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
ENST00000459993	[[56654160, 56657594], [56658506, 56658671], [56658855, 56659034], [56661064, 56661173], [56661609, 56661769], [56662519, 56662642], [56667071, 56668000]]	None
ENST00000431842	[[56654572, 56657594], [56658506, 56658671], [56658855, 56659034], [56661064, 56661173], [56661609, 56661769], [56662519, 56662642], [56667071, 56667871], [56672733, 56672793], [56674013, 56674158], [56675376, 56675780], [56680549, 56681251], [56682849, 56682921], [56683012, 56683085], [56694758, 56694862], [56694941, 56695045], [56696412, 56696518], [56697568, 56698359]]	[[56657064, 56657594], [56658506, 56658671], [56658855, 56659034], [56661064, 56661173], [56661609, 56661769], [56662519, 56662642], [56667071, 56667871], [56672733, 56672793], [56674013, 56674158], [56675376, 56675780], [56680549, 56681251], [56682849, 56682921], [56683012, 56683085], [56694758, 56694862], [56694941, 56695017]]
ENST00000493960	[[56656765, 56657871], [56658506, 56658671], [56658855, 56659034], [56661064, 56661173], [56661609, 56661769], [56662519, 56662642], [56667071, 56667994], [56672733, 56672793], [56674013, 56674158], [56675376, 56675780], [56680549, 56681251], [56682849, 56682921], [56683012, 56683085], [56694758, 56694862], [56694941, 56695045], [56696412, 56696518], [56697568, 56697600], [56700287, 56700412], [56702424, 56702586], [56703727, 56703819], [56704100, 56704173], [56705627, 56705720], [56707607, 56707753], [56716703, 56717045]]	[[56657815, 56657871], [56658506, 56658671], [56658855, 56659034], [56661064, 56661173], [56661609, 56661769], [56662519, 56662642], [56667071, 56667994], [56672733, 56672793], [56674013, 56674158], [56675376, 56675780], [56680549, 56681251], [56682849, 56682921], [56683012, 56683085], [56694758, 56694862], [56694941, 56695045], [56696412, 56696518], [56697568, 56697600], [56700287, 56700412], [56702424, 56702586], [56703727, 56703819], [56704100, 56704173], [56705627, 56705720], [56707607, 56707753], [56716703, 56717034]]
ENST00000355628	[[56656886, 56657594], [56658506, 56658671], [56658855, 56659034], [56661064, 56661173], [56661609, 56661769], [56662519, 56662642], [56667071, 56667871], [56674013, 56674158], [56675376, 56675780], [56680549, 56681251], [56682849, 56682921], [56683012, 56683085], [56694758, 56694862], [56694941, 56695045], [56696412, 56696518], [56697568, 56697600], [56700287, 56700412], [56702424, 56702586], [56703727, 56703819], [56704100, 56704173], [56705627, 56705720], [56707607, 56707753], [56716703, 56717265]]	[[56657064, 56657594], [56658506, 56658671], [56658855, 56659034], [56661064, 56661173], [56661609, 56661769], [56662519, 56662642], [56667071, 56667871], [56674013, 56674158], [56675376, 56675780], [56680549, 56681251], [56682849, 56682921], [56683012, 56683085], [56694758, 56694862], [56694941, 56695045], [56696412, 56696518], [56697568, 56697600], [56700287, 56700412], [56702424, 56702586], [56703727, 56703819], [56704100, 56704173], [56705627, 56705720], [56707607, 56707753], [56716703, 56717034]]
ENST00000485156	[[56657144, 56657871], [56658506, 56658671], [56661064, 56661098]]	None
ENST00000487036	[[56658862, 56659034], [56661064, 56661173], [56661609, 56661769], [56662519, 56662668]]	None
ENST00000461863	[[56661676, 56661769], [56662519, 56662642], [56662771, 56663131]]	None
ENST00000478052	[[56694996, 56695045], [56697568, 56697600], [56700287, 56700412], [56702424, 56702517]]	None
ENST00000477406	[[56705379, 56705720], [56707607, 56707701]]	None
