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
ENST00000256496	[[5163904, 5164273], [5212187, 5212268], [5213834, 5213908], [5214331, 5214425], [5215701, 5215769], [5216028, 5216099], [5220348, 5222596]]	[[5164150, 5164273], [5212187, 5212268], [5213834, 5213908], [5214331, 5214425], [5215701, 5215769], [5216028, 5216099], [5220348, 5220398]]
ENST00000429403	[[5163933, 5164273], [5170144, 5170269], [5212187, 5212268], [5213834, 5213908], [5214331, 5214420]]	[[5163978, 5164273], [5170144, 5170158]]
ENST00000444332	[[5163976, 5164273], [5212187, 5212622]]	None
ENST00000455168	[[5163976, 5164273], [5212187, 5212241], [5213834, 5213908], [5214331, 5214425], [5215701, 5215769], [5216028, 5216099], [5220348, 5221331]]	[[5163978, 5164273], [5212187, 5212204]]
ENST00000419534	[[5163980, 5164273], [5212187, 5212268], [5213834, 5213908], [5214331, 5214425], [5220348, 5221490]]	[[5164150, 5164273], [5212187, 5212268], [5213834, 5213908], [5214331, 5214425], [5220348, 5220468]]
ENST00000468010	[[5212236, 5212268], [5215726, 5215769], [5216028, 5216099], [5220348, 5220654]]	None
ENST00000476343	[[5215937, 5216099], [5220348, 5220393]]	None
NM_018184	[[5163929, 5164273], [5212187, 5212268], [5213834, 5213908], [5214331, 5214425], [5215701, 5215769], [5216028, 5216099], [5220348, 5222601]]	[[5164150, 5164273], [5212187, 5212268], [5213834, 5213908], [5214331, 5214425], [5215701, 5215769], [5216028, 5216099], [5220348, 5220398]]

Promoter

Chrom	Start	End	Description
chr3	5163961	5164039	CAGE_peak_1_at_ARL8B_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr3	GH03I005010	5010403	5014289	1.71	[{'connected_gene': 'EDEM1', 'score': 14.25}, {'connected_gene': 'BHLHE40', 'score': 13.79}, {'connected_gene': 'ARL8B', 'score': 9.96}, {'connected_gene': 'LOC105376934', 'score': 0.39}, {'connected_gene': 'BHLHE40-AS1', 'score': 0.29}]
chr3	GH03I005180	5180333	5200942	2.79	[{'connected_gene': 'EDEM1', 'score': 565.38}, {'connected_gene': 'ARL8B', 'score': 34.47}, {'connected_gene': 'BHLHE40', 'score': 5.11}, {'connected_gene': 'ENSG00000268509', 'score': 0.77}, {'connected_gene': 'ENSG00000233912', 'score': 0.77}, {'connected_gene': 'PIR54874', 'score': 0.31}]
chr3	GH03I005149	5149478	5149701	0.8	[{'connected_gene': 'EDEM1', 'score': 17.65}, {'connected_gene': 'ARL8B', 'score': 16.56}, {'connected_gene': 'ENSG00000233912', 'score': 12.16}, {'connected_gene': 'BHLHE40', 'score': 3.35}]
chr3	GH03I005125	5125581	5127650	0.85	[{'connected_gene': 'EDEM1', 'score': 18.06}, {'connected_gene': 'ARL8B', 'score': 16.56}, {'connected_gene': 'ENSG00000233912', 'score': 11.81}]
chr3	GH03I005146	5146299	5147106	0.38	[{'connected_gene': 'EDEM1', 'score': 16.34}, {'connected_gene': 'ARL8B', 'score': 15.03}, {'connected_gene': 'ENSG00000233912', 'score': 11.75}]
chr3	GH03I005157	5157201	5158400	0.63	[{'connected_gene': 'EDEM1', 'score': 16.83}, {'connected_gene': 'ARL8B', 'score': 16.17}, {'connected_gene': 'ENSG00000233912', 'score': 11.92}]
chr3	GH03I005115	5115527	5116077	1.28	[{'connected_gene': 'EDEM1', 'score': 10.1}, {'connected_gene': 'ARL8B', 'score': 0.44}, {'connected_gene': 'ENSG00000237566', 'score': 0.37}]
chr3	GH03I004975	4975578	4989942	2.75	[{'connected_gene': 'BHLHE40', 'score': 572.1}, {'connected_gene': 'EDEM1', 'score': 14.95}, {'connected_gene': 'ARL8B', 'score': 12.03}, {'connected_gene': 'ENSG00000235978', 'score': 11.71}, {'connected_gene': 'EGOT', 'score': 11.35}, {'connected_gene': 'SETMAR', 'score': 10.79}, {'connected_gene': 'ITPR1', 'score': 1.28}, {'connected_gene': 'BHLHE40-AS1', 'score': 0.77}, {'connected_gene': 'GC03M004976', 'score': 0.77}, {'connected_gene': 'LOC105376934', 'score': 0.26}]
