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
ENST00000392329	[[191208195, 191208687], [191213613, 191213757], [191224764, 191225032], [191227352, 191227413], [191231420, 191231621], [191233828, 191234003], [191235569, 191236390]]	[[191224828, 191225032], [191227352, 191227413], [191231420, 191231621], [191233828, 191234003], [191235569, 191236128]]
ENST00000322522	[[191208295, 191208687], [191224764, 191225032], [191227352, 191227413], [191231420, 191231621], [191233828, 191234003], [191235569, 191236391]]	[[191224828, 191225032], [191227352, 191227413], [191231420, 191231621], [191233828, 191234003], [191235569, 191236128]]
ENST00000541441	[[191208417, 191208687], [191211361, 191211541], [191213613, 191213757], [191224764, 191225032], [191227352, 191227413], [191231420, 191231621], [191233828, 191234003], [191235569, 191236310]]	[[191224828, 191225032], [191227352, 191227413], [191231420, 191231621], [191233828, 191234003], [191235569, 191236128]]
ENST00000470892	[[191233369, 191234003], [191235569, 191235767]]	None
ENST00000430311	[[191208372, 191208687], [191213613, 191213757], [191224764, 191224857]]	[[191224828, 191224857]]
ENST00000413239	[[191208600, 191208687], [191213613, 191213757], [191224371, 191224424], [191224764, 191225032], [191227352, 191227413]]	[[191224828, 191225032], [191227352, 191227413]]
ENST00000431594	[[191208633, 191208687], [191224371, 191224424], [191224764, 191225032], [191227352, 191227413], [191231420, 191231621], [191233828, 191234003]]	[[191224828, 191225032], [191227352, 191227413], [191231420, 191231621], [191233828, 191234003]]
ENST00000444194	[[191208643, 191208804], [191224764, 191225032], [191227352, 191227413], [191231420, 191231621], [191233828, 191233934]]	[[191224828, 191225032], [191227352, 191227413], [191231420, 191231621], [191233828, 191233934]]
ENST00000422454	[[191208655, 191208687], [191224371, 191224424], [191224764, 191225032], [191227352, 191227413], [191229838, 191229878]]	None
ENST00000417336	[[191208655, 191208687], [191213613, 191213757], [191224764, 191225032], [191231420, 191231456]]	None
ENST00000458647	[[191208667, 191208800], [191224764, 191225032], [191227352, 191227413], [191231420, 191231584]]	[[191224828, 191225032], [191227352, 191227413], [191231420, 191231584]]
ENST00000423767	[[191208804, 191208944], [191224764, 191225032], [191227352, 191227413], [191231420, 191231621], [191233828, 191233998]]	[[191224828, 191225032], [191227352, 191227413], [191231420, 191231621], [191233828, 191233998]]
ENST00000451089	[[191208889, 191208944], [191210230, 191210301], [191213613, 191213757], [191224764, 191224919]]	[[191224828, 191224919]]
ENST00000409027	[[191221242, 191221343], [191224764, 191225032], [191227352, 191227413], [191231420, 191231621]]	[[191224828, 191225032], [191227352, 191227413], [191231420, 191231621]]
ENST00000458193	[[191221261, 191221534], [191224764, 191225032]]	[[191224828, 191225032]]
ENST00000487628	[[191224743, 191225032], [191227352, 191227733]]	None
NM_002194	[[191208195, 191208687], [191224764, 191225032], [191227352, 191227413], [191231420, 191231621], [191233828, 191234003], [191235569, 191236391]]	[[191224828, 191225032], [191227352, 191227413], [191231420, 191231621], [191233828, 191234003], [191235569, 191236128]]
NM_001128928	[[191208195, 191208687], [191213613, 191213757], [191224764, 191225032], [191227352, 191227413], [191231420, 191231621], [191233828, 191234003], [191235569, 191236391]]	[[191224828, 191225032], [191227352, 191227413], [191231420, 191231621], [191233828, 191234003], [191235569, 191236128]]

Promoter

Chrom	Start	End	Description
chr2	191208287	191208408	CAGE_peak_1_at_INPP1_5end
chr2	191208523	191208547	CAGE_peak_5_at_INPP1_5end
chr2	191208602	191208651	CAGE_peak_2_at_INPP1_5end
chr2	191208656	191208669	CAGE_peak_7_at_INPP1_5end
chr2	191208739	191208755	CAGE_peak_6_at_INPP1_5end
chr2	191208791	191208802	CAGE_peak_10_at_INPP1_5end
chr2	191221240	191221253	CAGE_peak_17_at_INPP1_5end
chr2	191221365	191221380	CAGE_peak_22_at_INPP1_5end
