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
ENST00000273691	[[121706169, 121707255], [121711996, 121712817], [121720154, 121720301], [121720591, 121720711], [121724090, 121724240], [121725837, 121726008], [121740866, 121741030]]	[[121707213, 121707255], [121711996, 121712817], [121720154, 121720301], [121720591, 121720711], [121724090, 121724240], [121725837, 121726008], [121740866, 121740924]]
ENST00000344209	[[121706755, 121707255], [121711996, 121712817], [121713028, 121713160], [121720154, 121720301], [121720591, 121720711], [121724090, 121724240], [121725837, 121726008], [121740866, 121741051]]	[[121707213, 121707255], [121711996, 121712817], [121713028, 121713160], [121720154, 121720301], [121720591, 121720711], [121724090, 121724240], [121725837, 121726008], [121740866, 121740924]]
ENST00000393631	[[121707176, 121707255], [121711996, 121712817], [121713028, 121713160], [121724090, 121724240], [121725837, 121726008], [121740866, 121740969]]	[[121707213, 121707255], [121711996, 121712817], [121713028, 121713160], [121724090, 121724240], [121725837, 121726008], [121740866, 121740924]]
ENST00000462014	[[121707192, 121707255], [121711996, 121712817], [121720154, 121720301], [121720591, 121720711], [121724090, 121724240], [121725837, 121726148]]	[[121707213, 121707255], [121711996, 121712817], [121720154, 121720301], [121720591, 121720711], [121724090, 121724240], [121725837, 121726102]]
ENST00000460554	[[121711995, 121712798], [121713028, 121713160], [121720154, 121720301], [121720591, 121720711], [121724090, 121724240], [121725837, 121726008], [121740866, 121741045]]	None
NM_001199799	[[121706169, 121707255], [121711996, 121712817], [121713028, 121713160], [121720154, 121720301], [121720591, 121720711], [121724090, 121724240], [121725837, 121726008], [121740866, 121741127]]	[[121707213, 121707255], [121711996, 121712817], [121713028, 121713160], [121720154, 121720301], [121720591, 121720711], [121724090, 121724240], [121725837, 121726008], [121740866, 121740924]]
NM_175924	[[121706169, 121707255], [121711996, 121712817], [121720154, 121720301], [121720591, 121720711], [121724090, 121724240], [121725837, 121726008], [121740866, 121741127]]	[[121707213, 121707255], [121711996, 121712817], [121720154, 121720301], [121720591, 121720711], [121724090, 121724240], [121725837, 121726008], [121740866, 121740924]]
NM_001199800	[[121706169, 121707255], [121711996, 121712817], [121713028, 121713160], [121724090, 121724240], [121725837, 121726008], [121740866, 121741127]]	[[121707213, 121707255], [121711996, 121712817], [121713028, 121713160], [121724090, 121724240], [121725837, 121726008], [121740866, 121740924]]

Promoter

Chrom	Start	End	Description
