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
ENST00000521654	[[125283690, 125284572], [125366356, 125366590], [125379087, 125379252], [125397802, 125398004], [125402581, 125402653], [125404009, 125413779]]	[[125283690, 125284572], [125366356, 125366590], [125379087, 125379252], [125397802, 125398004], [125402581, 125402653], [125404009, 125404083]]
ENST00000560949	[[125283861, 125284572], [125366356, 125366590], [125379087, 125379252], [125397802, 125398004], [125402581, 125402653], [125404009, 125404864]]	[[125284395, 125284572], [125366356, 125366590], [125379087, 125379252], [125397802, 125398004], [125402581, 125402653], [125404009, 125404083]]
ENST00000519565	[[125284453, 125284572], [125292646, 125292744], [125366356, 125366590], [125379087, 125379252], [125397802, 125398004], [125402581, 125402653], [125404009, 125413779]]	[[125284453, 125284572], [125292646, 125292744], [125366356, 125366375]]
ENST00000454842	[[125292400, 125292744], [125366356, 125366557]]	None
ENST00000519799	[[125304509, 125304667], [125317720, 125317801], [125327221, 125327323], [125330319, 125330428]]	[[125330422, 125330428]]
ENST00000368414	[[125304509, 125304667], [125317720, 125317801], [125366356, 125366590], [125379087, 125379252], [125397802, 125398004], [125402581, 125402653], [125404009, 125404868]]	[[125397835, 125398004], [125402581, 125402653], [125404009, 125404083]]
ENST00000359704	[[125304513, 125304667], [125317720, 125317801], [125330319, 125330428], [125366356, 125366590], [125379087, 125379252], [125397802, 125398004], [125402581, 125402653], [125403594, 125403709], [125404009, 125404661]]	[[125330422, 125330428], [125366356, 125366590], [125379087, 125379252], [125397802, 125398004], [125402581, 125402653], [125403594, 125403709], [125404009, 125404043]]
ENST00000519971	[[125284394, 125284572], [125292623, 125292719]]	None
ENST00000431104	[[125329900, 125330068], [125330319, 125330635]]	None
ENST00000432158	[[125366448, 125366590], [125367752, 125367807], [125369297, 125369405], [125379087, 125379252], [125397802, 125398004]]	[[125366448, 125366590]]
ENST00000368415	[[125367745, 125367807], [125379087, 125379252], [125397802, 125398004], [125402581, 125402653], [125404009, 125404100]]	None
ENST00000275184	[[125369357, 125369405], [125379087, 125379252], [125397802, 125398004], [125402581, 125402653], [125404009, 125404652]]	[[125369357, 125369405], [125379087, 125379252], [125397802, 125398004], [125402581, 125402653], [125404009, 125404083]]
NM_001286398	[[125283690, 125284572], [125366356, 125366590], [125379087, 125379252], [125397802, 125398004], [125402581, 125402653], [125404009, 125413780]]	[[125283690, 125284572], [125366356, 125366590], [125379087, 125379252], [125397802, 125398004], [125402581, 125402653], [125404009, 125404083]]
NR_136734	[[125283690, 125284572], [125292623, 125292744], [125366356, 125366590], [125379087, 125379252], [125397802, 125398004], [125402581, 125402653], [125404009, 125413780]]	None
NR_104440	[[125304509, 125304667], [125317720, 125317801], [125366356, 125366590], [125379087, 125379252], [125397802, 125398004], [125402581, 125402653], [125404009, 125413780]]	None
NM_152553	[[125304509, 125304667], [125317720, 125317801], [125330319, 125330428], [125366356, 125366590], [125379087, 125379252], [125397802, 125398004], [125402581, 125402653], [125403594, 125403709], [125404009, 125413780]]	[[125330422, 125330428], [125366356, 125366590], [125379087, 125379252], [125397802, 125398004], [125402581, 125402653], [125403594, 125403709], [125404009, 125404043]]

Promoter

Chrom	Start	End	Description
chr6	125283157	125283197	CAGE_peak_1_at_RNF217_5end
