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
ENST00000299341	[[53046125, 53046176], [53062974, 53063052], [53063502, 53063627], [53068185, 53068318], [53076705, 53076812], [53076986, 53077203], [53078168, 53078244], [53084866, 53084958], [53108528, 53108625], [53111528, 53111620], [53120596, 53120686], [53120972, 53120990]]	[[53076756, 53076812], [53076986, 53077203], [53078168, 53078244], [53084866, 53084958], [53108528, 53108625], [53111528, 53111620], [53120596, 53120686], [53120972, 53120990]]
ENST00000376352	[[53046125, 53046176], [53062974, 53063052], [53063502, 53063627], [53068185, 53068318], [53076705, 53076812], [53076992, 53077203], [53078168, 53078244], [53084866, 53084958], [53108528, 53108625], [53111528, 53111620], [53120596, 53120686], [53124449, 53124515], [53150260, 53150437], [53155438, 53155555], [53156046, 53156096], [53158410, 53158544], [53218670, 53218728], [53237157, 53241646]]	[[53063580, 53063627], [53068185, 53068318], [53076705, 53076812], [53076992, 53077203], [53078168, 53078244], [53084866, 53084958], [53108528, 53108625], [53111528, 53111620], [53120596, 53120686], [53124449, 53124515], [53150260, 53150437], [53155438, 53155555], [53156046, 53156096], [53158410, 53158544], [53218670, 53218728], [53237157, 53237272]]
ENST00000405898	[[53046135, 53046176], [53063502, 53063627], [53068185, 53068318], [53076705, 53076812], [53076992, 53077203], [53078168, 53078244], [53084866, 53084958], [53108528, 53108625], [53111528, 53111620], [53120596, 53120686], [53120972, 53122137]]	[[53063580, 53063627], [53068185, 53068318], [53076705, 53076812], [53076992, 53077203], [53078168, 53078244], [53084866, 53084958], [53108528, 53108625], [53111528, 53111620], [53120596, 53120686], [53120972, 53120990]]
ENST00000434978	[[53046136, 53046176], [53062974, 53063052], [53063502, 53063627], [53068185, 53068318], [53076705, 53076812], [53076992, 53077203], [53078168, 53078244], [53084866, 53084958], [53108528, 53108625], [53111528, 53111620], [53120596, 53120686], [53150260, 53150437], [53155438, 53155555], [53156046, 53156096], [53158410, 53158544], [53218670, 53218728], [53237157, 53238287]]	[[53063580, 53063627], [53068185, 53068318], [53076705, 53076812], [53076992, 53077203], [53078168, 53078244], [53084866, 53084958], [53108528, 53108625], [53111528, 53111620], [53120596, 53120686], [53150260, 53150437], [53155438, 53155555], [53156046, 53156096], [53158410, 53158544], [53218670, 53218728], [53237157, 53237272]]
ENST00000398391	[[53046155, 53046176], [53062974, 53063052], [53063502, 53063627], [53076705, 53076812], [53076986, 53077203], [53078168, 53078244], [53084866, 53084958], [53108528, 53108625], [53111528, 53111620], [53120596, 53120686], [53120972, 53122137]]	[[53076756, 53076812], [53076986, 53077203], [53078168, 53078244], [53084866, 53084958], [53108528, 53108625], [53111528, 53111620], [53120596, 53120686], [53120972, 53120990]]
