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
ENST00000561428	[[49280672, 49280818], [49284994, 49285123], [49288563, 49288686]]	[[49280783, 49280818], [49284994, 49285123], [49288563, 49288686]]
ENST00000559471	[[49280834, 49285123], [49288563, 49288783], [49292029, 49292184], [49293073, 49293294], [49301412, 49301575], [49303927, 49304060], [49304844, 49305014], [49308756, 49308898], [49309044, 49309212], [49309744, 49309825], [49311614, 49311749], [49319561, 49319677], [49320340, 49320365], [49320649, 49320879], [49325161, 49325297], [49327530, 49327855], [49329787, 49329966], [49338472, 49338760]]	[[49284440, 49285123], [49288563, 49288783], [49292029, 49292184], [49293073, 49293294], [49301412, 49301575], [49303927, 49304060], [49304844, 49305014], [49308756, 49308898], [49309044, 49309212], [49309744, 49309825], [49311614, 49311749], [49319561, 49319677], [49320340, 49320365], [49320649, 49320879], [49325161, 49325297], [49327530, 49327855], [49329787, 49329966], [49338472, 49338496]]
ENST00000261847	[[49280966, 49285123], [49288563, 49288783], [49292029, 49292184], [49293073, 49293294], [49301412, 49301575], [49303927, 49304060], [49304844, 49305014], [49308756, 49308898], [49309044, 49309212], [49309744, 49309825], [49319561, 49319677], [49320340, 49320365], [49320649, 49320879], [49325161, 49325297], [49327530, 49327855], [49329787, 49329966], [49338472, 49338630]]	[[49284440, 49285123], [49288563, 49288783], [49292029, 49292184], [49293073, 49293294], [49301412, 49301575], [49303927, 49304060], [49304844, 49305014], [49308756, 49308898], [49309044, 49309212], [49309744, 49309825], [49319561, 49319677], [49320340, 49320365], [49320649, 49320879], [49325161, 49325297], [49327530, 49327855], [49329787, 49329966], [49338472, 49338496]]
ENST00000380927	[[49288580, 49288783], [49292029, 49292184], [49293073, 49293294], [49301412, 49301575], [49303927, 49304060], [49304844, 49305014], [49308756, 49308898], [49309044, 49309212], [49309744, 49309825], [49311614, 49311749], [49319561, 49319677], [49320340, 49320365], [49320649, 49320879], [49325161, 49325297], [49327530, 49327653], [49329787, 49329966], [49338472, 49338643]]	[[49288580, 49288783], [49292029, 49292184], [49293073, 49293294], [49301412, 49301575], [49303927, 49304060], [49304844, 49305014], [49308756, 49308898], [49309044, 49309212], [49309744, 49309825], [49311614, 49311749], [49319561, 49319677], [49320340, 49320365], [49320649, 49320829]]
ENST00000559122	[[49292116, 49292184], [49293073, 49293294], [49293887, 49294138]]	None
ENST00000559198	[[49303743, 49304060], [49304844, 49305338]]	None
ENST00000561203	[[49308632, 49308898], [49309044, 49309250]]	None
ENST00000557940	[[49309113, 49309212], [49309744, 49309825], [49311614, 49311844]]	None
ENST00000559424	[[49309143, 49309212], [49309744, 49309825], [49319561, 49319677], [49320340, 49320365], [49320649, 49320684], [49325215, 49325297], [49327530, 49327855], [49329787, 49329966], [49338472, 49338644]]	[[49309143, 49309212], [49309744, 49309825], [49319561, 49319677], [49320340, 49320365], [49320649, 49320684], [49325215, 49325297], [49327530, 49327855], [49329787, 49329966], [49338472, 49338496]]
ENST00000558461	[[49309148, 49309212], [49309744, 49309990]]	None
