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Gene: LOC110121498 (VISTA enhancer hs2231) Homo sapiens

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Symbol:

LOC110121498

Name:

VISTA enhancer hs2231

RGD ID:

38666695

Description:

This locus represents a conserved genomic element that can function as an enhancer. It can activate a Hsp68 promoter coupled to a LacZ reporter gene in embryonic forebrain, hindbrain, midbrain and neural tube of transgenic mice. A subregion was also shown to be an active enhancer by ChIP-STARR-seq in primed human embryonic stem cells, where it associates with the OCT4 and NANOG transcription factors and is marked by the H3K27ac and H3K4me1 histone modifications. [provided by RefSeq, Nov 2022]

Type:

biological-region

RefSeq Status:

REVIEWED

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	15	31,303,587 - 31,308,005 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh37	15	31,595,790 - 31,600,208 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
T2T-CHM13v2.0	15	29,097,705 - 29,102,114 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
LOC110121498	Human	autistic disorder		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Autism	ClinVar	PMID:21681106 and PMID:30208311
LOC110121498	Human	chromosome 15q13.3 microdeletion syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome	ClinVar	PMID:31690835
LOC110121498	Human	schizophrenia		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Schizophrenia	ClinVar	PMID:21681106 and PMID:30208311

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
LOC110121498	Human	Autism		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Autism	ClinVar	PMID:21681106 and PMID:30208311
LOC110121498	Human	Autism		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Autism	ClinVar	PMID:21681106 and PMID:30208311
LOC110121498	Human	Autism		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Autism	ClinVar	PMID:21681106 and PMID:30208311
LOC110121498	Human	Schizophrenia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Schizophrenia	ClinVar	PMID:21681106 and PMID:30208311
LOC110121498	Human	Schizophrenia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Schizophrenia	ClinVar	PMID:21681106 and PMID:30208311
LOC110121498	Human	Schizophrenia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Schizophrenia	ClinVar	PMID:21681106 and PMID:30208311

