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
ENST00000372555	[[44451852, 44452018], [44452629, 44452766], [44452930, 44453045], [44453133, 44453277], [44453421, 44453473], [44455884, 44455980]]	[[44451986, 44452018], [44452629, 44452766], [44452930, 44453045], [44453133, 44453277], [44453421, 44453473], [44455884, 44455887]]
ENST00000372557	[[44451852, 44452018], [44452629, 44452766], [44452930, 44453045], [44453133, 44453277], [44453421, 44453473], [44461889, 44461967], [44462296, 44462384]]	[[44451986, 44452018], [44452629, 44452766], [44452930, 44453045], [44453133, 44453277], [44453421, 44453431]]
NM_003279	[[44451852, 44452018], [44452629, 44452766], [44452930, 44453045], [44453133, 44453277], [44453421, 44453473], [44455884, 44455953]]	[[44451986, 44452018], [44452629, 44452766], [44452930, 44453045], [44453133, 44453277], [44453421, 44453473], [44455884, 44455887]]

Promoter

Chrom	Start	End	Description
chr20	44453450	44453475	CAGE_peak_4_at_TNNC2_5end
chr20	44455938	44455959	CAGE_peak_1_at_TNNC2_5end
chr20	44455963	44455970	CAGE_peak_3_at_TNNC2_5end
chr20	44455976	44455986	CAGE_peak_2_at_TNNC2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr20	GH20I045832	45832371	45836711	2.22	[{'connected_gene': 'SNX21', 'score': 555.88}, {'connected_gene': 'TNNC2', 'score': 550.77}, {'connected_gene': 'WFDC3', 'score': 21.53}, {'connected_gene': 'CD40', 'score': 14.76}, {'connected_gene': 'PCIF1', 'score': 11.99}, {'connected_gene': 'NCOA5', 'score': 10.41}, {'connected_gene': 'SYS1', 'score': 9.8}, {'connected_gene': 'PI3', 'score': 5.1}, {'connected_gene': 'PIR61038', 'score': 0.44}]
chr20	GH20I045836	45836801	45837000	0.94	[{'connected_gene': 'SNX21', 'score': 0.77}, {'connected_gene': 'TNNC2', 'score': 0.77}, {'connected_gene': 'PIR61038', 'score': 0.77}]
chr20	GH20I045825	45825675	45829574	1.6	[{'connected_gene': 'TNNC2', 'score': 550.44}, {'connected_gene': 'WFDC3', 'score': 34.2}, {'connected_gene': 'SNX21', 'score': 5.71}, {'connected_gene': 'CD40', 'score': 5.25}, {'connected_gene': 'ENSG00000237464', 'score': 4.29}, {'connected_gene': 'UBE2C', 'score': 0.37}]
chr20	GH20I045933	45933164	45939495	2.34	[{'connected_gene': 'PCIF1', 'score': 562.62}, {'connected_gene': 'SNX21', 'score': 27.86}, {'connected_gene': 'NCOA5', 'score': 27.62}, {'connected_gene': 'TP53RK', 'score': 27.46}, {'connected_gene': 'SPATA25', 'score': 25.61}, {'connected_gene': 'ZNF335', 'score': 23.89}, {'connected_gene': 'PLTP', 'score': 23.26}, {'connected_gene': 'SLC35C2', 'score': 22.54}, {'connected_gene': 'WFDC3', 'score': 17.33}, {'connected_gene': 'ENSG00000271984', 'score': 13.62}, {'connected_gene': 'ACOT8', 'score': 11.88}, {'connected_gene': 'ZSWIM3', 'score': 11.88}, {'connected_gene': 'CTSA', 'score': 11.58}, {'connected_gene': 'NEURL2', 'score': 11.58}, {'connected_gene': 'ZSWIM1', 'score': 11.35}, {'connected_gene': 'TNNC2', 'score': 11.28}, {'connected_gene': 'UBE2C', 'score': 11.11}, {'connected_gene': 'DNTTIP1', 'score': 10.41}, {'connected_gene': 'CD40', 'score': 10.38}, {'connected_gene': 'SLC12A5', 'score': 10.06}, {'connected_gene': 'SLC12A5-AS1', 'score': 10.06}, {'connected_gene': 'TOMM34', 'score': 4.54}]
chr20	GH20I045909	45909090	45912823	2.22	[{'connected_gene': 'PLTP', 'score': 565.1}, {'connected_gene': 'SLC12A5-AS1', 'score': 14.75}, {'connected_gene': 'ACOT8', 'score': 11.39}, {'connected_gene': 'ZSWIM3', 'score': 11.39}, {'connected_gene': 'SNX21', 'score': 10.78}, {'connected_gene': 'TNNC2', 'score': 10.78}, {'connected_gene': 'UBE2C', 'score': 10.42}, {'connected_gene': 'DNTTIP1', 'score': 9.58}, {'connected_gene': 'WFDC3', 'score': 9.58}, {'connected_gene': 'SLC12A5', 'score': 9.53}, {'connected_gene': 'ENSG00000271984', 'score': 5.33}]
chr20	GH20I045829	45829775	45830911	0.81	[{'connected_gene': 'WFDC3', 'score': 34.4}, {'connected_gene': 'SNX21', 'score': 5.64}, {'connected_gene': 'PI3', 'score': 4.53}, {'connected_gene': 'TNNC2', 'score': 0.77}, {'connected_gene': 'UBE2C', 'score': 0.37}]
