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
ENST00000450074	[[18488136, 18488313], [18491465, 18491700], [18492868, 18492926], [18496293, 18496380], [18505076, 18505313], [18505578, 18505664], [18506431, 18506576], [18507016, 18507175]]	[[18491479, 18491700], [18492868, 18492926], [18496293, 18496380], [18505076, 18505313], [18505578, 18505664], [18506431, 18506576], [18507016, 18507175]]
ENST00000262544	[[18488198, 18488674], [18491465, 18491700], [18492868, 18492926], [18496293, 18496380], [18505076, 18505313], [18505578, 18505664], [18506431, 18506576], [18507016, 18507175], [18508139, 18508255], [18511323, 18511447], [18513307, 18513388], [18516296, 18516386], [18522939, 18523046], [18523662, 18523816], [18526599, 18526677], [18529252, 18529414], [18531732, 18531819], [18534878, 18535034], [18535751, 18535817], [18541294, 18541766]]	[[18491479, 18491700], [18492868, 18492926], [18496293, 18496380], [18505076, 18505313], [18505578, 18505664], [18506431, 18506576], [18507016, 18507175], [18508139, 18508255], [18511323, 18511447], [18513307, 18513388], [18516296, 18516386], [18522939, 18523046], [18523662, 18523816], [18526599, 18526677], [18529252, 18529414], [18531732, 18531819], [18534878, 18535034], [18535751, 18535817], [18541294, 18541384]]
ENST00000336714	[[18488198, 18488616], [18491465, 18491700], [18492868, 18492926], [18496293, 18496380], [18505076, 18505313], [18505578, 18505664], [18506431, 18506576], [18507016, 18507175], [18508139, 18508255], [18511323, 18511447], [18513307, 18513388], [18516296, 18516386], [18522939, 18523046], [18523662, 18523816], [18526599, 18526677], [18529252, 18529414], [18531732, 18531819], [18534878, 18535034], [18535751, 18535817], [18541294, 18542059]]	[[18491479, 18491700], [18492868, 18492926], [18496293, 18496380], [18505076, 18505313], [18505578, 18505664], [18506431, 18506576], [18507016, 18507175], [18508139, 18508255], [18511323, 18511447], [18513307, 18513388], [18516296, 18516386], [18522939, 18523046], [18523662, 18523816], [18526599, 18526677], [18529252, 18529414], [18531732, 18531819], [18534878, 18535034], [18535751, 18535817], [18541294, 18541384]]
ENST00000377475	[[18488222, 18488634], [18491465, 18491700], [18492868, 18492926], [18496293, 18496380], [18505076, 18505313], [18505578, 18505664], [18506431, 18506576], [18507016, 18507175], [18508139, 18508255], [18511323, 18511447], [18513307, 18513388], [18516296, 18516386], [18522939, 18523046], [18523662, 18523816], [18526599, 18526677], [18529252, 18529414], [18531732, 18531819], [18534878, 18535034], [18535751, 18535817], [18541294, 18542059]]	[[18491479, 18491700], [18492868, 18492926], [18496293, 18496380], [18505076, 18505313], [18505578, 18505664], [18506431, 18506576], [18507016, 18507175], [18508139, 18508255], [18511323, 18511447], [18513307, 18513388], [18516296, 18516386], [18522939, 18523046], [18523662, 18523816], [18526599, 18526677], [18529252, 18529414], [18531732, 18531819], [18534878, 18535034], [18535751, 18535817], [18541294, 18541384]]
ENST00000474619	[[18488576, 18488698], [18491465, 18491575]]	None
