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
ENST00000262124	[[12947993, 12948231], [12951853, 12951904], [12955461, 12955608], [12963158, 12963370], [12971151, 12971250], [12978750, 12978891], [12982516, 12982674], [12984038, 12984189], [12985238, 12987535]]	[[12948120, 12948231], [12951853, 12951904], [12955461, 12955608], [12963158, 12963370], [12971151, 12971250], [12978750, 12978891], [12982516, 12982674], [12984038, 12984189], [12985238, 12985251]]
ENST00000399892	[[12948019, 12948231], [12951853, 12951904], [12955461, 12955608], [12963158, 12963370], [12971151, 12971250], [12978750, 12978891], [12982516, 12982674], [12984038, 12984189], [12986860, 12987535]]	[[12948120, 12948231], [12951853, 12951904], [12955461, 12955608], [12963158, 12963370], [12971151, 12971250], [12978750, 12978891], [12982516, 12982674], [12984038, 12984189], [12986860, 12987056]]
ENST00000587761	[[12948046, 12948231], [12951853, 12951904], [12955461, 12955608], [12963158, 12963370], [12964434, 12964494], [12971151, 12971250], [12978750, 12978859]]	[[12948120, 12948231], [12951853, 12951904], [12955461, 12955608], [12963158, 12963370], [12964434, 12964494], [12971151, 12971250], [12978750, 12978859]]
ENST00000592582	[[12971561, 12974554], [12975731, 12975881], [12978750, 12978891], [12982516, 12982674], [12984038, 12984189], [12985238, 12985717]]	None
ENST00000592170	[[12947131, 12947625], [12948137, 12948231], [12951853, 12951904], [12955461, 12955609]]	[[12948198, 12948231], [12951853, 12951904], [12955461, 12955609]]
ENST00000585730	[[12948012, 12948231], [12951853, 12951904], [12963158, 12963370], [12971151, 12971251]]	[[12948120, 12948231], [12951853, 12951904], [12963158, 12963370], [12971151, 12971251]]
ENST00000589446	[[12948034, 12948231], [12955461, 12955608], [12963158, 12963370], [12971151, 12971250]]	[[12948120, 12948231], [12955461, 12955608], [12963158, 12963370], [12971151, 12971250]]
ENST00000588251	[[12948503, 12948785], [12951853, 12951904], [12955461, 12955608], [12963158, 12963370], [12971151, 12971248]]	None
ENST00000590843	[[12976286, 12978891], [12982516, 12982674], [12984038, 12984189], [12985238, 12987530]]	None
ENST00000590032	[[12978827, 12978891], [12982516, 12983216]]	None
NM_001013437	[[12947982, 12948231], [12951853, 12951904], [12955461, 12955608], [12963158, 12963370], [12971151, 12971250], [12978750, 12978891], [12982516, 12982674], [12984038, 12984189], [12986860, 12987535]]	[[12948120, 12948231], [12951853, 12951904], [12955461, 12955608], [12963158, 12963370], [12971151, 12971250], [12978750, 12978891], [12982516, 12982674], [12984038, 12984189], [12986860, 12987056]]
NM_031216	[[12947982, 12948231], [12951853, 12951904], [12955461, 12955608], [12963158, 12963370], [12971151, 12971250], [12978750, 12978891], [12982516, 12982674], [12984038, 12984189], [12985238, 12987535]]	[[12948120, 12948231], [12951853, 12951904], [12955461, 12955608], [12963158, 12963370], [12971151, 12971250], [12978750, 12978891], [12982516, 12982674], [12984038, 12984189], [12985238, 12985251]]

Promoter

Chrom	Start	End	Description
chr18	12947837	12947900	CAGE_peak_3_at_SEH1L_5end
chr18	12947981	12947992	CAGE_peak_2_at_SEH1L_5end
chr18	12948000	12948057	CAGE_peak_1_at_SEH1L_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr18	GH18I012938	12938403	12940115	0.2	[{'connected_gene': 'SEH1L', 'score': 7.45}, {'connected_gene': 'PTPN2', 'score': 0.44}]
chr18	GH18I012946	12946067	12949347	2.09	[{'connected_gene': 'SEH1L', 'score': 558.09}, {'connected_gene': 'CEP192', 'score': 88.44}, {'connected_gene': 'PSMG2', 'score': 24.88}, {'connected_gene': 'PTPN2', 'score': 22.16}, {'connected_gene': 'RNMT', 'score': 11.84}, {'connected_gene': 'ENSG00000267249', 'score': 10.66}, {'connected_gene': 'GC18M015028', 'score': 0.29}]
