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
chr19	47104494	47104549	CAGE_peak_4_at_CALM3_5end
chr19	47104553	47104633	CAGE_peak_3_at_CALM1_5end,CAGE_peak_3_at_CALM2_5end,CAGE_peak_3_at_CALM3_5end
chr19	47105309	47105316	CAGE_peak_37_at_CALM3_5end
chr19	47105386	47105419	CAGE_peak_10_at_CALM2_5end,CAGE_peak_12_at_CALM3_5end,CAGE_peak_14_at_CALM1_5end
chr19	47105424	47105433	CAGE_peak_32_at_CALM3_5end
chr19	47111456	47111473	CAGE_peak_13_at_CALM2_5end,CAGE_peak_15_at_CALM3_5end,CAGE_peak_17_at_CALM1_5end
chr19	47111483	47111500	CAGE_peak_10_at_CALM3_5end,CAGE_peak_12_at_CALM1_5end,CAGE_peak_8_at_CALM2_5end
chr19	47111516	47111533	CAGE_peak_11_at_CALM2_5end,CAGE_peak_13_at_CALM3_5end,CAGE_peak_15_at_CALM1_5end
chr19	47111536	47111548	CAGE_peak_14_at_CALM2_5end,CAGE_peak_16_at_CALM3_5end,CAGE_peak_18_at_CALM1_5end
chr19	47112820	47112840	CAGE_peak_21_at_CALM3_5end
chr19	47112956	47112974	CAGE_peak_18_at_CALM3_5end
chr19	47112998	47113020	CAGE_peak_17_at_CALM3_5end
chr19	47113027	47113062	CAGE_peak_8_at_CALM3_5end
chr2	47335892	47335907	CAGE_peak_29_at_CALM2_5end,CAGE_peak_35_at_CALM3_5end,CAGE_peak_51_at_CALM1_5end
chr2	47335914	47335927	CAGE_peak_25_at_CALM2_5end,CAGE_peak_31_at_CALM3_5end,CAGE_peak_45_at_CALM1_5end
chr2	47403642	47403660	CAGE_peak_2_at_CALM1_5end,CAGE_peak_2_at_CALM2_5end,CAGE_peak_2_at_CALM3_5end
chr14	90863344	90863356	CAGE_peak_11_at_CALM3_5end,CAGE_peak_13_at_CALM1_5end,CAGE_peak_9_at_CALM2_5end
chr14	90863364	90863382	CAGE_peak_1_at_CALM1_5end,CAGE_peak_1_at_CALM2_5end,CAGE_peak_1_at_CALM3_5end
chr14	90864504	90864518	CAGE_peak_18_at_CALM2_5end,CAGE_peak_23_at_CALM3_5end,CAGE_peak_29_at_CALM1_5end
chr14	90867595	90867626	CAGE_peak_12_at_CALM2_5end,CAGE_peak_14_at_CALM3_5end,CAGE_peak_16_at_CALM1_5end
chr14	90867659	90867699	CAGE_peak_4_at_CALM2_5end,CAGE_peak_5_at_CALM3_5end,CAGE_peak_7_at_CALM1_5end
chr14	90870200	90870249	CAGE_peak_5_at_CALM2_5end,CAGE_peak_6_at_CALM3_5end,CAGE_peak_8_at_CALM1_5end
chr14	90870714	90870738	CAGE_peak_6_at_CALM2_5end,CAGE_peak_7_at_CALM3_5end,CAGE_peak_9_at_CALM1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I046618	46618202	46626933	2.07	[{'connected_gene': 'PTGIR', 'score': 556.03}, {'connected_gene': 'ZC3H4', 'score': 35.44}, {'connected_gene': 'ENSG00000268810', 'score': 25.4}, {'connected_gene': 'BICRA', 'score': 15.07}, {'connected_gene': 'ENSG00000268746', 'score': 12.24}, {'connected_gene': 'IRF2BP1', 'score': 11.56}, {'connected_gene': 'INAFM1', 'score': 10.35}, {'connected_gene': 'SYMPK', 'score': 10.15}, {'connected_gene': 'CCDC61', 'score': 10.0}, {'connected_gene': 'FKRP', 'score': 6.48}, {'connected_gene': 'CALM3', 'score': 5.23}, {'connected_gene': 'PRKD2', 'score': 1.6}, {'connected_gene': 'GC19M046616', 'score': 0.44}]
chr19	GH19I046504	46504097	46504422	0.48	[{'connected_gene': 'PNMA8A', 'score': 18.59}, {'connected_gene': 'PNMA8B', 'score': 4.77}, {'connected_gene': 'DACT3', 'score': 3.18}, {'connected_gene': 'CALM3', 'score': 2.58}, {'connected_gene': 'GC19P046501', 'score': 0.77}, {'connected_gene': 'GC19M046508', 'score': 0.44}, {'connected_gene': 'GC19M046472', 'score': 0.34}, {'connected_gene': 'PPP5D1', 'score': 0.15}]
