connected_gene': 'NARS2', 'score': 11.38}, {'connected_gene': 'ENSG00000254649', 'score': 10.55}, {'connected_gene': 'GAB2', 'score': 10.02}, {'connected_gene': 'RSF1', 'score': 2.31}, {'connected_gene': 'PIR47261', 'score': 0.44}, {'connected_gene': 'USP35', 'score': 0.39}, {'connected_gene': 'KCTD21', 'score': 0.39}]
chr11	GH11I077789	77789815	77789964	0.38	[{'connected_gene': 'INTS4', 'score': 10.32}, {'connected_gene': 'GC11P077793', 'score': 0.77}, {'connected_gene': 'RSF1', 'score': 0.29}, {'connected_gene': 'RSF1-IT1', 'score': 0.23}]
chr11	GH11I077752	77752147	77754024	0.31	[{'connected_gene': 'INTS4', 'score': 17.6}, {'connected_gene': 'AAMDC', 'score': 15.6}, {'connected_gene': 'AQP11', 'score': 6.99}, {'connected_gene': 'RSF1-IT1', 'score': 0.39}, {'connected_gene': 'GC11P077793', 'score': 0.26}, {'connected_gene': 'RSF1', 'score': 0.2}]
chr11	GH11I077671	77671588	77673198	0.31	[{'connected_gene': 'INTS4', 'score': 16.19}, {'connected_gene': 'AAMDC', 'score': 13.36}, {'connected_gene': 'GC11P077692', 'score': 0.37}, {'connected_gene': 'CLNS1A', 'score': 0.29}, {'connected_gene': 'RSF1', 'score': 0.11}]
chr11	GH11I078185	78185155	78190596	2.8	[{'connected_gene': 'USP35', 'score': 561.1}, {'connected_gene': 'KCTD21', 'score': 550.77}, {'connected_gene': 'RPL21P95', 'score': 51.46}, {'connected_gene': 'INTS4', 'score': 49.28}, {'connected_gene': 'LOC101928865', 'score': 48.78}, {'connected_gene': 'ENSG00000255449', 'score': 39.62}, {'connected_gene': 'KCTD21-AS1', 'score': 25.72}, {'connected_gene': 'ALG8', 'score': 11.53}, {'connected_gene': 'RSF1', 'score': 2.2}, {'connected_gene': 'PIR40351', 'score': 0.37}]
chr11	GH11I077469	77469068	77476459	2.25	[{'connected_gene': 'PAK1', 'score': 566.46}, {'connected_gene': 'ENSG00000268635', 'score': 550.77}, {'connected_gene': 'RSF1', 'score': 18.54}, {'connected_gene': 'GDPD4', 'score': 15.26}, {'connected_gene': 'RPL21P95', 'score': 12.17}, {'connected_gene': 'ENSG00000254459', 'score': 10.03}, {'connected_gene': 'AQP11', 'score': 10.0}, {'connected_gene': 'MYO7A', 'score': 4.76}, {'connected_gene': 'GC11P077330', 'score': 0.11}]
chr11	GH11I076860	76860048	76862590	2.02	[{'connected_gene': 'ACER3', 'score': 565.23}, {'connected_gene': 'EMSY', 'score': 50.01}, {'connected_gene': 'ENSG00000271757', 'score': 23.29}, {'connected_gene': 'RSF1', 'score': 20.4}, {'connected_gene': 'ENSG00000272301', 'score': 19.95}, {'connected_gene': 'GVQW3', 'score': 19.24}, {'connected_gene': 'ENSG00000255135', 'score': 13.48}, {'connected_gene': 'THAP12', 'score': 10.14}, {'connected_gene': 'ENSG00000254988', 'score': 7.24}]
chr11	GH11I078808	78808887	78812845	0.89	[{'connected_gene': 'RSF1', 'score': 4.3}, {'connected_gene': 'ENSG00000254563', 'score': 0.21}, {'connected_gene': 'ENSG00000255345', 'score': 0.06}, {'connected_gene': 'TENM4', 'score': 0.03}]
