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
ENST00000569085	[[67263289, 67263893], [67263968, 67264099]]	None
ENST00000258201	[[67263291, 67263621], [67263695, 67263893], [67263968, 67264131], [67264216, 67264409], [67264503, 67264694], [67265090, 67265252], [67265332, 67265452], [67265539, 67265722], [67265941, 67266097], [67267559, 67268170], [67268259, 67268375], [67270459, 67270636], [67270868, 67271017], [67271141, 67271285], [67271377, 67271472], [67271559, 67271671], [67271936, 67272031], [67272104, 67272210], [67272282, 67272350], [67272805, 67272870], [67273250, 67273357], [67281112, 67281561]]	[[67263538, 67263621], [67263695, 67263893], [67263968, 67264131], [67264216, 67264409], [67264503, 67264694], [67265090, 67265252], [67265332, 67265452], [67265539, 67265722], [67265941, 67266097], [67267559, 67268170], [67268259, 67268375], [67270459, 67270636], [67270868, 67271017], [67271141, 67271285], [67271377, 67271472], [67271559, 67271671], [67271936, 67272031], [67272104, 67272210], [67272282, 67272350], [67272805, 67272870], [67273250, 67273357], [67281112, 67281313]]
ENST00000567752	[[67263293, 67263621], [67263695, 67263893], [67263968, 67264131], [67264216, 67264409], [67264503, 67264694], [67265090, 67265252], [67265332, 67265452], [67265539, 67265722], [67265941, 67266097], [67267559, 67268170], [67268259, 67268375], [67270459, 67270636], [67270868, 67271017], [67271141, 67271285], [67271377, 67271472], [67271559, 67271671], [67271936, 67272031], [67272104, 67272870], [67273250, 67273357], [67281112, 67281367]]	None
ENST00000566006	[[67264216, 67264409], [67264503, 67264983]]	None
ENST00000567561	[[67264231, 67264409], [67264503, 67264694], [67265332, 67265452], [67265539, 67265803], [67265941, 67265961]]	[[67265755, 67265803], [67265941, 67265961]]
ENST00000567509	[[67265352, 67265452], [67265539, 67265741], [67265941, 67266097], [67267559, 67267664]]	[[67265675, 67265741], [67265941, 67266097], [67267559, 67267664]]
ENST00000569888	[[67265692, 67266097], [67267559, 67267934]]	None
ENST00000561922	[[67267583, 67268170], [67268259, 67268375], [67270459, 67270628], [67270868, 67271017], [67271141, 67271285], [67271377, 67271472], [67271559, 67271671], [67271936, 67272031], [67272104, 67272173], [67272282, 67272374], [67272805, 67272870], [67273250, 67273357], [67281112, 67281381]]	[[67272164, 67272173], [67272282, 67272374], [67272805, 67272870], [67273250, 67273357], [67281112, 67281313]]
ENST00000568595	[[67267850, 67268170], [67268259, 67268375], [67270313, 67270337], [67270459, 67270519]]	[[67268374, 67268375], [67270313, 67270337], [67270459, 67270519]]
ENST00000562266	[[67268082, 67268170], [67268259, 67268657]]	None
NM_001318202	[[67263291, 67263621], [67263695, 67263893], [67263968, 67264131], [67264216, 67264409], [67264503, 67264694], [67265090, 67265252], [67265332, 67265452], [67265539, 67265722], [67265941, 67266097], [67267559, 67268170], [67268259, 67268375], [67269918, 67269972], [67270313, 67270337], [67270459, 67270636], [67270868, 67271017], [67271141, 67271285], [67271377, 67271472], [67271559, 67271671], [67271936, 67272031], [67272104, 67272210], [67272282, 67272350], [67272805, 67272870], [67273250, 67273357], [67281112, 67281425]]	[[67263538, 67263621], [67263695, 67263893], [67263968, 67264131], [67264216, 67264409], [67264503, 67264694], [67265090, 67265252], [67265332, 67265452], [67265539, 67265722], [67265941, 67266097], [67267559, 67268170], [67268259, 67268375], [67269918, 67269972], [67270313, 67270337], [67270459, 67270636], [67270868, 67271017], [67271141, 67271285], [67271377, 67271472], [67271559, 67271671], [67271936, 67272031], [67272104, 67272210], [67272282, 67272350], [67272805, 67272870], [67273250, 67273357], [67281112, 67281313]]
