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
ENST00000368439	[[154947128, 154947388], [154950462, 154950590], [154951200, 154951724]]	[[154947377, 154947388], [154950462, 154950590], [154951200, 154951253]]
ENST00000368436	[[154947158, 154947280], [154950462, 154951160]]	[[154947221, 154947280], [154950462, 154950607]]
ENST00000308987	[[154947174, 154947280], [154950462, 154950590], [154951200, 154951725]]	[[154947221, 154947280], [154950462, 154950590], [154951200, 154951253]]
ENST00000477676	[[154947507, 154947580], [154950462, 154950590], [154951200, 154951601]]	None
ENST00000474215	[[154948006, 154948100], [154950462, 154950590], [154951200, 154951717]]	None
ENST00000473344	[[154948014, 154948084], [154950462, 154950590], [154951200, 154951392]]	None
ENST00000471245	[[154949774, 154950590], [154951200, 154951550]]	None
NM_001826	[[154947117, 154947280], [154950462, 154950590], [154951200, 154951725]]	[[154947221, 154947280], [154950462, 154950590], [154951200, 154951253]]
NR_024163	[[154947117, 154947388], [154950462, 154950590], [154951200, 154951725]]	None

Promoter

Chrom	Start	End	Description
chr1	154947126	154947147	CAGE_peak_2_at_CKS1B_5end
chr1	154947148	154947175	CAGE_peak_1_at_CKS1B_5end
chr1	154947553	154947581	CAGE_peak_3_at_CKS1B_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I154965	154965941	154978166	2.34	[{'connected_gene': 'SHC1', 'score': 583.74}, {'connected_gene': 'CKS1B', 'score': 550.77}, {'connected_gene': 'GON4L', 'score': 82.6}, {'connected_gene': 'UBAP2L', 'score': 81.13}, {'connected_gene': 'CLK2', 'score': 57.05}, {'connected_gene': 'KHDC4', 'score': 45.59}, {'connected_gene': 'THBS3', 'score': 42.82}, {'connected_gene': 'ENSG00000271267', 'score': 34.17}, {'connected_gene': 'KRTCAP2', 'score': 32.13}, {'connected_gene': 'FLAD1', 'score': 31.52}, {'connected_gene': 'YY1AP1', 'score': 31.41}, {'connected_gene': 'DCST1', 'score': 28.75}, {'connected_gene': 'RUSC1-AS1', 'score': 26.8}, {'connected_gene': 'MSTO1', 'score': 21.31}, {'connected_gene': 'MSTO2P', 'score': 20.79}, {'connected_gene': 'LOC101928120', 'score': 19.18}, {'connected_gene': 'RPS27', 'score': 19.05}, {'connected_gene': 'SLC50A1', 'score': 18.4}, {'connected_gene': 'DCST2', 'score': 12.67}, {'connected_gene': 'ASH1L', 'score': 10.89}, {'connected_gene': 'ENSG00000246203', 'score': 10.85}, {'connected_gene': 'ADAM15', 'score': 10.63}, {'connected_gene': 'DCST1-AS1', 'score': 10.61}, {'connected_gene': 'ASH1L-AS1', 'score': 10.44}, {'connected_gene': 'RIT1', 'score': 10.17}, {'connected_gene': 'EFNA4', 'score': 10.02}, {'connected_gene': 'DAP3', 'score': 5.42}, {'connected_gene': 'KCNN3', 'score': 5.06}, {'connected_gene': 'FDPS', 'score': 4.99}, {'connected_gene': 'ENSG00000231064', 'score': 4.57}, {'connected_gene': 'MIR4258', 'score': 0.77}, {'connected_gene': 'PYGO2', 'score': 0.44}]