chr11	GH11I078715	78715046	78717123	1.05	[{'connected_gene': 'RSF1', 'score': 12.77}, {'connected_gene': 'ENSG00000254563', 'score': 11.47}, {'connected_gene': 'FTH1P16', 'score': 4.39}, {'connected_gene': 'GC11P078655', 'score': 0.21}, {'connected_gene': 'TENM4', 'score': 0.03}]
chr11	GH11I078077	78077847	78082082	2.13	[{'connected_gene': 'NDUFC2', 'score': 558.92}, {'connected_gene': 'LOC105369401', 'score': 550.77}, {'connected_gene': 'NDUFC2-KCTD14', 'score': 550.77}, {'connected_gene': 'KCTD21-AS1', 'score': 30.45}, {'connected_gene': 'INTS4', 'score': 14.14}, {'connected_gene': 'RPL21P95', 'score': 12.69}, {'connected_gene': 'LOC101928865', 'score': 10.57}, {'connected_gene': 'RSF1', 'score': 10.05}, {'connected_gene': 'THRSP', 'score': 0.37}]
chr11	GH11I077788	77788794	77789743	0.31	[{'connected_gene': 'AAMDC', 'score': 14.23}, {'connected_gene': 'INTS4', 'score': 10.32}, {'connected_gene': 'GC11P077793', 'score': 0.77}, {'connected_gene': 'RSF1', 'score': 0.29}, {'connected_gene': 'RSF1-IT1', 'score': 0.25}]
chr11	GH11I077669	77669784	77670910	0.67	[{'connected_gene': 'AAMDC', 'score': 14.47}, {'connected_gene': 'INTS4', 'score': 6.47}, {'connected_gene': 'GC11P077692', 'score': 0.34}, {'connected_gene': 'CLNS1A', 'score': 0.29}, {'connected_gene': 'RSF1', 'score': 0.1}]
chr11	GH11I077818	77818848	77824458	2.29	[{'connected_gene': 'AAMDC', 'score': 566.19}, {'connected_gene': 'RSF1', 'score': 550.77}, {'connected_gene': 'INTS4', 'score': 42.95}, {'connected_gene': 'RPL21P95', 'score': 16.86}, {'connected_gene': 'ENSG00000255449', 'score': 14.25}, {'connected_gene': 'LOC101928865', 'score': 13.52}, {'connected_gene': 'AQP11', 'score': 6.39}, {'connected_gene': 'ENSG00000254691', 'score': 0.31}]
chr11	GH11I077636	77636239	77638593	2.08	[{'connected_gene': 'CLNS1A', 'score': 550.77}, {'connected_gene': 'INTS4', 'score': 55.45}, {'connected_gene': 'RPL21P95', 'score': 40.14}, {'connected_gene': 'LOC101928865', 'score': 36.05}, {'connected_gene': 'ENSG00000255449', 'score': 26.18}, {'connected_gene': 'AAMDC', 'score': 12.31}, {'connected_gene': 'RSF1', 'score': 10.07}, {'connected_gene': 'GC11P077629', 'score': 0.44}, {'connected_gene': 'GC11P077625', 'score': 0.39}]
chr11	GH11I077705	77705118	77706187	0.81	[{'connected_gene': 'LOC101928865', 'score': 12.89}, {'connected_gene': 'INTS4', 'score': 12.47}, {'connected_gene': 'RPL21P95', 'score': 11.31}, {'connected_gene': 'ENSG00000255449', 'score': 10.76}, {'connected_gene': 'ENSG00000261578', 'score': 10.03}, {'connected_gene': 'ENSG00000254459', 'score': 9.22}, {'connected_gene': 'ENSG00000206816', 'score': 0.39}, {'connected_gene': 'RSF1-IT2', 'score': 0.39}, {'connected_gene': 'RSF1', 'score': 0.13}]