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
ENST00000261681	[[67707825, 67708250], [67736417, 67736500], [67745734, 67746254], [67759227, 67759436], [67768105, 67768183], [67768688, 67768835], [67769126, 67769288], [67770238, 67770316], [67779243, 67779427], [67783548, 67783620], [67784124, 67784196], [67786946, 67787114], [67787773, 67787976], [67790418, 67790529], [67799496, 67802536]]	[[67745887, 67746254], [67759227, 67759436], [67768105, 67768183], [67768688, 67768835], [67769126, 67769288], [67770238, 67770316], [67779243, 67779427], [67783548, 67783620], [67784124, 67784196], [67786946, 67787114], [67787773, 67787976], [67790418, 67790529], [67799496, 67799673]]
ENST00000555925	[[67708139, 67708250], [67736417, 67736500], [67745966, 67746254], [67759227, 67759436], [67768105, 67768183], [67768688, 67768835], [67769126, 67769288], [67770238, 67770316], [67779243, 67779427], [67783548, 67783620], [67784124, 67784196], [67786946, 67787114], [67787773, 67787976], [67790418, 67790529], [67799496, 67802536]]	[[67745989, 67746254], [67759227, 67759436], [67768105, 67768183], [67768688, 67768835], [67769126, 67769288], [67770238, 67770316], [67779243, 67779427], [67783548, 67783620], [67784124, 67784196], [67786946, 67787114], [67787773, 67787976], [67790418, 67790529], [67799496, 67799673]]
ENST00000554911	[[67708058, 67708250], [67720920, 67721027], [67736417, 67736481]]	None
ENST00000556345	[[67708139, 67708250], [67736417, 67736500], [67745734, 67746703]]	[[67745887, 67746262]]
ENST00000554208	[[67708151, 67708250], [67736417, 67738776]]	None
ENST00000557783	[[67708154, 67708250], [67745966, 67746254], [67759227, 67759410]]	[[67745989, 67746254], [67759227, 67759410]]
ENST00000557237	[[67708343, 67708702], [67736417, 67736500], [67745966, 67746003]]	[[67745989, 67746003]]
NM_001256550	[[67708011, 67708250], [67736417, 67736500], [67745966, 67746254], [67759227, 67759436], [67768105, 67768183], [67768688, 67768835], [67769126, 67769288], [67770238, 67770316], [67779243, 67779427], [67783548, 67783620], [67784124, 67784196], [67786946, 67787114], [67787773, 67787976], [67790418, 67790529], [67799496, 67802778]]	[[67745989, 67746254], [67759227, 67759436], [67768105, 67768183], [67768688, 67768835], [67769126, 67769288], [67770238, 67770316], [67779243, 67779427], [67783548, 67783620], [67784124, 67784196], [67786946, 67787114], [67787773, 67787976], [67790418, 67790529], [67799496, 67799673]]
NM_022474	[[67708011, 67708250], [67736417, 67736500], [67745734, 67746254], [67759227, 67759436], [67768105, 67768183], [67768688, 67768835], [67769126, 67769288], [67770238, 67770316], [67779243, 67779427], [67783548, 67783620], [67784124, 67784196], [67786946, 67787114], [67787773, 67787976], [67790418, 67790529], [67799496, 67802778]]	[[67745887, 67746254], [67759227, 67759436], [67768105, 67768183], [67768688, 67768835], [67769126, 67769288], [67770238, 67770316], [67779243, 67779427], [67783548, 67783620], [67784124, 67784196], [67786946, 67787114], [67787773, 67787976], [67790418, 67790529], [67799496, 67799673]]

Promoter

Chrom	Start	End	Description
chr14	67707543	67707570	CAGE_peak_20_at_MPP5_5end
chr14	67707975	67707994	CAGE_peak_5_at_MPP5_5end
chr14	67707996	67708057	CAGE_peak_2_at_MPP5_5end
chr14	67708101	67708127	CAGE_peak_3_at_MPP5_5end
chr14	67708137	67708168	CAGE_peak_1_at_MPP5_5end
chr14	67708177	67708205	CAGE_peak_4_at_MPP5_5end
chr14	67708217	67708226	CAGE_peak_10_at_MPP5_5end
chr14	67708249	67708258	CAGE_peak_11_at_MPP5_5end
chr14	67708383	67708400	CAGE_peak_8_at_MPP5_5end
chr14	67708401	67708416	CAGE_peak_9_at_MPP5_5end
chr14	67745794	67745797	CAGE_peak_7_at_MPP5_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	GH14I067536	67536196	67536336	0.42	[{'connected_gene': 'PLEKHH1', 'score': 16.95}, {'connected_gene': 'MPP5', 'score': 1.56}, {'connected_gene': 'RDH12', 'score': 1.32}, {'connected_gene': 'TMEM229B', 'score': 0.77}, {'connected_gene': 'PIR48522', 'score': 0.25}]
chr14	GH14I067539	67539210	67539488	0.58	[{'connected_gene': 'PLEKHH1', 'score': 10.86}, {'connected_gene': 'TMEM229B', 'score': 1.89}, {'connected_gene': 'MPP5', 'score': 1.61}, {'connected_gene': 'PIR48522', 'score': 0.25}]
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	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	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	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	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	GH14I067199	67199001	67199400	0.5	[{'connected_gene': 'SF3B4P1', 'score': 550.77}, {'connected_gene': 'ENSG00000258988', 'score': 550.77}, {'connected_gene': 'FAM71D', 'score': 0.44}, {'connected_gene': 'MPP5', 'score': 0.26}]
chr14	GH14I067457	67457884	67458673	0.43	[{'connected_gene': 'PLEK2', 'score': 14.83}, {'connected_gene': 'PLEKHH1', 'score': 12.29}, {'connected_gene': 'MPP5', 'score': 6.6}, {'connected_gene': 'TMEM229B', 'score': 4.89}, {'connected_gene': 'LOC105370542', 'score': 0.39}, {'connected_gene': 'GC14M067448', 'score': 0.39}]
chr14	GH14I067460	67460788	67466368	0.49	[{'connected_gene': 'PLEK2', 'score': 11.94}, {'connected_gene': 'PLEKHH1', 'score': 11.93}, {'connected_gene': 'GPHN', 'score': 5.01}, {'connected_gene': 'MPP5', 'score': 3.86}, {'connected_gene': 'LOC105370542', 'score': 0.44}, {'connected_gene': 'GC14M067448', 'score': 0.37}, {'connected_gene': 'TMEM229B', 'score': 0.19}]
chr14	GH14I068189	68189950	68195852	1.56	[{'connected_gene': 'ZFYVE26', 'score': 10.23}, {'connected_gene': 'MPP5', 'score': 3.83}, {'connected_gene': 'LOC105370546', 'score': 0.31}, {'connected_gene': 'RN7SL108P', 'score': 0.26}, {'connected_gene': 'RAD51B', 'score': 0.05}]
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	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	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}]