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
ENST00000398965	[[128886460, 128886761], [128904093, 128904202], [128905493, 128905578], [128910875, 128910976], [128930074, 128930153], [128930261, 128930346], [128932827, 128932855], [128938517, 128938656], [128941234, 128941324], [128949629, 128950008], [128951664, 128952445]]	[[128904110, 128904202], [128905493, 128905578], [128910875, 128910976], [128930074, 128930153], [128930261, 128930346], [128932827, 128932855], [128938517, 128938656], [128941234, 128941324], [128949629, 128950008], [128951664, 128951831]]
ENST00000473040	[[128886469, 128886761], [128904093, 128904202], [128905493, 128905578], [128930074, 128930153], [128930261, 128930356], [128930714, 128930790], [128938512, 128938656], [128941234, 128941324], [128942291, 128942393], [128949629, 128950008], [128951664, 128951827], [128956916, 128957441]]	[[128904110, 128904202], [128905493, 128905578], [128930074, 128930095]]
ENST00000444616	[[128886531, 128886761], [128904093, 128904202], [128905493, 128905578], [128910875, 128910976], [128930074, 128930153], [128930261, 128930348], [128932829, 128932855], [128938517, 128938656], [128941234, 128941324], [128949629, 128950008], [128951664, 128952468]]	[[128904110, 128904202], [128905493, 128905578], [128910875, 128910976], [128930074, 128930153], [128930261, 128930348], [128932829, 128932855], [128938517, 128938656], [128941234, 128941324], [128949629, 128950008], [128951664, 128951831]]
ENST00000388795	[[128886565, 128886761], [128904093, 128904202], [128905493, 128905578], [128922870, 128922915], [128930074, 128930153], [128930261, 128930348], [128932829, 128932855], [128938517, 128938656], [128941234, 128941324], [128942291, 128942393], [128949629, 128950008], [128951664, 128951827], [128956916, 128960866]]	[[128922883, 128922915], [128930074, 128930153], [128930261, 128930348], [128932829, 128932855], [128938517, 128938656], [128941234, 128941324], [128942291, 128942393], [128949629, 128950008], [128951664, 128951827], [128956916, 128956968]]
ENST00000513371	[[128886628, 128886761], [128887108, 128887211], [128904093, 128904202], [128905493, 128905578], [128910875, 128910976], [128930074, 128930112]]	[[128904110, 128904202], [128905493, 128905578], [128910875, 128910976], [128930074, 128930112]]
NM_001319306	[[128886410, 128886761], [128904093, 128904202], [128905493, 128905578], [128930074, 128930153], [128930261, 128930346], [128932827, 128932855], [128938517, 128938656], [128941234, 128941324], [128942291, 128942393], [128949629, 128950008], [128951664, 128951827], [128956916, 128960866]]	[[128930285, 128930346], [128932827, 128932855], [128938517, 128938656], [128941234, 128941324], [128942291, 128942393], [128949629, 128950008], [128951664, 128951827], [128956916, 128956968]]
NM_001319307	[[128886410, 128886761], [128904093, 128904202], [128905493, 128905578], [128930074, 128930153], [128930261, 128930346], [128930703, 128930776], [128932837, 128932855], [128938517, 128938656], [128941234, 128941324], [128942291, 128942393], [128949629, 128950008], [128951664, 128951827], [128956916, 128960866]]	[[128938554, 128938656], [128941234, 128941324], [128942291, 128942393], [128949629, 128950008], [128951664, 128951827], [128956916, 128956968]]
NM_001319305	[[128886410, 128886761], [128904093, 128904202], [128905493, 128905578], [128922870, 128922915], [128930074, 128930153], [128930261, 128930346], [128932827, 128932855], [128938517, 128938656], [128941234, 128941324], [128942291, 128942393], [128949629, 128950008], [128951664, 128951827], [128956916, 128960866]]	[[128922883, 128922915], [128930074, 128930153], [128930261, 128930346], [128932827, 128932855], [128938517, 128938656], [128941234, 128941324], [128942291, 128942393], [128949629, 128950008], [128951664, 128951827], [128956916, 128956968]]

Promoter

Chrom	Start	End	Description
chr4	128886402	128886414	CAGE_peak_6_at_C4orf29_5end
chr4	128886424	128886467	CAGE_peak_3_at_C4orf29_5end
chr4	128886476	128886509	CAGE_peak_4_at_C4orf29_5end
chr4	128886549	128886576	CAGE_peak_2_at_C4orf29_5end
chr4	128886584	128886654	CAGE_peak_1_at_C4orf29_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr4	GH04I128220	128220079	128221771	0.8	[{'connected_gene': 'ABHD18', 'score': 4.49}, {'connected_gene': 'INTU', 'score': 3.89}, {'connected_gene': 'FOSL1P1', 'score': 0.2}, {'connected_gene': 'PGRMC2', 'score': 0.2}, {'connected_gene': 'LARP1B', 'score': 0.1}]