ENST00000463234	[[53077176, 53077203], [53078168, 53078244], [53108528, 53108625], [53111528, 53111620], [53120596, 53120727]]	[[53077176, 53077203], [53078168, 53078244], [53108528, 53108625], [53111528, 53111574]]
ENST00000461444	[[53046087, 53046176], [53062974, 53063052], [53063502, 53063627], [53068185, 53068349]]	None
ENST00000464340	[[53046152, 53046176], [53062974, 53063052], [53063502, 53063627], [53068185, 53068318], [53068399, 53069213]]	None
ENST00000468837	[[53108167, 53108625], [53111528, 53111620], [53120596, 53120736]]	None
NM_178509	[[53046125, 53046176], [53062974, 53063052], [53063502, 53063627], [53068185, 53068318], [53076705, 53076812], [53076992, 53077203], [53078168, 53078244], [53084866, 53084958], [53108528, 53108625], [53111528, 53111620], [53120596, 53120686], [53124449, 53124515], [53150260, 53150437], [53155438, 53155555], [53156046, 53156096], [53158410, 53158544], [53218670, 53218728], [53237157, 53241449]]	[[53063580, 53063627], [53068185, 53068318], [53076705, 53076812], [53076992, 53077203], [53078168, 53078244], [53084866, 53084958], [53108528, 53108625], [53111528, 53111620], [53120596, 53120686], [53124449, 53124515], [53150260, 53150437], [53155438, 53155555], [53156046, 53156096], [53158410, 53158544], [53218670, 53218728], [53237157, 53237272]]

Promoter

Chrom	Start	End	Description
chr17	53046070	53046095	CAGE_peak_2_at_STXBP4_5end
chr17	53046096	53046157	CAGE_peak_1_at_STXBP4_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I055350	55350340	55351371	0.7	[{'connected_gene': 'HLF', 'score': 11.07}, {'connected_gene': 'STXBP4', 'score': 10.45}, {'connected_gene': 'MMD', 'score': 10.34}, {'connected_gene': 'ENSG00000262079', 'score': 0.34}, {'connected_gene': 'GC17P055380', 'score': 0.29}]
chr17	GH17I055197	55197287	55199780	0.66	[{'connected_gene': 'HLF', 'score': 10.99}, {'connected_gene': 'STXBP4', 'score': 4.95}, {'connected_gene': 'GC17P055167', 'score': 0.29}, {'connected_gene': 'GC17M055237', 'score': 0.26}]
chr17	GH17I055281	55281794	55288568	2.08	[{'connected_gene': 'HLF', 'score': 22.31}, {'connected_gene': 'ENSG00000263096', 'score': 8.69}, {'connected_gene': 'MMD', 'score': 3.28}, {'connected_gene': 'COX11', 'score': 3.05}, {'connected_gene': 'STXBP4', 'score': 1.79}, {'connected_gene': 'GC17P055297', 'score': 0.39}]
chr17	GH17I055432	55432266	55435704	1.41	[{'connected_gene': 'STXBP4', 'score': 13.69}, {'connected_gene': 'MMD', 'score': 0.39}, {'connected_gene': 'LOC101927367', 'score': 0.34}]
chr17	GH17I055407	55407359	55409043	1.14	[{'connected_gene': 'STXBP4', 'score': 21.16}, {'connected_gene': 'MMD', 'score': 6.73}, {'connected_gene': 'GC17P055410', 'score': 0.77}, {'connected_gene': 'GC17P055387', 'score': 0.34}]
chr17	GH17I054906	54906387	54908316	0.57	[{'connected_gene': 'STXBP4', 'score': 17.92}, {'connected_gene': 'COX11', 'score': 8.89}, {'connected_gene': 'TOM1L1', 'score': 0.44}, {'connected_gene': 'GC17P054919', 'score': 0.39}]
chr17	GH17I054891	54891340	54891429	0.67	[{'connected_gene': 'STXBP4', 'score': 4.94}, {'connected_gene': 'TOM1L1', 'score': 0.44}, {'connected_gene': 'RN7SKP14', 'score': 0.13}]
