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

Promoter

Chrom	Start	End	Description
chr14	67826462	67826473	CAGE_peak_4_at_ATP6V1D_5end
chr14	67826474	67826485	CAGE_peak_3_at_ATP6V1D_5end
chr14	67826486	67826530	CAGE_peak_1_at_ATP6V1D_5end
chr14	67826538	67826565	CAGE_peak_2_at_ATP6V1D_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr14	GH14I067238	67238315	67243321	2.23	[{'connected_gene': 'MPP5', 'score': 550.77}, {'connected_gene': 'ATP6V1D', 'score': 23.84}, {'connected_gene': 'EIF2S1', 'score': 7.8}, {'connected_gene': 'ENSG00000258561', 'score': 5.74}, {'connected_gene': 'ENSG00000258988', 'score': 0.26}]
chr14	GH14I067426	67426744	67427873	0.89	[{'connected_gene': 'PLEKHH1', 'score': 12.31}, {'connected_gene': 'ATP6V1D', 'score': 8.7}, {'connected_gene': 'GPHN', 'score': 5.83}, {'connected_gene': 'MIR5694', 'score': 0.39}, {'connected_gene': 'PLEK2', 'score': 0.37}]
chr14	GH14I067226	67226447	67227368	0.2	[{'connected_gene': 'ATP6V1D', 'score': 24.03}, {'connected_gene': 'MPP5', 'score': 0.39}, {'connected_gene': 'ENSG00000258988', 'score': 0.31}, {'connected_gene': 'FAM71D', 'score': 0.28}]
chr14	GH14I067221	67221156	67222864	0.8	[{'connected_gene': 'ATP6V1D', 'score': 25.04}, {'connected_gene': 'MPP5', 'score': 0.37}, {'connected_gene': 'ENSG00000258988', 'score': 0.34}, {'connected_gene': 'FAM71D', 'score': 0.29}]
chr14	GH14I067284	67284544	67284856	0.45	[{'connected_gene': 'ATP6V1D', 'score': 22.98}, {'connected_gene': 'MPP5', 'score': 11.37}, {'connected_gene': 'RDH12', 'score': 3.52}, {'connected_gene': 'PLEKHH1', 'score': 1.65}, {'connected_gene': 'PIGH', 'score': 1.09}, {'connected_gene': 'GC14M067261', 'score': 0.34}, {'connected_gene': 'GC14M067260', 'score': 0.34}, {'connected_gene': 'GC14P067341', 'score': 0.22}]
chr14	GH14I067216	67216844	67219486	0.63	[{'connected_gene': 'ATP6V1D', 'score': 23.66}, {'connected_gene': 'MPP5', 'score': 12.18}, {'connected_gene': 'GPHN', 'score': 5.94}, {'connected_gene': 'ENSG00000258988', 'score': 0.37}, {'connected_gene': 'FAM71D', 'score': 0.31}]
chr14	GH14I067296	67296642	67296938	0.22	[{'connected_gene': 'ATP6V1D', 'score': 25.1}, {'connected_gene': 'GC14M067260', 'score': 0.28}, {'connected_gene': 'GC14M067261', 'score': 0.28}, {'connected_gene': 'GC14P067341', 'score': 0.26}, {'connected_gene': 'MPP5', 'score': 0.22}]
chr14	GH14I068018	68018114	68019371	0.67	[{'connected_gene': 'ATP6V1D', 'score': 4.23}, {'connected_gene': 'PIR59795', 'score': 0.23}, {'connected_gene': 'ENSG00000274666', 'score': 0.15}, {'connected_gene': 'RAD51B', 'score': 0.08}]
chr14	GH14I067998	67998563	68001534	0.89	[{'connected_gene': 'ATP6V1D', 'score': 4.48}, {'connected_gene': 'PIR59795', 'score': 0.29}, {'connected_gene': 'ENSG00000274666', 'score': 0.14}, {'connected_gene': 'RAD51B', 'score': 0.09}]
chr14	GH14I068085	68085141	68086674	0.75	[{'connected_gene': 'ATP6V1D', 'score': 4.24}, {'connected_gene': 'ENSG00000274666', 'score': 0.31}, {'connected_gene': 'PIR59795', 'score': 0.13}, {'connected_gene': 'RAD51B', 'score': 0.06}]
chr14	GH14I068110	68110804	68112999	0.99	[{'connected_gene': 'ATP6V1D', 'score': 4.91}, {'connected_gene': 'ENSG00000274666', 'score': 0.77}, {'connected_gene': 'PIR59795', 'score': 0.11}, {'connected_gene': 'RAD51B', 'score': 0.06}]
