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
ENST00000448814	[[112658487, 112660284], [112661295, 112661370], [112677878, 112677971], [112678878, 112679032]]	[[112660117, 112660284], [112661295, 112661370], [112677878, 112677915]]
ENST00000447005	[[112659713, 112660284], [112661295, 112661370], [112678878, 112678959]]	[[112660117, 112660284], [112661295, 112661341]]
ENST00000454061	[[112659878, 112660284], [112661295, 112661370], [112667437, 112667594], [112677878, 112677971], [112678878, 112678959]]	[[112660241, 112660284], [112661295, 112661370], [112667437, 112667594], [112677878, 112677915]]
ENST00000423273	[[112659922, 112660284], [112677878, 112677971], [112678878, 112678915]]	[[112660117, 112660284], [112677878, 112677915]]
ENST00000605742	[[112659975, 112660284], [112661295, 112661370], [112677878, 112677971], [112678602, 112678694]]	[[112660117, 112660284], [112661295, 112661370], [112677878, 112677915]]
ENST00000436562	[[112659986, 112660284], [112661295, 112661343], [112678878, 112678915]]	[[112660117, 112660284], [112661295, 112661341]]
ENST00000605265	[[112659991, 112664703]]	None
ENST00000398289	[[112659995, 112660284], [112660783, 112660880], [112661295, 112661370], [112677878, 112677971], [112678878, 112678940]]	[[112660854, 112660880], [112661295, 112661370], [112677878, 112677915]]
ENST00000422050	[[112666236, 112667594], [112677878, 112677971], [112678878, 112678925]]	None
ENST00000431847	[[112677716, 112677971], [112678878, 112678919]]	None
NM_001195306	[[112658487, 112660284], [112661295, 112661370], [112677878, 112677971], [112678602, 112678694]]	[[112660117, 112660284], [112661295, 112661370], [112677878, 112677915]]
NM_001195304	[[112658487, 112660284], [112661295, 112661370], [112667437, 112667594], [112677878, 112677971], [112678878, 112679124]]	[[112660241, 112660284], [112661295, 112661370], [112667437, 112667594], [112677878, 112677915]]
NM_001195305	[[112658487, 112660284], [112661295, 112661370], [112677878, 112677971], [112678878, 112679124]]	[[112660117, 112660284], [112661295, 112661370], [112677878, 112677915]]
NM_001195307	[[112658487, 112660284], [112677878, 112677971], [112678878, 112679124]]	[[112660117, 112660284], [112677878, 112677915]]
NM_001243783	[[112658487, 112660284], [112661295, 112661370], [112678878, 112679124]]	[[112660117, 112660284], [112661295, 112661341]]

Promoter

Chrom	Start	End	Description
chr10	112678692	112678695	CAGE_peak_4_at_BBIP1_5end
chr10	112678904	112678964	CAGE_peak_1_at_BBIP1_5end
chr10	112678976	112678989	CAGE_peak_3_at_BBIP1_5end
chr10	112679118	112679129	CAGE_peak_2_at_BBIP1_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	GH10I110883	110883647	110884448	0.96	[{'connected_gene': 'BBIP1', 'score': 15.47}, {'connected_gene': 'SHOC2', 'score': 11.34}, {'connected_gene': 'MIR4680', 'score': 0.39}, {'connected_gene': 'PDCD4-AS1', 'score': 0.39}, {'connected_gene': 'PDCD4', 'score': 0.39}, {'connected_gene': 'GC10P110732', 'score': 0.1}]
chr10	GH10I110555	110555564	110557664	0.63	[{'connected_gene': 'BBIP1', 'score': 11.5}, {'connected_gene': 'DUSP5', 'score': 5.35}, {'connected_gene': 'RPL7P35', 'score': 0.44}, {'connected_gene': 'LOC105378483', 'score': 0.39}]
chr10	GH10I110629	110629483	110630709	1.27	[{'connected_gene': 'BBIP1', 'score': 11.44}, {'connected_gene': 'GC10M110633', 'score': 0.77}, {'connected_gene': 'GC10M110607', 'score': 0.34}]
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	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	GH10I110884	110884737	110887074	0.73	[{'connected_gene': 'SHOC2', 'score': 11.35}, {'connected_gene': 'BBIP1', 'score': 11.35}, {'connected_gene': 'ENSG00000270589', 'score': 4.98}, {'connected_gene': 'ADRA2A', 'score': 4.12}, {'connected_gene': 'PDCD4-AS1', 'score': 0.39}, {'connected_gene': 'MIR4680', 'score': 0.39}, {'connected_gene': 'PDCD4', 'score': 0.39}, {'connected_gene': 'GC10P110732', 'score': 0.1}]
chr10	GH10I110992	110992451	110993852	0.74	[{'connected_gene': 'SHOC2', 'score': 11.28}, {'connected_gene': 'BBIP1', 'score': 11.28}, {'connected_gene': 'ADRA2A', 'score': 10.15}, {'connected_gene': 'PDCD4', 'score': 10.08}, {'connected_gene': 'ENSG00000232470', 'score': 10.08}, {'connected_gene': 'MIR548E', 'score': 0.77}, {'connected_gene': 'GC10P111035', 'score': 0.26}]
chr10	GH10I110972	110972601	110972800	0.2	[{'connected_gene': 'SHOC2', 'score': 11.34}, {'connected_gene': 'BBIP1', 'score': 11.34}, {'connected_gene': 'ADRA2A', 'score': 10.13}, {'connected_gene': 'MIR548E', 'score': 0.37}, {'connected_gene': 'RPL13AP6', 'score': 0.28}]