chr3	121741065	121741106	CAGE_peak_1_at_ILDR1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr3	GH03I122002	122002601	122005524	1.31	[{'connected_gene': 'IQCB1', 'score': 20.59}, {'connected_gene': 'SLC15A2', 'score': 14.73}, {'connected_gene': 'CD86', 'score': 13.94}, {'connected_gene': 'ENSG00000202388', 'score': 13.28}, {'connected_gene': 'ILDR1', 'score': 13.16}, {'connected_gene': 'CSTA', 'score': 1.54}, {'connected_gene': 'EAF2', 'score': 1.53}, {'connected_gene': 'HCLS1', 'score': 1.53}, {'connected_gene': 'LOC101927010', 'score': 0.37}, {'connected_gene': 'GC03M121324', 'score': 0.28}]
chr3	GH03I121994	121994028	121996283	1.21	[{'connected_gene': 'IQCB1', 'score': 21.22}, {'connected_gene': 'SLC15A2', 'score': 17.81}, {'connected_gene': 'EAF2', 'score': 12.82}, {'connected_gene': 'CD86', 'score': 10.88}, {'connected_gene': 'HCLS1', 'score': 1.43}, {'connected_gene': 'CSTA', 'score': 1.32}, {'connected_gene': 'LOC101927010', 'score': 0.44}, {'connected_gene': 'ENSG00000202388', 'score': 0.29}, {'connected_gene': 'GC03M121324', 'score': 0.26}, {'connected_gene': 'ILDR1', 'score': 0.2}]
chr3	GH03I121992	121992308	121993396	0.54	[{'connected_gene': 'IQCB1', 'score': 22.7}, {'connected_gene': 'EAF2', 'score': 10.47}, {'connected_gene': 'LOC101927010', 'score': 0.77}, {'connected_gene': 'ENSG00000202388', 'score': 0.29}, {'connected_gene': 'GC03M121324', 'score': 0.25}, {'connected_gene': 'ILDR1', 'score': 0.2}]
chr3	GH03I122053	122053081	122053250	0.61	[{'connected_gene': 'CD86', 'score': 8.47}, {'connected_gene': 'HCLS1', 'score': 1.79}, {'connected_gene': 'EAF2', 'score': 1.6}, {'connected_gene': 'CSTA', 'score': 1.3}, {'connected_gene': 'ILDR1', 'score': 0.44}, {'connected_gene': 'GC03M121324', 'score': 0.39}]
chr3	GH03I122054	122054794	122056339	1.9	[{'connected_gene': 'CD86', 'score': 550.77}, {'connected_gene': 'ENSG00000202388', 'score': 12.24}, {'connected_gene': 'ILDR1', 'score': 0.77}]
chr3	GH03I122101	122101492	122102043	1.44	[{'connected_gene': 'CD86', 'score': 4.66}, {'connected_gene': 'DTX3L', 'score': 2.2}, {'connected_gene': 'PARP9', 'score': 1.98}, {'connected_gene': 'EAF2', 'score': 1.83}, {'connected_gene': 'HCLS1', 'score': 1.6}, {'connected_gene': 'ILDR1', 'score': 0.26}, {'connected_gene': 'CASR', 'score': 0.18}]
chr3	GH03I122074	122073100	122073207	0.56	[{'connected_gene': 'CD86', 'score': 8.6}, {'connected_gene': 'DTX3L', 'score': 7.71}, {'connected_gene': 'PARP9', 'score': 7.39}, {'connected_gene': 'HCLS1', 'score': 1.73}, {'connected_gene': 'EAF2', 'score': 1.67}, {'connected_gene': 'ILDR1', 'score': 0.39}, {'connected_gene': 'CASR', 'score': 0.14}]
chr3	GH03I122073	122073889	122080970	2.01	[{'connected_gene': 'CD86', 'score': 562.73}, {'connected_gene': 'ENSG00000202388', 'score': 12.36}, {'connected_gene': 'DTX3L', 'score': 10.76}, {'connected_gene': 'PARP9', 'score': 10.42}, {'connected_gene': 'CCDC58', 'score': 9.91}, {'connected_gene': 'FAM162A', 'score': 9.91}, {'connected_gene': 'IQCB1', 'score': 5.91}, {'connected_gene': 'EAF2', 'score': 1.77}, {'connected_gene': 'CSTA', 'score': 1.68}, {'connected_gene': 'HCLS1', 'score': 1.65}, {'connected_gene': 'ILDR1', 'score': 0.37}, {'connected_gene': 'CASR', 'score': 0.14}]
