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
ENST00000521776	[[52598826, 52599073], [52602454, 52607736]]	[[52602940, 52605241]]
NM_021645	[[52598826, 52599073], [52602454, 52607736]]	[[52602940, 52605241]]

Promoter

Chrom	Start	End	Description
chr13	52586517	52586559	CAGE_peak_1_at_ALG11_5end,CAGE_peak_1_at_UTP14C_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr13	GH13I052024	52024615	52024674	0.61	[{'connected_gene': 'UTP14C', 'score': 550.77}, {'connected_gene': 'TPTE2P2', 'score': 13.92}, {'connected_gene': 'ALG11', 'score': 0.39}]
chr13	GH13I052061	52061665	52061814	0.2	[{'connected_gene': 'UTP14C', 'score': 11.87}, {'connected_gene': 'ALG11', 'score': 11.84}, {'connected_gene': 'CCDC70', 'score': 10.13}, {'connected_gene': 'PIR48020', 'score': 0.29}, {'connected_gene': 'GC13P052032', 'score': 0.29}, {'connected_gene': 'NEK5', 'score': 0.2}, {'connected_gene': 'LOC101929657', 'score': 0.2}]
chr13	GH13I052022	52022485	52022634	0.52	[{'connected_gene': 'UTP14C', 'score': 0.77}, {'connected_gene': 'ALG11', 'score': 0.39}]
chr13	GH13I052001	52001285	52001394	0.6	[{'connected_gene': 'UTP14C', 'score': 12.17}, {'connected_gene': 'NEK5', 'score': 10.68}, {'connected_gene': 'DHRS12', 'score': 9.29}, {'connected_gene': 'ENSG00000231856', 'score': 9.29}, {'connected_gene': 'ATP7B', 'score': 0.39}, {'connected_gene': 'FABP5P2', 'score': 0.29}]
chr13	GH13I051522	51522716	51526385	1.17	[{'connected_gene': 'UTP14C', 'score': 12.02}, {'connected_gene': 'WDFY2', 'score': 4.62}, {'connected_gene': 'SNRPGP11', 'score': 0.31}, {'connected_gene': 'MIR4703', 'score': 0.31}, {'connected_gene': 'INTS6-AS1', 'score': 0.19}]
chr13	GH13I051541	51541563	51541573	0.22	[{'connected_gene': 'UTP14C', 'score': 1.53}, {'connected_gene': 'MIR4703', 'score': 0.39}, {'connected_gene': 'SNRPGP11', 'score': 0.25}, {'connected_gene': 'INTS6-AS1', 'score': 0.17}]
chr13	GH13I051839	51839364	51840062	0.31	[{'connected_gene': 'CCDC70', 'score': 13.21}, {'connected_gene': 'DHRS12', 'score': 11.63}, {'connected_gene': 'ENSG00000231856', 'score': 11.63}, {'connected_gene': 'ALG11', 'score': 10.22}, {'connected_gene': 'UTP14C', 'score': 10.21}, {'connected_gene': 'NEK5', 'score': 9.95}, {'connected_gene': 'FAM124A', 'score': 9.2}, {'connected_gene': 'VPS36', 'score': 4.72}, {'connected_gene': 'TMEM272', 'score': 0.44}]
chr13	GH13I051995	51995245	52000247	1.17	[{'connected_gene': 'ATP7B', 'score': 39.34}, {'connected_gene': 'NEK3', 'score': 19.14}, {'connected_gene': 'NEK5', 'score': 17.85}, {'connected_gene': 'TPTE2P2', 'score': 13.16}, {'connected_gene': 'UTP14C', 'score': 12.14}, {'connected_gene': 'CCDC70', 'score': 10.15}, {'connected_gene': 'DHRS12', 'score': 9.3}, {'connected_gene': 'ENSG00000231856', 'score': 9.3}, {'connected_gene': 'FABP5P2', 'score': 0.29}]
