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
ENST00000440970	[[51169885, 51171463], [51172598, 51176056], [51184291, 51184508]]	[[51171022, 51171463], [51172598, 51175841]]
ENST00000251020	[[51169885, 51171463], [51172598, 51176056], [51185076, 51185186]]	[[51171022, 51171463], [51172598, 51176056], [51185076, 51185152]]
ENST00000566102	[[51170974, 51171463], [51185076, 51185152]]	[[51171434, 51171463], [51185076, 51185152]]
ENST00000541611	[[51170974, 51171463], [51185076, 51185152]]	[[51171022, 51171463], [51185076, 51185079]]
ENST00000570206	[[51171242, 51171463], [51172598, 51176056], [51184291, 51184508]]	[[51171242, 51171463], [51172598, 51175841]]
ENST00000562674	[[51177114, 51177319], [51185076, 51185278]]	None
NM_001127892	[[51169885, 51171463], [51172598, 51176056], [51184291, 51184508]]	[[51171022, 51171463], [51172598, 51175841]]
NM_002968	[[51169885, 51171463], [51172598, 51176056], [51185076, 51185183]]	[[51171022, 51171463], [51172598, 51176056], [51185076, 51185152]]

Promoter

Chrom	Start	End	Description
chr16	51185149	51185160	CAGE_peak_5_at_SALL1_5end
chr16	51185172	51185197	CAGE_peak_1_at_SALL1_5end
chr16	51185318	51185348	CAGE_peak_2_at_SALL1_5end
chr16	51185363	51185381	CAGE_peak_4_at_SALL1_5end
chr16	51185439	51185450	CAGE_peak_8_at_SALL1_5end
chr16	51185489	51185501	CAGE_peak_6_at_SALL1_5end
chr16	51185511	51185522	CAGE_peak_9_at_SALL1_5end
chr16	51185544	51185555	CAGE_peak_7_at_SALL1_5end
chr16	51185573	51185593	CAGE_peak_3_at_SALL1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr16	GH16I050615	50615238	50618531	1.02	[{'connected_gene': 'NKD1', 'score': 10.99}, {'connected_gene': 'BRD7', 'score': 10.04}, {'connected_gene': 'SALL1', 'score': 5.15}, {'connected_gene': 'ENSG00000205414', 'score': 0.77}, {'connected_gene': 'PIR55860', 'score': 0.37}]
chr16	GH16I051636	51636616	51638346	1.48	[{'connected_gene': 'SALL1', 'score': 4.62}, {'connected_gene': 'HNRNPA1P48', 'score': 0.44}, {'connected_gene': 'PIR35026', 'score': 0.18}]
chr16	GH16I051641	51641319	51641611	0.22	[{'connected_gene': 'SALL1', 'score': 3.19}, {'connected_gene': 'C16orf97', 'score': 1.28}, {'connected_gene': 'HNRNPA1P48', 'score': 0.77}, {'connected_gene': 'PIR35026', 'score': 0.17}]
chr16	GH16I051407	51407295	51409606	0.69	[{'connected_gene': 'SALL1', 'score': 4.81}, {'connected_gene': 'LOC105371256', 'score': 0.25}, {'connected_gene': 'LOC102723323', 'score': 0.13}]
chr16	GH16I051129	51129072	51129376	0.55	[{'connected_gene': 'SALL1', 'score': 22.24}, {'connected_gene': 'LOC105371253', 'score': 0.44}, {'connected_gene': 'SOD1P2', 'score': 0.34}]
chr16	GH16I051136	51136566	51140046	0.49	[{'connected_gene': 'SALL1', 'score': 5.63}, {'connected_gene': 'LOC105371253', 'score': 0.77}, {'connected_gene': 'ENSG00000261238', 'score': 0.39}]
chr16	GH16I051538	51538362	51541025	1.2	[{'connected_gene': 'SALL1', 'score': 23.13}, {'connected_gene': 'LOC102723323', 'score': 0.39}, {'connected_gene': 'PIR35026', 'score': 0.37}]
chr16	GH16I051542	51542463	51546047	1.32	[{'connected_gene': 'SALL1', 'score': 12.07}, {'connected_gene': 'PIR35026', 'score': 0.39}, {'connected_gene': 'LOC102723323', 'score': 0.37}]
chr16	GH16I051148	51148560	51156730	2.56	[{'connected_gene': 'SALL1', 'score': 568.21}, {'connected_gene': 'ENSG00000261238', 'score': 0.77}, {'connected_gene': 'ENSG00000280344', 'score': 0.34}]
chr16	GH16I051157	51157195	51158300	0.56	[{'connected_gene': 'SALL1', 'score': 0.44}, {'connected_gene': 'ENSG00000280344', 'score': 0.37}]
chr16	GH16I051140	51140674	51141953	0.2	[{'connected_gene': 'LOC105371253', 'score': 0.44}, {'connected_gene': 'ENSG00000261238', 'score': 0.44}, {'connected_gene': 'SALL1', 'score': 0.39}]
chr16	GH16I051526	51526285	51527014	0.79	[{'connected_gene': 'LOC102723323', 'score': 550.77}, {'connected_gene': 'SALL1', 'score': 4.2}, {'connected_gene': 'PIR35026', 'score': 0.31}]
chr16	GH16I051556	51556255	51557837	1.08	[{'connected_gene': 'PIR35026', 'score': 550.77}, {'connected_gene': 'SALL1', 'score': 7.77}, {'connected_gene': 'HNRNPA1P48', 'score': 0.17}]
chr16	GH16I051149	51148201	51148400	0.4	[{'connected_gene': 'ENSG00000261238', 'score': 550.77}, {'connected_gene': 'SALL1', 'score': 0.77}, {'connected_gene': 'LOC105371253', 'score': 0.39}]
chr16	GH16I051146	51146281	51146800	1	[{'connected_gene': 'ENSG00000261238', 'score': 0.77}, {'connected_gene': 'SALL1', 'score': 0.44}, {'connected_gene': 'LOC105371253', 'score': 0.39}]
chr16	GH16I051552	51552875	51554533	0.54	[{'connected_gene': 'PIR35026', 'score': 550.77}, {'connected_gene': 'SALL1', 'score': 8.73}, {'connected_gene': 'LOC102723323', 'score': 0.31}]
chr16	GH16I051174	51174336	51176164	0.2	[{'connected_gene': 'ENSG00000280344', 'score': 550.77}, {'connected_gene': 'SALL1', 'score': 12.94}]
chr16	GH16I051164	51164290	51164439	0.69	[{'connected_gene': 'ENSG00000280344', 'score': 0.39}, {'connected_gene': 'SALL1', 'score': 0.39}]
chr16	GH16I051144	51144138	51144554	0.78	[{'connected_gene': 'ENSG00000261238', 'score': 0.77}, {'connected_gene': 'LOC105371253', 'score': 0.44}, {'connected_gene': 'SALL1', 'score': 0.44}]