ENST00000557923	[[49329591, 49329966], [49338472, 49338643]]	None
NM_001193489	[[49280834, 49285123], [49288563, 49288783], [49292029, 49292184], [49293073, 49293294], [49301412, 49301575], [49303927, 49304060], [49304844, 49305014], [49308756, 49308898], [49309044, 49309212], [49309744, 49309825], [49311614, 49311749], [49319561, 49319677], [49320340, 49320365], [49320649, 49320879], [49325161, 49325297], [49327530, 49327855], [49329787, 49329966], [49338472, 49338760]]	[[49284440, 49285123], [49288563, 49288783], [49292029, 49292184], [49293073, 49293294], [49301412, 49301575], [49303927, 49304060], [49304844, 49305014], [49308756, 49308898], [49309044, 49309212], [49309744, 49309825], [49311614, 49311749], [49319561, 49319677], [49320340, 49320365], [49320649, 49320879], [49325161, 49325297], [49327530, 49327855], [49329787, 49329966], [49338472, 49338496]]
NM_014701	[[49280834, 49285123], [49288563, 49288783], [49292029, 49292184], [49293073, 49293294], [49301412, 49301575], [49303927, 49304060], [49304844, 49305014], [49308756, 49308898], [49309044, 49309212], [49309744, 49309825], [49319561, 49319677], [49320340, 49320365], [49320649, 49320879], [49325161, 49325297], [49327530, 49327855], [49329787, 49329966], [49338472, 49338760]]	[[49284440, 49285123], [49288563, 49288783], [49292029, 49292184], [49293073, 49293294], [49301412, 49301575], [49303927, 49304060], [49304844, 49305014], [49308756, 49308898], [49309044, 49309212], [49309744, 49309825], [49319561, 49319677], [49320340, 49320365], [49320649, 49320879], [49325161, 49325297], [49327530, 49327855], [49329787, 49329966], [49338472, 49338496]]

Promoter

Chrom	Start	End	Description
chr15	49338624	49338700	CAGE_peak_1_at_SECISBP2L_5end
chr15	49338704	49338715	CAGE_peak_2_at_SECISBP2L_5end
chr15	49338748	49338765	CAGE_peak_3_at_SECISBP2L_5end
chr15	49338960	49338965	CAGE_peak_4_at_SECISBP2L_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr15	GH15I048982	48982124	48982273	0.31	[{'connected_gene': 'SECISBP2L', 'score': 11.37}, {'connected_gene': 'GC15P048991', 'score': 0.44}, {'connected_gene': 'KRT8P24', 'score': 0.39}]
chr15	GH15I049044	49044400	49047226	2.11	[{'connected_gene': 'SECISBP2L', 'score': 555.78}, {'connected_gene': 'DTWD1', 'score': 14.82}, {'connected_gene': 'CEP152', 'score': 12.14}, {'connected_gene': 'DUT', 'score': 10.71}, {'connected_gene': 'SHC4', 'score': 10.46}, {'connected_gene': 'ENSG00000259488', 'score': 10.39}, {'connected_gene': 'RN7SL577P', 'score': 0.77}]
chr15	GH15I049082	49082544	49084607	0.43	[{'connected_gene': 'SECISBP2L', 'score': 15.59}, {'connected_gene': 'SHC4', 'score': 15.37}, {'connected_gene': 'GC15P049080', 'score': 0.77}, {'connected_gene': 'ENSG00000259656', 'score': 0.37}]
chr15	GH15I049065	49065860	49067376	0.52	[{'connected_gene': 'SECISBP2L', 'score': 16.92}, {'connected_gene': 'SHC4', 'score': 9.54}, {'connected_gene': 'GC15P049080', 'score': 0.39}]
chr15	GH15I049270	49270644	49271972	0.31	[{'connected_gene': 'SECISBP2L', 'score': 10.42}, {'connected_gene': 'GALK2', 'score': 6.57}, {'connected_gene': 'FGF7', 'score': 6.27}, {'connected_gene': 'FAM227B', 'score': 4.67}, {'connected_gene': 'PIR52968', 'score': 0.28}, {'connected_gene': 'ENSG00000275580', 'score': 0.19}, {'connected_gene': 'GC15P049181', 'score': 0.16}]