PMID:17130149	PMID:30033119

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 15q11.2-13.3(chr15:23319714-32607498)x4	copy number gain	See cases [RCV000053208]	Chr15:23319714..32607498 [GRCh38] Chr15:22698322..32899699 [GRCh37] Chr15:20249686..30686991 [NCBI36] Chr15:15q11.2-13.3	pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30629714-32621998)x1	copy number loss	See cases [RCV000138247]	Chr15:30629714..32621998 [GRCh38] Chr15:30921917..32914199 [GRCh37] Chr15:28709209..30701491 [NCBI36] Chr15:15q13.2-13.3	pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30438310-32569425)x3	copy number gain	See cases [RCV000148179]	Chr15:30438310..32569425 [GRCh38] Chr15:30730513..32861626 [GRCh37] Chr15:28517805..30648918 [NCBI36] Chr15:15q13.2-13.3	uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30662523-32217725)x3	copy number gain	See cases [RCV000148196]	Chr15:30662523..32217725 [GRCh38] Chr15:30954726..32509926 [GRCh37] Chr15:28742018..30297218 [NCBI36] Chr15:15q13.2-13.3	uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30361674-32569425)x3	copy number gain	See cases [RCV000142669]	Chr15:30361674..32569425 [GRCh38] Chr15:30653877..32861626 [GRCh37] Chr15:28441169..30648918 [NCBI36] Chr15:15q13.2-13.3	uncertain significance\|conflicting data from submitters
GRCh38/hg38 15q13.1-13.3(chr15:28961114-32343758)x3	copy number gain	See cases [RCV000133742]	Chr15:28961114..32343758 [GRCh38] Chr15:29253317..32635959 [GRCh37] Chr15:27040609..30423251 [NCBI36] Chr15:15q13.1-13.3	uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30662521-32569411)x1	copy number loss	See cases [RCV000139327]	Chr15:30662521..32569411 [GRCh38] Chr15:30954724..32861612 [GRCh37] Chr15:28742016..30648904 [NCBI36] Chr15:15q13.2-13.3	pathogenic
GRCh38/hg38 15q13.1-13.3(chr15:28744504-32222779)x1	copy number loss	See cases [RCV000139417]	Chr15:28744504..32222779 [GRCh38] Chr15:28989650..32514980 [GRCh37] Chr15:26788691..30302272 [NCBI36] Chr15:15q13.1-13.3	pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30781465-32154629)x1	copy number loss	See cases [RCV000143747]	Chr15:30781465..32154629 [GRCh38] Chr15:31073668..32446830 [GRCh37] Chr15:28860960..30234122 [NCBI36] Chr15:15q13.2-13.3	pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30662523-32217725)x3	copy number gain	See cases [RCV000050441]	Chr15:30662523..32217725 [GRCh38] Chr15:30954726..32509926 [GRCh37] Chr15:28742018..30297218 [NCBI36] Chr15:15q13.2-13.3	uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30361674-32607357)x3	copy number gain	See cases [RCV000050899]	Chr15:30361674..32607357 [GRCh38] Chr15:30653877..32899558 [GRCh37] Chr15:28441169..30686850 [NCBI36] Chr15:15q13.2-13.3	uncertain significance\|conflicting data from submitters
GRCh38/hg38 15q13.2-13.3(chr15:30629714-32326182)x3	copy number gain	See cases [RCV000137535]	Chr15:30629714..32326182 [GRCh38] Chr15:30921917..32618383 [GRCh37] Chr15:28709209..30405675 [NCBI36] Chr15:15q13.2-13.3	uncertain significance
GRCh38/hg38 15q13.1-13.3(chr15:28730988-32275124)x3	copy number gain	See cases [RCV000138268]	Chr15:28730988..32275124 [GRCh38] Chr15:28976134..32567325 [GRCh37] Chr15:26775175..30354617 [NCBI36] Chr15:15q13.1-13.3	uncertain significance
GRCh38/hg38 15q13.1-13.3(chr15:28744504-32275124)x3	copy number gain	See cases [RCV000138283]	Chr15:28744504..32275124 [GRCh38] Chr15:28989650..32567325 [GRCh37] Chr15:26788691..30354617 [NCBI36] Chr15:15q13.1-13.3	uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30621371-32151912)x3	copy number gain	See cases [RCV000142144]	Chr15:30621371..32151912 [GRCh38] Chr15:30913574..32444113 [GRCh37] Chr15:28700866..30231405 [NCBI36] Chr15:15q13.2-13.3	uncertain significance