chr14	GH14I068098	68098708	68100387	0.43	[{'connected_gene': 'ATP6V1D', 'score': 4.91}, {'connected_gene': 'ENSG00000274666', 'score': 0.39}, {'connected_gene': 'PIR59795', 'score': 0.12}, {'connected_gene': 'RAD51B', 'score': 0.06}]
chr14	GH14I067417	67417701	67420479	0.9	[{'connected_gene': 'ATP6V1D', 'score': 12.98}, {'connected_gene': 'PLEKHH1', 'score': 11.58}, {'connected_gene': 'PIGH', 'score': 10.76}, {'connected_gene': 'PLEK2', 'score': 0.44}, {'connected_gene': 'MIR5694', 'score': 0.34}]
chr14	GH14I067415	67415704	67417471	0.72	[{'connected_gene': 'ATP6V1D', 'score': 13.01}, {'connected_gene': 'PLEKHH1', 'score': 11.49}, {'connected_gene': 'PIGH', 'score': 10.39}, {'connected_gene': 'PLEK2', 'score': 5.45}, {'connected_gene': 'MIR5694', 'score': 0.31}]
chr14	GH14I066444	66444451	66445087	0.2	[{'connected_gene': 'ATP6V1D', 'score': 11.82}, {'connected_gene': 'CCDC196', 'score': 0.29}, {'connected_gene': 'GPHN', 'score': 0.21}, {'connected_gene': 'ENSG00000258561', 'score': 0.21}]
chr14	GH14I066379	66379183	66379332	0.43	[{'connected_gene': 'ATP6V1D', 'score': 11.72}, {'connected_gene': 'CCDC196', 'score': 0.29}, {'connected_gene': 'ENSG00000258561', 'score': 0.12}, {'connected_gene': 'GC14P066230', 'score': 0.11}]
chr14	GH14I067268	67268070	67271638	0.88	[{'connected_gene': 'ATP6V1D', 'score': 25.21}, {'connected_gene': 'PLEK2', 'score': 17.84}, {'connected_gene': 'MPP5', 'score': 12.29}, {'connected_gene': 'EIF2S1', 'score': 7.82}, {'connected_gene': 'GPHN', 'score': 4.51}, {'connected_gene': 'GC14M067260', 'score': 0.44}, {'connected_gene': 'GC14M067261', 'score': 0.44}, {'connected_gene': 'GC14P067341', 'score': 0.19}]
chr14	GH14I067263	67263164	67263942	0.91	[{'connected_gene': 'ATP6V1D', 'score': 25.05}, {'connected_gene': 'PLEK2', 'score': 17.84}, {'connected_gene': 'GC14M067260', 'score': 0.77}, {'connected_gene': 'GC14M067261', 'score': 0.77}, {'connected_gene': 'MPP5', 'score': 0.34}, {'connected_gene': 'GC14P067341', 'score': 0.18}]
chr14	GH14I067247	67247401	67248200	0.76	[{'connected_gene': 'ATP6V1D', 'score': 24.14}, {'connected_gene': 'PLEK2', 'score': 4.29}, {'connected_gene': 'MPP5', 'score': 0.44}, {'connected_gene': 'GC14P067260', 'score': 0.39}]
chr14	GH14I067390	67390422	67393462	0.83	[{'connected_gene': 'ATP6V1D', 'score': 24.85}, {'connected_gene': 'PLEK2', 'score': 11.54}, {'connected_gene': 'EIF2S1', 'score': 4.69}, {'connected_gene': 'ENSG00000258561', 'score': 3.88}]
chr14	GH14I067185	67185681	67188324	1.03	[{'connected_gene': 'ATP6V1D', 'score': 17.42}, {'connected_gene': 'PLEK2', 'score': 6.73}, {'connected_gene': 'LOC105370538', 'score': 0.77}, {'connected_gene': 'ENSG00000258490', 'score': 0.08}]
chr14	GH14I067228	67228331	67229627	0.31	[{'connected_gene': 'ATP6V1D', 'score': 24.25}, {'connected_gene': 'EIF2S1', 'score': 7.85}, {'connected_gene': 'MPP5', 'score': 0.39}, {'connected_gene': 'ENSG00000258988', 'score': 0.31}, {'connected_gene': 'FAM71D', 'score': 0.28}]
chr14	GH14I067230	67230810	67233015	0.51	[{'connected_gene': 'ATP6V1D', 'score': 24.26}, {'connected_gene': 'EIF2S1', 'score': 8.42}, {'connected_gene': 'MPP5', 'score': 0.44}, {'connected_gene': 'ENSG00000258988', 'score': 0.29}]
