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
ENST00000368910	[[151129104, 151129198], [151131141, 151132225]]	[[151131173, 151131728]]
NM_024575	[[151129104, 151129198], [151131141, 151132225]]	[[151131173, 151131728]]

Promoter

Chrom	Start	End	Description
chr1	151129103	151129130	CAGE_peak_2_at_TNFAIP8L2_5end
chr1	151129135	151129165	CAGE_peak_1_at_TNFAIP8L2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I151308	151308906	151314966	1.74	[{'connected_gene': 'PIP5K1A', 'score': 17.74}, {'connected_gene': 'PRPF3', 'score': 17.01}, {'connected_gene': 'GABPB2', 'score': 16.5}, {'connected_gene': 'PI4KB', 'score': 15.7}, {'connected_gene': 'MRPL9', 'score': 15.25}, {'connected_gene': 'ZNF687', 'score': 14.49}, {'connected_gene': 'RFX5', 'score': 13.27}, {'connected_gene': 'LOC100507670', 'score': 12.29}, {'connected_gene': 'SETDB1', 'score': 11.71}, {'connected_gene': 'POGZ', 'score': 11.67}, {'connected_gene': 'UBE2D3P3', 'score': 11.67}, {'connected_gene': 'RPRD2', 'score': 11.44}, {'connected_gene': 'ARNT', 'score': 11.25}, {'connected_gene': 'ENSG00000224645', 'score': 11.13}, {'connected_gene': 'GBAT2', 'score': 11.1}, {'connected_gene': 'PSMB4', 'score': 11.01}, {'connected_gene': 'GOLPH3L', 'score': 10.88}, {'connected_gene': 'MINDY1', 'score': 10.85}, {'connected_gene': 'SELENBP1', 'score': 10.67}, {'connected_gene': 'PSMD4', 'score': 10.66}, {'connected_gene': 'CTSK', 'score': 10.43}, {'connected_gene': 'TMOD4', 'score': 9.47}, {'connected_gene': 'PRUNE1', 'score': 9.44}, {'connected_gene': 'THEM4', 'score': 4.18}, {'connected_gene': 'BNIPL', 'score': 4.02}, {'connected_gene': 'CDC42SE1', 'score': 2.92}, {'connected_gene': 'TNFAIP8L2', 'score': 1.39}, {'connected_gene': 'RN7SL444P', 'score': 0.39}]
chr1	GH01I151727	151727998	151728873	0.51	[{'connected_gene': 'SNX27', 'score': 18.2}, {'connected_gene': 'ENSG00000249602', 'score': 7.31}, {'connected_gene': 'ENSG00000227045', 'score': 4.66}, {'connected_gene': 'TNFAIP8L2', 'score': 3.92}, {'connected_gene': 'CELF3', 'score': 0.39}, {'connected_gene': 'GC01P151746', 'score': 0.37}, {'connected_gene': 'RIIAD1', 'score': 0.37}]
chr1	GH01I150182	150182288	150182618	0.45	[{'connected_gene': 'TNFAIP8L2', 'score': 5.16}, {'connected_gene': 'SV2A', 'score': 3.91}, {'connected_gene': 'MCL1', 'score': 1.26}, {'connected_gene': 'LOC105371433', 'score': 0.34}, {'connected_gene': 'GC01P150213', 'score': 0.31}]
