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
ENST00000586725	[[33161080, 33161267], [33207397, 33207448], [33234523, 33234557]]	None
ENST00000591924	[[33161703, 33161826], [33234523, 33234765], [33243591, 33243768]]	[[33234626, 33234765], [33243591, 33243768]]
ENST00000589189	[[33207392, 33207448], [33234523, 33234765], [33243591, 33243766], [33257554, 33257721], [33263354, 33263562], [33266979, 33267150], [33269136, 33269254], [33270975, 33271189], [33282768, 33282959], [33283472, 33283607], [33289587, 33290256]]	[[33234626, 33234765], [33243591, 33243766], [33257554, 33257721], [33263354, 33263562], [33266979, 33267150], [33269136, 33269254], [33270975, 33271161]]
ENST00000269195	[[33234523, 33234765], [33243591, 33243766], [33257554, 33257721], [33263354, 33263562], [33266979, 33267150], [33269136, 33269254], [33270975, 33271156], [33272144, 33272284], [33282860, 33282959], [33283472, 33283607], [33289587, 33291798]]	[[33234626, 33234765], [33243591, 33243766], [33257554, 33257721], [33263354, 33263562], [33266979, 33267150], [33269136, 33269254], [33270975, 33271156], [33272144, 33272284], [33282860, 33282959], [33283472, 33283607], [33289587, 33289734]]
ENST00000591081	[[33234535, 33234765], [33243591, 33244481]]	[[33234626, 33234765], [33243591, 33243770]]
ENST00000590654	[[33234619, 33234765], [33239821, 33239894], [33243591, 33243766], [33257554, 33257721], [33263354, 33263562], [33266979, 33267150], [33269136, 33269254], [33270975, 33271156], [33272144, 33272284], [33282860, 33282959], [33283472, 33283607], [33289587, 33289744]]	[[33234626, 33234765], [33239821, 33239835]]
ENST00000537549	[[33234619, 33234765], [33239821, 33239894], [33243591, 33243766], [33257554, 33257721], [33263354, 33263562], [33266979, 33267150], [33269136, 33269254], [33270975, 33271156], [33272144, 33272284], [33282860, 33282959], [33283472, 33283607], [33289587, 33289744]]	[[33243632, 33243766], [33257554, 33257721], [33263354, 33263562], [33266979, 33267150], [33269136, 33269254], [33270975, 33271156], [33272144, 33272284], [33282860, 33282959], [33283472, 33283607], [33289587, 33289734]]
NM_020474	[[33234532, 33234765], [33243591, 33243766], [33257554, 33257721], [33263354, 33263562], [33266979, 33267150], [33269136, 33269254], [33270975, 33271156], [33272144, 33272284], [33282860, 33282959], [33283472, 33283607], [33289587, 33291798]]	[[33234626, 33234765], [33243591, 33243766], [33257554, 33257721], [33263354, 33263562], [33266979, 33267150], [33269136, 33269254], [33270975, 33271156], [33272144, 33272284], [33282860, 33282959], [33283472, 33283607], [33289587, 33289734]]

Promoter

Chrom	Start	End	Description
chr18	33160869	33160902	CAGE_peak_6_at_GALNT1_5end
chr18	33161439	33161480	CAGE_peak_2_at_GALNT1_5end
chr18	33161684	33161696	CAGE_peak_4_at_GALNT1_5end
chr18	33161698	33161709	CAGE_peak_1_at_GALNT1_5end
chr18	33161713	33161725	CAGE_peak_3_at_GALNT1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr18	GH18I035701	35701853	35704553	0.8	[{'connected_gene': 'ZNF397', 'score': 19.44}, {'connected_gene': 'ELP2', 'score': 13.52}, {'connected_gene': 'ENSG00000268573', 'score': 12.69}, {'connected_gene': 'ENSG00000267583', 'score': 10.1}, {'connected_gene': 'GALNT1', 'score': 5.51}, {'connected_gene': 'INO80C', 'score': 4.54}, {'connected_gene': 'LOC105372064', 'score': 0.44}, {'connected_gene': 'GC18P035714', 'score': 0.39}]