NM_015224	[[56654159, 56657594], [56658506, 56658671], [56658855, 56659034], [56661064, 56661173], [56661609, 56661769], [56662519, 56662642], [56667071, 56667871], [56672733, 56672793], [56674013, 56674158], [56675376, 56675780], [56680549, 56681251], [56682849, 56682921], [56683012, 56683085], [56694758, 56694862], [56694941, 56695045], [56696412, 56696518], [56697568, 56698074]]	[[56657064, 56657594], [56658506, 56658671], [56658855, 56659034], [56661064, 56661173], [56661609, 56661769], [56662519, 56662642], [56667071, 56667871], [56672733, 56672793], [56674013, 56674158], [56675376, 56675780], [56680549, 56681251], [56682849, 56682921], [56683012, 56683085], [56694758, 56694862], [56694941, 56695017]]
NM_001112736	[[56654159, 56657871], [56658506, 56658671], [56658855, 56659034], [56661064, 56661173], [56661609, 56661769], [56662519, 56662642], [56667071, 56667994], [56672733, 56672793], [56674013, 56674158], [56675376, 56675780], [56680549, 56681251], [56682849, 56682921], [56683012, 56683085], [56694758, 56694862], [56694941, 56695045], [56696412, 56696518], [56697568, 56697600], [56700287, 56700412], [56702424, 56702586], [56703727, 56703819], [56704100, 56704173], [56705627, 56705720], [56707607, 56707753], [56716703, 56717135]]	[[56657815, 56657871], [56658506, 56658671], [56658855, 56659034], [56661064, 56661173], [56661609, 56661769], [56662519, 56662642], [56667071, 56667994], [56672733, 56672793], [56674013, 56674158], [56675376, 56675780], [56680549, 56681251], [56682849, 56682921], [56683012, 56683085], [56694758, 56694862], [56694941, 56695045], [56696412, 56696518], [56697568, 56697600], [56700287, 56700412], [56702424, 56702586], [56703727, 56703819], [56704100, 56704173], [56705627, 56705720], [56707607, 56707753], [56716703, 56717034]]

Promoter

Chrom	Start	End	Description
chr3	56717246	56717324	CAGE_peak_1_at_FAM208A_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr3	GH03I056757	56757987	56760315	1.28	[{'connected_gene': 'ARHGEF3', 'score': 10.0}, {'connected_gene': 'CCDC66', 'score': 8.41}, {'connected_gene': 'FAM208A', 'score': 4.32}, {'connected_gene': 'GC03P056724', 'score': 0.29}, {'connected_gene': 'GC03M056906', 'score': 0.11}]
chr3	GH03I057594	57594549	57600593	2.3	[{'connected_gene': 'ARF4', 'score': 565.34}, {'connected_gene': 'GC03P057599', 'score': 550.77}, {'connected_gene': 'ARF4-AS1', 'score': 550.77}, {'connected_gene': 'DENND6A', 'score': 23.78}, {'connected_gene': 'FAM208A', 'score': 20.42}, {'connected_gene': 'DENND6A-AS1', 'score': 11.53}, {'connected_gene': 'PDE12', 'score': 11.29}, {'connected_gene': 'DENND6A-DT', 'score': 10.73}, {'connected_gene': 'APPL1', 'score': 9.85}, {'connected_gene': 'HESX1', 'score': 9.85}, {'connected_gene': 'FLNB', 'score': 9.84}, {'connected_gene': 'DNAH12', 'score': 5.55}, {'connected_gene': 'ABHD6', 'score': 5.46}, {'connected_gene': 'IL17RD', 'score': 4.7}]
chr3	GH03I057158	57158551	57162597	1.1	[{'connected_gene': 'CCDC66', 'score': 15.47}, {'connected_gene': 'FAM208A', 'score': 11.79}, {'connected_gene': 'IL17RD', 'score': 11.42}, {'connected_gene': 'APPL1', 'score': 10.61}, {'connected_gene': 'HESX1', 'score': 10.61}, {'connected_gene': 'ASB14', 'score': 10.26}, {'connected_gene': 'DNAH12', 'score': 10.19}, {'connected_gene': 'SLMAP', 'score': 4.02}, {'connected_gene': 'LOC105377101', 'score': 0.44}]
chr3	GH03I056779	56779478	56792871	1.68	[{'connected_gene': 'CCDC66', 'score': 22.13}, {'connected_gene': 'FAM208A', 'score': 12.28}, {'connected_gene': 'ARHGEF3', 'score': 8.64}, {'connected_gene': 'GC03P056724', 'score': 0.21}, {'connected_gene': 'GC03M056906', 'score': 0.13}]