chr6	125283201	125283226	CAGE_peak_6_at_RNF217_5end
chr6	125283242	125283303	CAGE_peak_2_at_RNF217_5end
chr6	125283415	125283431	CAGE_peak_7_at_RNF217_5end
chr6	125283436	125283477	CAGE_peak_5_at_RNF217_5end
chr6	125283492	125283506	CAGE_peak_11_at_RNF217_5end
chr6	125283566	125283604	CAGE_peak_3_at_RNF217_5end
chr6	125284075	125284181	CAGE_peak_4_at_RNF217_5end
chr6	125284314	125284343	CAGE_peak_8_at_RNF217_5end
chr6	125284359	125284375	CAGE_peak_9_at_RNF217_5end
chr6	125284416	125284459	CAGE_peak_10_at_RNF217_5end
chr6	125304502	125304517	CAGE_peak_35_at_RNF217_5end
chr6	125367597	125367609	CAGE_peak_17_at_RNF217_5end
chr6	125367660	125367682	CAGE_peak_12_at_RNF217_5end
chr6	125367685	125367700	CAGE_peak_16_at_RNF217_5end
chr6	125367708	125367746	CAGE_peak_13_at_RNF217_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr6	GH06I125022	125022400	125022601	0.31	[{'connected_gene': 'RNF217-AS1', 'score': 0.22}, {'connected_gene': 'RNF217', 'score': 0.21}, {'connected_gene': 'GC06P125084', 'score': 0.21}]
chr6	GH06I125051	125051193	125053476	0.83	[{'connected_gene': 'TRMT11', 'score': 13.83}, {'connected_gene': 'RNF217-AS1', 'score': 11.1}, {'connected_gene': 'GC06P125084', 'score': 0.29}, {'connected_gene': 'RNF217', 'score': 0.17}]
chr6	GH06I125013	125013024	125015375	1.37	[{'connected_gene': 'TRMT11', 'score': 44.81}, {'connected_gene': 'RNF217', 'score': 33.73}, {'connected_gene': 'RNF217-AS1', 'score': 29.14}, {'connected_gene': 'GC06P125084', 'score': 0.2}]
chr6	GH06I125299	125299265	125304005	2.34	[{'connected_gene': 'HDDC2', 'score': 582.37}, {'connected_gene': 'RNF217', 'score': 18.31}, {'connected_gene': 'TRMT11', 'score': 12.17}, {'connected_gene': 'LOC100126584', 'score': 0.15}]
chr6	GH06I125769	125769027	125769608	0.6	[{'connected_gene': 'HEY2', 'score': 23.74}, {'connected_gene': 'RNF217', 'score': 11.6}, {'connected_gene': 'TRE-CTC1-7', 'score': 0.39}, {'connected_gene': 'LOC105377986', 'score': 0.34}]
chr6	GH06I125066	125066932	125067395	0.86	[{'connected_gene': 'RNF217', 'score': 10.6}, {'connected_gene': 'RNF217-AS1', 'score': 10.6}, {'connected_gene': 'HDDC2', 'score': 4.51}, {'connected_gene': 'GC06P125084', 'score': 0.37}]
chr6	GH06I124981	124981261	124982244	0.97	[{'connected_gene': 'RNF217', 'score': 9.71}, {'connected_gene': 'RNF217-AS1', 'score': 0.37}, {'connected_gene': 'GC06P125084', 'score': 0.15}]
chr6	GH06I124984	124983319	124983378	0.68	[{'connected_gene': 'RNF217', 'score': 562.01}, {'connected_gene': 'RNF217-AS1', 'score': 12.01}, {'connected_gene': 'GC06P125084', 'score': 0.15}]
chr6	GH06I124960	124960616	124966645	2.48	[{'connected_gene': 'RNF217', 'score': 572.68}, {'connected_gene': 'RNF217-AS1', 'score': 560.52}, {'connected_gene': 'GC06P125084', 'score': 0.13}]
chr6	GH06I124983	124983686	124985531	0.87	[{'connected_gene': 'RNF217', 'score': 21.3}, {'connected_gene': 'RNF217-AS1', 'score': 12.01}, {'connected_gene': 'GC06P125084', 'score': 0.15}]
chr6	GH06I124994	124994253	124996232	0.57	[{'connected_gene': 'RNF217', 'score': 23.34}, {'connected_gene': 'RNF217-AS1', 'score': 12.45}, {'connected_gene': 'GC06P125084', 'score': 0.17}]
chr6	GH06I125007	125007659	125008645	0.38	[{'connected_gene': 'RNF217', 'score': 0.25}, {'connected_gene': 'RNF217-AS1', 'score': 0.25}, {'connected_gene': 'GC06P125084', 'score': 0.18}]
chr6	GH06I125001	125001543	125002935	0.87	[{'connected_gene': 'RNF217', 'score': 6.69}, {'connected_gene': 'RNF217-AS1', 'score': 0.28}, {'connected_gene': 'GC06P125084', 'score': 0.18}]
chr6	GH06I124927	124927378	124929801	0.43	[{'connected_gene': 'RNF217', 'score': 11.63}, {'connected_gene': 'RNF217-AS1', 'score': 11.63}, {'connected_gene': 'GC06P124873', 'score': 0.22}]
