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
ENST00000431549	[[42798668, 42798706], [42799616, 42799843], [42827519, 42827654], [42835648, 42835767], [42845927, 42846010]]	[[42799823, 42799843], [42827519, 42827654], [42835648, 42835745]]
ENST00000321331	[[42825789, 42826812], [42827519, 42827654], [42835648, 42835767], [42845927, 42846023]]	[[42826762, 42826812], [42827519, 42827654], [42835648, 42835745]]
ENST00000418900	[[42825821, 42826812], [42827519, 42827654], [42835648, 42835791], [42845927, 42845980]]	[[42826762, 42826812], [42827519, 42827654], [42835648, 42835745]]
ENST00000470543	[[42826017, 42826812], [42827519, 42827654], [42845927, 42845980]]	None
ENST00000430190	[[42826396, 42826828], [42827519, 42827654], [42835648, 42835767], [42845927, 42845982]]	[[42826769, 42826828], [42827519, 42827654], [42835648, 42835745]]
ENST00000452906	[[42826743, 42826812], [42827519, 42827654], [42835648, 42835767], [42845663, 42845925]]	[[42826762, 42826812], [42827519, 42827654], [42835648, 42835767], [42845663, 42845683]]
NM_001099668	[[42824399, 42826812], [42827519, 42827654], [42835648, 42835767], [42845663, 42845934]]	[[42826762, 42826812], [42827519, 42827654], [42835648, 42835767], [42845663, 42845683]]
NM_001099669	[[42824399, 42826812], [42827519, 42827654], [42835648, 42835791], [42845927, 42846027]]	[[42826762, 42826812], [42827519, 42827654], [42835648, 42835745]]
NM_014056	[[42824399, 42826812], [42827519, 42827654], [42835648, 42835767], [42845927, 42846027]]	[[42826762, 42826812], [42827519, 42827654], [42835648, 42835745]]

Promoter

Chrom	Start	End	Description
chr3	42845922	42845933	CAGE_peak_2_at_HIGD1A_5end
chr3	42845951	42846015	CAGE_peak_1_at_HIGD1A_5end
chr3	42846021	42846032	CAGE_peak_3_at_HIGD1A_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr3	GH03I043011	43011405	43025933	1.07	[{'connected_gene': 'POMGNT2', 'score': 16.77}, {'connected_gene': 'FAM198A', 'score': 5.24}, {'connected_gene': 'HIGD1A', 'score': 4.45}, {'connected_gene': 'PIR62180', 'score': 0.39}, {'connected_gene': 'PIR49761', 'score': 0.31}, {'connected_gene': 'ENSG00000273291', 'score': 0.08}]
chr3	GH03I043105	43105089	43106678	1.95	[{'connected_gene': 'POMGNT2', 'score': 563.48}, {'connected_gene': 'NKTR', 'score': 13.23}, {'connected_gene': 'HIGD1A', 'score': 5.03}, {'connected_gene': 'ENSG00000271941', 'score': 4.39}, {'connected_gene': 'ENSG00000227245', 'score': 0.37}]
chr3	GH03I042880	42880401	42881678	1.45	[{'connected_gene': 'NKTR', 'score': 18.34}, {'connected_gene': 'HIGD1A', 'score': 15.01}, {'connected_gene': 'SNRK-AS1', 'score': 13.2}, {'connected_gene': 'ENSG00000235288', 'score': 12.11}, {'connected_gene': 'ACKR2', 'score': 11.98}, {'connected_gene': 'ZNF662', 'score': 11.23}, {'connected_gene': 'CCDC13', 'score': 10.81}, {'connected_gene': 'LINC02158', 'score': 10.8}, {'connected_gene': 'KRBOX1', 'score': 10.68}, {'connected_gene': 'CYP8B1', 'score': 7.29}, {'connected_gene': 'POMGNT2', 'score': 1.24}, {'connected_gene': 'HNRNPA1P22', 'score': 0.44}, {'connected_gene': 'ENSG00000273328', 'score': 0.19}, {'connected_gene': 'ENSG00000273291', 'score': 0.19}]
chr3	GH03I042801	42801234	42801293	0.93	[{'connected_gene': 'HIGD1A', 'score': 550.77}, {'connected_gene': 'GC03M042803', 'score': 550.77}, {'connected_gene': 'CCDC13', 'score': 11.67}, {'connected_gene': 'LINC02158', 'score': 11.66}, {'connected_gene': 'GC03P042798', 'score': 0.77}, {'connected_gene': 'ENSG00000280571', 'score': 0.77}, {'connected_gene': 'ENSG00000235288', 'score': 0.23}]
chr3	GH03I042780	42780909	42781098	0.66	[{'connected_gene': 'HIGD1A', 'score': 11.31}, {'connected_gene': 'ACKR2', 'score': 11.31}, {'connected_gene': 'KRBOX1', 'score': 11.28}, {'connected_gene': 'CCDC13-AS1', 'score': 10.96}, {'connected_gene': 'CCDC13', 'score': 0.44}, {'connected_gene': 'GC03P042799', 'score': 0.37}, {'connected_gene': 'ENSG00000280571', 'score': 0.34}]
