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
ENST00000400419	[[44717678, 44718058], [44734738, 44735067], [44735280, 44735393]]	[[44718053, 44718058], [44734738, 44734991]]
NM_024058	[[44717286, 44718058], [44734738, 44735067], [44735280, 44735393]]	[[44718053, 44718058], [44734738, 44734991]]

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr13	GH13I044140	44140265	44140494	0.62	[{'connected_gene': 'SMIM2', 'score': 11.9}, {'connected_gene': 'LINC00390', 'score': 0.44}, {'connected_gene': 'GC13P044121', 'score': 0.37}, {'connected_gene': 'SMIM2-AS1', 'score': 0.31}]
chr13	GH13I044378	44378782	44380794	0.31	[{'connected_gene': 'SMIM2', 'score': 10.18}, {'connected_gene': 'SMIM2-IT1', 'score': 10.18}, {'connected_gene': 'SERP2', 'score': 0.44}, {'connected_gene': 'LOC105370297', 'score': 0.44}, {'connected_gene': 'TUSC8', 'score': 0.31}]
chr13	GH13I044132	44132493	44133600	0.74	[{'connected_gene': 'SMIM2', 'score': 11.59}, {'connected_gene': 'SMIM2-IT1', 'score': 11.59}, {'connected_gene': 'LINC00390', 'score': 0.39}, {'connected_gene': 'GC13P044121', 'score': 0.39}, {'connected_gene': 'SMIM2-AS1', 'score': 0.34}]
chr13	GH13I044112	44112206	44113655	0.46	[{'connected_gene': 'SMIM2', 'score': 11.36}, {'connected_gene': 'SMIM2-IT1', 'score': 11.36}, {'connected_gene': 'SMIM2-AS1', 'score': 0.77}, {'connected_gene': 'GC13P044121', 'score': 0.44}, {'connected_gene': 'LINC00390', 'score': 0.29}]
chr13	GH13I044116	44116478	44118379	0.4	[{'connected_gene': 'SMIM2', 'score': 11.38}, {'connected_gene': 'SMIM2-IT1', 'score': 11.38}, {'connected_gene': 'GC13P044121', 'score': 0.77}, {'connected_gene': 'SMIM2-AS1', 'score': 0.44}, {'connected_gene': 'LINC00390', 'score': 0.29}]
chr13	GH13I044218	44218630	44220907	1.17	[{'connected_gene': 'SMIM2', 'score': 11.6}, {'connected_gene': 'SMIM2-IT1', 'score': 11.59}, {'connected_gene': 'SMIM2-AS1', 'score': 11.41}, {'connected_gene': 'GC13P044200', 'score': 0.37}, {'connected_gene': 'ENSG00000230731', 'score': 0.34}]
chr13	GH13I044211	44211807	44212012	0.63	[{'connected_gene': 'SMIM2', 'score': 11.52}, {'connected_gene': 'SMIM2-IT1', 'score': 11.52}, {'connected_gene': 'SMIM2-AS1', 'score': 11.44}, {'connected_gene': 'GC13P044200', 'score': 0.39}, {'connected_gene': 'ENSG00000230731', 'score': 0.29}]
chr13	GH13I044212	44212777	44213761	0.63	[{'connected_gene': 'SMIM2', 'score': 11.52}, {'connected_gene': 'SMIM2-IT1', 'score': 11.51}, {'connected_gene': 'SMIM2-AS1', 'score': 11.44}, {'connected_gene': 'GC13P044200', 'score': 0.39}, {'connected_gene': 'ENSG00000230731', 'score': 0.31}]
chr13	GH13I044210	44210882	44211163	0.38	[{'connected_gene': 'SMIM2', 'score': 11.53}, {'connected_gene': 'SMIM2-IT1', 'score': 11.52}, {'connected_gene': 'SMIM2-AS1', 'score': 11.44}, {'connected_gene': 'GC13P044200', 'score': 0.39}, {'connected_gene': 'ENSG00000230731', 'score': 0.29}]
chr13	GH13I044157	44157870	44161720	1.15	[{'connected_gene': 'SMIM2', 'score': 550.77}, {'connected_gene': 'SMIM2-IT1', 'score': 550.77}, {'connected_gene': 'SMIM2-AS1', 'score': 11.42}]