chr17	GH17I055086	55086600	55087001	1.03	[{'connected_gene': 'STXBP4', 'score': 13.97}, {'connected_gene': 'GC17P055089', 'score': 0.77}, {'connected_gene': 'GC17M055074', 'score': 0.39}]
chr17	GH17I055094	55094561	55094680	0.22	[{'connected_gene': 'STXBP4', 'score': 4.89}, {'connected_gene': 'GC17P055089', 'score': 0.44}, {'connected_gene': 'GC17M055100', 'score': 0.39}]
chr17	GH17I055454	55454493	55455837	1.14	[{'connected_gene': 'MMD', 'score': 11.48}, {'connected_gene': 'STXBP4', 'score': 10.56}, {'connected_gene': 'LOC101927367', 'score': 0.77}, {'connected_gene': 'SMIM36', 'score': 0.22}]
chr17	GH17I054932	54932034	54935970	0.2	[{'connected_gene': 'COX11', 'score': 34.82}, {'connected_gene': 'STXBP4', 'score': 28.23}, {'connected_gene': 'TOM1L1', 'score': 11.32}, {'connected_gene': 'GC17P054919', 'score': 0.39}, {'connected_gene': 'ENSG00000279059', 'score': 0.34}]
chr17	GH17I054947	54947171	54950880	0.73	[{'connected_gene': 'COX11', 'score': 29.48}, {'connected_gene': 'STXBP4', 'score': 16.19}, {'connected_gene': 'ENSG00000279059', 'score': 0.44}, {'connected_gene': 'GC17P054919', 'score': 0.31}, {'connected_gene': 'TOM1L1', 'score': 0.25}]
chr17	GH17I054944	54944100	54946295	0.6	[{'connected_gene': 'COX11', 'score': 29.45}, {'connected_gene': 'STXBP4', 'score': 16.08}, {'connected_gene': 'ENSG00000279059', 'score': 0.39}, {'connected_gene': 'GC17P054919', 'score': 0.31}, {'connected_gene': 'TOM1L1', 'score': 0.25}]
chr17	GH17I054967	54967059	54971776	2.29	[{'connected_gene': 'COX11', 'score': 575.34}, {'connected_gene': 'STXBP4', 'score': 574.6}, {'connected_gene': 'GC17P055069', 'score': 0.15}]
chr17	GH17I055116	55116194	55116897	0.46	[{'connected_gene': 'COX11', 'score': 16.12}, {'connected_gene': 'PIR53822', 'score': 0.77}, {'connected_gene': 'PIR42166', 'score': 0.77}, {'connected_gene': 'STXBP4', 'score': 0.11}]
chr17	GH17I054898	54898734	54903947	2.24	[{'connected_gene': 'TOM1L1', 'score': 550.77}, {'connected_gene': 'STXBP4', 'score': 15.64}, {'connected_gene': 'COX11', 'score': 10.12}, {'connected_gene': 'GC17P054919', 'score': 0.37}]
chr17	GH17I055161	55161964	55162841	0.52	[{'connected_gene': 'GC17P055161', 'score': 550.77}, {'connected_gene': 'GC17M055189', 'score': 550.77}, {'connected_gene': 'GC17P055167', 'score': 0.44}, {'connected_gene': 'STXBP4', 'score': 0.08}]
chr17	GH17I055172	55172760	55172909	0.2	[{'connected_gene': 'GC17P055167', 'score': 0.44}, {'connected_gene': 'GC17M055237', 'score': 0.2}, {'connected_gene': 'STXBP4', 'score': 0.08}]
chr17	GH17I055067	55067553	55070545	0.89	[{'connected_gene': 'GC17P055069', 'score': 550.77}, {'connected_gene': 'COX11', 'score': 15.04}, {'connected_gene': 'HLF', 'score': 11.54}, {'connected_gene': 'STXBP4', 'score': 0.15}]
chr17	GH17I055089	55089758	55091208	0.79	[{'connected_gene': 'GC17P055089', 'score': 550.77}, {'connected_gene': 'COX11', 'score': 18.13}, {'connected_gene': 'STXBP4', 'score': 11.48}, {'connected_gene': 'GC17M055100', 'score': 0.39}]