chr14	GH14I067356	67356532	67361905	2.27	[{'connected_gene': 'ATP6V1D', 'score': 575.84}, {'connected_gene': 'EIF2S1', 'score': 550.77}, {'connected_gene': 'ZFYVE26', 'score': 22.31}, {'connected_gene': 'PLEK2', 'score': 18.52}, {'connected_gene': 'ENSG00000258561', 'score': 7.39}, {'connected_gene': 'GPHN', 'score': 5.94}, {'connected_gene': 'ENSG00000199755', 'score': 0.37}]
chr14	GH14I067312	67312004	67312153	0.8	[{'connected_gene': 'ATP6V1D', 'score': 37.24}, {'connected_gene': 'EIF2S1', 'score': 12.33}, {'connected_gene': 'FAM71D', 'score': 11.37}, {'connected_gene': 'GC14P067341', 'score': 0.31}, {'connected_gene': 'GC14M067260', 'score': 0.23}, {'connected_gene': 'GC14M067261', 'score': 0.23}, {'connected_gene': 'MPP5', 'score': 0.19}]
chr14	GH14I068135	68135178	68148753	1.94	[{'connected_gene': 'ATP6V1D', 'score': 4.92}, {'connected_gene': 'RN7SL706P', 'score': 0.44}, {'connected_gene': 'LOC105370546', 'score': 0.31}, {'connected_gene': 'LOC100420174', 'score': 0.31}, {'connected_gene': 'RAD51B', 'score': 0.05}]
chr14	GH14I067251	67251600	67251853	0.78	[{'connected_gene': 'ATP6V1D', 'score': 23.44}, {'connected_gene': 'GPHN', 'score': 5.92}, {'connected_gene': 'GC14P067260', 'score': 0.44}, {'connected_gene': 'MPP5', 'score': 0.39}]
chr14	GH14I067252	67252371	67255459	0.76	[{'connected_gene': 'ATP6V1D', 'score': 24.32}, {'connected_gene': 'GPHN', 'score': 5.92}, {'connected_gene': 'ENSG00000258561', 'score': 5.7}, {'connected_gene': 'GC14P067260', 'score': 0.44}, {'connected_gene': 'MPP5', 'score': 0.39}]
chr14	GH14I066483	66483483	66483632	0.67	[{'connected_gene': 'ATP6V1D', 'score': 12.6}, {'connected_gene': 'GPHN', 'score': 12.27}, {'connected_gene': 'ENSG00000258561', 'score': 0.31}, {'connected_gene': 'CCDC196', 'score': 0.19}]
chr14	GH14I067343	67343444	67344897	0.2	[{'connected_gene': 'ATP6V1D', 'score': 25.43}, {'connected_gene': 'GPHN', 'score': 5.94}, {'connected_gene': 'ENSG00000199755', 'score': 0.77}, {'connected_gene': 'EIF2S1', 'score': 0.37}]
chr14	GH14I066650	66650028	66651748	0.67	[{'connected_gene': 'ATP6V1D', 'score': 16.67}, {'connected_gene': 'GPHN', 'score': 5.29}, {'connected_gene': 'ENSG00000258796', 'score': 0.14}, {'connected_gene': 'ENSG00000258561', 'score': 0.11}]
chr14	GH14I066931	66931654	66933488	0.96	[{'connected_gene': 'ATP6V1D', 'score': 11.79}, {'connected_gene': 'GPHN', 'score': 5.96}, {'connected_gene': 'GC14M066915', 'score': 0.39}, {'connected_gene': 'ENSG00000258490', 'score': 0.28}]
chr14	GH14I066949	66949991	66950340	0.26	[{'connected_gene': 'ATP6V1D', 'score': 17.39}, {'connected_gene': 'GPHN', 'score': 1.74}, {'connected_gene': 'ENSG00000258490', 'score': 0.37}, {'connected_gene': 'GC14M066915', 'score': 0.31}]
chr14	GH14I068131	68131767	68133568	0.2	[{'connected_gene': 'ATP6V1D', 'score': 4.21}, {'connected_gene': 'LOC100420174', 'score': 0.37}, {'connected_gene': 'RN7SL706P', 'score': 0.37}, {'connected_gene': 'LOC105370546', 'score': 0.29}, {'connected_gene': 'RAD51B', 'score': 0.06}]
chr14	GH14I068124	68124504	68126681	0.89	[{'connected_gene': 'ATP6V1D', 'score': 4.89}, {'connected_gene': 'LOC100420174', 'score': 0.39}, {'connected_gene': 'RN7SL706P', 'score': 0.34}, {'connected_gene': 'LOC105370546', 'score': 0.26}, {'connected_gene': 'RAD51B', 'score': 0.06}]
