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
ENST00000361804	[[112327448, 112327589], [112328695, 112328771], [112333464, 112333503], [112335093, 112335161], [112337178, 112337250], [112337592, 112337672], [112338385, 112338464], [112340661, 112340779], [112341680, 112341856], [112342319, 112342400], [112343141, 112343306], [112343598, 112343720], [112343940, 112344154], [112349362, 112349466], [112349649, 112349749], [112350169, 112350330], [112350748, 112350890], [112352830, 112352981], [112356155, 112356308], [112357896, 112358048], [112359411, 112359570], [112360196, 112360304], [112360779, 112360888], [112361394, 112361642], [112361723, 112361936], [112362231, 112362423], [112362582, 112362760], [112362941, 112363048], [112363988, 112364394]]	[[112327574, 112327589], [112328695, 112328771], [112333464, 112333503], [112335093, 112335161], [112337178, 112337250], [112337592, 112337672], [112338385, 112338464], [112340661, 112340779], [112341680, 112341856], [112342319, 112342400], [112343141, 112343306], [112343598, 112343720], [112343940, 112344154], [112349362, 112349466], [112349649, 112349749], [112350169, 112350330], [112350748, 112350890], [112352830, 112352981], [112356155, 112356308], [112357896, 112358048], [112359411, 112359570], [112360196, 112360304], [112360779, 112360888], [112361394, 112361642], [112361723, 112361936], [112362231, 112362423], [112362582, 112362760], [112362941, 112363048], [112363988, 112364060]]
ENST00000462899	[[112328084, 112328245], [112328695, 112328771], [112333464, 112333503], [112335093, 112335161], [112337178, 112337250], [112337592, 112337672], [112338385, 112338464], [112340661, 112340779], [112341680, 112341764]]	None
NM_005445	[[112327448, 112327589], [112328695, 112328771], [112333464, 112333503], [112335093, 112335161], [112337178, 112337250], [112337592, 112337672], [112338385, 112338464], [112340661, 112340779], [112341680, 112341856], [112342319, 112342400], [112343141, 112343306], [112343598, 112343720], [112343940, 112344154], [112349362, 112349466], [112349649, 112349749], [112350169, 112350330], [112350748, 112350890], [112352830, 112352981], [112356155, 112356308], [112357896, 112358048], [112359411, 112359570], [112360196, 112360304], [112360779, 112360888], [112361394, 112361642], [112361723, 112361936], [112362231, 112362423], [112362582, 112362760], [112362941, 112363048], [112363988, 112364392]]	[[112327574, 112327589], [112328695, 112328771], [112333464, 112333503], [112335093, 112335161], [112337178, 112337250], [112337592, 112337672], [112338385, 112338464], [112340661, 112340779], [112341680, 112341856], [112342319, 112342400], [112343141, 112343306], [112343598, 112343720], [112343940, 112344154], [112349362, 112349466], [112349649, 112349749], [112350169, 112350330], [112350748, 112350890], [112352830, 112352981], [112356155, 112356308], [112357896, 112358048], [112359411, 112359570], [112360196, 112360304], [112360779, 112360888], [112361394, 112361642], [112361723, 112361936], [112362231, 112362423], [112362582, 112362760], [112362941, 112363048], [112363988, 112364060]]

Promoter

Chrom	Start	End	Description
chr10	112327425	112327516	CAGE_peak_1_at_SMC3_5end
chr10	112327528	112327539	CAGE_peak_2_at_SMC3_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr10	GH10I110915	110915855	110921753	2.31	[{'connected_gene': 'BBIP1', 'score': 568.21}, {'connected_gene': 'SHOC2', 'score': 550.77}, {'connected_gene': 'SMC3', 'score': 27.58}, {'connected_gene': 'SMNDC1', 'score': 21.11}, {'connected_gene': 'XPNPEP1', 'score': 19.23}, {'connected_gene': 'ENSG00000270589', 'score': 15.54}, {'connected_gene': 'ADRA2A', 'score': 5.7}, {'connected_gene': 'PDCD4', 'score': 5.64}]
