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
ENST00000489786	[[50360976, 50361162], [50361828, 50362780], [50364157, 50364339], [50366263, 50367358], [50367700, 50368265], [50368528, 50368609], [50368854, 50370922]]	None
ENST00000551733	[[50361021, 50361162], [50364157, 50364339], [50366263, 50366318], [50368106, 50368265], [50368528, 50368609], [50369247, 50369478]]	[[50368226, 50368265], [50368528, 50368609], [50369247, 50369454]]
ENST00000315520	[[50366619, 50367358], [50368106, 50368265], [50368528, 50368609], [50369247, 50369666]]	[[50366956, 50367358], [50368106, 50368265], [50368528, 50368609], [50369247, 50369454]]
NM_001652	[[50366619, 50367358], [50368106, 50368265], [50368528, 50368609], [50369247, 50370922]]	[[50366956, 50367358], [50368106, 50368265], [50368528, 50368609], [50369247, 50369454]]

Promoter

Chrom	Start	End	Description
chr12	50366724	50366735	CAGE_peak_2_at_AQP6_5end
chr12	50366760	50366775	CAGE_peak_1_at_AQP6_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I049765	49765962	49768060	0.52	[{'connected_gene': 'TMBIM6', 'score': 15.99}, {'connected_gene': 'NCKAP5L', 'score': 11.79}, {'connected_gene': 'FMNL3', 'score': 11.06}, {'connected_gene': 'AQP5', 'score': 10.19}, {'connected_gene': 'AQP6', 'score': 10.19}, {'connected_gene': 'DNAJC22', 'score': 6.68}, {'connected_gene': 'SPATS2', 'score': 5.66}, {'connected_gene': 'PIR31272', 'score': 0.77}, {'connected_gene': 'LSM6P2', 'score': 0.77}]
chr12	GH12I050046	50046705	50048737	0.72	[{'connected_gene': 'SMARCD1', 'score': 11.7}, {'connected_gene': 'AQP6', 'score': 11.35}, {'connected_gene': 'AQP2', 'score': 10.92}, {'connected_gene': 'COX14', 'score': 10.11}, {'connected_gene': 'LIMA1', 'score': 9.31}, {'connected_gene': 'RACGAP1', 'score': 6.81}, {'connected_gene': 'C1QL4', 'score': 4.78}, {'connected_gene': 'ASIC1', 'score': 0.44}]
chr12	GH12I050504	50504001	50510221	2.56	[{'connected_gene': 'DIP2B', 'score': 562.22}, {'connected_gene': 'LIMA1', 'score': 18.56}, {'connected_gene': 'ATF1', 'score': 17.17}, {'connected_gene': 'CERS5', 'score': 16.7}, {'connected_gene': 'ENSG00000257298', 'score': 14.98}, {'connected_gene': 'SMARCD1', 'score': 12.41}, {'connected_gene': 'RNU6-769P', 'score': 11.89}, {'connected_gene': 'BCDIN3D', 'score': 11.77}, {'connected_gene': 'ENSG00000257964', 'score': 10.27}, {'connected_gene': 'AQP6', 'score': 4.62}, {'connected_gene': 'GC12P050634', 'score': 0.13}]
chr12	GH12I050513	50513057	50521800	1.5	[{'connected_gene': 'LIMA1', 'score': 24.32}, {'connected_gene': 'SMARCD1', 'score': 14.54}, {'connected_gene': 'BCDIN3D', 'score': 14.32}, {'connected_gene': 'SLC11A2', 'score': 14.26}, {'connected_gene': 'CERS5', 'score': 12.7}, {'connected_gene': 'RNU6-769P', 'score': 12.02}, {'connected_gene': 'ATF1', 'score': 9.75}, {'connected_gene': 'AQP5', 'score': 5.68}, {'connected_gene': 'AQP6', 'score': 4.64}, {'connected_gene': 'DIP2B', 'score': 1.67}, {'connected_gene': 'GC12P050634', 'score': 0.13}]
