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
ENST00000447591	[[120997639, 120997701], [121036193, 121036354], [121043449, 121043658], [121047155, 121047281]]	[[120997682, 120997701], [121036193, 121036354], [121043449, 121043658], [121047155, 121047281]]
ENST00000474855	[[120997639, 120997701], [121036193, 121036354], [121043449, 121043658], [121047155, 121047333], [121050716, 121051689]]	[[120997682, 120997701], [121036193, 121036354], [121043449, 121043658], [121047155, 121047333], [121050716, 121050836]]
ENST00000272519	[[121010333, 121010556], [121036193, 121036354], [121043449, 121043658], [121047155, 121047333], [121050716, 121052289]]	[[121036240, 121036354], [121043449, 121043658], [121047155, 121047333], [121050716, 121050836]]
ENST00000420510	[[121010380, 121010556], [121036190, 121036354], [121043449, 121043658], [121047155, 121047333], [121050716, 121051241]]	[[121036240, 121036354], [121043449, 121043658], [121047155, 121047333], [121050716, 121050836]]
ENST00000431732	[[121010425, 121010556], [121036193, 121036354], [121038410, 121038483], [121043449, 121043658], [121047155, 121047333], [121050716, 121050731]]	[[121036240, 121036354], [121038410, 121038437]]
ENST00000404963	[[121010428, 121010556], [121036193, 121036344], [121038410, 121038483], [121043449, 121043658], [121047155, 121047333], [121050716, 121052285]]	[[121036240, 121036344], [121038410, 121038483], [121043449, 121043658], [121047155, 121047333], [121050716, 121050836]]
ENST00000470417	[[121010450, 121010556], [121036193, 121036288], [121043642, 121043658], [121047155, 121047333], [121050716, 121052252]]	None
ENST00000412383	[[121010874, 121011307], [121036193, 121036354], [121043449, 121043658], [121047155, 121047333]]	[[121036240, 121036354], [121043449, 121043658], [121047155, 121047333]]
ENST00000449649	[[121011026, 121011307], [121036190, 121036354], [121043449, 121043658], [121047155, 121047168]]	[[121036240, 121036354], [121043449, 121043658], [121047155, 121047168]]
NM_002881	[[121010413, 121010556], [121036193, 121036354], [121043449, 121043658], [121047155, 121047333], [121050716, 121052286]]	[[121036240, 121036354], [121043449, 121043658], [121047155, 121047333], [121050716, 121050836]]

Promoter

Chrom	Start	End	Description
chr2	121010324	121010339	CAGE_peak_5_at_RALB_5end
chr2	121010370	121010405	CAGE_peak_3_at_RALB_5end
chr2	121010413	121010460	CAGE_peak_1_at_RALB_5end
chr2	121010488	121010540	CAGE_peak_2_at_RALB_5end
chr2	121010632	121010648	CAGE_peak_9_at_RALB_5end
chr2	121011117	121011127	CAGE_peak_16_at_RALB_5end
chr2	121036309	121036313	CAGE_peak_6_at_RALB_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I120228	120228705	120228854	0.49	[{'connected_gene': 'TMEM185B', 'score': 0.44}, {'connected_gene': 'RALB', 'score': 0.39}]
chr2	GH02I120227	120227242	120228339	0.76	[{'connected_gene': 'TMEM185B', 'score': 0.77}, {'connected_gene': 'RALB', 'score': 0.39}]
chr2	GH02I120222	120222267	120224447	2.01	[{'connected_gene': 'TMEM185B', 'score': 559.9}, {'connected_gene': 'PIR50435', 'score': 550.77}, {'connected_gene': 'RALB', 'score': 7.33}]
chr2	GH02I120203	120203211	120203800	0.77	[{'connected_gene': 'RALB', 'score': 25.15}, {'connected_gene': 'TMEM185B', 'score': 4.89}, {'connected_gene': 'MTATP6P26', 'score': 0.44}, {'connected_gene': 'ENSG00000224789', 'score': 0.39}, {'connected_gene': 'ENSG00000202046', 'score': 0.39}]
chr2	GH02I120230	120230062	120233877	1.23	[{'connected_gene': 'RALB', 'score': 21.7}, {'connected_gene': 'TMEM185B', 'score': 0.44}]
chr2	GH02I120237	120237361	120240805	1.5	[{'connected_gene': 'RALB', 'score': 565.73}, {'connected_gene': 'ENSG00000224789', 'score': 11.6}, {'connected_gene': 'EPB41L5', 'score': 4.42}, {'connected_gene': 'LOC105373583', 'score': 0.44}, {'connected_gene': 'TMEM185B', 'score': 0.37}]
