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
ENST00000296511	[[122589109, 122589682], [122590756, 122590879], [122591108, 122591167], [122592701, 122592797], [122593687, 122593781], [122599048, 122599105], [122599569, 122599649], [122602825, 122602916], [122604518, 122604632], [122605831, 122605926], [122607442, 122607527], [122617735, 122617779], [122618017, 122618268]]	[[122589622, 122589682], [122590756, 122590879], [122591108, 122591167], [122592701, 122592797], [122593687, 122593781], [122599048, 122599105], [122599569, 122599649], [122602825, 122602916], [122604518, 122604632], [122605831, 122605926], [122607442, 122607527], [122617735, 122617744]]
ENST00000501272	[[122589181, 122589682], [122590756, 122590879], [122591108, 122591167], [122592701, 122592797], [122593687, 122593781], [122599048, 122599105], [122599569, 122599649], [122602825, 122602916], [122604518, 122604632], [122617735, 122617779], [122618017, 122618121]]	[[122589622, 122589682], [122590756, 122590879], [122591108, 122591167], [122592701, 122592797], [122593687, 122593781], [122599048, 122599105], [122599569, 122599649], [122602825, 122602916], [122604518, 122604632], [122617735, 122617744]]
ENST00000506395	[[122589181, 122589682], [122590756, 122590879], [122591108, 122591167], [122592701, 122592797], [122593687, 122593781], [122599048, 122599105], [122599506, 122599649], [122602825, 122602916], [122604518, 122604632], [122605831, 122605926], [122607442, 122607527], [122617735, 122617779], [122618017, 122618121]]	[[122599551, 122599649], [122602825, 122602916], [122604518, 122604632], [122605831, 122605926], [122607442, 122607527], [122617735, 122617744]]
ENST00000515017	[[122589230, 122589682], [122590756, 122590879], [122591108, 122591167], [122592701, 122592797], [122593687, 122593781], [122599048, 122599105], [122599569, 122599649], [122607442, 122607527], [122617735, 122617779], [122618017, 122618117]]	[[122589622, 122589682], [122590756, 122590879], [122591108, 122591167], [122592701, 122592797], [122593687, 122593781], [122599048, 122599105], [122599569, 122599649], [122607442, 122607527], [122617735, 122617744]]
ENST00000509648	[[122589400, 122589682], [122590756, 122590879], [122591108, 122591167], [122592701, 122592797], [122593687, 122593781], [122599048, 122599477]]	None
ENST00000515717	[[122590466, 122590879], [122591108, 122591167], [122592701, 122592797], [122593687, 122593713]]	None
ENST00000511552	[[122592772, 122592797], [122593687, 122593781], [122599048, 122599105], [122599569, 122599649], [122602825, 122602916], [122604518, 122604632], [122605831, 122605926], [122607442, 122607527], [122617735, 122618130]]	None
ENST00000509016	[[122599608, 122599649], [122602825, 122602916], [122604518, 122604632], [122605831, 122605926], [122607442, 122607527], [122618017, 122618147]]	None
ENST00000513428	[[122602516, 122602916], [122604518, 122604632], [122605831, 122605926], [122607442, 122607527], [122617735, 122617779], [122618017, 122618147]]	None
ENST00000513523	[[122602710, 122602916], [122604518, 122604632], [122607442, 122607527], [122617735, 122617779], [122618017, 122618150]]	None
ENST00000513728	[[122602825, 122602916], [122604518, 122604632], [122607442, 122607527], [122617735, 122617779], [122618017, 122618130]]	[[122604618, 122604632], [122607442, 122607527], [122617735, 122617744]]
NM_001154	[[122589151, 122589682], [122590756, 122590879], [122591108, 122591167], [122592701, 122592797], [122593687, 122593781], [122599048, 122599105], [122599569, 122599649], [122602825, 122602916], [122604518, 122604632], [122605831, 122605926], [122607442, 122607527], [122617735, 122617779], [122618017, 122618147]]	[[122589622, 122589682], [122590756, 122590879], [122591108, 122591167], [122592701, 122592797], [122593687, 122593781], [122599048, 122599105], [122599569, 122599649], [122602825, 122602916], [122604518, 122604632], [122605831, 122605926], [122607442, 122607527], [122617735, 122617744]]

Promoter

Chrom	Start	End	Description
chr4	122593722	122593755	CAGE_peak_6_at_ANXA5_5end
