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
chr12	106976656	106976672	CAGE_peak_4_at_RFX4_5end
chr12	106976678	106976708	CAGE_peak_2_at_RFX4_5end
chr12	106976774	106976788	CAGE_peak_1_at_RFX4_5end
chr12	106976837	106976850	CAGE_peak_5_at_RFX4_5end
chr12	106994905	106994954	CAGE_peak_6_at_RFX4_5end
chr12	107078493	107078533	CAGE_peak_3_at_RFX4_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I106600	106600643	106600792	0.2	[{'connected_gene': 'TMEM263', 'score': 4.12}, {'connected_gene': 'RFX4', 'score': 0.37}, {'connected_gene': 'PIR51055', 'score': 0.18}, {'connected_gene': 'LOC100287944', 'score': 0.09}]
chr12	GH12I106753	106753187	106754273	0.63	[{'connected_gene': 'TMEM263', 'score': 5.58}, {'connected_gene': 'ENSG00000260329', 'score': 4.63}, {'connected_gene': 'GC12M106740', 'score': 0.39}, {'connected_gene': 'GC12P106769', 'score': 0.37}, {'connected_gene': 'LOC100287944', 'score': 0.34}, {'connected_gene': 'RFX4', 'score': 0.09}]
chr12	GH12I106672	106672148	106673461	0.78	[{'connected_gene': 'RFX4', 'score': 10.72}, {'connected_gene': 'POLR3B', 'score': 9.15}, {'connected_gene': 'ENSG00000260329', 'score': 7.55}, {'connected_gene': 'TMEM263', 'score': 5.61}, {'connected_gene': 'PIR51055', 'score': 0.44}, {'connected_gene': 'LOC100287944', 'score': 0.15}]
chr12	GH12I106446	106446471	106446740	0.58	[{'connected_gene': 'RFX4', 'score': 10.2}, {'connected_gene': 'GC12M106422', 'score': 0.37}, {'connected_gene': 'GC12P106417', 'score': 0.31}, {'connected_gene': 'POLR3B', 'score': 0.17}]
chr12	GH12I106587	106587143	106587518	0.67	[{'connected_gene': 'RFX4', 'score': 11.74}, {'connected_gene': 'RIC8B', 'score': 3.82}, {'connected_gene': 'MTERF2', 'score': 1.28}, {'connected_gene': 'PIR51055', 'score': 0.16}, {'connected_gene': 'LOC100287944', 'score': 0.09}]
chr12	GH12I106586	106586339	106586555	0.42	[{'connected_gene': 'RFX4', 'score': 19.68}, {'connected_gene': 'RIC8B', 'score': 1.39}, {'connected_gene': 'PIR51055', 'score': 0.16}, {'connected_gene': 'LOC100287944', 'score': 0.09}]
chr12	GH12I106518	106518972	106520331	0.43	[{'connected_gene': 'RFX4', 'score': 10.62}, {'connected_gene': 'TCP11L2', 'score': 5.79}, {'connected_gene': 'GC12P106517', 'score': 0.77}, {'connected_gene': 'LOC100287944', 'score': 0.07}]
chr12	GH12I106581	106581938	106582175	0.55	[{'connected_gene': 'RFX4', 'score': 573.4}, {'connected_gene': 'CRY1', 'score': 9.85}, {'connected_gene': 'RIC8B', 'score': 3.74}, {'connected_gene': 'MTERF2', 'score': 1.85}, {'connected_gene': 'GC12P106517', 'score': 0.21}, {'connected_gene': 'LOC100287944', 'score': 0.08}]
chr12	GH12I106584	106582186	106582252	0.46	[{'connected_gene': 'RFX4', 'score': 550.77}, {'connected_gene': 'CRY1', 'score': 9.85}, {'connected_gene': 'GC12P106517', 'score': 0.2}, {'connected_gene': 'LOC100287944', 'score': 0.08}]
chr12	GH12I106582	106582423	106583098	1.02	[{'connected_gene': 'RFX4', 'score': 550.77}, {'connected_gene': 'GC12P106517', 'score': 0.2}, {'connected_gene': 'LOC100287944', 'score': 0.08}]
chr12	GH12I106645	106645103	106645272	0.65	[{'connected_gene': 'RFX4', 'score': 10.71}, {'connected_gene': 'PIR51055', 'score': 0.28}, {'connected_gene': 'LOC100287944', 'score': 0.13}]
