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
ENST00000440314	[[3724493, 3724605], [3726119, 3726196], [3728436, 3728538], [3736601, 3736716], [3736790, 3736872], [3742769, 3742902], [3747289, 3747620], [3750897, 3751004], [3753760, 3753806], [3757707, 3757779], [3763377, 3763565], [3765476, 3765572], [3768729, 3768820], [3782611, 3782758], [3788080, 3788264], [3789403, 3789515], [3805937, 3806201], [3822402, 3822483], [3842107, 3842376], [3862180, 3862268]]	[[3724520, 3724605], [3726119, 3726196], [3728436, 3728538], [3736601, 3736716], [3736790, 3736872], [3742769, 3742902], [3747289, 3747620], [3750897, 3751004], [3753760, 3753806], [3757707, 3757779], [3763377, 3763565], [3765476, 3765572], [3768729, 3768820], [3782611, 3782758], [3788080, 3788264], [3789403, 3789515], [3805937, 3806165]]
ENST00000444507	[[3749560, 3749945], [3750897, 3751004], [3753760, 3753806], [3757707, 3757779], [3763377, 3763565], [3765476, 3765572], [3768729, 3768820], [3782611, 3782758], [3788080, 3788264], [3789403, 3789515], [3805937, 3806201], [3822402, 3822483], [3842107, 3842376], [3862180, 3862366]]	[[3749827, 3749945], [3750897, 3751004], [3753760, 3753806], [3757707, 3757779], [3763377, 3763565], [3765476, 3765572], [3768729, 3768820], [3782611, 3782758], [3788080, 3788264], [3789403, 3789515], [3805937, 3806165]]
ENST00000252322	[[3757108, 3757779], [3763377, 3763565], [3765476, 3765572], [3768729, 3768820], [3782611, 3782758], [3788080, 3788264], [3789403, 3789515], [3805937, 3806201], [3822402, 3822483], [3842107, 3842376], [3862180, 3862263]]	[[3757637, 3757779], [3763377, 3763565], [3765476, 3765572], [3768729, 3768820], [3782611, 3782758], [3788080, 3788264], [3789403, 3789515], [3805937, 3806165]]
ENST00000333750	[[3715798, 3716796], [3724100, 3724605], [3726119, 3726196], [3728436, 3728538], [3736601, 3736716], [3736790, 3736872], [3742769, 3742902], [3747289, 3747623], [3750897, 3751004], [3753760, 3753806], [3757525, 3757779], [3763377, 3763565], [3765476, 3765572], [3768729, 3768820], [3782611, 3782690]]	[[3757637, 3757779], [3763377, 3763565], [3765476, 3765572], [3768729, 3768820], [3782611, 3782690]]
ENST00000535292	[[3749552, 3749945], [3750897, 3751004], [3753760, 3753806], [3757707, 3757779], [3763377, 3763389]]	[[3749827, 3749945], [3750897, 3751004], [3753760, 3753806], [3757707, 3757779], [3763377, 3763389]]
ENST00000514026	[[3835077, 3842376], [3873730, 3873985]]	None
ENST00000535507	[[3840051, 3842376], [3862180, 3862366]]	None
NM_001144958	[[3724493, 3724605], [3726119, 3726196], [3728436, 3728538], [3736601, 3736716], [3736790, 3736872], [3742769, 3742902], [3747289, 3747620], [3750897, 3751004], [3753760, 3753806], [3757707, 3757779], [3763377, 3763565], [3765476, 3765572], [3768729, 3768820], [3782611, 3782758], [3788080, 3788264], [3789403, 3789515], [3805937, 3806201], [3822402, 3822483], [3842107, 3842376], [3862180, 3862366]]	[[3724520, 3724605], [3726119, 3726196], [3728436, 3728538], [3736601, 3736716], [3736790, 3736872], [3742769, 3742902], [3747289, 3747620], [3750897, 3751004], [3753760, 3753806], [3757707, 3757779], [3763377, 3763565], [3765476, 3765572], [3768729, 3768820], [3782611, 3782758], [3788080, 3788264], [3789403, 3789515], [3805937, 3806165]]