chr3	GH03I005015	5015930	5027953	1.86	[{'connected_gene': 'BHLHE40', 'score': 18.16}, {'connected_gene': 'ARL8B', 'score': 17.3}, {'connected_gene': 'EDEM1', 'score': 7.61}, {'connected_gene': 'LOC105376934', 'score': 0.44}, {'connected_gene': 'BHLHE40-AS1', 'score': 0.26}]
chr3	GH03I005002	5002012	5003388	1.5	[{'connected_gene': 'BHLHE40', 'score': 27.11}, {'connected_gene': 'BHLHE40-AS1', 'score': 11.96}, {'connected_gene': 'ENSG00000235978', 'score': 11.18}, {'connected_gene': 'ARL8B', 'score': 6.05}, {'connected_gene': 'EDEM1', 'score': 3.82}, {'connected_gene': 'LOC105376934', 'score': 0.34}]
chr3	GH03I005051	5051371	5056599	1.5	[{'connected_gene': 'BHLHE40', 'score': 20.84}, {'connected_gene': 'BHLHE40-AS1', 'score': 12.22}, {'connected_gene': 'ENSG00000235978', 'score': 11.03}, {'connected_gene': 'EGOT', 'score': 10.97}, {'connected_gene': 'ARL8B', 'score': 7.19}, {'connected_gene': 'EDEM1', 'score': 5.5}, {'connected_gene': 'GC03M005068', 'score': 0.37}, {'connected_gene': 'LOC105376934', 'score': 0.31}]
chr3	GH03I005136	5136212	5141212	1.66	[{'connected_gene': 'ARL8B', 'score': 33.7}, {'connected_gene': 'EDEM1', 'score': 21.47}, {'connected_gene': 'ENSG00000233912', 'score': 12.65}, {'connected_gene': 'BHLHE40', 'score': 6.96}]
chr3	GH03I005143	5143401	5143840	0.77	[{'connected_gene': 'ARL8B', 'score': 21.96}, {'connected_gene': 'EDEM1', 'score': 16.78}, {'connected_gene': 'ENSG00000233912', 'score': 12.14}, {'connected_gene': 'BHLHE40', 'score': 5.11}]
chr3	GH03I004824	4824109	4829676	1.67	[{'connected_gene': 'ARL8B', 'score': 20.44}, {'connected_gene': 'EDEM1', 'score': 14.35}, {'connected_gene': 'SETMAR', 'score': 10.79}, {'connected_gene': 'ENSG00000235978', 'score': 7.63}, {'connected_gene': 'BHLHE40', 'score': 6.97}, {'connected_gene': 'ITPR1', 'score': 6.22}, {'connected_gene': 'EGOT', 'score': 0.18}]
chr3	GH03I004993	4993074	4997383	1.74	[{'connected_gene': 'ARL8B', 'score': 16.95}, {'connected_gene': 'EDEM1', 'score': 14.05}, {'connected_gene': 'ENSG00000235978', 'score': 11.51}, {'connected_gene': 'SETMAR', 'score': 10.79}, {'connected_gene': 'SUMF1', 'score': 10.26}, {'connected_gene': 'BHLHE40', 'score': 7.81}, {'connected_gene': 'BHLHE40-AS1', 'score': 0.37}, {'connected_gene': 'LOC105376934', 'score': 0.29}]
chr3	GH03I005121	5121636	5125321	2.3	[{'connected_gene': 'ARL8B', 'score': 562.52}, {'connected_gene': 'EDEM1', 'score': 16.96}, {'connected_gene': 'ENSG00000233912', 'score': 11.81}, {'connected_gene': 'SETMAR', 'score': 10.79}]
chr3	GH03I005220	5219795	5223175	0.57	[{'connected_gene': 'ARL8B', 'score': 7.78}, {'connected_gene': 'PIR54874', 'score': 0.44}, {'connected_gene': 'GC03P005243', 'score': 0.34}, {'connected_gene': 'EDEM1', 'score': 0.29}]
chr3	GH03I005151	5151475	5153118	0.59	[{'connected_gene': 'ARL8B', 'score': 16.71}, {'connected_gene': 'ENSG00000233912', 'score': 11.89}, {'connected_gene': 'EDEM1', 'score': 11.89}]
chr3	GH03I005133	5133601	5134400	0.69	[{'connected_gene': 'ARL8B', 'score': 21.96}, {'connected_gene': 'EDEM1', 'score': 5.18}, {'connected_gene': 'ENSG00000233912', 'score': 0.23}]
chr3	GH03I005144	5144001	5145599	1.04	[{'connected_gene': 'ARL8B', 'score': 15.64}, {'connected_gene': 'ENSG00000233912', 'score': 12.14}, {'connected_gene': 'EDEM1', 'score': 12.14}]