chr18	GH18I035412	35412801	35413000	0.38	[{'connected_gene': 'ZNF397', 'score': 14.78}, {'connected_gene': 'ELP2', 'score': 13.94}, {'connected_gene': 'GALNT1', 'score': 11.44}, {'connected_gene': 'LOC105372063', 'score': 0.77}, {'connected_gene': 'ENSG00000267583', 'score': 0.23}]
chr18	GH18I035671	35671577	35673516	0.54	[{'connected_gene': 'MOCOS', 'score': 9.66}, {'connected_gene': 'LOC105372065', 'score': 0.44}, {'connected_gene': 'ENSG00000266965', 'score': 0.18}, {'connected_gene': 'GALNT1', 'score': 0.16}]
chr18	GH18I035605	35605802	35606399	0.56	[{'connected_gene': 'GALNT1', 'score': 11.9}, {'connected_gene': 'ENSG00000268573', 'score': 11.38}, {'connected_gene': 'ZNF397', 'score': 11.17}, {'connected_gene': 'ENSG00000266965', 'score': 0.39}, {'connected_gene': 'LOC105372065', 'score': 0.19}]
chr18	GH18I035606	35605488	35605563	0.27	[{'connected_gene': 'GALNT1', 'score': 12.9}, {'connected_gene': 'ZNF397', 'score': 1.17}, {'connected_gene': 'ENSG00000266965', 'score': 0.44}, {'connected_gene': 'LOC105372065', 'score': 0.19}]
chr18	GH18I035683	35683157	35683246	0.2	[{'connected_gene': 'GALNT1', 'score': 10.95}, {'connected_gene': 'C18orf21', 'score': 9.68}, {'connected_gene': 'LOC105372065', 'score': 0.44}, {'connected_gene': 'LOC105372064', 'score': 0.39}]
chr18	GH18I035654	35654512	35654571	0.5	[{'connected_gene': 'GALNT1', 'score': 550.19}, {'connected_gene': 'C18orf21', 'score': 9.38}, {'connected_gene': 'LOC105372065', 'score': 0.34}, {'connected_gene': 'ENSG00000266965', 'score': 0.22}]
chr18	GH18I035731	35731052	35731331	0.89	[{'connected_gene': 'GALNT1', 'score': 5.13}, {'connected_gene': 'ENSG00000267397', 'score': 0.39}, {'connected_gene': 'NRBF2P1', 'score': 0.14}]
chr18	GH18I035732	35732317	35733355	0.54	[{'connected_gene': 'GALNT1', 'score': 5.03}, {'connected_gene': 'SLC39A6', 'score': 4.34}, {'connected_gene': 'ENSG00000267397', 'score': 0.37}, {'connected_gene': 'NRBF2P1', 'score': 0.14}]
chr18	GH18I035512	35512340	35516734	1.38	[{'connected_gene': 'GALNT1', 'score': 13.8}, {'connected_gene': 'ZNF396', 'score': 10.46}, {'connected_gene': 'INO80C', 'score': 6.13}]
chr18	GH18I035501	35501517	35502515	0.99	[{'connected_gene': 'GALNT1', 'score': 11.34}, {'connected_gene': 'ZNF396', 'score': 10.27}, {'connected_gene': 'INO80C', 'score': 8.75}]
chr18	GH18I035565	35565001	35565200	0.6	[{'connected_gene': 'GALNT1', 'score': 0.37}, {'connected_gene': 'INO80C', 'score': 0.2}]
chr18	GH18I035552	35552709	35554008	0.67	[{'connected_gene': 'GALNT1', 'score': 12.11}, {'connected_gene': 'INO80C', 'score': 0.22}]
chr18	GH18I035546	35546867	35548017	0.2	[{'connected_gene': 'GALNT1', 'score': 11.8}, {'connected_gene': 'INO80C', 'score': 0.25}]
chr18	GH18I035578	35578537	35580040	0.38	[{'connected_gene': 'GALNT1', 'score': 550.77}, {'connected_gene': 'INO80C', 'score': 0.18}]
chr18	GH18I035633	35633532	35636924	0.69	[{'connected_gene': 'GALNT1', 'score': 15.68}, {'connected_gene': 'ENSG00000266965', 'score': 0.28}, {'connected_gene': 'LOC105372065', 'score': 0.26}]
chr18	GH18I035710	35710565	35711770	0.77	[{'connected_gene': 'GALNT1', 'score': 5.31}, {'connected_gene': 'GC18P035714', 'score': 0.77}, {'connected_gene': 'LOC105372064', 'score': 0.39}]
chr18	GH18I035415	35415201	35416400	0.56	[{'connected_gene': 'GALNT1', 'score': 11.44}, {'connected_gene': 'LOC105372063', 'score': 0.44}, {'connected_gene': 'ENSG00000267583', 'score': 0.23}]
chr18	GH18I035413	35412597	35412746	0.31	[{'connected_gene': 'GALNT1', 'score': 11.44}, {'connected_gene': 'ENSG00000268573', 'score': 4.83}, {'connected_gene': 'LOC105372063', 'score': 0.77}, {'connected_gene': 'ENSG00000267583', 'score': 0.23}]
