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
ENST00000480945	[[15943994, 15944303], [15953163, 15953293], [15956819, 15957056], [15959933, 15960060], [15964801, 15964929], [15970016, 15970145], [15976214, 15976318], [15978200, 15978390], [15983111, 15983174], [15986331, 15995539]]	[[15944165, 15944303], [15953163, 15953293], [15956819, 15957056], [15959933, 15960060], [15964801, 15964929], [15970016, 15970145], [15976214, 15976318], [15978200, 15978390], [15983111, 15983128]]
ENST00000486680	[[15944037, 15944303], [15953163, 15953293], [15956819, 15957056], [15959933, 15960801]]	None
ENST00000546927	[[15944109, 15944303], [15953163, 15953561]]	None
ENST00000320153	[[15956896, 15957056], [15959933, 15960060], [15960292, 15960374], [15970016, 15970145], [15976214, 15976318], [15978200, 15978390], [15983111, 15983174], [15986331, 15987552]]	[[15956896, 15957056], [15959933, 15960060], [15960292, 15960305]]
ENST00000483899	[[15956919, 15957056], [15959933, 15960060], [15970016, 15970145], [15976214, 15976318]]	[[15956919, 15957056], [15959933, 15960060], [15970016, 15970062]]
ENST00000548451	[[15978330, 15978390], [15982915, 15983480]]	None
NM_032341	[[15943952, 15944303], [15953163, 15953293], [15956819, 15957056], [15959933, 15960060], [15964801, 15964929], [15970016, 15970145], [15976214, 15976318], [15978200, 15978390], [15983111, 15983174], [15986331, 15987552]]	[[15944165, 15944303], [15953163, 15953293], [15956819, 15957056], [15959933, 15960060], [15964801, 15964929], [15970016, 15970145], [15976214, 15976318], [15978200, 15978390], [15983111, 15983128]]

Promoter

Chrom	Start	End	Description
chr1	15943910	15943921	CAGE_peak_3_at_DDI2_5end
chr1	15943922	15943974	CAGE_peak_1_at_DDI2_5end
chr1	15944006	15944014	CAGE_peak_5_at_DDI2_5end
chr1	15944047	15944072	CAGE_peak_2_at_DDI2_5end
chr1	15944075	15944084	CAGE_peak_4_at_DDI2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I015615	15615671	15621054	2.55	[{'connected_gene': 'DDI2', 'score': 553.3}, {'connected_gene': 'CROCCP3', 'score': 24.77}, {'connected_gene': 'NBPF1', 'score': 19.78}, {'connected_gene': 'LINC01772', 'score': 18.92}, {'connected_gene': 'PLEKHM2', 'score': 11.19}, {'connected_gene': 'ZBTB17', 'score': 10.81}, {'connected_gene': 'AGMAT', 'score': 10.7}, {'connected_gene': 'SLC25A34', 'score': 10.26}, {'connected_gene': 'ENSG00000237938', 'score': 9.9}, {'connected_gene': 'EFHD2', 'score': 3.23}, {'connected_gene': 'SPEN', 'score': 2.44}, {'connected_gene': 'CASP9', 'score': 1.28}, {'connected_gene': 'PIR39170', 'score': 0.26}, {'connected_gene': 'GC01P015660', 'score': 0.26}]
chr1	GH01I014976	14976927	14979008	0.57	[{'connected_gene': 'DDI2', 'score': 10.46}, {'connected_gene': 'PIR50978', 'score': 0.34}, {'connected_gene': 'LOC105376758', 'score': 0.1}]
chr1	GH01I015406	15406765	15420523	2.74	[{'connected_gene': 'EFHD2', 'score': 573.46}, {'connected_gene': 'LOC101927441', 'score': 563.93}, {'connected_gene': 'SPEN', 'score': 18.09}, {'connected_gene': 'CTRC', 'score': 12.25}, {'connected_gene': 'LOC101927417', 'score': 11.8}, {'connected_gene': 'FHAD1', 'score': 11.69}, {'connected_gene': 'CASP9', 'score': 6.39}, {'connected_gene': 'PLEKHM2', 'score': 6.1}, {'connected_gene': 'ENSG00000224621', 'score': 5.52}, {'connected_gene': 'DDI2', 'score': 1.65}, {'connected_gene': 'TMEM51', 'score': 1.43}, {'connected_gene': 'GC01P015399', 'score': 0.39}, {'connected_gene': 'GC01M015414', 'score': 0.37}]
chr1	GH01I015624	15624528	15627054	0.67	[{'connected_gene': 'RSC1A1', 'score': 11.82}, {'connected_gene': 'PLEKHM2', 'score': 11.67}, {'connected_gene': 'FBLIM1', 'score': 10.81}, {'connected_gene': 'SCARNA21B', 'score': 10.78}, {'connected_gene': 'SLC25A34', 'score': 10.01}, {'connected_gene': 'AGMAT', 'score': 9.42}, {'connected_gene': 'DDI2', 'score': 0.44}, {'connected_gene': 'PIR39170', 'score': 0.29}, {'connected_gene': 'GC01P015660', 'score': 0.29}]