chr12	GH12I106601	106601083	106601252	1.06	[{'connected_gene': 'RFX4', 'score': 550.37}, {'connected_gene': 'PIR51055', 'score': 0.18}, {'connected_gene': 'LOC100287944', 'score': 0.09}]
chr12	GH12I106583	106583303	106583338	0.54	[{'connected_gene': 'RFX4', 'score': 550.77}, {'connected_gene': 'PIR51055', 'score': 0.15}, {'connected_gene': 'LOC100287944', 'score': 0.08}]
chr12	GH12I106414	106414695	106415912	0.49	[{'connected_gene': 'TCP11L2', 'score': 12.19}, {'connected_gene': 'POLR3B', 'score': 10.14}, {'connected_gene': 'RFX4', 'score': 9.99}, {'connected_gene': 'GC12P106417', 'score': 0.77}, {'connected_gene': 'GC12M106356', 'score': 0.22}]
chr12	GH12I106216	106216388	106216646	0.22	[{'connected_gene': 'RNU7-94P', 'score': 11.59}, {'connected_gene': 'TCP11L2', 'score': 9.81}, {'connected_gene': 'RFX4', 'score': 1.32}, {'connected_gene': 'PIR51001', 'score': 0.39}, {'connected_gene': 'GC12M106238', 'score': 0.34}]
chr12	GH12I106684	106684680	106684739	0.5	[{'connected_gene': 'LOC100505978', 'score': 550.77}, {'connected_gene': 'RFX4', 'score': 550.15}, {'connected_gene': 'PIR54082', 'score': 0.31}, {'connected_gene': 'GC12M106711', 'score': 0.31}, {'connected_gene': 'LOC100287944', 'score': 0.16}]
chr12	GH12I106983	106983744	106984122	0.45	[{'connected_gene': 'GC12P106984', 'score': 550.77}, {'connected_gene': 'MTERF2', 'score': 3.41}, {'connected_gene': 'RFX4', 'score': 1.67}, {'connected_gene': 'RIC8B', 'score': 1.48}, {'connected_gene': 'GC12M106953', 'score': 0.31}]
chr12	GH12I106712	106712423	106713642	0.31	[{'connected_gene': 'GC12P106712', 'score': 550.77}, {'connected_gene': 'RFX4', 'score': 10.38}, {'connected_gene': 'ENSG00000260329', 'score': 8.03}, {'connected_gene': 'RIC8B', 'score': 5.4}, {'connected_gene': 'GC12M106715', 'score': 0.39}, {'connected_gene': 'GC12M106709', 'score': 0.39}, {'connected_gene': 'LOC100287944', 'score': 0.21}]
chr12	GH12I106757	106757630	106761092	1.06	[{'connected_gene': 'ENSG00000260329', 'score': 5.38}, {'connected_gene': 'RFX4', 'score': 2.55}, {'connected_gene': 'RIC8B', 'score': 1.59}, {'connected_gene': 'GC12P106769', 'score': 0.44}, {'connected_gene': 'GC12M106740', 'score': 0.37}, {'connected_gene': 'LOC100287944', 'score': 0.37}]
chr12	GH12I106632	106632903	106633989	0.49	[{'connected_gene': 'PIR51055', 'score': 0.25}, {'connected_gene': 'RFX4', 'score': 0.23}, {'connected_gene': 'LOC100287944', 'score': 0.11}]
chr12	GH12I106417	106417962	106419717	1.25	[{'connected_gene': 'GC12P106417', 'score': 550.77}, {'connected_gene': 'POLR3B', 'score': 10.13}, {'connected_gene': 'RFX4', 'score': 9.34}, {'connected_gene': 'TCP11L2', 'score': 7.72}, {'connected_gene': 'GC12M106422', 'score': 0.26}]
chr12	GH12I106416	106416463	106416612	0.31	[{'connected_gene': 'GC12P106417', 'score': 550.77}, {'connected_gene': 'POLR3B', 'score': 10.14}, {'connected_gene': 'RFX4', 'score': 9.34}, {'connected_gene': 'GC12M106356', 'score': 0.22}]
chr12	GH12I106733	106733323	106734762	0.49	[{'connected_gene': 'ENSG00000257918', 'score': 550.77}, {'connected_gene': 'RIC8B', 'score': 10.92}, {'connected_gene': 'ENSG00000260329', 'score': 9.99}, {'connected_gene': 'TMEM263', 'score': 5.46}, {'connected_gene': 'GC12M106740', 'score': 0.44}, {'connected_gene': 'LOC100287944', 'score': 0.26}, {'connected_gene': 'RFX4', 'score': 0.1}]