chr10	GH10I110658	110658006	110659785	0.59	[{'connected_gene': 'SMC3', 'score': 15.96}, {'connected_gene': 'XPNPEP1', 'score': 10.3}, {'connected_gene': 'RBM20', 'score': 0.39}, {'connected_gene': 'GC10P110732', 'score': 0.19}]
chr10	GH10I110649	110649391	110650935	0.79	[{'connected_gene': 'SMC3', 'score': 56.88}, {'connected_gene': 'XPNPEP1', 'score': 22.24}, {'connected_gene': 'ADRA2A', 'score': 19.52}, {'connected_gene': 'SMNDC1', 'score': 14.39}, {'connected_gene': 'BBIP1', 'score': 10.91}, {'connected_gene': 'ENSG00000270589', 'score': 10.33}, {'connected_gene': 'RBM20', 'score': 5.05}, {'connected_gene': 'GC10P110732', 'score': 0.18}]
chr10	GH10I110065	110065994	110071994	1.36	[{'connected_gene': 'SMC3', 'score': 16.95}, {'connected_gene': 'XPNPEP1', 'score': 13.8}, {'connected_gene': 'ADD3', 'score': 11.12}, {'connected_gene': 'ENSG00000270589', 'score': 10.29}, {'connected_gene': 'GC10M110016', 'score': 0.23}, {'connected_gene': 'GC10M110015', 'score': 0.23}, {'connected_gene': 'SNRPGP12', 'score': 0.19}]
chr10	GH10I110700	110700345	110702503	0.77	[{'connected_gene': 'SMC3', 'score': 4.85}, {'connected_gene': 'GC10P110732', 'score': 0.29}, {'connected_gene': 'RBM20', 'score': 0.22}]
chr10	GH10I110085	110085095	110087756	1.34	[{'connected_gene': 'SMC3', 'score': 11.67}, {'connected_gene': 'ADD3', 'score': 11.67}, {'connected_gene': 'BBIP1', 'score': 10.87}, {'connected_gene': 'SNRPGP12', 'score': 0.23}, {'connected_gene': 'GC10M110016', 'score': 0.19}, {'connected_gene': 'GC10M110015', 'score': 0.19}]
chr10	GH10I110566	110566002	110570525	2.1	[{'connected_gene': 'SMC3', 'score': 562.03}, {'connected_gene': 'LOC105378483', 'score': 550.77}, {'connected_gene': 'SMNDC1', 'score': 37.57}, {'connected_gene': 'XPNPEP1', 'score': 20.07}, {'connected_gene': 'ENSG00000270589', 'score': 11.29}, {'connected_gene': 'RBM20', 'score': 4.92}, {'connected_gene': 'GC10M110607', 'score': 0.28}]
chr10	GH10I110507	110507897	110509864	0.76	[{'connected_gene': 'SMC3', 'score': 13.31}, {'connected_gene': 'SMNDC1', 'score': 13.0}, {'connected_gene': 'ENSG00000270589', 'score': 11.04}, {'connected_gene': 'XPNPEP1', 'score': 10.33}, {'connected_gene': 'DUSP5', 'score': 0.39}, {'connected_gene': 'GC10P110525', 'score': 0.37}]
chr10	GH10I109956	109956783	109957032	0.78	[{'connected_gene': 'XPNPEP1', 'score': 21.36}, {'connected_gene': 'SMC3', 'score': 15.98}, {'connected_gene': 'ADD3', 'score': 15.22}, {'connected_gene': 'SMNDC1', 'score': 11.82}, {'connected_gene': 'RNU4-5P', 'score': 10.43}, {'connected_gene': 'ADD3-AS1', 'score': 0.23}]
chr10	GH10I110832	110832810	110847822	1.69	[{'connected_gene': 'RBM20', 'score': 14.77}, {'connected_gene': 'PDCD4', 'score': 14.21}, {'connected_gene': 'PDCD4-AS1', 'score': 12.28}, {'connected_gene': 'ENSG00000232470', 'score': 12.19}, {'connected_gene': 'SHOC2', 'score': 5.29}, {'connected_gene': 'SMC3', 'score': 1.26}, {'connected_gene': 'RNA5SP327', 'score': 0.18}, {'connected_gene': 'GC10P110732', 'score': 0.14}]
chr10	GH10I110818	110818202	110825280	1.41	[{'connected_gene': 'PDCD4', 'score': 20.65}, {'connected_gene': 'SMC3', 'score': 15.48}, {'connected_gene': 'PDCD4-AS1', 'score': 12.23}, {'connected_gene': 'ENSG00000232470', 'score': 11.66}, {'connected_gene': 'XPNPEP1', 'score': 10.3}, {'connected_gene': 'RBM20', 'score': 9.47}, {'connected_gene': 'ADRA2A', 'score': 2.74}, {'connected_gene': 'RNA5SP327', 'score': 0.21}, {'connected_gene': 'GC10P110732', 'score': 0.17}]
chr10	GH10I110802	110802105	110805375	1.62	[{'connected_gene': 'PDCD4', 'score': 15.72}, {'connected_gene': 'ENSG00000232470', 'score': 11.61}, {'connected_gene': 'SMC3', 'score': 9.71}, {'connected_gene': 'RBM20', 'score': 5.5}, {'connected_gene': 'RNA5SP327', 'score': 0.26}, {'connected_gene': 'GC10P110732', 'score': 0.19}]