ENST00000377465	[[18488705, 18488941], [18491465, 18491700], [18492868, 18492926], [18496293, 18496380], [18505076, 18505313], [18505578, 18505664], [18506431, 18506576], [18507016, 18507175], [18508139, 18508255], [18511323, 18511447], [18513307, 18513388], [18516296, 18516386], [18522939, 18523046], [18523662, 18523816], [18526599, 18526677], [18529252, 18529414], [18531732, 18531819], [18534878, 18535034], [18535751, 18535817], [18541294, 18542059]]	[[18491479, 18491700], [18492868, 18492926], [18496293, 18496380], [18505076, 18505313], [18505578, 18505664], [18506431, 18506576], [18507016, 18507175], [18508139, 18508255], [18511323, 18511447], [18513307, 18513388], [18516296, 18516386], [18522939, 18523046], [18523662, 18523816], [18526599, 18526677], [18529252, 18529414], [18531732, 18531819], [18534878, 18535034], [18535751, 18535817], [18541294, 18541384]]
ENST00000494645	[[18491620, 18491700], [18492868, 18492926], [18496293, 18496628]]	None
ENST00000422877	[[18523011, 18523046], [18523662, 18523816], [18526599, 18526677], [18529252, 18529414], [18534878, 18535034], [18535751, 18535817], [18541294, 18541477]]	[[18523011, 18523046], [18523662, 18523816], [18526599, 18526677], [18529252, 18529414], [18534878, 18535034], [18535751, 18535817], [18541294, 18541384]]
NM_032986	[[18488187, 18488313], [18491465, 18491700], [18492868, 18492926], [18496293, 18496380], [18505076, 18505313], [18505578, 18505664], [18506431, 18506576], [18507016, 18507175], [18508139, 18508255], [18511323, 18511447], [18513307, 18513388], [18516296, 18516386], [18522939, 18523046], [18523662, 18523816], [18526599, 18526677], [18529252, 18529414], [18531732, 18531819], [18534878, 18535034], [18535751, 18535817], [18541294, 18542050]]	[[18491479, 18491700], [18492868, 18492926], [18496293, 18496380], [18505076, 18505313], [18505578, 18505664], [18506431, 18506576], [18507016, 18507175], [18508139, 18508255], [18511323, 18511447], [18513307, 18513388], [18516296, 18516386], [18522939, 18523046], [18523662, 18523816], [18526599, 18526677], [18529252, 18529414], [18531732, 18531819], [18534878, 18535034], [18535751, 18535817], [18541294, 18541384]]
NM_006363	[[18488187, 18488616], [18491465, 18491700], [18492868, 18492926], [18496293, 18496380], [18505076, 18505313], [18505578, 18505664], [18506431, 18506576], [18507016, 18507175], [18508139, 18508255], [18511323, 18511447], [18513307, 18513388], [18516296, 18516386], [18522939, 18523046], [18523662, 18523816], [18526599, 18526677], [18529252, 18529414], [18531732, 18531819], [18534878, 18535034], [18535751, 18535817], [18541294, 18542050]]	[[18491479, 18491700], [18492868, 18492926], [18496293, 18496380], [18505076, 18505313], [18505578, 18505664], [18506431, 18506576], [18507016, 18507175], [18508139, 18508255], [18511323, 18511447], [18513307, 18513388], [18516296, 18516386], [18522939, 18523046], [18523662, 18523816], [18526599, 18526677], [18529252, 18529414], [18531732, 18531819], [18534878, 18535034], [18535751, 18535817], [18541294, 18541384]]
NM_032985	[[18488187, 18488634], [18491465, 18491700], [18492868, 18492926], [18496293, 18496380], [18505076, 18505313], [18505578, 18505664], [18506431, 18506576], [18507016, 18507175], [18508139, 18508255], [18511323, 18511447], [18513307, 18513388], [18516296, 18516386], [18522939, 18523046], [18523662, 18523816], [18526599, 18526677], [18529252, 18529414], [18531732, 18531819], [18534878, 18535034], [18535751, 18535817], [18541294, 18542050]]	[[18491479, 18491700], [18492868, 18492926], [18496293, 18496380], [18505076, 18505313], [18505578, 18505664], [18506431, 18506576], [18507016, 18507175], [18508139, 18508255], [18511323, 18511447], [18513307, 18513388], [18516296, 18516386], [18522939, 18523046], [18523662, 18523816], [18526599, 18526677], [18529252, 18529414], [18531732, 18531819], [18534878, 18535034], [18535751, 18535817], [18541294, 18541384]]
