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
ENST00000517349	[[30496116, 30496156], [30502008, 30502089], [30502797, 30503581]]	[[30502826, 30503114]]
NM_001206847	[[30496116, 30496156], [30502008, 30502089], [30502797, 30503473]]	[[30502826, 30503114]]

Promoter

Chrom	Start	End	Description
chr8	30496078	30496130	CAGE_peak_1_at_LOC100507341_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr8	GH08I030581	30581953	30583382	0.87	[{'connected_gene': 'HSPA8P11', 'score': 13.7}, {'connected_gene': 'PURG', 'score': 12.35}, {'connected_gene': 'GTF2E2', 'score': 6.43}, {'connected_gene': 'SMIM18', 'score': 5.01}, {'connected_gene': 'ENSG00000253112', 'score': 0.39}, {'connected_gene': 'PIR39743', 'score': 0.37}]
chr8	GH08I030652	30652924	30659247	2.27	[{'connected_gene': 'GTF2E2', 'score': 564.82}, {'connected_gene': 'WRN', 'score': 22.37}, {'connected_gene': 'SMIM18', 'score': 7.9}, {'connected_gene': 'PPP2CB', 'score': 6.34}, {'connected_gene': 'RNU5A-3P', 'score': 0.39}]
chr8	GH08I030461	30453424	30454612	0.2	[{'connected_gene': 'GTF2E2', 'score': 5.06}, {'connected_gene': 'SMIM18', 'score': 4.59}, {'connected_gene': 'RBPMS-AS1', 'score': 0.2}, {'connected_gene': 'RBPMS', 'score': 0.2}, {'connected_gene': 'PIR31328', 'score': 0.16}]
chr8	GH08I030561	30561268	30570056	0.92	[{'connected_gene': 'RBPMS', 'score': 15.65}, {'connected_gene': 'ENSG00000253112', 'score': 12.14}, {'connected_gene': 'RBPMS-AS1', 'score': 10.65}, {'connected_gene': 'SMIM18', 'score': 7.01}, {'connected_gene': 'GTF2E2', 'score': 5.36}, {'connected_gene': 'PIR39743', 'score': 0.77}]
chr8	GH08I030554	30554219	30558478	1.23	[{'connected_gene': 'RBPMS', 'score': 15.21}, {'connected_gene': 'ENSG00000253112', 'score': 11.9}, {'connected_gene': 'RBPMS-AS1', 'score': 10.83}, {'connected_gene': 'SMIM18', 'score': 4.55}, {'connected_gene': 'PIR47741', 'score': 0.77}, {'connected_gene': 'GC08M030557', 'score': 0.77}, {'connected_gene': 'PIR39743', 'score': 0.44}]
chr8	GH08I030643	30643640	30643699	0.82	[{'connected_gene': 'RNU5A-3P', 'score': 550.77}, {'connected_gene': 'GC08P030645', 'score': 550.77}, {'connected_gene': 'SMIM18', 'score': 550.44}, {'connected_gene': 'GTF2E2', 'score': 0.39}]
chr8	GH08I030650	30650860	30651318	0.59	[{'connected_gene': 'SMIM18', 'score': 7.66}, {'connected_gene': 'PPP2CB', 'score': 6.34}, {'connected_gene': 'GTF2E2', 'score': 5.23}, {'connected_gene': 'RNU5A-3P', 'score': 0.44}]
chr8	GH08I030588	30588662	30590364	0.69	[{'connected_gene': 'SMIM18', 'score': 6.89}, {'connected_gene': 'PPP2CB', 'score': 4.98}, {'connected_gene': 'GTF2E2', 'score': 4.95}, {'connected_gene': 'ENSG00000253112', 'score': 0.44}, {'connected_gene': 'PIR39743', 'score': 0.31}]
chr8	GH08I030644	30644533	30650785	1.06	[{'connected_gene': 'SMIM18', 'score': 7.77}, {'connected_gene': 'GTF2E2', 'score': 5.26}, {'connected_gene': 'PPP2CB', 'score': 4.32}, {'connected_gene': 'RNU5A-3P', 'score': 0.77}]