chr15	GH15I049315	49315375	49316313	0.31	[{'connected_gene': 'SECISBP2L', 'score': 10.4}, {'connected_gene': 'FGF7', 'score': 6.32}, {'connected_gene': 'ENSG00000275580', 'score': 0.31}, {'connected_gene': 'PIR52968', 'score': 0.18}, {'connected_gene': 'GC15P049181', 'score': 0.12}, {'connected_gene': 'GALK2', 'score': 0.1}]
chr15	GH15I049445	49445815	49450922	0.31	[{'connected_gene': 'SECISBP2L', 'score': 8.68}, {'connected_gene': 'FGF7', 'score': 8.49}, {'connected_gene': 'FAM227B', 'score': 7.42}, {'connected_gene': 'GALK2', 'score': 4.2}, {'connected_gene': 'LOC105370811', 'score': 0.26}]
chr15	GH15I049237	49237984	49239489	0.49	[{'connected_gene': 'SECISBP2L', 'score': 10.42}, {'connected_gene': 'FGF7', 'score': 6.02}, {'connected_gene': 'FAM227B', 'score': 5.62}, {'connected_gene': 'GALK2', 'score': 5.1}, {'connected_gene': 'PIR52968', 'score': 0.77}, {'connected_gene': 'GC15P049181', 'score': 0.22}, {'connected_gene': 'ENSG00000275580', 'score': 0.15}]
chr15	GH15I049455	49455605	49457202	0.31	[{'connected_gene': 'SECISBP2L', 'score': 10.03}, {'connected_gene': 'FAM227B', 'score': 7.2}, {'connected_gene': 'GALK2', 'score': 4.08}, {'connected_gene': 'FGF7', 'score': 0.29}, {'connected_gene': 'LOC105370811', 'score': 0.29}]
chr15	GH15I049242	49242118	49243771	0.64	[{'connected_gene': 'SECISBP2L', 'score': 10.34}, {'connected_gene': 'FAM227B', 'score': 5.63}, {'connected_gene': 'PIR52968', 'score': 0.44}, {'connected_gene': 'GC15P049181', 'score': 0.21}, {'connected_gene': 'GALK2', 'score': 0.17}, {'connected_gene': 'ENSG00000275580', 'score': 0.15}]
chr15	GH15I049096	49096094	49097173	0.63	[{'connected_gene': 'SECISBP2L', 'score': 5.34}, {'connected_gene': 'ENSG00000259656', 'score': 0.44}, {'connected_gene': 'GC15P049080', 'score': 0.37}]
chr15	GH15I049154	49154135	49157201	2.09	[{'connected_gene': 'COPS2', 'score': 574.11}, {'connected_gene': 'NDUFAF4P1', 'score': 550.77}, {'connected_gene': 'GALK2', 'score': 550.77}, {'connected_gene': 'DTWD1', 'score': 38.03}, {'connected_gene': 'DUT', 'score': 22.44}, {'connected_gene': 'ENSG00000259488', 'score': 13.69}, {'connected_gene': 'CEP152', 'score': 13.04}, {'connected_gene': 'FGF7', 'score': 10.96}, {'connected_gene': 'SECISBP2L', 'score': 10.74}, {'connected_gene': 'FAM227B', 'score': 5.64}]
chr15	GH15I048984	48984097	48985570	0.58	[{'connected_gene': 'SHC4', 'score': 18.8}, {'connected_gene': 'SECISBP2L', 'score': 11.3}, {'connected_gene': 'FAM227B', 'score': 5.39}, {'connected_gene': 'GC15P048991', 'score': 0.44}, {'connected_gene': 'KRT8P24', 'score': 0.39}]
chr15	GH15I048939	48939095	48941656	0.85	[{'connected_gene': 'SHC4', 'score': 12.32}, {'connected_gene': 'SECISBP2L', 'score': 10.14}, {'connected_gene': 'ENSG00000259602', 'score': 0.77}, {'connected_gene': 'GC15P048919', 'score': 0.34}]
chr15	GH15I049063	49063394	49064513	0.86	[{'connected_gene': 'SHC4', 'score': 9.54}, {'connected_gene': 'SECISBP2L', 'score': 5.68}, {'connected_gene': 'GC15P049080', 'score': 0.37}]
chr15	GH15I049060	49060089	49061517	0.74	[{'connected_gene': 'SHC4', 'score': 9.99}, {'connected_gene': 'SECISBP2L', 'score': 4.49}, {'connected_gene': 'GC15P049080', 'score': 0.37}]
