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
ENST00000298198	[[74041362, 74047799], [74049512, 74049646], [74053505, 74053695], [74053929, 74054059], [74054367, 74054461], [74056513, 74056694], [74057776, 74057874], [74058192, 74058382], [74062427, 74062621], [74079536, 74079620], [74081946, 74082031], [74082755, 74082862], [74085459, 74085627], [74109095, 74109518]]	[[74047696, 74047799], [74049512, 74049646], [74053505, 74053695], [74053929, 74054059], [74054367, 74054461], [74056513, 74056694], [74057776, 74057874], [74058192, 74058382], [74062427, 74062621], [74079536, 74079620], [74081946, 74082031], [74082755, 74082862], [74085459, 74085627], [74109095, 74109206]]
NM_173582	[[74041356, 74047799], [74049512, 74049646], [74053505, 74053695], [74053929, 74054059], [74054367, 74054461], [74056513, 74056694], [74057776, 74057874], [74058192, 74058382], [74062427, 74062621], [74079536, 74079620], [74081946, 74082031], [74082755, 74082862], [74085459, 74085627], [74109095, 74109510]]	[[74047696, 74047799], [74049512, 74049646], [74053505, 74053695], [74053929, 74054059], [74054367, 74054461], [74056513, 74056694], [74057776, 74057874], [74058192, 74058382], [74062427, 74062621], [74079536, 74079620], [74081946, 74082031], [74082755, 74082862], [74085459, 74085627], [74109095, 74109206]]

Promoter

Chrom	Start	End	Description
chr11	74109422	74109512	CAGE_peak_1_at_PGM2L1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr11	GH11I074397	74397200	74399674	2.05	[{'connected_gene': 'PGM2L1', 'score': 555.97}, {'connected_gene': 'GC11M074397', 'score': 550.77}, {'connected_gene': 'ENSG00000254631', 'score': 550.77}, {'connected_gene': 'MIR548AL', 'score': 550.77}, {'connected_gene': 'C2CD3', 'score': 22.84}, {'connected_gene': 'POLD3', 'score': 11.01}, {'connected_gene': 'ENSG00000255440', 'score': 10.56}, {'connected_gene': 'PPME1', 'score': 7.31}]
chr11	GH11I074370	74370008	74372804	0.72	[{'connected_gene': 'PGM2L1', 'score': 12.33}, {'connected_gene': 'ENSG00000254631', 'score': 12.33}, {'connected_gene': 'KCNE3', 'score': 10.91}, {'connected_gene': 'ENSG00000206913', 'score': 10.67}, {'connected_gene': 'ENSG00000254928', 'score': 10.61}, {'connected_gene': 'P4HA3', 'score': 8.09}, {'connected_gene': 'LOC100421622', 'score': 4.86}, {'connected_gene': 'ARRB1', 'score': 4.78}, {'connected_gene': 'HNRNPA1P40', 'score': 0.37}]
chr11	GH11I074276	74276649	74280784	0.88	[{'connected_gene': 'P4HA3', 'score': 37.44}, {'connected_gene': 'ENSG00000206913', 'score': 11.56}, {'connected_gene': 'P4HA3-AS1', 'score': 11.15}, {'connected_gene': 'KCNE3', 'score': 10.12}, {'connected_gene': 'ENSG00000254928', 'score': 9.88}, {'connected_gene': 'PPME1', 'score': 7.61}, {'connected_gene': 'PGM2L1', 'score': 5.02}, {'connected_gene': 'PIR36741', 'score': 0.34}, {'connected_gene': 'GC11P074254', 'score': 0.34}]
chr11	GH11I074287	74287649	74289422	0.97	[{'connected_gene': 'P4HA3', 'score': 11.57}, {'connected_gene': 'P4HA3-AS1', 'score': 11.57}, {'connected_gene': 'ENSG00000206913', 'score': 11.05}, {'connected_gene': 'KCNE3', 'score': 9.74}, {'connected_gene': 'PGM2L1', 'score': 5.03}, {'connected_gene': 'PIR36741', 'score': 0.29}, {'connected_gene': 'GC11P074254', 'score': 0.29}]