chr19	GH19I046859	46859201	46867667	1.83	[{'connected_gene': 'CCDC9', 'score': 20.64}, {'connected_gene': 'CCDC61', 'score': 15.39}, {'connected_gene': 'ZC3H4', 'score': 13.62}, {'connected_gene': 'BICRA', 'score': 13.42}, {'connected_gene': 'ARHGAP35', 'score': 12.9}, {'connected_gene': 'SLC1A5', 'score': 12.74}, {'connected_gene': 'ENSG00000269124', 'score': 12.49}, {'connected_gene': 'TMEM160', 'score': 10.76}, {'connected_gene': 'ENSG00000268810', 'score': 10.16}, {'connected_gene': 'PPP5C', 'score': 9.99}, {'connected_gene': 'SAE1', 'score': 9.7}, {'connected_gene': 'AP2S1', 'score': 6.45}, {'connected_gene': 'PNMA8A', 'score': 5.92}, {'connected_gene': 'PNMA8B', 'score': 5.14}, {'connected_gene': 'CALM3', 'score': 3.96}, {'connected_gene': 'DACT3', 'score': 3.43}, {'connected_gene': 'PIR57810', 'score': 0.77}, {'connected_gene': 'GC19M046858', 'score': 0.77}]
chr19	GH19I046600	46600083	46604706	2.33	[{'connected_gene': 'PPP5D1', 'score': 565.51}, {'connected_gene': 'CALM3', 'score': 556.9}, {'connected_gene': 'ENSG00000268423', 'score': 550.77}, {'connected_gene': 'GC19M046598', 'score': 550.77}, {'connected_gene': 'ZC3H4', 'score': 65.44}, {'connected_gene': 'ENSG00000268810', 'score': 43.08}, {'connected_gene': 'CCDC61', 'score': 40.01}, {'connected_gene': 'ENSG00000269148', 'score': 36.1}, {'connected_gene': 'FBXO46', 'score': 30.44}, {'connected_gene': 'CCDC9', 'score': 22.26}, {'connected_gene': 'IRF2BP1', 'score': 21.24}, {'connected_gene': 'PNMA8A', 'score': 14.67}, {'connected_gene': 'DM1-AS', 'score': 13.24}, {'connected_gene': 'GNG8', 'score': 12.29}, {'connected_gene': 'SLC1A5', 'score': 12.06}, {'connected_gene': 'INAFM1', 'score': 11.49}, {'connected_gene': 'PNMA8B', 'score': 10.93}, {'connected_gene': 'ENSG00000269124', 'score': 10.85}, {'connected_gene': 'SLC8A2', 'score': 10.63}, {'connected_gene': 'SAE1', 'score': 10.42}, {'connected_gene': 'QPCTL', 'score': 10.41}, {'connected_gene': 'ENSG00000259605', 'score': 10.18}, {'connected_gene': 'PRKD2', 'score': 10.14}, {'connected_gene': 'NOVA2', 'score': 9.82}, {'connected_gene': 'SNRPD2', 'score': 9.67}, {'connected_gene': 'ENSG00000269292', 'score': 0.44}]
chr19	GH19I046610	46610541	46611181	0.57	[{'connected_gene': 'ENSG00000269292', 'score': 550.77}, {'connected_gene': 'CALM3', 'score': 6.59}, {'connected_gene': 'GC19M046616', 'score': 0.77}, {'connected_gene': 'PTGIR', 'score': 0.39}]
chr19	GH19I046611	46611219	46613007	1.13	[{'connected_gene': 'ENSG00000269292', 'score': 550.77}, {'connected_gene': 'CALM3', 'score': 5.63}, {'connected_gene': 'GC19M046616', 'score': 0.77}, {'connected_gene': 'PTGIR', 'score': 0.39}]

Transcript ID	Transcript exon region	Coding exon region
ENST00000391918	[[47104330, 47104433], [47109083, 47109114], [47111453, 47111597], [47111738, 47111845], [47112102, 47112238], [47112381, 47112562]]	[[47111527, 47111597], [47111738, 47111845], [47112102, 47112238], [47112381, 47112410]]
ENST00000291295	[[47104492, 47104694], [47109083, 47109114], [47111453, 47111597], [47111738, 47111845], [47112102, 47112238], [47112381, 47114050]]	[[47104691, 47104694], [47109083, 47109114], [47111453, 47111597], [47111738, 47111845], [47112102, 47112238], [47112381, 47112410]]
ENST00000597743	[[47104532, 47104694], [47109083, 47109114], [47111453, 47111584], [47112180, 47112238], [47112381, 47112576]]	[[47104691, 47104694], [47109083, 47109114], [47111453, 47111584], [47112180, 47112238], [47112381, 47112410]]
ENST00000477244	[[47104565, 47104694], [47109083, 47109114], [47111455, 47111597], [47111738, 47111845], [47112102, 47112238], [47112381, 47112532]]	None
