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
ENST00000371494	[[53552854, 53553899], [53554548, 53554651], [53555471, 53555606], [53556283, 53556478], [53558225, 53558459], [53559132, 53559232], [53569017, 53569240], [53571403, 53571446], [53580429, 53580645], [53600021, 53600101], [53607986, 53608249]]	[[53553680, 53553899], [53554548, 53554651], [53555471, 53555606], [53556283, 53556478], [53558225, 53558459], [53559132, 53559232], [53569017, 53569240], [53571403, 53571446], [53580429, 53580645], [53600021, 53600101], [53607986, 53608121]]
ENST00000488036	[[53552855, 53553899], [53554548, 53554651], [53555471, 53556654]]	None
ENST00000371491	[[53573599, 53574306], [53580429, 53580645], [53600021, 53600101], [53607986, 53608289]]	[[53574260, 53574306], [53580429, 53580645], [53600021, 53600101], [53607986, 53608121]]
NM_001287595	[[53552850, 53553899], [53554548, 53554651], [53555471, 53555606], [53556283, 53556655], [53558225, 53558459], [53559132, 53559232], [53569017, 53569240], [53571403, 53571446], [53580429, 53580645], [53600021, 53600101], [53607986, 53608304]]	[[53553680, 53553899], [53554548, 53554651], [53555471, 53555606], [53556283, 53556655], [53558225, 53558459], [53559132, 53559232], [53569017, 53569240], [53571403, 53571446], [53580429, 53580645], [53600021, 53600101], [53607986, 53608121]]
NM_006671	[[53552850, 53553899], [53554548, 53554651], [53555471, 53555606], [53556283, 53556478], [53558225, 53558459], [53559132, 53559232], [53569017, 53569240], [53571403, 53571446], [53580429, 53580645], [53600021, 53600101], [53607986, 53608304]]	[[53553680, 53553899], [53554548, 53554651], [53555471, 53555606], [53556283, 53556478], [53558225, 53558459], [53559132, 53559232], [53569017, 53569240], [53571403, 53571446], [53580429, 53580645], [53600021, 53600101], [53607986, 53608121]]
NR_109858	[[53552850, 53553899], [53554548, 53554651], [53555471, 53555606], [53556283, 53556450], [53558225, 53558459], [53559132, 53559232], [53569017, 53569240], [53571403, 53571446], [53580429, 53580645], [53600021, 53600101], [53607986, 53608304]]	None
NM_001287597	[[53552850, 53553918], [53554548, 53554651], [53555471, 53555606], [53556283, 53556478], [53558225, 53558459], [53559132, 53559232], [53569017, 53569240], [53571403, 53571446], [53600021, 53600101], [53607986, 53608304]]	[[53553747, 53553918], [53554548, 53554651], [53555471, 53555606], [53556283, 53556478], [53558225, 53558459], [53559132, 53559232], [53569017, 53569240], [53571403, 53571446], [53600021, 53600101], [53607986, 53608121]]
NM_001287596	[[53573599, 53574306], [53580429, 53580645], [53600021, 53600101], [53607986, 53608304]]	[[53574260, 53574306], [53580429, 53580645], [53600021, 53600101], [53607986, 53608121]]

Promoter

Chrom	Start	End	Description
chr1	53556589	53556599	CAGE_peak_6_at_SLC1A7_5end
chr1	53556610	53556625	CAGE_peak_4_at_SLC1A7_5end
chr1	53556639	53556664	CAGE_peak_2_at_SLC1A7_5end
chr1	53608270	53608288	CAGE_peak_3_at_SLC1A7_5end
