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

Promoter

Chrom	Start	End	Description
chr7	56131942	56132009	CAGE_peak_1_at_SUMF2_5end
chr7	56147976	56147979	CAGE_peak_2_at_SUMF2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr7	GH07I056019	56019559	56020850	0.2	[{'connected_gene': 'PSPHP1', 'score': 22.18}, {'connected_gene': 'SUMF2', 'score': 14.9}, {'connected_gene': 'PHKG1', 'score': 10.88}, {'connected_gene': 'PIR39528', 'score': 0.31}, {'connected_gene': 'PSPH', 'score': 0.29}]
chr7	GH07I055774	55774341	55775577	0.58	[{'connected_gene': 'PSPHP1', 'score': 24.74}, {'connected_gene': 'SUMF2', 'score': 8.62}, {'connected_gene': 'RNU6-1126P', 'score': 0.39}]
chr7	GH07I056049	56049862	56054191	2.07	[{'connected_gene': 'PSPH', 'score': 556.91}, {'connected_gene': 'CCT6A', 'score': 550.77}, {'connected_gene': 'CHCHD2', 'score': 25.86}, {'connected_gene': 'SUMF2', 'score': 21.28}, {'connected_gene': 'NIPSNAP2', 'score': 19.53}, {'connected_gene': 'LOC154937', 'score': 12.1}, {'connected_gene': 'PSPHP1', 'score': 11.8}, {'connected_gene': 'PIR60303', 'score': 0.77}, {'connected_gene': 'GC07P056054', 'score': 0.77}]
chr7	GH07I056031	56031232	56035211	2.2	[{'connected_gene': 'PSPH', 'score': 550.37}, {'connected_gene': 'SUMF2', 'score': 16.52}, {'connected_gene': 'NIPSNAP2', 'score': 8.65}, {'connected_gene': 'PSPHP1', 'score': 5.77}, {'connected_gene': 'ZNF713', 'score': 4.36}, {'connected_gene': 'PIR39528', 'score': 0.26}]
chr7	GH07I055364	55364438	55367844	2.06	[{'connected_gene': 'LANCL2', 'score': 550.77}, {'connected_gene': 'SUMF2', 'score': 14.64}, {'connected_gene': 'LOC100129276', 'score': 8.79}, {'connected_gene': 'PIR45139', 'score': 0.15}]
chr7	GH07I056091	56091499	56093653	1.32	[{'connected_gene': 'PHKG1', 'score': 550.77}, {'connected_gene': 'CHCHD2', 'score': 28.18}, {'connected_gene': 'NIPSNAP2', 'score': 26.9}, {'connected_gene': 'SUMF2', 'score': 21.16}, {'connected_gene': 'MRPS17', 'score': 10.93}, {'connected_gene': 'PSPHP1', 'score': 8.34}]
chr7	GH07I056082	56082708	56082929	0.2	[{'connected_gene': 'CHCHD2', 'score': 15.92}, {'connected_gene': 'MRPS17', 'score': 10.61}, {'connected_gene': 'NIPSNAP2', 'score': 10.61}, {'connected_gene': 'PHKG1', 'score': 0.39}, {'connected_gene': 'SUMF2', 'score': 0.37}]
chr7	GH07I056027	56027709	56030927	0.84	[{'connected_gene': 'CHCHD2', 'score': 25.6}, {'connected_gene': 'SUMF2', 'score': 14.64}, {'connected_gene': 'PHKG1', 'score': 11.52}, {'connected_gene': 'PSPHP1', 'score': 11.46}, {'connected_gene': 'NIPSNAP2', 'score': 9.87}, {'connected_gene': 'ZNF713', 'score': 5.61}, {'connected_gene': 'PSPH', 'score': 0.34}, {'connected_gene': 'PIR39528', 'score': 0.28}]
chr7	GH07I056104	56104955	56108123	2.33	[{'connected_gene': 'CHCHD2', 'score': 579.47}, {'connected_gene': 'SUMF2', 'score': 30.53}, {'connected_gene': 'LOC154937', 'score': 26.4}, {'connected_gene': 'CCT6A', 'score': 13.38}, {'connected_gene': 'NIPSNAP2', 'score': 12.53}, {'connected_gene': 'PSPHP1', 'score': 11.16}, {'connected_gene': 'ZNF713', 'score': 7.74}, {'connected_gene': 'PHKG1', 'score': 0.39}]
chr7	GH07I055886	55886801	55888601	1.87	[{'connected_gene': 'ZNF713', 'score': 564.47}, {'connected_gene': 'ENSG00000249773', 'score': 550.77}, {'connected_gene': 'CHCHD2', 'score': 15.77}, {'connected_gene': 'SUMF2', 'score': 14.38}, {'connected_gene': 'GC07P055892', 'score': 0.44}]
chr7	GH07I055970	55970208	55971898	0.46	[{'connected_gene': 'ZNF713', 'score': 20.35}, {'connected_gene': 'SUMF2', 'score': 15.51}, {'connected_gene': 'NIPSNAP2', 'score': 12.62}, {'connected_gene': 'CHCHD2', 'score': 12.31}, {'connected_gene': 'PHKG1', 'score': 11.07}, {'connected_gene': 'PSPHP1', 'score': 10.14}, {'connected_gene': 'MRPS17', 'score': 0.37}, {'connected_gene': 'PIR39528', 'score': 0.34}]