chr14	GH14I067409	67409537	67415184	2.14	[{'connected_gene': 'PLEK2', 'score': 559.17}, {'connected_gene': 'ATP6V1D', 'score': 15.39}, {'connected_gene': 'ZFYVE26', 'score': 13.26}, {'connected_gene': 'PLEKHH1', 'score': 10.99}, {'connected_gene': 'MIR5694', 'score': 0.31}]
chr14	GH14I067308	67308232	67308345	0.28	[{'connected_gene': 'EIF2S1', 'score': 12.31}, {'connected_gene': 'ATP6V1D', 'score': 12.31}, {'connected_gene': 'PLEKHH1', 'score': 1.79}, {'connected_gene': 'GC14P067341', 'score': 0.29}, {'connected_gene': 'GC14M067260', 'score': 0.25}, {'connected_gene': 'GC14M067261', 'score': 0.25}, {'connected_gene': 'MPP5', 'score': 0.2}]
chr14	GH14I067357	67356201	67356400	0.2	[{'connected_gene': 'EIF2S1', 'score': 0.77}, {'connected_gene': 'ATP6V1D', 'score': 0.77}, {'connected_gene': 'ENSG00000199755', 'score': 0.37}]
chr14	GH14I067467	67467281	67468715	0.43	[{'connected_gene': 'LOC105370542', 'score': 550.77}, {'connected_gene': 'PLEKHH1', 'score': 11.88}, {'connected_gene': 'PLEK2', 'score': 10.87}, {'connected_gene': 'ATP6V1D', 'score': 4.75}, {'connected_gene': 'GC14M067448', 'score': 0.34}, {'connected_gene': 'TMEM229B', 'score': 0.2}]
chr14	GH14I067342	67342307	67342579	0.28	[{'connected_gene': 'GPHN', 'score': 5.94}, {'connected_gene': 'PLEKHH1', 'score': 4.44}, {'connected_gene': 'MPP5', 'score': 2.29}, {'connected_gene': 'RDH12', 'score': 2.14}, {'connected_gene': 'ENSG00000199755', 'score': 0.77}, {'connected_gene': 'EIF2S1', 'score': 0.37}, {'connected_gene': 'ATP6V1D', 'score': 0.37}]
chr14	GH14I066506	66506773	66510001	2.08	[{'connected_gene': 'GPHN', 'score': 550.77}, {'connected_gene': 'ENSG00000258561', 'score': 550.77}, {'connected_gene': 'ATP6V1D', 'score': 12.7}, {'connected_gene': 'PLEK2', 'score': 11.87}, {'connected_gene': 'EIF2S1', 'score': 10.42}]
chr14	GH14I067439	67439773	67441753	0.64	[{'connected_gene': 'MIR5694', 'score': 550.77}, {'connected_gene': 'PLEKHH1', 'score': 11.85}, {'connected_gene': 'PLEK2', 'score': 11.12}, {'connected_gene': 'MPP5', 'score': 7.18}, {'connected_gene': 'ATP6V1D', 'score': 4.86}]
chr14	GH14I067261	67261596	67261908	0.42	[{'connected_gene': 'GC14P067260', 'score': 550.77}, {'connected_gene': 'GC14M067260', 'score': 550.77}, {'connected_gene': 'GC14M067261', 'score': 550.77}, {'connected_gene': 'ATP6V1D', 'score': 3.96}, {'connected_gene': 'MPP5', 'score': 0.34}, {'connected_gene': 'GC14P067341', 'score': 0.18}]
chr14	GH14I068113	68113264	68114594	0.2	[{'connected_gene': 'ENSG00000274666', 'score': 550.77}, {'connected_gene': 'LOC100420174', 'score': 550.77}, {'connected_gene': 'ATP6V1D', 'score': 4.91}, {'connected_gene': 'PIR59795', 'score': 0.11}, {'connected_gene': 'RAD51B', 'score': 0.06}]

Transcript ID	Transcript exon region	Coding exon region
ENST00000554087	[[67761087, 67761704], [67770776, 67770794], [67778774, 67778900], [67803363, 67803455], [67805277, 67805479], [67807156, 67807235], [67810088, 67810155], [67812484, 67812588], [67814125, 67814170], [67815753, 67815821], [67817327, 67817407], [67819639, 67819757], [67826374, 67826508]]	[[67805337, 67805479], [67807156, 67807235], [67810088, 67810155], [67812484, 67812588], [67814125, 67814170], [67815753, 67815821], [67817327, 67817407], [67819639, 67819757], [67826374, 67826415]]
ENST00000553974	[[67778721, 67778900], [67803363, 67803455], [67804103, 67804493]]	None
