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
ENST00000452853	[[149682690, 149684051], [149686144, 149686337], [149688511, 149688737]]	[[149683953, 149684051], [149686144, 149686337], [149688511, 149688643]]
ENST00000239940	[[149682690, 149684373], [149686144, 149686337], [149688511, 149688896]]	[[149684275, 149684373], [149686144, 149686337], [149688511, 149688643]]
ENST00000423691	[[149682699, 149683134], [149683966, 149684051], [149686144, 149686337], [149688511, 149688709]]	[[149682977, 149683134], [149683966, 149684051], [149686144, 149686337], [149688511, 149688643]]
ENST00000481767	[[149682721, 149684051], [149686144, 149686337], [149688405, 149688502]]	[[149683953, 149684051], [149686144, 149686322]]
ENST00000460404	[[149683475, 149684051], [149686144, 149686330], [149688511, 149688691]]	[[149686324, 149686330], [149688511, 149688643]]
ENST00000468323	[[149683499, 149684051], [149686144, 149686312], [149688511, 149688685]]	[[149686276, 149686312], [149688511, 149688643]]
ENST00000494827	[[149683643, 149684051], [149686144, 149686337], [149740406, 149740598]]	[[149683953, 149684051], [149686144, 149686322]]
ENST00000497060	[[149683839, 149684051], [149686140, 149686692]]	None
ENST00000490975	[[149683864, 149684373], [149686189, 149686337], [149688511, 149688712]]	[[149684275, 149684373], [149686189, 149686337], [149688511, 149688643]]
ENST00000497148	[[149683947, 149684373], [149686144, 149686337], [149768451, 149768575]]	[[149684275, 149684373], [149686144, 149686322]]
ENST00000498169	[[149684037, 149684373], [149686144, 149686312], [149688511, 149688669]]	[[149686276, 149686312], [149688511, 149688643]]
ENST00000475518	[[149684046, 149684373], [149686144, 149686337], [149688405, 149688522]]	[[149684275, 149684373], [149686144, 149686322]]
ENST00000481275	[[149684054, 149684373], [149686144, 149686337], [149688140, 149688188]]	[[149684275, 149684373], [149686144, 149686322]]
ENST00000498307	[[149684071, 149684373], [149686144, 149686337], [149688939, 149689000]]	[[149684275, 149684373], [149686144, 149686322]]
ENST00000489155	[[149684102, 149684373], [149686144, 149686337], [149688838, 149689010]]	[[149684275, 149684373], [149686144, 149686322]]
ENST00000461930	[[149685904, 149686330], [149688511, 149688691]]	[[149686324, 149686330], [149688511, 149688643]]
ENST00000461868	[[149685940, 149686337], [149688511, 149688727]]	[[149686136, 149686337], [149688511, 149688643]]
NM_053024	[[149682690, 149684373], [149686144, 149686337], [149688511, 149688741]]	[[149684275, 149684373], [149686144, 149686337], [149688511, 149688643]]
NM_002628	[[149682690, 149684051], [149686144, 149686337], [149688511, 149688741]]	[[149683953, 149684051], [149686144, 149686337], [149688511, 149688643]]

Promoter

Chrom	Start	End	Description
chr3	149688518	149688526	CAGE_peak_5_at_PFN2_5end
chr3	149688655	149688714	CAGE_peak_1_at_PFN2_5end
chr3	149688909	149688970	CAGE_peak_2_at_PFN2_5end
chr3	149688971	149688982	CAGE_peak_3_at_PFN2_5end
chr3	149689213	149689226	CAGE_peak_8_at_PFN2_5end
chr3	149689235	149689261	CAGE_peak_4_at_PFN2_5end