GRCh38/hg38 15q13.1-13.3(chr15:28918473-32606466)x3	copy number gain	See cases [RCV000051332]	Chr15:28918473..32606466 [GRCh38] Chr15:29210676..32898667 [GRCh37] Chr15:26997968..30685959 [NCBI36] Chr15:15q13.1-13.3	uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30527262-32217725)x1	copy number loss	See cases [RCV000148065]	Chr15:30527262..32217725 [GRCh38] Chr15:30819465..32509926 [GRCh37] Chr15:28606757..30297218 [NCBI36] Chr15:15q13.2-13.3	pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30629714-32247465)x3	copy number gain	See cases [RCV000139177]	Chr15:30629714..32247465 [GRCh38] Chr15:30921917..32539666 [GRCh37] Chr15:28709209..30326958 [NCBI36] Chr15:15q13.2-13.3	uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30291263-32217725)x3	copy number gain	See cases [RCV000136965]	Chr15:30291263..32217725 [GRCh38] Chr15:30583466..32509926 [GRCh37] Chr15:28370758..30297218 [NCBI36] Chr15:15q13.2-13.3	pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30361674-32569425)x1	copy number loss	See cases [RCV000136622]	Chr15:30361674..32569425 [GRCh38] Chr15:30653877..32861626 [GRCh37] Chr15:28441169..30648918 [NCBI36] Chr15:15q13.2-13.3	pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30629714-32222779)x1	copy number loss	See cases [RCV000142808]	Chr15:30629714..32222779 [GRCh38] Chr15:30921917..32514980 [GRCh37] Chr15:28709209..30302272 [NCBI36] Chr15:15q13.2-13.3	pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30629714-32569425)x3	copy number gain	See cases [RCV000142792]	Chr15:30629714..32569425 [GRCh38] Chr15:30921917..32861626 [GRCh37] Chr15:28709209..30648918 [NCBI36] Chr15:15q13.2-13.3	pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30361674-32414682)x3	copy number gain	See cases [RCV000137254]	Chr15:30361674..32414682 [GRCh38] Chr15:30653877..32706883 [GRCh37] Chr15:28441169..30494175 [NCBI36] Chr15:15q13.2-13.3	pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-32384654)x1	copy number loss	See cases [RCV000138308]	Chr15:23319714..32384654 [GRCh38] Chr15:22765628..32676855 [GRCh37] Chr15:20316992..30464147 [NCBI36] Chr15:15q11.2-13.1	pathogenic
GRCh38/hg38 15q11.2-14(chr15:23319714-38545325)x3	copy number gain	See cases [RCV000138530]	Chr15:23319714..38545325 [GRCh38] Chr15:22765628..38837526 [GRCh37] Chr15:20316992..36624818 [NCBI36] Chr15:15q11.2-14	pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30361674-32607357)x3	copy number gain	See cases [RCV000148165]	Chr15:30361674..32607357 [GRCh38] Chr15:30653877..32899558 [GRCh37] Chr15:28441169..30686850 [NCBI36] Chr15:15q13.2-13.3	uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30361674-31572487)x3	copy number gain	See cases [RCV000135791]	Chr15:30361674..31572487 [GRCh38] Chr15:30653877..31864690 [GRCh37] Chr15:28441169..29651982 [NCBI36] Chr15:15q13.2-13.3	pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30438310-32569425)x3	copy number gain	See cases [RCV000050375]	Chr15:30438310..32569425 [GRCh38] Chr15:30730513..32861626 [GRCh37] Chr15:28517805..30648918 [NCBI36] Chr15:15q13.2-13.3	uncertain significance\|conflicting data from submitters
GRCh38/hg38 15q13.2-13.3(chr15:30438310-32569425)x1	copy number loss	See cases [RCV000050376]	Chr15:30438310..32569425 [GRCh38] Chr15:30730513..32861626 [GRCh37] Chr15:28517805..30648918 [NCBI36] Chr15:15q13.2-13.3	pathogenic
