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
ENST00000456098	[[102789644, 102796344], [102811732, 102811781], [102813286, 102813468], [102869420, 102869577], [102874096, 102874378]]	[[102796318, 102796344], [102811732, 102811781], [102813286, 102813468], [102869420, 102869577], [102874096, 102874159]]
ENST00000337514	[[102789651, 102796344], [102813286, 102813468], [102869420, 102869577], [102874096, 102874423]]	[[102796284, 102796344], [102813286, 102813468], [102869420, 102869577], [102874096, 102874159]]
ENST00000481539	[[102796024, 102796344], [102809481, 102809524]]	None
ENST00000392904	[[102796105, 102796344], [102811732, 102811781], [102813286, 102813468], [102869420, 102869577], [102874096, 102874178], [102874364, 102874416]]	[[102796318, 102796344], [102811732, 102811781], [102813286, 102813468], [102869420, 102869577], [102874096, 102874159]]
ENST00000424202	[[102796236, 102796344], [102813286, 102813468], [102869420, 102869577], [102872264, 102872429]]	[[102796284, 102796344], [102813286, 102813468], [102869420, 102869577], [102872264, 102872279]]
ENST00000392905	[[102796294, 102796344], [102811732, 102811781], [102813286, 102813468], [102869420, 102869577], [102874096, 102874102]]	[[102796318, 102796344], [102811732, 102811781], [102813286, 102813468], [102869420, 102869577], [102874096, 102874102]]
ENST00000307046	[[102811268, 102811781], [102813286, 102813468], [102869420, 102869577], [102874096, 102874341]]	[[102811595, 102811781], [102813286, 102813468], [102869420, 102869577], [102874096, 102874159]]
NM_001111284	[[102789644, 102796344], [102813286, 102813468], [102869420, 102869577], [102872264, 102872429]]	[[102796284, 102796344], [102813286, 102813468], [102869420, 102869577], [102872264, 102872279]]
NM_001111283	[[102789644, 102796344], [102811732, 102811781], [102813286, 102813468], [102869420, 102869577], [102874096, 102874423]]	[[102796318, 102796344], [102811732, 102811781], [102813286, 102813468], [102869420, 102869577], [102874096, 102874159]]
NM_000618	[[102789644, 102796344], [102813286, 102813468], [102869420, 102869577], [102874096, 102874423]]	[[102796284, 102796344], [102813286, 102813468], [102869420, 102869577], [102874096, 102874159]]
NM_001111285	[[102811268, 102811781], [102813286, 102813468], [102869420, 102869577], [102874096, 102874423]]	[[102811595, 102811781], [102813286, 102813468], [102869420, 102869577], [102874096, 102874159]]

Promoter

Chrom	Start	End	Description
chr12	102872317	102872350	CAGE_peak_2_at_IGF1_5end
chr12	102872651	102872687	CAGE_peak_9_at_IGF1_5end
chr12	102874242	102874255	CAGE_peak_6_at_IGF1_5end
chr12	102874261	102874275	CAGE_peak_4_at_IGF1_5end
chr12	102874293	102874309	CAGE_peak_5_at_IGF1_5end
chr12	102874314	102874327	CAGE_peak_3_at_IGF1_5end
chr12	102874330	102874350	CAGE_peak_1_at_IGF1_5end
chr12	102874382	102874394	CAGE_peak_7_at_IGF1_5end
chr12	102874416	102874425	CAGE_peak_8_at_IGF1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I102415	102415636	102417264	0.82	[{'connected_gene': 'WASHC3', 'score': 19.68}, {'connected_gene': 'IGF1', 'score': 10.85}, {'connected_gene': 'PARPBP', 'score': 4.35}, {'connected_gene': 'GC12M102404', 'score': 0.44}, {'connected_gene': 'GC12M102374', 'score': 0.26}, {'connected_gene': 'LINC02456', 'score': 0.12}]
