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
ENST00000587023	[[41102542, 41102745], [41103816, 41104152]]	None
ENST00000593123	[[41102542, 41102745], [41103816, 41103911], [41105740, 41106093]]	None
ENST00000592136	[[41102542, 41102745], [41103816, 41103911], [41106892, 41107051]]	None
ENST00000486493	[[41102542, 41102745], [41106892, 41106984], [41107174, 41107278]]	None
ENST00000591096	[[41102542, 41102745], [41103816, 41103911], [41106892, 41106984], [41107174, 41107241], [41107858, 41107963]]	[[41103892, 41103911], [41106892, 41106984], [41107174, 41107241], [41107858, 41107963]]
ENST00000474578	[[41102549, 41102745], [41103817, 41103911], [41105740, 41105795], [41106892, 41106984], [41107174, 41107362]]	None
ENST00000427569	[[41102562, 41102745], [41103816, 41103911], [41105740, 41105795], [41106892, 41106984], [41107174, 41107241], [41107858, 41107989], [41108220, 41108337], [41108420, 41108577], [41109154, 41109212], [41113208, 41113368], [41116122, 41116254], [41116418, 41116493]]	[[41102609, 41102745], [41103816, 41103911], [41105740, 41105795], [41106892, 41106984], [41107174, 41107241], [41107858, 41107989], [41108220, 41108337], [41108420, 41108577], [41109154, 41109212], [41113208, 41113368], [41116122, 41116254], [41116418, 41116457]]
ENST00000483535	[[41106865, 41106984], [41107174, 41107473]]	None
ENST00000486664	[[41107106, 41107384], [41107858, 41107989], [41108220, 41108337], [41108420, 41108542]]	None
ENST00000478040	[[41107290, 41107384], [41107858, 41107989], [41108220, 41108556]]	None
ENST00000491665	[[41107455, 41107989], [41108220, 41108337], [41108420, 41108531]]	None
ENST00000450475	[[41107871, 41107989], [41108220, 41108332], [41108414, 41108577], [41109154, 41109212], [41113208, 41113368], [41116122, 41116254], [41116459, 41116499]]	[[41108314, 41108332], [41108414, 41108577], [41109154, 41109212], [41113208, 41113224]]
ENST00000441280	[[41107903, 41108337], [41108420, 41108577], [41109154, 41109212], [41113208, 41113368], [41116122, 41116254], [41116418, 41116460]]	None
ENST00000430739	[[41107917, 41107989], [41108220, 41108337], [41108420, 41108577], [41109154, 41109212], [41113208, 41113368], [41116122, 41116254], [41116459, 41116515]]	[[41107917, 41107989], [41108220, 41108337], [41108420, 41108577], [41109154, 41109212], [41113208, 41113224]]
ENST00000591910	[[41107946, 41107989], [41108220, 41108337], [41108420, 41108521], [41109154, 41109212], [41113208, 41113368], [41114191, 41114289], [41116122, 41116254], [41116418, 41116435]]	[[41114199, 41114289], [41116122, 41116254], [41116418, 41116435]]
ENST00000483774	[[41108044, 41108577], [41109154, 41109549]]	None
ENST00000436545	[[41108421, 41108577], [41109154, 41109212], [41113208, 41113368], [41114191, 41114312], [41116122, 41116254], [41116418, 41116471]]	[[41113363, 41113368], [41114191, 41114312], [41116122, 41116254], [41116418, 41116457]]
ENST00000416949	[[41108430, 41108521], [41109154, 41109212], [41113208, 41113368], [41116122, 41116254], [41116459, 41116496]]	None
ENST00000492036	[[41112958, 41113368], [41116122, 41116254], [41116459, 41116483]]	None