GRCh38/hg38 15q11.2-13.3(chr15:23328044-32151843)x3	copy number gain	See cases [RCV000143653]	Chr15:23328044..32151843 [GRCh38] Chr15:23282829..32444044 [GRCh37] Chr15:20834270..30231336 [NCBI36] Chr15:15q11.2-13.3	pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-32607357)x3	copy number gain	See cases [RCV000138622]	Chr15:23319714..32607357 [GRCh38] Chr15:22765637..32899558 [GRCh37] Chr15:20317001..30686850 [NCBI36] Chr15:15q11.2-13.1	pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30629714-32247465)x1	copy number loss	See cases [RCV000139178]	Chr15:30629714..32247465 [GRCh38] Chr15:30921917..32539666 [GRCh37] Chr15:28709209..30326958 [NCBI36] Chr15:15q13.2-13.3	pathogenic\|conflicting data from submitters
GRCh38/hg38 15q13.2-13.3(chr15:30438310-32217725)x1	copy number loss	See cases [RCV000050511]	Chr15:30438310..32217725 [GRCh38] Chr15:30730513..32509926 [GRCh37] Chr15:28517805..30297218 [NCBI36] Chr15:15q13.2-13.3	pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30629714-32275124)x1	copy number loss	See cases [RCV000143262]	Chr15:30629714..32275124 [GRCh38] Chr15:30921917..32567325 [GRCh37] Chr15:28709209..30354617 [NCBI36] Chr15:15q13.2-13.3	pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30361674-32607357)x1	copy number loss	See cases [RCV000050900]	Chr15:30361674..32607357 [GRCh38] Chr15:30653877..32899558 [GRCh37] Chr15:28441169..30686850 [NCBI36] Chr15:15q13.2-13.3	pathogenic
GRCh38/hg38 15q13.1-13.3(chr15:28314197-32343758)x1	copy number loss	See cases [RCV000050564]	Chr15:28314197..32343758 [GRCh38] Chr15:28579796..32635959 [GRCh37] Chr15:26232938..30423251 [NCBI36] Chr15:15q13.1-13.3	pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30781466-32154629)x3	copy number gain	See cases [RCV000143499]	Chr15:30781466..32154629 [GRCh38] Chr15:31073669..32446830 [GRCh37] Chr15:28860961..30234122 [NCBI36] Chr15:15q13.2-13.3	uncertain significance\|conflicting data from submitters
GRCh38/hg38 15q11.2-14(chr15:23319714-38089582)x1	copy number loss	See cases [RCV000135953]	Chr15:23319714..38089582 [GRCh38] Chr15:22698522..38381783 [GRCh37] Chr15:20249886..36169075 [NCBI36] Chr15:15q11.2-14	pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30361656-32150923)x3	copy number gain	See cases [RCV000135974]	Chr15:30361656..32150923 [GRCh38] Chr15:30653859..32443124 [GRCh37] Chr15:28441151..30230416 [NCBI36] Chr15:15q13.2-13.3	pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-32217731)x3	copy number gain	See cases [RCV000139610]	Chr15:23319714..32217731 [GRCh38] Chr15:22765637..32509932 [GRCh37] Chr15:20317001..30297224 [NCBI36] Chr15:15q11.2-13.1	pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30662523-32217725)x1	copy number loss	See cases [RCV000050442]	Chr15:30662523..32217725 [GRCh38] Chr15:30954726..32509926 [GRCh37] Chr15:28742018..30297218 [NCBI36] Chr15:15q13.2-13.3	pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30621371-32147323)x3	copy number gain	See cases [RCV000142184]	Chr15:30621371..32147323 [GRCh38] Chr15:30913574..32439524 [GRCh37] Chr15:28700866..30226816 [NCBI36] Chr15:15q13.2-13.3	uncertain significance\|conflicting data from submitters
GRCh38/hg38 15q13.2-13.3(chr15:30629714-32222779)x3	copy number gain	See cases [RCV000142809]	Chr15:30629714..32222779 [GRCh38] Chr15:30921917..32514980 [GRCh37] Chr15:28709209..30302272 [NCBI36] Chr15:15q13.2-13.3	uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30781532-32154629)x1	copy number loss	See cases [RCV000142300]	Chr15:30781532..32154629 [GRCh38] Chr15:31073735..32446830 [GRCh37] Chr15:28861027..30234122 [NCBI36] Chr15:15q13.2-13.3	pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30361674-32222779)x3	copy number gain	See cases [RCV000135725]	Chr15:30361674..32222779 [GRCh38] Chr15:30653877..32514980 [GRCh37] Chr15:28441169..30302272 [NCBI36] Chr15:15q13.2-13.3	uncertain significance
