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

Promoter

Chrom	Start	End	Description
chr17	26659200	26659225	CAGE_peak_5_at_IFT20_5end
chr17	26662440	26662463	CAGE_peak_2_at_IFT20_5end
chr17	26662464	26662519	CAGE_peak_1_at_IFT20_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I028333	28333915	28339817	2.29	[{'connected_gene': 'TNFAIP1', 'score': 550.77}, {'connected_gene': 'IFT20', 'score': 550.77}, {'connected_gene': 'SUPT6H', 'score': 26.21}, {'connected_gene': 'ENSG00000264577', 'score': 24.74}, {'connected_gene': 'NUFIP2', 'score': 24.02}, {'connected_gene': 'ITM2BP1', 'score': 20.74}, {'connected_gene': 'RPL23A', 'score': 12.34}, {'connected_gene': 'TMEM97', 'score': 12.33}, {'connected_gene': 'NEK8', 'score': 12.23}, {'connected_gene': 'POLDIP2', 'score': 12.21}, {'connected_gene': 'TMEM199', 'score': 12.02}, {'connected_gene': 'LOC101927018', 'score': 11.86}, {'connected_gene': 'ENSG00000265474', 'score': 11.23}, {'connected_gene': 'ENSG00000265908', 'score': 10.58}, {'connected_gene': 'PHF12', 'score': 10.52}, {'connected_gene': 'RAB34', 'score': 10.21}, {'connected_gene': 'VTN', 'score': 7.78}, {'connected_gene': 'PIR55130', 'score': 0.44}]
chr17	GH17I028071	28071828	28072664	0.59	[{'connected_gene': 'SUPT6H', 'score': 14.64}, {'connected_gene': 'ENSG00000264577', 'score': 11.5}, {'connected_gene': 'ITM2BP1', 'score': 10.49}, {'connected_gene': 'IFT20', 'score': 10.19}, {'connected_gene': 'TMEM199', 'score': 9.96}, {'connected_gene': 'ENSG00000252283', 'score': 0.39}, {'connected_gene': 'GC17M028077', 'score': 0.39}, {'connected_gene': 'NLK', 'score': 0.29}]
chr17	GH17I029175	29175769	29181465	2.62	[{'connected_gene': 'MYO18A', 'score': 581.89}, {'connected_gene': 'TMEM199', 'score': 19.81}, {'connected_gene': 'IFT20', 'score': 10.15}, {'connected_gene': 'TIAF1', 'score': 6.49}, {'connected_gene': 'ENSG00000265474', 'score': 4.63}, {'connected_gene': 'TLCD1', 'score': 2.75}, {'connected_gene': 'TRAF4', 'score': 2.19}, {'connected_gene': 'GIT1', 'score': 1.27}, {'connected_gene': 'ENSG00000263709', 'score': 0.28}, {'connected_gene': 'GC17M029118', 'score': 0.13}]
chr17	GH17I027600	27600966	27601725	0.74	[{'connected_gene': 'LGALS9', 'score': 17.26}, {'connected_gene': 'IFT20', 'score': 10.15}, {'connected_gene': 'TMEM199', 'score': 9.93}, {'connected_gene': 'PIR39350', 'score': 0.77}, {'connected_gene': 'PIR50901', 'score': 0.2}, {'connected_gene': 'KSR1', 'score': 0.11}]
chr17	GH17I028393	28393995	28399737	0.8	[{'connected_gene': 'POLDIP2', 'score': 23.36}, {'connected_gene': 'VTN', 'score': 11.72}, {'connected_gene': 'SARM1', 'score': 11.68}, {'connected_gene': 'TMEM199', 'score': 11.66}, {'connected_gene': 'TNFAIP1', 'score': 11.29}, {'connected_gene': 'IFT20', 'score': 11.29}, {'connected_gene': 'FOXN1', 'score': 10.81}, {'connected_gene': 'UNC119', 'score': 10.44}, {'connected_gene': 'PIGS', 'score': 10.43}, {'connected_gene': 'GC17M029117', 'score': 0.77}, {'connected_gene': 'SLC46A1', 'score': 0.39}, {'connected_gene': 'ENSG00000279532', 'score': 0.34}]
chr17	GH17I028381	28381662	28381751	0.6	[{'connected_gene': 'SLC46A1', 'score': 11.98}, {'connected_gene': 'IFT20', 'score': 10.78}, {'connected_gene': 'PIGS', 'score': 10.16}, {'connected_gene': 'ENSG00000279532', 'score': 0.44}, {'connected_gene': 'SARM1', 'score': 0.37}, {'connected_gene': 'GC17M029117', 'score': 0.37}, {'connected_gene': 'ENSG00000258924', 'score': 0.34}]
chr17	GH17I028380	28380262	28380431	0.92	[{'connected_gene': 'ITM2BP1', 'score': 16.8}, {'connected_gene': 'ENSG00000264577', 'score': 16.73}, {'connected_gene': 'SUPT6H', 'score': 16.35}, {'connected_gene': 'NUFIP2', 'score': 15.11}, {'connected_gene': 'ENSG00000265205', 'score': 14.85}, {'connected_gene': 'ENSG00000265908', 'score': 13.86}, {'connected_gene': 'PHF12', 'score': 12.25}, {'connected_gene': 'SLC46A1', 'score': 11.98}, {'connected_gene': 'RPL23A', 'score': 11.23}, {'connected_gene': 'SDF2', 'score': 11.21}, {'connected_gene': 'TNFAIP1', 'score': 11.17}, {'connected_gene': 'IFT20', 'score': 11.17}, {'connected_gene': 'PIGS', 'score': 10.31}, {'connected_gene': 'ENSG00000279532', 'score': 0.44}, {'connected_gene': 'SARM1', 'score': 0.37}, {'connected_gene': 'GC17M029117', 'score': 0.34}, {'connected_gene': 'ENSG00000258924', 'score': 0.34}]
chr17	GH17I028277	28277811	28279000	0.95	[{'connected_gene': 'PIR58208', 'score': 550.77}, {'connected_gene': 'GC17M029101', 'score': 550.77}, {'connected_gene': 'TNFAIP1', 'score': 10.9}, {'connected_gene': 'IFT20', 'score': 10.9}, {'connected_gene': 'NOS2', 'score': 3.97}, {'connected_gene': 'PIRC93', 'score': 0.44}, {'connected_gene': 'KRT18P55', 'score': 0.28}]

