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
ENST00000520500	[[30657096, 30657271], [30671402, 30671830]]	None
ENST00000523023	[[30631972, 30632141], [30632348, 30632446], [30643726, 30643823], [30648712, 30648796]]	[[30643750, 30643823], [30648712, 30648796]]
ENST00000221138	[[30643125, 30643823], [30648712, 30648831], [30651432, 30651594], [30651707, 30651797], [30655096, 30655270], [30657061, 30657271], [30669835, 30670388]]	[[30643750, 30643823], [30648712, 30648831], [30651432, 30651594], [30651707, 30651797], [30655096, 30655270], [30657061, 30657271], [30669835, 30669937]]
ENST00000518564	[[30643131, 30643505], [30657232, 30657271], [30669835, 30670113]]	[[30643502, 30643505], [30657232, 30657271], [30669835, 30669937]]
ENST00000518532	[[30643624, 30643823], [30648712, 30649079]]	None
ENST00000522113	[[30643644, 30643823], [30643947, 30644004]]	None
ENST00000520334	[[30648505, 30648831], [30651432, 30651594], [30651707, 30651797]]	[[30648708, 30648831], [30651432, 30651594], [30651707, 30651797]]
ENST00000523804	[[30650631, 30651594], [30651707, 30652006]]	None
ENST00000518243	[[30651477, 30651594], [30651707, 30651797], [30655096, 30655270], [30657061, 30657164], [30670301, 30670394]]	[[30651477, 30651594], [30651707, 30651797], [30655096, 30655270], [30657061, 30657164], [30670301, 30670369]]
ENST00000520056	[[30651713, 30651797], [30655096, 30655270], [30657061, 30657271], [30667505, 30667792]]	[[30651713, 30651797], [30655096, 30655270], [30657061, 30657178]]
NM_001009552	[[30643125, 30643823], [30648712, 30648831], [30651432, 30651594], [30651707, 30651797], [30655096, 30655270], [30657061, 30657271], [30669835, 30670352]]	[[30643750, 30643823], [30648712, 30648831], [30651432, 30651594], [30651707, 30651797], [30655096, 30655270], [30657061, 30657271], [30669835, 30669937]]

Promoter

Chrom	Start	End	Description
chr8	30670053	30670085	CAGE_peak_3_at_PPP2CB_5end
chr8	30670289	30670354	CAGE_peak_1_at_PPP2CB_5end
chr8	30670368	30670379	CAGE_peak_2_at_PPP2CB_5end
chr8	30670384	30670393	CAGE_peak_6_at_PPP2CB_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr8	GH08I030742	30742910	30745373	2.26	[{'connected_gene': 'UBXN8', 'score': 558.46}, {'connected_gene': 'GC08M030742', 'score': 550.77}, {'connected_gene': 'LOC105379355', 'score': 550.77}, {'connected_gene': 'WRN', 'score': 13.11}, {'connected_gene': 'GTF2E2', 'score': 11.56}, {'connected_gene': 'RPS15AP24', 'score': 10.83}, {'connected_gene': 'PPP2CB', 'score': 10.77}, {'connected_gene': 'RNU5A-3P', 'score': 10.06}, {'connected_gene': 'GSR', 'score': 9.73}]
chr8	GH08I030848	30848999	30849058	0.5	[{'connected_gene': 'TEX15', 'score': 550.21}, {'connected_gene': 'PPP2CB', 'score': 11.14}, {'connected_gene': 'LOC105379357', 'score': 0.28}]
chr8	GH08I030911	30911578	30913354	1.15	[{'connected_gene': 'TEX15', 'score': 550.77}, {'connected_gene': 'PPP2CB', 'score': 33.06}, {'connected_gene': 'LOC105379357', 'score': 0.34}]
chr8	GH08I030710	30710396	30711578	0.38	[{'connected_gene': 'PPP2CB', 'score': 10.45}, {'connected_gene': 'UBXN8', 'score': 9.52}, {'connected_gene': 'GSR', 'score': 0.37}, {'connected_gene': 'GTF2E2', 'score': 0.23}]
chr8	GH08I031076	31075298	31075967	0.59	[{'connected_gene': 'PPP2CB', 'score': 4.12}, {'connected_gene': 'PURG', 'score': 0.26}, {'connected_gene': 'WRN', 'score': 0.26}, {'connected_gene': 'SUMO2P16', 'score': 0.22}]
chr8	GH08I030810	30810800	30813748	2.04	[{'connected_gene': 'PPP2CB', 'score': 581.22}, {'connected_gene': 'GTF2E2', 'score': 27.52}, {'connected_gene': 'WRN', 'score': 27.38}, {'connected_gene': 'PIR42776', 'score': 0.39}]
chr8	GH08I030807	30807665	30808501	0.2	[{'connected_gene': 'PPP2CB', 'score': 13.4}, {'connected_gene': 'GSR', 'score': 6.27}, {'connected_gene': 'PIR42776', 'score': 0.39}]
chr8	GH08I030771	30771589	30772210	0.31	[{'connected_gene': 'PPP2CB', 'score': 5.93}, {'connected_gene': 'ENSG00000271081', 'score': 0.37}, {'connected_gene': 'PIR42776', 'score': 0.31}]
chr8	GH08I030789	30789458	30789753	0.52	[{'connected_gene': 'PPP2CB', 'score': 7.1}, {'connected_gene': 'PIR42776', 'score': 0.44}, {'connected_gene': 'ENSG00000271081', 'score': 0.28}]