chr1	GH01I151099	151099905	151100054	0.66	[{'connected_gene': 'TNFAIP8L2', 'score': 11.89}, {'connected_gene': 'SEMA6C', 'score': 11.34}, {'connected_gene': 'GABPB2', 'score': 11.31}, {'connected_gene': 'MINDY1', 'score': 10.95}, {'connected_gene': 'PRUNE1', 'score': 10.95}, {'connected_gene': 'TMOD4', 'score': 10.92}, {'connected_gene': 'SCNM1', 'score': 10.83}, {'connected_gene': 'LYSMD1', 'score': 10.81}, {'connected_gene': 'VPS72', 'score': 10.69}, {'connected_gene': 'PIP5K1A', 'score': 10.69}, {'connected_gene': 'RNU6-884P', 'score': 10.67}, {'connected_gene': 'C1orf56', 'score': 10.66}, {'connected_gene': 'BNIPL', 'score': 10.64}, {'connected_gene': 'PSMD4', 'score': 10.62}, {'connected_gene': 'RPS29P29', 'score': 0.39}]
chr1	GH01I150969	150969680	150980234	2.67	[{'connected_gene': 'CERS2', 'score': 551.83}, {'connected_gene': 'ENSG00000231073', 'score': 550.77}, {'connected_gene': 'PRPF3', 'score': 67.11}, {'connected_gene': 'SETDB1', 'score': 61.01}, {'connected_gene': 'ZNF687', 'score': 50.63}, {'connected_gene': 'HORMAD1', 'score': 50.37}, {'connected_gene': 'PIP5K1A', 'score': 49.81}, {'connected_gene': 'ARNT', 'score': 49.07}, {'connected_gene': 'GOLPH3L', 'score': 42.67}, {'connected_gene': 'PI4KB', 'score': 42.63}, {'connected_gene': 'UBE2D3P3', 'score': 39.42}, {'connected_gene': 'GABPB2', 'score': 31.01}, {'connected_gene': 'MRPL9', 'score': 28.65}, {'connected_gene': 'CTSK', 'score': 22.05}, {'connected_gene': 'PSMB4', 'score': 18.2}, {'connected_gene': 'RN7SL444P', 'score': 18.15}, {'connected_gene': 'ANXA9', 'score': 14.93}, {'connected_gene': 'RPS10P6', 'score': 11.8}, {'connected_gene': 'RPRD2', 'score': 10.96}, {'connected_gene': 'MCL1', 'score': 10.18}, {'connected_gene': 'APH1A', 'score': 9.87}, {'connected_gene': 'CDC42SE1', 'score': 8.67}, {'connected_gene': 'CTSS', 'score': 7.94}, {'connected_gene': 'MINDY1', 'score': 5.17}, {'connected_gene': 'LYSMD1', 'score': 4.59}, {'connected_gene': 'TNFAIP8L2', 'score': 4.16}, {'connected_gene': 'RFX5', 'score': 3.08}, {'connected_gene': 'POGZ', 'score': 2.64}, {'connected_gene': 'PRUNE1', 'score': 2.25}, {'connected_gene': 'SELENBP1', 'score': 1.09}, {'connected_gene': 'LOC105371438', 'score': 0.44}]
chr1	GH01I150763	150763474	150766497	2.29	[{'connected_gene': 'CTSS', 'score': 569.87}, {'connected_gene': 'HORMAD1', 'score': 57.58}, {'connected_gene': 'ARNT', 'score': 13.43}, {'connected_gene': 'MCL1', 'score': 10.3}, {'connected_gene': 'RPRD2', 'score': 10.09}, {'connected_gene': 'POGZ', 'score': 9.92}, {'connected_gene': 'LYSMD1', 'score': 9.87}, {'connected_gene': 'CDC42SE1', 'score': 5.39}, {'connected_gene': 'TNFAIP8L2', 'score': 5.16}, {'connected_gene': 'RPS27AP6', 'score': 4.15}, {'connected_gene': 'PRPF3', 'score': 2.56}, {'connected_gene': 'MINDY1', 'score': 2.18}]
chr1	GH01I151276	151276801	151278199	1.32	[{'connected_gene': 'BNIPL', 'score': 4.92}, {'connected_gene': 'CDC42SE1', 'score': 3.99}, {'connected_gene': 'ZNF687', 'score': 2.71}, {'connected_gene': 'TNFAIP8L2', 'score': 2.12}, {'connected_gene': 'PI4KB', 'score': 1.95}, {'connected_gene': 'RFX5', 'score': 1.93}, {'connected_gene': 'MINDY1', 'score': 1.29}, {'connected_gene': 'PSMD4', 'score': 0.34}]