chr6	GH06I124966	124966838	124968816	0.59	[{'connected_gene': 'RNF217', 'score': 11.46}, {'connected_gene': 'RNF217-AS1', 'score': 0.77}, {'connected_gene': 'GC06P125084', 'score': 0.13}]
chr6	GH06I124883	124883952	124884290	0.24	[{'connected_gene': 'RNF217', 'score': 10.89}, {'connected_gene': 'RNF217-AS1', 'score': 10.89}, {'connected_gene': 'GC06P124873', 'score': 0.39}]
chr6	GH06I125020	125020475	125020624	0.54	[{'connected_gene': 'RNF217', 'score': 0.22}, {'connected_gene': 'RNF217-AS1', 'score': 0.22}, {'connected_gene': 'GC06P125084', 'score': 0.21}]
chr6	GH06I124881	124881745	124883940	0.87	[{'connected_gene': 'RNF217', 'score': 18.34}, {'connected_gene': 'RNF217-AS1', 'score': 10.88}, {'connected_gene': 'GC06P124873', 'score': 0.44}]
chr6	GH06I125098	125098969	125105427	1.69	[{'connected_gene': 'RNF217', 'score': 4.49}, {'connected_gene': 'HDDC2', 'score': 4.48}, {'connected_gene': 'GC06P125084', 'score': 0.37}, {'connected_gene': 'TPD52L1', 'score': 0.37}]
chr6	GH06I125940	125940038	125949794	1.76	[{'connected_gene': 'RNF217', 'score': 14.33}, {'connected_gene': 'CENPW', 'score': 14.3}, {'connected_gene': 'NCOA7-AS1', 'score': 10.05}, {'connected_gene': 'LOC105377986', 'score': 9.71}, {'connected_gene': 'HEY2', 'score': 9.71}, {'connected_gene': 'NCOA7', 'score': 4.94}, {'connected_gene': 'TRMT11', 'score': 4.16}, {'connected_gene': 'PIR42096', 'score': 0.44}, {'connected_gene': 'HINT3', 'score': 0.39}]
chr6	GH06I125597	125597003	125599530	0.98	[{'connected_gene': 'RNF217', 'score': 11.6}, {'connected_gene': 'HEY2', 'score': 6.02}, {'connected_gene': 'PIR39632', 'score': 0.39}, {'connected_gene': 'LINC02523', 'score': 0.18}, {'connected_gene': 'LOC105377986', 'score': 0.1}]
chr6	GH06I124887	124887951	124889200	0.58	[{'connected_gene': 'RNF217', 'score': 6.41}, {'connected_gene': 'GC06P124873', 'score': 0.37}]
chr6	GH06I125788	125788754	125795040	2.5	[{'connected_gene': 'NCOA7', 'score': 553.8}, {'connected_gene': 'HEY2', 'score': 22.73}, {'connected_gene': 'RNF217', 'score': 14.33}, {'connected_gene': 'HINT3', 'score': 13.76}, {'connected_gene': 'NCOA7-AS1', 'score': 13.33}, {'connected_gene': 'LOC105377986', 'score': 5.08}, {'connected_gene': 'TRMT11', 'score': 1.47}]
chr6	GH06I125779	125779795	125783200	2.51	[{'connected_gene': 'NCOA7', 'score': 550.77}, {'connected_gene': 'TRE-CTC1-7', 'score': 550.77}, {'connected_gene': 'HEY2', 'score': 21.69}, {'connected_gene': 'CENPW', 'score': 20.72}, {'connected_gene': 'TRMT11', 'score': 12.61}, {'connected_gene': 'RNF217-AS1', 'score': 12.49}, {'connected_gene': 'RNF217', 'score': 9.77}, {'connected_gene': 'NCOA7-AS1', 'score': 0.28}]
chr6	GH06I125041	125041282	125044433	0.72	[{'connected_gene': 'GC06P125084', 'score': 0.26}, {'connected_gene': 'RNF217-AS1', 'score': 0.18}, {'connected_gene': 'RNF217', 'score': 0.18}]
chr6	GH06I125077	125077095	125079264	0.77	[{'connected_gene': 'GC06P125084', 'score': 0.44}, {'connected_gene': 'RNF217', 'score': 0.13}, {'connected_gene': 'RNF217-AS1', 'score': 0.13}]
chr6	GH06I125044	125044750	125048852	1.05	[{'connected_gene': 'GC06P125084', 'score': 0.28}, {'connected_gene': 'RNF217', 'score': 0.18}, {'connected_gene': 'RNF217-AS1', 'score': 0.18}]
chr6	GH06I125082	125082308	125084205	1.13	[{'connected_gene': 'GC06P125084', 'score': 550.77}, {'connected_gene': 'RNF217', 'score': 0.13}, {'connected_gene': 'RNF217-AS1', 'score': 0.13}]
chr6	GH06I125583	125583410	125587438	1.34	[{'connected_gene': 'PIR39632', 'score': 550.77}, {'connected_gene': 'RNF217', 'score': 10.28}, {'connected_gene': 'LOC105377986', 'score': 5.48}, {'connected_gene': 'HEY2', 'score': 5.34}, {'connected_gene': 'LINC02523', 'score': 0.17}]