chr4	GH04I128054	128054483	128055995	0.56	[{'connected_gene': 'ABHD18', 'score': 4.37}, {'connected_gene': 'GC04M128059', 'score': 0.44}, {'connected_gene': 'MFSD8', 'score': 0.17}]
chr4	GH04I127831	127831499	127831867	0.27	[{'connected_gene': 'ABHD18', 'score': 7.6}, {'connected_gene': 'HSPA4L', 'score': 1.57}, {'connected_gene': 'GC04P127838', 'score': 0.44}, {'connected_gene': 'RPL21P53', 'score': 0.37}]
chr4	GH04I128297	128297219	128299452	0.72	[{'connected_gene': 'ABHD18', 'score': 6.21}, {'connected_gene': 'LOC100507487', 'score': 0.44}, {'connected_gene': 'GC04P128333', 'score': 0.28}]
chr4	GH04I128294	128294537	128295718	0.2	[{'connected_gene': 'ABHD18', 'score': 6.72}, {'connected_gene': 'LOC100507487', 'score': 0.77}, {'connected_gene': 'GC04P128333', 'score': 0.28}]
chr4	GH04I128059	128059904	128063201	2.05	[{'connected_gene': 'LARP1B', 'score': 550.77}, {'connected_gene': 'GC04M128059', 'score': 550.77}, {'connected_gene': 'HSPA4L', 'score': 5.81}, {'connected_gene': 'INTU', 'score': 5.57}, {'connected_gene': 'ABHD18', 'score': 4.82}, {'connected_gene': 'RPL15P8', 'score': 0.44}]
chr4	GH04I127963	127963800	127966687	2.07	[{'connected_gene': 'MFSD8', 'score': 550.77}, {'connected_gene': 'ABHD18', 'score': 550.77}, {'connected_gene': 'PGRMC2', 'score': 10.51}, {'connected_gene': 'RNU6-583P', 'score': 0.19}]
chr4	GH04I127997	127997401	127997800	0.87	[{'connected_gene': 'MFSD8', 'score': 0.29}, {'connected_gene': 'ABHD18', 'score': 0.29}, {'connected_gene': 'GC04M128059', 'score': 0.21}]
chr4	GH04I127993	127993001	127993400	0.31	[{'connected_gene': 'MFSD8', 'score': 0.31}, {'connected_gene': 'ABHD18', 'score': 0.31}, {'connected_gene': 'GC04M128059', 'score': 0.2}]
chr4	GH04I128467	128467807	128469266	1.25	[{'connected_gene': 'MFSD8', 'score': 15.27}, {'connected_gene': 'JADE1', 'score': 11.43}, {'connected_gene': 'PGRMC2', 'score': 11.16}, {'connected_gene': 'ABHD18', 'score': 10.65}, {'connected_gene': 'LOC100507487', 'score': 5.03}, {'connected_gene': 'LOC101927259', 'score': 0.17}, {'connected_gene': 'GC04P128333', 'score': 0.12}]
chr4	GH04I127966	127966801	127967906	0.72	[{'connected_gene': 'MFSD8', 'score': 550.77}, {'connected_gene': 'RNU6-583P', 'score': 11.56}, {'connected_gene': 'PLK4', 'score': 11.55}, {'connected_gene': 'ABHD18', 'score': 0.77}, {'connected_gene': 'GC04M128059', 'score': 0.16}]
chr4	GH04I127781	127781090	127785346	2.25	[{'connected_gene': 'HSPA4L', 'score': 559.8}, {'connected_gene': 'SLC25A31', 'score': 10.24}, {'connected_gene': 'INTU', 'score': 10.15}, {'connected_gene': 'ABHD18', 'score': 4.91}, {'connected_gene': 'ENSG00000282855', 'score': 0.31}]
chr4	GH04I127879	127879586	127882134	2.07	[{'connected_gene': 'PLK4', 'score': 550.77}, {'connected_gene': 'HSPA4L', 'score': 8.02}, {'connected_gene': 'ABHD18', 'score': 4.23}, {'connected_gene': 'ENSG00000261668', 'score': 0.28}]
chr4	GH04I127856	127856083	127857806	0.94	[{'connected_gene': 'PLK4', 'score': 11.27}, {'connected_gene': 'RNU6-583P', 'score': 11.21}, {'connected_gene': 'INTU', 'score': 7.46}, {'connected_gene': 'ABHD18', 'score': 3.98}, {'connected_gene': 'ENSG00000261668', 'score': 0.39}]
chr4	GH04I128284	128284446	128290703	2.3	[{'connected_gene': 'PGRMC2', 'score': 559.88}, {'connected_gene': 'ABHD18', 'score': 5.76}, {'connected_gene': 'FOSL1P1', 'score': 0.12}]
chr4	GH04I128240	128240153	128242907	0.95	[{'connected_gene': 'PGRMC2', 'score': 7.87}, {'connected_gene': 'LOC100507487', 'score': 4.53}, {'connected_gene': 'ABHD18', 'score': 4.39}, {'connected_gene': 'FOSL1P1', 'score': 0.17}]
chr4	GH04I128273	128273741	128276593	0.43	[{'connected_gene': 'PGRMC2', 'score': 7.51}, {'connected_gene': 'LOC100507487', 'score': 6.07}, {'connected_gene': 'ABHD18', 'score': 5.2}, {'connected_gene': 'FOSL1P1', 'score': 0.13}]
chr4	GH04I128551	128551957	128554922	1.75	[{'connected_gene': 'LOC101927259', 'score': 556.0}, {'connected_gene': 'MFSD8', 'score': 55.14}, {'connected_gene': 'PGRMC2', 'score': 20.81}, {'connected_gene': 'RPL21P53', 'score': 10.75}, {'connected_gene': 'ABHD18', 'score': 10.66}, {'connected_gene': 'INTU', 'score': 10.04}, {'connected_gene': 'JADE1', 'score': 9.87}, {'connected_gene': 'C4orf33', 'score': 4.97}, {'connected_gene': 'GC04P128333', 'score': 0.07}]