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
ENST00000373030	[[42219570, 42219694], [42223332, 42223457], [42225074, 42225162], [42232399, 42232529], [42232822, 42232898], [42233641, 42233713], [42242489, 42242616], [42247579, 42247666], [42249496, 42249565], [42252530, 42252685], [42264565, 42264653], [42265784, 42265893], [42271118, 42271264], [42275575, 42275936]]	[[42223338, 42223457], [42225074, 42225162], [42232399, 42232529], [42232822, 42232898], [42233641, 42233713], [42242489, 42242616], [42247579, 42247666], [42249496, 42249565], [42252530, 42252685], [42264565, 42264653], [42265784, 42265893], [42271118, 42271264], [42275575, 42275623]]
ENST00000373039	[[42219629, 42219669], [42223332, 42223457], [42225074, 42225162], [42232399, 42232529], [42232822, 42232898], [42233641, 42233713], [42242489, 42242616], [42247579, 42247666], [42249496, 42249565], [42252530, 42252685], [42264565, 42264653], [42265784, 42265893], [42271118, 42271264], [42275575, 42275862]]	[[42223338, 42223457], [42225074, 42225162], [42232399, 42232529], [42232822, 42232898], [42233641, 42233713], [42242489, 42242616], [42247579, 42247666], [42249496, 42249565], [42252530, 42252685], [42264565, 42264653], [42265784, 42265893], [42271118, 42271264], [42275575, 42275623]]
ENST00000486243	[[42223361, 42223457], [42225074, 42225162], [42233641, 42233713]]	None
ENST00000476986	[[42232513, 42232529], [42232822, 42232898], [42233641, 42233856]]	None
ENST00000467024	[[42242489, 42242616], [42247579, 42247666], [42249496, 42249565], [42252530, 42252762]]	None
ENST00000468420	[[42242538, 42242616], [42246882, 42246993], [42247579, 42247666], [42249496, 42249565], [42252530, 42252685], [42264565, 42264653], [42265784, 42265844]]	None
ENST00000460014	[[42242605, 42242616], [42247579, 42247666], [42249496, 42249698]]	None
ENST00000461012	[[42265786, 42265893], [42275575, 42275867]]	None
ENST00000471199	[[42270797, 42271264], [42275575, 42275857]]	None
NM_001303459	[[42219252, 42219669], [42223332, 42223457], [42225074, 42225162], [42232399, 42232529], [42232822, 42232898], [42233641, 42233713], [42242489, 42242616], [42247579, 42247666], [42249496, 42249565], [42252530, 42252685], [42264565, 42264653], [42265784, 42265893], [42275575, 42275936]]	[[42223338, 42223457], [42225074, 42225162], [42232399, 42232529], [42232822, 42232898], [42233641, 42233713], [42242489, 42242616], [42247579, 42247666], [42249496, 42249565], [42252530, 42252685], [42264565, 42264653], [42265784, 42265893], [42275575, 42275577]]
NM_001303458	[[42219252, 42219669], [42223332, 42223457], [42225074, 42225162], [42232399, 42232529], [42232822, 42232898], [42233641, 42233713], [42242489, 42242616], [42247579, 42247666], [42249496, 42249565], [42252530, 42252685], [42264565, 42264653], [42265784, 42265893], [42271118, 42271264], [42275575, 42275936]]	[[42223338, 42223457], [42225074, 42225162], [42232399, 42232529], [42232822, 42232898], [42233641, 42233713], [42242489, 42242616], [42247579, 42247666], [42249496, 42249565], [42252530, 42252685], [42264565, 42264653], [42265784, 42265893], [42271118, 42271264], [42275575, 42275623]]