NM_013241	[[67263291, 67263621], [67263695, 67263893], [67263968, 67264131], [67264216, 67264409], [67264503, 67264694], [67265090, 67265252], [67265332, 67265452], [67265539, 67265722], [67265941, 67266097], [67267559, 67268170], [67268259, 67268375], [67270459, 67270636], [67270868, 67271017], [67271141, 67271285], [67271377, 67271472], [67271559, 67271671], [67271936, 67272031], [67272104, 67272210], [67272282, 67272350], [67272805, 67272870], [67273250, 67273357], [67281112, 67281425]]	[[67263538, 67263621], [67263695, 67263893], [67263968, 67264131], [67264216, 67264409], [67264503, 67264694], [67265090, 67265252], [67265332, 67265452], [67265539, 67265722], [67265941, 67266097], [67267559, 67268170], [67268259, 67268375], [67270459, 67270636], [67270868, 67271017], [67271141, 67271285], [67271377, 67271472], [67271559, 67271671], [67271936, 67272031], [67272104, 67272210], [67272282, 67272350], [67272805, 67272870], [67273250, 67273357], [67281112, 67281313]]

Promoter

Chrom	Start	End	Description
chr16	67281363	67281410	CAGE_peak_1_at_FHOD1_5end
chr16	67281413	67281433	CAGE_peak_2_at_FHOD1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr16	GH16I067114	67114403	67117604	1.41	[{'connected_gene': 'ATP6V0D1', 'score': 12.65}, {'connected_gene': 'C16orf70', 'score': 5.69}, {'connected_gene': 'ENSG00000260465', 'score': 5.65}, {'connected_gene': 'CBFB', 'score': 5.0}, {'connected_gene': 'KIAA0895L', 'score': 4.08}, {'connected_gene': 'RIPOR1', 'score': 2.25}, {'connected_gene': 'LRRC29', 'score': 1.9}, {'connected_gene': 'FHOD1', 'score': 1.33}, {'connected_gene': 'PIR51258', 'score': 0.29}]
chr16	GH16I066871	66871289	66876391	1.89	[{'connected_gene': 'NAE1', 'score': 550.77}, {'connected_gene': 'CES2', 'score': 24.74}, {'connected_gene': 'E2F4', 'score': 16.72}, {'connected_gene': 'CA7', 'score': 15.97}, {'connected_gene': 'PLEKHG4', 'score': 12.66}, {'connected_gene': 'ZDHHC1', 'score': 12.48}, {'connected_gene': 'ENSG00000260465', 'score': 11.29}, {'connected_gene': 'FAM96B', 'score': 10.87}, {'connected_gene': 'FBXL8', 'score': 10.25}, {'connected_gene': 'CTCF', 'score': 10.19}, {'connected_gene': 'TRADD', 'score': 10.12}, {'connected_gene': 'FHOD1', 'score': 7.82}, {'connected_gene': 'B3GNT9', 'score': 7.27}, {'connected_gene': 'LINC00920', 'score': 5.85}, {'connected_gene': 'CDH16', 'score': 5.19}, {'connected_gene': 'TERB1', 'score': 4.89}, {'connected_gene': 'PDP2', 'score': 3.26}, {'connected_gene': 'CMTM4', 'score': 3.03}, {'connected_gene': 'CES4A', 'score': 2.92}, {'connected_gene': 'DYNC1LI2', 'score': 2.27}, {'connected_gene': 'SLC9A5', 'score': 2.14}, {'connected_gene': 'CES3', 'score': 2.09}, {'connected_gene': 'KIAA0895L', 'score': 1.66}, {'connected_gene': 'CBFB', 'score': 1.19}]
