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
ENST00000491847	[[50643920, 50645573], [50645803, 50649192]]	None
ENST00000443053	[[50643926, 50645573], [50645803, 50646024], [50647803, 50647960], [50649061, 50649203]]	[[50645037, 50645573], [50645803, 50646024], [50647803, 50647874]]
ENST00000348721	[[50643952, 50645573], [50645803, 50646024], [50649061, 50649262]]	[[50645037, 50645573], [50645803, 50646024], [50649061, 50649081]]
NM_013324	[[50643884, 50645573], [50645803, 50646024], [50647803, 50647960], [50649061, 50649262]]	[[50645037, 50645573], [50645803, 50646024], [50647803, 50647874]]
NM_145071	[[50643884, 50645573], [50645803, 50646024], [50649061, 50649262]]	[[50645037, 50645573], [50645803, 50646024], [50649061, 50649081]]

Promoter

Chrom	Start	End	Description
chr3	50648789	50648806	CAGE_peak_4_at_CISH_5end
chr3	50649192	50649212	CAGE_peak_1_at_CISH_5end
chr3	50649395	50649415	CAGE_peak_2_at_CISH_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr3	GH03I050616	50616000	50633999	2.7	[{'connected_gene': 'MAPKAPK3', 'score': 566.78}, {'connected_gene': 'DOCK3', 'score': 23.56}, {'connected_gene': 'HEMK1', 'score': 21.59}, {'connected_gene': 'C3orf18', 'score': 12.32}, {'connected_gene': 'MANF', 'score': 10.68}, {'connected_gene': 'GNAI2', 'score': 6.5}, {'connected_gene': 'LSMEM2', 'score': 5.74}, {'connected_gene': 'HYAL1', 'score': 3.89}, {'connected_gene': 'RASSF1', 'score': 3.77}, {'connected_gene': 'CYB561D2', 'score': 1.38}, {'connected_gene': 'CISH', 'score': 0.39}, {'connected_gene': 'LINC02019', 'score': 0.26}]
chr3	GH03I050577	50577114	50577965	0.77	[{'connected_gene': 'MAPKAPK3', 'score': 12.55}, {'connected_gene': 'CISH', 'score': 12.55}, {'connected_gene': 'HEMK1', 'score': 10.56}, {'connected_gene': 'C3orf18', 'score': 0.77}, {'connected_gene': 'PIR34243', 'score': 0.44}]
chr3	GH03I050652	50652601	50653200	0.83	[{'connected_gene': 'MAPKAPK3', 'score': 11.52}, {'connected_gene': 'CISH', 'score': 11.52}, {'connected_gene': 'C3orf18', 'score': 11.35}, {'connected_gene': 'HEMK1', 'score': 11.35}, {'connected_gene': 'LSMEM2', 'score': 5.74}, {'connected_gene': 'LINC02019', 'score': 0.37}]
chr3	GH03I050637	50636095	50636469	0.38	[{'connected_gene': 'MAPKAPK3', 'score': 0.34}, {'connected_gene': 'CISH', 'score': 0.34}, {'connected_gene': 'LINC02019', 'score': 0.29}]
chr3	GH03I050655	50655250	50655299	0.58	[{'connected_gene': 'MAPKAPK3', 'score': 10.59}, {'connected_gene': 'CISH', 'score': 10.59}, {'connected_gene': 'LINC02019', 'score': 0.39}]
chr3	GH03I050662	50662441	50663234	0.31	[{'connected_gene': 'HYAL1', 'score': 3.89}, {'connected_gene': 'LINC02019', 'score': 0.44}, {'connected_gene': 'CISH', 'score': 0.23}]
chr3	GH03I050648	50648183	50650695	0.54	[{'connected_gene': 'HEMK1', 'score': 20.55}, {'connected_gene': 'MAPKAPK3', 'score': 11.53}, {'connected_gene': 'CISH', 'score': 11.53}, {'connected_gene': 'C3orf18', 'score': 11.35}, {'connected_gene': 'LSMEM2', 'score': 5.74}, {'connected_gene': 'LINC02019', 'score': 0.34}]
chr3	GH03I050636	50636882	50637492	0.2	[{'connected_gene': 'HEMK1', 'score': 9.17}, {'connected_gene': 'MAPKAPK3', 'score': 0.31}, {'connected_gene': 'CISH', 'score': 0.31}, {'connected_gene': 'LINC02019', 'score': 0.29}]