chr18	GH18I012950	12950801	12951200	0.31	[{'connected_gene': 'SEH1L', 'score': 8.08}, {'connected_gene': 'GC18M015028', 'score': 0.29}]
chr18	GH18I012951	12951401	12951600	0.38	[{'connected_gene': 'SEH1L', 'score': 0.77}, {'connected_gene': 'GC18M015028', 'score': 0.31}]
chr18	GH18I012933	12933462	12933611	0.69	[{'connected_gene': 'PTPN2', 'score': 0.77}, {'connected_gene': 'SEH1L', 'score': 0.39}]
chr18	GH18I012934	12934419	12935000	1.03	[{'connected_gene': 'PTPN2', 'score': 0.44}, {'connected_gene': 'SEH1L', 'score': 0.39}]
chr18	GH18I012729	12729822	12730903	0.87	[{'connected_gene': 'SPIRE1', 'score': 25.95}, {'connected_gene': 'CEP76', 'score': 11.94}, {'connected_gene': 'PSMG2', 'score': 11.82}, {'connected_gene': 'SEH1L', 'score': 11.53}, {'connected_gene': 'PTPN2', 'score': 10.89}, {'connected_gene': 'CEP192', 'score': 10.88}, {'connected_gene': 'PRELID3A', 'score': 10.23}, {'connected_gene': 'RNU7-129P', 'score': 10.23}, {'connected_gene': 'GC18M015420', 'score': 0.77}, {'connected_gene': 'LINC01882', 'score': 0.37}]
chr18	GH18I012995	12995983	12997259	0.71	[{'connected_gene': 'CEP192', 'score': 14.81}, {'connected_gene': 'ENSG00000267249', 'score': 10.65}, {'connected_gene': 'SEH1L', 'score': 6.58}, {'connected_gene': 'PIR52762', 'score': 0.19}]
chr18	GH18I013018	13018589	13020263	0.57	[{'connected_gene': 'CEP192', 'score': 41.79}, {'connected_gene': 'SEH1L', 'score': 6.28}, {'connected_gene': 'PIR52762', 'score': 0.23}]
chr18	GH18I012944	12944382	12945413	0.94	[{'connected_gene': 'CEP192', 'score': 42.45}, {'connected_gene': 'CEP76', 'score': 10.79}, {'connected_gene': 'PSMG2', 'score': 10.78}, {'connected_gene': 'SEH1L', 'score': 8.09}, {'connected_gene': 'PTPN2', 'score': 0.37}]
chr18	GH18I012949	12949801	12950000	0.49	[{'connected_gene': 'CEP192', 'score': 21.37}, {'connected_gene': 'PSMG2', 'score': 12.63}, {'connected_gene': 'PTPN2', 'score': 11.95}, {'connected_gene': 'CEP76', 'score': 10.15}, {'connected_gene': 'SEH1L', 'score': 0.77}, {'connected_gene': 'GC18M015028', 'score': 0.29}]
chr18	GH18I012989	12989313	12992996	2.11	[{'connected_gene': 'CEP192', 'score': 647.99}, {'connected_gene': 'ENSG00000266969', 'score': 567.84}, {'connected_gene': 'PSMG2', 'score': 66.33}, {'connected_gene': 'PTPN2', 'score': 44.81}, {'connected_gene': 'PRELID3A', 'score': 27.41}, {'connected_gene': 'CEP76', 'score': 12.29}, {'connected_gene': 'ENSG00000267249', 'score': 11.62}, {'connected_gene': 'ENSG00000267199', 'score': 10.12}, {'connected_gene': 'ENSG00000260302', 'score': 10.06}, {'connected_gene': 'RNMT', 'score': 9.82}, {'connected_gene': 'SEH1L', 'score': 7.15}, {'connected_gene': 'GC18P012986', 'score': 0.77}]
chr18	GH18I012727	12727142	12727331	0.87	[{'connected_gene': 'GC18M015420', 'score': 550.77}, {'connected_gene': 'SPIRE1', 'score': 26.27}, {'connected_gene': 'SEH1L', 'score': 11.53}, {'connected_gene': 'CEP76', 'score': 11.44}, {'connected_gene': 'PSMG2', 'score': 11.3}, {'connected_gene': 'PTPN2', 'score': 10.89}, {'connected_gene': 'CEP192', 'score': 10.88}, {'connected_gene': 'PRELID3A', 'score': 10.24}, {'connected_gene': 'RNU7-129P', 'score': 10.23}, {'connected_gene': 'LINC01882', 'score': 0.34}]
chr18	GH18I012722	12722114	12723116	0.38	[{'connected_gene': 'GC18M015419', 'score': 550.77}, {'connected_gene': 'SPIRE1', 'score': 25.97}, {'connected_gene': 'SEH1L', 'score': 11.53}, {'connected_gene': 'PSMG2', 'score': 11.31}, {'connected_gene': 'PRELID3A', 'score': 11.04}, {'connected_gene': 'RNU7-129P', 'score': 11.03}, {'connected_gene': 'CEP192', 'score': 10.93}, {'connected_gene': 'AFG3L2', 'score': 10.9}, {'connected_gene': 'PTPN2', 'score': 10.89}, {'connected_gene': 'ENSG00000267199', 'score': 6.82}, {'connected_gene': 'GC18M015420', 'score': 0.77}, {'connected_gene': 'CEP76', 'score': 0.37}]