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
ENST00000592042	[[74620842, 74621609], [74621900, 74622000], [74622087, 74622177], [74622370, 74622474], [74622732, 74622871], [74623148, 74623320], [74623496, 74623665], [74625093, 74625793], [74633681, 74633818], [74639589, 74639868]]	[[74633757, 74633818], [74639589, 74639720]]
ENST00000359088	[[74620844, 74621609], [74621900, 74622000], [74622087, 74622177], [74622732, 74622871], [74623148, 74623320], [74623496, 74623665], [74625093, 74625793], [74639589, 74639775]]	[[74621985, 74622000], [74622087, 74622177], [74622732, 74622871], [74623148, 74623320], [74623496, 74623665], [74625093, 74625793], [74639589, 74639720]]
ENST00000156626	[[74620844, 74621609], [74621900, 74622000], [74622087, 74622177], [74622370, 74622474], [74622732, 74622871], [74623148, 74623320], [74623496, 74623665], [74625093, 74625793], [74639589, 74639920]]	[[74621411, 74621609], [74621900, 74622000], [74622087, 74622177], [74622370, 74622474], [74622732, 74622871], [74623148, 74623320], [74623496, 74623665], [74625093, 74625793], [74639589, 74639720]]
ENST00000585633	[[74621206, 74621609], [74621900, 74622000], [74622087, 74622177], [74622399, 74622473]]	[[74621985, 74622000], [74622087, 74622177], [74622399, 74622473]]
ENST00000588375	[[74621729, 74622177], [74622732, 74622871], [74623148, 74623194]]	None
ENST00000590784	[[74621931, 74622000], [74622132, 74622177], [74622370, 74622474], [74622732, 74622871], [74623148, 74623249]]	[[74621931, 74622000], [74622132, 74622177], [74622370, 74622474], [74622732, 74622871], [74623148, 74623249]]
ENST00000589004	[[74622087, 74622177], [74622370, 74622474], [74623148, 74623320], [74623496, 74623665], [74625093, 74625316]]	None
ENST00000590878	[[74623179, 74623354], [74623496, 74623665], [74625093, 74625793], [74639589, 74639856]]	None
ENST00000589813	[[74625476, 74625793], [74637889, 74637986], [74639589, 74639742]]	[[74637973, 74637986], [74639589, 74639720]]
ENST00000590915	[[74629676, 74629897], [74639589, 74639839]]	None
ENST00000589992	[[74633552, 74633818], [74639589, 74639742]]	[[74633757, 74633818], [74639589, 74639720]]
NM_001289107	[[74620837, 74621609], [74621900, 74622000], [74622087, 74622177], [74622370, 74622474], [74622732, 74622871], [74623148, 74623320], [74623496, 74623665], [74625093, 74625793], [74633681, 74633818], [74639589, 74639920]]	[[74621411, 74621609], [74621900, 74622000], [74622087, 74622177], [74622370, 74622474], [74622732, 74622871], [74623148, 74623320], [74623496, 74623665], [74625093, 74625528]]
NM_018414	[[74620837, 74621609], [74621900, 74622000], [74622087, 74622177], [74622370, 74622474], [74622732, 74622871], [74623148, 74623320], [74623496, 74623665], [74625093, 74625793], [74639589, 74639920]]	[[74621411, 74621609], [74621900, 74622000], [74622087, 74622177], [74622370, 74622474], [74622732, 74622871], [74623148, 74623320], [74623496, 74623665], [74625093, 74625793], [74639589, 74639720]]
NR_110309	[[74620837, 74621609], [74621900, 74622000], [74622087, 74622177], [74622732, 74622871], [74623148, 74623320], [74623496, 74623665], [74625093, 74625793], [74639589, 74639920]]	None

Promoter

Chrom	Start	End	Description
chr17	74639730	74639811	CAGE_peak_1_at_ST6GALNAC1_5end
chr17	74639812	74639822	CAGE_peak_4_at_ST6GALNAC1_5end
