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
ENST00000379638	[[112212083, 112214532], [112222711, 112222880], [112238076, 112238215], [112256859, 112256953], [112257769, 112258236]]	[[112214482, 112214532], [112222711, 112222880], [112238076, 112238215], [112256859, 112256953], [112257769, 112257887]]
ENST00000497856	[[112213781, 112214532], [112222711, 112222880], [112228146, 112228514], [112238076, 112238215], [112256859, 112257211]]	None
ENST00000513339	[[112213781, 112214532], [112238076, 112238215], [112256859, 112256953], [112257769, 112257924]]	[[112214514, 112214532], [112238076, 112238215], [112256859, 112256953], [112257769, 112257887]]
ENST00000511865	[[112214273, 112214532], [112222711, 112222880], [112228146, 112228514], [112238076, 112238215], [112256859, 112256953], [112257769, 112257927]]	[[112228469, 112228514], [112238076, 112238215], [112256859, 112256953], [112257769, 112257927]]
ENST00000545426	[[112214273, 112214532], [112222711, 112222880], [112228146, 112228514], [112238076, 112238215], [112256859, 112256953], [112257769, 112257927]]	[[112228469, 112228514], [112238076, 112238215], [112256859, 112256953], [112257769, 112257887]]
ENST00000261482	[[112214529, 112214532], [112222711, 112222880], [112238076, 112238215], [112256859, 112256953], [112257416, 112257694]]	[[112214529, 112214532], [112222711, 112222880], [112238076, 112238215], [112256859, 112256953], [112257416, 112257507]]
ENST00000474542	[[112222711, 112222880], [112238076, 112238215], [112256859, 112257201]]	None
ENST00000504247	[[112222711, 112222880], [112256859, 112256953], [112257769, 112257986]]	[[112222792, 112222880], [112256859, 112256953], [112257769, 112257887]]
NM_005669	[[112212080, 112214532], [112222711, 112222880], [112238076, 112238215], [112256859, 112256953], [112257769, 112258031]]	[[112214482, 112214532], [112222711, 112222880], [112238076, 112238215], [112256859, 112256953], [112257769, 112257887]]

Promoter

Chrom	Start	End	Description
chr5	112256899	112256959	CAGE_peak_3_at_REEP5_5end
chr5	112257914	112257992	CAGE_peak_1_at_REEP5_5end
chr5	112258000	112258015	CAGE_peak_2_at_REEP5_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr5	GH05I112920	112920303	112925534	2.23	[{'connected_gene': 'REEP5', 'score': 565.88}, {'connected_gene': 'LOC105379123', 'score': 550.77}, {'connected_gene': 'SRP19', 'score': 20.01}, {'connected_gene': 'YTHDC2', 'score': 16.45}, {'connected_gene': 'ENSG00000251187', 'score': 4.06}, {'connected_gene': 'GC05P112932', 'score': 0.44}]
chr5	GH05I112915	112915944	112916093	0.38	[{'connected_gene': 'REEP5', 'score': 0.44}, {'connected_gene': 'LOC105379123', 'score': 0.44}, {'connected_gene': 'ENSG00000272389', 'score': 0.37}]
chr5	GH05I112916	112916238	112916500	0.31	[{'connected_gene': 'REEP5', 'score': 11.81}, {'connected_gene': 'LOC105379123', 'score': 0.44}, {'connected_gene': 'ENSG00000272389', 'score': 0.37}]
chr5	GH05I112771	112771179	112772663	0.2	[{'connected_gene': 'REEP5', 'score': 12.52}, {'connected_gene': 'CBX3P3', 'score': 0.44}, {'connected_gene': 'APC', 'score': 0.21}]
chr5	GH05I112863	112863401	112863600	0.52	[{'connected_gene': 'SRP19', 'score': 22.29}, {'connected_gene': 'REEP5', 'score': 10.34}, {'connected_gene': 'ENSG00000272869', 'score': 0.77}, {'connected_gene': 'GC05P112886', 'score': 0.34}, {'connected_gene': 'XBP1P1', 'score': 0.34}, {'connected_gene': 'ENSG00000258864', 'score': 0.28}]
chr5	GH05I112878	112878075	112879238	0.81	[{'connected_gene': 'SRP19', 'score': 35.8}, {'connected_gene': 'REEP5', 'score': 6.73}, {'connected_gene': 'APC', 'score': 5.38}, {'connected_gene': 'GC05P112886', 'score': 0.44}, {'connected_gene': 'XBP1P1', 'score': 0.44}, {'connected_gene': 'ENSG00000272869', 'score': 0.37}]
chr5	GH05I112926	112926729	112930868	1.35	[{'connected_gene': 'SRP19', 'score': 11.39}, {'connected_gene': 'APC', 'score': 5.37}, {'connected_gene': 'GC05P112932', 'score': 0.77}, {'connected_gene': 'REEP5', 'score': 0.44}, {'connected_gene': 'LOC105379123', 'score': 0.44}]