NM_001323581	[[42219252, 42219669], [42223332, 42223457], [42225074, 42225162], [42232399, 42232529], [42232822, 42232898], [42233641, 42233713], [42242489, 42242616], [42246880, 42246993], [42247579, 42247666], [42249496, 42249565], [42252530, 42252685], [42264565, 42264653], [42265784, 42265893], [42271118, 42271264], [42275575, 42275936]]	[[42247618, 42247666], [42249496, 42249565], [42252530, 42252685], [42264565, 42264653], [42265784, 42265893], [42271118, 42271264], [42275575, 42275623]]
NM_001323580	[[42219252, 42219669], [42223332, 42223457], [42225074, 42225162], [42232399, 42232529], [42232822, 42232898], [42233641, 42233856], [42242489, 42242616], [42247579, 42247666], [42249496, 42249565], [42252530, 42252685], [42264565, 42264653], [42265784, 42265893], [42271118, 42271264], [42275575, 42275936]]	[[42242532, 42242616], [42247579, 42247666], [42249496, 42249565], [42252530, 42252685], [42264565, 42264653], [42265784, 42265893], [42271118, 42271264], [42275575, 42275623]]
NM_016004	[[42219252, 42219694], [42223332, 42223457], [42225074, 42225162], [42232399, 42232529], [42232822, 42232898], [42233641, 42233713], [42242489, 42242616], [42247579, 42247666], [42249496, 42249565], [42252530, 42252685], [42264565, 42264653], [42265784, 42265893], [42271118, 42271264], [42275575, 42275936]]	[[42223338, 42223457], [42225074, 42225162], [42232399, 42232529], [42232822, 42232898], [42233641, 42233713], [42242489, 42242616], [42247579, 42247666], [42249496, 42249565], [42252530, 42252685], [42264565, 42264653], [42265784, 42265893], [42271118, 42271264], [42275575, 42275623]]
NM_001323579	[[42219252, 42219694], [42223332, 42223457], [42225074, 42225162], [42232399, 42232529], [42232822, 42232898], [42233641, 42233713], [42242489, 42242616], [42246880, 42246993], [42247579, 42247666], [42249496, 42249565], [42252530, 42252685], [42264565, 42264653], [42265784, 42265893], [42271118, 42271264], [42275575, 42275936]]	[[42247618, 42247666], [42249496, 42249565], [42252530, 42252685], [42264565, 42264653], [42265784, 42265893], [42271118, 42271264], [42275575, 42275623]]
NM_001323578	[[42219252, 42219694], [42223332, 42223457], [42225074, 42225162], [42232399, 42232529], [42232822, 42232898], [42233641, 42233856], [42242489, 42242616], [42247579, 42247666], [42249496, 42249565], [42252530, 42252685], [42264565, 42264653], [42265784, 42265893], [42271118, 42271264], [42275575, 42275936]]	[[42242532, 42242616], [42247579, 42247666], [42249496, 42249565], [42252530, 42252685], [42264565, 42264653], [42265784, 42265893], [42271118, 42271264], [42275575, 42275623]]

Promoter

Chrom	Start	End	Description
chr20	42219559	42219643	CAGE_peak_1_at_IFT52_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr20	GH20I043924	43924101	43927035	1.35	[{'connected_gene': 'TOX2', 'score': 5.53}, {'connected_gene': 'IFT52', 'score': 1.36}, {'connected_gene': 'RN7SL443P', 'score': 0.18}]
chr20	GH20I043456	43456506	43459926	2.51	[{'connected_gene': 'SRSF6', 'score': 588.56}, {'connected_gene': 'L3MBTL1', 'score': 28.38}, {'connected_gene': 'IFT52', 'score': 10.39}, {'connected_gene': 'OSER1', 'score': 9.75}, {'connected_gene': 'GC20P043474', 'score': 0.39}]
chr20	GH20I044173	44173956	44189616	2.62	[{'connected_gene': 'JPH2', 'score': 569.71}, {'connected_gene': 'SRSF6', 'score': 67.97}, {'connected_gene': 'OSER1', 'score': 30.83}, {'connected_gene': 'L3MBTL1', 'score': 20.83}, {'connected_gene': 'FITM2', 'score': 13.17}, {'connected_gene': 'IFT52', 'score': 10.92}, {'connected_gene': 'SGK2', 'score': 9.84}, {'connected_gene': 'OSER1-AS1', 'score': 7.55}, {'connected_gene': 'GC20P044130', 'score': 0.23}]
