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
ENST00000551577	[[44229885, 44229999], [44238426, 44238731], [44338012, 44338145], [44537327, 44537427], [44605072, 44605170], [44693362, 44693522], [44781808, 44783541]]	[[44238454, 44238731], [44338012, 44338145], [44537327, 44537427], [44605072, 44605170], [44693362, 44693522], [44781808, 44781847]]
ENST00000266534	[[44229900, 44229999], [44238426, 44238731], [44338012, 44338145], [44537327, 44537427], [44605072, 44605170], [44693362, 44693522], [44770377, 44770507], [44781808, 44783541]]	[[44238454, 44238731], [44338012, 44338145], [44537327, 44537427], [44605072, 44605170], [44693362, 44693522], [44770377, 44770507], [44781808, 44782455]]
ENST00000546868	[[44229955, 44229999], [44238426, 44238731], [44338012, 44338145], [44605072, 44605170], [44693362, 44693522], [44770377, 44770507], [44781808, 44783545]]	[[44238454, 44238731], [44338012, 44338145], [44605072, 44605085]]
ENST00000550495	[[44238653, 44238731], [44537327, 44537427], [44605072, 44605170], [44693362, 44693522], [44770377, 44770507], [44781808, 44781818]]	[[44537349, 44537427], [44605072, 44605170], [44693362, 44693522], [44770377, 44770507], [44781808, 44781818]]
ENST00000536799	[[44238666, 44238731], [44338012, 44338145], [44605072, 44605170], [44693362, 44693522], [44770377, 44770507], [44781808, 44782455]]	[[44238666, 44238731], [44338012, 44338145], [44605072, 44605170], [44693362, 44693522], [44770377, 44770507], [44781808, 44782455]]
ENST00000553253	[[44467314, 44467635], [44537327, 44537427], [44605072, 44605170], [44693362, 44693522], [44770377, 44770507]]	None
ENST00000550623	[[44467453, 44467635], [44477391, 44477484], [44537327, 44537427], [44605072, 44605170], [44693362, 44693522], [44770377, 44770439]]	None
ENST00000546387	[[44229769, 44229999], [44238426, 44238787]]	None
ENST00000546978	[[44712077, 44712154], [44770377, 44770507], [44781808, 44783543]]	None
NM_001286213	[[44229663, 44229999], [44238426, 44238731], [44537327, 44537427], [44605072, 44605170], [44693362, 44693522], [44770377, 44770507], [44781808, 44783545]]	[[44537349, 44537427], [44605072, 44605170], [44693362, 44693522], [44770377, 44770507], [44781808, 44782455]]
NM_001286212	[[44229663, 44229999], [44238426, 44238731], [44338012, 44338145], [44605072, 44605170], [44693362, 44693522], [44770377, 44770507], [44781808, 44783545]]	[[44238666, 44238731], [44338012, 44338145], [44605072, 44605170], [44693362, 44693522], [44770377, 44770507], [44781808, 44782455]]
NM_001286211	[[44229663, 44229999], [44238426, 44238731], [44338012, 44338145], [44537327, 44537427], [44605072, 44605170], [44693362, 44693522], [44781808, 44783545]]	[[44238454, 44238731], [44338012, 44338145], [44537327, 44537427], [44605072, 44605170], [44693362, 44693522], [44781808, 44781847]]
NM_032256	[[44229663, 44229999], [44238426, 44238731], [44338012, 44338145], [44537327, 44537427], [44605072, 44605170], [44693362, 44693522], [44770377, 44770507], [44781808, 44783545]]	[[44238454, 44238731], [44338012, 44338145], [44537327, 44537427], [44605072, 44605170], [44693362, 44693522], [44770377, 44770507], [44781808, 44782455]]