chr1	53608289	53608315	CAGE_peak_1_at_SLC1A7_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I053046	53046789	53048747	1.07	[{'connected_gene': 'SLC1A7', 'score': 7.45}, {'connected_gene': 'ECHDC2', 'score': 6.84}, {'connected_gene': 'NDC1', 'score': 5.21}, {'connected_gene': 'SCP2', 'score': 4.94}, {'connected_gene': 'HSPB11', 'score': 4.21}, {'connected_gene': 'GC01P053051', 'score': 0.77}, {'connected_gene': 'GC01P053008', 'score': 0.28}]
chr1	GH01I053139	53139351	53141250	1.11	[{'connected_gene': 'SLC1A7', 'score': 15.79}, {'connected_gene': 'PODN', 'score': 11.77}, {'connected_gene': 'ZYG11A', 'score': 5.22}, {'connected_gene': 'GC01P053132', 'score': 0.44}]
chr1	GH01I053144	53144962	53148824	1.32	[{'connected_gene': 'SLC1A7', 'score': 13.41}, {'connected_gene': 'PODN', 'score': 9.37}, {'connected_gene': 'GPX7', 'score': 5.2}, {'connected_gene': 'PLA2G12AP1', 'score': 3.99}, {'connected_gene': 'LOC105378724', 'score': 0.29}]
chr1	GH01I053165	53165166	53166517	0.65	[{'connected_gene': 'SLC1A7', 'score': 11.21}, {'connected_gene': 'PODN', 'score': 9.29}, {'connected_gene': 'CPT2', 'score': 4.23}, {'connected_gene': 'LOC105378724', 'score': 0.39}]
chr1	GH01I053160	53160809	53161477	0.91	[{'connected_gene': 'SLC1A7', 'score': 11.69}, {'connected_gene': 'LOC105378724', 'score': 0.37}]
chr1	GH01I053159	53159075	53160052	0.64	[{'connected_gene': 'SLC1A7', 'score': 12.5}, {'connected_gene': 'LOC105378724', 'score': 0.34}]
chr1	GH01I053024	53024519	53026836	1.1	[{'connected_gene': 'SLC1A7', 'score': 7.42}, {'connected_gene': 'SCP2', 'score': 6.22}, {'connected_gene': 'GC01P053008', 'score': 0.37}, {'connected_gene': 'GC01P053051', 'score': 0.31}]
chr1	GH01I053121	53120249	53120398	0.66	[{'connected_gene': 'SLC1A7', 'score': 5.81}, {'connected_gene': 'GC01M053112', 'score': 0.77}, {'connected_gene': 'PIR53839', 'score': 0.44}]
chr1	GH01I053089	53089229	53090498	1.26	[{'connected_gene': 'SLC1A7', 'score': 10.19}, {'connected_gene': 'ENSG00000235563', 'score': 9.29}, {'connected_gene': 'ENSG00000232993', 'score': 0.77}]
chr1	GH01I053142	53142594	53142653	0.5	[{'connected_gene': 'SLC1A7', 'score': 550.77}, {'connected_gene': 'GC01P053132', 'score': 0.39}]
chr1	GH01I052867	52867044	52868112	0.66	[{'connected_gene': 'ECHDC2', 'score': 11.32}, {'connected_gene': 'ZYG11B', 'score': 10.01}, {'connected_gene': 'SLC1A7', 'score': 5.86}, {'connected_gene': 'PIR36649', 'score': 0.39}, {'connected_gene': 'ENSG00000242391', 'score': 0.39}, {'connected_gene': 'ZYG11A', 'score': 0.31}]
chr1	GH01I052917	52917271	52917672	0.2	[{'connected_gene': 'ECHDC2', 'score': 6.26}, {'connected_gene': 'SLC1A7', 'score': 5.62}, {'connected_gene': 'ENSG00000230953', 'score': 0.77}, {'connected_gene': 'PIR50883', 'score': 0.37}]
chr1	GH01I052926	52926607	52928429	1.89	[{'connected_gene': 'ECHDC2', 'score': 567.89}, {'connected_gene': 'SCP2', 'score': 550.77}, {'connected_gene': 'MIR1273F', 'score': 550.77}, {'connected_gene': 'COA7', 'score': 7.45}, {'connected_gene': 'SLC1A7', 'score': 5.62}]