chr7	GH07I055951	55951248	55952801	2.01	[{'connected_gene': 'NIPSNAP2', 'score': 561.16}, {'connected_gene': 'MRPS17', 'score': 550.77}, {'connected_gene': 'SUMF2', 'score': 16.18}, {'connected_gene': 'CHCHD2', 'score': 15.72}, {'connected_gene': 'ZNF713', 'score': 13.98}, {'connected_gene': 'PIR39528', 'score': 0.26}, {'connected_gene': 'ENSG00000249773', 'score': 0.21}]
chr7	GH07I055999	55999490	56000918	1.07	[{'connected_gene': 'NIPSNAP2', 'score': 23.57}, {'connected_gene': 'CHCHD2', 'score': 12.51}, {'connected_gene': 'PHKG1', 'score': 11.41}, {'connected_gene': 'MRPS17', 'score': 11.28}, {'connected_gene': 'SUMF2', 'score': 5.42}, {'connected_gene': 'PIR39528', 'score': 0.44}, {'connected_gene': 'PSPH', 'score': 0.23}]
chr7	GH07I056074	56074049	56074874	0.88	[{'connected_gene': 'NIPSNAP2', 'score': 18.15}, {'connected_gene': 'ZNF713', 'score': 6.1}, {'connected_gene': 'SUMF2', 'score': 0.39}, {'connected_gene': 'PHKG1', 'score': 0.37}]
chr7	GH07I055963	55963419	55967284	1.95	[{'connected_gene': 'NIPSNAP2', 'score': 562.55}, {'connected_gene': 'ZNF713', 'score': 19.1}, {'connected_gene': 'SUMF2', 'score': 15.01}, {'connected_gene': 'CHCHD2', 'score': 12.46}, {'connected_gene': 'PSPHP1', 'score': 8.35}, {'connected_gene': 'MRPS17', 'score': 0.39}, {'connected_gene': 'PIR39528', 'score': 0.31}]
chr7	GH07I056004	56004330	56011082	1.16	[{'connected_gene': 'NIPSNAP2', 'score': 22.25}, {'connected_gene': 'SUMF2', 'score': 21.39}, {'connected_gene': 'CCT6A', 'score': 12.45}, {'connected_gene': 'PHKG1', 'score': 11.67}, {'connected_gene': 'LOC154937', 'score': 11.38}, {'connected_gene': 'MRPS17', 'score': 11.06}, {'connected_gene': 'PSPHP1', 'score': 11.04}, {'connected_gene': 'ZNF713', 'score': 6.48}, {'connected_gene': 'NUPR2', 'score': 5.42}, {'connected_gene': 'PIR39528', 'score': 0.37}, {'connected_gene': 'PSPH', 'score': 0.26}]
chr7	GH07I056078	56078977	56080833	0.9	[{'connected_gene': 'NIPSNAP2', 'score': 23.2}, {'connected_gene': 'SUMF2', 'score': 19.88}, {'connected_gene': 'CHCHD2', 'score': 15.84}, {'connected_gene': 'PSPHP1', 'score': 12.29}, {'connected_gene': 'MRPS17', 'score': 10.62}, {'connected_gene': 'PHKG1', 'score': 0.39}]
chr7	GH07I056083	56083228	56083973	0.49	[{'connected_gene': 'SUMF2', 'score': 21.31}, {'connected_gene': 'CHCHD2', 'score': 15.92}, {'connected_gene': 'MRPS17', 'score': 10.61}, {'connected_gene': 'NIPSNAP2', 'score': 10.61}, {'connected_gene': 'PHKG1', 'score': 0.44}]
chr7	GH07I056097	56097463	56098205	0.69	[{'connected_gene': 'SUMF2', 'score': 21.14}, {'connected_gene': 'NIPSNAP2', 'score': 12.09}, {'connected_gene': 'PHKG1', 'score': 0.77}, {'connected_gene': 'CHCHD2', 'score': 0.44}]
chr7	GH07I056059	56059583	56065784	2.01	[{'connected_gene': 'SUMF2', 'score': 571.66}, {'connected_gene': 'NIPSNAP2', 'score': 24.79}, {'connected_gene': 'CHCHD2', 'score': 16.34}, {'connected_gene': 'PHKG1', 'score': 11.42}, {'connected_gene': 'PSPHP1', 'score': 11.14}, {'connected_gene': 'MRPS17', 'score': 10.21}, {'connected_gene': 'PSPH', 'score': 6.21}, {'connected_gene': 'SNORA15', 'score': 0.77}, {'connected_gene': 'GC07P056082', 'score': 0.77}, {'connected_gene': 'CCT6A', 'score': 0.39}]
chr7	GH07I055191	55191561	55194086	0.99	[{'connected_gene': 'SUMF2', 'score': 6.11}, {'connected_gene': 'EGFR-AS1', 'score': 0.77}, {'connected_gene': 'GC07P055212', 'score': 0.34}, {'connected_gene': 'EGFR', 'score': 0.09}]