chr13	GH13I051981	51981054	51982114	0.49	[{'connected_gene': 'ATP7B', 'score': 34.18}, {'connected_gene': 'ALG11', 'score': 11.57}, {'connected_gene': 'UTP14C', 'score': 11.54}, {'connected_gene': 'NEK5', 'score': 10.71}, {'connected_gene': 'CKAP2', 'score': 9.15}, {'connected_gene': 'FABP5P2', 'score': 0.39}]
chr13	GH13I052070	52070801	52071201	0.91	[{'connected_gene': 'ATP7B', 'score': 46.56}, {'connected_gene': 'NEK5', 'score': 10.71}, {'connected_gene': 'ALG11', 'score': 10.42}, {'connected_gene': 'UTP14C', 'score': 10.26}, {'connected_gene': 'PIR48020', 'score': 0.26}, {'connected_gene': 'GC13P052032', 'score': 0.26}, {'connected_gene': 'LOC101929657', 'score': 0.22}]
chr13	GH13I052427	52427089	52430047	0.64	[{'connected_gene': 'VPS36', 'score': 32.7}, {'connected_gene': 'TPTE2P2', 'score': 15.16}, {'connected_gene': 'THSD1', 'score': 12.58}, {'connected_gene': 'CKAP2', 'score': 12.21}, {'connected_gene': 'UTP14C', 'score': 9.54}, {'connected_gene': 'ALG11', 'score': 9.54}, {'connected_gene': 'NEK5', 'score': 6.74}]
chr13	GH13I051943	51943495	51944482	0.38	[{'connected_gene': 'VPS36', 'score': 11.82}, {'connected_gene': 'ATP7B', 'score': 11.47}, {'connected_gene': 'ALG11', 'score': 11.47}, {'connected_gene': 'UTP14C', 'score': 11.34}, {'connected_gene': 'CCDC70', 'score': 10.69}, {'connected_gene': 'ENSG00000279677', 'score': 0.34}, {'connected_gene': 'FABP5P2', 'score': 0.34}]
chr13	GH13I051941	51941826	51942769	0.51	[{'connected_gene': 'VPS36', 'score': 11.85}, {'connected_gene': 'ATP7B', 'score': 11.47}, {'connected_gene': 'ALG11', 'score': 11.46}, {'connected_gene': 'UTP14C', 'score': 11.34}, {'connected_gene': 'NEK3', 'score': 11.21}, {'connected_gene': 'CCDC70', 'score': 10.69}, {'connected_gene': 'ENSG00000279677', 'score': 0.34}, {'connected_gene': 'FABP5P2', 'score': 0.34}]
chr13	GH13I052108	52108635	52110054	0.38	[{'connected_gene': 'NEK3', 'score': 19.68}, {'connected_gene': 'UTP14C', 'score': 10.85}, {'connected_gene': 'ALG11', 'score': 10.83}, {'connected_gene': 'CCDC70', 'score': 9.88}, {'connected_gene': 'LOC101929657', 'score': 0.37}, {'connected_gene': 'NEK5', 'score': 0.34}, {'connected_gene': 'GC13P052032', 'score': 0.18}, {'connected_gene': 'PIR48020', 'score': 0.18}]
chr13	GH13I051969	51969737	51972553	0.96	[{'connected_gene': 'NEK3', 'score': 15.54}, {'connected_gene': 'UTP14C', 'score': 12.58}, {'connected_gene': 'ALG11', 'score': 11.19}, {'connected_gene': 'NEK5', 'score': 10.12}, {'connected_gene': 'CKAP2', 'score': 10.04}, {'connected_gene': 'FABP5P2', 'score': 0.77}, {'connected_gene': 'ATP7B', 'score': 0.26}]
