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
ENST00000304519	[[10530146, 10530223], [10532155, 10532348], [10555108, 10555515], [10557744, 10558103]]	[[10530175, 10530223], [10532155, 10532348], [10555108, 10555515], [10557744, 10557981]]
ENST00000524025	[[10530162, 10530223], [10531093, 10531263], [10532155, 10532348], [10537404, 10537509]]	None
ENST00000517414	[[10530162, 10530223], [10532155, 10532348], [10545793, 10545994]]	None
ENST00000523723	[[10530162, 10530223], [10532155, 10532348], [10544589, 10544781], [10545793, 10547266]]	[[10530175, 10530223], [10532155, 10532348], [10544589, 10544648]]
ENST00000523289	[[10530170, 10530223], [10532155, 10532348], [10544589, 10544781], [10555108, 10555515], [10557744, 10558100]]	[[10530175, 10530223], [10532155, 10532348], [10544589, 10544648]]
ENST00000521818	[[10530180, 10530223], [10532155, 10532348], [10548379, 10550481]]	[[10530180, 10530223], [10532155, 10532348], [10548379, 10548441]]
ENST00000519925	[[10532155, 10532348], [10533080, 10533348]]	None
NM_001040032	[[10530146, 10530223], [10532155, 10532348], [10555108, 10555515], [10557744, 10558103]]	[[10530175, 10530223], [10532155, 10532348], [10555108, 10555515], [10557744, 10557981]]

Promoter

Chrom	Start	End	Description
chr8	10530133	10530143	CAGE_peak_2_at_C8orf74_5end
chr8	10530155	10530168	CAGE_peak_1_at_C8orf74_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr8	GH08I010713	10713951	10714100	0.66	[{'connected_gene': 'RP1L1', 'score': 550.77}, {'connected_gene': 'C8orf74', 'score': 11.58}, {'connected_gene': 'ENSG00000269918', 'score': 6.91}, {'connected_gene': 'SOX7', 'score': 6.32}, {'connected_gene': 'LOC102723313', 'score': 0.39}]
chr8	GH08I010798	10798443	10802449	1.59	[{'connected_gene': 'RP1L1', 'score': 17.54}, {'connected_gene': 'C8orf74', 'score': 11.07}, {'connected_gene': 'LOC102723313', 'score': 10.28}, {'connected_gene': 'ENSG00000269918', 'score': 9.01}, {'connected_gene': 'SOX7', 'score': 8.94}, {'connected_gene': 'ENSG00000255310', 'score': 4.59}, {'connected_gene': 'GC08M010803', 'score': 0.77}, {'connected_gene': 'PINX1', 'score': 0.28}, {'connected_gene': 'ENSG00000258724', 'score': 0.28}, {'connected_gene': 'GC08M010757', 'score': 0.28}]
chr8	GH08I010679	10679946	10681696	0.91	[{'connected_gene': 'RP1L1', 'score': 11.89}, {'connected_gene': 'ENSG00000269918', 'score': 6.69}, {'connected_gene': 'C8orf74', 'score': 0.44}, {'connected_gene': 'RNA5SP252', 'score': 0.44}]
chr8	GH08I010690	10690452	10691977	1.1	[{'connected_gene': 'RP1L1', 'score': 12.25}, {'connected_gene': 'RNA5SP252', 'score': 0.77}, {'connected_gene': 'C8orf74', 'score': 0.37}]
chr8	GH08I010683	10683821	10684578	0.2	[{'connected_gene': 'RP1L1', 'score': 11.91}, {'connected_gene': 'ENSG00000269918', 'score': 4.36}, {'connected_gene': 'RNA5SP252', 'score': 0.77}, {'connected_gene': 'C8orf74', 'score': 0.39}]
chr8	GH08I010651	10651171	10651320	0.31	[{'connected_gene': 'C8orf74', 'score': 12.55}, {'connected_gene': 'RP1L1', 'score': 11.34}, {'connected_gene': 'ENSG00000269954', 'score': 9.64}, {'connected_gene': 'MIR4286', 'score': 0.37}, {'connected_gene': 'LOC105379237', 'score': 0.19}]
chr8	GH08I010714	10714606	10717875	1.5	[{'connected_gene': 'C8orf74', 'score': 11.58}, {'connected_gene': 'ENSG00000269918', 'score': 8.28}, {'connected_gene': 'SOX7', 'score': 6.85}, {'connected_gene': 'RP1L1', 'score': 5.38}, {'connected_gene': 'LOC102723313', 'score': 0.39}]
chr8	GH08I010672	10672604	10672663	0.82	[{'connected_gene': 'C8orf74', 'score': 550.77}, {'connected_gene': 'RNA5SP252', 'score': 0.39}, {'connected_gene': 'RP1L1', 'score': 0.28}]
chr8	GH08I010698	10698171	10699302	0.8	[{'connected_gene': 'LOC101929290', 'score': 12.96}, {'connected_gene': 'C8orf74', 'score': 12.44}, {'connected_gene': 'PINX1', 'score': 11.81}, {'connected_gene': 'ENSG00000269918', 'score': 5.89}, {'connected_gene': 'RP1L1', 'score': 0.39}, {'connected_gene': 'RNA5SP252', 'score': 0.39}]
chr8	GH08I010728	10728561	10731134	1.97	[{'connected_gene': 'GC08M010730', 'score': 550.77}, {'connected_gene': 'SOX7', 'score': 550.77}, {'connected_gene': 'LOC102723313', 'score': 550.77}, {'connected_gene': 'C8orf74', 'score': 11.77}, {'connected_gene': 'RP1L1', 'score': 7.95}, {'connected_gene': 'ENSG00000269918', 'score': 7.65}, {'connected_gene': 'ENSG00000258724', 'score': 0.14}]
chr8	GH08I010965	10965650	10965862	0.41	[{'connected_gene': 'GC08P010967', 'score': 550.77}, {'connected_gene': 'PIR55470', 'score': 550.77}, {'connected_gene': 'C8orf74', 'score': 26.34}, {'connected_gene': 'PRSS55', 'score': 16.61}, {'connected_gene': 'ENSG00000254936', 'score': 9.73}, {'connected_gene': 'PIR49045', 'score': 0.16}, {'connected_gene': 'XKR6', 'score': 0.07}]