chr3	GH03I005154	5154369	5156126	0.46	[{'connected_gene': 'ARL8B', 'score': 20.19}, {'connected_gene': 'EDEM1', 'score': 16.81}, {'connected_gene': 'ENSG00000233912', 'score': 11.9}]
chr3	GH03I004990	4990089	4990446	0.87	[{'connected_gene': 'ARL8B', 'score': 16.42}, {'connected_gene': 'ENSG00000235978', 'score': 10.82}, {'connected_gene': 'BHLHE40', 'score': 7.14}, {'connected_gene': 'EDEM1', 'score': 5.31}, {'connected_gene': 'BHLHE40-AS1', 'score': 0.39}, {'connected_gene': 'LOC105376934', 'score': 0.28}]
chr3	GH03I004717	4717913	4723599	1.66	[{'connected_gene': 'ARL8B', 'score': 21.69}, {'connected_gene': 'BHLHE40', 'score': 17.82}, {'connected_gene': 'EGOT', 'score': 12.77}, {'connected_gene': 'BHLHE40-AS1', 'score': 12.0}, {'connected_gene': 'ENSG00000235978', 'score': 11.99}, {'connected_gene': 'EDEM1', 'score': 5.84}, {'connected_gene': 'ENSG00000275981', 'score': 0.31}, {'connected_gene': 'LOC105376933', 'score': 0.12}, {'connected_gene': 'ITPR1', 'score': 0.07}]
chr3	GH03I004738	4738778	4743730	1.82	[{'connected_gene': 'ARL8B', 'score': 18.09}, {'connected_gene': 'ENSG00000235978', 'score': 11.09}, {'connected_gene': 'SETMAR', 'score': 10.81}, {'connected_gene': 'BHLHE40', 'score': 6.99}, {'connected_gene': 'EDEM1', 'score': 6.76}, {'connected_gene': 'ITPR1', 'score': 1.95}, {'connected_gene': 'ENSG00000275981', 'score': 0.44}, {'connected_gene': 'LOC105376933', 'score': 0.1}]
chr3	GH03I005463	5463801	5465400	0.58	[{'connected_gene': 'ARL8B', 'score': 4.8}, {'connected_gene': 'MRPS35P1', 'score': 0.37}, {'connected_gene': 'GC03P005513', 'score': 0.25}]
chr3	GH03I004866	4866161	4870138	1.79	[{'connected_gene': 'ARL8B', 'score': 28.36}, {'connected_gene': 'EGOT', 'score': 10.82}, {'connected_gene': 'BHLHE40', 'score': 9.83}, {'connected_gene': 'EDEM1', 'score': 7.22}, {'connected_gene': 'ITPR1', 'score': 1.54}, {'connected_gene': 'ENSG00000235978', 'score': 0.37}]
chr3	GH03I005095	5095801	5096435	0.58	[{'connected_gene': 'ARL8B', 'score': 13.29}, {'connected_gene': 'ENSG00000237566', 'score': 0.77}, {'connected_gene': 'ENSG00000207283', 'score': 0.44}, {'connected_gene': 'GC03M005086', 'score': 0.44}]
chr3	GH03I005166	5166420	5170602	0.54	[{'connected_gene': 'ARL8B', 'score': 21.06}, {'connected_gene': 'ENSG00000233912', 'score': 0.37}]
chr3	GH03I005160	5160696	5163124	1.09	[{'connected_gene': 'ARL8B', 'score': 22.02}, {'connected_gene': 'ENSG00000233912', 'score': 0.31}]
chr3	GH03I005128	5128032	5129517	0.46	[{'connected_gene': 'ARL8B', 'score': 16.48}, {'connected_gene': 'ENSG00000233912', 'score': 0.22}]
chr3	GH03I004830	4829822	4829986	0.61	[{'connected_gene': 'ITPR1', 'score': 6.78}, {'connected_gene': 'BHLHE40', 'score': 2.67}, {'connected_gene': 'ARL8B', 'score': 2.01}, {'connected_gene': 'ENSG00000235978', 'score': 0.22}, {'connected_gene': 'EGOT', 'score': 0.18}]
chr3	GH03I005214	5214155	5217747	0.31	[{'connected_gene': 'PIR54874', 'score': 550.77}, {'connected_gene': 'ARL8B', 'score': 11.19}, {'connected_gene': 'EDEM1', 'score': 10.73}, {'connected_gene': 'GC03P005243', 'score': 0.31}]
chr3	GH03I005164	5164299	5166269	0.38	[{'connected_gene': 'ENSG00000233912', 'score': 0.34}, {'connected_gene': 'ARL8B', 'score': 0.26}]
chr3	GH03I005173	5173630	5174438	0.31	[{'connected_gene': 'ENSG00000233912', 'score': 0.39}, {'connected_gene': 'ARL8B', 'score': 0.23}]
chr3	GH03I005108	5108396	5108525	0.97	[{'connected_gene': 'ENSG00000237566', 'score': 0.44}, {'connected_gene': 'ARL8B', 'score': 0.39}]