GRCh38/hg38 15q11.2-13.3(chr15:23319714-32607357)x3	copy number gain	See cases [RCV000051112]	Chr15:23319714..32607357 [GRCh38] Chr15:22698522..32899558 [GRCh37] Chr15:20249886..30686850 [NCBI36] Chr15:15q11.2-13.3	pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30527262-32621998)x3	copy number gain	See cases [RCV000137855]	Chr15:30527262..32621998 [GRCh38] Chr15:30819465..32914199 [GRCh37] Chr15:28606757..30701491 [NCBI36] Chr15:15q13.2-13.3	uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30361674-32343758)x3	copy number gain	See cases [RCV000051336]	Chr15:30361674..32343758 [GRCh38] Chr15:30653877..32635959 [GRCh37] Chr15:28441169..30423251 [NCBI36] Chr15:15q13.2-13.3	uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30640878-32222779)x3	copy number gain	See cases [RCV000051351]	Chr15:30640878..32222779 [GRCh38] Chr15:30933081..32514980 [GRCh37] Chr15:28720373..30302272 [NCBI36] Chr15:15q13.2-13.3	uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30662521-32217731)x3	copy number gain	See cases [RCV000134822]	Chr15:30662521..32217731 [GRCh38] Chr15:30954724..32509932 [GRCh37] Chr15:28742016..30297224 [NCBI36] Chr15:15q13.2-13.3	uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30527262-32217725)x1	copy number loss	See cases [RCV000050599]	Chr15:30527262..32217725 [GRCh38] Chr15:30819465..32509926 [GRCh37] Chr15:28606757..30297218 [NCBI36] Chr15:15q13.2-13.3	pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30662523-32607357)x1	copy number loss	See cases [RCV000050609]	Chr15:30662523..32607357 [GRCh38] Chr15:30954726..32899558 [GRCh37] Chr15:28742018..30686850 [NCBI36] Chr15:15q13.2-13.3	pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30662521-32150923)x1	copy number loss	See cases [RCV000139322]	Chr15:30662521..32150923 [GRCh38] Chr15:30954724..32443124 [GRCh37] Chr15:28742016..30230416 [NCBI36] Chr15:15q13.2-13.3	pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30361674-32621998)x1	copy number loss	See cases [RCV000137266]	Chr15:30361674..32621998 [GRCh38] Chr15:30653877..32914199 [GRCh37] Chr15:28441169..30701491 [NCBI36] Chr15:15q13.2-13.3	pathogenic
GRCh38/hg38 15q11.2-14(chr15:25033869-37204304)x1	copy number loss	See cases [RCV000143205]	Chr15:25033869..37204304 [GRCh38] Chr15:25279016..37496505 [GRCh37] Chr15:22830109..35283797 [NCBI36] Chr15:15q11.2-14	pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30109224-32149250)x3	copy number gain	See cases [RCV000051334]	Chr15:30109224..32149250 [GRCh38] Chr15:30401427..32441451 [GRCh37] Chr15:28188719..30228743 [NCBI36] Chr15:15q13.2-13.3	uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30662521-32217731)x1	copy number loss	See cases [RCV000134823]	Chr15:30662521..32217731 [GRCh38] Chr15:30954724..32509932 [GRCh37] Chr15:28742016..30297224 [NCBI36] Chr15:15q13.2-13.3	pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30662523-32217725)x1	copy number loss	See cases [RCV000148066]	Chr15:30662523..32217725 [GRCh38] Chr15:30954726..32509926 [GRCh37] Chr15:28742018..30297218 [NCBI36] Chr15:15q13.2-13.3	pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30438110-32607498)x3	copy number gain	See cases [RCV000051339]	Chr15:30438110..32607498 [GRCh38] Chr15:30730313..32899699 [GRCh37] Chr15:28517605..30686991 [NCBI36] Chr15:15q13.2-13.3	uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30527262-32222779)x1	copy number loss	See cases [RCV000140690]	Chr15:30527262..32222779 [GRCh38] Chr15:30819465..32514980 [GRCh37] Chr15:28606757..30302272 [NCBI36] Chr15:15q13.2-13.3	pathogenic\|likely pathogenic\|conflicting data from submitters