chr7	GH07I056907	56907849	56914033	0.2	[{'connected_gene': 'SUMF2', 'score': 4.35}, {'connected_gene': 'PIR50988', 'score': 0.39}, {'connected_gene': 'LOC100130849', 'score': 0.31}]

Transcript ID	Transcript exon region	Coding exon region
ENST00000395436	[[56131694, 56132071], [56136174, 56136331], [56140689, 56140804], [56142278, 56142429], [56144526, 56144582], [56145794, 56145879], [56146056, 56146201], [56147220, 56147817]]	[[56131947, 56132071], [56136174, 56136331], [56140689, 56140804], [56142278, 56142429], [56144526, 56144582], [56145794, 56145879], [56146056, 56146201], [56147220, 56147305]]
ENST00000275607	[[56131916, 56132071], [56140689, 56140804], [56141866, 56141911], [56142278, 56142429], [56144526, 56144582], [56145794, 56145879], [56146056, 56146201], [56147220, 56148362]]	[[56140729, 56140804], [56141866, 56141911], [56142278, 56142429], [56144526, 56144582], [56145794, 56145879], [56146056, 56146201], [56147220, 56147305]]
ENST00000434526	[[56131916, 56132071], [56136174, 56136331], [56140689, 56140804], [56141866, 56141911], [56142278, 56142429], [56144526, 56144582], [56145794, 56145879], [56146056, 56146201], [56147220, 56148363]]	[[56131947, 56132071], [56136174, 56136331], [56140689, 56140804], [56141866, 56141911], [56142278, 56142429], [56144526, 56144582], [56145794, 56145879], [56146056, 56146201], [56147220, 56147305]]
ENST00000395435	[[56131946, 56132071], [56136174, 56136331], [56140689, 56140804], [56145794, 56145879], [56146056, 56146201], [56147220, 56147880]]	[[56131947, 56132071], [56136174, 56136331], [56140689, 56140804], [56145794, 56145879], [56146056, 56146201], [56147220, 56147305]]
ENST00000413952	[[56131947, 56132071], [56136174, 56136340], [56140689, 56140804], [56141866, 56141911], [56142278, 56142429], [56144526, 56144582], [56145794, 56145879], [56146056, 56146195]]	[[56131947, 56132071], [56136174, 56136340], [56140689, 56140804], [56141866, 56141911], [56142278, 56142429], [56144526, 56144582], [56145794, 56145879], [56146056, 56146195]]
ENST00000342190	[[56131947, 56132071], [56136174, 56136331], [56140689, 56140804], [56141866, 56141911], [56142278, 56142429], [56144526, 56144582], [56145794, 56145879], [56147220, 56148363]]	[[56131947, 56132071], [56136174, 56136331], [56140689, 56140804], [56141866, 56141911], [56142278, 56142429], [56144526, 56144582], [56145794, 56145879], [56147220, 56147564]]
ENST00000452216	[[56131957, 56132071], [56140689, 56140804], [56141866, 56141911], [56142278, 56142429], [56144526, 56144582], [56145794, 56145879], [56146056, 56146201], [56147220, 56147422]]	[[56132004, 56132071], [56140689, 56140778]]
ENST00000436782	[[56131969, 56132071], [56136174, 56136331], [56144526, 56144582], [56145794, 56145879], [56146056, 56146201], [56147220, 56148358]]	[[56132004, 56132071], [56136174, 56136331], [56144526, 56144582], [56145794, 56145823]]
ENST00000437307	[[56131976, 56132071], [56136174, 56136331], [56140689, 56140804], [56141866, 56141911], [56145794, 56145879], [56146056, 56146201], [56147220, 56147525]]	[[56132004, 56132071], [56136174, 56136331], [56140689, 56140804], [56141866, 56141911], [56145794, 56145879], [56146056, 56146201], [56147220, 56147305]]
ENST00000413756	[[56131981, 56132071], [56136174, 56136331], [56140689, 56140804], [56141866, 56141911], [56142278, 56142429], [56144526, 56144582], [56145794, 56145879], [56146056, 56146201], [56146614, 56146732], [56147220, 56147429]]	[[56132004, 56132071], [56136174, 56136331], [56140689, 56140804], [56141866, 56141911], [56142278, 56142429], [56144526, 56144582], [56145794, 56145879], [56146056, 56146201], [56146614, 56146732], [56147220, 56147340]]