chr4	122599595	122599623	CAGE_peak_3_at_ANXA5_5end
chr4	122607501	122607534	CAGE_peak_5_at_ANXA5_5end
chr4	122617754	122617792	CAGE_peak_2_at_ANXA5_5end
chr4	122618095	122618161	CAGE_peak_1_at_ANXA5_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr4	GH04I121739	121738766	121740478	0.66	[{'connected_gene': 'BBS7', 'score': 10.09}, {'connected_gene': 'EXOSC9', 'score': 4.46}, {'connected_gene': 'PP12613', 'score': 0.34}, {'connected_gene': 'ANXA5', 'score': 0.26}]
chr4	GH04I121655	121655019	121656336	0.66	[{'connected_gene': 'ANXA5', 'score': 11.46}, {'connected_gene': 'SETP12', 'score': 11.43}, {'connected_gene': 'EXOSC9', 'score': 11.36}, {'connected_gene': 'ENSG00000237868', 'score': 11.2}, {'connected_gene': 'LOC105377402', 'score': 0.44}, {'connected_gene': 'GC04M121669', 'score': 0.39}, {'connected_gene': 'GC04M121668', 'score': 0.39}]
chr4	GH04I121727	121727260	121729521	0.92	[{'connected_gene': 'ANXA5', 'score': 25.2}, {'connected_gene': 'PP12613', 'score': 11.41}, {'connected_gene': 'TMEM155', 'score': 11.41}, {'connected_gene': 'QRFPR', 'score': 9.93}]
chr4	GH04I121674	121674873	121678224	1.03	[{'connected_gene': 'ANXA5', 'score': 42.69}, {'connected_gene': 'PP12613', 'score': 10.19}, {'connected_gene': 'TMEM155', 'score': 10.19}, {'connected_gene': 'ENSG00000237868', 'score': 4.83}, {'connected_gene': 'GC04M121669', 'score': 0.44}, {'connected_gene': 'GC04M121668', 'score': 0.44}]
chr4	GH04I121710	121710261	121713088	1.38	[{'connected_gene': 'ANXA5', 'score': 12.86}, {'connected_gene': 'PP12613', 'score': 10.84}, {'connected_gene': 'TMEM155', 'score': 10.84}]
chr4	GH04I121726	121726601	121727218	0.97	[{'connected_gene': 'ANXA5', 'score': 25.24}, {'connected_gene': 'PP12613', 'score': 11.19}, {'connected_gene': 'TMEM155', 'score': 11.19}]
chr4	GH04I121717	121717266	121718815	0.69	[{'connected_gene': 'ANXA5', 'score': 12.81}, {'connected_gene': 'PP12613', 'score': 11.39}, {'connected_gene': 'TMEM155', 'score': 11.39}]
chr4	GH04I121706	121706786	121706935	0.84	[{'connected_gene': 'ANXA5', 'score': 0.44}, {'connected_gene': 'PP12613', 'score': 0.22}]
chr4	GH04I121698	121698386	121698535	0.4	[{'connected_gene': 'ANXA5', 'score': 550.77}, {'connected_gene': 'PP12613', 'score': 0.2}]
chr4	GH04I121679	121679213	121681808	0.38	[{'connected_gene': 'ANXA5', 'score': 30.7}, {'connected_gene': 'GC04M121669', 'score': 0.39}, {'connected_gene': 'GC04M121668', 'score': 0.39}]
chr4	GH04I121694	121694782	121698372	2.18	[{'connected_gene': 'ANXA5', 'score': 576.55}, {'connected_gene': 'GC04M121669', 'score': 0.31}, {'connected_gene': 'GC04M121668', 'score': 0.31}]
chr4	GH04I121693	121693065	121694089	0.2	[{'connected_gene': 'ANXA5', 'score': 10.89}, {'connected_gene': 'GC04M121669', 'score': 0.31}, {'connected_gene': 'GC04M121668', 'score': 0.31}]
chr4	GH04I121686	121686263	121686916	0.58	[{'connected_gene': 'ANXA5', 'score': 21.25}, {'connected_gene': 'GC04M121669', 'score': 0.37}, {'connected_gene': 'GC04M121668', 'score': 0.37}]
chr4	GH04I121685	121685177	121685729	0.62	[{'connected_gene': 'ANXA5', 'score': 4.14}, {'connected_gene': 'GC04M121669', 'score': 0.37}, {'connected_gene': 'GC04M121668', 'score': 0.37}]
chr4	GH04I121688	121688146	121692791	1.49	[{'connected_gene': 'ANXA5', 'score': 33.47}, {'connected_gene': 'GC04M121669', 'score': 0.34}, {'connected_gene': 'GC04M121668', 'score': 0.34}]
chr4	GH04I121738	121738468	121738530	0.2	[{'connected_gene': 'PP12613', 'score': 0.31}, {'connected_gene': 'ANXA5', 'score': 0.26}]
chr4	GH04I121763	121763960	121764019	0.61	[{'connected_gene': 'PP12613', 'score': 550.77}, {'connected_gene': 'TMEM155', 'score': 550.77}, {'connected_gene': 'ANXA5', 'score': 0.2}]
chr4	GH04I121667	121667534	121671044	0.66	[{'connected_gene': 'GC04M121669', 'score': 550.77}, {'connected_gene': 'GC04M121668', 'score': 550.77}, {'connected_gene': 'ANXA5', 'score': 40.34}, {'connected_gene': 'PP12613', 'score': 10.51}, {'connected_gene': 'TMEM155', 'score': 10.51}, {'connected_gene': 'ENSG00000237868', 'score': 4.81}]