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
ENST00000221130	[[30535582, 30537186], [30538420, 30538554], [30539446, 30539578], [30541604, 30541716], [30546677, 30546836], [30550485, 30550572], [30553896, 30553996], [30557597, 30557652], [30560609, 30560757], [30565588, 30565658], [30567330, 30567419], [30569578, 30569605], [30585046, 30585443]]	[[30537036, 30537186], [30538420, 30538554], [30539446, 30539578], [30541604, 30541716], [30546677, 30546836], [30550485, 30550572], [30553896, 30553996], [30557597, 30557652], [30560609, 30560757], [30565588, 30565658], [30567330, 30567419], [30569578, 30569605], [30585046, 30585352]]
ENST00000414019	[[30535583, 30537186], [30538420, 30538554], [30539446, 30539578], [30541604, 30541716], [30546677, 30546836], [30550485, 30550572], [30553896, 30553996], [30557597, 30557652], [30560609, 30560757], [30565588, 30565658], [30567330, 30567419], [30569578, 30569605], [30585046, 30585223]]	[[30537036, 30537186], [30538420, 30538554], [30539446, 30539578], [30541604, 30541716], [30546677, 30546836], [30550485, 30550572], [30553896, 30553996], [30557597, 30557652], [30560609, 30560757], [30565588, 30565658], [30567330, 30567419], [30569578, 30569605], [30585046, 30585223]]
ENST00000537535	[[30537036, 30537186], [30538420, 30538554], [30539446, 30539578], [30541604, 30541716], [30553896, 30553996], [30557597, 30557652], [30560609, 30560757], [30565588, 30565658], [30567330, 30567419], [30569578, 30569605], [30585046, 30585352]]	[[30537036, 30537186], [30538420, 30538554], [30539446, 30539578], [30541604, 30541716], [30553896, 30553996], [30557597, 30557652], [30560609, 30560757], [30565588, 30565658], [30567330, 30567419], [30569578, 30569605], [30585046, 30585352]]
ENST00000546342	[[30537036, 30537186], [30538420, 30538554], [30539446, 30539578], [30541604, 30541716], [30546677, 30546836], [30553896, 30553996], [30557597, 30557652], [30560609, 30560757], [30565588, 30565658], [30567330, 30567419], [30569578, 30569605], [30585046, 30585352]]	[[30537036, 30537186], [30538420, 30538554], [30539446, 30539578], [30541604, 30541716], [30546677, 30546836], [30553896, 30553996], [30557597, 30557652], [30560609, 30560757], [30565588, 30565658], [30567330, 30567419], [30569578, 30569605], [30585046, 30585352]]
ENST00000541648	[[30537036, 30537186], [30538420, 30538554], [30539446, 30539578], [30541604, 30541716], [30550485, 30550572], [30553896, 30553996], [30557597, 30557652], [30560609, 30560757], [30565588, 30565658], [30567330, 30567419], [30569578, 30569605], [30585046, 30585352]]	[[30537036, 30537186], [30538420, 30538554], [30539446, 30539578], [30541604, 30541716], [30550485, 30550572], [30553896, 30553996], [30557597, 30557652], [30560609, 30560757], [30565588, 30565658], [30567330, 30567419], [30569578, 30569605], [30585046, 30585352]]
ENST00000523295	[[30539447, 30539578], [30541604, 30541716], [30546677, 30546836], [30550485, 30550572], [30553896, 30553996], [30565588, 30565658], [30567330, 30567419], [30569578, 30569605], [30585046, 30585184]]	[[30553924, 30553996], [30565588, 30565658], [30567330, 30567419], [30569578, 30569605], [30585046, 30585184]]
ENST00000520888	[[30546678, 30546836], [30550485, 30550572], [30553896, 30553990], [30557597, 30557652], [30560609, 30560757], [30565588, 30565658], [30567330, 30567419], [30569578, 30569605], [30585046, 30585218]]	[[30546678, 30546836], [30550485, 30550572], [30553896, 30553990], [30557597, 30557652], [30560609, 30560757], [30565588, 30565658], [30567330, 30567419], [30569578, 30569605], [30585046, 30585218]]
