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
ENST00000227638	[[93862093, 93862659], [93886656, 93886796], [93911534, 93911758], [93912767, 93913423], [93913955, 93915138]]	[[93862478, 93862659], [93886656, 93886796], [93911534, 93911758], [93912767, 93913423], [93913955, 93914035]]
ENST00000436171	[[93862094, 93862659], [93886656, 93886796], [93911534, 93911758], [93912767, 93913423], [93913967, 93915132]]	[[93862478, 93862659], [93886656, 93886796], [93911534, 93911758], [93912767, 93913423], [93913967, 93914035]]
NM_015368	[[93862093, 93862659], [93886656, 93886796], [93911534, 93911758], [93912767, 93913423], [93913955, 93915138]]	[[93862478, 93862659], [93886656, 93886796], [93911534, 93911758], [93912767, 93913423], [93913955, 93914035]]

Promoter

Chrom	Start	End	Description
chr11	93861993	93862102	CAGE_peak_1_at_PANX1_5end
chr11	93862107	93862149	CAGE_peak_3_at_PANX1_5end
chr11	93862245	93862344	CAGE_peak_2_at_PANX1_5end
chr11	93862422	93862441	CAGE_peak_4_at_PANX1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr11	GH11I094539	94539160	94540229	0.51	[{'connected_gene': 'MRE11', 'score': 19.09}, {'connected_gene': 'ANKRD49', 'score': 10.33}, {'connected_gene': 'ENSG00000255893', 'score': 9.98}, {'connected_gene': 'PANX1', 'score': 8.04}, {'connected_gene': 'PIWIL4', 'score': 0.77}, {'connected_gene': 'FUT4', 'score': 0.77}, {'connected_gene': 'C11orf97', 'score': 0.31}]
chr11	GH11I094583	94583201	94584869	1.41	[{'connected_gene': 'MRE11', 'score': 7.65}, {'connected_gene': 'ENSG00000255893', 'score': 5.75}, {'connected_gene': 'FUT4', 'score': 5.25}, {'connected_gene': 'ANKRD49', 'score': 2.66}, {'connected_gene': 'PANX1', 'score': 1.75}, {'connected_gene': 'GC11M094556', 'score': 0.34}, {'connected_gene': 'PIWIL4', 'score': 0.26}, {'connected_gene': 'LOC105369436', 'score': 0.23}, {'connected_gene': 'LOC105369438', 'score': 0.1}]
chr11	GH11I093849	93849300	93850844	1.64	[{'connected_gene': 'VSTM5', 'score': 559.18}, {'connected_gene': 'PANX1', 'score': 6.12}, {'connected_gene': 'ENSG00000206911', 'score': 0.34}]
chr11	GH11I093938	93938470	93940833	0.52	[{'connected_gene': 'HEPHL1', 'score': 7.08}, {'connected_gene': 'PANX1', 'score': 5.99}, {'connected_gene': 'LOC105369435', 'score': 4.19}, {'connected_gene': 'PIR53523', 'score': 0.37}, {'connected_gene': 'GC11M093931', 'score': 0.31}]
chr11	GH11I094046	94046506	94047167	0.82	[{'connected_gene': 'HEPHL1', 'score': 12.28}, {'connected_gene': 'PANX1', 'score': 6.77}, {'connected_gene': 'PHBP16', 'score': 0.44}, {'connected_gene': 'GC11M094026', 'score': 0.37}]
chr11	GH11I094148	94148764	94154380	1.33	[{'connected_gene': 'HEPHL1', 'score': 13.71}, {'connected_gene': 'PANX1', 'score': 11.75}, {'connected_gene': 'PIR47114', 'score': 0.34}, {'connected_gene': 'GC11P094183', 'score': 0.29}]
chr11	GH11I093922	93922410	93923741	0.8	[{'connected_gene': 'HEPHL1', 'score': 15.94}, {'connected_gene': 'PANX1', 'score': 4.62}, {'connected_gene': 'PIR53523', 'score': 0.77}, {'connected_gene': 'GC11M093931', 'score': 0.26}]
chr11	GH11I093947	93947775	93948974	0.64	[{'connected_gene': 'HEPHL1', 'score': 11.2}, {'connected_gene': 'PANX1', 'score': 5.57}, {'connected_gene': 'GC11M093931', 'score': 0.37}, {'connected_gene': 'PIR53523', 'score': 0.31}]
chr11	GH11I094171	94171755	94172948	0.59	[{'connected_gene': 'HEPHL1', 'score': 13.32}, {'connected_gene': 'PANX1', 'score': 12.67}, {'connected_gene': 'GC11P094183', 'score': 0.39}, {'connected_gene': 'PIR47114', 'score': 0.26}]
chr11	GH11I094147	94147601	94147800	0.52	[{'connected_gene': 'HEPHL1', 'score': 13.7}, {'connected_gene': 'PIR47114', 'score': 0.37}, {'connected_gene': 'PANX1', 'score': 0.37}, {'connected_gene': 'GC11P094183', 'score': 0.28}]
chr11	GH11I094144	94144201	94144600	0.38	[{'connected_gene': 'HEPHL1', 'score': 13.91}, {'connected_gene': 'PIR47114', 'score': 0.39}, {'connected_gene': 'PANX1', 'score': 0.37}, {'connected_gene': 'GC11P094183', 'score': 0.28}]
chr11	GH11I094140	94140988	94142998	1.15	[{'connected_gene': 'HEPHL1', 'score': 13.28}, {'connected_gene': 'PIR47114', 'score': 0.39}, {'connected_gene': 'PANX1', 'score': 0.39}, {'connected_gene': 'GC11P094183', 'score': 0.26}]