chr8	GH08I030638	30638560	30638619	0.76	[{'connected_gene': 'SMIM18', 'score': 550.77}, {'connected_gene': 'GTF2E2', 'score': 0.37}, {'connected_gene': 'ENSG00000253112', 'score': 0.26}]
chr8	GH08I030616	30616406	30617585	0.88	[{'connected_gene': 'SMIM18', 'score': 11.88}, {'connected_gene': 'ENSG00000253112', 'score': 11.34}, {'connected_gene': 'RNU5A-3P', 'score': 11.31}, {'connected_gene': 'GTF2E2', 'score': 0.26}]
chr8	GH08I030446	30446403	30447145	0.64	[{'connected_gene': 'RBPMS-AS1', 'score': 11.92}, {'connected_gene': 'RBPMS', 'score': 11.92}, {'connected_gene': 'GTF2E2', 'score': 4.86}, {'connected_gene': 'SMIM18', 'score': 4.56}, {'connected_gene': 'PIR31328', 'score': 0.15}]
chr8	GH08I030447	30447825	30451501	1.02	[{'connected_gene': 'RBPMS-AS1', 'score': 11.72}, {'connected_gene': 'RBPMS', 'score': 11.72}, {'connected_gene': 'GTF2E2', 'score': 8.63}, {'connected_gene': 'SMIM18', 'score': 4.6}, {'connected_gene': 'PIR31328', 'score': 0.15}]
chr8	GH08I030600	30600800	30601445	1.08	[{'connected_gene': 'RBPMS-AS1', 'score': 9.97}, {'connected_gene': 'RBPMS', 'score': 9.97}, {'connected_gene': 'GTF2E2', 'score': 5.32}, {'connected_gene': 'ENSG00000253112', 'score': 0.77}, {'connected_gene': 'SMIM18', 'score': 0.28}]
chr8	GH08I030604	30604584	30605639	0.96	[{'connected_gene': 'RBPMS-AS1', 'score': 9.97}, {'connected_gene': 'RBPMS', 'score': 9.97}, {'connected_gene': 'SMIM18', 'score': 5.68}, {'connected_gene': 'ENSG00000253112', 'score': 0.44}, {'connected_gene': 'GTF2E2', 'score': 0.23}]
chr8	GH08I030505	30505868	30507325	0.64	[{'connected_gene': 'RBPMS-AS1', 'score': 11.17}, {'connected_gene': 'RBPMS', 'score': 11.17}, {'connected_gene': 'SMIM18', 'score': 5.14}, {'connected_gene': 'PIR31328', 'score': 0.26}]
chr8	GH08I030620	30620184	30621155	0.75	[{'connected_gene': 'ENSG00000253112', 'score': 11.34}, {'connected_gene': 'RNU5A-3P', 'score': 11.33}, {'connected_gene': 'GTF2E2', 'score': 6.5}, {'connected_gene': 'SMIM18', 'score': 0.37}]
chr8	GH08I030619	30619804	30619953	0.38	[{'connected_gene': 'ENSG00000253112', 'score': 11.34}, {'connected_gene': 'RNU5A-3P', 'score': 11.33}, {'connected_gene': 'SMIM18', 'score': 0.37}, {'connected_gene': 'GTF2E2', 'score': 0.28}]
chr8	GH08I030595	30595904	30597982	0.31	[{'connected_gene': 'ENSG00000253112', 'score': 550.77}, {'connected_gene': 'SMIM18', 'score': 8.24}, {'connected_gene': 'GTF2E2', 'score': 6.38}]
chr8	GH08I030545	30545610	30553795	1.29	[{'connected_gene': 'PIR40668', 'score': 550.77}, {'connected_gene': 'RBPMS-AS1', 'score': 17.12}, {'connected_gene': 'RBPMS', 'score': 17.01}, {'connected_gene': 'ENSG00000253112', 'score': 12.14}, {'connected_gene': 'RNU5A-3P', 'score': 9.85}, {'connected_gene': 'GTF2E2', 'score': 8.01}, {'connected_gene': 'SMIM18', 'score': 4.59}, {'connected_gene': 'PIR62577', 'score': 0.77}, {'connected_gene': 'ENSG00000279041', 'score': 0.77}, {'connected_gene': 'PIR31328', 'score': 0.77}, {'connected_gene': 'PIR38894', 'score': 0.77}]