chr1	GH01I053175	53175837	53177703	0.84	[{'connected_gene': 'C1orf123', 'score': 11.54}, {'connected_gene': 'ENSG00000236723', 'score': 10.66}, {'connected_gene': 'MAGOH', 'score': 10.5}, {'connected_gene': 'LOC100507564', 'score': 10.5}, {'connected_gene': 'ENSG00000235563', 'score': 4.54}, {'connected_gene': 'LOC105378724', 'score': 0.77}, {'connected_gene': 'SLC1A7', 'score': 0.29}]
chr1	GH01I053172	53172569	53173288	1.07	[{'connected_gene': 'C1orf123', 'score': 9.56}, {'connected_gene': 'LOC105378724', 'score': 0.44}, {'connected_gene': 'SLC1A7', 'score': 0.29}]
chr1	GH01I053132	53132129	53136578	1.16	[{'connected_gene': 'MAGOH', 'score': 28.93}, {'connected_gene': 'NDC1', 'score': 22.67}, {'connected_gene': 'ENSG00000230953', 'score': 20.77}, {'connected_gene': 'PODN', 'score': 19.44}, {'connected_gene': 'SLC1A7', 'score': 15.93}, {'connected_gene': 'LRRC42', 'score': 11.01}, {'connected_gene': 'ZCCHC11', 'score': 10.3}, {'connected_gene': 'RPS13P2', 'score': 10.3}, {'connected_gene': 'ECHDC2', 'score': 9.97}, {'connected_gene': 'PLA2G12AP1', 'score': 4.1}, {'connected_gene': 'GC01P053132', 'score': 0.77}]
chr1	GH01I052904	52904826	52906386	0.75	[{'connected_gene': 'MAGOH', 'score': 14.91}, {'connected_gene': 'SCP2', 'score': 12.34}, {'connected_gene': 'ECHDC2', 'score': 12.34}, {'connected_gene': 'ZCCHC11', 'score': 11.2}, {'connected_gene': 'ENSG00000230953', 'score': 10.68}, {'connected_gene': 'RPS13P2', 'score': 10.18}, {'connected_gene': 'GPX7', 'score': 9.86}, {'connected_gene': 'SLC1A7', 'score': 5.61}, {'connected_gene': 'PIR50883', 'score': 0.44}]
chr1	GH01I053154	53154052	53157489	0.59	[{'connected_gene': 'CPT2', 'score': 10.37}, {'connected_gene': 'SLC1A7', 'score': 5.45}, {'connected_gene': 'PODN', 'score': 5.02}, {'connected_gene': 'LOC105378724', 'score': 0.34}]
chr1	GH01I053062	53062000	53063023	1.38	[{'connected_gene': 'PODN', 'score': 550.77}, {'connected_gene': 'SLC1A7', 'score': 7.02}, {'connected_gene': 'ENSG00000235563', 'score': 5.07}, {'connected_gene': 'TCEANC2', 'score': 4.92}, {'connected_gene': 'SCP2', 'score': 4.8}, {'connected_gene': 'GC01P053051', 'score': 0.39}, {'connected_gene': 'HIGD1AP11', 'score': 0.39}]
chr1	GH01I053122	53120840	53125163	1.55	[{'connected_gene': 'PODN', 'score': 13.98}, {'connected_gene': 'SLC1A7', 'score': 12.03}, {'connected_gene': 'ENSG00000230953', 'score': 4.76}, {'connected_gene': 'LOC100190934', 'score': 4.75}, {'connected_gene': 'PIR53839', 'score': 0.77}, {'connected_gene': 'GC01M053112', 'score': 0.44}]
chr1	GH01I053106	53106829	53113646	1.37	[{'connected_gene': 'PODN', 'score': 11.26}, {'connected_gene': 'NDC1', 'score': 10.42}, {'connected_gene': 'ENSG00000235563', 'score': 9.51}, {'connected_gene': 'SLC1A7', 'score': 6.33}, {'connected_gene': 'GC01M053112', 'score': 0.44}, {'connected_gene': 'ENSG00000232993', 'score': 0.34}]
chr1	GH01I053315	53315755	53317941	0.92	[{'connected_gene': 'TCEANC2', 'score': 8.82}, {'connected_gene': 'SLC1A7', 'score': 4.89}, {'connected_gene': 'GC01M053305', 'score': 0.44}, {'connected_gene': 'LRP8', 'score': 0.39}]