ENST00000521479	[[30553921, 30553996], [30557597, 30557652], [30560609, 30560757], [30565588, 30565658], [30567330, 30567419], [30569578, 30569605], [30584409, 30584527]]	[[30553921, 30553996], [30557597, 30557652], [30560609, 30560757], [30565588, 30565658], [30567330, 30567416]]
NM_000637	[[30535577, 30537186], [30538420, 30538554], [30539446, 30539578], [30541604, 30541716], [30546677, 30546836], [30550485, 30550572], [30553896, 30553996], [30557597, 30557652], [30560609, 30560757], [30565588, 30565658], [30567330, 30567419], [30569578, 30569605], [30585046, 30585486]]	[[30537036, 30537186], [30538420, 30538554], [30539446, 30539578], [30541604, 30541716], [30546677, 30546836], [30550485, 30550572], [30553896, 30553996], [30557597, 30557652], [30560609, 30560757], [30565588, 30565658], [30567330, 30567419], [30569578, 30569605], [30585046, 30585352]]
NM_001195103	[[30535577, 30537186], [30538420, 30538554], [30539446, 30539578], [30541604, 30541716], [30550485, 30550572], [30553896, 30553996], [30557597, 30557652], [30560609, 30560757], [30565588, 30565658], [30567330, 30567419], [30569578, 30569605], [30585046, 30585486]]	[[30537036, 30537186], [30538420, 30538554], [30539446, 30539578], [30541604, 30541716], [30550485, 30550572], [30553896, 30553996], [30557597, 30557652], [30560609, 30560757], [30565588, 30565658], [30567330, 30567419], [30569578, 30569605], [30585046, 30585352]]
NM_001195102	[[30535577, 30537186], [30538420, 30538554], [30539446, 30539578], [30541604, 30541716], [30546677, 30546836], [30553896, 30553996], [30557597, 30557652], [30560609, 30560757], [30565588, 30565658], [30567330, 30567419], [30569578, 30569605], [30585046, 30585486]]	[[30537036, 30537186], [30538420, 30538554], [30539446, 30539578], [30541604, 30541716], [30546677, 30546836], [30553896, 30553996], [30557597, 30557652], [30560609, 30560757], [30565588, 30565658], [30567330, 30567419], [30569578, 30569605], [30585046, 30585352]]
NM_001195104	[[30535577, 30537186], [30538420, 30538554], [30539446, 30539578], [30541604, 30541716], [30553896, 30553996], [30557597, 30557652], [30560609, 30560757], [30565588, 30565658], [30567330, 30567419], [30569578, 30569605], [30585046, 30585486]]	[[30537036, 30537186], [30538420, 30538554], [30539446, 30539578], [30541604, 30541716], [30553896, 30553996], [30557597, 30557652], [30560609, 30560757], [30565588, 30565658], [30567330, 30567419], [30569578, 30569605], [30585046, 30585352]]

Promoter

Chrom	Start	End	Description
chr8	30584492	30584503	CAGE_peak_10_at_GSR_5end
chr8	30584507	30584514	CAGE_peak_13_at_GSR_5end
chr8	30584524	30584529	CAGE_peak_14_at_GSR_5end
chr8	30584533	30584543	CAGE_peak_9_at_GSR_5end
chr8	30585189	30585200	CAGE_peak_5_at_GSR_5end
chr8	30585217	30585254	CAGE_peak_2_at_GSR_5end
chr8	30585268	30585288	CAGE_peak_4_at_GSR_5end
chr8	30585294	30585386	CAGE_peak_1_at_GSR_5end
chr8	30585398	30585407	CAGE_peak_7_at_GSR_5end
chr8	30585439	30585494	CAGE_peak_3_at_GSR_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr8	GH08I030719	30719539	30721199	0.83	[{'connected_gene': 'UBXN8', 'score': 7.88}, {'connected_gene': 'ENSG00000272375', 'score': 4.52}, {'connected_gene': 'GSR', 'score': 0.44}, {'connected_gene': 'GTF2E2', 'score': 0.21}]