chr12	GH12I102417	102417367	102418686	0.82	[{'connected_gene': 'WASHC3', 'score': 19.69}, {'connected_gene': 'IGF1', 'score': 10.85}, {'connected_gene': 'GC12M102404', 'score': 0.44}, {'connected_gene': 'GC12M102374', 'score': 0.26}, {'connected_gene': 'LINC02456', 'score': 0.12}]
chr12	GH12I102405	102405771	102413587	0.87	[{'connected_gene': 'WASHC3', 'score': 16.14}, {'connected_gene': 'GC12M102404', 'score': 0.37}, {'connected_gene': 'GC12M102374', 'score': 0.29}, {'connected_gene': 'IGF1', 'score': 0.19}, {'connected_gene': 'LINC02456', 'score': 0.13}]
chr12	GH12I102436	102436227	102436272	0.4	[{'connected_gene': 'WASHC3', 'score': 13.37}, {'connected_gene': 'IGF1', 'score': 10.36}, {'connected_gene': 'GC12M102404', 'score': 0.39}, {'connected_gene': 'LINC02456', 'score': 0.1}]
chr12	GH12I102462	102462896	102463873	0.79	[{'connected_gene': 'WASHC3', 'score': 19.38}, {'connected_gene': 'IGF1', 'score': 0.37}, {'connected_gene': 'GC12M102404', 'score': 0.28}, {'connected_gene': 'LINC02456', 'score': 0.09}]
chr12	GH12I102438	102438019	102440525	0.96	[{'connected_gene': 'WASHC3', 'score': 13.37}, {'connected_gene': 'IGF1', 'score': 11.34}, {'connected_gene': 'GC12M102404', 'score': 0.39}, {'connected_gene': 'LINC02456', 'score': 0.1}]
chr12	GH12I101942	101942383	101942532	0.4	[{'connected_gene': 'IGF1', 'score': 10.25}, {'connected_gene': 'GNPTAB', 'score': 5.33}, {'connected_gene': 'RPL9P24', 'score': 0.44}, {'connected_gene': 'ENSG00000258308', 'score': 0.37}, {'connected_gene': 'DRAM1', 'score': 0.2}]
chr12	GH12I102503	102503363	102503492	0.69	[{'connected_gene': 'IGF1', 'score': 11.26}, {'connected_gene': 'PMCH', 'score': 9.99}, {'connected_gene': 'GC12P102490', 'score': 0.39}, {'connected_gene': 'ENSG00000257254', 'score': 0.39}]
chr12	GH12I102398	102398370	102399430	0.2	[{'connected_gene': 'IGF1', 'score': 10.35}, {'connected_gene': 'WASHC3', 'score': 9.83}, {'connected_gene': 'GC12M102374', 'score': 0.34}, {'connected_gene': 'GC12M102404', 'score': 0.31}, {'connected_gene': 'LINC02456', 'score': 0.13}, {'connected_gene': 'HELLPAR', 'score': 0.08}]
chr12	GH12I102534	102534423	102536836	0.43	[{'connected_gene': 'IGF1', 'score': 10.97}, {'connected_gene': 'WASHC3', 'score': 4.87}, {'connected_gene': 'GC12M102541', 'score': 0.37}, {'connected_gene': 'ENSG00000257254', 'score': 0.34}]
chr12	GH12I102538	102538753	102541644	0.88	[{'connected_gene': 'IGF1', 'score': 10.96}, {'connected_gene': 'WASHC3', 'score': 6.99}, {'connected_gene': 'GC12M102541', 'score': 0.39}, {'connected_gene': 'ENSG00000257254', 'score': 0.31}]
chr12	GH12I102454	102454657	102456004	0.86	[{'connected_gene': 'IGF1', 'score': 11.87}, {'connected_gene': 'GC12M102404', 'score': 0.31}, {'connected_gene': 'LINC02456', 'score': 0.09}]
chr12	GH12I102429	102429763	102430017	1.02	[{'connected_gene': 'IGF1', 'score': 10.78}, {'connected_gene': 'GC12M102404', 'score': 0.77}, {'connected_gene': 'LINC02456', 'score': 0.11}]
chr12	GH12I102430	102430763	102430912	0.4	[{'connected_gene': 'IGF1', 'score': 10.7}, {'connected_gene': 'GC12M102404', 'score': 0.44}, {'connected_gene': 'LINC02456', 'score': 0.11}]
chr12	GH12I101941	101941223	101942329	0.83	[{'connected_gene': 'IGF1', 'score': 10.25}, {'connected_gene': 'RPL9P24', 'score': 0.44}, {'connected_gene': 'ENSG00000258308', 'score': 0.34}, {'connected_gene': 'DRAM1', 'score': 0.21}]
