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
ENST00000225519	[[3511555, 3514266], [3518630, 3518831], [3524530, 3524706], [3526632, 3526785], [3527341, 3527525], [3533498, 3533640], [3539345, 3539616]]	[[3513853, 3514266], [3518630, 3518831], [3524530, 3524706], [3526632, 3526785], [3527341, 3527525], [3533498, 3533640], [3539345, 3539513]]
NM_013276	[[3511555, 3514266], [3518630, 3518831], [3524530, 3524706], [3526632, 3526785], [3527341, 3527525], [3533498, 3533640], [3539345, 3539616]]	[[3513853, 3514266], [3518630, 3518831], [3524530, 3524706], [3526632, 3526785], [3527341, 3527525], [3533498, 3533640], [3539345, 3539513]]

Promoter

Chrom	Start	End	Description
chr17	3539535	3539557	CAGE_peak_1_at_SHPK_5end
chr17	3539558	3539589	CAGE_peak_2_at_SHPK_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I003885	3885071	3896001	2.57	[{'connected_gene': 'CAMKK1', 'score': 561.76}, {'connected_gene': 'ANKFY1', 'score': 81.55}, {'connected_gene': 'MYBBP1A', 'score': 49.3}, {'connected_gene': 'PELP1', 'score': 45.11}, {'connected_gene': 'ENSG00000235085', 'score': 32.16}, {'connected_gene': 'LOC105371492', 'score': 20.16}, {'connected_gene': 'ZZEF1', 'score': 19.94}, {'connected_gene': 'P2RX1', 'score': 18.28}, {'connected_gene': 'SHPK', 'score': 11.66}, {'connected_gene': 'NCBP3', 'score': 11.61}, {'connected_gene': 'OR1E2', 'score': 2.47}, {'connected_gene': 'HASPIN', 'score': 1.45}, {'connected_gene': 'GC17P003894', 'score': 0.77}]
chr17	GH17I003631	3631519	3631541	0.24	[{'connected_gene': 'OR1E2', 'score': 16.33}, {'connected_gene': 'OR1A2', 'score': 13.59}, {'connected_gene': 'SHPK', 'score': 13.23}, {'connected_gene': 'OR1A1', 'score': 6.97}, {'connected_gene': 'OR3A2', 'score': 2.44}, {'connected_gene': 'OR1E1', 'score': 2.04}, {'connected_gene': 'ENSG00000262304', 'score': 0.77}, {'connected_gene': 'LOC100422717', 'score': 0.39}]
chr17	GH17I003562	3562473	3563683	0.72	[{'connected_gene': 'TRPV1', 'score': 11.98}, {'connected_gene': 'SHPK', 'score': 8.07}, {'connected_gene': 'ASPA', 'score': 6.99}, {'connected_gene': 'TRPV3', 'score': 0.44}, {'connected_gene': 'ENSG00000263338', 'score': 0.37}]
chr17	GH17I003609	3609478	3609537	0.5	[{'connected_gene': 'TRPV1', 'score': 550.77}, {'connected_gene': 'LOC100422717', 'score': 0.39}, {'connected_gene': 'ENSG00000262304', 'score': 0.31}, {'connected_gene': 'SHPK', 'score': 0.31}]
chr17	GH17I004219	4219955	4221663	0.98	[{'connected_gene': 'RYKP1', 'score': 550.77}, {'connected_gene': 'SHPK', 'score': 11.63}, {'connected_gene': 'ANKFY1', 'score': 11.28}, {'connected_gene': 'CYB5D2', 'score': 7.44}, {'connected_gene': 'LOC100420060', 'score': 0.37}]
chr17	GH17I003844	3844932	3846956	2.07	[{'connected_gene': 'NCBP3', 'score': 550.77}, {'connected_gene': 'SHPK', 'score': 11.67}, {'connected_gene': 'ZZEF1', 'score': 11.01}, {'connected_gene': 'ANKFY1', 'score': 10.13}, {'connected_gene': 'MYBBP1A', 'score': 9.97}, {'connected_gene': 'PELP1', 'score': 9.88}, {'connected_gene': 'GC17P003828', 'score': 0.37}]