chr13	GH13I052087	52087642	52088266	0.72	[{'connected_gene': 'NEK3', 'score': 24.22}, {'connected_gene': 'TPTE2P2', 'score': 12.64}, {'connected_gene': 'UTP14C', 'score': 11.36}, {'connected_gene': 'ALG11', 'score': 11.33}, {'connected_gene': 'NEK5', 'score': 11.04}, {'connected_gene': 'ATP7B', 'score': 10.65}, {'connected_gene': 'DHRS12', 'score': 9.48}, {'connected_gene': 'ENSG00000231856', 'score': 9.48}, {'connected_gene': 'LOC101929657', 'score': 0.26}, {'connected_gene': 'GC13P052032', 'score': 0.22}, {'connected_gene': 'PIR48020', 'score': 0.22}]
chr13	GH13I051977	51977756	51980327	0.87	[{'connected_gene': 'NEK3', 'score': 17.25}, {'connected_gene': 'ALG11', 'score': 11.57}, {'connected_gene': 'UTP14C', 'score': 11.53}, {'connected_gene': 'ATP7B', 'score': 11.15}, {'connected_gene': 'NEK5', 'score': 10.27}, {'connected_gene': 'FABP5P2', 'score': 0.39}]
chr13	GH13I052085	52085109	52085983	0.2	[{'connected_gene': 'NEK3', 'score': 24.22}, {'connected_gene': 'NEK5', 'score': 11.39}, {'connected_gene': 'ATP7B', 'score': 11.07}, {'connected_gene': 'ALG11', 'score': 11.07}, {'connected_gene': 'UTP14C', 'score': 10.96}, {'connected_gene': 'CCDC70', 'score': 9.91}, {'connected_gene': 'LOC101929657', 'score': 0.26}, {'connected_gene': 'GC13P052032', 'score': 0.22}, {'connected_gene': 'PIR48020', 'score': 0.22}]
chr13	GH13I051315	51315058	51316354	0.82	[{'connected_gene': 'ALG11', 'score': 35.64}, {'connected_gene': 'INTS6', 'score': 18.61}, {'connected_gene': 'SERPINE3', 'score': 12.26}, {'connected_gene': 'UTP14C', 'score': 11.4}, {'connected_gene': 'FAM124A', 'score': 11.15}, {'connected_gene': 'RNASEH2B', 'score': 10.3}, {'connected_gene': 'GC13P051260', 'score': 0.23}]
chr13	GH13I052174	52174001	52174367	0.51	[{'connected_gene': 'NEK5', 'score': 10.73}, {'connected_gene': 'UTP14C', 'score': 9.83}, {'connected_gene': 'ALG11', 'score': 9.81}, {'connected_gene': 'PIR59389', 'score': 0.44}, {'connected_gene': 'MRPS31P5', 'score': 0.34}, {'connected_gene': 'ENSG00000217576', 'score': 0.13}]
chr13	GH13I051963	51963734	51964064	0.25	[{'connected_gene': 'NEK5', 'score': 11.41}, {'connected_gene': 'ATP7B', 'score': 11.06}, {'connected_gene': 'ALG11', 'score': 11.06}, {'connected_gene': 'UTP14C', 'score': 6.11}, {'connected_gene': 'FABP5P2', 'score': 0.77}, {'connected_gene': 'ENSG00000279677', 'score': 0.26}]
chr13	GH13I052170	52170677	52171728	0.51	[{'connected_gene': 'CKAP2', 'score': 31.56}, {'connected_gene': 'NEK5', 'score': 10.73}, {'connected_gene': 'UTP14C', 'score': 9.83}, {'connected_gene': 'ALG11', 'score': 9.82}, {'connected_gene': 'PIR59389', 'score': 0.77}, {'connected_gene': 'MRPS31P5', 'score': 0.34}, {'connected_gene': 'ENSG00000217576', 'score': 0.13}]