chr1	GH01I015622	15622200	15622800	0.8	[{'connected_gene': 'SLC25A34', 'score': 11.43}, {'connected_gene': 'ENSG00000237938', 'score': 11.43}, {'connected_gene': 'SCARNA21B', 'score': 11.01}, {'connected_gene': 'RSC1A1', 'score': 10.9}, {'connected_gene': 'DDI2', 'score': 0.44}, {'connected_gene': 'GC01P015660', 'score': 0.28}, {'connected_gene': 'PIR39170', 'score': 0.28}]
chr1	GH01I015627	15627084	15628433	1.08	[{'connected_gene': 'PLEKHM2', 'score': 15.64}, {'connected_gene': 'RSC1A1', 'score': 11.82}, {'connected_gene': 'SCARNA21B', 'score': 10.78}, {'connected_gene': 'FBLIM1', 'score': 10.4}, {'connected_gene': 'DDI2', 'score': 0.39}, {'connected_gene': 'GC01P015660', 'score': 0.29}, {'connected_gene': 'PIR39170', 'score': 0.29}]
chr1	GH01I015631	15631011	15631701	0.64	[{'connected_gene': 'TMEM51-AS1', 'score': 22.33}, {'connected_gene': 'SLC25A34', 'score': 21.27}, {'connected_gene': 'NBPF1', 'score': 20.07}, {'connected_gene': 'SPEN', 'score': 20.04}, {'connected_gene': 'CROCCP3', 'score': 12.51}, {'connected_gene': 'RSC1A1', 'score': 11.53}, {'connected_gene': 'AGMAT', 'score': 11.36}, {'connected_gene': 'PLEKHM2', 'score': 11.24}, {'connected_gene': 'RNU7-179P', 'score': 11.23}, {'connected_gene': 'ENSG00000237938', 'score': 11.05}, {'connected_gene': 'SCARNA21B', 'score': 11.01}, {'connected_gene': 'LINC01772', 'score': 10.96}, {'connected_gene': 'FBLIM1', 'score': 10.73}, {'connected_gene': 'ENSG00000237301', 'score': 10.23}, {'connected_gene': 'TMEM82', 'score': 5.32}, {'connected_gene': 'DDI2', 'score': 0.39}, {'connected_gene': 'PIR39170', 'score': 0.31}, {'connected_gene': 'GC01P015660', 'score': 0.31}]
chr1	GH01I015629	15629773	15630860	0.86	[{'connected_gene': 'TMEM51-AS1', 'score': 22.33}, {'connected_gene': 'SLC25A34', 'score': 21.16}, {'connected_gene': 'NBPF1', 'score': 20.07}, {'connected_gene': 'SPEN', 'score': 20.04}, {'connected_gene': 'CROCCP3', 'score': 12.51}, {'connected_gene': 'RSC1A1', 'score': 11.84}, {'connected_gene': 'PLEKHM2', 'score': 11.24}, {'connected_gene': 'RNU7-179P', 'score': 11.23}, {'connected_gene': 'ENSG00000237938', 'score': 11.19}, {'connected_gene': 'SCARNA21B', 'score': 11.01}, {'connected_gene': 'LINC01772', 'score': 10.96}, {'connected_gene': 'FBLIM1', 'score': 10.73}, {'connected_gene': 'AGMAT', 'score': 10.28}, {'connected_gene': 'ENSG00000237301', 'score': 10.23}, {'connected_gene': 'DDI2', 'score': 0.39}, {'connected_gene': 'PIR39170', 'score': 0.31}, {'connected_gene': 'GC01P015660', 'score': 0.31}]
chr1	GH01I015791	15791870	15803135	1.78	[{'connected_gene': 'CLCNKA', 'score': 25.62}, {'connected_gene': 'HSPB7', 'score': 23.43}, {'connected_gene': 'FBLIM1', 'score': 20.47}, {'connected_gene': 'ENSG00000237938', 'score': 18.41}, {'connected_gene': 'RPS16P1', 'score': 18.13}, {'connected_gene': 'SPEN', 'score': 12.87}, {'connected_gene': 'ZBTB17', 'score': 12.28}, {'connected_gene': 'ENSG00000233078', 'score': 11.58}, {'connected_gene': 'FAM131C', 'score': 10.96}, {'connected_gene': 'ARHGEF19-AS1', 'score': 10.34}, {'connected_gene': 'ARHGEF19', 'score': 10.06}, {'connected_gene': 'FBXO42', 'score': 9.86}, {'connected_gene': 'FLJ37453', 'score': 6.71}, {'connected_gene': 'SRARP', 'score': 6.23}, {'connected_gene': 'CROCCP2', 'score': 4.9}, {'connected_gene': 'SLC25A34', 'score': 4.76}, {'connected_gene': 'ENSG00000236045', 'score': 4.48}, {'connected_gene': 'DDI2', 'score': 4.45}, {'connected_gene': 'EPHA2', 'score': 2.14}, {'connected_gene': 'RPL12P14', 'score': 0.77}, {'connected_gene': 'GC01M015799', 'score': 0.44}]
chr1	GH01I016167	16167135	16169724	1.26	[{'connected_gene': 'ARHGEF19-AS1', 'score': 13.14}, {'connected_gene': 'FAM131C', 'score': 12.36}, {'connected_gene': 'ARHGEF19', 'score': 11.38}, {'connected_gene': 'LOC440568', 'score': 5.89}, {'connected_gene': 'DDI2', 'score': 5.0}, {'connected_gene': 'GC01P016173', 'score': 0.77}, {'connected_gene': 'ENSG00000224621', 'score': 0.44}, {'connected_gene': 'LOC101927479', 'score': 0.39}]
chr1	GH01I015659	15659846	15659905	0.5	[{'connected_gene': 'GC01P015660', 'score': 550.77}, {'connected_gene': 'PIR39170', 'score': 550.77}, {'connected_gene': 'RSC1A1', 'score': 550.77}, {'connected_gene': 'GC01P015666', 'score': 0.44}, {'connected_gene': 'DDI2', 'score': 0.26}]