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
ENST00000526615	[[43577985, 43578011], [43578449, 43578511], [43606109, 43606224], [43662501, 43662584], [43694540, 43694812]]	None
ENST00000532864	[[43600438, 43600521], [43606109, 43606224], [43662501, 43662584], [43772460, 43772507], [43775595, 43775671], [43819869, 43819977], [43836986, 43837051], [43837896, 43837941], [43852525, 43852560], [43859866, 43859948]]	None
ENST00000533358	[[43601044, 43601066], [43606109, 43606224], [43662501, 43662584], [43694540, 43694793]]	None
ENST00000529261	[[43665815, 43666005], [43666758, 43666879], [43694540, 43694562], [43694645, 43694689], [43772460, 43772507], [43775595, 43775671], [43819869, 43819977], [43836986, 43837051], [43837896, 43837941], [43852525, 43852555]]	None
ENST00000531185	[[43702258, 43702537], [43819869, 43819977], [43836986, 43837051], [43837896, 43837941], [43852525, 43852560], [43859866, 43859945]]	[[43702377, 43702537], [43819869, 43819977], [43836986, 43837051], [43837896, 43837941], [43852525, 43852560], [43859866, 43859945]]
ENST00000278353	[[43702258, 43702537], [43772460, 43772507], [43775595, 43775671], [43819869, 43819977], [43836986, 43837051], [43837896, 43837941], [43852525, 43852560], [43859866, 43859948], [43861548, 43861614], [43876264, 43876414], [43876693, 43878160]]	[[43702377, 43702537], [43772460, 43772507], [43775595, 43775671], [43819869, 43819977], [43836986, 43837051], [43837896, 43837941], [43852525, 43852560], [43859866, 43859948], [43861548, 43861614], [43876264, 43876414], [43876693, 43876798]]
ENST00000527213	[[43745588, 43745666], [43772460, 43772507], [43775595, 43775671], [43819869, 43819977], [43836986, 43837051], [43837896, 43837941], [43852525, 43852560], [43859866, 43859948], [43861548, 43861583]]	None
ENST00000532178	[[43775593, 43775671], [43819869, 43819977], [43827794, 43828011]]	None
ENST00000532989	[[43691835, 43692024], [43694540, 43694832]]	None
ENST00000527433	[[43702229, 43702354], [43772460, 43772507], [43775595, 43775671]]	None
ENST00000395700	[[43702330, 43702537], [43772460, 43772507], [43775595, 43775671], [43776422, 43777086]]	[[43702377, 43702537], [43772460, 43772507], [43775595, 43775671], [43776422, 43776436]]
ENST00000533090	[[43851612, 43852560], [43859866, 43859948], [43861548, 43861614], [43876264, 43876414], [43876693, 43877448]]	None
ENST00000533802	[[43855623, 43855674], [43859866, 43859948], [43861548, 43861614], [43876264, 43876414], [43876693, 43876855]]	None
ENST00000534053	[[43859498, 43859948], [43861548, 43861614], [43876264, 43876331]]	None
ENST00000525736	[[43873596, 43876414], [43876693, 43878167]]	None
NM_016142	[[43702142, 43702537], [43772460, 43772507], [43775595, 43775671], [43819869, 43819977], [43836986, 43837051], [43837896, 43837941], [43852525, 43852560], [43859866, 43859948], [43861548, 43861614], [43876264, 43876414], [43876693, 43878169]]	[[43702377, 43702537], [43772460, 43772507], [43775595, 43775671], [43819869, 43819977], [43836986, 43837051], [43837896, 43837941], [43852525, 43852560], [43859866, 43859948], [43861548, 43861614], [43876264, 43876414], [43876693, 43876798]]

Promoter

Chrom	Start	End	Description
chr11	43600370	43600415	CAGE_peak_10_at_HSD17B12_5end
chr11	43600753	43600760	CAGE_peak_14_at_HSD17B12_5end
chr11	43600779	43600793	CAGE_peak_12_at_HSD17B12_5end
chr11	43600804	43600812	CAGE_peak_13_at_HSD17B12_5end
chr11	43665772	43665797	CAGE_peak_4_at_HSD17B12_5end
chr11	43702151	43702162	CAGE_peak_5_at_HSD17B12_5end
chr11	43702236	43702299	CAGE_peak_1_at_HSD17B12_5end
chr11	43702302	43702318	CAGE_peak_3_at_HSD17B12_5end