chr3	GH03I056750	56750768	56752058	0.2	[{'connected_gene': 'CCDC66', 'score': 8.46}, {'connected_gene': 'FAM208A', 'score': 5.11}, {'connected_gene': 'GC03P056724', 'score': 0.31}, {'connected_gene': 'GC03M056906', 'score': 0.1}, {'connected_gene': 'ARHGEF3', 'score': 0.05}]
chr3	GH03I056921	56921305	56927423	1.38	[{'connected_gene': 'CCDC66', 'score': 19.54}, {'connected_gene': 'FAM208A', 'score': 16.8}, {'connected_gene': 'DENND6A', 'score': 15.75}, {'connected_gene': 'APPL1', 'score': 12.27}, {'connected_gene': 'ARHGEF3', 'score': 12.2}, {'connected_gene': 'PDE12', 'score': 10.88}, {'connected_gene': 'GC03M056906', 'score': 0.37}, {'connected_gene': 'ARHGEF3-AS1', 'score': 0.37}]
chr3	GH03I056976	56976253	56978134	0.99	[{'connected_gene': 'CCDC66', 'score': 19.56}, {'connected_gene': 'FAM208A', 'score': 19.54}, {'connected_gene': 'DENND6A', 'score': 10.16}, {'connected_gene': 'ARHGEF3-AS1', 'score': 0.28}, {'connected_gene': 'SPATA12', 'score': 0.18}, {'connected_gene': 'ARHGEF3', 'score': 0.15}]
chr3	GH03I056691	56691077	56691768	0.65	[{'connected_gene': 'CCDC66', 'score': 14.62}, {'connected_gene': 'FAM208A', 'score': 0.44}, {'connected_gene': 'GC03M056697', 'score': 0.44}]
chr3	GH03I056631	56631318	56631514	0.33	[{'connected_gene': 'CCDC66', 'score': 16.84}, {'connected_gene': 'FAM208A', 'score': 1.99}]
chr3	GH03I056628	56628740	56629974	0.38	[{'connected_gene': 'CCDC66', 'score': 19.6}, {'connected_gene': 'FAM208A', 'score': 0.23}]
chr3	GH03I056590	56590001	56593081	0.4	[{'connected_gene': 'CCDC66', 'score': 20.28}, {'connected_gene': 'FAM208A', 'score': 19.18}, {'connected_gene': 'GC03P056532', 'score': 0.22}]
chr3	GH03I056556	56556201	56558587	1.96	[{'connected_gene': 'CCDC66', 'score': 596.74}, {'connected_gene': 'FAM208A', 'score': 17.23}, {'connected_gene': 'GC03P056532', 'score': 0.31}]
chr3	GH03I057225	57225893	57229910	2.04	[{'connected_gene': 'APPL1', 'score': 556.25}, {'connected_gene': 'HESX1', 'score': 550.77}, {'connected_gene': 'GC03M057226', 'score': 550.77}, {'connected_gene': 'FAM208A', 'score': 9.87}, {'connected_gene': 'GC03P057230', 'score': 0.77}, {'connected_gene': 'GC03P057200', 'score': 0.31}]
chr3	GH03I056467	56467000	56468801	1.79	[{'connected_gene': 'ERC2', 'score': 550.77}, {'connected_gene': 'FAM208A', 'score': 22.43}, {'connected_gene': 'CCDC66', 'score': 15.72}, {'connected_gene': 'LOC105377099', 'score': 0.29}]
chr3	GH03I056692	56692601	56696116	0.86	[{'connected_gene': 'FAM208A', 'score': 19.4}, {'connected_gene': 'CCDC66', 'score': 17.55}, {'connected_gene': 'GC03M056697', 'score': 0.44}]
chr3	GH03I056680	56680840	56683891	2.03	[{'connected_gene': 'FAM208A', 'score': 590.48}, {'connected_gene': 'CCDC66', 'score': 47.64}]
chr3	GH03I057555	57555074	57558445	2.11	[{'connected_gene': 'PDE12', 'score': 561.62}, {'connected_gene': 'GC03M057554', 'score': 550.77}, {'connected_gene': 'DENND6A', 'score': 25.93}, {'connected_gene': 'APPL1', 'score': 22.1}, {'connected_gene': 'CCDC66', 'score': 16.81}, {'connected_gene': 'FAM208A', 'score': 16.28}, {'connected_gene': 'FLNB-AS1', 'score': 14.35}, {'connected_gene': 'FLNB', 'score': 13.57}, {'connected_gene': 'DENND6A-DT', 'score': 10.21}, {'connected_gene': 'HESX1', 'score': 9.88}, {'connected_gene': 'ARF4', 'score': 9.16}, {'connected_gene': 'ENSG00000272202', 'score': 4.59}, {'connected_gene': 'GC03P057599', 'score': 0.26}]