NM_001261434	[[41102542, 41102745], [41103816, 41103911], [41105740, 41105795], [41106892, 41106984], [41107174, 41107241], [41107858, 41107989], [41108220, 41108337], [41108420, 41108577], [41109154, 41109212], [41113208, 41113368], [41116122, 41116254], [41116418, 41116515]]	[[41102609, 41102745], [41103816, 41103911], [41105740, 41105795], [41106892, 41106984], [41107174, 41107241], [41107858, 41107989], [41108220, 41108337], [41108420, 41108577], [41109154, 41109212], [41113208, 41113368], [41116122, 41116254], [41116418, 41116457]]

Promoter

Chrom	Start	End	Description
chr17	41116454	41116497	CAGE_peak_1_at_AARSD1_5end
chr17	41132021	41132031	CAGE_peak_5_at_AARSD1_5end
chr17	41132088	41132107	CAGE_peak_2_at_AARSD1_5end
chr17	41132110	41132136	CAGE_peak_3_at_AARSD1_5end
chr17	41132410	41132418	CAGE_peak_8_at_AARSD1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I042963	42963446	42965776	2.02	[{'connected_gene': 'AARSD1', 'score': 550.77}, {'connected_gene': 'NKIRAS2', 'score': 15.45}, {'connected_gene': 'MEOX1', 'score': 14.91}, {'connected_gene': 'CD300LG', 'score': 10.55}, {'connected_gene': 'STAT3', 'score': 10.5}, {'connected_gene': 'RPL27', 'score': 8.2}, {'connected_gene': 'GC17M042976', 'score': 0.39}, {'connected_gene': 'PTGES3L-AARSD1', 'score': 0.37}]
chr17	GH17I043905	43905533	43908634	1.96	[{'connected_gene': 'MPP2', 'score': 587.25}, {'connected_gene': 'ENSG00000267340', 'score': 20.12}, {'connected_gene': 'DHX8', 'score': 16.49}, {'connected_gene': 'TMUB2', 'score': 16.18}, {'connected_gene': 'HMGN1P29', 'score': 14.52}, {'connected_gene': 'ENSG00000267002', 'score': 13.19}, {'connected_gene': 'ASB16-AS1', 'score': 13.07}, {'connected_gene': 'C17orf53', 'score': 12.43}, {'connected_gene': 'LINC00910', 'score': 11.33}, {'connected_gene': 'NBR2', 'score': 10.45}, {'connected_gene': 'UBTF', 'score': 10.38}, {'connected_gene': 'AARSD1', 'score': 9.94}, {'connected_gene': 'EFTUD2', 'score': 9.93}, {'connected_gene': 'GC17P043880', 'score': 0.31}]
chr17	GH17I042336	42336966	42338004	0.97	[{'connected_gene': 'CAVIN1', 'score': 11.65}, {'connected_gene': 'RNU7-97P', 'score': 10.93}, {'connected_gene': 'ATP6V0A1', 'score': 10.69}, {'connected_gene': 'AARSD1', 'score': 5.01}, {'connected_gene': 'LOC105371781', 'score': 4.85}, {'connected_gene': 'GC17M042314', 'score': 0.34}, {'connected_gene': 'GC17M042386', 'score': 0.23}, {'connected_gene': 'STAT3', 'score': 0.23}]
chr17	GH17I042584	42584915	42585632	0.4	[{'connected_gene': 'TUBG2', 'score': 32.5}, {'connected_gene': 'TUBG1', 'score': 11.74}, {'connected_gene': 'RETREG3', 'score': 11.71}, {'connected_gene': 'AARSD1', 'score': 10.32}, {'connected_gene': 'RUNDC1', 'score': 10.32}, {'connected_gene': 'PTGES3L-AARSD1', 'score': 10.32}, {'connected_gene': 'CNTD1', 'score': 10.05}, {'connected_gene': 'COA3', 'score': 10.05}, {'connected_gene': 'PIR42459', 'score': 0.77}, {'connected_gene': 'ENSG00000280183', 'score': 0.39}]
chr17	GH17I042586	42586256	42588262	0.49	[{'connected_gene': 'TUBG2', 'score': 33.35}, {'connected_gene': 'TUBG1', 'score': 11.74}, {'connected_gene': 'RETREG3', 'score': 11.74}, {'connected_gene': 'AARSD1', 'score': 10.32}, {'connected_gene': 'RUNDC1', 'score': 10.32}, {'connected_gene': 'PTGES3L-AARSD1', 'score': 10.32}, {'connected_gene': 'CNTD1', 'score': 10.05}, {'connected_gene': 'COA3', 'score': 10.05}, {'connected_gene': 'PIR42459', 'score': 0.44}, {'connected_gene': 'ENSG00000280183', 'score': 0.39}]