chr17	GH17I003944	3944599	3945538	1.46	[{'connected_gene': 'P2RX1', 'score': 13.27}, {'connected_gene': 'CAMKK1', 'score': 12.07}, {'connected_gene': 'SHPK', 'score': 11.65}, {'connected_gene': 'CYB5D2', 'score': 5.77}, {'connected_gene': 'ATP2A3', 'score': 5.64}, {'connected_gene': 'GC17P003938', 'score': 0.44}]
chr17	GH17I004583	4583432	4589752	2.07	[{'connected_gene': 'SMTNL2', 'score': 567.91}, {'connected_gene': 'GGT6', 'score': 19.65}, {'connected_gene': 'RNU6-955P', 'score': 12.79}, {'connected_gene': 'ALOX15', 'score': 12.45}, {'connected_gene': 'SHPK', 'score': 11.62}, {'connected_gene': 'DERL2', 'score': 10.37}, {'connected_gene': 'VMO1', 'score': 5.21}, {'connected_gene': 'LINC01996', 'score': 0.34}]
chr17	GH17I003542	3542248	3543141	0.31	[{'connected_gene': 'SHPK', 'score': 4.94}, {'connected_gene': 'GC17M003518', 'score': 0.44}, {'connected_gene': 'TRPV3', 'score': 0.37}]
chr17	GH17I003627	3627064	3628050	0.2	[{'connected_gene': 'SHPK', 'score': 9.79}, {'connected_gene': 'ENSG00000262304', 'score': 0.44}, {'connected_gene': 'LOC100422717', 'score': 0.44}]
chr17	GH17I003574	3574163	3576390	0.38	[{'connected_gene': 'TRPV3', 'score': 13.47}, {'connected_gene': 'SHPK', 'score': 6.73}, {'connected_gene': 'ENSG00000263338', 'score': 0.77}, {'connected_gene': 'TRPV1', 'score': 0.29}]
chr17	GH17I003556	3556591	3559706	1.59	[{'connected_gene': 'TRPV3', 'score': 599.6}, {'connected_gene': 'SHPK', 'score': 7.68}, {'connected_gene': 'ASPA', 'score': 7.22}, {'connected_gene': 'ENSG00000263338', 'score': 0.34}]
chr17	GH17I003662	3662237	3662866	0.31	[{'connected_gene': 'CTNS', 'score': 29.98}, {'connected_gene': 'SHPK', 'score': 12.84}, {'connected_gene': 'P2RX5', 'score': 11.74}, {'connected_gene': 'LOC105371492', 'score': 0.77}, {'connected_gene': 'GC17P003667', 'score': 0.77}, {'connected_gene': 'GC17P003669', 'score': 0.77}, {'connected_gene': 'GC17P003666', 'score': 0.77}]
chr17	GH17I003661	3661847	3662131	0.63	[{'connected_gene': 'CTNS', 'score': 12.84}, {'connected_gene': 'SHPK', 'score': 12.84}, {'connected_gene': 'P2RX5', 'score': 11.74}, {'connected_gene': 'LOC105371492', 'score': 0.77}, {'connected_gene': 'GC17P003667', 'score': 0.77}, {'connected_gene': 'GC17P003669', 'score': 0.77}, {'connected_gene': 'GC17P003666', 'score': 0.77}]
chr17	GH17I003634	3634583	3637601	2.06	[{'connected_gene': 'CTNS', 'score': 576.52}, {'connected_gene': 'SHPK', 'score': 556.08}, {'connected_gene': 'ENSG00000262304', 'score': 550.77}, {'connected_gene': 'MYBBP1A', 'score': 18.53}, {'connected_gene': 'TAX1BP3', 'score': 16.44}, {'connected_gene': 'LOC105371492', 'score': 13.12}, {'connected_gene': 'ANKFY1', 'score': 12.6}, {'connected_gene': 'EMC6', 'score': 11.4}, {'connected_gene': 'LOC100422717', 'score': 0.37}]
chr17	GH17I003657	3657477	3661589	1.07	[{'connected_gene': 'LOC105371492', 'score': 550.77}, {'connected_gene': 'CTNS', 'score': 58.08}, {'connected_gene': 'SHPK', 'score': 12.87}, {'connected_gene': 'P2RX5', 'score': 11.72}, {'connected_gene': 'TAX1BP3', 'score': 6.57}, {'connected_gene': 'GC17P003667', 'score': 0.44}, {'connected_gene': 'GC17P003669', 'score': 0.44}, {'connected_gene': 'GC17P003666', 'score': 0.44}]