chr13	GH13I044187	44187707	44189171	0.59	[{'connected_gene': 'SMIM2', 'score': 12.52}, {'connected_gene': 'SMIM2-IT1', 'score': 12.5}, {'connected_gene': 'SMIM2-AS1', 'score': 11.33}, {'connected_gene': 'ENSG00000276854', 'score': 0.44}]
chr13	GH13I044317	44317675	44318625	0.51	[{'connected_gene': 'SMIM2', 'score': 10.18}, {'connected_gene': 'SMIM2-IT1', 'score': 10.18}, {'connected_gene': 'GC13M044319', 'score': 0.44}, {'connected_gene': 'GC13M044260', 'score': 0.22}]
chr13	GH13I044191	44191065	44192747	1.26	[{'connected_gene': 'GPALPP1', 'score': 15.31}, {'connected_gene': 'SMIM2', 'score': 12.01}, {'connected_gene': 'SMIM2-IT1', 'score': 12.01}, {'connected_gene': 'SMIM2-AS1', 'score': 10.99}, {'connected_gene': 'TSC22D1', 'score': 4.45}, {'connected_gene': 'ENSG00000276854', 'score': 0.77}]
chr13	GH13I044155	44155451	44156714	1.13	[{'connected_gene': 'GPALPP1', 'score': 19.73}, {'connected_gene': 'SMIM2-AS1', 'score': 13.69}, {'connected_gene': 'SMIM2-IT1', 'score': 0.77}, {'connected_gene': 'SMIM2', 'score': 0.44}, {'connected_gene': 'LINC00390', 'score': 0.44}]
chr13	GH13I044280	44280468	44282067	0.52	[{'connected_gene': 'SERP2', 'score': 10.89}, {'connected_gene': 'SMIM2', 'score': 10.43}, {'connected_gene': 'SMIM2-IT1', 'score': 10.43}, {'connected_gene': 'GC13M044260', 'score': 0.37}, {'connected_gene': 'GC13M044319', 'score': 0.26}]
chr13	GH13I044296	44296040	44297717	0.31	[{'connected_gene': 'SERP2', 'score': 17.29}, {'connected_gene': 'SMIM2', 'score': 10.13}, {'connected_gene': 'SMIM2-IT1', 'score': 10.13}, {'connected_gene': 'GC13M044319', 'score': 0.31}, {'connected_gene': 'GC13M044260', 'score': 0.29}]
chr13	GH13I044350	44350186	44351784	0.73	[{'connected_gene': 'SERP2', 'score': 11.98}, {'connected_gene': 'SMIM2', 'score': 10.32}, {'connected_gene': 'SMIM2-IT1', 'score': 10.32}, {'connected_gene': 'ENSG00000277831', 'score': 0.37}, {'connected_gene': 'GC13M044319', 'score': 0.31}]
chr13	GH13I044300	44300109	44314859	1.58	[{'connected_gene': 'SERP2', 'score': 16.39}, {'connected_gene': 'LACC1', 'score': 12.92}, {'connected_gene': 'GPALPP1', 'score': 11.25}, {'connected_gene': 'SMIM2', 'score': 10.58}, {'connected_gene': 'SMIM2-IT1', 'score': 10.58}, {'connected_gene': 'SMIM2-AS1', 'score': 5.51}, {'connected_gene': 'CCDC122', 'score': 2.95}, {'connected_gene': 'TSC22D1', 'score': 1.4}, {'connected_gene': 'GC13M044319', 'score': 0.37}, {'connected_gene': 'GC13M044260', 'score': 0.26}]
chr13	GH13I044351	44351825	44353459	0.43	[{'connected_gene': 'SERP2', 'score': 11.98}, {'connected_gene': 'SMIM2-AS1', 'score': 10.87}, {'connected_gene': 'SMIM2', 'score': 10.56}, {'connected_gene': 'SMIM2-IT1', 'score': 10.56}, {'connected_gene': 'ENSG00000277831', 'score': 0.37}, {'connected_gene': 'GC13M044319', 'score': 0.31}]
chr13	GH13I044292	44292071	44294754	1.26	[{'connected_gene': 'SERP2', 'score': 17.58}, {'connected_gene': 'SMIM2-IT1', 'score': 10.13}, {'connected_gene': 'SMIM2', 'score': 10.13}, {'connected_gene': 'LACC1', 'score': 9.67}, {'connected_gene': 'CCDC122', 'score': 3.64}, {'connected_gene': 'GC13M044260', 'score': 0.29}, {'connected_gene': 'GC13M044319', 'score': 0.29}]
