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
ENST00000242819	[[52436116, 52436365], [52439467, 52440366]]	[[52439514, 52440216]]
NM_031290	[[52436083, 52436365], [52439467, 52440372]]	[[52439514, 52440216]]
NM_001346075	[[52436083, 52436365], [52439031, 52439120], [52439467, 52440372]]	[[52439514, 52440216]]

Promoter

Chrom	Start	End	Description
chr13	52436100	52436108	CAGE_peak_4_at_CCDC70_5end
chr13	52436111	52436122	CAGE_peak_3_at_CCDC70_5end
chr13	52436299	52436306	CAGE_peak_5_at_CCDC70_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
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	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	GH13I051896	51896405	51896554	0.6	[{'connected_gene': 'CCDC70', 'score': 11.86}, {'connected_gene': 'NEK5', 'score': 11.08}, {'connected_gene': 'PIR42261', 'score': 0.39}, {'connected_gene': 'ATP7B', 'score': 0.13}]
chr13	GH13I051861	51861920	51861979	0.9	[{'connected_gene': 'CCDC70', 'score': 550.77}, {'connected_gene': 'TMEM272', 'score': 0.37}]
chr13	GH13I051820	51820688	51828126	1.3	[{'connected_gene': 'DHRS12', 'score': 17.37}, {'connected_gene': 'ENSG00000231856', 'score': 12.69}, {'connected_gene': 'CCDC70', 'score': 10.99}, {'connected_gene': 'NEK5', 'score': 10.4}, {'connected_gene': 'WDFY2', 'score': 4.68}, {'connected_gene': 'TMEM272', 'score': 0.34}]
chr13	GH13I051828	51828707	51829344	0.4	[{'connected_gene': 'DHRS12', 'score': 12.69}, {'connected_gene': 'ENSG00000231856', 'score': 12.67}, {'connected_gene': 'CCDC70', 'score': 10.98}, {'connected_gene': 'TMEM272', 'score': 0.37}]
chr13	GH13I051832	51832401	51832826	1.03	[{'connected_gene': 'DHRS12', 'score': 12.72}, {'connected_gene': 'ENSG00000231856', 'score': 12.72}, {'connected_gene': 'CCDC70', 'score': 11.2}, {'connected_gene': 'TMEM272', 'score': 0.39}]
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	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	GH13I052186	52186866	52189207	1.03	[{'connected_gene': 'NEK3', 'score': 18.07}, {'connected_gene': 'NEK5', 'score': 10.74}, {'connected_gene': 'CCDC70', 'score': 10.52}, {'connected_gene': 'ALG11', 'score': 10.5}, {'connected_gene': 'VPS36', 'score': 10.48}, {'connected_gene': 'ATP7B', 'score': 10.46}, {'connected_gene': 'DHRS12', 'score': 10.04}, {'connected_gene': 'ENSG00000231856', 'score': 10.04}, {'connected_gene': 'ENSG00000244471', 'score': 5.28}, {'connected_gene': 'MRPS31P5', 'score': 0.44}, {'connected_gene': 'PIR59389', 'score': 0.37}, {'connected_gene': 'ENSG00000217576', 'score': 0.15}]
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	GH13I051844	51844745	51845787	1.03	[{'connected_gene': 'TMEM272', 'score': 550.77}, {'connected_gene': 'CCDC70', 'score': 0.37}]
chr13	GH13I052210	52210735	52212092	0.65	[{'connected_gene': 'CKAP2', 'score': 26.45}, {'connected_gene': 'TPTE2P2', 'score': 15.12}, {'connected_gene': 'CCDC70', 'score': 10.85}, {'connected_gene': 'TPTE2P3', 'score': 7.41}, {'connected_gene': 'ENSG00000244471', 'score': 5.29}, {'connected_gene': 'PIR51896', 'score': 0.37}, {'connected_gene': 'MRPS31P5', 'score': 0.37}, {'connected_gene': 'ENSG00000217576', 'score': 0.18}]
chr13	GH13I051286	51286333	51286725	0.99	[{'connected_gene': 'FAM124A', 'score': 11.57}, {'connected_gene': 'CCDC70', 'score': 9.38}, {'connected_gene': 'GC13P051260', 'score': 0.31}, {'connected_gene': 'SERPINE3', 'score': 0.25}]
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}]