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
chr17	3375048	3375123	CAGE_peak_1_at_SPATA22_5end
chr17	3417135	3417158	CAGE_peak_2_at_SPATA22_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I003510	3510167	3510316	0.4	[{'connected_gene': 'SPATA22', 'score': 0.77}, {'connected_gene': 'PIR41418', 'score': 0.77}, {'connected_gene': 'ASPA', 'score': 0.28}]
chr17	GH17I003502	3502587	3502736	0.4	[{'connected_gene': 'SPATA22', 'score': 0.39}, {'connected_gene': 'PIR41418', 'score': 0.39}, {'connected_gene': 'ASPA', 'score': 0.29}]
chr17	GH17I003511	3511768	3513932	1.07	[{'connected_gene': 'SPATA22', 'score': 561.28}, {'connected_gene': 'PIR41418', 'score': 550.77}, {'connected_gene': 'GC17M003518', 'score': 0.34}, {'connected_gene': 'TRPV3', 'score': 0.25}]
chr17	GH17I003514	3514269	3515542	0.2	[{'connected_gene': 'SPATA22', 'score': 557.78}, {'connected_gene': 'GC17M003518', 'score': 0.34}, {'connected_gene': 'TRPV3', 'score': 0.26}]
chr17	GH17I003516	3516243	3517015	0.2	[{'connected_gene': 'SPATA22', 'score': 0.77}, {'connected_gene': 'GC17M003518', 'score': 0.34}, {'connected_gene': 'TRPV3', 'score': 0.26}]
chr17	GH17I003503	3503477	3504445	0.2	[{'connected_gene': 'OR1E2', 'score': 10.45}, {'connected_gene': 'SPATA22', 'score': 9.75}, {'connected_gene': 'OR1E1', 'score': 4.68}, {'connected_gene': 'PIR41418', 'score': 0.44}, {'connected_gene': 'ASPA', 'score': 0.29}]
chr17	GH17I003499	3499389	3501001	0.2	[{'connected_gene': 'OR1E2', 'score': 10.79}, {'connected_gene': 'SPATA22', 'score': 0.39}, {'connected_gene': 'PIR41418', 'score': 0.39}, {'connected_gene': 'ASPA', 'score': 0.31}]
chr17	GH17I003523	3523464	3525141	0.2	[{'connected_gene': 'OR1E2', 'score': 10.44}, {'connected_gene': 'GC17M003518', 'score': 0.39}, {'connected_gene': 'SPATA22', 'score': 0.39}, {'connected_gene': 'TRPV3', 'score': 0.29}]
chr17	GH17I003520	3520848	3521764	0.2	[{'connected_gene': 'OR1E2', 'score': 10.45}, {'connected_gene': 'OR1E1', 'score': 5.09}, {'connected_gene': 'SPATA22', 'score': 0.44}, {'connected_gene': 'GC17M003518', 'score': 0.37}, {'connected_gene': 'TRPV3', 'score': 0.28}]
chr17	GH17I003518	3518361	3519853	0.57	[{'connected_gene': 'OR1E2', 'score': 10.38}, {'connected_gene': 'OR1E1', 'score': 5.84}, {'connected_gene': 'SPATA22', 'score': 0.44}, {'connected_gene': 'GC17M003518', 'score': 0.37}, {'connected_gene': 'TRPV3', 'score': 0.28}]
chr17	GH17I003386	3386094	3386529	0.49	[{'connected_gene': 'OR3A1', 'score': 560.65}, {'connected_gene': 'OR3A2', 'score': 550.77}, {'connected_gene': 'OR1R1P', 'score': 550.77}, {'connected_gene': 'SPATA22', 'score': 15.23}, {'connected_gene': 'ASPA', 'score': 13.11}, {'connected_gene': 'OR3A3', 'score': 11.59}, {'connected_gene': 'OR1E2', 'score': 10.91}]
chr17	GH17I003482	3482967	3483116	0.31	[{'connected_gene': 'ASPA', 'score': 0.39}, {'connected_gene': 'PIR41418', 'score': 0.31}, {'connected_gene': 'SPATA22', 'score': 0.29}]
chr17	GH17I003471	3471809	3471868	0.5	[{'connected_gene': 'ASPA', 'score': 550.77}, {'connected_gene': 'GC17M003470', 'score': 550.77}, {'connected_gene': 'SPATA22', 'score': 550.26}]
chr17	GH17I003473	3473632	3476600	1.83	[{'connected_gene': 'ASPA', 'score': 560.82}, {'connected_gene': 'SPATA22', 'score': 0.28}, {'connected_gene': 'PIR41418', 'score': 0.28}]
chr17	GH17I003528	3528491	3532326	1.43	[{'connected_gene': 'TRPV3', 'score': 40.69}, {'connected_gene': 'ASPA', 'score': 32.22}, {'connected_gene': 'OR1E2', 'score': 10.43}, {'connected_gene': 'CAMKK1', 'score': 3.36}, {'connected_gene': 'TRPV1', 'score': 3.19}, {'connected_gene': 'GC17M003518', 'score': 0.44}, {'connected_gene': 'SPATA22', 'score': 0.37}]