chr3	149689265	149689285	CAGE_peak_6_at_PFN2_5end
chr3	149689301	149689320	CAGE_peak_10_at_PFN2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr3	GH03I150495	150495201	150495843	0.88	[{'connected_gene': 'TSC22D2', 'score': 12.16}, {'connected_gene': 'PFN2', 'score': 10.75}, {'connected_gene': 'ENSG00000242791', 'score': 10.74}, {'connected_gene': 'ANKUB1', 'score': 10.74}, {'connected_gene': 'EIF2A', 'score': 6.07}, {'connected_gene': 'GC03M150475', 'score': 0.37}]
chr3	GH03I150059	150059610	150064096	0.83	[{'connected_gene': 'TMEM183B', 'score': 5.71}, {'connected_gene': 'PFN2', 'score': 5.6}, {'connected_gene': 'LINC01998', 'score': 0.37}, {'connected_gene': 'ENSG00000243944', 'score': 0.34}]
chr3	GH03I149983	149983001	149983400	0.73	[{'connected_gene': 'TMEM183B', 'score': 550.77}, {'connected_gene': 'PPIAP73', 'score': 550.77}, {'connected_gene': 'PFN2', 'score': 16.36}, {'connected_gene': 'LOC730021', 'score': 10.48}, {'connected_gene': 'LINC01998', 'score': 10.22}, {'connected_gene': 'ENSG00000242791', 'score': 0.44}]
chr3	GH03I150093	150093754	150095315	0.83	[{'connected_gene': 'PFN2', 'score': 11.56}, {'connected_gene': 'LOC730021', 'score': 11.56}, {'connected_gene': 'ANKUB1', 'score': 10.59}, {'connected_gene': 'ENSG00000242791', 'score': 10.59}, {'connected_gene': 'LOC105374313', 'score': 0.77}, {'connected_gene': 'ENSG00000243944', 'score': 0.22}, {'connected_gene': 'RPL32P9', 'score': 0.22}]
chr3	GH03I150022	150022814	150022963	0.46	[{'connected_gene': 'PFN2', 'score': 12.43}, {'connected_gene': 'LOC730021', 'score': 12.43}, {'connected_gene': 'ENSG00000242791', 'score': 11.19}, {'connected_gene': 'ANKUB1', 'score': 11.18}, {'connected_gene': 'ENSG00000243944', 'score': 0.37}, {'connected_gene': 'HNRNPA1P24', 'score': 0.34}]
chr3	GH03I150129	150129981	150131171	0.43	[{'connected_gene': 'PFN2', 'score': 11.05}, {'connected_gene': 'LOC730021', 'score': 11.05}, {'connected_gene': 'LINC01998', 'score': 10.79}, {'connected_gene': 'RPL32P9', 'score': 0.37}, {'connected_gene': 'LOC105374313', 'score': 0.26}, {'connected_gene': 'ENSG00000243944', 'score': 0.16}]
chr3	GH03I149968	149967726	149972601	1.97	[{'connected_gene': 'PFN2', 'score': 560.26}, {'connected_gene': 'LOC646903', 'score': 550.77}, {'connected_gene': 'GC03P149970', 'score': 550.77}, {'connected_gene': 'ANKUB1', 'score': 550.77}]
chr3	GH03I150220	150220801	150221600	0.9	[{'connected_gene': 'PFN2', 'score': 12.03}, {'connected_gene': 'ENSG00000242791', 'score': 12.01}, {'connected_gene': 'ANKUB1', 'score': 12.01}, {'connected_gene': 'TSC22D2', 'score': 11.08}, {'connected_gene': 'LINC01998', 'score': 9.71}, {'connected_gene': 'ENSG00000241048', 'score': 0.77}, {'connected_gene': 'GC03P150194', 'score': 0.31}]
chr3	GH03I150227	150227914	150228201	0.89	[{'connected_gene': 'PFN2', 'score': 11.33}, {'connected_gene': 'ANKUB1', 'score': 11.3}, {'connected_gene': 'ENSG00000242791', 'score': 11.3}, {'connected_gene': 'TSC22D2', 'score': 10.62}, {'connected_gene': 'ENSG00000241048', 'score': 0.77}, {'connected_gene': 'LINC01213', 'score': 0.39}]