chr13	GH13I044294	44294980	44295262	0.67	[{'connected_gene': 'SERP2', 'score': 17.26}, {'connected_gene': 'SMIM2-IT1', 'score': 10.13}, {'connected_gene': 'SMIM2', 'score': 10.13}, {'connected_gene': 'LACC1', 'score': 8.38}, {'connected_gene': 'CCDC122', 'score': 3.87}, {'connected_gene': 'GC13M044319', 'score': 0.31}, {'connected_gene': 'GC13M044260', 'score': 0.29}]
chr13	GH13I044145	44145762	44149182	0.59	[{'connected_gene': 'LINC00390', 'score': 550.77}, {'connected_gene': 'SMIM2-AS1', 'score': 18.07}, {'connected_gene': 'SMIM2', 'score': 0.39}, {'connected_gene': 'SMIM2-IT1', 'score': 0.39}, {'connected_gene': 'GC13P044121', 'score': 0.31}]
chr13	GH13I044103	44103518	44111199	0.87	[{'connected_gene': 'SMIM2-AS1', 'score': 13.59}, {'connected_gene': 'SMIM2', 'score': 11.4}, {'connected_gene': 'SMIM2-IT1', 'score': 11.4}, {'connected_gene': 'TSC22D1', 'score': 4.6}, {'connected_gene': 'GC13P044070', 'score': 0.28}, {'connected_gene': 'LINC00390', 'score': 0.26}]
chr13	GH13I044166	44166319	44166560	0.39	[{'connected_gene': 'SMIM2-AS1', 'score': 11.57}, {'connected_gene': 'SMIM2', 'score': 0.44}, {'connected_gene': 'ENSG00000276854', 'score': 0.31}]
chr13	GH13I044171	44171696	44172879	0.31	[{'connected_gene': 'SMIM2-AS1', 'score': 18.99}, {'connected_gene': 'SMIM2', 'score': 0.39}, {'connected_gene': 'ENSG00000276854', 'score': 0.34}]
chr13	GH13I044173	44173841	44175714	0.99	[{'connected_gene': 'SMIM2-AS1', 'score': 20.57}, {'connected_gene': 'SMIM2', 'score': 0.39}, {'connected_gene': 'ENSG00000276854', 'score': 0.34}]
chr13	GH13I044141	44140708	44144283	1.74	[{'connected_gene': 'SMIM2-AS1', 'score': 22.96}, {'connected_gene': 'LINC00390', 'score': 0.44}, {'connected_gene': 'SMIM2', 'score': 0.37}, {'connected_gene': 'GC13P044121', 'score': 0.34}]
chr13	GH13I044039	44039892	44041187	0.49	[{'connected_gene': 'SMIM2-IT1', 'score': 11.0}, {'connected_gene': 'SMIM2', 'score': 11.0}, {'connected_gene': 'SERP2', 'score': 10.32}, {'connected_gene': 'LOC105370182', 'score': 0.31}, {'connected_gene': 'GC13P044070', 'score': 0.29}]
chr13	GH13I044126	44126065	44126214	0.31	[{'connected_gene': 'SMIM2-IT1', 'score': 11.36}, {'connected_gene': 'SMIM2', 'score': 11.34}, {'connected_gene': 'SMIM2-AS1', 'score': 8.63}, {'connected_gene': 'GC13P044121', 'score': 0.44}, {'connected_gene': 'LINC00390', 'score': 0.34}]
chr13	GH13I044089	44089043	44089593	0.43	[{'connected_gene': 'SMIM2-IT1', 'score': 11.3}, {'connected_gene': 'SMIM2', 'score': 11.29}, {'connected_gene': 'GC13P044070', 'score': 0.37}, {'connected_gene': 'SMIM2-AS1', 'score': 0.34}]
chr13	GH13I044121	44121185	44121334	0.2	[{'connected_gene': 'GC13P044121', 'score': 550.77}, {'connected_gene': 'SMIM2', 'score': 11.49}, {'connected_gene': 'SMIM2-IT1', 'score': 11.49}, {'connected_gene': 'SMIM2-AS1', 'score': 0.39}, {'connected_gene': 'LINC00390', 'score': 0.31}]