chr20	GH20I044206	44206836	44212942	2.33	[{'connected_gene': 'OSER1', 'score': 570.29}, {'connected_gene': 'OSER1-AS1', 'score': 566.22}, {'connected_gene': 'SRSF6', 'score': 22.04}, {'connected_gene': 'FITM2', 'score': 12.3}, {'connected_gene': 'L3MBTL1', 'score': 11.73}, {'connected_gene': 'KCNK15', 'score': 11.53}, {'connected_gene': 'IFT52', 'score': 11.19}, {'connected_gene': 'WISP2', 'score': 10.49}, {'connected_gene': 'JPH2', 'score': 0.34}]
chr20	GH20I043589	43589810	43591789	2.05	[{'connected_gene': 'IFT52', 'score': 574.59}, {'connected_gene': 'ENSG00000282876', 'score': 550.77}, {'connected_gene': 'MYBL2', 'score': 16.09}, {'connected_gene': 'SRSF6', 'score': 14.81}, {'connected_gene': 'GC20P043584', 'score': 0.44}, {'connected_gene': 'RPL27AP', 'score': 0.21}]
chr20	GH20I043721	43721698	43722738	0.86	[{'connected_gene': 'IFT52', 'score': 23.3}, {'connected_gene': 'MYBL2', 'score': 18.48}, {'connected_gene': 'GTSF1L', 'score': 0.77}, {'connected_gene': 'GC20M043632', 'score': 0.34}]
chr20	GH20I043680	43680694	43683513	1.16	[{'connected_gene': 'IFT52', 'score': 24.07}, {'connected_gene': 'MYBL2', 'score': 19.24}, {'connected_gene': 'GC20M043632', 'score': 0.37}]
chr20	GH20I044575	44575319	44577799	1.31	[{'connected_gene': 'IFT52', 'score': 12.84}, {'connected_gene': 'ENSG00000237464', 'score': 4.18}, {'connected_gene': 'PIR61280', 'score': 0.26}, {'connected_gene': 'PKIG', 'score': 0.26}, {'connected_gene': 'GC20M044554', 'score': 0.19}]
chr20	GH20I043748	43748201	43748400	0.43	[{'connected_gene': 'IFT52', 'score': 8.86}, {'connected_gene': 'LOC101927200', 'score': 0.34}, {'connected_gene': 'GC20P043769', 'score': 0.34}]
chr20	GH20I043755	43755299	43756655	0.43	[{'connected_gene': 'IFT52', 'score': 4.74}, {'connected_gene': 'GC20P043769', 'score': 0.39}, {'connected_gene': 'LOC101927200', 'score': 0.31}]
chr20	GH20I043745	43745001	43745600	0.66	[{'connected_gene': 'IFT52', 'score': 10.5}, {'connected_gene': 'LOC101927200', 'score': 0.37}, {'connected_gene': 'GC20P043769', 'score': 0.34}]
chr20	GH20I043666	43666187	43668243	1.97	[{'connected_gene': 'MYBL2', 'score': 571.46}, {'connected_gene': 'IFT52', 'score': 24.01}, {'connected_gene': 'SRSF6', 'score': 10.25}, {'connected_gene': 'OSER1', 'score': 9.75}, {'connected_gene': 'GC20M043632', 'score': 0.29}]
chr20	GH20I043513	43513333	43515609	1.95	[{'connected_gene': 'L3MBTL1', 'score': 550.44}, {'connected_gene': 'RNU6-1251P', 'score': 11.69}, {'connected_gene': 'ENSG00000226143', 'score': 11.42}, {'connected_gene': 'IFT52', 'score': 10.52}, {'connected_gene': 'SGK2', 'score': 10.46}, {'connected_gene': 'ENSG00000234271', 'score': 0.44}, {'connected_gene': 'GC20M043507', 'score': 0.39}]
chr20	GH20I043555	43555534	43561695	1.92	[{'connected_gene': 'SGK2', 'score': 557.11}, {'connected_gene': 'IFT52', 'score': 11.38}, {'connected_gene': 'SRSF6', 'score': 10.41}, {'connected_gene': 'RNU6-1251P', 'score': 10.22}, {'connected_gene': 'ENSG00000226143', 'score': 0.44}, {'connected_gene': 'ENSG00000277611', 'score': 0.37}]
chr20	GH20I043565	43565175	43565234	0.61	[{'connected_gene': 'SGK2', 'score': 550.44}, {'connected_gene': 'IFT52', 'score': 11.52}, {'connected_gene': 'GC20P043584', 'score': 0.37}, {'connected_gene': 'ENSG00000277611', 'score': 0.31}]