chr10	GH10I110857	110857171	110875168	2.84	[{'connected_gene': 'PDCD4', 'score': 560.9}, {'connected_gene': 'SHOC2', 'score': 22.11}, {'connected_gene': 'SMC3', 'score': 10.6}, {'connected_gene': 'BBIP1', 'score': 8.39}, {'connected_gene': 'ADRA2A', 'score': 5.97}, {'connected_gene': 'ENSG00000270589', 'score': 4.6}, {'connected_gene': 'DUSP5', 'score': 1.95}, {'connected_gene': 'ENSG00000232470', 'score': 0.77}, {'connected_gene': 'PDCD4-AS1', 'score': 0.44}, {'connected_gene': 'RNA5SP327', 'score': 0.14}, {'connected_gene': 'GC10P110732', 'score': 0.12}]
chr10	GH10I110495	110495540	110506279	2.57	[{'connected_gene': 'DUSP5', 'score': 556.51}, {'connected_gene': 'SMC3', 'score': 16.01}, {'connected_gene': 'XPNPEP1', 'score': 10.3}, {'connected_gene': 'MXI1', 'score': 3.58}, {'connected_gene': 'BBIP1', 'score': 2.72}, {'connected_gene': 'SHOC2', 'score': 2.35}, {'connected_gene': 'PDCD4', 'score': 1.67}, {'connected_gene': 'ENSG00000273143', 'score': 0.77}, {'connected_gene': 'GC10P110525', 'score': 0.34}]
chr10	GH10I110455	110455223	110461660	1.53	[{'connected_gene': 'DUSP5', 'score': 1.59}, {'connected_gene': 'SMC3', 'score': 1.45}, {'connected_gene': 'LOC105378482', 'score': 0.77}, {'connected_gene': 'HMGB3P5', 'score': 0.44}, {'connected_gene': 'ENSG00000273143', 'score': 0.28}]
chr10	GH10I110406	110406813	110416630	1.69	[{'connected_gene': 'DUSP5', 'score': 15.69}, {'connected_gene': 'SMNDC1', 'score': 10.81}, {'connected_gene': 'SMC3', 'score': 1.33}, {'connected_gene': 'HMGB3P5', 'score': 0.28}, {'connected_gene': 'GC10P110318', 'score': 0.16}]
chr10	GH10I111076	111076183	111078198	1.89	[{'connected_gene': 'ADRA2A', 'score': 554.99}, {'connected_gene': 'PIR58551', 'score': 550.77}, {'connected_gene': 'GC10P111079', 'score': 550.77}, {'connected_gene': 'PIR36818', 'score': 550.77}, {'connected_gene': 'SMC3', 'score': 23.18}, {'connected_gene': 'SMNDC1', 'score': 15.39}, {'connected_gene': 'BBIP1', 'score': 10.95}]
chr10	GH10I109992	109992103	109999460	1.25	[{'connected_gene': 'ADD3', 'score': 564.6}, {'connected_gene': 'SMC3', 'score': 18.33}, {'connected_gene': 'XPNPEP1', 'score': 15.34}, {'connected_gene': 'BBIP1', 'score': 10.37}, {'connected_gene': 'ADD3-AS1', 'score': 0.39}]
chr10	GH10I110651	110651163	110652045	1.14	[{'connected_gene': 'SMNDC1', 'score': 15.42}, {'connected_gene': 'SMC3', 'score': 13.46}, {'connected_gene': 'RBM20', 'score': 5.06}, {'connected_gene': 'GC10P110732', 'score': 0.18}]
chr10	GH10I110416	110416806	110418042	0.96	[{'connected_gene': 'SMNDC1', 'score': 12.97}, {'connected_gene': 'XPNPEP1', 'score': 12.05}, {'connected_gene': 'SMC3', 'score': 11.49}, {'connected_gene': 'PDCD4-AS1', 'score': 10.41}, {'connected_gene': 'HMGB3P5', 'score': 0.29}, {'connected_gene': 'GC10P110318', 'score': 0.15}]
chr10	GH10I110664	110664715	110665772	1.35	[{'connected_gene': 'SMNDC1', 'score': 24.04}, {'connected_gene': 'XPNPEP1', 'score': 21.8}, {'connected_gene': 'SMC3', 'score': 17.06}, {'connected_gene': 'RBM20', 'score': 12.73}, {'connected_gene': 'ENSG00000223302', 'score': 12.73}, {'connected_gene': 'ADRA2A', 'score': 11.41}, {'connected_gene': 'ENSG00000270589', 'score': 10.33}, {'connected_gene': 'GC10P110732', 'score': 0.2}]
chr10	GH10I110600	110600603	110600752	0.62	[{'connected_gene': 'SMNDC1', 'score': 11.51}, {'connected_gene': 'RBM20', 'score': 11.35}, {'connected_gene': 'ENSG00000223302', 'score': 11.35}, {'connected_gene': 'GC10M110607', 'score': 0.44}, {'connected_gene': 'SMC3', 'score': 0.29}]
chr10	GH10I110641	110641363	110641711	1.28	[{'connected_gene': 'ENSG00000223302', 'score': 550.77}, {'connected_gene': 'RBM20', 'score': 13.15}, {'connected_gene': 'SMC3', 'score': 1.52}, {'connected_gene': 'GC10M110633', 'score': 0.44}]