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
ENST00000313640	[[43460523, 43462638], [43463346, 43463378], [43469144, 43469244], [43474445, 43474519], [43491676, 43491760], [43493435, 43493468], [43500471, 43500565], [43528083, 43528157], [43537390, 43537474], [43538201, 43538275], [43543229, 43543313], [43544747, 43544806], [43566113, 43566366]]	[[43462385, 43462638], [43463346, 43463378], [43469144, 43469244], [43474445, 43474519], [43491676, 43491760], [43493435, 43493468], [43500471, 43500565], [43528083, 43528157], [43537390, 43537474], [43538201, 43538275], [43543229, 43543313], [43544747, 43544806], [43566113, 43566301]]
ENST00000313624	[[43460523, 43462638], [43469144, 43469244], [43474445, 43474519], [43491676, 43491760], [43500471, 43500565], [43528083, 43528157], [43537390, 43537474], [43538201, 43538275], [43543229, 43543313], [43544747, 43544806], [43566113, 43566385]]	[[43462629, 43462638], [43469144, 43469244], [43474445, 43474519], [43491676, 43491760], [43500471, 43500565], [43528083, 43528157], [43537390, 43537474], [43538201, 43538275], [43543229, 43543313], [43544747, 43544806], [43566113, 43566301]]
ENST00000540470	[[43460523, 43462638], [43469144, 43469244], [43474445, 43474519], [43491676, 43491760], [43493435, 43493468], [43500471, 43500565], [43528083, 43528157], [43537390, 43537474], [43538201, 43538275], [43543229, 43544806], [43566113, 43566407]]	None
ENST00000398762	[[43462629, 43462638], [43469144, 43469244], [43474445, 43474519], [43491676, 43491760], [43493435, 43493468], [43500471, 43500565], [43528083, 43528157], [43537390, 43537474], [43538201, 43538275], [43543229, 43543313], [43544747, 43544806], [43566113, 43566301]]	[[43462629, 43462638], [43469144, 43469244], [43474445, 43474519], [43491676, 43491760], [43493435, 43493468], [43500471, 43500565], [43528083, 43528157], [43537390, 43537474], [43538201, 43538275], [43543229, 43543313], [43544747, 43544806], [43566113, 43566301]]
ENST00000535677	[[43469144, 43469244], [43474445, 43474519], [43491676, 43491760], [43500526, 43500565], [43528083, 43528157], [43537390, 43537474], [43537589, 43537719]]	None
ENST00000476830	[[43493439, 43493468], [43500471, 43500565], [43528083, 43528157], [43537390, 43537474], [43538201, 43538275], [43543229, 43543313], [43544747, 43544806], [43565234, 43565318], [43566113, 43566316]]	None
ENST00000537828	[[43500512, 43500565], [43528083, 43528157], [43537390, 43537474], [43538201, 43538275], [43543229, 43543313], [43544747, 43544806], [43565234, 43565367]]	[[43500512, 43500565], [43528083, 43528157], [43537390, 43537474], [43538201, 43538225]]
ENST00000538562	[[43528083, 43528157], [43537390, 43537474], [43538201, 43538275], [43543229, 43543313], [43566113, 43566371]]	[[43543258, 43543313], [43566113, 43566301]]
ENST00000542706	[[43537437, 43537474], [43538201, 43538275], [43543229, 43543313], [43543762, 43543886], [43544747, 43544806], [43565234, 43565393]]	None
ENST00000536042	[[43543609, 43543886], [43544747, 43544806], [43566113, 43566375]]	None
NM_001002264	[[43460523, 43462638], [43463346, 43463378], [43469144, 43469244], [43474445, 43474519], [43491676, 43491760], [43493435, 43493468], [43500471, 43500565], [43528083, 43528157], [43537390, 43537474], [43538201, 43538275], [43543229, 43543313], [43544747, 43544806], [43566113, 43566448]]	[[43462385, 43462638], [43463346, 43463378], [43469144, 43469244], [43474445, 43474519], [43491676, 43491760], [43493435, 43493468], [43500471, 43500565], [43528083, 43528157], [43537390, 43537474], [43538201, 43538275], [43543229, 43543313], [43544747, 43544806], [43566113, 43566301]]