chr20	GH20I044309	44309671	44311830	2.07	[{'connected_gene': 'FITM2', 'score': 550.77}, {'connected_gene': 'IFT52', 'score': 12.84}, {'connected_gene': 'TTPAL', 'score': 4.89}, {'connected_gene': 'GC20M044290', 'score': 0.37}]
chr20	GH20I044384	44384376	44385646	1.08	[{'connected_gene': 'FITM2', 'score': 11.33}, {'connected_gene': 'LINC01620', 'score': 10.55}, {'connected_gene': 'LINC01430', 'score': 10.55}, {'connected_gene': 'IFT52', 'score': 10.12}, {'connected_gene': 'OSER1-AS1', 'score': 7.45}, {'connected_gene': 'OSER1', 'score': 4.77}, {'connected_gene': 'ENSG00000233376', 'score': 0.44}, {'connected_gene': 'HNF4A-AS1', 'score': 0.39}, {'connected_gene': 'LOC105372629', 'score': 0.31}, {'connected_gene': 'HNF4A', 'score': 0.31}]
chr20	GH20I043653	43653869	43654359	0.31	[{'connected_gene': 'RPL27AP', 'score': 550.77}, {'connected_gene': 'GC20P043655', 'score': 550.77}, {'connected_gene': 'IFT52', 'score': 11.04}, {'connected_gene': 'SGK2', 'score': 9.46}, {'connected_gene': 'GC20M043632', 'score': 0.25}]
chr20	GH20I043652	43652578	43653519	0.9	[{'connected_gene': 'RPL27AP', 'score': 550.77}, {'connected_gene': 'MYBL2', 'score': 12.39}, {'connected_gene': 'IFT52', 'score': 11.04}, {'connected_gene': 'SGK2', 'score': 9.46}, {'connected_gene': 'GC20P043655', 'score': 0.77}, {'connected_gene': 'GC20M043632', 'score': 0.25}]
chr20	GH20I043515	43515940	43515950	0.38	[{'connected_gene': 'RNU6-1251P', 'score': 11.69}, {'connected_gene': 'ENSG00000226143', 'score': 11.42}, {'connected_gene': 'IFT52', 'score': 10.53}, {'connected_gene': 'SGK2', 'score': 10.46}, {'connected_gene': 'L3MBTL1', 'score': 0.44}, {'connected_gene': 'ENSG00000234271', 'score': 0.44}, {'connected_gene': 'GC20M043507', 'score': 0.39}]
chr20	GH20I044350	44350562	44358613	1.66	[{'connected_gene': 'LOC105372629', 'score': 561.32}, {'connected_gene': 'GC20P044356', 'score': 550.77}, {'connected_gene': 'HNF4A', 'score': 550.77}, {'connected_gene': 'SRSF6', 'score': 57.31}, {'connected_gene': 'L3MBTL1', 'score': 12.78}, {'connected_gene': 'IFT52', 'score': 10.3}, {'connected_gene': 'OSER1', 'score': 7.84}, {'connected_gene': 'OSER1-AS1', 'score': 5.95}, {'connected_gene': 'MYBL2', 'score': 4.53}, {'connected_gene': 'ENSG00000201363', 'score': 0.44}, {'connected_gene': 'R3HDML', 'score': 0.37}]
chr20	GH20I043725	43725461	43725610	0.86	[{'connected_gene': 'LOC101927200', 'score': 550.77}, {'connected_gene': 'GTSF1L', 'score': 550.77}, {'connected_gene': 'IFT52', 'score': 23.82}, {'connected_gene': 'GC20M043632', 'score': 0.31}]
chr20	GH20I043583	43583256	43585856	1.14	[{'connected_gene': 'GC20P043584', 'score': 550.77}, {'connected_gene': 'IFT52', 'score': 24.25}, {'connected_gene': 'MYBL2', 'score': 14.49}, {'connected_gene': 'SRSF6', 'score': 11.67}, {'connected_gene': 'SGK2', 'score': 0.31}]
chr20	GH20I043656	43656299	43659059	1.63	[{'connected_gene': 'GC20P043655', 'score': 550.77}, {'connected_gene': 'IFT52', 'score': 28.09}, {'connected_gene': 'MYBL2', 'score': 18.22}, {'connected_gene': 'OSER1', 'score': 18.07}, {'connected_gene': 'SRSF6', 'score': 13.2}, {'connected_gene': 'SGK2', 'score': 10.26}, {'connected_gene': 'L3MBTL1', 'score': 2.82}, {'connected_gene': 'GC20M043632', 'score': 0.26}]