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
ENST00000304895	[[65425670, 65426050], [65429309, 65429445], [65432717, 65432894], [65435268, 65435353], [65439281, 65439428], [65439512, 65439691], [65439905, 65440058], [65441001, 65441189], [65444385, 65444528], [65444713, 65444898], [65445210, 65445396], [65446960, 65447301]]	[[65425883, 65426050], [65429309, 65429445], [65432717, 65432894], [65435268, 65435353], [65439281, 65439428], [65439512, 65439691], [65439905, 65440058], [65441001, 65441189], [65444385, 65444528], [65444713, 65444898], [65445210, 65445396], [65446960, 65447170]]
ENST00000466883	[[65425674, 65426050], [65429309, 65429445], [65432717, 65432894], [65439281, 65441147]]	None
ENST00000447929	[[65425684, 65426050], [65429309, 65429445], [65432717, 65432894], [65435268, 65435353], [65439281, 65439428], [65439512, 65439691], [65439905, 65440058], [65441001, 65441189], [65444385, 65444528], [65445210, 65445396], [65446960, 65447183]]	[[65444489, 65444528], [65445210, 65445396], [65446960, 65447170]]
ENST00000430730	[[65425684, 65426050], [65429309, 65429445], [65432717, 65432894], [65435268, 65435353], [65439281, 65439428], [65439512, 65439691], [65439905, 65440058], [65441001, 65441189], [65445210, 65445396], [65446960, 65447202]]	[[65441180, 65441189], [65445210, 65445396], [65446960, 65447170]]
ENST00000421103	[[65425687, 65426050], [65429309, 65429445], [65432717, 65432894], [65435268, 65435353], [65439281, 65439428], [65439512, 65439691], [65439905, 65440058], [65444820, 65444898], [65445210, 65445396], [65446960, 65447198]]	[[65425883, 65426050], [65429309, 65429445], [65432717, 65432894], [65435268, 65435353], [65439281, 65439428], [65439512, 65439691], [65439905, 65440058], [65444820, 65444898], [65445210, 65445396], [65446960, 65447170]]
ENST00000345660	[[65425687, 65426050], [65429309, 65429445], [65432717, 65432894], [65435268, 65435353], [65439281, 65439428], [65439512, 65439691], [65441001, 65441189], [65444385, 65444528], [65444713, 65444898], [65445210, 65445396], [65446960, 65447198]]	[[65425883, 65426050], [65429309, 65429445], [65432717, 65432894], [65435268, 65435353], [65439281, 65439428], [65439512, 65439691], [65441001, 65441189], [65444385, 65444528], [65444713, 65444898], [65445210, 65445396], [65446960, 65447170]]
ENST00000461622	[[65429132, 65429445], [65432717, 65432895]]	None
ENST00000462371	[[65429316, 65429445], [65432717, 65432894], [65435268, 65435353], [65439281, 65439388], [65439512, 65439834]]	None
ENST00000465785	[[65439280, 65439428], [65439512, 65439691], [65441001, 65441189], [65444385, 65444495]]	None
ENST00000479038	[[65439343, 65439428], [65439512, 65439691], [65445210, 65445398]]	None
ENST00000489482	[[65439390, 65439428], [65439512, 65439993]]	None
ENST00000475316	[[65439489, 65439691], [65441001, 65441189], [65446960, 65447075]]	None
ENST00000476486	[[65439998, 65440058], [65441001, 65441189], [65444385, 65444528], [65444820, 65444898], [65445210, 65445396], [65446837, 65446958]]	None
ENST00000446111	[[65440838, 65441189], [65444372, 65444528], [65445210, 65445396], [65446960, 65447200]]	[[65444489, 65444528], [65445210, 65445396], [65446960, 65447170]]
ENST00000478118	[[65444464, 65444528], [65444713, 65444898], [65445210, 65445396], [65445680, 65445816]]	None
NM_000181	[[65425670, 65426050], [65429309, 65429445], [65432717, 65432894], [65435268, 65435353], [65439281, 65439428], [65439512, 65439691], [65439905, 65440058], [65441001, 65441189], [65444385, 65444528], [65444713, 65444898], [65445210, 65445396], [65446960, 65447301]]	[[65425883, 65426050], [65429309, 65429445], [65432717, 65432894], [65435268, 65435353], [65439281, 65439428], [65439512, 65439691], [65439905, 65440058], [65441001, 65441189], [65444385, 65444528], [65444713, 65444898], [65445210, 65445396], [65446960, 65447170]]