NM_001330543	[[43460523, 43462638], [43469144, 43469244], [43474445, 43474519], [43491676, 43491760], [43493435, 43493468], [43500471, 43500565], [43528083, 43528157], [43537390, 43537474], [43538201, 43538275], [43543229, 43543313], [43544747, 43544806], [43566113, 43566448]]	[[43462629, 43462638], [43469144, 43469244], [43474445, 43474519], [43491676, 43491760], [43493435, 43493468], [43500471, 43500565], [43528083, 43528157], [43537390, 43537474], [43538201, 43538275], [43543229, 43543313], [43544747, 43544806], [43566113, 43566301]]
NM_033255	[[43460523, 43462638], [43469144, 43469244], [43474445, 43474519], [43491676, 43491760], [43500471, 43500565], [43528083, 43528157], [43537390, 43537474], [43538201, 43538275], [43543229, 43543313], [43544747, 43544806], [43566113, 43566448]]	[[43462629, 43462638], [43469144, 43469244], [43474445, 43474519], [43491676, 43491760], [43500471, 43500565], [43528083, 43528157], [43537390, 43537474], [43538201, 43538275], [43543229, 43543313], [43544747, 43544806], [43566113, 43566301]]
NM_001331228	[[43460523, 43462638], [43469144, 43469244], [43474445, 43474519], [43491676, 43491760], [43500471, 43500565], [43528083, 43528157], [43537390, 43537474], [43538201, 43538275], [43543229, 43543313], [43566113, 43566448]]	[[43462629, 43462638], [43469144, 43469244], [43474445, 43474519], [43491676, 43491760], [43500471, 43500565], [43528083, 43528157], [43537390, 43537474], [43538201, 43538225]]

Promoter

Chrom	Start	End	Description
chr13	43566332	43566422	CAGE_peak_1_at_EPSTI1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr13	GH13I042989	42989838	42993855	2.05	[{'connected_gene': 'EPSTI1', 'score': 565.83}, {'connected_gene': 'DNAJC15', 'score': 9.66}, {'connected_gene': 'GC13P042964', 'score': 0.31}]
chr13	GH13I043036	43036801	43037000	0.2	[{'connected_gene': 'EPSTI1', 'score': 11.27}, {'connected_gene': 'GC13P043043', 'score': 0.44}, {'connected_gene': 'GC13P043024', 'score': 0.39}, {'connected_gene': 'DNAJC15', 'score': 0.39}]
chr13	GH13I043087	43087532	43088801	0.81	[{'connected_gene': 'EPSTI1', 'score': 15.34}, {'connected_gene': 'CCDC122', 'score': 10.07}, {'connected_gene': 'LACC1', 'score': 10.07}, {'connected_gene': 'GC13P043094', 'score': 0.44}, {'connected_gene': 'GC13M043046', 'score': 0.26}, {'connected_gene': 'DNAJC15', 'score': 0.21}]
chr13	GH13I042892	42892797	42896424	0.8	[{'connected_gene': 'EPSTI1', 'score': 4.53}, {'connected_gene': 'GC13P042885', 'score': 0.44}, {'connected_gene': 'GC13P042923', 'score': 0.31}]
chr13	GH13I042889	42889862	42890205	0.25	[{'connected_gene': 'EPSTI1', 'score': 15.9}, {'connected_gene': 'GC13P042885', 'score': 0.77}, {'connected_gene': 'GC13P042923', 'score': 0.29}]
chr13	GH13I043053	43053457	43062490	1.19	[{'connected_gene': 'DNAJC15', 'score': 43.8}, {'connected_gene': 'EPSTI1', 'score': 20.07}, {'connected_gene': 'CCDC122', 'score': 4.68}, {'connected_gene': 'GC13M043046', 'score': 0.39}, {'connected_gene': 'GC13P043094', 'score': 0.28}]
chr13	GH13I042995	42995801	42998233	1.22	[{'connected_gene': 'DNAJC15', 'score': 33.83}, {'connected_gene': 'EPSTI1', 'score': 25.0}, {'connected_gene': 'LOC105370179', 'score': 0.44}]
chr13	GH13I043021	43021820	43021966	0.38	[{'connected_gene': 'DNAJC15', 'score': 550.77}, {'connected_gene': 'EPSTI1', 'score': 12.16}, {'connected_gene': 'LOC105370179', 'score': 0.37}]
chr13	GH13I043076	43076713	43078287	0.31	[{'connected_gene': 'DNAJC15', 'score': 41.89}, {'connected_gene': 'EPSTI1', 'score': 11.17}, {'connected_gene': 'GC13P043094', 'score': 0.37}, {'connected_gene': 'GC13M043046', 'score': 0.29}]
