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
ENST00000486777	[[73300509, 73302852], [73303120, 73303310], [73306778, 73307339]]	None
ENST00000258098	[[73300509, 73302852], [73303120, 73303310], [73315177, 73315877], [73316006, 73316443], [73339474, 73340146]]	[[73302648, 73302852], [73303120, 73303310], [73315177, 73315877], [73316006, 73316443], [73339474, 73339905]]
ENST00000482554	[[73300511, 73302852], [73303120, 73303310], [73311245, 73311524]]	None
ENST00000493523	[[73300511, 73302852], [73303120, 73303310], [73315177, 73315877], [73316006, 73316783]]	None
ENST00000479196	[[73308331, 73308657], [73315177, 73315456]]	None
ENST00000475951	[[73316069, 73316443], [73383765, 73383849]]	None
NM_015470	[[73300509, 73302852], [73303120, 73303310], [73315177, 73315877], [73316006, 73316443], [73339474, 73340146]]	[[73302648, 73302852], [73303120, 73303310], [73315177, 73315877], [73316006, 73316443], [73339474, 73339905]]

Promoter

Chrom	Start	End	Description
chr2	73302288	73302299	CAGE_peak_13_at_RAB11FIP5_5end
chr2	73306856	73306868	CAGE_peak_11_at_RAB11FIP5_5end
chr2	73311401	73311431	CAGE_peak_17_at_RAB11FIP5_5end
chr2	73316776	73316815	CAGE_peak_4_at_RAB11FIP5_5end
chr2	73339985	73340009	CAGE_peak_2_at_RAB11FIP5_5end
chr2	73340013	73340113	CAGE_peak_1_at_RAB11FIP5_5end
chr2	73340160	73340185	CAGE_peak_5_at_RAB11FIP5_5end
chr2	73340190	73340229	CAGE_peak_3_at_RAB11FIP5_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I073069	73069186	73072691	2.09	[{'connected_gene': 'SFXN5', 'score': 550.77}, {'connected_gene': 'DUSP11', 'score': 27.93}, {'connected_gene': 'CCT7', 'score': 25.63}, {'connected_gene': 'ENSG00000273245', 'score': 21.16}, {'connected_gene': 'ALMS1', 'score': 19.21}, {'connected_gene': 'TPRKB', 'score': 12.37}, {'connected_gene': 'SMYD5', 'score': 11.55}, {'connected_gene': 'DGUOK-AS1', 'score': 10.15}, {'connected_gene': 'RAB11FIP5', 'score': 6.3}, {'connected_gene': 'PIR43769', 'score': 0.77}, {'connected_gene': 'GC02M073119', 'score': 0.77}, {'connected_gene': 'LOC105374800', 'score': 0.37}]
chr2	GH02I072999	72999979	73002080	0.92	[{'connected_gene': 'SFXN5', 'score': 11.26}, {'connected_gene': 'SPR', 'score': 10.76}, {'connected_gene': 'RAB11FIP5', 'score': 9.02}, {'connected_gene': 'GC02P072995', 'score': 0.44}, {'connected_gene': 'LOC105374800', 'score': 0.23}]
chr2	GH02I072985	72985992	72986141	0.71	[{'connected_gene': 'SFXN5', 'score': 11.45}, {'connected_gene': 'RAB11FIP5', 'score': 11.04}, {'connected_gene': 'SPR', 'score': 10.63}, {'connected_gene': 'GC02P072995', 'score': 0.44}, {'connected_gene': 'PIR59519', 'score': 0.34}]
chr2	GH02I073105	73105513	73105662	0.4	[{'connected_gene': 'SFXN5', 'score': 11.86}, {'connected_gene': 'RAB11FIP5', 'score': 11.82}, {'connected_gene': 'EMX1', 'score': 10.29}, {'connected_gene': 'ENSG00000272702', 'score': 0.44}, {'connected_gene': 'GC02M073116', 'score': 0.34}, {'connected_gene': 'PIR41361', 'score': 0.34}]
chr2	GH02I073104	73104973	73105122	0.4	[{'connected_gene': 'SFXN5', 'score': 11.86}, {'connected_gene': 'RAB11FIP5', 'score': 11.82}, {'connected_gene': 'EMX1', 'score': 10.29}, {'connected_gene': 'ENSG00000272702', 'score': 0.44}, {'connected_gene': 'GC02M073116', 'score': 0.34}, {'connected_gene': 'PIR41361', 'score': 0.34}]