chr13	GH13I051450	51450244	51455871	2.28	[{'connected_gene': 'RPS4XP16', 'score': 560.67}, {'connected_gene': 'INTS6', 'score': 550.77}, {'connected_gene': 'INTS6-AS1', 'score': 550.77}, {'connected_gene': 'MRPS31P5', 'score': 19.8}, {'connected_gene': 'SERPINE3', 'score': 19.34}, {'connected_gene': 'DHRS12', 'score': 10.82}, {'connected_gene': 'ENSG00000231856', 'score': 10.82}, {'connected_gene': 'UTP14C', 'score': 10.46}, {'connected_gene': 'ALG11', 'score': 9.98}]
chr13	GH13I051257	51257208	51257813	0.43	[{'connected_gene': 'FAM124A', 'score': 19.07}, {'connected_gene': 'UTP14C', 'score': 4.91}, {'connected_gene': 'GC13P051260', 'score': 0.77}, {'connected_gene': 'GC13P051237', 'score': 0.34}]
chr13	GH13I052616	52616457	52618600	1.83	[{'connected_gene': 'HNRNPA1L2', 'score': 550.77}, {'connected_gene': 'TPTE2P2', 'score': 15.06}, {'connected_gene': 'UTP14C', 'score': 13.26}, {'connected_gene': 'ALG11', 'score': 13.13}, {'connected_gene': 'ENSG00000273784', 'score': 0.37}, {'connected_gene': 'MRPS31P4', 'score': 0.37}, {'connected_gene': 'ENSG00000273723', 'score': 0.29}]
chr13	GH13I052650	52650759	52654491	2.09	[{'connected_gene': 'SUGT1', 'score': 550.77}, {'connected_gene': 'ENSG00000273723', 'score': 550.77}, {'connected_gene': 'ALG11', 'score': 22.32}, {'connected_gene': 'CKAP2', 'score': 22.29}, {'connected_gene': 'TPTE2P2', 'score': 16.04}, {'connected_gene': 'UTP14C', 'score': 10.46}]
chr13	GH13I052193	52193319	52196000	2.06	[{'connected_gene': 'MRPS31P5', 'score': 570.55}, {'connected_gene': 'ALG11', 'score': 54.8}, {'connected_gene': 'RPS4XP16', 'score': 40.0}, {'connected_gene': 'UTP14C', 'score': 38.07}, {'connected_gene': 'SUGT1', 'score': 38.02}, {'connected_gene': 'CKAP2', 'score': 34.32}, {'connected_gene': 'INTS6', 'score': 27.12}, {'connected_gene': 'SERPINE3', 'score': 22.39}, {'connected_gene': 'INTS6-AS1', 'score': 21.06}, {'connected_gene': 'TPTE2P2', 'score': 15.11}, {'connected_gene': 'NEK5', 'score': 12.35}, {'connected_gene': 'CTAGE3P', 'score': 12.2}, {'connected_gene': 'ATP7B', 'score': 11.69}, {'connected_gene': 'VPS36', 'score': 9.95}, {'connected_gene': 'HNRNPA1L2', 'score': 9.93}, {'connected_gene': 'PIR51896', 'score': 0.29}, {'connected_gene': 'ENSG00000217576', 'score': 0.15}]
chr13	GH13I051906	51906665	51906814	0.57	[{'connected_gene': 'PIR42261', 'score': 550.77}, {'connected_gene': 'NEK5', 'score': 10.92}, {'connected_gene': 'CCDC70', 'score': 10.77}, {'connected_gene': 'ALG11', 'score': 10.76}, {'connected_gene': 'UTP14C', 'score': 10.75}, {'connected_gene': 'ATP7B', 'score': 0.14}]
chr13	GH13I051259	51259359	51259922	0.31	[{'connected_gene': 'GC13P051260', 'score': 550.77}, {'connected_gene': 'FAM124A', 'score': 18.4}, {'connected_gene': 'UTP14C', 'score': 4.5}, {'connected_gene': 'GC13P051237', 'score': 0.34}]