NM_001172746	[[18488209, 18488634], [18491465, 18491700], [18492868, 18492926], [18496293, 18496380], [18505130, 18505313], [18505578, 18505664], [18506431, 18506576], [18507016, 18507175], [18508139, 18508255], [18511323, 18511447], [18513307, 18513388], [18516296, 18516386], [18522939, 18523046], [18523662, 18523816], [18526599, 18526677], [18529252, 18529414], [18531732, 18531819], [18534878, 18535034], [18535751, 18535817], [18541294, 18542059]]	[[18491479, 18491700], [18492868, 18492926], [18496293, 18496380], [18505130, 18505313], [18505578, 18505664], [18506431, 18506576], [18507016, 18507175], [18508139, 18508255], [18511323, 18511447], [18513307, 18513388], [18516296, 18516386], [18522939, 18523046], [18523662, 18523816], [18526599, 18526677], [18529252, 18529414], [18531732, 18531819], [18534878, 18535034], [18535751, 18535817], [18541294, 18541384]]
NM_001172745	[[18488606, 18488941], [18491465, 18491700], [18492868, 18492926], [18496293, 18496380], [18505076, 18505313], [18505578, 18505664], [18506431, 18506576], [18507016, 18507175], [18508139, 18508255], [18511323, 18511447], [18513307, 18513388], [18516296, 18516386], [18522939, 18523046], [18523662, 18523816], [18526599, 18526677], [18529252, 18529414], [18531732, 18531819], [18534878, 18535034], [18535751, 18535817], [18541294, 18542059]]	[[18491479, 18491700], [18492868, 18492926], [18496293, 18496380], [18505076, 18505313], [18505578, 18505664], [18506431, 18506576], [18507016, 18507175], [18508139, 18508255], [18511323, 18511447], [18513307, 18513388], [18516296, 18516386], [18522939, 18523046], [18523662, 18523816], [18526599, 18526677], [18529252, 18529414], [18531732, 18531819], [18534878, 18535034], [18535751, 18535817], [18541294, 18541384]]

Promoter

Chrom	Start	End	Description
chr20	18488177	18488255	CAGE_peak_2_at_SEC23B_5end
chr20	18488258	18488273	CAGE_peak_3_at_SEC23B_5end
chr20	18488528	18488593	CAGE_peak_1_at_SEC23B_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr20	GH20I018645	18645251	18646824	0.46	[{'connected_gene': 'DTD1', 'score': 13.9}, {'connected_gene': 'SEC23B', 'score': 11.92}, {'connected_gene': 'DUXAP7', 'score': 0.77}, {'connected_gene': 'LOC101929526', 'score': 0.23}]
chr20	GH20I018587	18587317	18589229	2.01	[{'connected_gene': 'DTD1', 'score': 561.25}, {'connected_gene': 'LOC100270804', 'score': 20.78}, {'connected_gene': 'SMIM26', 'score': 13.44}, {'connected_gene': 'ZNF133', 'score': 13.44}, {'connected_gene': 'SEC23B', 'score': 6.38}, {'connected_gene': 'RN7SL638P', 'score': 0.77}]
chr20	GH20I018585	18585127	18585749	1.1	[{'connected_gene': 'ZNF133', 'score': 14.7}, {'connected_gene': 'LOC100270804', 'score': 13.62}, {'connected_gene': 'POLR3F', 'score': 11.99}, {'connected_gene': 'LOC100286962', 'score': 11.02}, {'connected_gene': 'DZANK1', 'score': 10.75}, {'connected_gene': 'LINC00652', 'score': 10.73}, {'connected_gene': 'DTD1', 'score': 2.17}, {'connected_gene': 'SEC23B', 'score': 1.49}, {'connected_gene': 'RN7SL638P', 'score': 0.44}]