chr1	GH01I153984	153984482	153987861	2	[{'connected_gene': 'RAB13', 'score': 550.77}, {'connected_gene': 'S100A4', 'score': 12.02}, {'connected_gene': 'ILF2', 'score': 10.78}, {'connected_gene': 'CHTOP', 'score': 10.77}, {'connected_gene': 'S100A16', 'score': 10.75}, {'connected_gene': 'CREB3L4', 'score': 10.25}, {'connected_gene': 'CKS1B', 'score': 10.08}, {'connected_gene': 'S100A3', 'score': 9.78}, {'connected_gene': 'HAX1', 'score': 4.36}, {'connected_gene': 'GC01P153977', 'score': 0.44}]
chr1	GH01I154998	154998814	155010088	2.67	[{'connected_gene': 'ZBTB7B', 'score': 571.61}, {'connected_gene': 'GON4L', 'score': 93.39}, {'connected_gene': 'CLK2', 'score': 91.42}, {'connected_gene': 'UBAP2L', 'score': 79.31}, {'connected_gene': 'KHDC4', 'score': 68.73}, {'connected_gene': 'ENSG00000271267', 'score': 60.04}, {'connected_gene': 'RUSC1-AS1', 'score': 44.78}, {'connected_gene': 'MSTO1', 'score': 44.46}, {'connected_gene': 'THBS3', 'score': 40.85}, {'connected_gene': 'MSTO2P', 'score': 35.49}, {'connected_gene': 'SHC1', 'score': 32.19}, {'connected_gene': 'FLAD1', 'score': 30.8}, {'connected_gene': 'YY1AP1', 'score': 28.63}, {'connected_gene': 'ASH1L-AS1', 'score': 28.1}, {'connected_gene': 'DCST1', 'score': 24.65}, {'connected_gene': 'LOC101928120', 'score': 19.88}, {'connected_gene': 'ASH1L', 'score': 19.06}, {'connected_gene': 'KRTCAP2', 'score': 19.05}, {'connected_gene': 'DCST2', 'score': 17.03}, {'connected_gene': 'DPM3', 'score': 12.44}, {'connected_gene': 'ADAR', 'score': 12.39}, {'connected_gene': 'SLC50A1', 'score': 10.1}, {'connected_gene': 'MTX1', 'score': 2.99}, {'connected_gene': 'PYGO2', 'score': 1.93}, {'connected_gene': 'CKS1B', 'score': 1.49}, {'connected_gene': 'PBXIP1', 'score': 1.43}, {'connected_gene': 'GC01M154997', 'score': 0.77}, {'connected_gene': 'GC01P155005', 'score': 0.77}]
chr1	GH01I155123	155123683	155132362	2.56	[{'connected_gene': 'EFNA1', 'score': 564.37}, {'connected_gene': 'KHDC4', 'score': 54.29}, {'connected_gene': 'GON4L', 'score': 50.87}, {'connected_gene': 'CLK2', 'score': 49.54}, {'connected_gene': 'UBAP2L', 'score': 38.75}, {'connected_gene': 'MSTO1', 'score': 37.46}, {'connected_gene': 'ENSG00000271267', 'score': 37.25}, {'connected_gene': 'MSTO2P', 'score': 31.07}, {'connected_gene': 'LOC101928120', 'score': 29.75}, {'connected_gene': 'RUSC1-AS1', 'score': 25.38}, {'connected_gene': 'SHC1', 'score': 23.56}, {'connected_gene': 'THBS3', 'score': 23.26}, {'connected_gene': 'LMNA', 'score': 19.89}, {'connected_gene': 'KRTCAP2', 'score': 18.9}, {'connected_gene': 'ASH1L-AS1', 'score': 18.85}, {'connected_gene': 'PYGO2', 'score': 15.25}, {'connected_gene': 'GBAP1', 'score': 14.62}, {'connected_gene': 'FLAD1', 'score': 13.41}, {'connected_gene': 'SSR2', 'score': 12.44}, {'connected_gene': 'DPM3', 'score': 12.08}, {'connected_gene': 'YY1AP1', 'score': 10.83}, {'connected_gene': 'ATP8B2', 'score': 10.44}, {'connected_gene': 'CKS1B', 'score': 10.16}, {'connected_gene': 'ADAM15', 'score': 7.73}, {'connected_gene': 'GBA', 'score': 6.1}, {'connected_gene': 'POU5F1P4', 'score': 4.36}, {'connected_gene': 'PKLR', 'score': 1.71}, {'connected_gene': 'EFNA4', 'score': 1.35}, {'connected_gene': 'SLC50A1', 'score': 0.44}]