chr17	74639830	74639844	CAGE_peak_2_at_ST6GALNAC1_5end
chr17	74639886	74639899	CAGE_peak_3_at_ST6GALNAC1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I076637	76637575	76637868	0.2	[{'connected_gene': 'PRCD', 'score': 11.83}, {'connected_gene': 'UBE2O', 'score': 10.52}, {'connected_gene': 'AANAT', 'score': 10.52}, {'connected_gene': 'ST6GALNAC1', 'score': 0.44}, {'connected_gene': 'GC17M076570', 'score': 0.26}]
chr17	GH17I076599	76599623	76603301	1.18	[{'connected_gene': 'SRSF2', 'score': 28.79}, {'connected_gene': 'UNK', 'score': 28.01}, {'connected_gene': 'ENSG00000267342', 'score': 23.23}, {'connected_gene': 'METTL23', 'score': 20.23}, {'connected_gene': 'TRIM65', 'score': 14.58}, {'connected_gene': 'ENSG00000267801', 'score': 13.2}, {'connected_gene': 'RNU6-227P', 'score': 12.82}, {'connected_gene': 'ENSG00000267546', 'score': 12.57}, {'connected_gene': 'H3F3B', 'score': 12.48}, {'connected_gene': 'ST6GALNAC2', 'score': 12.37}, {'connected_gene': 'SNORD1B', 'score': 12.34}, {'connected_gene': 'SNHG16', 'score': 11.88}, {'connected_gene': 'PRCD', 'score': 11.75}, {'connected_gene': 'CYGB', 'score': 11.61}, {'connected_gene': 'SEPT9', 'score': 11.22}, {'connected_gene': 'SAP30BP', 'score': 11.04}, {'connected_gene': 'UBE2O', 'score': 10.79}, {'connected_gene': 'AANAT', 'score': 10.79}, {'connected_gene': 'JMJD6', 'score': 10.48}, {'connected_gene': 'ENSG00000272386', 'score': 10.45}, {'connected_gene': 'SRP68', 'score': 10.21}, {'connected_gene': 'SPHK1', 'score': 10.15}, {'connected_gene': 'MXRA7', 'score': 9.59}, {'connected_gene': 'GC17M076570', 'score': 0.44}, {'connected_gene': 'ST6GALNAC1', 'score': 0.26}]
chr17	GH17I076638	76638758	76646556	1.96	[{'connected_gene': 'ST6GALNAC1', 'score': 558.56}, {'connected_gene': 'UNK', 'score': 46.18}, {'connected_gene': 'SRSF2', 'score': 41.2}, {'connected_gene': 'MXRA7', 'score': 34.91}, {'connected_gene': 'METTL23', 'score': 31.33}, {'connected_gene': 'ENSG00000267342', 'score': 26.63}, {'connected_gene': 'SEPT9', 'score': 21.71}, {'connected_gene': 'CDK3', 'score': 19.96}, {'connected_gene': 'SAP30BP', 'score': 19.04}, {'connected_gene': 'ENSG00000266980', 'score': 13.89}, {'connected_gene': 'H3F3B', 'score': 12.48}, {'connected_gene': 'MFSD11', 'score': 12.46}, {'connected_gene': 'JMJD6', 'score': 10.88}, {'connected_gene': 'TRIM65', 'score': 10.74}, {'connected_gene': 'UBE2O', 'score': 10.4}, {'connected_gene': 'AANAT', 'score': 10.4}, {'connected_gene': 'RECQL5', 'score': 10.33}, {'connected_gene': 'RNU6-24P', 'score': 10.22}, {'connected_gene': 'PRPSAP1', 'score': 9.97}, {'connected_gene': 'GC17M076644', 'score': 0.44}, {'connected_gene': 'GC17M076570', 'score': 0.25}]
chr17	GH17I076634	76634794	76635510	0.2	[{'connected_gene': 'ST6GALNAC1', 'score': 0.44}, {'connected_gene': 'GC17M076570', 'score': 0.28}]
chr17	GH17I076629	76629973	76630509	0.63	[{'connected_gene': 'MXRA7', 'score': 9.89}, {'connected_gene': 'ST6GALNAC1', 'score': 5.18}, {'connected_gene': 'GC17M076570', 'score': 0.29}]
chr17	GH17I076633	76633557	76634620	0.79	[{'connected_gene': 'MXRA7', 'score': 16.22}, {'connected_gene': 'ST6GALNAC1', 'score': 8.52}, {'connected_gene': 'GC17M076570', 'score': 0.28}]
chr17	GH17I076631	76631533	76632855	0.69	[{'connected_gene': 'MXRA7', 'score': 8.38}, {'connected_gene': 'ST6GALNAC1', 'score': 0.39}, {'connected_gene': 'GC17M076570', 'score': 0.28}]