chr3	GH03I150319	150319240	150320717	1.03	[{'connected_gene': 'PFN2', 'score': 10.44}, {'connected_gene': 'ANKUB1', 'score': 10.43}, {'connected_gene': 'ENSG00000242791', 'score': 10.43}, {'connected_gene': 'EIF2A', 'score': 4.6}, {'connected_gene': 'LINC01214', 'score': 0.77}, {'connected_gene': 'LOC105374154', 'score': 0.26}]
chr3	GH03I150215	150215757	150217103	0.94	[{'connected_gene': 'PFN2', 'score': 11.77}, {'connected_gene': 'ENSG00000242791', 'score': 11.74}, {'connected_gene': 'ANKUB1', 'score': 11.74}, {'connected_gene': 'LOC730021', 'score': 10.63}, {'connected_gene': 'TSC22D2', 'score': 10.45}, {'connected_gene': 'LINC01998', 'score': 10.12}, {'connected_gene': 'ENSG00000241048', 'score': 0.44}, {'connected_gene': 'GC03P150194', 'score': 0.34}]
chr3	GH03I150145	150145814	150145983	0.2	[{'connected_gene': 'PFN2', 'score': 10.85}, {'connected_gene': 'ENSG00000242791', 'score': 10.79}, {'connected_gene': 'ANKUB1', 'score': 10.79}, {'connected_gene': 'LINC01998', 'score': 10.14}, {'connected_gene': 'RPL32P9', 'score': 0.77}, {'connected_gene': 'LOC105374313', 'score': 0.22}, {'connected_gene': 'ENSG00000243944', 'score': 0.14}]
chr3	GH03I150248	150248077	150250745	0.95	[{'connected_gene': 'PFN2', 'score': 10.45}, {'connected_gene': 'ANKUB1', 'score': 10.43}, {'connected_gene': 'ENSG00000242791', 'score': 10.43}, {'connected_gene': 'ENSG00000278234', 'score': 0.44}, {'connected_gene': 'LOC105374154', 'score': 0.31}]
chr3	GH03I150232	150232971	150233963	0.66	[{'connected_gene': 'PFN2', 'score': 10.96}, {'connected_gene': 'ENSG00000242791', 'score': 10.94}, {'connected_gene': 'ANKUB1', 'score': 10.93}, {'connected_gene': 'ENSG00000241048', 'score': 0.44}, {'connected_gene': 'LINC01213', 'score': 0.44}]
chr3	GH03I150183	150183696	150185000	1.07	[{'connected_gene': 'PFN2', 'score': 11.79}, {'connected_gene': 'ENSG00000242791', 'score': 11.75}, {'connected_gene': 'ANKUB1', 'score': 11.75}, {'connected_gene': 'GC03P150194', 'score': 0.44}, {'connected_gene': 'RPL32P9', 'score': 0.29}, {'connected_gene': 'ENSG00000243944', 'score': 0.11}]
chr3	GH03I149780	149780807	149784832	0.82	[{'connected_gene': 'PFN2', 'score': 14.74}, {'connected_gene': 'RNF13', 'score': 12.93}, {'connected_gene': 'WWTR1', 'score': 10.22}, {'connected_gene': 'WWTR1-AS1', 'score': 9.95}, {'connected_gene': 'TMEM183B', 'score': 5.8}, {'connected_gene': 'RNU6-507P', 'score': 0.77}, {'connected_gene': 'ANKUB1', 'score': 0.09}]
chr3	GH03I150146	150146331	150150736	1.15	[{'connected_gene': 'PFN2', 'score': 16.64}, {'connected_gene': 'LINC01998', 'score': 10.91}, {'connected_gene': 'ENSG00000242791', 'score': 10.65}, {'connected_gene': 'ANKUB1', 'score': 10.65}, {'connected_gene': 'RPL32P9', 'score': 0.77}, {'connected_gene': 'LOC105374313', 'score': 0.22}, {'connected_gene': 'ENSG00000243944', 'score': 0.14}]
chr3	GH03I150064	150064487	150066112	0.2	[{'connected_gene': 'PFN2', 'score': 0.39}, {'connected_gene': 'LINC01998', 'score': 0.39}, {'connected_gene': 'ENSG00000243944', 'score': 0.31}]