chr2	GH02I073007	73007185	73008080	0.52	[{'connected_gene': 'SFXN5', 'score': 11.13}, {'connected_gene': 'RAB11FIP5', 'score': 9.4}, {'connected_gene': 'GC02P072995', 'score': 0.39}, {'connected_gene': 'LOC105374800', 'score': 0.25}]
chr2	GH02I072986	72986191	72986700	0.69	[{'connected_gene': 'RAB11FIP5', 'score': 19.86}, {'connected_gene': 'SFXN5', 'score': 11.45}, {'connected_gene': 'SPR', 'score': 10.63}, {'connected_gene': 'GC02P072995', 'score': 0.44}, {'connected_gene': 'PIR59519', 'score': 0.34}]
chr2	GH02I072983	72983612	72985388	0.69	[{'connected_gene': 'RAB11FIP5', 'score': 16.4}, {'connected_gene': 'SFXN5', 'score': 15.19}, {'connected_gene': 'SPR', 'score': 10.95}, {'connected_gene': 'GC02P072995', 'score': 0.39}, {'connected_gene': 'PIR59519', 'score': 0.37}]
chr2	GH02I073020	73020351	73022043	0.91	[{'connected_gene': 'RAB11FIP5', 'score': 19.16}, {'connected_gene': 'SFXN5', 'score': 11.79}, {'connected_gene': 'EMX1', 'score': 10.63}, {'connected_gene': 'SPR', 'score': 10.36}, {'connected_gene': 'GC02P072995', 'score': 0.31}, {'connected_gene': 'LOC105374800', 'score': 0.29}]
chr2	GH02I073106	73106240	73108900	0.89	[{'connected_gene': 'RAB11FIP5', 'score': 20.79}, {'connected_gene': 'SFXN5', 'score': 11.84}, {'connected_gene': 'EMX1', 'score': 10.28}, {'connected_gene': 'ENSG00000272702', 'score': 0.44}, {'connected_gene': 'GC02M073116', 'score': 0.31}, {'connected_gene': 'PIR41361', 'score': 0.31}]
chr2	GH02I072979	72979601	72981095	0.72	[{'connected_gene': 'RAB11FIP5', 'score': 6.21}, {'connected_gene': 'PIR59519', 'score': 0.39}, {'connected_gene': 'GC02P072995', 'score': 0.37}, {'connected_gene': 'SFXN5', 'score': 0.15}]
chr2	GH02I073109	73109296	73114494	2.44	[{'connected_gene': 'RAB11FIP5', 'score': 572.31}, {'connected_gene': 'ENSG00000272702', 'score': 550.77}, {'connected_gene': 'DUSP11', 'score': 23.75}, {'connected_gene': 'ENSG00000273245', 'score': 21.08}, {'connected_gene': 'SFXN5', 'score': 16.03}, {'connected_gene': 'EMX1', 'score': 10.28}, {'connected_gene': 'SPR', 'score': 10.01}, {'connected_gene': 'SMYD5', 'score': 4.49}, {'connected_gene': 'GC02M073116', 'score': 0.29}, {'connected_gene': 'PIR41361', 'score': 0.29}]
chr2	GH02I073156	73156332	73157229	1.02	[{'connected_gene': 'RAB11FIP5', 'score': 550.77}, {'connected_gene': 'DUSP11', 'score': 12.29}, {'connected_gene': 'ENSG00000273245', 'score': 11.7}, {'connected_gene': 'PRADC1', 'score': 9.58}, {'connected_gene': 'SFXN5', 'score': 4.44}, {'connected_gene': 'GC02P073186', 'score': 0.31}]
chr2	GH02I073082	73082655	73083315	0.2	[{'connected_gene': 'RAB11FIP5', 'score': 19.65}, {'connected_gene': 'SPR', 'score': 10.22}, {'connected_gene': 'GC02M073116', 'score': 0.77}, {'connected_gene': 'PIR41361', 'score': 0.77}, {'connected_gene': 'ENSG00000272702', 'score': 0.29}]
chr2	GH02I073083	73083500	73092800	1.28	[{'connected_gene': 'RAB11FIP5', 'score': 20.85}, {'connected_gene': 'SPR', 'score': 10.23}, {'connected_gene': 'GC02M073116', 'score': 0.44}, {'connected_gene': 'PIR41361', 'score': 0.44}, {'connected_gene': 'ENSG00000272702', 'score': 0.34}]