chr12	GH12I106709	106709952	106711023	0.38	[{'connected_gene': 'PIR54082', 'score': 550.77}, {'connected_gene': 'GC12M106711', 'score': 550.77}, {'connected_gene': 'RIC8B', 'score': 5.43}, {'connected_gene': 'GC12M106709', 'score': 0.37}, {'connected_gene': 'LOC100505978', 'score': 0.31}, {'connected_gene': 'LOC100287944', 'score': 0.21}, {'connected_gene': 'RFX4', 'score': 0.13}]
chr12	GH12I106723	106723144	106724111	0.46	[{'connected_gene': 'GC12M106715', 'score': 550.77}, {'connected_gene': 'RIC8B', 'score': 23.26}, {'connected_gene': 'ENSG00000260329', 'score': 7.24}, {'connected_gene': 'GC12M106709', 'score': 0.77}, {'connected_gene': 'ENSG00000257918', 'score': 0.44}, {'connected_gene': 'GC12P106712', 'score': 0.39}, {'connected_gene': 'LOC100287944', 'score': 0.23}, {'connected_gene': 'RFX4', 'score': 0.11}]
chr12	GH12I106739	106739403	106739572	0.76	[{'connected_gene': 'GC12M106740', 'score': 550.77}, {'connected_gene': 'RIC8B', 'score': 12.02}, {'connected_gene': 'ENSG00000260329', 'score': 4.42}, {'connected_gene': 'ENSG00000257918', 'score': 0.44}, {'connected_gene': 'LOC100287944', 'score': 0.28}, {'connected_gene': 'RFX4', 'score': 0.1}]
chr12	GH12I106722	106722983	106723132	0.38	[{'connected_gene': 'GC12M106715', 'score': 550.77}, {'connected_gene': 'RIC8B', 'score': 23.26}, {'connected_gene': 'GC12M106709', 'score': 0.77}, {'connected_gene': 'ENSG00000257918', 'score': 0.39}, {'connected_gene': 'GC12P106712', 'score': 0.39}, {'connected_gene': 'LOC100287944', 'score': 0.23}, {'connected_gene': 'RFX4', 'score': 0.11}]
chr12	GH12I106681	106681343	106681352	0.2	[{'connected_gene': 'PIR56556', 'score': 550.77}, {'connected_gene': 'PIR51055', 'score': 550.77}, {'connected_gene': 'LOC100505978', 'score': 0.77}, {'connected_gene': 'LOC100287944', 'score': 0.16}, {'connected_gene': 'RFX4', 'score': 0.15}]
chr12	GH12I106747	106747014	106748804	0.46	[{'connected_gene': 'ENSG00000260329', 'score': 5.45}, {'connected_gene': 'GC12M106740', 'score': 0.44}, {'connected_gene': 'GC12P106769', 'score': 0.34}, {'connected_gene': 'LOC100287944', 'score': 0.31}, {'connected_gene': 'RFX4', 'score': 0.1}]

Transcript ID	Transcript exon region	Coding exon region
ENST00000392842	[[106976684, 106977141], [107002574, 107002661], [107033109, 107033170], [107048005, 107048129], [107075770, 107075832], [107080661, 107080875], [107083064, 107083142], [107090060, 107090224], [107103107, 107103208], [107105230, 107105289], [107109177, 107109322], [107113737, 107113832], [107114536, 107114654], [107125907, 107126027], [107126701, 107126863], [107141214, 107141377], [107144432, 107144571], [107154974, 107156580]]	[[106977098, 106977141], [107002574, 107002661], [107033109, 107033170], [107048005, 107048129], [107075770, 107075832], [107080661, 107080875], [107083064, 107083142], [107090060, 107090224], [107103107, 107103208], [107105230, 107105289], [107109177, 107109322], [107113737, 107113832], [107114536, 107114654], [107125907, 107126027], [107126701, 107126863], [107141214, 107141377], [107144432, 107144571], [107154974, 107155247]]