chr16	GH16I067310	67310692	67313591	1.46	[{'connected_gene': 'NAE1', 'score': 40.27}, {'connected_gene': 'ZDHHC1', 'score': 21.05}, {'connected_gene': 'PLEKHG4', 'score': 17.39}, {'connected_gene': 'ENSG00000260465', 'score': 16.3}, {'connected_gene': 'ACD', 'score': 12.64}, {'connected_gene': 'KIAA0895L', 'score': 12.07}, {'connected_gene': 'PRMT7', 'score': 11.28}, {'connected_gene': 'CENPT', 'score': 10.81}, {'connected_gene': 'EDC4', 'score': 10.01}, {'connected_gene': 'RRAD', 'score': 4.23}, {'connected_gene': 'ATP6V0D1', 'score': 4.08}, {'connected_gene': 'FHOD1', 'score': 2.62}, {'connected_gene': 'CBFB', 'score': 2.05}, {'connected_gene': 'RIPOR1', 'score': 1.9}, {'connected_gene': 'PIR41644', 'score': 0.44}, {'connected_gene': 'PIR58758', 'score': 0.39}, {'connected_gene': 'KCTD19', 'score': 0.39}]
chr16	GH16I067527	67527850	67532282	2.48	[{'connected_gene': 'RIPOR1', 'score': 554.95}, {'connected_gene': 'LOC100505942', 'score': 550.77}, {'connected_gene': 'ZDHHC1', 'score': 21.48}, {'connected_gene': 'NAE1', 'score': 20.42}, {'connected_gene': 'ENKD1', 'score': 20.01}, {'connected_gene': 'C16orf70', 'score': 15.81}, {'connected_gene': 'KIAA0895L', 'score': 14.38}, {'connected_gene': 'ACD', 'score': 13.91}, {'connected_gene': 'ATP6V0D1', 'score': 13.76}, {'connected_gene': 'EDC4', 'score': 12.03}, {'connected_gene': 'PRMT7', 'score': 11.02}, {'connected_gene': 'CENPT', 'score': 10.77}, {'connected_gene': 'SLC7A6OS', 'score': 10.07}, {'connected_gene': 'PSMB10', 'score': 5.71}, {'connected_gene': 'LRRC29', 'score': 4.05}, {'connected_gene': 'DPEP2', 'score': 3.97}, {'connected_gene': 'FHOD1', 'score': 3.25}, {'connected_gene': 'TPPP3', 'score': 2.38}, {'connected_gene': 'DDX28', 'score': 1.68}, {'connected_gene': 'HSF4', 'score': 1.35}, {'connected_gene': 'SLC9A5', 'score': 1.18}, {'connected_gene': 'ENSG00000261396', 'score': 0.39}]
chr16	GH16I067235	67235702	67237430	0.86	[{'connected_gene': 'SLC9A5', 'score': 550.77}, {'connected_gene': 'ATP6V0D1', 'score': 15.27}, {'connected_gene': 'MIR328', 'score': 11.96}, {'connected_gene': 'ELMO3', 'score': 11.94}, {'connected_gene': 'LRRC36', 'score': 9.93}, {'connected_gene': 'HSD11B2', 'score': 9.18}, {'connected_gene': 'PARD6A', 'score': 8.91}, {'connected_gene': 'ACD', 'score': 8.91}, {'connected_gene': 'TMEM208', 'score': 0.44}, {'connected_gene': 'FHOD1', 'score': 0.39}]
chr16	GH16I067239	67239592	67249876	2.61	[{'connected_gene': 'SLC9A5', 'score': 550.44}, {'connected_gene': 'ATP6V0D1', 'score': 22.38}, {'connected_gene': 'FHOD1', 'score': 13.44}, {'connected_gene': 'ELMO3', 'score': 12.3}, {'connected_gene': 'NAE1', 'score': 11.28}, {'connected_gene': 'CENPT', 'score': 10.84}, {'connected_gene': 'EDC4', 'score': 10.77}, {'connected_gene': 'LRRC36', 'score': 9.47}, {'connected_gene': 'DPEP2', 'score': 7.83}, {'connected_gene': 'C16orf70', 'score': 7.75}, {'connected_gene': 'RIPOR1', 'score': 6.37}, {'connected_gene': 'LRRC29', 'score': 6.35}, {'connected_gene': 'ACD', 'score': 5.54}, {'connected_gene': 'KIAA0895L', 'score': 4.84}, {'connected_gene': 'RRAD', 'score': 2.33}, {'connected_gene': 'PLEKHG4', 'score': 1.6}]