Transcript ID	Transcript exon region	Coding exon region
ENST00000583796	[[26655351, 26656836]]	None
ENST00000579419	[[26655351, 26655683], [26656198, 26656302], [26657468, 26657554], [26658884, 26659013], [26659171, 26659207], [26662365, 26662465]]	[[26655655, 26655683], [26656198, 26656302], [26657468, 26657554], [26658884, 26659011]]
ENST00000578009	[[26655352, 26655759], [26657468, 26657554], [26658884, 26659002]]	[[26655747, 26655759], [26657468, 26657554], [26658884, 26659002]]
ENST00000357896	[[26655352, 26655759], [26656198, 26656302], [26657136, 26657254], [26657468, 26657554], [26658884, 26659013], [26662365, 26662495]]	[[26655747, 26655759], [26656198, 26656302], [26657136, 26657254], [26657468, 26657554], [26658884, 26659011]]
ENST00000395418	[[26655354, 26655759], [26656198, 26656302], [26657468, 26657554], [26658884, 26659013], [26662365, 26662466]]	[[26655677, 26655759], [26656198, 26656302], [26657468, 26657554], [26658884, 26659011]]
ENST00000585089	[[26655354, 26655759], [26656198, 26656302], [26657468, 26657554], [26658884, 26659013], [26659171, 26659408], [26662365, 26662475]]	[[26655677, 26655759], [26656198, 26656302], [26657468, 26657554], [26658884, 26659013], [26659171, 26659247]]
ENST00000585313	[[26655362, 26655759], [26656198, 26656302], [26657468, 26657554], [26658884, 26659013], [26659171, 26659207], [26662365, 26662465]]	[[26655677, 26655759], [26656198, 26656302], [26657468, 26657554], [26658884, 26659011]]
ENST00000578122	[[26655912, 26656094], [26656198, 26656302], [26657468, 26657554], [26658884, 26659013], [26659171, 26659408], [26662365, 26662461]]	[[26656063, 26656094], [26656198, 26656302], [26657468, 26657554], [26658884, 26659013], [26659171, 26659247]]
ENST00000578985	[[26656024, 26656302], [26657468, 26657554], [26658884, 26659013], [26659171, 26659408], [26662365, 26662466]]	[[26656194, 26656302], [26657468, 26657554], [26658884, 26659013], [26659171, 26659247]]
ENST00000582797	[[26656710, 26657554], [26658884, 26659013], [26662365, 26662496]]	None
ENST00000322326	[[26657216, 26657554], [26658884, 26659013], [26659171, 26659408], [26662365, 26662481]]	None
ENST00000577498	[[26657502, 26657554], [26658884, 26659013], [26659171, 26659408], [26659715, 26659749], [26662365, 26662470]]	[[26657502, 26657554], [26658884, 26659013], [26659171, 26659247]]
ENST00000580357	[[26658411, 26659013], [26662365, 26662515]]	None
ENST00000578547	[[26658427, 26659013], [26659171, 26659408], [26662365, 26662504]]	None
ENST00000580991	[[26658628, 26659013], [26659171, 26659207], [26662365, 26662498]]	None
NM_001267774	[[26655350, 26655759], [26656198, 26656302], [26657468, 26657554], [26658884, 26659013], [26659171, 26659408], [26662365, 26662515]]	[[26655677, 26655759], [26656198, 26656302], [26657468, 26657554], [26658884, 26659013], [26659171, 26659247]]
NM_001267775	[[26655350, 26655759], [26656198, 26656302], [26657468, 26657554], [26658884, 26659013], [26659171, 26659207], [26662365, 26662515]]	[[26655677, 26655759], [26656198, 26656302], [26657468, 26657554], [26658884, 26659011]]
NM_001267777	[[26655350, 26655683], [26656198, 26656302], [26657468, 26657554], [26658884, 26659013], [26659171, 26659207], [26662365, 26662515]]	[[26655655, 26655683], [26656198, 26656302], [26657468, 26657554], [26658884, 26659011]]
NM_174887	[[26655350, 26655759], [26656198, 26656302], [26657136, 26657254], [26657468, 26657554], [26658884, 26659013], [26662365, 26662515]]	[[26655747, 26655759], [26656198, 26656302], [26657136, 26657254], [26657468, 26657554], [26658884, 26659011]]
NM_001267776	[[26655350, 26655759], [26656198, 26656302], [26657468, 26657554], [26658884, 26659013], [26662365, 26662515]]	[[26655677, 26655759], [26656198, 26656302], [26657468, 26657554], [26658884, 26659011]]
NM_001267778	[[26655350, 26655759], [26657468, 26657554], [26658884, 26659013], [26662365, 26662515]]	[[26655747, 26655759], [26657468, 26657554], [26658884, 26659011]]