chr10	GH10I111102	111102888	111104252	0.31	[{'connected_gene': 'LOC724065', 'score': 550.77}, {'connected_gene': 'GC10P111105', 'score': 550.77}, {'connected_gene': 'ADRA2A', 'score': 12.04}, {'connected_gene': 'BBIP1', 'score': 11.93}, {'connected_gene': 'ENSG00000270589', 'score': 4.22}, {'connected_gene': 'PIR58551', 'score': 0.31}]
chr10	GH10I110220	110220642	110223407	2.2	[{'connected_gene': 'MXI1', 'score': 590.78}, {'connected_gene': 'LOC105378480', 'score': 550.77}, {'connected_gene': 'SMNDC1', 'score': 10.88}, {'connected_gene': 'BBIP1', 'score': 5.67}, {'connected_gene': 'ADD3', 'score': 5.21}, {'connected_gene': 'ENSG00000228417', 'score': 0.39}]
chr10	GH10I110225	110225130	110228001	2.21	[{'connected_gene': 'MXI1', 'score': 564.07}, {'connected_gene': 'PIR57221', 'score': 550.77}, {'connected_gene': 'SMNDC1', 'score': 10.89}, {'connected_gene': 'BBIP1', 'score': 5.68}, {'connected_gene': 'ENSG00000214067', 'score': 0.29}]
chr10	GH10I110269	110268983	110270644	1.25	[{'connected_gene': 'MXI1', 'score': 17.76}, {'connected_gene': 'ENSG00000228417', 'score': 11.66}, {'connected_gene': 'SMNDC1', 'score': 11.49}, {'connected_gene': 'BBIP1', 'score': 10.64}, {'connected_gene': 'ENSG00000214067', 'score': 0.39}]
chr10	GH10I110689	110689047	110689752	0.43	[{'connected_gene': 'RBM20', 'score': 12.56}, {'connected_gene': 'ENSG00000223302', 'score': 12.56}, {'connected_gene': 'BBIP1', 'score': 11.45}, {'connected_gene': 'GC10P110732', 'score': 0.26}]
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	GH10I110901	110901750	110903894	0.82	[{'connected_gene': 'PDCD4', 'score': 11.44}, {'connected_gene': 'ENSG00000232470', 'score': 11.44}, {'connected_gene': 'ENSG00000270589', 'score': 4.8}, {'connected_gene': 'MIR4680', 'score': 0.77}, {'connected_gene': 'GC10M110900', 'score': 0.77}, {'connected_gene': 'BBIP1', 'score': 0.37}, {'connected_gene': 'GC10P110732', 'score': 0.09}]
chr10	GH10I110424	110424811	110427736	1.56	[{'connected_gene': 'DUSP5', 'score': 6.76}, {'connected_gene': 'BBIP1', 'score': 3.08}, {'connected_gene': 'SHOC2', 'score': 2.62}, {'connected_gene': 'HMGB3P5', 'score': 0.34}, {'connected_gene': 'GC10P110318', 'score': 0.14}]
chr10	GH10I110423	110423602	110424400	1.25	[{'connected_gene': 'DUSP5', 'score': 3.77}, {'connected_gene': 'BBIP1', 'score': 2.53}, {'connected_gene': 'SHOC2', 'score': 1.85}, {'connected_gene': 'HMGB3P5', 'score': 0.31}, {'connected_gene': 'GC10P110318', 'score': 0.14}]
chr10	GH10I110511	110511083	110514112	1.55	[{'connected_gene': 'DUSP5', 'score': 6.57}, {'connected_gene': 'BBIP1', 'score': 3.11}, {'connected_gene': 'SHOC2', 'score': 2.87}, {'connected_gene': 'GC10P110525', 'score': 0.39}]
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	GH10I110535	110535801	110536999	1.51	[{'connected_gene': 'DUSP5', 'score': 17.24}, {'connected_gene': 'SHOC2', 'score': 1.95}, {'connected_gene': 'BBIP1', 'score': 1.37}, {'connected_gene': 'GC10M110551', 'score': 0.39}, {'connected_gene': 'GC10P110525', 'score': 0.39}]
chr10	GH10I111136	111136276	111138080	0.54	[{'connected_gene': 'ADRA2A', 'score': 11.72}, {'connected_gene': 'BBIP1', 'score': 4.55}, {'connected_gene': 'GC10P111105', 'score': 0.29}, {'connected_gene': 'BTBD7P2', 'score': 0.09}]
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	GH10I110889	110889340	110890813	0.31	[{'connected_gene': 'ENSG00000232470', 'score': 11.04}, {'connected_gene': 'BBIP1', 'score': 5.68}, {'connected_gene': 'MIR4680', 'score': 0.44}, {'connected_gene': 'PDCD4-AS1', 'score': 0.37}, {'connected_gene': 'PDCD4', 'score': 0.37}, {'connected_gene': 'GC10P110732', 'score': 0.1}]
chr10	GH10I110911	110911092	110911151	0.5	[{'connected_gene': 'ENSG00000270589', 'score': 550.77}, {'connected_gene': 'BBIP1', 'score': 550.44}]
chr10	GH10I110909	110909103	110909479	0.24	[{'connected_gene': 'ENSG00000278601', 'score': 550.77}, {'connected_gene': 'ENSG00000270589', 'score': 550.77}, {'connected_gene': 'SHOC2', 'score': 9.77}, {'connected_gene': 'PDCD4', 'score': 2.67}, {'connected_gene': 'BBIP1', 'score': 2.28}]
chr10	GH10I110912	110911970	110912947	0.49	[{'connected_gene': 'ENSG00000270589', 'score': 550.77}, {'connected_gene': 'PDCD4', 'score': 10.57}, {'connected_gene': 'ENSG00000232470', 'score': 10.42}, {'connected_gene': 'BBIP1', 'score': 0.44}]