chr12	GH12I102548	102548663	102548812	0.46	[{'connected_gene': 'IGF1', 'score': 10.45}, {'connected_gene': 'GC12M102541', 'score': 0.77}, {'connected_gene': 'ENSG00000257254', 'score': 0.28}]
chr12	GH12I102545	102545147	102545315	0.2	[{'connected_gene': 'IGF1', 'score': 10.35}, {'connected_gene': 'GC12M102541', 'score': 0.44}, {'connected_gene': 'ENSG00000257254', 'score': 0.29}]
chr12	GH12I102508	102508643	102509872	0.2	[{'connected_gene': 'IGF1', 'score': 11.17}, {'connected_gene': 'ENSG00000257254', 'score': 0.77}, {'connected_gene': 'GC12P102490', 'score': 0.37}]
chr12	GH12I102542	102542638	102544806	0.46	[{'connected_gene': 'IGF1', 'score': 10.64}, {'connected_gene': 'GC12M102541', 'score': 0.44}, {'connected_gene': 'ENSG00000257254', 'score': 0.29}]
chr12	GH12I102504	102503801	102504000	0.31	[{'connected_gene': 'IGF1', 'score': 11.26}, {'connected_gene': 'ENSG00000257254', 'score': 0.44}, {'connected_gene': 'GC12P102490', 'score': 0.39}]
chr12	GH12I102527	102527303	102527452	0.43	[{'connected_gene': 'IGF1', 'score': 10.26}, {'connected_gene': 'ENSG00000257254', 'score': 0.39}, {'connected_gene': 'GC12M102541', 'score': 0.34}]
chr12	GH12I102474	102474603	102474752	1.04	[{'connected_gene': 'IGF1', 'score': 0.44}, {'connected_gene': 'GC12M102404', 'score': 0.25}]
chr12	GH12I102483	102483831	102485232	1.21	[{'connected_gene': 'IGF1', 'score': 0.77}, {'connected_gene': 'GC12P102490', 'score': 0.44}]
chr12	GH12I102478	102478051	102482275	1.81	[{'connected_gene': 'IGF1', 'score': 550.77}, {'connected_gene': 'GC12M102404', 'score': 0.23}]
chr12	GH12I101929	101929915	101940421	1.61	[{'connected_gene': 'RPL9P24', 'score': 550.77}, {'connected_gene': 'GNPTAB', 'score': 15.23}, {'connected_gene': 'WASHC3', 'score': 10.53}, {'connected_gene': 'IGF1', 'score': 10.25}, {'connected_gene': 'RNA5SP369', 'score': 10.14}, {'connected_gene': 'RNU6-101P', 'score': 9.92}, {'connected_gene': 'SYCP3', 'score': 9.42}, {'connected_gene': 'DRAM1', 'score': 8.55}, {'connected_gene': 'CHPT1', 'score': 7.05}, {'connected_gene': 'GC12P101929', 'score': 0.44}]
chr12	GH12I102427	102426925	102427987	0.89	[{'connected_gene': 'GC12M102404', 'score': 550.77}, {'connected_gene': 'WASHC3', 'score': 13.29}, {'connected_gene': 'IGF1', 'score': 10.78}, {'connected_gene': 'LINC02456', 'score': 0.11}]
chr12	GH12I102465	102465964	102469470	0.66	[{'connected_gene': 'ENSG00000257222', 'score': 32.78}, {'connected_gene': 'WASHC3', 'score': 19.38}, {'connected_gene': 'ST13P22', 'score': 11.87}, {'connected_gene': 'IGF1', 'score': 0.39}, {'connected_gene': 'GC12M102404', 'score': 0.26}]
chr12	GH12I102426	102426723	102426872	0.51	[{'connected_gene': 'GC12M102404', 'score': 550.77}, {'connected_gene': 'IGF1', 'score': 10.78}, {'connected_gene': 'LINC02456', 'score': 0.11}]
chr12	GH12I101924	101924313	101928600	1.1	[{'connected_gene': 'ENSG00000257202', 'score': 550.77}, {'connected_gene': 'GC12P101926', 'score': 550.77}, {'connected_gene': 'GC12P101925', 'score': 550.77}, {'connected_gene': 'RNA5SP369', 'score': 10.15}, {'connected_gene': 'GNPTAB', 'score': 10.14}, {'connected_gene': 'IGF1', 'score': 9.85}, {'connected_gene': 'SYCP3', 'score': 9.43}, {'connected_gene': 'DRAM1', 'score': 9.26}, {'connected_gene': 'CHPT1', 'score': 8.36}, {'connected_gene': 'GC12P101929', 'score': 0.77}]