chr16	GH16I067182	67182774	67188059	2.08	[{'connected_gene': 'KIAA0895L', 'score': 550.77}, {'connected_gene': 'E2F4', 'score': 22.53}, {'connected_gene': 'NFATC3', 'score': 21.7}, {'connected_gene': 'EDC4', 'score': 21.59}, {'connected_gene': 'ENSG00000260465', 'score': 15.3}, {'connected_gene': 'ELMO3', 'score': 12.48}, {'connected_gene': 'ENSG00000270165', 'score': 11.63}, {'connected_gene': 'RANBP10', 'score': 10.82}, {'connected_gene': 'CTCF', 'score': 9.89}, {'connected_gene': 'FHOD1', 'score': 5.18}, {'connected_gene': 'HSD11B2', 'score': 4.09}, {'connected_gene': 'LRRC36', 'score': 4.05}, {'connected_gene': 'EXOC3L1', 'score': 0.77}]
chr16	GH16I066924	66924769	66929174	2.38	[{'connected_gene': 'RRAD', 'score': 558.09}, {'connected_gene': 'LRRC29', 'score': 5.52}, {'connected_gene': 'ACD', 'score': 4.29}, {'connected_gene': 'PLEKHG4', 'score': 3.55}, {'connected_gene': 'CBFB', 'score': 2.06}, {'connected_gene': 'FHOD1', 'score': 2.01}, {'connected_gene': 'FAM96B', 'score': 0.44}]
chr16	GH16I067950	67950664	67952957	0.38	[{'connected_gene': 'PRMT7', 'score': 11.84}, {'connected_gene': 'DUS2', 'score': 11.35}, {'connected_gene': 'RANBP10', 'score': 10.11}, {'connected_gene': 'FHOD1', 'score': 6.62}, {'connected_gene': 'GC16M067943', 'score': 0.44}, {'connected_gene': 'SLC12A4', 'score': 0.37}]
chr16	GH16I067389	67389216	67400723	2.34	[{'connected_gene': 'TPPP3', 'score': 550.77}, {'connected_gene': 'LRRC36', 'score': 17.05}, {'connected_gene': 'ATP6V0D1', 'score': 14.92}, {'connected_gene': 'FHOD1', 'score': 11.41}, {'connected_gene': 'ZDHHC1', 'score': 11.33}, {'connected_gene': 'HSD11B2', 'score': 11.08}, {'connected_gene': 'PLEKHG4', 'score': 10.78}, {'connected_gene': 'ENSG00000260465', 'score': 5.65}, {'connected_gene': 'PRMT7', 'score': 5.27}, {'connected_gene': 'RNU1-123P', 'score': 0.77}]
chr16	GH16I068077	68077704	68093658	2.8	[{'connected_gene': 'NFATC3', 'score': 560.39}, {'connected_gene': 'GC16M068083', 'score': 550.77}, {'connected_gene': 'PRMT7', 'score': 23.44}, {'connected_gene': 'CTCF', 'score': 20.8}, {'connected_gene': 'EDC4', 'score': 20.32}, {'connected_gene': 'TRADD', 'score': 18.05}, {'connected_gene': 'ZDHHC1', 'score': 17.91}, {'connected_gene': 'DPEP2', 'score': 15.43}, {'connected_gene': 'DUS2', 'score': 13.4}, {'connected_gene': 'E2F4', 'score': 11.72}, {'connected_gene': 'SLC7A6OS', 'score': 11.19}, {'connected_gene': 'ENSG00000212445', 'score': 10.78}, {'connected_gene': 'PLEKHG4', 'score': 10.68}, {'connected_gene': 'SLC7A6', 'score': 10.47}, {'connected_gene': 'DPEP3', 'score': 10.11}, {'connected_gene': 'ENKD1', 'score': 10.04}, {'connected_gene': 'CENPT', 'score': 10.04}, {'connected_gene': 'THAP11', 'score': 9.94}, {'connected_gene': 'PSKH1', 'score': 9.92}, {'connected_gene': 'PARD6A', 'score': 9.74}, {'connected_gene': 'ACD', 'score': 9.74}, {'connected_gene': 'TSNAXIP1', 'score': 5.71}, {'connected_gene': 'FHOD1', 'score': 4.86}, {'connected_gene': 'RANBP10', 'score': 3.91}, {'connected_gene': 'PSMB10', 'score': 3.3}, {'connected_gene': 'CARMIL2', 'score': 1.27}, {'connected_gene': 'ENSG00000201850', 'score': 0.77}, {'connected_gene': 'GC16M068090', 'score': 0.77}, {'connected_gene': 'ENSG00000261864', 'score': 0.44}]
chr16	GH16I067454	67454610	67455940	0.38	[{'connected_gene': 'HSD11B2', 'score': 12.37}, {'connected_gene': 'ATP6V0D1', 'score': 12.18}, {'connected_gene': 'ZDHHC1', 'score': 11.64}, {'connected_gene': 'FHOD1', 'score': 5.72}, {'connected_gene': 'DUS2', 'score': 4.43}, {'connected_gene': 'GC16M067447', 'score': 0.44}, {'connected_gene': 'GC16M067470', 'score': 0.37}]