chr1	GH01I053179	53179498	53180880	0.43	[{'connected_gene': 'LOC105378724', 'score': 550.77}, {'connected_gene': 'ENSG00000277397', 'score': 550.77}, {'connected_gene': 'ENSG00000236723', 'score': 10.67}, {'connected_gene': 'MAGOH', 'score': 10.51}, {'connected_gene': 'LOC100507564', 'score': 10.51}, {'connected_gene': 'C1orf123', 'score': 8.95}, {'connected_gene': 'SLC1A7', 'score': 0.28}]
chr1	GH01I053126	53126956	53128422	0.38	[{'connected_gene': 'GC01M053129', 'score': 550.77}, {'connected_gene': 'PIR62066', 'score': 550.77}, {'connected_gene': 'PIR50446', 'score': 550.77}, {'connected_gene': 'PIR53839', 'score': 550.77}, {'connected_gene': 'GC01M053130', 'score': 550.77}, {'connected_gene': 'SLC1A7', 'score': 12.67}, {'connected_gene': 'NDC1', 'score': 10.42}, {'connected_gene': 'HNRNPA3P12', 'score': 4.75}]
chr1	GH01I053125	53125378	53126719	0.89	[{'connected_gene': 'PIR62066', 'score': 550.77}, {'connected_gene': 'PIR53839', 'score': 550.77}, {'connected_gene': 'GC01M053130', 'score': 550.77}, {'connected_gene': 'SLC1A7', 'score': 11.53}, {'connected_gene': 'PODN', 'score': 11.33}, {'connected_gene': 'ENSG00000230953', 'score': 4.31}, {'connected_gene': 'ZCCHC11', 'score': 4.2}]
chr1	GH01I053115	53115589	53117024	1.01	[{'connected_gene': 'ENSG00000235563', 'score': 550.77}, {'connected_gene': 'GC01M053112', 'score': 550.77}, {'connected_gene': 'SLC1A7', 'score': 8.65}, {'connected_gene': 'PODN', 'score': 5.66}]
chr1	GH01I053081	53081815	53084603	0.57	[{'connected_gene': 'ENSG00000235563', 'score': 11.2}, {'connected_gene': 'SLC1A7', 'score': 8.57}, {'connected_gene': 'TCEANC2', 'score': 5.46}, {'connected_gene': 'ENSG00000232993', 'score': 0.77}, {'connected_gene': 'HIGD1AP11', 'score': 0.44}, {'connected_gene': 'PODN', 'score': 0.34}]
chr1	GH01I053094	53094229	53094373	0.46	[{'connected_gene': 'ENSG00000232993', 'score': 0.44}, {'connected_gene': 'ENSG00000235563', 'score': 0.34}, {'connected_gene': 'SLC1A7', 'score': 0.25}]
chr1	GH01I053120	53120412	53120612	0.58	[{'connected_gene': 'GC01M053112', 'score': 0.77}, {'connected_gene': 'PIR53839', 'score': 0.44}, {'connected_gene': 'SLC1A7', 'score': 0.34}]
chr1	GH01I053129	53129780	53131468	0.68	[{'connected_gene': 'GC01M053129', 'score': 550.77}, {'connected_gene': 'GC01P053132', 'score': 550.77}, {'connected_gene': 'PIR50446', 'score': 550.77}, {'connected_gene': 'SLC1A7', 'score': 12.73}]
chr1	GH01I053105	53105767	53106085	0.51	[{'connected_gene': 'ENSG00000235563', 'score': 15.89}, {'connected_gene': 'ENSG00000232993', 'score': 0.34}, {'connected_gene': 'SLC1A7', 'score': 0.28}]
chr1	GH01I053176	53175609	53175758	0.54	[{'connected_gene': 'ENSG00000236723', 'score': 10.66}, {'connected_gene': 'MAGOH', 'score': 10.5}, {'connected_gene': 'LOC100507564', 'score': 10.5}, {'connected_gene': 'C1orf123', 'score': 8.84}, {'connected_gene': 'LOC105378724', 'score': 0.77}, {'connected_gene': 'SLC1A7', 'score': 0.29}]
chr1	GH01I053104	53104109	53105008	0.51	[{'connected_gene': 'ENSG00000235563', 'score': 18.29}, {'connected_gene': 'PODN', 'score': 12.32}, {'connected_gene': 'TCEANC2', 'score': 5.87}, {'connected_gene': 'SLC1A7', 'score': 5.34}, {'connected_gene': 'ENSG00000232993', 'score': 0.37}]