chr17	GH17I042823	42823221	42824933	2.04	[{'connected_gene': 'MIR6781', 'score': 550.77}, {'connected_gene': 'PSME3', 'score': 550.77}, {'connected_gene': 'BECN1', 'score': 550.44}, {'connected_gene': 'CNTD1', 'score': 11.97}, {'connected_gene': 'COA3', 'score': 11.97}, {'connected_gene': 'AOC2', 'score': 11.76}, {'connected_gene': 'AOC3', 'score': 11.73}, {'connected_gene': 'VPS25', 'score': 11.55}, {'connected_gene': 'RAMP2-AS1', 'score': 11.53}, {'connected_gene': 'RAMP2', 'score': 11.52}, {'connected_gene': 'HMGN2P15', 'score': 11.51}, {'connected_gene': 'WNK4', 'score': 11.41}, {'connected_gene': 'AARSD1', 'score': 11.15}, {'connected_gene': 'RUNDC1', 'score': 11.14}, {'connected_gene': 'PTGES3L-AARSD1', 'score': 11.14}]
chr17	GH17I042953	42953310	42954460	0.49	[{'connected_gene': 'NBR2', 'score': 25.28}, {'connected_gene': 'RPL27', 'score': 20.12}, {'connected_gene': 'RUNDC1', 'score': 12.65}, {'connected_gene': 'PTGES3L-AARSD1', 'score': 12.65}, {'connected_gene': 'AOC3', 'score': 11.75}, {'connected_gene': 'AOC2', 'score': 11.75}, {'connected_gene': 'CNTD1', 'score': 10.64}, {'connected_gene': 'COA3', 'score': 10.64}, {'connected_gene': 'IFI35', 'score': 5.59}, {'connected_gene': 'GC17P043418', 'score': 0.77}, {'connected_gene': 'AARSD1', 'score': 0.39}]
chr17	GH17I043010	43010125	43012345	1.41	[{'connected_gene': 'NBR2', 'score': 21.31}, {'connected_gene': 'RUNDC1', 'score': 11.8}, {'connected_gene': 'PTGES3L-AARSD1', 'score': 11.8}, {'connected_gene': 'AARSD1', 'score': 11.76}, {'connected_gene': 'MLX', 'score': 9.26}, {'connected_gene': 'CNTD1', 'score': 8.84}, {'connected_gene': 'RPL29P31', 'score': 5.58}, {'connected_gene': 'NBR1', 'score': 5.29}, {'connected_gene': 'ETV4', 'score': 1.37}, {'connected_gene': 'TUBG1', 'score': 1.35}, {'connected_gene': 'IFI35', 'score': 0.77}, {'connected_gene': 'VAT1', 'score': 0.39}]
chr17	GH17I043014	43014025	43016590	0.63	[{'connected_gene': 'NBR2', 'score': 24.93}, {'connected_gene': 'RUNDC1', 'score': 11.8}, {'connected_gene': 'PTGES3L-AARSD1', 'score': 11.8}, {'connected_gene': 'AARSD1', 'score': 11.74}, {'connected_gene': 'IFI35', 'score': 5.93}, {'connected_gene': 'VAT1', 'score': 0.44}]
chr17	GH17I042979	42979100	42982024	2.04	[{'connected_gene': 'PTGES3L', 'score': 555.42}, {'connected_gene': 'RUNDC1', 'score': 550.77}, {'connected_gene': 'PTGES3L-AARSD1', 'score': 550.77}, {'connected_gene': 'HMGN2P15', 'score': 10.22}, {'connected_gene': 'RPL27', 'score': 8.26}, {'connected_gene': 'IFI35', 'score': 6.26}, {'connected_gene': 'AARSD1', 'score': 4.88}, {'connected_gene': 'PIR51537', 'score': 0.39}]
chr17	GH17I043322	43322342	43323983	1.54	[{'connected_gene': 'ENSG00000267340', 'score': 256.33}, {'connected_gene': 'UBTF', 'score': 244.63}, {'connected_gene': 'ASB16-AS1', 'score': 222.28}, {'connected_gene': 'ENSG00000267002', 'score': 201.04}, {'connected_gene': 'DHX8', 'score': 168.46}, {'connected_gene': 'HMGN1P29', 'score': 157.52}, {'connected_gene': 'TMUB2', 'score': 138.71}, {'connected_gene': 'NBR2', 'score': 107.3}, {'connected_gene': 'LINC00910', 'score': 86.65}, {'connected_gene': 'PLEKHH3', 'score': 86.41}, {'connected_gene': 'CCR10', 'score': 82.17}, {'connected_gene': 'LOC108783654', 'score': 67.26}, {'connected_gene': 'ENSG00000267765', 'score': 62.78}, {'connected_gene': 'RETREG3', 'score': 58.84}, {'connected_gene': 'HSD17B1', 'score': 58.15}, {'connected_gene': 'CNTNAP1', 'score': 43.2}, {'connected_gene': 'RPL27', 'score': 37.87}, {'connected_gene': 'CNTD1', 'score': 33.66}, {'connected_gene': 'CAVIN1', 'score': 