chr2	GH02I073030	73030928	73035400	1.15	[{'connected_gene': 'RAB11FIP5', 'score': 9.37}, {'connected_gene': 'CCT7', 'score': 5.2}, {'connected_gene': 'SFXN5', 'score': 4.75}, {'connected_gene': 'LOC105374800', 'score': 0.34}, {'connected_gene': 'GC02P072995', 'score': 0.28}]
chr2	GH02I073044	73044055	73045310	0.62	[{'connected_gene': 'RAB11FIP5', 'score': 7.64}, {'connected_gene': 'LOC105374800', 'score': 0.39}, {'connected_gene': 'SFXN5', 'score': 0.29}, {'connected_gene': 'GC02P072995', 'score': 0.25}]
chr2	GH02I073102	73102444	73104272	0.59	[{'connected_gene': 'RAB11FIP5', 'score': 9.0}, {'connected_gene': 'ENSG00000272702', 'score': 0.44}, {'connected_gene': 'GC02M073116', 'score': 0.34}, {'connected_gene': 'PIR41361', 'score': 0.34}]
chr2	GH02I073163	73163873	73164022	0.68	[{'connected_gene': 'RAB11FIP5', 'score': 0.44}, {'connected_gene': 'GC02P073186', 'score': 0.34}]
chr2	GH02I073062	73062214	73065547	1.06	[{'connected_gene': 'EMX1', 'score': 10.08}, {'connected_gene': 'RAB11FIP5', 'score': 6.88}, {'connected_gene': 'LOC105374800', 'score': 0.44}, {'connected_gene': 'PIR43769', 'score': 0.39}, {'connected_gene': 'SFXN5', 'score': 0.39}, {'connected_gene': 'GC02M073119', 'score': 0.39}]
chr2	GH02I073212	73212513	73213203	0.82	[{'connected_gene': 'SMYD5', 'score': 550.77}, {'connected_gene': 'PRADC1', 'score': 20.15}, {'connected_gene': 'CCT7', 'score': 17.49}, {'connected_gene': 'RAB11FIP5', 'score': 10.7}, {'connected_gene': 'SFXN5', 'score': 10.16}, {'connected_gene': 'SPR', 'score': 10.0}, {'connected_gene': 'NOTO', 'score': 0.39}]
chr2	GH02I073175	73175043	73178265	1.56	[{'connected_gene': 'SMYD5', 'score': 21.01}, {'connected_gene': 'ALMS1', 'score': 14.1}, {'connected_gene': 'DUSP11', 'score': 13.27}, {'connected_gene': 'SFXN5', 'score': 12.86}, {'connected_gene': 'PRADC1', 'score': 11.86}, {'connected_gene': 'NOTO', 'score': 11.63}, {'connected_gene': 'SPR', 'score': 11.18}, {'connected_gene': 'ENSG00000273245', 'score': 11.14}, {'connected_gene': 'EMX1', 'score': 10.46}, {'connected_gene': 'CCT7', 'score': 5.09}, {'connected_gene': 'EGR4', 'score': 1.45}, {'connected_gene': 'GC02P073186', 'score': 0.44}, {'connected_gene': 'RAB11FIP5', 'score': 0.37}]
chr2	GH02I073191	73191133	73192599	0.79	[{'connected_gene': 'SMYD5', 'score': 21.9}, {'connected_gene': 'RAB11FIP5', 'score': 11.24}, {'connected_gene': 'PRADC1', 'score': 11.02}, {'connected_gene': 'SFXN5', 'score': 10.97}, {'connected_gene': 'SPR', 'score': 9.87}, {'connected_gene': 'EMX1', 'score': 9.82}, {'connected_gene': 'CCT7', 'score': 4.99}, {'connected_gene': 'GC02P073186', 'score': 0.44}, {'connected_gene': 'NOTO', 'score': 0.39}]
chr2	GH02I073080	73080257	73081453	0.43	[{'connected_gene': 'PIR34303', 'score': 550.77}, {'connected_gene': 'GC02M073116', 'score': 550.77}, {'connected_gene': 'PIR41361', 'score': 550.77}, {'connected_gene': 'RAB11FIP5', 'score': 19.16}, {'connected_gene': 'ENSG00000272702', 'score': 0.29}]
chr2	GH02I072963	72963095	72964141	0.72	[{'connected_gene': 'GC02P072965', 'score': 550.77}, {'connected_gene': 'PIR59519', 'score': 550.77}, {'connected_gene': 'EMX1', 'score': 11.44}, {'connected_gene': 'SPR', 'score': 11.29}, {'connected_gene': 'RAB11FIP5', 'score': 10.92}, {'connected_gene': 'SFXN5', 'score': 10.41}, {'connected_gene': 'ALMS1P1', 'score': 5.09}, {'connected_gene': 'PIR39506', 'score': 0.34}]