chr5	GH05I112962	112962858	112964764	1.14	[{'connected_gene': 'YTHDC2', 'score': 42.78}, {'connected_gene': 'SRP19', 'score': 15.46}, {'connected_gene': 'SNORA13', 'score': 12.19}, {'connected_gene': 'REEP5', 'score': 4.69}, {'connected_gene': 'GC05M112939', 'score': 0.77}, {'connected_gene': 'LOC105379126', 'score': 0.39}]
chr5	GH05I113033	113033503	113035566	0.69	[{'connected_gene': 'YTHDC2', 'score': 10.0}, {'connected_gene': 'MCC', 'score': 6.32}, {'connected_gene': 'DCP2', 'score': 5.17}, {'connected_gene': 'REEP5', 'score': 4.84}, {'connected_gene': 'GC05P113027', 'score': 0.44}, {'connected_gene': 'GC05M113056', 'score': 0.29}]
chr5	GH05I112694	112694853	112695752	0.88	[{'connected_gene': 'EPB41L4A', 'score': 9.11}, {'connected_gene': 'REEP5', 'score': 4.74}, {'connected_gene': 'APC', 'score': 0.39}, {'connected_gene': 'LOC102467216', 'score': 0.39}]
chr5	GH05I112706	112706520	112709582	2.04	[{'connected_gene': 'APC', 'score': 559.61}, {'connected_gene': 'REEP5', 'score': 10.69}, {'connected_gene': 'YTHDC2', 'score': 10.08}, {'connected_gene': 'RNU6-482P', 'score': 10.07}, {'connected_gene': 'CBX3P3', 'score': 10.07}, {'connected_gene': 'ZRSR2P1', 'score': 4.97}]
chr5	GH05I112737	112737058	112738763	2.02	[{'connected_gene': 'APC', 'score': 557.24}, {'connected_gene': 'REEP5', 'score': 11.8}, {'connected_gene': 'YTHDC2', 'score': 9.95}, {'connected_gene': 'CBX3P3', 'score': 0.26}]
chr5	GH05I113069	113069344	113070128	0.38	[{'connected_gene': 'MCC', 'score': 5.57}, {'connected_gene': 'REEP5', 'score': 4.01}, {'connected_gene': 'GC05M113056', 'score': 0.77}, {'connected_gene': 'GC05P113074', 'score': 0.77}]
chr5	GH05I113092	113091876	113092923	0.43	[{'connected_gene': 'MCC', 'score': 7.05}, {'connected_gene': 'REEP5', 'score': 4.0}, {'connected_gene': 'PIR57646', 'score': 0.44}, {'connected_gene': 'PIR39781', 'score': 0.37}]
chr5	GH05I113081	113081103	113082944	0.85	[{'connected_gene': 'MCC', 'score': 6.19}, {'connected_gene': 'DCP2', 'score': 4.39}, {'connected_gene': 'REEP5', 'score': 4.15}, {'connected_gene': 'PIR57646', 'score': 0.77}, {'connected_gene': 'GC05P113074', 'score': 0.44}]
chr5	GH05I113093	113093047	113094632	0.54	[{'connected_gene': 'MCC', 'score': 5.97}, {'connected_gene': 'DCP2', 'score': 4.89}, {'connected_gene': 'REEP5', 'score': 3.99}, {'connected_gene': 'PIR57646', 'score': 0.44}, {'connected_gene': 'PIR39781', 'score': 0.37}]
chr5	GH05I113061	113061348	113065086	0.51	[{'connected_gene': 'DCP2', 'score': 7.82}, {'connected_gene': 'MCC', 'score': 7.02}, {'connected_gene': 'ENSG00000272389', 'score': 4.27}, {'connected_gene': 'REEP5', 'score': 4.01}, {'connected_gene': 'GC05M113056', 'score': 0.77}, {'connected_gene': 'GC05P113027', 'score': 0.28}]
chr5	GH05I112683	112683787	112686425	0.95	[{'connected_gene': 'ZRSR2P1', 'score': 11.47}, {'connected_gene': 'REEP5', 'score': 9.89}, {'connected_gene': 'DCP2', 'score': 5.6}, {'connected_gene': 'LOC102467216', 'score': 0.77}, {'connected_gene': 'APC', 'score': 0.34}]
chr5	GH05I112882	112882990	112883566	0.71	[{'connected_gene': 'GC05P112886', 'score': 550.77}, {'connected_gene': 'XBP1P1', 'score': 550.77}, {'connected_gene': 'SRP19', 'score': 35.77}, {'connected_gene': 'REEP5', 'score': 14.33}, {'connected_gene': 'APC', 'score': 1.45}, {'connected_gene': 'ENSG00000272869', 'score': 0.34}]
chr5	GH05I112795	112795453	112796519	0.75	[{'connected_gene': 'GC05P112797', 'score': 550.77}, {'connected_gene': 'SRP19', 'score': 10.6}, {'connected_gene': 'REEP5', 'score': 10.32}, {'connected_gene': 'APC', 'score': 8.15}, {'connected_gene': 'RNU6-482P', 'score': 0.37}]
chr5	GH05I112958	112958058	112962255	1.14	[{'connected_gene': 'GC05M112939', 'score': 550.77}, {'connected_gene': 'SRP19', 'score': 18.34}, {'connected_gene': 'YTHDC2', 'score': 9.69}, {'connected_gene': 'REEP5', 'score': 4.7}, {'connected_gene': 'LOC105379126', 'score': 0.37}]
chr5	GH05I113067	113067027	113068813	0.58	[{'connected_gene': 'GC05M113056', 'score': 550.77}, {'connected_gene': 'MCC', 'score': 5.81}, {'connected_gene': 'REEP5', 'score': 3.99}, {'connected_gene': 'GC05P113074', 'score': 0.44}]