GRCh38/hg38 15q13.2-13.3(chr15:30094195-32151843)x3	copy number gain	See cases [RCV000141654]	Chr15:30094195..32151843 [GRCh38] Chr15:30386398..32444044 [GRCh37] Chr15:28173690..30231336 [NCBI36] Chr15:15q13.2-13.3	uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30614351-32606466)x1	copy number loss	See cases [RCV000052455]	Chr15:30614351..32606466 [GRCh38] Chr15:30906554..32898667 [GRCh37] Chr15:28693846..30685959 [NCBI36] Chr15:15q13.2-13.3	pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30750713-32217725)x1	copy number loss	See cases [RCV000052464]	Chr15:30750713..32217725 [GRCh38] Chr15:31042916..32509926 [GRCh37] Chr15:28830208..30297218 [NCBI36] Chr15:15q13.2-13.3	pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30797731-32170441)x1	copy number loss	See cases [RCV000141147]	Chr15:30797731..32170441 [GRCh38] Chr15:31089934..32462642 [GRCh37] Chr15:28877226..30249934 [NCBI36] Chr15:15q13.2-13.3	pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30750713-32607357)x1	copy number loss	See cases [RCV000135446]	Chr15:30750713..32607357 [GRCh38] Chr15:31042916..32899558 [GRCh37] Chr15:28830208..30686850 [NCBI36] Chr15:15q13.2-13.3	pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30438310-32607357)x3	copy number gain	See cases [RCV000135452]	Chr15:30438310..32607357 [GRCh38] Chr15:30730513..32899558 [GRCh37] Chr15:28517805..30686850 [NCBI36] Chr15:15q13.2-13.3	conflicting interpretations of pathogenicity\|conflicting data from submitters
GRCh38/hg38 15q13.2-13.3(chr15:30217122-32217725)x1	copy number loss	See cases [RCV000141477]	Chr15:30217122..32217725 [GRCh38] Chr15:30509325..32509926 [GRCh37] Chr15:28296617..30297218 [NCBI36] Chr15:15q13.2-13.3	pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30361674-31317476)x1	copy number loss	See cases [RCV000052430]	Chr15:30361674..31317476 [GRCh38] Chr15:30653877..31609679 [GRCh37] Chr15:28441169..29396971 [NCBI36] Chr15:15q13.2-13.3	pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30634533-32121422)x1	copy number loss	See cases [RCV000052458]	Chr15:30634533..32121422 [GRCh38] Chr15:30926736..32413623 [GRCh37] Chr15:28714028..30200915 [NCBI36] Chr15:15q13.2-13.3	pathogenic
Single allele	duplication	Schizophrenia [RCV000754162]	Chr15:30506022..32161746 [GRCh38] Chr15:15q13.2-13.3	likely pathogenic
Single allele	duplication	Schizophrenia [RCV000754164]	Chr15:30568981..32151126 [GRCh38] Chr15:15q13.2-13.3	likely pathogenic
GRCh38/hg38 15q13.3(chr15:30969632-31317417)x3	copy number gain	See cases [RCV000140616]	Chr15:30969632..31317417 [GRCh38] Chr15:31261835..31609620 [GRCh37] Chr15:29049127..29396912 [NCBI36] Chr15:15q13.3	benign
GRCh38/hg38 15q11.1-13.3(chr15:20002460-32121422)x3	copy number gain	See cases [RCV000052340]	Chr15:20002460..32121422 [GRCh38] Chr15:20207713..32413623 [GRCh37] Chr15:18467727..30200915 [NCBI36] Chr15:15q11.1-13.3	pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30527262-32343758)x1	copy number loss	See cases [RCV000052452]	Chr15:30527262..32343758 [GRCh38] Chr15:30819465..32635959 [GRCh37] Chr15:28606757..30423251 [NCBI36] Chr15:15q13.2-13.3	pathogenic
NC_000015.10:g.(?_30568981)_(32318632_?)del	deletion	Autism [RCV000754165]	Chr15:30568981..32318632 [GRCh38] Chr15:15q13.2-13.3	pathogenic