ENST00000539967	[[106979504, 106979754], [107002574, 107002661], [107033109, 107033170], [107048005, 107048129], [107075770, 107075832], [107090060, 107090224], [107103107, 107103208], [107105230, 107105289], [107109177, 107109322]]	[[107090093, 107090224], [107103107, 107103208], [107105230, 107105289], [107109177, 107109322]]
ENST00000357881	[[106994914, 106995124], [107002574, 107002661], [107033109, 107033170], [107048005, 107048129], [107075770, 107075832], [107080661, 107080875], [107083064, 107083142], [107090060, 107090224], [107103107, 107103208], [107105230, 107105289], [107109177, 107109322], [107113737, 107113832], [107114536, 107114654], [107125907, 107126027], [107126701, 107126863], [107141214, 107141377], [107144432, 107144571], [107154974, 107155437]]	[[106995054, 106995124], [107002574, 107002661], [107033109, 107033170], [107048005, 107048129], [107075770, 107075832], [107080661, 107080875], [107083064, 107083142], [107090060, 107090224], [107103107, 107103208], [107105230, 107105289], [107109177, 107109322], [107113737, 107113832], [107114536, 107114654], [107125907, 107126027], [107126701, 107126863], [107141214, 107141377], [107144432, 107144571], [107154974, 107155247]]
ENST00000536722	[[106994943, 106995124], [107002574, 107002661], [107033109, 107033170], [107048005, 107048129], [107075770, 107075832], [107080661, 107080875], [107083064, 107083142], [107090091, 107090224], [107103107, 107103208], [107105230, 107105289], [107109177, 107109305]]	[[106995054, 106995124], [107002574, 107002661], [107033109, 107033170], [107048005, 107048129], [107075770, 107075832], [107080661, 107080875], [107083064, 107083142], [107090091, 107090139]]
ENST00000536688	[[106994949, 106995124], [107002574, 107002661], [107033109, 107033170], [107048005, 107048129], [107075770, 107075832], [107080661, 107080875], [107083064, 107083142], [107090060, 107090224], [107103107, 107103208], [107105230, 107105289], [107109177, 107109322], [107113737, 107113832], [107114536, 107114654], [107125907, 107126027], [107126701, 107127284]]	None
ENST00000551640	[[107039659, 107039714], [107048005, 107048129], [107075770, 107075832], [107080661, 107080875], [107083064, 107083142], [107090060, 107090224], [107103107, 107103208]]	[[107039688, 107039714], [107048005, 107048129], [107075770, 107075832], [107080661, 107080875], [107083064, 107083142], [107090060, 107090224], [107103107, 107103208]]
ENST00000552866	[[107078473, 107078686], [107080661, 107080875], [107083064, 107083142], [107086843, 107086937]]	[[107078591, 107078686], [107080661, 107080875], [107083064, 107083142], [107086843, 107086937]]
ENST00000229387	[[107078473, 107078686], [107080661, 107080875], [107083064, 107083142], [107090060, 107090224], [107103107, 107103208], [107105230, 107105289], [107109177, 107109322], [107113737, 107113832], [107114536, 107114654], [107125907, 107126027], [107126701, 107126863], [107141214, 107141377], [107144432, 107144571], [107154974, 107156581]]	[[107078591, 107078686], [107080661, 107080875], [107083064, 107083142], [107090060, 107090224], [107103107, 107103208], [107105230, 107105289], [107109177, 107109322], [107113737, 107113832], [107114536, 107114654], [107125907, 107126027], [107126701, 107126863], [107141214, 107141377], [107144432, 107144571], [107154974, 107155247]]