Promoter

Chrom	Start	End	Description
chr12	44229650	44229702	CAGE_peak_2_at_TMEM117_5end
chr12	44229846	44229916	CAGE_peak_1_at_TMEM117_5end
chr12	44467399	44467407	CAGE_peak_12_at_TMEM117_5end
chr12	44467410	44467418	CAGE_peak_13_at_TMEM117_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I043882	43882678	43882827	0.62	[{'connected_gene': 'TMEM117', 'score': 11.3}, {'connected_gene': 'TWF1', 'score': 11.17}, {'connected_gene': 'IRAK4', 'score': 10.35}, {'connected_gene': 'PUS7L', 'score': 10.35}, {'connected_gene': 'GC12M044008', 'score': 0.13}]
chr12	GH12I043844	43844736	43844795	0.5	[{'connected_gene': 'TMEM117', 'score': 550.25}, {'connected_gene': 'TWF1', 'score': 0.28}, {'connected_gene': 'GC12M044008', 'score': 0.1}]
chr12	GH12I043922	43921758	43921947	0.2	[{'connected_gene': 'TMEM117', 'score': 8.29}, {'connected_gene': 'GC12M044008', 'score': 0.17}, {'connected_gene': 'TWF1', 'score': 0.13}]
chr12	GH12I043835	43835400	43837387	1.96	[{'connected_gene': 'TMEM117', 'score': 558.61}, {'connected_gene': 'TWF1', 'score': 5.24}, {'connected_gene': 'GC12M044008', 'score': 0.09}]
chr12	GH12I043861	43861458	43862610	0.43	[{'connected_gene': 'TMEM117', 'score': 8.69}, {'connected_gene': 'TWF1', 'score': 0.22}, {'connected_gene': 'GC12M044008', 'score': 0.11}]
chr12	GH12I043795	43795753	43796634	0.72	[{'connected_gene': 'TMEM117', 'score': 550.77}, {'connected_gene': 'IRAK4', 'score': 11.03}, {'connected_gene': 'PUS7L', 'score': 11.03}, {'connected_gene': 'TWF1', 'score': 6.07}]
chr12	GH12I043846	43846853	43849390	0.74	[{'connected_gene': 'TMEM117', 'score': 11.3}, {'connected_gene': 'IRAK4', 'score': 5.08}, {'connected_gene': 'TWF1', 'score': 0.26}, {'connected_gene': 'GC12M044008', 'score': 0.1}]
chr12	GH12I044551	44551207	44551538	0.23	[{'connected_gene': 'TMEM117', 'score': 4.42}, {'connected_gene': 'NELL2', 'score': 3.66}, {'connected_gene': 'DBX2', 'score': 1.28}, {'connected_gene': 'ENSG00000275286', 'score': 0.23}, {'connected_gene': 'GC12M044560', 'score': 0.13}]
chr12	GH12I042904	42904649	42905644	0.2	[{'connected_gene': 'TMEM117', 'score': 4.64}, {'connected_gene': 'GC12P042915', 'score': 0.39}, {'connected_gene': 'PIR32171', 'score': 0.23}]
chr12	GH12I043829	43829404	43830135	0.6	[{'connected_gene': 'TWF1', 'score': 12.66}, {'connected_gene': 'TMEM117', 'score': 0.29}, {'connected_gene': 'GC12M044008', 'score': 0.09}]
chr12	GH12I043804	43804800	43807633	2.03	[{'connected_gene': 'TWF1', 'score': 560.02}, {'connected_gene': 'PUS7L', 'score': 22.9}, {'connected_gene': 'IRAK4', 'score': 10.84}, {'connected_gene': 'ENSG00000257896', 'score': 10.11}, {'connected_gene': 'TMEM117', 'score': 5.12}]
chr12	GH12I043762	43762269	43763394	0.38	[{'connected_gene': 'TWF1', 'score': 11.1}, {'connected_gene': 'IRAK4', 'score': 0.77}, {'connected_gene': 'TMEM117', 'score': 0.29}]