chr15	GH15I049075	49075341	49077141	0.2	[{'connected_gene': 'SHC4', 'score': 11.25}, {'connected_gene': 'GC15P049080', 'score': 0.77}, {'connected_gene': 'SECISBP2L', 'score': 0.31}]
chr15	GH15I049036	49036984	49037133	0.57	[{'connected_gene': 'SHC4', 'score': 9.92}, {'connected_gene': 'CEP152', 'score': 9.23}, {'connected_gene': 'SECISBP2L', 'score': 0.44}, {'connected_gene': 'RN7SL577P', 'score': 0.44}, {'connected_gene': 'GC15P049001', 'score': 0.28}]
chr15	GH15I048896	48896515	48898701	1.11	[{'connected_gene': 'SHC4', 'score': 11.27}, {'connected_gene': 'CEP152', 'score': 4.49}, {'connected_gene': 'SECISBP2L', 'score': 4.42}, {'connected_gene': 'GC15P048891', 'score': 0.44}, {'connected_gene': 'GC15P048919', 'score': 0.34}]
chr15	GH15I049035	49035884	49036093	0.74	[{'connected_gene': 'SHC4', 'score': 16.62}, {'connected_gene': 'CEP152', 'score': 9.23}, {'connected_gene': 'RN7SL577P', 'score': 0.44}, {'connected_gene': 'SECISBP2L', 'score': 0.39}, {'connected_gene': 'GC15P049001', 'score': 0.29}]
chr15	GH15I049169	49169217	49172656	2.05	[{'connected_gene': 'GALK2', 'score': 556.97}, {'connected_gene': 'MIR4716', 'score': 550.77}, {'connected_gene': 'SECISBP2L', 'score': 10.72}, {'connected_gene': 'FGF7', 'score': 6.23}, {'connected_gene': 'FAM227B', 'score': 5.55}, {'connected_gene': 'RPL15P19', 'score': 0.44}]
chr15	GH15I049421	49421945	49426600	2.16	[{'connected_gene': 'FGF7', 'score': 569.04}, {'connected_gene': 'DTWD1', 'score': 16.6}, {'connected_gene': 'COPS2', 'score': 14.16}, {'connected_gene': 'ENSG00000259715', 'score': 12.41}, {'connected_gene': 'SECISBP2L', 'score': 10.34}, {'connected_gene': 'GALK2', 'score': 4.23}, {'connected_gene': 'LOC105370811', 'score': 0.2}, {'connected_gene': 'FAM227B', 'score': 0.08}]
chr15	GH15I049443	49443219	49444979	0.2	[{'connected_gene': 'FAM227B', 'score': 18.59}, {'connected_gene': 'DTWD1', 'score': 10.1}, {'connected_gene': 'SECISBP2L', 'score': 9.96}, {'connected_gene': 'GALK2', 'score': 4.92}, {'connected_gene': 'FGF7', 'score': 0.34}, {'connected_gene': 'LOC105370811', 'score': 0.25}]
chr15	GH15I049458	49458700	49461694	0.31	[{'connected_gene': 'FAM227B', 'score': 21.56}, {'connected_gene': 'DTWD1', 'score': 15.84}, {'connected_gene': 'SECISBP2L', 'score': 8.51}, {'connected_gene': 'LOC105370811', 'score': 0.31}, {'connected_gene': 'FGF7', 'score': 0.28}]
chr15	GH15I049043	49043601	49043800	0.2	[{'connected_gene': 'RN7SL577P', 'score': 550.77}, {'connected_gene': 'SHC4', 'score': 10.46}, {'connected_gene': 'SECISBP2L', 'score': 0.77}]
chr15	GH15I049133	49133973	49139176	0.86	[{'connected_gene': 'GC15M049139', 'score': 550.77}, {'connected_gene': 'ENSG00000200120', 'score': 550.77}, {'connected_gene': 'SECISBP2L', 'score': 10.77}, {'connected_gene': 'SHC4', 'score': 10.61}, {'connected_gene': 'FGF7', 'score': 6.26}, {'connected_gene': 'GALK2', 'score': 5.29}, {'connected_gene': 'FAM227B', 'score': 4.79}, {'connected_gene': 'COPS2', 'score': 0.37}, {'connected_gene': 'GC15M049107', 'score': 0.31}]
chr15	GH15I049234	49234956	49236333	0.82	[{'connected_gene': 'PIR52968', 'score': 550.77}, {'connected_gene': 'SECISBP2L', 'score': 10.34}, {'connected_gene': 'FAM227B', 'score': 5.1}, {'connected_gene': 'RN7SL307P', 'score': 0.28}, {'connected_gene': 'GC15P049181', 'score': 0.23}, {'connected_gene': 'GALK2', 'score': 0.18}]