chr8	GH08I030777	30776816	30779228	0.58	[{'connected_gene': 'PPP2CB', 'score': 13.18}, {'connected_gene': 'PIR42776', 'score': 0.37}, {'connected_gene': 'ENSG00000271081', 'score': 0.34}]
chr8	GH08I030770	30770836	30771236	0.2	[{'connected_gene': 'PPP2CB', 'score': 5.94}, {'connected_gene': 'ENSG00000271081', 'score': 0.37}, {'connected_gene': 'PIR42776', 'score': 0.31}]
chr8	GH08I030776	30776255	30776718	0.2	[{'connected_gene': 'PPP2CB', 'score': 10.08}, {'connected_gene': 'ENSG00000271081', 'score': 0.34}, {'connected_gene': 'PIR42776', 'score': 0.34}]
chr8	GH08I030811	30809201	30809400	0.63	[{'connected_gene': 'PPP2CB', 'score': 0.44}, {'connected_gene': 'PIR42776', 'score': 0.39}]
chr8	GH08I030800	30800725	30805999	1.3	[{'connected_gene': 'PPP2CB', 'score': 30.77}, {'connected_gene': 'PIR42776', 'score': 0.44}]
chr8	GH08I030808	30808750	30808946	0.62	[{'connected_gene': 'PPP2CB', 'score': 0.44}, {'connected_gene': 'PIR42776', 'score': 0.39}]
chr8	GH08I030809	30809801	30810000	0.51	[{'connected_gene': 'PPP2CB', 'score': 0.77}, {'connected_gene': 'PIR42776', 'score': 0.39}]
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	GH08I030775	30775226	30775684	0.2	[{'connected_gene': 'GSR', 'score': 6.58}, {'connected_gene': 'ENSG00000271081', 'score': 0.34}, {'connected_gene': 'PIR42776', 'score': 0.34}, {'connected_gene': 'PPP2CB', 'score': 0.28}]
chr8	GH08I030579	30579124	30581375	0.31	[{'connected_gene': 'RBPMS', 'score': 16.23}, {'connected_gene': 'RBPMS-AS1', 'score': 10.23}, {'connected_gene': 'RNU5A-3P', 'score': 10.19}, {'connected_gene': 'GTF2E2', 'score': 6.56}, {'connected_gene': 'PPP2CB', 'score': 4.33}, {'connected_gene': 'ENSG00000253112', 'score': 0.37}, {'connected_gene': 'PIR39743', 'score': 0.37}]
chr8	GH08I030875	30875813	30875826	0.23	[{'connected_gene': 'LOC105379357', 'score': 0.39}, {'connected_gene': 'TEX15', 'score': 0.28}, {'connected_gene': 'PPP2CB', 'score': 0.21}]
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	GH08I030410	30410739	30418412	1.27	[{'connected_gene': 'RBPMS-AS1', 'score': 19.11}, {'connected_gene': 'RBPMS', 'score': 12.91}, {'connected_gene': 'PPP2CB', 'score': 5.31}, {'connected_gene': 'PPIAP84', 'score': 4.48}, {'connected_gene': 'PIR31328', 'score': 0.12}]
chr8	GH08I030516	30516831	30518803	1.17	[{'connected_gene': 'RBPMS-AS1', 'score': 11.02}, {'connected_gene': 'RBPMS', 'score': 11.02}, {'connected_gene': 'GTF2E2', 'score': 7.95}, {'connected_gene': 'PPP2CB', 'score': 4.82}, {'connected_gene': 'PIR31328', 'score': 0.31}]
chr8	GH08I030787	30787509	30787696	0.2	[{'connected_gene': 'PIR42776', 'score': 0.39}, {'connected_gene': 'PPP2CB', 'score': 0.31}, {'connected_gene': 'ENSG00000271081', 'score': 0.29}]
chr8	GH08I030780	30780343	30780537	0.2	[{'connected_gene': 'PIR42776', 'score': 0.37}, {'connected_gene': 'ENSG00000271081', 'score': 0.31}, {'connected_gene': 'PPP2CB', 'score': 0.29}]
chr8	GH08I030790	30790480	30790750	0.2	[{'connected_gene': 'PIR42776', 'score': 0.44}, {'connected_gene': 'PPP2CB', 'score': 0.34}, {'connected_gene': 'ENSG00000271081', 'score': 0.28}]
chr8	GH08I030786	30786267	30786545	0.2	[{'connected_gene': 'PIR42776', 'score': 0.39}, {'connected_gene': 'PPP2CB', 'score': 0.31}, {'connected_gene': 'ENSG00000271081', 'score': 0.29}]
chr8	GH08I030791	30790224	30790401	0.31	[{'connected_gene': 'PIR42776', 'score': 0.44}, {'connected_gene': 'PPP2CB', 'score': 0.34}, {'connected_gene': 'ENSG00000271081', 'score': 0.28}]
chr8	GH08I030788	30788648	30788925	0.46	[{'connected_gene': 'PIR42776', 'score': 0.44}, {'connected_gene': 'PPP2CB', 'score': 0.31}, {'connected_gene': 'ENSG00000271081', 'score': 0.29}]
chr8	GH08I030797	30797998	30798685	0.58	[{'connected_gene': 'PIR42776', 'score': 550.77}, {'connected_gene': 'PPP2CB', 'score': 0.37}]
chr8	GH08I030743	30742519	30742833	0.65	[{'connected_gene': 'GC08M030742', 'score': 550.77}, {'connected_gene': 'LOC105379355', 'score': 550.77}, {'connected_gene': 'PPP2CB', 'score': 10.77}, {'connected_gene': 'RNU5A-3P', 'score': 10.06}, {'connected_gene': 'GSR', 'score': 8.86}, {'connected_gene': 'PIR49055', 'score': 0.44}, {'connected_gene': 'UBXN8', 'score': 0.39}]