NM_032680	[[3757108, 3757779], [3763377, 3763565], [3765476, 3765572], [3768729, 3768820], [3782611, 3782758], [3788080, 3788264], [3789403, 3789515], [3805937, 3806201], [3822402, 3822483], [3842107, 3842376], [3862180, 3862366]]	[[3757637, 3757779], [3763377, 3763565], [3765476, 3765572], [3768729, 3768820], [3782611, 3782758], [3788080, 3788264], [3789403, 3789515], [3805937, 3806165]]

Promoter

Chrom	Start	End	Description
chr12	3842242	3842262	CAGE_peak_9_at_EFCAB4B_5end
chr12	3862245	3862294	CAGE_peak_1_at_EFCAB4B_5end
chr12	3862347	3862371	CAGE_peak_2_at_EFCAB4B_5end
chr12	3862373	3862384	CAGE_peak_5_at_EFCAB4B_5end
chr12	3862404	3862418	CAGE_peak_6_at_EFCAB4B_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I004223	4223177	4224908	0.9	[{'connected_gene': 'CCND2', 'score': 11.49}, {'connected_gene': 'CCND2-AS1', 'score': 11.47}, {'connected_gene': 'ENSG00000255920', 'score': 11.47}, {'connected_gene': 'CRACR2A', 'score': 4.49}, {'connected_gene': 'PARP11', 'score': 1.28}, {'connected_gene': 'GC12P005657', 'score': 0.37}]
chr12	GH12I003751	3751123	3755234	1.93	[{'connected_gene': 'CRACR2A', 'score': 556.21}, {'connected_gene': 'ENSG00000283138', 'score': 550.77}, {'connected_gene': 'TULP3', 'score': 5.31}, {'connected_gene': 'GC12P005652', 'score': 0.77}, {'connected_gene': 'PIR55593', 'score': 0.44}]
chr12	GH12I003732	3732955	3733024	0.49	[{'connected_gene': 'CRACR2A', 'score': 5.09}, {'connected_gene': 'RNU6-174P', 'score': 0.44}, {'connected_gene': 'PIR48376', 'score': 0.37}]
chr12	GH12I003622	3622108	3623264	0.52	[{'connected_gene': 'CRACR2A', 'score': 4.72}, {'connected_gene': 'ENSG00000280202', 'score': 0.39}, {'connected_gene': 'GC12P005661', 'score': 0.25}]
chr12	GH12I003755	3755555	3756027	0.31	[{'connected_gene': 'CRACR2A', 'score': 6.27}, {'connected_gene': 'ENSG00000283138', 'score': 0.77}, {'connected_gene': 'PIR55593', 'score': 0.44}, {'connected_gene': 'GC12P005652', 'score': 0.44}]
chr12	GH12I003641	3641135	3642205	0.49	[{'connected_gene': 'TULP3', 'score': 5.15}, {'connected_gene': 'GC12P005661', 'score': 0.31}, {'connected_gene': 'ENSG00000280202', 'score': 0.31}, {'connected_gene': 'CRACR2A', 'score': 0.13}]
chr12	GH12I003757	3757375	3757524	0.63	[{'connected_gene': 'TULP3', 'score': 4.33}, {'connected_gene': 'PIR55593', 'score': 0.77}, {'connected_gene': 'ENSG00000283138', 'score': 0.77}, {'connected_gene': 'GC12P005652', 'score': 0.44}, {'connected_gene': 'CRACR2A', 'score': 0.44}]
chr12	GH12I004151	4151446	4154634	1.65	[{'connected_gene': 'PARP11', 'score': 7.54}, {'connected_gene': 'C12orf4', 'score': 3.15}, {'connected_gene': 'CRACR2A', 'score': 1.3}, {'connected_gene': 'GC12P005650', 'score': 0.44}, {'connected_gene': 'LOC105369612', 'score': 0.23}]
chr12	GH12I003721	3721474	3727053	0.56	[{'connected_gene': 'ITFG2', 'score': 13.97}, {'connected_gene': 'TULP3', 'score': 10.36}, {'connected_gene': 'RNU6-174P', 'score': 0.77}, {'connected_gene': 'GC12M003867', 'score': 0.77}, {'connected_gene': 'CRACR2A', 'score': 0.26}]