chr11	GH11I074318	74318003	74320204	0.79	[{'connected_gene': 'P4HA3', 'score': 24.16}, {'connected_gene': 'ENSG00000206913', 'score': 11.34}, {'connected_gene': 'KCNE3', 'score': 9.59}, {'connected_gene': 'PPME1', 'score': 9.17}, {'connected_gene': 'PGM2L1', 'score': 4.7}, {'connected_gene': 'P4HA3-AS1', 'score': 0.44}, {'connected_gene': 'LOC105369385', 'score': 0.44}]
chr11	GH11I074330	74330196	74330345	0.46	[{'connected_gene': 'LOC105369385', 'score': 550.77}, {'connected_gene': 'ENSG00000206913', 'score': 10.71}, {'connected_gene': 'KCNE3', 'score': 10.1}, {'connected_gene': 'HNRNPA1P40', 'score': 0.34}, {'connected_gene': 'PGM2L1', 'score': 0.2}]
chr11	GH11I074442	74442387	74444921	0.92	[{'connected_gene': 'KCNE3', 'score': 17.5}, {'connected_gene': 'ENSG00000206913', 'score': 10.87}, {'connected_gene': 'ENSG00000254631', 'score': 10.69}, {'connected_gene': 'PGM2L1', 'score': 10.69}, {'connected_gene': 'UCP3', 'score': 4.54}, {'connected_gene': 'ENSG00000254928', 'score': 0.39}, {'connected_gene': 'ENSG00000255440', 'score': 0.29}]
chr11	GH11I074566	74566256	74567279	0.49	[{'connected_gene': 'KCNE3', 'score': 11.64}, {'connected_gene': 'ENSG00000254928', 'score': 11.63}, {'connected_gene': 'ENSG00000206913', 'score': 10.47}, {'connected_gene': 'PGM2L1', 'score': 10.32}, {'connected_gene': 'ENSG00000254631', 'score': 10.32}, {'connected_gene': 'CHRDL2', 'score': 5.57}, {'connected_gene': 'LOC105369386', 'score': 0.44}, {'connected_gene': 'POLD3', 'score': 0.19}]
chr11	GH11I074366	74366376	74367401	0.2	[{'connected_gene': 'ENSG00000254631', 'score': 11.92}, {'connected_gene': 'PGM2L1', 'score': 11.92}, {'connected_gene': 'ENSG00000206913', 'score': 10.68}, {'connected_gene': 'P4HA3', 'score': 8.03}, {'connected_gene': 'HNRNPA1P40', 'score': 0.39}, {'connected_gene': 'LOC105369385', 'score': 0.28}]
chr11	GH11I074389	74389001	74389200	0.66	[{'connected_gene': 'ENSG00000254631', 'score': 0.44}, {'connected_gene': 'PGM2L1', 'score': 0.44}, {'connected_gene': 'HNRNPA1P40', 'score': 0.29}]
chr11	GH11I074388	74388736	74388925	0.69	[{'connected_gene': 'ENSG00000254631', 'score': 0.44}, {'connected_gene': 'PGM2L1', 'score': 0.44}, {'connected_gene': 'HNRNPA1P40', 'score': 0.29}]
chr11	GH11I074321	74321495	74322645	0.82	[{'connected_gene': 'ENSG00000206913', 'score': 11.34}, {'connected_gene': 'KCNE3', 'score': 10.03}, {'connected_gene': 'PPME1', 'score': 9.96}, {'connected_gene': 'P4HA3', 'score': 8.26}, {'connected_gene': 'PGM2L1', 'score': 4.69}, {'connected_gene': 'LOC105369385', 'score': 0.44}, {'connected_gene': 'P4HA3-AS1', 'score': 0.39}]
chr11	GH11I074339	74339116	74339225	0.38	[{'connected_gene': 'ENSG00000206913', 'score': 10.91}, {'connected_gene': 'KCNE3', 'score': 10.66}, {'connected_gene': 'P4HA3', 'score': 9.39}, {'connected_gene': 'HNRNPA1P40', 'score': 9.17}, {'connected_gene': 'LOC105369385', 'score': 0.39}, {'connected_gene': 'PGM2L1', 'score': 0.22}]