chr12	GH12I050020	50020530	50022214	0.63	[{'connected_gene': 'ASIC1', 'score': 11.93}, {'connected_gene': 'AQP6', 'score': 11.31}, {'connected_gene': 'AQP5', 'score': 11.3}, {'connected_gene': 'AQP2', 'score': 9.9}, {'connected_gene': 'RACGAP1', 'score': 0.39}, {'connected_gene': 'PIR47189', 'score': 0.29}]
chr12	GH12I050015	50015968	50019680	0.95	[{'connected_gene': 'ASIC1', 'score': 11.93}, {'connected_gene': 'BCDIN3D-AS1', 'score': 11.35}, {'connected_gene': 'AQP6', 'score': 11.31}, {'connected_gene': 'AQP5', 'score': 11.3}, {'connected_gene': 'RACGAP1', 'score': 10.18}, {'connected_gene': 'AQP2', 'score': 9.91}, {'connected_gene': 'ENSG00000272368', 'score': 9.8}, {'connected_gene': 'COX14', 'score': 9.67}, {'connected_gene': 'LIMA1', 'score': 9.39}, {'connected_gene': 'LARP4', 'score': 7.22}, {'connected_gene': 'PIR47189', 'score': 0.31}]
chr12	GH12I050566	50564001	50564800	0.57	[{'connected_gene': 'AQP6', 'score': 4.43}, {'connected_gene': 'DIP2B', 'score': 0.22}, {'connected_gene': 'GC12P050634', 'score': 0.2}]
chr12	GH12I050039	50039200	50040294	1.27	[{'connected_gene': 'AQP6', 'score': 11.34}, {'connected_gene': 'AQP5', 'score': 11.24}, {'connected_gene': 'AQP2', 'score': 10.53}, {'connected_gene': 'LIMA1', 'score': 9.52}, {'connected_gene': 'LARP4', 'score': 7.94}, {'connected_gene': 'RACGAP1', 'score': 7.46}, {'connected_gene': 'ASIC1', 'score': 0.37}]
chr12	GH12I050059	50059838	50060067	0.43	[{'connected_gene': 'AQP6', 'score': 11.66}, {'connected_gene': 'RACGAP1', 'score': 11.16}, {'connected_gene': 'AQP2', 'score': 10.55}, {'connected_gene': 'COX14', 'score': 10.36}, {'connected_gene': 'CERS5', 'score': 10.32}, {'connected_gene': 'LIMA1', 'score': 9.2}, {'connected_gene': 'GC12P050064', 'score': 0.77}, {'connected_gene': 'ASIC1', 'score': 0.77}]
chr12	GH12I049966	49966487	49967916	1.69	[{'connected_gene': 'AQP6', 'score': 555.43}, {'connected_gene': 'CERS5', 'score': 4.38}, {'connected_gene': 'LOC105369764', 'score': 0.77}]
chr12	GH12I049933	49933281	49934412	0.38	[{'connected_gene': 'AQP5', 'score': 11.35}, {'connected_gene': 'AQP6', 'score': 11.33}, {'connected_gene': 'ASIC1', 'score': 10.43}, {'connected_gene': 'FAIM2', 'score': 5.53}, {'connected_gene': 'LOC105369763', 'score': 0.44}, {'connected_gene': 'LINC02395', 'score': 0.34}]