chr3	GH03I042778	42778295	42780078	0.79	[{'connected_gene': 'HIGD1A', 'score': 20.48}, {'connected_gene': 'CCDC13-AS1', 'score': 18.73}, {'connected_gene': 'ACKR2', 'score': 11.28}, {'connected_gene': 'KRBOX1', 'score': 11.27}, {'connected_gene': 'CCDC13', 'score': 0.44}, {'connected_gene': 'GC03P042799', 'score': 0.37}, {'connected_gene': 'ENSG00000280571', 'score': 0.31}]
chr3	GH03I042810	42810603	42812699	1.23	[{'connected_gene': 'HIGD1A', 'score': 9.19}, {'connected_gene': 'CCDC13-AS1', 'score': 7.77}, {'connected_gene': 'ACKR2', 'score': 5.11}, {'connected_gene': 'KRBOX1', 'score': 0.77}, {'connected_gene': 'ENSG00000273328', 'score': 0.77}, {'connected_gene': 'ENSG00000273291', 'score': 0.77}, {'connected_gene': 'ENSG00000235288', 'score': 0.26}]
chr3	GH03I042689	42689916	42694645	0.38	[{'connected_gene': 'CCDC13', 'score': 21.25}, {'connected_gene': 'CCDC13-AS1', 'score': 18.17}, {'connected_gene': 'HHATL', 'score': 7.18}, {'connected_gene': 'NKTR', 'score': 5.22}, {'connected_gene': 'HIGD1A', 'score': 4.45}, {'connected_gene': 'KLHL40', 'score': 0.44}, {'connected_gene': 'HHATL-AS1', 'score': 0.39}]
chr3	GH03I042772	42772462	42773838	1.85	[{'connected_gene': 'CCDC13', 'score': 550.77}, {'connected_gene': 'CCDC13-AS1', 'score': 22.97}, {'connected_gene': 'HIGD1A', 'score': 9.5}, {'connected_gene': 'LINC02158', 'score': 0.77}, {'connected_gene': 'ENSG00000280571', 'score': 0.29}]
chr3	GH03I042802	42802571	42805676	2.29	[{'connected_gene': 'ACKR2', 'score': 556.2}, {'connected_gene': 'HIGD1A', 'score': 550.77}, {'connected_gene': 'ENSG00000280571', 'score': 550.77}, {'connected_gene': 'NKTR', 'score': 38.25}, {'connected_gene': 'ZNF662', 'score': 20.28}, {'connected_gene': 'SNRK-AS1', 'score': 13.19}, {'connected_gene': 'LINC02158', 'score': 11.51}, {'connected_gene': 'CCDC13', 'score': 11.51}, {'connected_gene': 'GC03M042803', 'score': 0.77}, {'connected_gene': 'ENSG00000235288', 'score': 0.25}]
chr3	GH03I042755	42755562	42757334	0.89	[{'connected_gene': 'CCDC13-AS1', 'score': 25.14}, {'connected_gene': 'HIGD1A', 'score': 9.45}, {'connected_gene': 'LINC02158', 'score': 0.39}, {'connected_gene': 'CCDC13', 'score': 0.37}, {'connected_gene': 'ENSG00000280571', 'score': 0.25}]
chr3	GH03I042828	42828689	42830263	1.11	[{'connected_gene': 'CCDC13-AS1', 'score': 8.71}, {'connected_gene': 'HIGD1A', 'score': 5.74}, {'connected_gene': 'KRBOX1', 'score': 0.37}, {'connected_gene': 'ACKR2', 'score': 0.34}, {'connected_gene': 'ENSG00000235288', 'score': 0.34}, {'connected_gene': 'ENSG00000273328', 'score': 0.34}, {'connected_gene': 'ENSG00000273291', 'score': 0.34}]
chr3	GH03I042826	42826573	42827997	0.49	[{'connected_gene': 'CCDC13-AS1', 'score': 8.68}, {'connected_gene': 'HIGD1A', 'score': 4.74}, {'connected_gene': 'KRBOX1', 'score': 0.37}, {'connected_gene': 'ENSG00000273328', 'score': 0.37}, {'connected_gene': 'ENSG00000273291', 'score': 0.37}, {'connected_gene': 'ACKR2', 'score': 0.34}, {'connected_gene': 'ENSG00000235288', 'score': 0.31}]
chr3	GH03I042759	42759845	42763399	1.18	[{'connected_gene': 'CCDC13-AS1', 'score': 34.62}, {'connected_gene': 'KRBOX1', 'score': 10.91}, {'connected_gene': 'SEC22C', 'score': 10.67}, {'connected_gene': 'POMGNT2', 'score': 10.57}, {'connected_gene': 'ZNF662', 'score': 10.35}, {'connected_gene': 'HIGD1A', 'score': 9.46}, {'connected_gene': 'LINC02158', 'score': 0.44}, {'connected_gene': 'CCDC13', 'score': 0.39}, {'connected_gene': 'ENSG00000280571', 'score': 0.26}]
chr3	GH03I042803	42801845	42802060	0.38	[{'connected_gene': 'GC03M042803', 'score': 550.77}, {'connected_gene': 'CCDC13', 'score': 11.67}, {'connected_gene': 'LINC02158', 'score': 11.66}, {'connected_gene': 'HIGD1A', 'score': 0.77}, {'connected_gene': 'ENSG00000280571', 'score': 0.77}, {'connected_gene': 'ENSG00000235288', 'score': 0.23}]