NR_120531	[[65425670, 65426050], [65429309, 65429445], [65432717, 65432894], [65439281, 65439428], [65439512, 65439691], [65439905, 65440058], [65441001, 65441189], [65444385, 65444528], [65444713, 65444898], [65445210, 65445396], [65446960, 65447301]]	None
NM_001284290	[[65425670, 65426050], [65429309, 65429445], [65432717, 65432894], [65435268, 65435353], [65439281, 65439428], [65439512, 65439691], [65439905, 65440058], [65444820, 65444898], [65445210, 65445396], [65446960, 65447301]]	[[65425883, 65426050], [65429309, 65429445], [65432717, 65432894], [65435268, 65435353], [65439281, 65439428], [65439512, 65439691], [65439905, 65440058], [65444820, 65444898], [65445210, 65445396], [65446960, 65447170]]
NM_001293104	[[65425670, 65426050], [65429309, 65429445], [65432717, 65432894], [65435268, 65435353], [65439281, 65439428], [65439512, 65439691], [65439905, 65440058], [65441001, 65441189], [65444385, 65444528], [65445210, 65445396], [65446960, 65447301]]	[[65425883, 65426050], [65429309, 65429445], [65432717, 65432894], [65435268, 65435353], [65439281, 65439428], [65439512, 65439691], [65439905, 65440058], [65441001, 65441189], [65444385, 65444528], [65445210, 65445221]]
NM_001293105	[[65425670, 65426050], [65429309, 65429445], [65432717, 65432894], [65435268, 65435353], [65439281, 65439428], [65439512, 65439691], [65439905, 65440058], [65441001, 65441189], [65445210, 65445396], [65446960, 65447301]]	[[65425883, 65426050], [65429309, 65429445], [65432717, 65432894], [65435268, 65435353], [65439281, 65439428], [65439512, 65439691], [65439905, 65440058], [65441001, 65441189], [65445210, 65445277]]

Promoter

Chrom	Start	End	Description
chr7	65444854	65444865	CAGE_peak_3_at_GUSB_5end
chr7	65447176	65447190	CAGE_peak_2_at_GUSB_5end
chr7	65447192	65447229	CAGE_peak_1_at_GUSB_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr7	GH07I065749	65749699	65752519	1.52	[{'connected_gene': 'CCT6P1', 'score': 557.44}, {'connected_gene': 'VKORC1L1', 'score': 35.12}, {'connected_gene': 'ENSG00000244657', 'score': 30.41}, {'connected_gene': 'LOC100996437', 'score': 26.61}, {'connected_gene': 'ENSG00000230189', 'score': 23.25}, {'connected_gene': 'LINC00174', 'score': 22.59}, {'connected_gene': 'ENSG00000229180', 'score': 22.14}, {'connected_gene': 'LOC84214', 'score': 19.46}, {'connected_gene': 'LOC100420547', 'score': 19.26}, {'connected_gene': 'GTF2IP9', 'score': 19.19}, {'connected_gene': 'RABGEF1', 'score': 13.8}, {'connected_gene': 'GTF2IP14', 'score': 11.78}, {'connected_gene': 'ZNF138', 'score': 10.05}, {'connected_gene': 'CRCP', 'score': 4.46}, {'connected_gene': 'GUSB', 'score': 3.86}, {'connected_gene': 'GC07P065756', 'score': 0.77}, {'connected_gene': 'GC07P065757', 'score': 0.77}, {'connected_gene': 'LOC441242', 'score': 0.37}]
chr7	GH07I064991	64991118	64991177	0.61	[{'connected_gene': 'ZNF117', 'score': 561.76}, {'connected_gene': 'GUSB', 'score': 12.52}, {'connected_gene': 'ZNF107', 'score': 12.05}, {'connected_gene': 'ERV3-1', 'score': 11.84}, {'connected_gene': 'ZNF736', 'score': 11.71}, {'connected_gene': 'LOC441239', 'score': 10.89}, {'connected_gene': 'LOC84214', 'score': 10.06}, {'connected_gene': 'VN1R43P', 'score': 0.37}]
chr7	GH07I065980	65980233	65983160	2.1	[{'connected_gene': 'GUSB', 'score': 563.88}, {'connected_gene': 'ENSG00000229180', 'score': 14.49}, {'connected_gene': 'RABGEF1', 'score': 13.82}, {'connected_gene': 'LOC100420547', 'score': 10.79}, {'connected_gene': 'TMEM248', 'score': 10.04}, {'connected_gene': 'VKORC1L1', 'score': 8.48}, {'connected_gene': 'GC07P065962', 'score': 0.34}, {'connected_gene': 'PIR55112', 'score': 0.34}]
chr7	GH07I066974	66974969	66975595	0.64	[{'connected_gene': 'LINC00174', 'score': 7.14}, {'connected_gene': 'GUSB', 'score': 4.41}, {'connected_gene': 'LOC100996437', 'score': 4.17}, {'connected_gene': 'LOC644794', 'score': 3.97}, {'connected_gene': 'RN7SL43P', 'score': 0.77}, {'connected_gene': 'TMEM248', 'score': 0.23}]