chr12	GH12I050024	50024143	50026246	2.08	[{'connected_gene': 'RACGAP1', 'score': 560.25}, {'connected_gene': 'LMBR1L', 'score': 27.87}, {'connected_gene': 'KMT2D', 'score': 27.84}, {'connected_gene': 'SMARCD1', 'score': 26.19}, {'connected_gene': 'BCDIN3D', 'score': 22.62}, {'connected_gene': 'PRPF40B', 'score': 19.27}, {'connected_gene': 'ATF1', 'score': 13.51}, {'connected_gene': 'ASIC1', 'score': 11.94}, {'connected_gene': 'AQP6', 'score': 11.3}, {'connected_gene': 'AQP5', 'score': 11.29}, {'connected_gene': 'AQP2', 'score': 10.23}, {'connected_gene': 'ENSG00000257964', 'score': 9.84}, {'connected_gene': 'LIMA1', 'score': 9.4}, {'connected_gene': 'PIR47189', 'score': 0.28}]
chr12	GH12I050032	50032800	50033547	1.12	[{'connected_gene': 'RACGAP1', 'score': 555.91}, {'connected_gene': 'AQP6', 'score': 11.26}, {'connected_gene': 'AQP5', 'score': 11.25}, {'connected_gene': 'AQP2', 'score': 10.54}, {'connected_gene': 'LIMA1', 'score': 9.52}, {'connected_gene': 'ASIC1', 'score': 0.34}]
chr12	GH12I050545	50545410	50547231	1.04	[{'connected_gene': 'ATF1', 'score': 16.67}, {'connected_gene': 'RNU6-769P', 'score': 11.82}, {'connected_gene': 'AQP6', 'score': 4.62}, {'connected_gene': 'DIP2B', 'score': 0.26}, {'connected_gene': 'GC12P050634', 'score': 0.17}]
chr12	GH12I050066	50066121	50067203	1.13	[{'connected_gene': 'CERS5', 'score': 27.47}, {'connected_gene': 'AQP6', 'score': 10.98}, {'connected_gene': 'RACGAP1', 'score': 10.78}, {'connected_gene': 'AQP2', 'score': 10.2}, {'connected_gene': 'GC12P050064', 'score': 0.77}, {'connected_gene': 'ASIC1', 'score': 0.44}, {'connected_gene': 'SMARCD1', 'score': 0.37}]
chr12	GH12I050530	50530767	50535309	1.37	[{'connected_gene': 'CERS5', 'score': 12.62}, {'connected_gene': 'RNU6-769P', 'score': 11.36}, {'connected_gene': 'DIP2B', 'score': 10.52}, {'connected_gene': 'LIMA1', 'score': 9.18}, {'connected_gene': 'AQP6', 'score': 4.62}, {'connected_gene': 'GC12P050634', 'score': 0.15}]
chr12	GH12I049975	49974238	49974504	0.69	[{'connected_gene': 'LOC102723963', 'score': 0.77}, {'connected_gene': 'LOC105369764', 'score': 0.77}, {'connected_gene': 'AQP6', 'score': 0.44}]
chr12	GH12I049974	49974607	49975526	0.57	[{'connected_gene': 'LOC102723963', 'score': 0.77}, {'connected_gene': 'LOC105369764', 'score': 0.77}, {'connected_gene': 'AQP6', 'score': 0.44}]
chr12	GH12I049863	49863958	49864929	0.51	[{'connected_gene': 'RPL35AP28', 'score': 550.77}, {'connected_gene': 'NCKAP5L', 'score': 10.77}, {'connected_gene': 'AQP5', 'score': 10.3}, {'connected_gene': 'AQP6', 'score': 10.29}, {'connected_gene': 'AQP2', 'score': 9.9}, {'connected_gene': 'ENSG00000257253', 'score': 7.29}, {'connected_gene': 'GC12M049898', 'score': 0.28}]
chr12	GH12I049990	49990208	49991000	0.31	[{'connected_gene': 'PIR47189', 'score': 550.77}, {'connected_gene': 'RACGAP1', 'score': 21.02}, {'connected_gene': 'AQP6', 'score': 12.03}, {'connected_gene': 'ASIC1', 'score': 11.3}, {'connected_gene': 'AQP5', 'score': 11.24}, {'connected_gene': 'AQP2', 'score': 10.74}, {'connected_gene': 'COX14', 'score': 9.66}, {'connected_gene': 'MCRS1', 'score': 9.26}, {'connected_gene': 'LIMA1', 'score': 9.22}]