chr11	GH11I094127	94127285	94137684	2.78	[{'connected_gene': 'PANX1', 'score': 574.06}, {'connected_gene': 'MED17', 'score': 43.25}, {'connected_gene': 'ANKRD49', 'score': 30.69}, {'connected_gene': 'MRE11', 'score': 26.25}, {'connected_gene': 'SNORA1', 'score': 23.78}, {'connected_gene': 'HEPHL1', 'score': 17.55}, {'connected_gene': 'FUT4', 'score': 2.13}, {'connected_gene': 'PIR47114', 'score': 0.77}, {'connected_gene': 'GC11P094183', 'score': 0.23}]
chr11	GH11I094174	94174966	94176135	0.2	[{'connected_gene': 'PANX1', 'score': 14.23}, {'connected_gene': 'LOC105369435', 'score': 12.4}, {'connected_gene': 'HEPHL1', 'score': 7.43}, {'connected_gene': 'GC11P094183', 'score': 0.44}, {'connected_gene': 'PIR47114', 'score': 0.25}]
chr11	GH11I093907	93907975	93909504	0.58	[{'connected_gene': 'PANX1', 'score': 4.41}, {'connected_gene': 'PIR53523', 'score': 0.39}, {'connected_gene': 'GC11M093876', 'score': 0.29}]
chr11	GH11I094567	94567319	94567378	1.14	[{'connected_gene': 'PIWIL4', 'score': 550.34}, {'connected_gene': 'PANX1', 'score': 7.1}, {'connected_gene': 'GC11M094556', 'score': 0.77}, {'connected_gene': 'LOC105369436', 'score': 0.2}, {'connected_gene': 'LOC105369438', 'score': 0.09}]
chr11	GH11I094177	94177642	94179387	0.2	[{'connected_gene': 'GPR83', 'score': 18.21}, {'connected_gene': 'PANX1', 'score': 11.21}, {'connected_gene': 'ANKRD49', 'score': 10.23}, {'connected_gene': 'MRE11', 'score': 10.23}, {'connected_gene': 'ENSG00000255893', 'score': 9.72}, {'connected_gene': 'LOC105369435', 'score': 7.37}, {'connected_gene': 'GC11P094183', 'score': 0.77}, {'connected_gene': 'PIR47114', 'score': 0.25}]
chr11	GH11I094601	94601942	94604147	1.49	[{'connected_gene': 'LOC105369438', 'score': 10.83}, {'connected_gene': 'PIWIL4', 'score': 10.69}, {'connected_gene': 'FUT4', 'score': 9.82}, {'connected_gene': 'ENSG00000255893', 'score': 9.66}, {'connected_gene': 'MRE11', 'score': 7.65}, {'connected_gene': 'PANX1', 'score': 1.72}, {'connected_gene': 'ANKRD49', 'score': 1.26}, {'connected_gene': 'LOC105369436', 'score': 0.29}, {'connected_gene': 'GC11M094556', 'score': 0.28}]
chr11	GH11I094199	94199536	94201754	0.86	[{'connected_gene': 'LOC105369435', 'score': 555.77}, {'connected_gene': 'GC11P094202', 'score': 550.77}, {'connected_gene': 'GPR83', 'score': 22.29}, {'connected_gene': 'PANX1', 'score': 7.35}, {'connected_gene': 'GC11P094183', 'score': 0.37}]
chr11	GH11I094184	94184975	94187038	0.43	[{'connected_gene': 'LOC105369435', 'score': 11.22}, {'connected_gene': 'GPR83', 'score': 9.23}, {'connected_gene': 'GC11P094183', 'score': 0.77}, {'connected_gene': 'GC11M094189', 'score': 0.77}, {'connected_gene': 'PANX1', 'score': 0.22}]
chr11	GH11I094027	94027495	94029852	0.51	[{'connected_gene': 'GC11M094026', 'score': 550.77}, {'connected_gene': 'HEPHL1', 'score': 21.53}, {'connected_gene': 'PANX1', 'score': 6.24}, {'connected_gene': 'GC11P094003', 'score': 0.31}, {'connected_gene': 'PHBP16', 'score': 0.31}]
chr11	GH11I094146	94146401	94146600	0.2	[{'connected_gene': 'PIR47114', 'score': 0.37}, {'connected_gene': 'PANX1', 'score': 0.37}, {'connected_gene': 'GC11P094183', 'score': 0.28}]
chr11	GH11I094143	94143055	94143107	0.58	[{'connected_gene': 'PIR47114', 'score': 0.39}, {'connected_gene': 'PANX1', 'score': 0.39}, {'connected_gene': 'GC11P094183', 'score': 0.26}]
chr11	GH11I094139	94139555	94139704	0.51	[{'connected_gene': 'PIR47114', 'score': 0.39}, {'connected_gene': 'PANX1', 'score': 0.39}, {'connected_gene': 'GC11P094183', 'score': 0.26}]
chr11	GH11I093923	93921835	93921964	0.65	[{'connected_gene': 'PIR53523', 'score': 550.77}, {'connected_gene': 'PANX1', 'score': 4.56}, {'connected_gene': 'GC11M093931', 'score': 0.25}]
chr11	GH11I094183	94183801	94184426	0.89	[{'connected_gene': 'GC11P094183', 'score': 550.77}, {'connected_gene': 'GPR83', 'score': 8.29}, {'connected_gene': 'PANX1', 'score': 7.17}, {'connected_gene': 'GC11M094189', 'score': 0.77}]
chr11	GH11I094182	94182035	94182144	0.56	[{'connected_gene': 'GC11P094183', 'score': 550.77}, {'connected_gene': 'LOC105369435', 'score': 9.78}, {'connected_gene': 'PIR47114', 'score': 0.23}, {'connected_gene': 'PANX1', 'score': 0.23}]