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

Promoter

Chrom	Start	End	Description
chr12	102455743	102455826	CAGE_peak_1_at_CCDC53_5end
chr12	102455846	102455872	CAGE_peak_2_at_CCDC53_5end
chr12	102455876	102455889	CAGE_peak_3_at_CCDC53_5end
chr12	102455905	102455915	CAGE_peak_5_at_CCDC53_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I102118	102118901	102122172	2.09	[{'connected_gene': 'NUP37', 'score': 560.99}, {'connected_gene': 'PARPBP', 'score': 560.45}, {'connected_gene': 'WASHC3', 'score': 19.86}, {'connected_gene': 'ENSG00000257222', 'score': 19.02}, {'connected_gene': 'PMCH', 'score': 10.74}, {'connected_gene': 'HELLPAR', 'score': 0.18}]
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	GH12I102060	102060617	102062732	2.01	[{'connected_gene': 'WASHC3', 'score': 585.47}, {'connected_gene': 'ENSG00000257222', 'score': 550.77}, {'connected_gene': 'UTP20', 'score': 19.1}, {'connected_gene': 'NUP37', 'score': 12.46}, {'connected_gene': 'PARPBP', 'score': 4.79}, {'connected_gene': 'NENFP2', 'score': 0.15}]
chr12	GH12I102009	102009918	102011667	0.91	[{'connected_gene': 'WASHC3', 'score': 24.77}, {'connected_gene': 'NENFP2', 'score': 0.25}, {'connected_gene': 'DRAM1', 'score': 0.12}]
chr12	GH12I102023	102023651	102023938	0.2	[{'connected_gene': 'WASHC3', 'score': 26.08}, {'connected_gene': 'NENFP2', 'score': 0.22}]
chr12	GH12I102059	102059000	102059793	0.86	[{'connected_gene': 'WASHC3', 'score': 5.12}, {'connected_gene': 'NENFP2', 'score': 0.15}]
chr12	GH12I102043	102043667	102044556	0.59	[{'connected_gene': 'WASHC3', 'score': 0.37}, {'connected_gene': 'NENFP2', 'score': 0.18}]
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	GH12I102231	102231872	102233128	0.2	[{'connected_gene': 'LOC100418882', 'score': 550.77}, {'connected_gene': 'PMCH', 'score': 11.79}, {'connected_gene': 'WASHC3', 'score': 4.33}, {'connected_gene': 'HELLPAR', 'score': 0.29}, {'connected_gene': 'PIR61643', 'score': 0.28}]
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}]

Transcript ID	Transcript exon region	Coding exon region
ENST00000538761	[[102406704, 102406970], [102419751, 102419816], [102433645, 102433756], [102437882, 102437990], [102439831, 102439897], [102442067, 102442175], [102455025, 102455124], [102455689, 102455752]]	[[102442172, 102442175], [102455025, 102455124], [102455689, 102455740]]
ENST00000240079	[[102406716, 102406970], [102419751, 102419816], [102433645, 102433756], [102437882, 102437990], [102439831, 102439897], [102455025, 102455124], [102455689, 102455902]]	[[102406885, 102406970], [102419751, 102419816], [102433645, 102433756], [102437882, 102437990], [102439831, 102439897], [102455025, 102455124], [102455689, 102455740]]
ENST00000544341	[[102406719, 102406970], [102411497, 102411583], [102419751, 102419816], [102433645, 102433753], [102437882, 102437990], [102439831, 102439897], [102455025, 102455124], [102455689, 102455851]]	[[102411558, 102411583], [102419751, 102419816], [102433645, 102433753], [102437882, 102437990], [102439831, 102439897], [102455025, 102455124], [102455689, 102455740]]
ENST00000545679	[[102406719, 102406970], [102419751, 102419816], [102433645, 102433753], [102437882, 102437990], [102439831, 102439897], [102455025, 102455124], [102455689, 102455857]]	[[102406885, 102406970], [102419751, 102419816], [102433645, 102433753], [102437882, 102437990], [102439831, 102439897], [102455025, 102455124], [102455689, 102455740]]
ENST00000540536	[[102406720, 102406970], [102413054, 102413149], [102419751, 102419816], [102433645, 102433756], [102437882, 102437990], [102439831, 102439897], [102455025, 102455124], [102455689, 102455778]]	[[102413139, 102413149], [102419751, 102419816], [102433645, 102433756], [102437882, 102437990], [102439831, 102439897], [102455025, 102455124], [102455689, 102455740]]
ENST00000535501	[[102406721, 102406970], [102419751, 102419816], [102433645, 102433753], [102437882, 102437990], [102439831, 102439897], [102443966, 102444069], [102455025, 102455124], [102455689, 102455812]]	[[102444033, 102444069], [102455025, 102455124], [102455689, 102455740]]
ENST00000536197	[[102406723, 102406970], [102419751, 102419816], [102433645, 102434212]]	None
ENST00000542923	[[102406732, 102406970], [102419751, 102419816], [102437882, 102437990], [102439831, 102439897]]	[[102406885, 102406970], [102419751, 102419816], [102437882, 102437990], [102439831, 102439897]]
ENST00000539515	[[102413054, 102413149], [102419751, 102419816], [102433645, 102433753], [102437882, 102437990], [102439831, 102439897], [102443966, 102444069], [102455025, 102455124], [102455883, 102455927]]	None
ENST00000541569	[[102419698, 102419816], [102433645, 102433756], [102437882, 102437990], [102439831, 102439897], [102455025, 102455124], [102455689, 102455756]]	None
ENST00000500685	[[102433661, 102433753], [102437882, 102437990], [102439831, 102439897], [102444295, 102444417], [102455025, 102455124], [102455689, 102455790]]	[[102444333, 102444417], [102455025, 102455124], [102455689, 102455740]]
ENST00000326351	[[102437392, 102437990], [102439831, 102439897], [102455025, 102455124], [102455689, 102455769]]	None
ENST00000536930	[[102453441, 102453568], [102455025, 102455124], [102455689, 102455752]]	None
NM_016053	[[102406617, 102406970], [102419751, 102419816], [102433645, 102433756], [102437882, 102437990], [102439831, 102439897], [102455025, 102455124], [102455689, 102455902]]	[[102406885, 102406970], [102419751, 102419816], [102433645, 102433756], [102437882, 102437990], [102439831, 102439897], [102455025, 102455124], [102455689, 102455740]]
NM_001301107	[[102406617, 102406970], [102419751, 102419816], [102433645, 102433753], [102437882, 102437990], [102439831, 102439897], [102455025, 102455124], [102455689, 102455902]]	[[102406885, 102406970], [102419751, 102419816], [102433645, 102433753], [102437882, 102437990], [102439831, 102439897], [102455025, 102455124], [102455689, 102455740]]