ENST00000552917	[[107078585, 107078686], [107080684, 107080875], [107083064, 107083142], [107090060, 107090224], [107103107, 107103167]]	[[107078591, 107078686], [107080684, 107080709]]
ENST00000546882	[[106976810, 106977141], [107033109, 107033170], [107048005, 107048129], [107055958, 107056040], [107075770, 107075832]]	[[106977098, 106977141], [107033109, 107033170], [107048005, 107048129], [107055958, 107055964]]
ENST00000549040	[[106977422, 106977512], [107002574, 107002661], [107033109, 107033170], [107048005, 107048129], [107075770, 107075832], [107080661, 107080710]]	[[107048063, 107048129], [107075770, 107075832], [107080661, 107080710]]
ENST00000552773	[[107033109, 107033170], [107048005, 107048129], [107075770, 107077244]]	None
NM_213594	[[106976684, 106977141], [107002574, 107002661], [107033109, 107033170], [107048005, 107048129], [107075770, 107075832], [107080661, 107080875], [107083064, 107083142], [107090060, 107090224], [107103107, 107103208], [107105230, 107105289], [107109177, 107109322], [107113737, 107113832], [107114536, 107114654], [107125907, 107126027], [107126701, 107126863], [107141214, 107141377], [107144432, 107144571], [107154974, 107156582]]	[[106977098, 106977141], [107002574, 107002661], [107033109, 107033170], [107048005, 107048129], [107075770, 107075832], [107080661, 107080875], [107083064, 107083142], [107090060, 107090224], [107103107, 107103208], [107105230, 107105289], [107109177, 107109322], [107113737, 107113832], [107114536, 107114654], [107125907, 107126027], [107126701, 107126863], [107141214, 107141377], [107144432, 107144571], [107154974, 107155247]]
NM_001206691	[[106994914, 106995124], [107002574, 107002661], [107033109, 107033170], [107048005, 107048129], [107075770, 107075832], [107080661, 107080875], [107083064, 107083142], [107090060, 107090224], [107103107, 107103208], [107105230, 107105289], [107109177, 107109322], [107113737, 107113832], [107114536, 107114654], [107125907, 107126027], [107126701, 107126863], [107141214, 107141377], [107144432, 107144571], [107154974, 107156582]]	[[106995054, 106995124], [107002574, 107002661], [107033109, 107033170], [107048005, 107048129], [107075770, 107075832], [107080661, 107080875], [107083064, 107083142], [107090060, 107090224], [107103107, 107103208], [107105230, 107105289], [107109177, 107109322], [107113737, 107113832], [107114536, 107114654], [107125907, 107126027], [107126701, 107126863], [107141214, 107141377], [107144432, 107144571], [107154974, 107155247]]
NM_032491	[[107078476, 107078686], [107080661, 107080875], [107083064, 107083142], [107090060, 107090224], [107103107, 107103208], [107105230, 107105289], [107109177, 107109322], [107113737, 107113832], [107114536, 107114654], [107125907, 107126027], [107126701, 107126863], [107141214, 107141377], [107144432, 107144571], [107154974, 107156582]]	[[107078591, 107078686], [107080661, 107080875], [107083064, 107083142], [107090060, 107090224], [107103107, 107103208], [107105230, 107105289], [107109177, 107109322], [107113737, 107113832], [107114536, 107114654], [107125907, 107126027], [107126701, 107126863], [107141214, 107141377], [107144432, 107144571], [107154974, 107155247]]