chr2	GH02I120266	120266001	120267200	0.31	[{'connected_gene': 'RALB', 'score': 27.78}, {'connected_gene': 'GLI2', 'score': 4.52}, {'connected_gene': 'LOC105373583', 'score': 0.34}, {'connected_gene': 'PIR31138', 'score': 0.31}]
chr2	GH02I120257	120257401	120258400	1.03	[{'connected_gene': 'RALB', 'score': 7.29}, {'connected_gene': 'GLI2', 'score': 4.5}, {'connected_gene': 'LOC105373583', 'score': 0.39}, {'connected_gene': 'PIR31138', 'score': 0.28}]
chr2	GH02I120286	120286459	120288607	0.96	[{'connected_gene': 'RALB', 'score': 29.05}, {'connected_gene': 'ENSG00000224789', 'score': 11.37}, {'connected_gene': 'GLI2', 'score': 5.19}, {'connected_gene': 'PIR31138', 'score': 0.44}, {'connected_gene': 'LOC105373583', 'score': 0.26}]
chr2	GH02I120264	120264714	120265799	0.63	[{'connected_gene': 'RALB', 'score': 27.19}, {'connected_gene': 'GLI2', 'score': 4.66}, {'connected_gene': 'LOC105373583', 'score': 0.37}, {'connected_gene': 'PIR31138', 'score': 0.31}]
chr2	GH02I120255	120255830	120256541	0.52	[{'connected_gene': 'RALB', 'score': 28.44}, {'connected_gene': 'GLI2', 'score': 4.49}, {'connected_gene': 'LOC105373583', 'score': 0.39}, {'connected_gene': 'PIR31138', 'score': 0.28}]
chr2	GH02I120251	120251500	120254943	2.47	[{'connected_gene': 'RALB', 'score': 595.93}, {'connected_gene': 'C2orf76', 'score': 10.45}, {'connected_gene': 'GLI2', 'score': 10.39}, {'connected_gene': 'MTND4P26', 'score': 10.14}, {'connected_gene': 'TMEM185B', 'score': 3.12}, {'connected_gene': 'LOC105373583', 'score': 0.44}, {'connected_gene': 'PIR31138', 'score': 0.26}]
chr2	GH02I120261	120261118	120263450	1.04	[{'connected_gene': 'RALB', 'score': 27.81}, {'connected_gene': 'LOC105373583', 'score': 0.37}, {'connected_gene': 'PIR31138', 'score': 0.29}]
chr2	GH02I120267	120267401	120267600	0.31	[{'connected_gene': 'RALB', 'score': 27.78}, {'connected_gene': 'LOC105373583', 'score': 0.34}, {'connected_gene': 'PIR31138', 'score': 0.31}]
chr2	GH02I120290	120290139	120292775	0.86	[{'connected_gene': 'RALB', 'score': 39.41}, {'connected_gene': 'ENSG00000224789', 'score': 11.37}, {'connected_gene': 'PIR31138', 'score': 0.77}, {'connected_gene': 'LOC105373583', 'score': 0.25}]
chr2	GH02I119808	119808601	119810665	0.99	[{'connected_gene': 'RALB', 'score': 4.79}, {'connected_gene': 'LOC101927764', 'score': 0.25}, {'connected_gene': 'PTPN4', 'score': 0.23}, {'connected_gene': 'GC02P119982', 'score': 0.09}]
chr2	GH02I120312	120312777	120315279	1.12	[{'connected_gene': 'RALB', 'score': 17.18}, {'connected_gene': 'ENSG00000235840', 'score': 0.77}, {'connected_gene': 'PIR31138', 'score': 0.34}]
chr2	GH02I120242	120242985	120246872	1.29	[{'connected_gene': 'LOC105373583', 'score': 550.77}, {'connected_gene': 'RALB', 'score': 23.98}, {'connected_gene': 'ENSG00000224789', 'score': 11.58}, {'connected_gene': 'C2orf76', 'score': 5.16}]
chr2	GH02I120293	120293268	120294427	0.38	[{'connected_gene': 'PIR31138', 'score': 550.77}, {'connected_gene': 'RALB', 'score': 39.46}, {'connected_gene': 'GLI2', 'score': 4.43}, {'connected_gene': 'LOC105373583', 'score': 0.25}]
chr2	GH02I120289	120289643	120289881	0.31	[{'connected_gene': 'ENSG00000224789', 'score': 11.37}, {'connected_gene': 'PIR31138', 'score': 0.77}, {'connected_gene': 'LOC105373583', 'score': 0.26}, {'connected_gene': 'RALB', 'score': 0.25}]
chr2	GH02I120272	120272800	120273600	0.89	[{'connected_gene': 'PIR31138', 'score': 0.34}, {'connected_gene': 'LOC105373583', 'score': 0.31}, {'connected_gene': 'RALB', 'score': 0.29}]
chr2	GH02I120279	120279145	120279294	0.46	[{'connected_gene': 'PIR31138', 'score': 0.39}, {'connected_gene': 'LOC105373583', 'score': 0.29}, {'connected_gene': 'RALB', 'score': 0.28}]
chr2	GH02I120283	120283805	120283914	0.56	[{'connected_gene': 'PIR31138', 'score': 0.39}, {'connected_gene': 'LOC105373583', 'score': 0.28}, {'connected_gene': 'RALB', 'score': 0.26}]