chr3	GH03I149947	149947227	149947423	0.26	[{'connected_gene': 'ANKUB1', 'score': 12.02}, {'connected_gene': 'ENSG00000242791', 'score': 12.0}, {'connected_gene': 'PFN2', 'score': 11.83}, {'connected_gene': 'NPM1P29', 'score': 0.44}, {'connected_gene': 'LOC105374152', 'score': 0.39}, {'connected_gene': 'RNF13', 'score': 0.12}]
chr3	GH03I149967	149967194	149967343	0.67	[{'connected_gene': 'ANKUB1', 'score': 550.77}, {'connected_gene': 'LOC105374152', 'score': 0.44}, {'connected_gene': 'PFN2', 'score': 0.18}]
chr3	GH03I149811	149811919	149817803	2.33	[{'connected_gene': 'RNF13', 'score': 573.49}, {'connected_gene': 'PFN2', 'score': 25.26}, {'connected_gene': 'COMMD2', 'score': 16.93}, {'connected_gene': 'TSC22D2', 'score': 11.2}, {'connected_gene': 'TMEM183B', 'score': 7.36}, {'connected_gene': 'RNU6-720P', 'score': 0.15}, {'connected_gene': 'ANKUB1', 'score': 0.1}]
chr3	GH03I150105	150105851	150108049	0.78	[{'connected_gene': 'LINC01998', 'score': 11.58}, {'connected_gene': 'PFN2', 'score': 10.82}, {'connected_gene': 'LOC730021', 'score': 10.82}, {'connected_gene': 'LOC105374313', 'score': 0.37}, {'connected_gene': 'RPL32P9', 'score': 0.26}, {'connected_gene': 'ENSG00000243944', 'score': 0.2}]
chr3	GH03I150035	150035454	150035603	0.43	[{'connected_gene': 'LINC01998', 'score': 11.44}, {'connected_gene': 'ENSG00000243944', 'score': 0.77}, {'connected_gene': 'PFN2', 'score': 0.37}, {'connected_gene': 'HNRNPA1P24', 'score': 0.28}]
chr3	GH03I150077	150077941	150081790	0.85	[{'connected_gene': 'LINC01998', 'score': 562.15}, {'connected_gene': 'PFN2', 'score': 0.31}, {'connected_gene': 'ENSG00000243944', 'score': 0.26}]
chr3	GH03I150071	150071297	150071628	0.51	[{'connected_gene': 'LINC01998', 'score': 0.44}, {'connected_gene': 'PFN2', 'score': 0.34}, {'connected_gene': 'ENSG00000243944', 'score': 0.29}]
chr3	GH03I150074	150074401	150075000	0.6	[{'connected_gene': 'LINC01998', 'score': 0.44}, {'connected_gene': 'PFN2', 'score': 0.34}, {'connected_gene': 'ENSG00000243944', 'score': 0.28}]
chr3	GH03I150069	150069027	150070980	0.66	[{'connected_gene': 'LINC01998', 'score': 0.39}, {'connected_gene': 'PFN2', 'score': 0.37}, {'connected_gene': 'ENSG00000243944', 'score': 0.29}]
chr3	GH03I150234	150234796	150239403	1.07	[{'connected_gene': 'LINC01213', 'score': 550.77}, {'connected_gene': 'PFN2', 'score': 10.95}, {'connected_gene': 'ENSG00000242791', 'score': 10.93}, {'connected_gene': 'ANKUB1', 'score': 10.93}, {'connected_gene': 'ENSG00000241048', 'score': 0.39}]
chr3	GH03I150225	150225913	150226670	0.31	[{'connected_gene': 'ENSG00000241048', 'score': 550.77}, {'connected_gene': 'PFN2', 'score': 11.88}, {'connected_gene': 'ANKUB1', 'score': 11.86}, {'connected_gene': 'ENSG00000242791', 'score': 11.85}, {'connected_gene': 'TSC22D2', 'score': 11.09}, {'connected_gene': 'LINC01998', 'score': 9.58}, {'connected_gene': 'LINC01213', 'score': 0.39}]
chr3	GH03I150242	150242264	150242905	0.38	[{'connected_gene': 'ENSG00000278234', 'score': 550.77}, {'connected_gene': 'PFN2', 'score': 10.56}, {'connected_gene': 'ENSG00000242791', 'score': 10.54}, {'connected_gene': 'ANKUB1', 'score': 10.53}, {'connected_gene': 'LOC105374154', 'score': 0.29}]