chr11	43702322	43702362	CAGE_peak_2_at_HSD17B12_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr11	GH11I043311	43311331	43313746	2.05	[{'connected_gene': 'API5', 'score': 556.36}, {'connected_gene': 'HSD17B12', 'score': 4.59}, {'connected_gene': 'ENSG00000252652', 'score': 0.37}]
chr11	GH11I043712	43712084	43713343	0.31	[{'connected_gene': 'RPL23AP63', 'score': 0.44}, {'connected_gene': 'HSD17B12', 'score': 0.29}, {'connected_gene': 'ENSG00000283341', 'score': 0.12}]
chr11	GH11I043679	43679600	43682831	2	[{'connected_gene': 'HSD17B12', 'score': 570.11}, {'connected_gene': 'RPL23AP63', 'score': 0.28}, {'connected_gene': 'ENSG00000283341', 'score': 0.15}]
chr11	GH11I043686	43686291	43688199	0.77	[{'connected_gene': 'HSD17B12', 'score': 20.4}, {'connected_gene': 'MIR129-2', 'score': 9.93}, {'connected_gene': 'RPL23AP63', 'score': 0.29}, {'connected_gene': 'ENSG00000283341', 'score': 0.14}]
chr11	GH11I043694	43693211	43693340	0.46	[{'connected_gene': 'HSD17B12', 'score': 17.83}, {'connected_gene': 'MIR129-2', 'score': 10.38}, {'connected_gene': 'RPL23AP63', 'score': 0.31}, {'connected_gene': 'ENSG00000283341', 'score': 0.14}]
chr11	GH11I043643	43643434	43645487	1.55	[{'connected_gene': 'HSD17B12', 'score': 26.53}, {'connected_gene': 'MIR129-2', 'score': 10.96}, {'connected_gene': 'ALKBH3', 'score': 9.84}, {'connected_gene': 'LOC105376644', 'score': 9.84}, {'connected_gene': 'GC11P043610', 'score': 0.22}, {'connected_gene': 'ENSG00000283341', 'score': 0.2}, {'connected_gene': 'ENSG00000283217', 'score': 0.17}, {'connected_gene': 'LOC101928704', 'score': 0.17}]
chr11	GH11I043830	43830293	43832191	1	[{'connected_gene': 'HSD17B12', 'score': 27.97}, {'connected_gene': 'MIR129-2', 'score': 10.34}, {'connected_gene': 'ALKBH3-AS1', 'score': 9.88}, {'connected_gene': 'ENSG00000254409', 'score': 9.88}, {'connected_gene': 'ENSG00000283375', 'score': 0.31}, {'connected_gene': 'LOC105376644', 'score': 0.25}, {'connected_gene': 'PIR48162', 'score': 0.15}, {'connected_gene': 'ENSG00000283341', 'score': 0.07}]
chr11	GH11I043787	43787259	43791312	0.82	[{'connected_gene': 'HSD17B12', 'score': 27.4}, {'connected_gene': 'ALKBH3', 'score': 10.13}, {'connected_gene': 'LOC105376644', 'score': 10.13}, {'connected_gene': 'MIR129-2', 'score': 9.9}, {'connected_gene': 'PIR48162', 'score': 0.22}, {'connected_gene': 'ENSG00000283375', 'score': 0.2}, {'connected_gene': 'ENSG00000283341', 'score': 0.08}]
chr11	GH11I043817	43817570	43820173	0.49	[{'connected_gene': 'HSD17B12', 'score': 97.0}, {'connected_gene': 'ALKBH3', 'score': 11.05}, {'connected_gene': 'LOC105376644', 'score': 11.05}, {'connected_gene': 'MIR670', 'score': 10.37}, {'connected_gene': 'MIR670HG', 'score': 10.37}, {'connected_gene': 'MIR129-2', 'score': 9.79}, {'connected_gene': 'ENSG00000283375', 'score': 0.28}, {'connected_gene': 'PIR48162', 'score': 0.18}, {'connected_gene': 'ENSG00000283341', 'score': 0.07}]
chr11	GH11I043835	43835132	43835496	0.31	[{'connected_gene': 'HSD17B12', 'score': 10.4}, {'connected_gene': 'ENSG00000283375', 'score': 0.34}, {'connected_gene': 'LOC105376644', 'score': 0.25}, {'connected_gene': 'PIR48162', 'score': 0.15}, {'connected_gene': 'ENSG00000283341', 'score': 0.07}]
chr11	GH11I043833	43833167	43834095	0.74	[{'connected_gene': 'HSD17B12', 'score': 27.11}, {'connected_gene': 'ALKBH3-AS1', 'score': 9.88}, {'connected_gene': 'MIR129-2', 'score': 9.61}, {'connected_gene': 'ENSG00000283375', 'score': 0.34}, {'connected_gene': 'LOC105376644', 'score': 0.25}, {'connected_gene': 'PIR48162', 'score': 0.15}, {'connected_gene': 'ENSG00000283341', 'score': 0.07}]