ENST00000598871	[[47104586, 47104694], [47111453, 47111597], [47111738, 47111845], [47112102, 47112238], [47112381, 47112447]]	[[47111527, 47111597], [47111738, 47111845], [47112102, 47112238], [47112381, 47112410]]
ENST00000602169	[[47104620, 47104694], [47109083, 47109599]]	None
ENST00000594523	[[47104622, 47104694], [47109083, 47109114], [47111461, 47111597], [47111738, 47111845], [47112102, 47112238], [47112381, 47112439]]	[[47111527, 47111597], [47111738, 47111845], [47112102, 47112238], [47112381, 47112410]]
ENST00000597868	[[47104623, 47104694], [47109083, 47109114], [47111453, 47111597], [47111738, 47112238], [47112381, 47112562]]	None
ENST00000599839	[[47105325, 47105347], [47105853, 47105896], [47109083, 47109114], [47111453, 47111597], [47111738, 47111845], [47112102, 47112238], [47112381, 47113253]]	[[47111527, 47111597], [47111738, 47111845], [47112102, 47112238], [47112381, 47112410]]
ENST00000596362	[[47105328, 47105467], [47109083, 47109114], [47111453, 47111597], [47111738, 47111845], [47112102, 47112238], [47112381, 47113027]]	[[47105464, 47105467], [47109083, 47109114], [47111453, 47111597], [47111738, 47111845], [47112102, 47112238], [47112381, 47112410]]
ENST00000482455	[[47108449, 47108562], [47109083, 47109114], [47111453, 47111597], [47111738, 47111845], [47112102, 47112238], [47112381, 47112500]]	None
ENST00000486500	[[47111218, 47111597], [47111738, 47112238], [47112381, 47114038]]	None
ENST00000595072	[[47111229, 47111597], [47111738, 47111845], [47112102, 47112238], [47112381, 47112491]]	None
NM_001329921	[[47104330, 47104433], [47109083, 47109114], [47111453, 47111597], [47111738, 47111845], [47112102, 47112238], [47112381, 47114039]]	[[47111527, 47111597], [47111738, 47111845], [47112102, 47112238], [47112381, 47112410]]
NM_001329925	[[47104406, 47104694], [47111453, 47111597], [47111738, 47111845], [47112102, 47112238], [47112381, 47114039]]	[[47111527, 47111597], [47111738, 47111845], [47112102, 47112238], [47112381, 47112410]]
NM_001329926	[[47104406, 47104694], [47109083, 47109114], [47111461, 47111597], [47111738, 47111845], [47112102, 47112238], [47112381, 47114039]]	[[47111527, 47111597], [47111738, 47111845], [47112102, 47112238], [47112381, 47112410]]
NM_001329924	[[47104406, 47104694], [47109083, 47109114], [47111455, 47111597], [47111738, 47111845], [47112102, 47112238], [47112381, 47114039]]	[[47111527, 47111597], [47111738, 47111845], [47112102, 47112238], [47112381, 47112410]]
NM_005184	[[47104406, 47104694], [47109083, 47109114], [47111453, 47111597], [47111738, 47111845], [47112102, 47112238], [47112381, 47114039]]	[[47104691, 47104694], [47109083, 47109114], [47111453, 47111597], [47111738, 47111845], [47112102, 47112238], [47112381, 47112410]]
NM_001329923	[[47105325, 47105347], [47105853, 47105896], [47109083, 47109114], [47111453, 47111597], [47111738, 47111845], [47112102, 47112238], [47112381, 47114039]]	[[47111527, 47111597], [47111738, 47111845], [47112102, 47112238], [47112381, 47112410]]
NM_001329922	[[47105328, 47105467], [47109083, 47109114], [47111453, 47111597], [47111738, 47111845], [47112102, 47112238], [47112381, 47114039]]	[[47105464, 47105467], [47109083, 47109114], [47111453, 47111597], [47111738, 47111845], [47112102, 47112238], [47112381, 47112410]]