chr1	GH01I151134	151134558	151137286	0.54	[{'connected_gene': 'BNIPL', 'score': 21.63}, {'connected_gene': 'GABPB2', 'score': 16.97}, {'connected_gene': 'SEMA6C', 'score': 13.11}, {'connected_gene': 'TNFAIP8L2', 'score': 11.82}, {'connected_gene': 'TMOD4', 'score': 11.15}, {'connected_gene': 'MINDY1', 'score': 11.0}, {'connected_gene': 'PRUNE1', 'score': 11.0}, {'connected_gene': 'SCNM1', 'score': 10.88}, {'connected_gene': 'LYSMD1', 'score': 10.84}, {'connected_gene': 'RNU6-884P', 'score': 10.66}, {'connected_gene': 'VPS72', 'score': 10.36}, {'connected_gene': 'PIP5K1A', 'score': 10.35}, {'connected_gene': 'PSMD4', 'score': 5.4}, {'connected_gene': 'ENSG00000261168', 'score': 0.77}]
chr1	GH01I151125	151125848	151126821	0.54	[{'connected_gene': 'BNIPL', 'score': 28.66}, {'connected_gene': 'SEMA6C', 'score': 11.44}, {'connected_gene': 'TNFAIP8L2', 'score': 11.01}, {'connected_gene': 'GABPB2', 'score': 10.87}, {'connected_gene': 'C1orf56', 'score': 10.87}, {'connected_gene': 'SCNM1', 'score': 10.54}, {'connected_gene': 'LYSMD1', 'score': 10.52}, {'connected_gene': 'MINDY1', 'score': 10.46}, {'connected_gene': 'PRUNE1', 'score': 10.46}, {'connected_gene': 'TMOD4', 'score': 10.3}, {'connected_gene': 'RNU6-884P', 'score': 10.2}, {'connected_gene': 'VPS72', 'score': 10.19}, {'connected_gene': 'PIP5K1A', 'score': 10.18}, {'connected_gene': 'PSMD4', 'score': 5.35}, {'connected_gene': 'ENSG00000261168', 'score': 0.44}, {'connected_gene': 'RPS29P29', 'score': 0.39}]
chr1	GH01I150156	150156799	150167065	1.78	[{'connected_gene': 'LOC105371433', 'score': 550.77}, {'connected_gene': 'PLEKHO1', 'score': 14.52}, {'connected_gene': 'SV2A', 'score': 11.02}, {'connected_gene': 'MTMR11', 'score': 10.42}, {'connected_gene': 'CA14', 'score': 9.88}, {'connected_gene': 'MCL1', 'score': 9.28}, {'connected_gene': 'PRPF3', 'score': 7.71}, {'connected_gene': 'MRPS21', 'score': 5.5}, {'connected_gene': 'ANP32E', 'score': 5.39}, {'connected_gene': 'RPRD2', 'score': 5.35}, {'connected_gene': 'TNFAIP8L2', 'score': 5.28}, {'connected_gene': 'CTSS', 'score': 5.15}, {'connected_gene': 'C1orf56', 'score': 4.79}, {'connected_gene': 'SEMA6C', 'score': 4.21}, {'connected_gene': 'GC01P150114', 'score': 0.25}, {'connected_gene': 'GC01P150213', 'score': 0.25}]
chr1	GH01I151156	151156125	151161039	1.82	[{'connected_gene': 'TNFAIP8L2-SCNM1', 'score': 550.77}, {'connected_gene': 'TNFAIP8L2', 'score': 550.77}, {'connected_gene': 'SCNM1', 'score': 550.77}, {'connected_gene': 'SEMA6C', 'score': 16.82}, {'connected_gene': 'BNIPL', 'score': 5.76}, {'connected_gene': 'LYSMD1', 'score': 0.44}]