chr2	191224739	191224767	CAGE_peak_8_at_INPP1_5end
chr2	191224772	191224776	CAGE_peak_19_at_INPP1_5end
chr2	191224778	191224792	CAGE_peak_4_at_INPP1_5end
chr2	191224812	191224842	CAGE_peak_3_at_INPP1_5end
chr2	191224859	191224870	CAGE_peak_11_at_INPP1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I190592	190592012	190594979	0.31	[{'connected_gene': 'MFSD6', 'score': 17.47}, {'connected_gene': 'NAB1', 'score': 16.83}, {'connected_gene': 'NEMP2', 'score': 11.0}, {'connected_gene': 'ENSG00000233654', 'score': 10.97}, {'connected_gene': 'INPP1', 'score': 4.31}, {'connected_gene': 'GC02M190569', 'score': 0.34}]
chr2	GH02I190577	190577513	190580903	1.37	[{'connected_gene': 'MFSD6', 'score': 21.54}, {'connected_gene': 'NEMP2', 'score': 11.12}, {'connected_gene': 'ENSG00000233654', 'score': 11.11}, {'connected_gene': 'ENSG00000228509', 'score': 10.73}, {'connected_gene': 'NAB1', 'score': 7.52}, {'connected_gene': 'INPP1', 'score': 5.29}, {'connected_gene': 'GC02M190569', 'score': 0.44}]
chr2	GH02I190406	190406778	190409920	2.07	[{'connected_gene': 'MFSD6', 'score': 576.14}, {'connected_gene': 'NEMP2', 'score': 23.64}, {'connected_gene': 'ENSG00000233654', 'score': 10.63}, {'connected_gene': 'INPP1', 'score': 4.19}, {'connected_gene': 'GC02M190388', 'score': 0.37}]
chr2	GH02I190378	190378547	190379824	1.09	[{'connected_gene': 'MFSD6', 'score': 14.77}, {'connected_gene': 'ENSG00000233654', 'score': 10.42}, {'connected_gene': 'NEMP2', 'score': 10.41}, {'connected_gene': 'HIBCH', 'score': 1.61}, {'connected_gene': 'INPP1', 'score': 1.5}, {'connected_gene': 'GC02M190373', 'score': 0.44}, {'connected_gene': 'GC02M190388', 'score': 0.39}]
chr2	GH02I190636	190636480	190638000	1.37	[{'connected_gene': 'NAB1', 'score': 18.83}, {'connected_gene': 'STAT1', 'score': 3.11}, {'connected_gene': 'INPP1', 'score': 1.62}, {'connected_gene': 'GLS', 'score': 1.5}, {'connected_gene': 'ENSG00000284052', 'score': 0.39}, {'connected_gene': 'GC02M190569', 'score': 0.2}]
chr2	GH02I190646	190646183	190651763	2.43	[{'connected_gene': 'NAB1', 'score': 575.75}, {'connected_gene': 'ENSG00000284052', 'score': 550.77}, {'connected_gene': 'NEMP2', 'score': 15.82}, {'connected_gene': 'ENSG00000233654', 'score': 11.08}, {'connected_gene': 'ENSG00000228509', 'score': 9.85}, {'connected_gene': 'GLS', 'score': 8.87}, {'connected_gene': 'HIBCH', 'score': 5.85}, {'connected_gene': 'STAT1', 'score': 3.76}, {'connected_gene': 'INPP1', 'score': 2.02}]
chr2	GH02I190355	190355831	190360850	2.23	[{'connected_gene': 'INPP1', 'score': 566.93}, {'connected_gene': 'HIBCH', 'score': 20.3}, {'connected_gene': 'GC02P190361', 'score': 0.77}]
chr2	GH02I190333	190333134	190336153	1.18	[{'connected_gene': 'HIBCH', 'score': 50.75}, {'connected_gene': 'C2orf88', 'score': 4.16}, {'connected_gene': 'INPP1', 'score': 0.44}, {'connected_gene': 'GC02M190201', 'score': 0.23}]
chr2	GH02I190352	190352003	190354844	1.44	[{'connected_gene': 'HIBCH', 'score': 20.43}, {'connected_gene': 'INPP1', 'score': 15.83}, {'connected_gene': 'MFSD6', 'score': 4.3}, {'connected_gene': 'GC02P190361', 'score': 0.44}]
chr2	GH02I190342	190342485	190345173	1.95	[{'connected_gene': 'HIBCH', 'score': 579.28}, {'connected_gene': 'INPP1', 'score': 550.77}]
chr2	GH02I190318	190318257	190321086	2.09	[{'connected_gene': 'HIBCH', 'score': 598.4}, {'connected_gene': 'NEMP2', 'score': 15.26}, {'connected_gene': 'ORMDL1', 'score': 13.18}, {'connected_gene': 'WDR75', 'score': 11.44}, {'connected_gene': 'ANKAR', 'score': 11.22}, {'connected_gene': 'PMS1', 'score': 10.14}, {'connected_gene': 'INPP1', 'score': 0.34}, {'connected_gene': 'GC02M190201', 'score': 0.28}]
chr2	GH02I190626	190626401	190630193	1.35	[{'connected_gene': 'NEMP2', 'score': 21.71}, {'connected_gene': 'MFSD6', 'score': 16.38}, {'connected_gene': 'ENSG00000233654', 'score': 11.67}, {'connected_gene': 'NAB1', 'score': 8.6}, {'connected_gene': 'STAT1', 'score': 4.0}, {'connected_gene': 'INPP1', 'score': 1.33}, {'connected_gene': 'ENSG00000284052', 'score': 0.34}, {'connected_gene': 'GC02M190569', 'score': 0.22}]