chr20	GH20I018566	18566519	18568600	1.57	[{'connected_gene': 'SMIM26', 'score': 563.74}, {'connected_gene': 'DTD1', 'score': 562.31}, {'connected_gene': 'SEC23B', 'score': 21.56}, {'connected_gene': 'RBBP9', 'score': 13.2}, {'connected_gene': 'POLR3F', 'score': 10.73}, {'connected_gene': 'DZANK1', 'score': 10.73}, {'connected_gene': 'RN7SL638P', 'score': 0.34}]
chr20	GH20I018496	18496277	18497846	2.02	[{'connected_gene': 'RBBP9', 'score': 550.77}, {'connected_gene': 'SEC23B', 'score': 22.96}, {'connected_gene': 'SMIM26', 'score': 12.91}, {'connected_gene': 'RPL21P3', 'score': 0.39}]
chr20	GH20I018527	18527566	18528184	0.2	[{'connected_gene': 'POLR3F', 'score': 11.7}, {'connected_gene': 'DZANK1', 'score': 11.7}, {'connected_gene': 'RBBP9', 'score': 11.43}, {'connected_gene': 'SEC23B', 'score': 0.34}, {'connected_gene': 'GC20P018562', 'score': 0.29}]
chr20	GH20I018638	18638637	18640494	0.52	[{'connected_gene': 'SEC23B', 'score': 19.95}, {'connected_gene': 'DTD1', 'score': 13.91}, {'connected_gene': 'DUXAP7', 'score': 0.77}, {'connected_gene': 'PIR61674', 'score': 0.34}]
chr20	GH20I018713	18713017	18713166	0.52	[{'connected_gene': 'SEC23B', 'score': 18.2}, {'connected_gene': 'DTD1', 'score': 8.72}, {'connected_gene': 'LOC101929526', 'score': 0.39}, {'connected_gene': 'EEF1A1P34', 'score': 0.19}]
chr20	GH20I018737	18737514	18740426	0.96	[{'connected_gene': 'SEC23B', 'score': 18.19}, {'connected_gene': 'SMIM26', 'score': 12.18}, {'connected_gene': 'DTD1', 'score': 7.49}, {'connected_gene': 'DZANK1', 'score': 6.34}, {'connected_gene': 'LOC101929526', 'score': 0.26}, {'connected_gene': 'EEF1A1P34', 'score': 0.26}]
chr20	GH20I018523	18523194	18525967	0.38	[{'connected_gene': 'SEC23B', 'score': 13.95}, {'connected_gene': 'SMIM26', 'score': 13.22}, {'connected_gene': 'DTD1', 'score': 12.15}, {'connected_gene': 'RBBP9', 'score': 11.25}, {'connected_gene': 'GC20P018562', 'score': 0.28}]
chr20	GH20I018506	18506612	18508804	2.08	[{'connected_gene': 'SEC23B', 'score': 573.31}, {'connected_gene': 'SMIM26', 'score': 12.66}, {'connected_gene': 'LOC100270804', 'score': 11.59}, {'connected_gene': 'POLR3F', 'score': 10.55}, {'connected_gene': 'DZANK1', 'score': 10.55}, {'connected_gene': 'RN7SKP74', 'score': 10.32}, {'connected_gene': 'GC20P018562', 'score': 0.22}]
chr20	GH20I018185	18185881	18188085	0.31	[{'connected_gene': 'SEC23B', 'score': 4.82}, {'connected_gene': 'SNX5', 'score': 4.45}, {'connected_gene': 'GC20P018220', 'score': 0.29}, {'connected_gene': 'LOC100529052', 'score': 0.29}, {'connected_gene': 'KAT14', 'score': 0.25}]
chr20	GH20I018224	18224394	18225947	0.85	[{'connected_gene': 'SEC23B', 'score': 4.73}, {'connected_gene': 'SNX5', 'score': 4.59}, {'connected_gene': 'GC20P018220', 'score': 0.44}, {'connected_gene': 'LOC100529052', 'score': 0.44}, {'connected_gene': 'RN7SL14P', 'score': 0.29}]
chr20	GH20I018543	18543760	18544697	0.64	[{'connected_gene': 'SEC23B', 'score': 25.28}, {'connected_gene': 'RBBP9', 'score': 11.38}, {'connected_gene': 'POLR3F', 'score': 10.71}, {'connected_gene': 'DZANK1', 'score': 10.71}, {'connected_gene': 'DTD1', 'score': 7.97}, {'connected_gene': 'GC20P018562', 'score': 0.37}]
chr20	GH20I018197	18197155	18199732	0.43	[{'connected_gene': 'SEC23B', 'score': 4.57}, {'connected_gene': 'GC20P018220', 'score': 0.34}, {'connected_gene': 'LOC100529052', 'score': 0.34}, {'connected_gene': 'KAT14', 'score': 0.21}]