chr11	GH11I043576	43576331	43577067	0.9	[{'connected_gene': 'HSD17B12', 'score': 5.96}, {'connected_gene': 'ENSG00000283341', 'score': 0.77}, {'connected_gene': 'MIR670HG', 'score': 0.44}, {'connected_gene': 'ENSG00000283217', 'score': 0.34}, {'connected_gene': 'LOC101928704', 'score': 0.34}]
chr11	GH11I043738	43738489	43740251	1.27	[{'connected_gene': 'HSD17B12', 'score': 42.55}, {'connected_gene': 'PIR48162', 'score': 0.44}, {'connected_gene': 'ENSG00000283375', 'score': 0.13}, {'connected_gene': 'ENSG00000283341', 'score': 0.1}]
chr11	GH11I043746	43746571	43748311	1.1	[{'connected_gene': 'HSD17B12', 'score': 87.1}, {'connected_gene': 'PIR48162', 'score': 0.39}, {'connected_gene': 'ENSG00000283375', 'score': 0.14}, {'connected_gene': 'ENSG00000283341', 'score': 0.1}]
chr11	GH11I043691	43691401	43691600	0.2	[{'connected_gene': 'MIR129-2', 'score': 10.38}, {'connected_gene': 'HSD17B12', 'score': 0.39}, {'connected_gene': 'RPL23AP63', 'score': 0.31}, {'connected_gene': 'ENSG00000283341', 'score': 0.14}]
chr11	GH11I043693	43693891	43694000	0.85	[{'connected_gene': 'MIR129-2', 'score': 10.38}, {'connected_gene': 'HSD17B12', 'score': 0.39}, {'connected_gene': 'RPL23AP63', 'score': 0.34}, {'connected_gene': 'ENSG00000283341', 'score': 0.13}]
chr11	GH11I043580	43579551	43579700	0.69	[{'connected_gene': 'MIR129-2', 'score': 550.77}, {'connected_gene': 'GC11P043603', 'score': 550.77}, {'connected_gene': 'GC11P043607', 'score': 550.77}, {'connected_gene': 'GC11P043605', 'score': 550.77}, {'connected_gene': 'ENSG00000283341', 'score': 550.77}, {'connected_gene': 'HSD17B12', 'score': 7.3}, {'connected_gene': 'ENSG00000283217', 'score': 0.34}, {'connected_gene': 'LOC101928704', 'score': 0.34}]
chr11	GH11I043852	43852151	43852320	0.59	[{'connected_gene': 'ALKBH3', 'score': 11.61}, {'connected_gene': 'LOC105376644', 'score': 11.61}, {'connected_gene': 'HSD17B12', 'score': 11.06}, {'connected_gene': 'MIR129-2', 'score': 11.02}, {'connected_gene': 'ENSG00000283375', 'score': 0.77}, {'connected_gene': 'PIR48162', 'score': 0.13}]
chr11	GH11I043868	43868376	43869919	1.19	[{'connected_gene': 'ALKBH3-AS1', 'score': 10.65}, {'connected_gene': 'C11orf96', 'score': 10.64}, {'connected_gene': 'HSD17B12', 'score': 9.36}, {'connected_gene': 'ALKBH3', 'score': 9.34}, {'connected_gene': 'MIR129-2', 'score': 9.34}, {'connected_gene': 'ENSG00000283375', 'score': 0.39}, {'connected_gene': 'LOC105376644', 'score': 0.39}]
chr11	GH11I043890	43890311	43890500	0.64	[{'connected_gene': 'ALKBH3-AS1', 'score': 10.99}, {'connected_gene': 'ENSG00000254409', 'score': 10.99}, {'connected_gene': 'EXT2', 'score': 10.12}, {'connected_gene': 'HSD17B12', 'score': 9.55}, {'connected_gene': 'MIR129-2', 'score': 9.53}, {'connected_gene': 'ALKBH3', 'score': 0.44}, {'connected_gene': 'SEC14L1P1', 'score': 0.44}]
chr11	GH11I043735	43735583	43737818	0.74	[{'connected_gene': 'PIR48162', 'score': 0.77}, {'connected_gene': 'HSD17B12', 'score': 0.22}, {'connected_gene': 'ENSG00000283375', 'score': 0.13}, {'connected_gene': 'ENSG00000283341', 'score': 0.1}]
chr11	GH11I043757	43757774	43757854	0.23	[{'connected_gene': 'PIR48162', 'score': 0.34}, {'connected_gene': 'HSD17B12', 'score': 0.18}, {'connected_gene': 'ENSG00000283375', 'score': 0.15}, {'connected_gene': 'ENSG00000283341', 'score': 0.1}]
chr11	GH11I043546	43546638	43548588	1.17	[{'connected_gene': 'GC11P043551', 'score': 550.77}, {'connected_gene': 'MIR129-2', 'score': 10.87}, {'connected_gene': 'HSD17B12', 'score': 10.69}, {'connected_gene': 'C11orf96', 'score': 1.76}, {'connected_gene': 'CTBP2P6', 'score': 0.31}]