chr17	GH17I076623	76623336	76624341	1.11	[{'connected_gene': 'MXRA7', 'score': 9.15}, {'connected_gene': 'ST6GALNAC2', 'score': 6.62}, {'connected_gene': 'ST6GALNAC1', 'score': 0.37}, {'connected_gene': 'GC17M076570', 'score': 0.31}]
chr17	GH17I076612	76612759	76614258	0.77	[{'connected_gene': 'MXRA7', 'score': 19.24}, {'connected_gene': 'ST6GALNAC2', 'score': 8.18}, {'connected_gene': 'GC17M076570', 'score': 0.37}, {'connected_gene': 'ST6GALNAC1', 'score': 0.29}]
chr17	GH17I076258	76258181	76277769	2.79	[{'connected_gene': 'UBALD2', 'score': 562.94}, {'connected_gene': 'UNK', 'score': 111.75}, {'connected_gene': 'ENSG00000267342', 'score': 96.95}, {'connected_gene': 'SRSF2', 'score': 93.05}, {'connected_gene': 'TRIM65', 'score': 74.84}, {'connected_gene': 'ENSG00000266980', 'score': 60.77}, {'connected_gene': 'ENSG00000267546', 'score': 52.45}, {'connected_gene': 'METTL23', 'score': 38.79}, {'connected_gene': 'MFSD11', 'score': 37.06}, {'connected_gene': 'EXOC7', 'score': 31.22}, {'connected_gene': 'CDK3', 'score': 30.14}, {'connected_gene': 'RNF157', 'score': 29.63}, {'connected_gene': 'PRPSAP1', 'score': 24.01}, {'connected_gene': 'SAP30BP', 'score': 20.59}, {'connected_gene': 'QRICH2', 'score': 20.14}, {'connected_gene': 'TSEN54', 'score': 19.53}, {'connected_gene': 'MYO15B', 'score': 12.19}, {'connected_gene': 'CASKIN2', 'score': 12.13}, {'connected_gene': 'SNHG20', 'score': 11.89}, {'connected_gene': 'FOXJ1', 'score': 11.73}, {'connected_gene': 'SRP68', 'score': 10.45}, {'connected_gene': 'PRCD', 'score': 10.38}, {'connected_gene': 'ENSG00000267801', 'score': 10.36}, {'connected_gene': 'ENSG00000272386', 'score': 10.28}, {'connected_gene': 'SLC25A19', 'score': 10.05}, {'connected_gene': 'TRIM47', 'score': 9.85}, {'connected_gene': 'MGAT5B', 'score': 9.65}, {'connected_gene': 'ST6GALNAC1', 'score': 4.08}, {'connected_gene': 'SPHK1', 'score': 2.32}, {'connected_gene': 'JMJD6', 'score': 1.71}, {'connected_gene': 'H3F3B', 'score': 1.45}, {'connected_gene': 'RHBDF2', 'score': 1.28}, {'connected_gene': 'LOC105371896', 'score': 0.77}]
chr17	GH17I076604	76604939	76605088	0.38	[{'connected_gene': 'RNU6-227P', 'score': 11.9}, {'connected_gene': 'SNORD1B', 'score': 11.88}, {'connected_gene': 'SNHG16', 'score': 11.86}, {'connected_gene': 'CYGB', 'score': 11.46}, {'connected_gene': 'PRCD', 'score': 11.4}, {'connected_gene': 'UBE2O', 'score': 10.11}, {'connected_gene': 'AANAT', 'score': 10.11}, {'connected_gene': 'ST6GALNAC2', 'score': 8.82}, {'connected_gene': 'GC17M076570', 'score': 0.44}, {'connected_gene': 'ST6GALNAC1', 'score': 0.28}]
chr17	GH17I076597	76596619	76596768	0.88	[{'connected_gene': 'GC17M076570', 'score': 550.77}, {'connected_gene': 'ENSG00000267084', 'score': 550.77}, {'connected_gene': 'ST6GALNAC1', 'score': 0.25}]
chr17	GH17I076596	76596801	76599084	1.43	[{'connected_gene': 'GC17M076570', 'score': 550.77}, {'connected_gene': 'ST6GALNAC2', 'score': 12.28}, {'connected_gene': 'MXRA7', 'score': 6.73}, {'connected_gene': 'JMJD6', 'score': 6.16}, {'connected_gene': 'SPHK1', 'score': 5.38}, {'connected_gene': 'CDK3', 'score': 4.43}, {'connected_gene': 'RHBDF2', 'score': 4.38}, {'connected_gene': 'UBALD2', 'score': 1.26}, {'connected_gene': 'ST6GALNAC1', 'score': 0.25}]