ENST00000553408	[[67802904, 67803455], [67815753, 67815821], [67817327, 67817386]]	[[67803447, 67803455], [67815753, 67815821], [67817327, 67817386]]
ENST00000555625	[[67803394, 67803455], [67804103, 67804226], [67804791, 67804869], [67805277, 67805479], [67807156, 67807235], [67810088, 67810155], [67812484, 67812588], [67814125, 67814170], [67815753, 67815778]]	[[67805337, 67805479], [67807156, 67807235], [67810088, 67810155], [67812484, 67812588], [67814125, 67814170], [67815753, 67815778]]
ENST00000555474	[[67804787, 67805479], [67807156, 67807235], [67810088, 67810155], [67819639, 67819757], [67826374, 67826520]]	[[67805337, 67805479], [67807156, 67807235], [67810088, 67810155], [67819639, 67819757], [67826374, 67826415]]
ENST00000216442	[[67804787, 67805479], [67807156, 67807235], [67810088, 67810155], [67812484, 67812588], [67814125, 67814170], [67815753, 67815821], [67817327, 67817407], [67819639, 67819757], [67826374, 67826966]]	[[67805337, 67805479], [67807156, 67807235], [67810088, 67810155], [67812484, 67812588], [67814125, 67814170], [67815753, 67815821], [67817327, 67817407], [67819639, 67819757], [67826374, 67826415]]
ENST00000555431	[[67804967, 67805479], [67807156, 67807235], [67810088, 67810155], [67812484, 67812588], [67814125, 67814170], [67815753, 67815821], [67817327, 67817407], [67826374, 67826504]]	[[67805337, 67805479], [67807156, 67807235], [67810088, 67810155], [67812484, 67812588], [67814125, 67814170], [67815753, 67815821], [67817327, 67817401]]
ENST00000554236	[[67805215, 67805479], [67807156, 67807235], [67812484, 67812588], [67814125, 67814170], [67815753, 67815821], [67817327, 67817407], [67819639, 67819757], [67826374, 67826504]]	[[67805474, 67805479], [67807156, 67807235], [67812484, 67812588], [67814125, 67814170], [67815753, 67815821], [67817327, 67817407], [67819639, 67819757], [67826374, 67826415]]
ENST00000555723	[[67805271, 67805479], [67812484, 67812588], [67814125, 67814170], [67815753, 67815821], [67817327, 67817407], [67819639, 67819654]]	[[67805431, 67805479], [67812484, 67812588], [67814125, 67814170], [67815753, 67815821], [67817327, 67817407], [67819639, 67819654]]
ENST00000556058	[[67810088, 67810155], [67812484, 67812588], [67814125, 67814170], [67817327, 67817407], [67819639, 67819757], [67826374, 67826511]]	[[67814148, 67814170], [67817327, 67817407], [67819639, 67819757], [67826374, 67826415]]
ENST00000555335	[[67815571, 67815821], [67817327, 67817407], [67819639, 67819757], [67826374, 67826511]]	None
ENST00000553687	[[67817334, 67817407], [67819639, 67819757], [67820415, 67820676], [67826374, 67826549]]	[[67817334, 67817407], [67819639, 67819744]]
ENST00000555012	[[67817348, 67817407], [67819639, 67819757], [67826374, 67826577], [67826780, 67826982]]	[[67817348, 67817407], [67819639, 67819757], [67826374, 67826415]]
ENST00000557244	[[67819447, 67819757], [67826374, 67826459]]	None
NM_015994	[[67804580, 67805479], [67807156, 67807235], [67810088, 67810155], [67812484, 67812588], [67814125, 67814170], [67815753, 67815821], [67817327, 67817407], [67819639, 67819757], [67826374, 67826720]]	[[67805337, 67805479], [67807156, 67807235], [67810088, 67810155], [67812484, 67812588], [67814125, 67814170], [67815753, 67815821], [67817327, 67817407], [67819639, 67819757], [67826374, 67826415]]