ENST00000483327	[[56131993, 56132071], [56136174, 56136331], [56140689, 56141649]]	None
ENST00000423763	[[56131993, 56132071], [56136174, 56136331], [56140689, 56140804], [56141866, 56141911], [56144526, 56144582], [56145794, 56145879], [56146056, 56146201], [56147220, 56148331]]	[[56132004, 56132071], [56136174, 56136331], [56140689, 56140804], [56141866, 56141911], [56144526, 56144582], [56145794, 56145852]]
ENST00000498777	[[56131997, 56132071], [56136174, 56136331], [56140689, 56140804], [56141866, 56142090]]	None
ENST00000438133	[[56132000, 56132071], [56136174, 56136331], [56140689, 56140804], [56144526, 56144582], [56145794, 56145879], [56146056, 56146201], [56147220, 56148362]]	[[56132004, 56132071], [56136174, 56136331], [56140689, 56140804], [56144526, 56144582], [56145794, 56145852]]
ENST00000447501	[[56132002, 56132071], [56136174, 56136331], [56140689, 56140804], [56141866, 56141911], [56142278, 56142332], [56144526, 56144582], [56145794, 56145879], [56146056, 56146201], [56147045, 56147568]]	[[56132004, 56132071], [56136174, 56136331], [56140689, 56140804], [56141866, 56141911], [56142278, 56142332], [56144526, 56144582], [56145794, 56145852]]
ENST00000451338	[[56132013, 56132071], [56136174, 56136331], [56140689, 56140804], [56141806, 56141911], [56142278, 56142429], [56144526, 56144582], [56145794, 56145879], [56146056, 56146201], [56147220, 56147260]]	[[56132013, 56132071], [56136174, 56136331], [56140689, 56140804], [56141806, 56141911], [56142278, 56142429], [56144526, 56144582], [56145794, 56145879], [56146056, 56146201], [56147220, 56147260]]
ENST00000529457	[[56132024, 56132071], [56136174, 56136331], [56140689, 56140804], [56141866, 56141911], [56142278, 56142482]]	None
ENST00000461912	[[56144220, 56144582], [56145794, 56145961]]	None
ENST00000531229	[[56144295, 56144582], [56145794, 56145879], [56146056, 56146201], [56147220, 56147440]]	None
NM_001146333	[[56131916, 56132071], [56140689, 56140804], [56141866, 56141911], [56142278, 56142429], [56144526, 56144582], [56145794, 56145879], [56146056, 56146201], [56147220, 56148365]]	[[56140729, 56140804], [56141866, 56141911], [56142278, 56142429], [56144526, 56144582], [56145794, 56145879], [56146056, 56146201], [56147220, 56147305]]
NM_001042470	[[56131916, 56132071], [56136174, 56136331], [56140689, 56140804], [56145794, 56145879], [56146056, 56146201], [56147220, 56148365]]	[[56131947, 56132071], [56136174, 56136331], [56140689, 56140804], [56145794, 56145879], [56146056, 56146201], [56147220, 56147305]]
NM_001042469	[[56131916, 56132071], [56136174, 56136331], [56140689, 56140804], [56142278, 56142429], [56144526, 56144582], [56145794, 56145879], [56146056, 56146201], [56147220, 56148365]]	[[56131947, 56132071], [56136174, 56136331], [56140689, 56140804], [56142278, 56142429], [56144526, 56144582], [56145794, 56145879], [56146056, 56146201], [56147220, 56147305]]
NM_001130069	[[56131916, 56132071], [56136174, 56136331], [56140689, 56140804], [56141866, 56141911], [56142278, 56142429], [56144526, 56144582], [56145794, 56145879], [56147220, 56148365]]	[[56131947, 56132071], [56136174, 56136331], [56140689, 56140804], [56141866, 56141911], [56142278, 56142429], [56144526, 56144582], [56145794, 56145879], [56147220, 56147564]]
NM_015411	[[56131916, 56132071], [56136174, 56136331], [56140689, 56140804], [56141866, 56141911], [56142278, 56142429], [56144526, 56144582], [56145794, 56145879], [56146056, 56146201], [56147220, 56148365]]	[[56131947, 56132071], [56136174, 56136331], [56140689, 56140804], [56141866, 56141911], [56142278, 56142429], [56144526, 56144582], [56145794, 56145879], [56146056, 56146201], [56147220, 56147305]]