chr12	GH12I003684	3684312	3684618	0.81	[{'connected_gene': 'ITFG2', 'score': 18.2}, {'connected_gene': 'TULP3', 'score': 17.47}, {'connected_gene': 'RNU6-174P', 'score': 10.94}, {'connected_gene': 'GC12M003862', 'score': 0.44}, {'connected_gene': 'GC12P005661', 'score': 0.37}, {'connected_gene': 'CRACR2A', 'score': 0.18}]
chr12	GH12I004140	4140615	4144249	1.49	[{'connected_gene': 'HSPA8P5', 'score': 5.22}, {'connected_gene': 'PARP11', 'score': 3.93}, {'connected_gene': 'CRACR2A', 'score': 1.72}, {'connected_gene': 'CCND2', 'score': 1.27}, {'connected_gene': 'C12orf4', 'score': 1.15}, {'connected_gene': 'GC12P005650', 'score': 0.77}, {'connected_gene': 'RPL18P9', 'score': 0.34}]
chr12	GH12I003772	3772535	3772684	0.46	[{'connected_gene': 'RNU6-174P', 'score': 11.27}, {'connected_gene': 'CRACR2A', 'score': 0.44}, {'connected_gene': 'GC12P005647', 'score': 0.39}]
chr12	GH12I003733	3733095	3733104	0.49	[{'connected_gene': 'RNU6-174P', 'score': 0.44}, {'connected_gene': 'PIR48376', 'score': 0.37}, {'connected_gene': 'CRACR2A', 'score': 0.29}]
chr12	GH12I003727	3727401	3729674	0.9	[{'connected_gene': 'RNU6-174P', 'score': 0.77}, {'connected_gene': 'PIR48376', 'score': 0.37}, {'connected_gene': 'CRACR2A', 'score': 0.28}]
chr12	GH12I003729	3729766	3729998	0.2	[{'connected_gene': 'RNU6-174P', 'score': 0.77}, {'connected_gene': 'PIR48376', 'score': 0.37}, {'connected_gene': 'CRACR2A', 'score': 0.29}]
chr12	GH12I003961	3961846	3963583	0.96	[{'connected_gene': 'CCND2-AS1', 'score': 11.66}, {'connected_gene': 'ENSG00000255920', 'score': 11.66}, {'connected_gene': 'CCND2', 'score': 11.66}, {'connected_gene': 'PARP11', 'score': 2.2}, {'connected_gene': 'CRACR2A', 'score': 1.39}, {'connected_gene': 'LOC105369608', 'score': 0.77}, {'connected_gene': 'PIR49890', 'score': 0.39}]
chr12	GH12I003704	3704507	3705615	0.6	[{'connected_gene': 'GC12M003863', 'score': 0.77}, {'connected_gene': 'GC12P005651', 'score': 0.44}, {'connected_gene': 'CRACR2A', 'score': 0.22}]
chr12	GH12I003777	3777295	3777444	0.62	[{'connected_gene': 'GC12P005647', 'score': 0.44}, {'connected_gene': 'CRACR2A', 'score': 0.39}]
chr12	GH12I003697	3697386	3699686	0.8	[{'connected_gene': 'GC12M003863', 'score': 0.77}, {'connected_gene': 'GC12M003862', 'score': 0.44}, {'connected_gene': 'CRACR2A', 'score': 0.2}]
chr12	GH12I003662	3662410	3662708	0.61	[{'connected_gene': 'ENSG00000256969', 'score': 4.7}, {'connected_gene': 'GC12P005661', 'score': 0.44}, {'connected_gene': 'ENSG00000280202', 'score': 0.23}, {'connected_gene': 'CRACR2A', 'score': 0.15}]
chr12	GH12I003717	3717835	3717924	0.4	[{'connected_gene': 'GC12M003867', 'score': 0.77}, {'connected_gene': 'GC12P005651', 'score': 0.44}, {'connected_gene': 'CRACR2A', 'score': 0.25}]
chr12	GH12I003748	3748315	3748464	0.77	[{'connected_gene': 'GC12P005652', 'score': 550.77}, {'connected_gene': 'PIR48376', 'score': 550.77}, {'connected_gene': 'CRACR2A', 'score': 0.37}]
chr12	GH12I003747	3747543	3747824	0.64	[{'connected_gene': 'PIR48376', 'score': 550.77}, {'connected_gene': 'RNU6-174P', 'score': 12.46}, {'connected_gene': 'CRACR2A', 'score': 4.52}, {'connected_gene': 'PARP11', 'score': 2.02}]
chr12	GH12I003743	3743650	3745257	0.52	[{'connected_gene': 'PIR48376', 'score': 0.77}, {'connected_gene': 'RNU6-174P', 'score': 0.37}, {'connected_gene': 'CRACR2A', 'score': 0.34}]