chr3	GH03I050566	50566925	50576881	2.8	[{'connected_gene': 'HEMK1', 'score': 562.7}, {'connected_gene': 'C3orf18', 'score': 553.38}, {'connected_gene': 'CISH', 'score': 38.49}, {'connected_gene': 'RBM5', 'score': 31.53}, {'connected_gene': 'RBM6', 'score': 27.82}, {'connected_gene': 'RAD54L2', 'score': 25.2}, {'connected_gene': 'SEMA3F-AS1', 'score': 23.06}, {'connected_gene': 'MAPKAPK3', 'score': 14.17}, {'connected_gene': 'DOCK3', 'score': 11.02}, {'connected_gene': 'TMEM115', 'score': 10.62}, {'connected_gene': 'DCAF1', 'score': 9.94}, {'connected_gene': 'RASSF1', 'score': 4.27}, {'connected_gene': 'LINC02019', 'score': 3.84}, {'connected_gene': 'NPRL2', 'score': 2.53}, {'connected_gene': 'CYB561D2', 'score': 1.85}]
chr3	GH03I050638	50638074	50639860	0.83	[{'connected_gene': 'HEMK1', 'score': 9.39}, {'connected_gene': 'NAT6', 'score': 5.4}, {'connected_gene': 'MAPKAPK3', 'score': 0.31}, {'connected_gene': 'CISH', 'score': 0.31}, {'connected_gene': 'LINC02019', 'score': 0.29}]
chr3	GH03I050643	50643290	50644001	0.2	[{'connected_gene': 'HEMK1', 'score': 9.38}, {'connected_gene': 'LSMEM2', 'score': 5.74}, {'connected_gene': 'LINC02019', 'score': 0.31}, {'connected_gene': 'MAPKAPK3', 'score': 0.29}, {'connected_gene': 'CISH', 'score': 0.29}]
chr3	GH03I050587	50587521	50593625	1.7	[{'connected_gene': 'RAD54L2', 'score': 13.59}, {'connected_gene': 'DCAF1', 'score': 13.43}, {'connected_gene': 'HEMK1', 'score': 10.94}, {'connected_gene': 'TMEM115', 'score': 10.25}, {'connected_gene': 'RBM6', 'score': 9.77}, {'connected_gene': 'RASSF1', 'score': 7.74}, {'connected_gene': 'MAPKAPK3', 'score': 4.56}, {'connected_gene': 'HYAL1', 'score': 4.33}, {'connected_gene': 'DOCK3', 'score': 3.86}, {'connected_gene': 'CISH', 'score': 3.47}, {'connected_gene': 'RBM5', 'score': 2.13}, {'connected_gene': 'CACNA2D2', 'score': 1.62}, {'connected_gene': 'GC03P050587', 'score': 0.77}, {'connected_gene': 'PIR50420', 'score': 0.77}, {'connected_gene': 'ENSG00000280382', 'score': 0.39}]
chr3	GH03I050614	50614150	50614339	1	[{'connected_gene': 'DOCK3', 'score': 19.57}, {'connected_gene': 'C3orf18', 'score': 12.35}, {'connected_gene': 'HEMK1', 'score': 12.34}, {'connected_gene': 'MANF', 'score': 10.68}, {'connected_gene': 'MAPKAPK3', 'score': 0.77}, {'connected_gene': 'CISH', 'score': 0.77}, {'connected_gene': 'LINC02019', 'score': 0.22}]
chr3	GH03I050645	50645192	50646487	0.2	[{'connected_gene': 'LSMEM2', 'score': 5.74}, {'connected_gene': 'LINC02019', 'score': 0.34}, {'connected_gene': 'MAPKAPK3', 'score': 0.29}, {'connected_gene': 'CISH', 'score': 0.29}]
chr3	GH03I050598	50598964	50614009	3.21	[{'connected_gene': 'CISH', 'score': 557.82}, {'connected_gene': 'MAPKAPK3', 'score': 554.96}, {'connected_gene': 'HEMK1', 'score': 34.01}, {'connected_gene': 'RBM5', 'score': 31.64}, {'connected_gene': 'RBM6', 'score': 31.48}, {'connected_gene': 'TMEM115', 'score': 23.58}, {'connected_gene': 'RAD54L2', 'score': 22.02}, {'connected_gene': 'SEMA3F-AS1', 'score': 15.35}, {'connected_gene': 'C3orf18', 'score': 14.08}, {'connected_gene': 'DOCK3', 'score': 11.29}, {'connected_gene': 'RASSF1', 'score': 10.86}, {'connected_gene': 'MANF', 'score': 10.68}, {'connected_gene': 'UBA7', 'score': 10.65}, {'connected_gene': 'NAT6', 'score': 10.24}, {'connected_gene': 'TRAIP', 'score': 9.95}, {'connected_gene': 'HYAL1', 'score': 3.89}, {'connected_gene': 'ENSG00000230454', 'score': 3.87}, {'connected_gene': 'ENSG00000280382', 'score': 0.44}]
chr3	GH03I050663	50663610	50663639	0.6	[{'connected_gene': 'LINC02019', 'score': 0.44}, {'connected_gene': 'CISH', 'score': 0.23}]
chr3	GH03I050581	50581278	50587030	0.95	[{'connected_gene': 'PIR34243', 'score': 550.77}, {'connected_gene': 'MAPKAPK3', 'score': 12.8}, {'connected_gene': 'CISH', 'score': 12.8}, {'connected_gene': 'C3orf18', 'score': 0.39}, {'connected_gene': 'HEMK1', 'score': 0.37}]