chr3	GH03I122012	122012861	122013130	0.49	[{'connected_gene': 'CD86', 'score': 8.57}, {'connected_gene': 'ENSG00000202388', 'score': 0.39}, {'connected_gene': 'LOC101927010', 'score': 0.34}, {'connected_gene': 'GC03M121324', 'score': 0.31}, {'connected_gene': 'ILDR1', 'score': 0.25}]
chr3	GH03I122065	122065768	122068616	1.32	[{'connected_gene': 'CASR', 'score': 10.49}, {'connected_gene': 'CD86', 'score': 3.27}, {'connected_gene': 'EAF2', 'score': 2.45}, {'connected_gene': 'HCLS1', 'score': 1.85}, {'connected_gene': 'PARP9', 'score': 1.67}, {'connected_gene': 'DTX3L', 'score': 1.5}, {'connected_gene': 'ILDR1', 'score': 0.44}]
chr3	GH03I122105	122105714	122105863	0.51	[{'connected_gene': 'CASR', 'score': 10.73}, {'connected_gene': 'POLQ', 'score': 10.33}, {'connected_gene': 'ILDR1', 'score': 0.25}, {'connected_gene': 'CD86', 'score': 0.23}]
chr3	GH03I122123	122123627	122125125	0.31	[{'connected_gene': 'CASR', 'score': 10.69}, {'connected_gene': 'ILDR1', 'score': 0.21}]
chr3	GH03I122099	122099167	122101418	1.1	[{'connected_gene': 'PARP9', 'score': 9.36}, {'connected_gene': 'DTX3L', 'score': 9.25}, {'connected_gene': 'CD86', 'score': 7.24}, {'connected_gene': 'HCLS1', 'score': 2.8}, {'connected_gene': 'CSTA', 'score': 2.12}, {'connected_gene': 'EAF2', 'score': 1.97}, {'connected_gene': 'ILDR1', 'score': 0.28}, {'connected_gene': 'CASR', 'score': 0.18}]
chr3	GH03I121997	121997402	121999599	1.28	[{'connected_gene': 'SLC15A2', 'score': 13.72}, {'connected_gene': 'CD86', 'score': 13.51}, {'connected_gene': 'EAF2', 'score': 11.77}, {'connected_gene': 'ENSG00000202388', 'score': 11.74}, {'connected_gene': 'ILDR1', 'score': 11.64}, {'connected_gene': 'IQCB1', 'score': 10.46}, {'connected_gene': 'CSTA', 'score': 1.56}, {'connected_gene': 'HCLS1', 'score': 1.45}, {'connected_gene': 'LOC101927010', 'score': 0.39}, {'connected_gene': 'GC03M121324', 'score': 0.26}]
chr3	GH03I121919	121919202	121919399	0.54	[{'connected_gene': 'SLC15A2', 'score': 18.23}, {'connected_gene': 'CSTA', 'score': 2.72}, {'connected_gene': 'ILDR1', 'score': 1.78}, {'connected_gene': 'GC03P121966', 'score': 0.25}, {'connected_gene': 'GC03M121324', 'score': 0.13}]
chr3	GH03I122009	122009675	122011971	0.49	[{'connected_gene': 'ILDR1', 'score': 13.18}, {'connected_gene': 'IQCB1', 'score': 10.87}, {'connected_gene': 'SLC15A2', 'score': 9.78}, {'connected_gene': 'ENSG00000202388', 'score': 0.39}, {'connected_gene': 'LOC101927010', 'score': 0.34}, {'connected_gene': 'GC03M121324', 'score': 0.31}]
chr3	GH03I122056	122056401	122060690	1.27	[{'connected_gene': 'ILDR1', 'score': 550.77}, {'connected_gene': 'ENSG00000202388', 'score': 12.34}, {'connected_gene': 'CD86', 'score': 11.87}, {'connected_gene': 'IQCB1', 'score': 6.71}, {'connected_gene': 'HCLS1', 'score': 2.12}, {'connected_gene': 'EAF2', 'score': 1.7}]