chr16	GH16I067413	67413092	67417067	2.31	[{'connected_gene': 'ZDHHC1', 'score': 550.77}, {'connected_gene': 'PRMT7', 'score': 19.39}, {'connected_gene': 'ATP6V0D1', 'score': 17.89}, {'connected_gene': 'LRRC36', 'score': 17.05}, {'connected_gene': 'FHOD1', 'score': 11.25}, {'connected_gene': 'PLEKHG4', 'score': 10.82}, {'connected_gene': 'TMEM208', 'score': 9.72}, {'connected_gene': 'LRRC29', 'score': 9.72}, {'connected_gene': 'HSD11B2', 'score': 8.71}, {'connected_gene': 'DPEP2', 'score': 7.35}, {'connected_gene': 'TPPP3', 'score': 0.34}]
chr16	GH16I067417	67417668	67417963	0.48	[{'connected_gene': 'ZDHHC1', 'score': 550.77}, {'connected_gene': 'PLEKHG4', 'score': 3.7}, {'connected_gene': 'RRAD', 'score': 2.93}, {'connected_gene': 'RIPOR1', 'score': 1.73}, {'connected_gene': 'CBFB', 'score': 1.67}, {'connected_gene': 'FHOD1', 'score': 1.55}, {'connected_gene': 'HSD11B2', 'score': 0.39}]
chr16	GH16I067255	67255048	67260185	0.57	[{'connected_gene': 'TMEM208', 'score': 11.36}, {'connected_gene': 'LRRC29', 'score': 11.36}, {'connected_gene': 'EXOC3L1', 'score': 11.09}, {'connected_gene': 'E2F4', 'score': 11.09}, {'connected_gene': 'KIAA0895L', 'score': 11.08}, {'connected_gene': 'HSD11B2', 'score': 10.62}, {'connected_gene': 'ZDHHC1', 'score': 10.3}, {'connected_gene': 'LRRC36', 'score': 10.22}, {'connected_gene': 'ELMO3', 'score': 8.63}, {'connected_gene': 'ENSG00000260465', 'score': 5.65}, {'connected_gene': 'ATP6V0D1', 'score': 4.98}, {'connected_gene': 'FHOD1', 'score': 4.71}, {'connected_gene': 'ENSG00000262691', 'score': 0.77}, {'connected_gene': 'SLC9A5', 'score': 0.37}]
chr16	GH16I067570	67570903	67572963	0.43	[{'connected_gene': 'PIR49197', 'score': 550.77}, {'connected_gene': 'ATP6V0D1', 'score': 15.63}, {'connected_gene': 'ENSG00000237718', 'score': 11.83}, {'connected_gene': 'CARMIL2', 'score': 11.64}, {'connected_gene': 'PARD6A', 'score': 11.21}, {'connected_gene': 'ACD', 'score': 11.21}, {'connected_gene': 'RIPOR1', 'score': 11.18}, {'connected_gene': 'C16orf86', 'score': 10.81}, {'connected_gene': 'ENKD1', 'score': 10.81}, {'connected_gene': 'ZDHHC1', 'score': 9.49}, {'connected_gene': 'HSD11B2', 'score': 9.22}, {'connected_gene': 'ELMO3', 'score': 8.12}, {'connected_gene': 'PRMT7', 'score': 4.61}, {'connected_gene': 'FHOD1', 'score': 4.35}, {'connected_gene': 'CTCF', 'score': 0.44}, {'connected_gene': 'GC16M067600', 'score': 0.31}]
chr16	GH16I068021	68021594	68024615	2.08	[{'connected_gene': 'GC16M068022', 'score': 550.77}, {'connected_gene': 'PIR37774', 'score': 550.77}, {'connected_gene': 'DDX28', 'score': 550.77}, {'connected_gene': 'DUS2', 'score': 550.28}, {'connected_gene': 'EDC4', 'score': 11.76}, {'connected_gene': 'NFATC3', 'score': 10.76}, {'connected_gene': 'CTCF', 'score': 10.54}, {'connected_gene': 'PRMT7', 'score': 10.33}, {'connected_gene': 'CENPT', 'score': 10.1}, {'connected_gene': 'FHOD1', 'score': 8.03}]
chr16	GH16I067260	67260468	67261233	0.95	[{'connected_gene': 'ENSG00000262691', 'score': 550.77}, {'connected_gene': 'TMEM208', 'score': 11.01}, {'connected_gene': 'LRRC29', 'score': 11.01}, {'connected_gene': 'HSD11B2', 'score': 10.62}, {'connected_gene': 'ZDHHC1', 'score': 10.26}, {'connected_gene': 'FHOD1', 'score': 0.39}, {'connected_gene': 'SLC9A5', 'score': 0.34}]