chr17	GH17I003534	3534676	3537003	1.6	[{'connected_gene': 'GC17M003518', 'score': 550.77}, {'connected_gene': 'TRPV3', 'score': 36.18}, {'connected_gene': 'RN7SL608P', 'score': 31.57}, {'connected_gene': 'ZZEF1', 'score': 29.96}, {'connected_gene': 'ANKFY1', 'score': 29.76}, {'connected_gene': 'LOC105371592', 'score': 11.45}, {'connected_gene': 'LOC105371492', 'score': 10.37}, {'connected_gene': 'OR3A3', 'score': 10.27}, {'connected_gene': 'P2RX5', 'score': 9.75}, {'connected_gene': 'SPATA22', 'score': 0.34}]

Transcript ID	Transcript exon region	Coding exon region
ENST00000541913	[[3343315, 3343632], [3346467, 3346565], [3349765, 3349895], [3352100, 3352443], [3365776, 3365872], [3366000, 3366061], [3370767, 3370848], [3372576, 3372692], [3416705, 3417146]]	[[3343440, 3343632], [3346467, 3346565], [3349765, 3349895], [3352100, 3352443], [3365776, 3365872], [3366000, 3366061], [3370767, 3370848], [3372576, 3372619]]
ENST00000570318	[[3372610, 3372692], [3416904, 3417062]]	[[3372610, 3372619]]
ENST00000397168	[[3343312, 3343632], [3346467, 3346565], [3349765, 3349895], [3352100, 3352443], [3365776, 3365872], [3366000, 3366061], [3370719, 3370848], [3372576, 3372692], [3374876, 3375040]]	[[3343440, 3343632], [3346467, 3346565], [3349765, 3349895], [3352100, 3352443], [3365776, 3365872], [3366000, 3366061], [3370719, 3370848], [3372576, 3372619]]
ENST00000572969	[[3343312, 3343632], [3346467, 3346565], [3349765, 3349895], [3352100, 3352443], [3365776, 3365872], [3366000, 3366061], [3370719, 3370848], [3372576, 3372692], [3374975, 3375081]]	[[3343440, 3343632], [3346467, 3346565], [3349765, 3349895], [3352100, 3352443], [3365776, 3365872], [3366000, 3366061], [3370719, 3370848], [3372576, 3372619]]
ENST00000355380	[[3343312, 3343632], [3346467, 3346565], [3349765, 3349895], [3352100, 3352443], [3365776, 3365872], [3366000, 3366061], [3372576, 3372692], [3375039, 3375091]]	[[3343440, 3343632], [3346467, 3346565], [3349765, 3349895], [3352100, 3352443], [3365776, 3365872], [3366000, 3366061], [3372576, 3372619]]
ENST00000575375	[[3343312, 3343632], [3346467, 3346565], [3349765, 3349895], [3352100, 3352443], [3365776, 3365872], [3366000, 3366061], [3370719, 3370848], [3372576, 3372692], [3375039, 3375120]]	[[3343440, 3343632], [3346467, 3346565], [3349765, 3349895], [3352100, 3352443], [3365776, 3365872], [3366000, 3366061], [3370719, 3370848], [3372576, 3372619]]
ENST00000573128	[[3343312, 3343632], [3346467, 3346565], [3349765, 3349895], [3352100, 3352443], [3365776, 3365872], [3366000, 3366061], [3370719, 3370848], [3372576, 3372692], [3375017, 3375428]]	[[3343440, 3343632], [3346467, 3346565], [3349765, 3349895], [3352100, 3352443], [3365776, 3365872], [3366000, 3366061], [3370719, 3370848], [3372576, 3372619]]
ENST00000268981	[[3343536, 3343632], [3349765, 3349895], [3352100, 3352443], [3365776, 3365872], [3366000, 3366061], [3370719, 3370848], [3372576, 3372692], [3374724, 3375033]]	[[3343624, 3343632], [3349765, 3349895], [3352100, 3352443], [3365776, 3365872], [3366000, 3366061], [3370719, 3370848], [3372576, 3372619]]
ENST00000571553	[[3349849, 3349895], [3352100, 3352443], [3365776, 3365872], [3366000, 3366061], [3370767, 3370819], [3372576, 3372692], [3374975, 3375095]]	[[3349849, 3349895], [3352100, 3352443], [3365776, 3365872], [3366000, 3366020]]
ENST00000574051	[[3352105, 3352443], [3365776, 3365872], [3366000, 3366061], [3370767, 3370848], [3372128, 3372191], [3372576, 3372609]]	[[3352105, 3352443], [3365776, 3365872], [3366000, 3366061], [3370767, 3370848], [3372128, 3372180]]