chr7	GH07I066113	66113867	66116343	2.07	[{'connected_gene': 'CRCP', 'score': 550.77}, {'connected_gene': 'LOC100996437', 'score': 38.39}, {'connected_gene': 'VKORC1L1', 'score': 28.03}, {'connected_gene': 'GS1-124K5.4', 'score': 20.42}, {'connected_gene': 'LOC100420547', 'score': 17.35}, {'connected_gene': 'ENSG00000229180', 'score': 16.69}, {'connected_gene': 'TMEM248', 'score': 12.64}, {'connected_gene': 'CCT6P1', 'score': 12.07}, {'connected_gene': 'ENSG00000244657', 'score': 12.03}, {'connected_gene': 'GUSB', 'score': 12.02}, {'connected_gene': 'TPST1', 'score': 11.88}, {'connected_gene': 'ENSG00000230189', 'score': 11.59}, {'connected_gene': 'LOC84214', 'score': 9.77}, {'connected_gene': 'GTF2IP9', 'score': 9.69}, {'connected_gene': 'RABGEF1', 'score': 8.23}, {'connected_gene': 'PIR35862', 'score': 0.39}, {'connected_gene': 'GC07P066127', 'score': 0.39}, {'connected_gene': 'GC07P066131', 'score': 0.39}, {'connected_gene': 'GC07P066129', 'score': 0.39}, {'connected_gene': 'GC07P066128', 'score': 0.39}, {'connected_gene': 'ENSG00000249319', 'score': 0.31}]
chr7	GH07I065373	65373188	65375322	2.02	[{'connected_gene': 'ZNF92', 'score': 550.77}, {'connected_gene': 'GTF2IP14', 'score': 48.26}, {'connected_gene': 'GUSB', 'score': 23.35}, {'connected_gene': 'CCT6P1', 'score': 13.01}, {'connected_gene': 'ZNF107', 'score': 12.19}, {'connected_gene': 'CCT6P3', 'score': 10.89}, {'connected_gene': 'ERV3-1', 'score': 10.4}, {'connected_gene': 'ENSG00000238124', 'score': 0.17}]
chr7	GH07I066043	66043601	66044983	0.77	[{'connected_gene': 'VKORC1L1', 'score': 32.47}, {'connected_gene': 'LOC84214', 'score': 14.82}, {'connected_gene': 'GUSB', 'score': 4.14}, {'connected_gene': 'LOC105375336', 'score': 0.44}, {'connected_gene': 'GC07P066070', 'score': 0.31}]
chr7	GH07I065983	65983914	65984716	0.67	[{'connected_gene': 'VKORC1L1', 'score': 34.84}, {'connected_gene': 'CCT6P1', 'score': 6.57}, {'connected_gene': 'GUSB', 'score': 0.77}, {'connected_gene': 'ENSG00000224365', 'score': 0.37}]
chr7	GH07I065927	65927000	65928474	0.88	[{'connected_gene': 'VKORC1L1', 'score': 35.15}, {'connected_gene': 'TMEM248', 'score': 13.56}, {'connected_gene': 'LOC100420547', 'score': 11.93}, {'connected_gene': 'ENSG00000229180', 'score': 11.27}, {'connected_gene': 'GUSB', 'score': 11.09}, {'connected_gene': 'ERV3-1', 'score': 10.37}, {'connected_gene': 'GC07M065776', 'score': 0.31}, {'connected_gene': 'GC07P065961', 'score': 0.31}, {'connected_gene': 'PIR33872', 'score': 0.31}, {'connected_gene': 'LOC105375335', 'score': 0.21}]
chr7	GH07I066098	66098593	66101200	1.2	[{'connected_gene': 'LOC100996437', 'score': 30.46}, {'connected_gene': 'LOC100420547', 'score': 29.79}, {'connected_gene': 'VKORC1L1', 'score': 27.6}, {'connected_gene': 'ENSG00000229180', 'score': 27.5}, {'connected_gene': 'TMEM248', 'score': 24.83}, {'connected_gene': 'CCT6P1', 'score': 22.41}, {'connected_gene': 'GUSB', 'score': 21.99}, {'connected_gene': 'GS1-124K5.4', 'score': 20.93}, {'connected_gene': 'TYW1', 'score': 15.93}, {'connected_gene': 'RABGEF1', 'score': 15.62}, {'connected_gene': 'ENSG00000244657', 'score': 12.03}, {'connected_gene': 'ENSG00000230189', 'score': 11.58}, {'connected_gene': 'RPL35P5', 'score': 10.27}, {'connected_gene': 'LOC84214', 'score': 9.77}, {'connected_gene': 'GTF2IP9', 'score': 9.69}, {'connected_gene': 'TPST1', 'score': 4.47}, {'connected_gene': 'ENSG00000249319', 'score': 0.39}, {'connected_gene': 'CRCP', 'score': 0.39}]
chr7	GH07I066930	66930394	66930563	0.92	[{'connected_gene': 'LOC100420547', 'score': 17.46}, {'connected_gene': 'ENSG00000229180', 'score': 17.09}, {'connected_gene': 'GUSB', 'score': 14.27}, {'connected_gene': 'TMEM248', 'score': 13.97}, {'connected_gene': 'TYW1', 'score': 12.99}, {'connected_gene': 'ENSG00000244657', 'score': 9.76}, {'connected_gene': 'RN7SL43P', 'score': 0.25}]