chr13	GH13I043048	43048801	43050600	0.98	[{'connected_gene': 'DNAJC15', 'score': 45.45}, {'connected_gene': 'EPSTI1', 'score': 21.98}, {'connected_gene': 'GC13M043046', 'score': 0.77}, {'connected_gene': 'GC13P043094', 'score': 0.26}]
chr13	GH13I042967	42967315	42970177	1.04	[{'connected_gene': 'DNAJC15', 'score': 22.27}, {'connected_gene': 'EPSTI1', 'score': 12.62}, {'connected_gene': 'GC13P042964', 'score': 0.77}]
chr13	GH13I042980	42980453	42983237	0.66	[{'connected_gene': 'DNAJC15', 'score': 28.36}, {'connected_gene': 'EPSTI1', 'score': 7.11}, {'connected_gene': 'GC13P042964', 'score': 0.37}]
chr13	GH13I042975	42975533	42976483	0.2	[{'connected_gene': 'DNAJC15', 'score': 7.63}, {'connected_gene': 'GC13P042964', 'score': 0.39}, {'connected_gene': 'EPSTI1', 'score': 0.37}]
chr13	GH13I042984	42984594	42986567	0.83	[{'connected_gene': 'DNAJC15', 'score': 27.21}, {'connected_gene': 'EPSTI1', 'score': 0.44}, {'connected_gene': 'GC13P042964', 'score': 0.34}]
chr13	GH13I043022	43022532	43024814	1.92	[{'connected_gene': 'DNAJC15', 'score': 628.86}, {'connected_gene': 'GC13P043024', 'score': 550.77}, {'connected_gene': 'EPSTI1', 'score': 16.91}]
chr13	GH13I042818	42818429	42818623	0.46	[{'connected_gene': 'FAM216B', 'score': 11.97}, {'connected_gene': 'EPSTI1', 'score': 3.44}, {'connected_gene': 'LINC01050', 'score': 0.44}, {'connected_gene': 'GC13P042855', 'score': 0.28}]
chr13	GH13I042816	42816987	42817042	0.43	[{'connected_gene': 'FAM216B', 'score': 11.97}, {'connected_gene': 'EPSTI1', 'score': 4.92}, {'connected_gene': 'LINC01050', 'score': 0.77}, {'connected_gene': 'GC13P042855', 'score': 0.28}]
chr13	GH13I042832	42832081	42833322	1.31	[{'connected_gene': 'FAM216B', 'score': 11.39}, {'connected_gene': 'LINC01050', 'score': 8.6}, {'connected_gene': 'EPSTI1', 'score': 4.95}, {'connected_gene': 'GC13P042855', 'score': 0.34}]
chr13	GH13I043001	43001834	43001995	0.2	[{'connected_gene': 'LOC105370179', 'score': 550.77}, {'connected_gene': 'EPSTI1', 'score': 0.44}]
chr13	GH13I043003	43002125	43002274	0.2	[{'connected_gene': 'LOC105370179', 'score': 550.77}, {'connected_gene': 'EPSTI1', 'score': 0.44}]
chr13	GH13I042875	42875387	42877709	1.26	[{'connected_gene': 'LINC01050', 'score': 6.39}, {'connected_gene': 'EPSTI1', 'score': 6.36}, {'connected_gene': 'LINC00428', 'score': 0.77}, {'connected_gene': 'GC13P042885', 'score': 0.44}]
chr13	GH13I042883	42883022	42884625	1.09	[{'connected_gene': 'GC13P042885', 'score': 550.77}, {'connected_gene': 'EPSTI1', 'score': 10.9}, {'connected_gene': 'LINC00428', 'score': 0.39}]
chr13	GH13I042970	42970865	42971200	0.79	[{'connected_gene': 'GC13P042964', 'score': 0.44}, {'connected_gene': 'EPSTI1', 'score': 0.34}]
chr13	GH13I042977	42977325	42977474	0.75	[{'connected_gene': 'GC13P042964', 'score': 0.39}, {'connected_gene': 'EPSTI1', 'score': 0.39}]
chr13	GH13I043043	43043135	43046399	1.23	[{'connected_gene': 'GC13M043046', 'score': 550.77}, {'connected_gene': 'GC13P043043', 'score': 550.77}, {'connected_gene': 'DNAJC15', 'score': 43.98}, {'connected_gene': 'EPSTI1', 'score': 16.35}, {'connected_gene': 'TNFSF11', 'score': 1.37}]
chr13	GH13I043039	43039687	43042929	0.76	[{'connected_gene': 'GC13P043043', 'score': 550.77}, {'connected_gene': 'DNAJC15', 'score': 60.77}, {'connected_gene': 'EPSTI1', 'score': 16.38}, {'connected_gene': 'GC13P043024', 'score': 0.37}]
chr13	GH13I042965	42965019	42965825	0.2	[{'connected_gene': 'GC13P042964', 'score': 550.77}, {'connected_gene': 'DNAJC15', 'score': 6.83}, {'connected_gene': 'EPSTI1', 'score': 0.31}]