ENST00000574797	[[3352113, 3352443], [3365776, 3365872], [3366000, 3366061], [3375039, 3375118]]	[[3352113, 3352443], [3365776, 3365872], [3366000, 3366020]]
ENST00000572582	[[3352280, 3352443], [3365776, 3365872], [3366000, 3366061], [3370719, 3370848], [3372576, 3372692], [3375160, 3375592]]	[[3352280, 3352443], [3365776, 3365872], [3366000, 3366061], [3370719, 3370848], [3372576, 3372619]]
ENST00000571607	[[3352304, 3352443], [3365776, 3365872], [3366000, 3366061], [3370719, 3370848], [3371499, 3371651]]	[[3352304, 3352443], [3365776, 3365872], [3366000, 3366020]]
ENST00000574457	[[3366036, 3366061], [3370767, 3370848], [3372576, 3372692], [3375039, 3375635]]	[[3366036, 3366061], [3370767, 3370848], [3372576, 3372619]]
NM_001321337	[[3343304, 3343632], [3346467, 3346565], [3349765, 3349895], [3352100, 3352443], [3365776, 3365872], [3366000, 3366061], [3370719, 3370848], [3372576, 3372692], [3416705, 3417146]]	[[3343440, 3343632], [3346467, 3346565], [3349765, 3349895], [3352100, 3352443], [3365776, 3365872], [3366000, 3366061], [3370719, 3370848], [3372576, 3372619]]
NM_001321336	[[3343304, 3343632], [3346467, 3346565], [3349765, 3349895], [3352100, 3352443], [3365776, 3365872], [3366000, 3366061], [3370767, 3370848], [3372576, 3372692], [3416705, 3417146]]	[[3343440, 3343632], [3346467, 3346565], [3349765, 3349895], [3352100, 3352443], [3365776, 3365872], [3366000, 3366061], [3370767, 3370848], [3372576, 3372619]]
NM_032598	[[3343304, 3343632], [3346467, 3346565], [3349765, 3349895], [3352100, 3352443], [3365776, 3365872], [3366000, 3366061], [3370719, 3370848], [3372576, 3372692], [3374876, 3375041]]	[[3343440, 3343632], [3346467, 3346565], [3349765, 3349895], [3352100, 3352443], [3365776, 3365872], [3366000, 3366061], [3370719, 3370848], [3372576, 3372619]]
NM_001170699	[[3343304, 3343632], [3349765, 3349895], [3352100, 3352443], [3365776, 3365872], [3366000, 3366061], [3370719, 3370848], [3372576, 3372692], [3374724, 3375067]]	[[3343624, 3343632], [3349765, 3349895], [3352100, 3352443], [3365776, 3365872], [3366000, 3366061], [3370719, 3370848], [3372576, 3372619]]
NM_001170698	[[3343304, 3343632], [3346467, 3346565], [3349765, 3349895], [3352100, 3352443], [3365776, 3365872], [3366000, 3366061], [3370719, 3370848], [3372576, 3372692], [3374975, 3375099]]	[[3343440, 3343632], [3346467, 3346565], [3349765, 3349895], [3352100, 3352443], [3365776, 3365872], [3366000, 3366061], [3370719, 3370848], [3372576, 3372619]]
NM_001170697	[[3343304, 3343632], [3346467, 3346565], [3349765, 3349895], [3352100, 3352443], [3365776, 3365872], [3366000, 3366061], [3370719, 3370848], [3372576, 3372692], [3375017, 3375126]]	[[3343440, 3343632], [3346467, 3346565], [3349765, 3349895], [3352100, 3352443], [3365776, 3365872], [3366000, 3366061], [3370719, 3370848], [3372576, 3372619]]
NM_001170695	[[3343304, 3343632], [3346467, 3346565], [3349765, 3349895], [3352100, 3352443], [3365776, 3365872], [3366000, 3366061], [3370719, 3370848], [3372576, 3372692], [3375039, 3375142]]	[[3343440, 3343632], [3346467, 3346565], [3349765, 3349895], [3352100, 3352443], [3365776, 3365872], [3366000, 3366061], [3370719, 3370848], [3372576, 3372619]]
NM_001170696	[[3343304, 3343632], [3346467, 3346565], [3349765, 3349895], [3352100, 3352443], [3365776, 3365872], [3366000, 3366061], [3372576, 3372692], [3375039, 3375142]]	[[3343440, 3343632], [3346467, 3346565], [3349765, 3349895], [3352100, 3352443], [3365776, 3365872], [3366000, 3366061], [3372576, 3372619]]