31.49}, {'connected_gene': 'HSD17B1P1', 'score': 29.64}, {'connected_gene': 'C17orf53', 'score': 29.35}, {'connected_gene': 'HMGN2P15', 'score': 29.13}, {'connected_gene': 'NAGLU', 'score': 26.69}, {'connected_gene': 'MPP2', 'score': 22.42}, {'connected_gene': 'NBR1', 'score': 21.89}, {'connected_gene': 'TUBG2', 'score': 19.96}, {'connected_gene': 'ENSG00000260793', 'score': 14.42}, {'connected_gene': 'PSMC3IP', 'score': 13.05}, {'connected_gene': 'RAMP2-AS1', 'score': 12.32}, {'connected_gene': 'LINC00854', 'score': 12.02}, {'connected_gene': 'VAT1', 'score': 11.98}, {'connected_gene': 'LSM12', 'score': 11.78}, {'connected_gene': 'TMEM106A', 'score': 10.93}, {'connected_gene': 'COASY', 'score': 10.47}, {'connected_gene': 'ENSG00000267632', 'score': 10.3}, {'connected_gene': 'RND2', 'score': 9.98}, {'connected_gene': 'AARSD1', 'score': 9.97}, {'connected_gene': 'PSME3', 'score': 9.76}, {'connected_gene': 'GC17P043558', 'score': 0.28}]
chr17	GH17I042576	42576074	42580294	2.09	[{'connected_gene': 'GC17P042577', 'score': 550.77}, {'connected_gene': 'GC17P042580', 'score': 550.77}, {'connected_gene': 'PSMC3IP', 'score': 550.77}, {'connected_gene': 'DHX8', 'score': 47.64}, {'connected_gene': 'HMGN1P29', 'score': 41.74}, {'connected_gene': 'ENSG00000267758', 'score': 38.18}, {'connected_gene': 'TUBG2', 'score': 32.02}, {'connected_gene': 'NBR2', 'score': 26.13}, {'connected_gene': 'MLX', 'score': 24.12}, {'connected_gene': 'STAT5A', 'score': 21.97}, {'connected_gene': 'LINC00910', 'score': 21.48}, {'connected_gene': 'CNTNAP1', 'score': 21.16}, {'connected_gene': 'CNTD1', 'score': 20.29}, {'connected_gene': 'KLHL10', 'score': 15.57}, {'connected_gene': 'NAGLU', 'score': 15.08}, {'connected_gene': 'COASY', 'score': 13.89}, {'connected_gene': 'TUBG1', 'score': 11.69}, {'connected_gene': 'RETREG3', 'score': 11.69}, {'connected_gene': 'LINC00854', 'score': 11.68}, {'connected_gene': 'GHDC', 'score': 11.47}, {'connected_gene': 'DHX58', 'score': 11.43}, {'connected_gene': 'NBR1', 'score': 11.22}, {'connected_gene': 'KLHL11', 'score': 10.85}, {'connected_gene': 'AARSD1', 'score': 10.32}, {'connected_gene': 'RUNDC1', 'score': 10.32}, {'connected_gene': 'PTGES3L-AARSD1', 'score': 10.32}, {'connected_gene': 'CAVIN1', 'score': 10.29}, {'connected_gene': 'PSME3', 'score': 10.28}, {'connected_gene': 'LOC108783654', 'score': 10.28}, {'connected_gene': 'VPS25', 'score': 10.21}, {'connected_gene': 'COA3', 'score': 10.05}, {'connected_gene': 'LINC00671', 'score': 5.5}]
chr17	GH17I042596	42596925	42597208	0.34	[{'connected_gene': 'ENSG00000280183', 'score': 550.77}, {'connected_gene': 'TUBG2', 'score': 11.58}, {'connected_gene': 'HMGN2P15', 'score': 11.05}, {'connected_gene': 'RAMP2-AS1', 'score': 11.04}, {'connected_gene': 'RAMP2', 'score': 11.04}, {'connected_gene': 'VPS25', 'score': 11.04}, {'connected_gene': 'WNK4', 'score': 10.28}, {'connected_gene': 'AARSD1', 'score': 10.21}, {'connected_gene': 'RUNDC1', 'score': 10.21}, {'connected_gene': 'PTGES3L-AARSD1', 'score': 10.21}, {'connected_gene': 'CNTD1', 'score': 10.14}, {'connected_gene': 'COA3', 'score': 10.14}, {'connected_gene': 'RNU7-97P', 'score': 9.68}, {'connected_gene': 'NAGLU', 'score': 5.79}, {'connected_gene': 'STAT5B', 'score': 2.99}, {'connected_gene': 'STAT3', 'score': 2.25}, {'connected_gene': 'RETREG3', 'score': 0.39}, {'connected_gene': 'PIR42459', 'score': 0.37}]