chr20	GH20I045822	45822801	45825423	1.2	[{'connected_gene': 'WFDC3', 'score': 45.37}, {'connected_gene': 'PLTP', 'score': 15.49}, {'connected_gene': 'NCOA5', 'score': 14.75}, {'connected_gene': 'ACOT8', 'score': 11.15}, {'connected_gene': 'ZSWIM3', 'score': 11.15}, {'connected_gene': 'ZSWIM1', 'score': 10.84}, {'connected_gene': 'DNTTIP1', 'score': 10.64}, {'connected_gene': 'ZNF334', 'score': 10.5}, {'connected_gene': 'SPATA25', 'score': 10.49}, {'connected_gene': 'NEURL2', 'score': 10.49}, {'connected_gene': 'CTSA', 'score': 10.49}, {'connected_gene': 'SNX21', 'score': 0.44}, {'connected_gene': 'TNNC2', 'score': 0.44}, {'connected_gene': 'UBE2C', 'score': 0.39}]
chr20	GH20I045924	45924059	45926211	1.17	[{'connected_gene': 'WFDC3', 'score': 15.22}, {'connected_gene': 'PLTP', 'score': 12.36}, {'connected_gene': 'NEURL2', 'score': 11.63}, {'connected_gene': 'CTSA', 'score': 11.63}, {'connected_gene': 'SPATA25', 'score': 11.61}, {'connected_gene': 'SNX21', 'score': 11.19}, {'connected_gene': 'TNNC2', 'score': 11.19}, {'connected_gene': 'ACOT8', 'score': 11.12}, {'connected_gene': 'ZSWIM3', 'score': 11.12}, {'connected_gene': 'UBE2C', 'score': 10.98}, {'connected_gene': 'DNTTIP1', 'score': 10.54}, {'connected_gene': 'SLC12A5', 'score': 9.66}, {'connected_gene': 'SLC12A5-AS1', 'score': 9.66}, {'connected_gene': 'PCIF1', 'score': 0.44}]
chr20	GH20I045917	45917214	45921240	1.27	[{'connected_gene': 'WFDC3', 'score': 15.61}, {'connected_gene': 'NEURL2', 'score': 11.61}, {'connected_gene': 'CTSA', 'score': 11.61}, {'connected_gene': 'SPATA25', 'score': 11.59}, {'connected_gene': 'PLTP', 'score': 11.39}, {'connected_gene': 'ACOT8', 'score': 11.12}, {'connected_gene': 'ZSWIM3', 'score': 11.12}, {'connected_gene': 'SNX21', 'score': 11.04}, {'connected_gene': 'TNNC2', 'score': 11.04}, {'connected_gene': 'UBE2C', 'score': 10.9}, {'connected_gene': 'DNTTIP1', 'score': 10.55}, {'connected_gene': 'SLC12A5', 'score': 9.78}, {'connected_gene': 'SLC12A5-AS1', 'score': 9.78}, {'connected_gene': 'PCIF1', 'score': 0.37}]
chr20	GH20I045963	45963082	45963231	0.68	[{'connected_gene': 'SPATA25', 'score': 11.09}, {'connected_gene': 'ZSWIM1', 'score': 10.92}, {'connected_gene': 'UBE2C', 'score': 10.89}, {'connected_gene': 'CTSA', 'score': 10.89}, {'connected_gene': 'NEURL2', 'score': 10.89}, {'connected_gene': 'TNNC2', 'score': 10.72}, {'connected_gene': 'SNX21', 'score': 10.72}, {'connected_gene': 'PLTP', 'score': 10.67}, {'connected_gene': 'DNTTIP1', 'score': 10.52}, {'connected_gene': 'WFDC3', 'score': 10.52}, {'connected_gene': 'SLC12A5', 'score': 10.41}, {'connected_gene': 'SLC12A5-AS1', 'score': 10.41}, {'connected_gene': 'NCOA5', 'score': 10.07}, {'connected_gene': 'RNU6ATAC38P', 'score': 8.81}, {'connected_gene': 'ZNF335', 'score': 0.44}, {'connected_gene': 'PCIF1', 'score': 0.31}]
chr20	GH20I045904	45904523	45906575	0.81	[{'connected_gene': 'ACOT8', 'score': 11.41}, {'connected_gene': 'ZSWIM3', 'score': 11.41}, {'connected_gene': 'SNX21', 'score': 10.79}, {'connected_gene': 'TNNC2', 'score': 10.79}, {'connected_gene': 'UBE2C', 'score': 10.43}, {'connected_gene': 'PLTP', 'score': 10.37}, {'connected_gene': 'DNTTIP1', 'score': 9.59}, {'connected_gene': 'WFDC3', 'score': 9.59}, {'connected_gene': 'SLC12A5', 'score': 9.52}, {'connected_gene': 'SLC12A5-AS1', 'score': 9.52}, {'connected_gene': 'ENSG00000271984', 'score': 0.39}]
chr20	GH20I045840	45840069	45843470	0.84	[{'connected_gene': 'PIR61038', 'score': 550.77}, {'connected_gene': 'WFDC3', 'score': 25.78}, {'connected_gene': 'SNX21', 'score': 7.76}, {'connected_gene': 'TNNC2', 'score': 0.44}, {'connected_gene': 'ACOT8', 'score': 0.37}]
chr20	GH20I045773	45773773	45776369	0.31	[{'connected_gene': 'GC20P045773', 'score': 550.77}, {'connected_gene': 'WFDC3', 'score': 70.67}, {'connected_gene': 'UBE2C', 'score': 10.41}, {'connected_gene': 'SNX21', 'score': 10.38}, {'connected_gene': 'TNNC2', 'score': 10.38}, {'connected_gene': 'EPPIN', 'score': 10.32}, {'connected_gene': 'EPPIN-WFDC6', 'score': 10.32}, {'connected_gene': 'HSPD1P21', 'score': 10.32}, {'connected_gene': 'WFDC6', 'score': 10.32}, {'connected_gene': 'ENSG00000232135', 'score': 10.32}, {'connected_gene': 'GC20P045779', 'score': 0.77}]