chr8	GH08I030714	30714904	30715638	0.49	[{'connected_gene': 'UBXN8', 'score': 9.68}, {'connected_gene': 'GSR', 'score': 0.39}, {'connected_gene': 'GTF2E2', 'score': 0.22}]
chr8	GH08I030742	30742910	30745373	2.26	[{'connected_gene': 'UBXN8', 'score': 558.46}, {'connected_gene': 'GC08M030742', 'score': 550.77}, {'connected_gene': 'LOC105379355', 'score': 550.77}, {'connected_gene': 'WRN', 'score': 13.11}, {'connected_gene': 'GTF2E2', 'score': 11.56}, {'connected_gene': 'RPS15AP24', 'score': 10.83}, {'connected_gene': 'PPP2CB', 'score': 10.77}, {'connected_gene': 'RNU5A-3P', 'score': 10.06}, {'connected_gene': 'GSR', 'score': 9.73}]
chr8	GH08I030710	30710396	30711578	0.38	[{'connected_gene': 'PPP2CB', 'score': 10.45}, {'connected_gene': 'UBXN8', 'score': 9.52}, {'connected_gene': 'GSR', 'score': 0.37}, {'connected_gene': 'GTF2E2', 'score': 0.23}]
chr8	GH08I030807	30807665	30808501	0.2	[{'connected_gene': 'PPP2CB', 'score': 13.4}, {'connected_gene': 'GSR', 'score': 6.27}, {'connected_gene': 'PIR42776', 'score': 0.39}]
chr8	GH08I030666	30666964	30667093	0.62	[{'connected_gene': 'GTF2E2', 'score': 0.44}, {'connected_gene': 'GSR', 'score': 0.21}]
chr8	GH08I030721	30721705	30731980	2.42	[{'connected_gene': 'GSR', 'score': 560.49}, {'connected_gene': 'UBXN8', 'score': 8.91}, {'connected_gene': 'ENSG00000272375', 'score': 4.77}, {'connected_gene': 'GTF2E2', 'score': 4.47}, {'connected_gene': 'RBPMS-AS1', 'score': 4.37}]
chr8	GH08I030737	30737202	30737468	0.55	[{'connected_gene': 'GSR', 'score': 9.05}, {'connected_gene': 'PIR49055', 'score': 0.77}, {'connected_gene': 'UBXN8', 'score': 0.44}, {'connected_gene': 'LOC105379355', 'score': 0.44}]
chr8	GH08I030775	30775226	30775684	0.2	[{'connected_gene': 'GSR', 'score': 6.58}, {'connected_gene': 'ENSG00000271081', 'score': 0.34}, {'connected_gene': 'PIR42776', 'score': 0.34}, {'connected_gene': 'PPP2CB', 'score': 0.28}]
chr8	GH08I030716	30716005	30716828	0.66	[{'connected_gene': 'GSR', 'score': 0.39}, {'connected_gene': 'GTF2E2', 'score': 0.22}]
chr8	GH08I030697	30697469	30700653	0.72	[{'connected_gene': 'GSR', 'score': 0.31}, {'connected_gene': 'GTF2E2', 'score': 0.26}]
chr8	GH08I030688	30688130	30689713	0.43	[{'connected_gene': 'GSR', 'score': 10.44}, {'connected_gene': 'GTF2E2', 'score': 0.29}]
chr8	GH08I030964	30963026	30963170	0.33	[{'connected_gene': 'GSR', 'score': 4.51}, {'connected_gene': 'LPGAT1P1', 'score': 0.34}, {'connected_gene': 'ENSG00000253204', 'score': 0.26}]
chr8	GH08I030403	30403024	30409081	1.02	[{'connected_gene': 'RBPMS-AS1', 'score': 13.59}, {'connected_gene': 'PURG', 'score': 5.02}, {'connected_gene': 'GSR', 'score': 4.81}, {'connected_gene': 'RBPMS', 'score': 0.34}, {'connected_gene': 'PIR31328', 'score': 0.11}]
chr8	GH08I030702	30702430	30703643	0.49	[{'connected_gene': 'RBPMS-AS1', 'score': 4.31}, {'connected_gene': 'GSR', 'score': 0.34}, {'connected_gene': 'GTF2E2', 'score': 0.26}]
chr8	GH08I030704	30704124	30704948	0.31	[{'connected_gene': 'RBPMS-AS1', 'score': 4.59}, {'connected_gene': 'GSR', 'score': 0.34}, {'connected_gene': 'GTF2E2', 'score': 0.25}]
chr8	GH08I030743	30742519	30742833	0.65	[{'connected_gene': 'GC08M030742', 'score': 550.77}, {'connected_gene': 'LOC105379355', 'score': 550.77}, {'connected_gene': 'PPP2CB', 'score': 10.77}, {'connected_gene': 'RNU5A-3P', 'score': 10.06}, {'connected_gene': 'GSR', 'score': 8.86}, {'connected_gene': 'PIR49055', 'score': 0.44}, {'connected_gene': 'UBXN8', 'score': 0.39}]