chr18	GH18I035580	35580530	35584169	1.45	[{'connected_gene': 'GALNT1', 'score': 550.77}, {'connected_gene': 'MIR3975', 'score': 0.44}]
chr18	GH18I035589	35589097	35589246	0.46	[{'connected_gene': 'GALNT1', 'score': 4.86}, {'connected_gene': 'MIR3975', 'score': 0.77}]
chr18	GH18I035525	35525802	35527006	1	[{'connected_gene': 'SLC39A6', 'score': 5.16}, {'connected_gene': 'INO80C', 'score': 0.31}, {'connected_gene': 'GALNT1', 'score': 0.23}]
chr18	GH18I035506	35506780	35509306	0.91	[{'connected_gene': 'ZNF396', 'score': 10.46}, {'connected_gene': 'INO80C', 'score': 7.25}, {'connected_gene': 'GALNT1', 'score': 0.19}]
chr18	GH18I035507	35506197	35506346	0.82	[{'connected_gene': 'ZNF396', 'score': 10.47}, {'connected_gene': 'INO80C', 'score': 7.53}, {'connected_gene': 'GALNT1', 'score': 0.19}]
chr18	GH18I035511	35511657	35511766	0.67	[{'connected_gene': 'ZNF396', 'score': 10.46}, {'connected_gene': 'INO80C', 'score': 0.39}, {'connected_gene': 'GALNT1', 'score': 0.2}]
chr18	GH18I035524	35523601	35523800	0.43	[{'connected_gene': 'INO80C', 'score': 0.31}, {'connected_gene': 'GALNT1', 'score': 0.22}]
chr18	GH18I035523	35523877	35524599	0.76	[{'connected_gene': 'INO80C', 'score': 0.31}, {'connected_gene': 'GALNT1', 'score': 0.22}]
chr18	GH18I035696	35695997	35696126	0.2	[{'connected_gene': 'LOC105372064', 'score': 550.77}, {'connected_gene': 'GALNT1', 'score': 4.61}, {'connected_gene': 'LOC105372065', 'score': 0.37}]
chr18	GH18I035695	35695568	35695952	0.34	[{'connected_gene': 'LOC105372064', 'score': 550.77}, {'connected_gene': 'INO80C', 'score': 4.28}, {'connected_gene': 'LOC105372065', 'score': 0.37}, {'connected_gene': 'GALNT1', 'score': 0.14}]
chr18	GH18I035688	35688917	35689009	0.65	[{'connected_gene': 'LOC105372064', 'score': 0.44}, {'connected_gene': 'LOC105372065', 'score': 0.39}, {'connected_gene': 'GALNT1', 'score': 0.14}]
chr18	GH18I035410	35410677	35410786	0.49	[{'connected_gene': 'LOC105372063', 'score': 550.77}, {'connected_gene': 'GALNT1', 'score': 11.43}, {'connected_gene': 'ENSG00000267583', 'score': 0.22}]
chr18	GH18I035407	35407583	35410398	1.25	[{'connected_gene': 'LOC105372063', 'score': 550.77}, {'connected_gene': 'ZNF396', 'score': 12.01}, {'connected_gene': 'GALNT1', 'score': 11.43}, {'connected_gene': 'RPL7AP67', 'score': 0.34}]
chr18	GH18I035591	35591969	35593036	0.9	[{'connected_gene': 'MIR3975', 'score': 550.77}, {'connected_gene': 'ENSG00000266965', 'score': 0.77}, {'connected_gene': 'GALNT1', 'score': 0.39}]
chr18	GH18I035613	35613105	35620590	1.13	[{'connected_gene': 'ENSG00000268573', 'score': 24.07}, {'connected_gene': 'GALNT1', 'score': 17.07}, {'connected_gene': 'ZNF397', 'score': 13.78}, {'connected_gene': 'SLC39A6', 'score': 4.89}, {'connected_gene': 'ENSG00000266965', 'score': 0.34}, {'connected_gene': 'LOC105372065', 'score': 0.21}]
chr18	GH18I035610	35610201	35610400	0.57	[{'connected_gene': 'ENSG00000266965', 'score': 0.39}, {'connected_gene': 'GALNT1', 'score': 0.31}, {'connected_gene': 'LOC105372065', 'score': 0.2}]
chr18	GH18I035611	35611601	35611800	0.2	[{'connected_gene': 'ENSG00000266965', 'score': 0.37}, {'connected_gene': 'GALNT1', 'score': 0.29}, {'connected_gene': 'LOC105372065', 'score': 0.2}]
chr18	GH18I035438	35438601	35439201	0.63	[{'connected_gene': 'ENSG00000268573', 'score': 15.88}, {'connected_gene': 'GALNT1', 'score': 10.44}, {'connected_gene': 'LOC105372063', 'score': 0.31}, {'connected_gene': 'ENSG00000267583', 'score': 0.31}]