chr12	GH12I043757	43757706	43760734	2.02	[{'connected_gene': 'IRAK4', 'score': 550.77}, {'connected_gene': 'PUS7L', 'score': 550.77}, {'connected_gene': 'TWF1', 'score': 10.78}, {'connected_gene': 'TMEM117', 'score': 0.28}]
chr12	GH12I043832	43832478	43832627	0.38	[{'connected_gene': 'IRAK4', 'score': 13.39}, {'connected_gene': 'TWF1', 'score': 12.64}, {'connected_gene': 'TMEM117', 'score': 0.28}, {'connected_gene': 'GC12M044008', 'score': 0.1}]
chr12	GH12I043921	43921973	43921987	0.2	[{'connected_gene': 'GC12M044008', 'score': 0.17}, {'connected_gene': 'TMEM117', 'score': 0.13}, {'connected_gene': 'TWF1', 'score': 0.13}]
chr12	GH12I044034	44034914	44034973	0.5	[{'connected_gene': 'GC12P044033', 'score': 550.77}, {'connected_gene': 'TMEM117', 'score': 550.07}, {'connected_gene': 'PIR41075', 'score': 0.77}]
chr12	GH12I044069	44069498	44069804	0.22	[{'connected_gene': 'PIR37839', 'score': 550.77}, {'connected_gene': 'GC12M044059', 'score': 550.77}, {'connected_gene': 'GC12M044039', 'score': 0.1}, {'connected_gene': 'TMEM117', 'score': 0.06}]
chr12	GH12I044128	44128927	44129068	0.22	[{'connected_gene': 'GC12M044126', 'score': 0.44}, {'connected_gene': 'PIR37839', 'score': 0.22}, {'connected_gene': 'GC12M044039', 'score': 0.15}, {'connected_gene': 'TMEM117', 'score': 0.06}]
chr12	GH12I044295	44295828	44297732	0.52	[{'connected_gene': 'GC12M044314', 'score': 0.37}, {'connected_gene': 'GC12M044313', 'score': 0.37}, {'connected_gene': 'ENSG00000257947', 'score': 0.29}, {'connected_gene': 'TMEM117', 'score': 0.03}]
chr12	GH12I044405	44405061	44405684	0.38	[{'connected_gene': 'GC12M044314', 'score': 0.16}, {'connected_gene': 'ENSG00000275286', 'score': 0.16}, {'connected_gene': 'GC12M044313', 'score': 0.16}, {'connected_gene': 'TMEM117', 'score': 0.03}]
chr12	GH12I044372	44372398	44372587	0.56	[{'connected_gene': 'GC12M044314', 'score': 0.22}, {'connected_gene': 'GC12M044313', 'score': 0.22}, {'connected_gene': 'ENSG00000275286', 'score': 0.13}, {'connected_gene': 'TMEM117', 'score': 0.03}]
chr12	GH12I044379	44379918	44380087	0.2	[{'connected_gene': 'GC12M044314', 'score': 0.2}, {'connected_gene': 'GC12M044313', 'score': 0.2}, {'connected_gene': 'ENSG00000275286', 'score': 0.13}, {'connected_gene': 'TMEM117', 'score': 0.03}]
chr12	GH12I044428	44428646	44429382	0.38	[{'connected_gene': 'ENSG00000275286', 'score': 0.19}, {'connected_gene': 'GC12M044314', 'score': 0.13}, {'connected_gene': 'GC12M044313', 'score': 0.13}, {'connected_gene': 'TMEM117', 'score': 0.03}]
chr12	GH12I043965	43965038	43965187	0.57	[{'connected_gene': 'GC12M044008', 'score': 0.25}, {'connected_gene': 'TWF1', 'score': 0.1}, {'connected_gene': 'TMEM117', 'score': 0.1}]
chr12	GH12I044000	44000498	44000607	0.63	[{'connected_gene': 'GC12M044008', 'score': 0.44}, {'connected_gene': 'TWF1', 'score': 0.08}, {'connected_gene': 'TMEM117', 'score': 0.08}]
chr12	GH12I043969	43969998	43970147	0.43	[{'connected_gene': 'GC12M044008', 'score': 0.26}, {'connected_gene': 'TWF1', 'score': 0.1}, {'connected_gene': 'TMEM117', 'score': 0.09}]