chr3	GH03I122093	122093593	122095577	0.69	[{'connected_gene': 'ILDR1', 'score': 12.08}, {'connected_gene': 'ENSG00000202388', 'score': 11.99}, {'connected_gene': 'CD86', 'score': 0.28}, {'connected_gene': 'CASR', 'score': 0.17}]
chr3	GH03I122091	122091234	122093092	1.05	[{'connected_gene': 'ILDR1', 'score': 12.08}, {'connected_gene': 'ENSG00000202388', 'score': 11.99}, {'connected_gene': 'CD86', 'score': 6.76}, {'connected_gene': 'CASR', 'score': 0.16}]
chr3	GH03I122088	122088601	122089000	0.4	[{'connected_gene': 'ILDR1', 'score': 0.31}, {'connected_gene': 'CD86', 'score': 0.29}, {'connected_gene': 'CASR', 'score': 0.16}]
chr3	GH03I122021	122021244	122022843	1.81	[{'connected_gene': 'ILDR1', 'score': 550.28}, {'connected_gene': 'GOLGB1', 'score': 28.76}, {'connected_gene': 'IQCB1', 'score': 28.57}, {'connected_gene': 'LOC102723582', 'score': 20.04}, {'connected_gene': 'RPL7AP11', 'score': 9.74}, {'connected_gene': 'ENSG00000202388', 'score': 0.77}, {'connected_gene': 'GC03M121324', 'score': 0.37}, {'connected_gene': 'LOC101927010', 'score': 0.29}]
chr3	GH03I122082	122081922	122083176	0.59	[{'connected_gene': 'ILDR1', 'score': 11.46}, {'connected_gene': 'ENSG00000202388', 'score': 11.34}, {'connected_gene': 'CSTA', 'score': 10.63}, {'connected_gene': 'CCDC58', 'score': 9.82}, {'connected_gene': 'FAM162A', 'score': 9.82}, {'connected_gene': 'IQCB1', 'score': 6.35}, {'connected_gene': 'CD86', 'score': 0.31}, {'connected_gene': 'CASR', 'score': 0.15}]
chr3	GH03I122081	122081622	122081833	0.98	[{'connected_gene': 'ILDR1', 'score': 11.46}, {'connected_gene': 'ENSG00000202388', 'score': 11.34}, {'connected_gene': 'CSTA', 'score': 10.63}, {'connected_gene': 'CCDC58', 'score': 9.82}, {'connected_gene': 'FAM162A', 'score': 9.82}, {'connected_gene': 'CD86', 'score': 8.63}, {'connected_gene': 'EAF2', 'score': 2.54}, {'connected_gene': 'CASR', 'score': 0.15}]
chr3	GH03I122030	122030173	122031013	0.86	[{'connected_gene': 'GOLGB1', 'score': 11.36}, {'connected_gene': 'CD86', 'score': 5.87}, {'connected_gene': 'EAF2', 'score': 1.51}, {'connected_gene': 'HCLS1', 'score': 1.34}, {'connected_gene': 'GC03M121324', 'score': 0.44}, {'connected_gene': 'ENSG00000202388', 'score': 0.44}, {'connected_gene': 'ILDR1', 'score': 0.31}]
chr3	GH03I122111	122111043	122112274	0.46	[{'connected_gene': 'CSTA', 'score': 11.15}, {'connected_gene': 'CASR', 'score': 11.01}, {'connected_gene': 'POLQ', 'score': 10.32}, {'connected_gene': 'RPL7AP11', 'score': 3.82}, {'connected_gene': 'ILDR1', 'score': 0.23}, {'connected_gene': 'CD86', 'score': 0.22}]
chr3	GH03I122063	122063514	122064859	1.04	[{'connected_gene': 'ENSG00000202388', 'score': 11.81}, {'connected_gene': 'CD86', 'score': 10.77}, {'connected_gene': 'IQCB1', 'score': 6.46}, {'connected_gene': 'DTX3L', 'score': 4.13}, {'connected_gene': 'PARP9', 'score': 4.06}, {'connected_gene': 'HCLS1', 'score': 2.28}, {'connected_gene': 'EAF2', 'score': 2.15}, {'connected_gene': 'CSTA', 'score': 1.7}, {'connected_gene': 'ILDR1', 'score': 0.77}, {'connected_gene': 'CASR', 'score': 0.13}]