GRCh38/hg38 15q11.1-13.3(chr15:19840581-32621939)x4	copy number gain	See cases [RCV000140623]	Chr15:19840581..32621939 [GRCh38] Chr15:20045834..32914140 [GRCh37] Chr15:18305848..30701432 [NCBI36] Chr15:15q11.1-13.3	pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30527262-32222779)x3	copy number gain	See cases [RCV000140689]	Chr15:30527262..32222779 [GRCh38] Chr15:30819465..32514980 [GRCh37] Chr15:28606757..30302272 [NCBI36] Chr15:15q13.2-13.3	uncertain significance
GRCh38/hg38 15q13.1-13.3(chr15:28918473-32149250)x1	copy number loss	See cases [RCV000052412]	Chr15:28918473..32149250 [GRCh38] Chr15:29210676..32441451 [GRCh37] Chr15:26997968..30228743 [NCBI36] Chr15:15q13.1-13.3	pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30361674-32326182)x1	copy number loss	See cases [RCV000052431]	Chr15:30361674..32326182 [GRCh38] Chr15:30653877..32618383 [GRCh37] Chr15:28441169..30405675 [NCBI36] Chr15:15q13.2-13.3	pathogenic
NC_000015.10:g.(?_30325774)_(32194551_?)del	deletion	Schizophrenia [RCV000754161]	Chr15:30325774..32194551 [GRCh38] Chr15:15q13.2-13.3	pathogenic
NC_000015.10:g.(?_30568981)_(32151126_?)del	deletion	Autism [RCV000754163]	Chr15:30568981..32151126 [GRCh38] Chr15:15q13.2-13.3	pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30217122-32607357)x1	copy number loss	See cases [RCV000141482]	Chr15:30217122..32607357 [GRCh38] Chr15:30509325..32899558 [GRCh37] Chr15:28296617..30686850 [NCBI36] Chr15:15q13.2-13.3	pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30361674-32222779)x1	copy number loss	See cases [RCV000052433]	Chr15:30361674..32222779 [GRCh38] Chr15:30653877..32514980 [GRCh37] Chr15:28441169..30302272 [NCBI36] Chr15:15q13.2-13.3	pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30527062-32217866)x1	copy number loss	See cases [RCV000052436]	Chr15:30527062..32217866 [GRCh38] Chr15:30819265..32510067 [GRCh37] Chr15:28606557..30297359 [NCBI36] Chr15:15q13.2-13.3	pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30592358-32121422)x1	copy number loss	See cases [RCV000052453]	Chr15:30592358..32121422 [GRCh38] Chr15:30884561..32413623 [GRCh37] Chr15:28671853..30200915 [NCBI36] Chr15:15q13.2-13.3	pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30822844-32149250)x1	copy number loss	See cases [RCV000052465]	Chr15:30822844..32149250 [GRCh38] Chr15:31115047..32441451 [GRCh37] Chr15:28902339..30228743 [NCBI36] Chr15:15q13.2-13.3	pathogenic
Single allele	duplication	Autism [RCV000754147]	Chr15:22420897..32130343 [GRCh38] Chr15:15q11.2-13.3	pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30797731-32150818)x3	copy number gain	See cases [RCV000135330]	Chr15:30797731..32150818 [GRCh38] Chr15:31089934..32443019 [GRCh37] Chr15:28877226..30230311 [NCBI36] Chr15:15q13.2-13.3	pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30109224-32606466)x1	copy number loss	See cases [RCV000052426]	Chr15:30109224..32606466 [GRCh38] Chr15:30401427..32898667 [GRCh37] Chr15:28188719..30685959 [NCBI36] Chr15:15q13.2-13.3	pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30662323-32217866)x1	copy number loss	See cases [RCV000052461]	Chr15:30662323..32217866 [GRCh38] Chr15:30954526..32510067 [GRCh37] Chr15:28741818..30297359 [NCBI36] Chr15:15q13.2-13.3	pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30822844-32606466)x1	copy number loss	See cases [RCV000052481]	Chr15:30822844..32606466 [GRCh38] Chr15:31115047..32898667 [GRCh37] Chr15:28902339..30685959 [NCBI36] Chr15:15q13.2-13.3	pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30361674-32630901)x1	copy number loss	See cases [RCV000051585]	Chr15:30361674..32630901 [GRCh38] Chr15:30653877..32923102 [GRCh37] Chr15:28441169..30710394 [NCBI36] Chr15:15q13.2-13.3	pathogenic
Single allele	deletion	Chromosome 15q13.3 microdeletion syndrome [RCV002280355]	Chr15:30626003..32111997 [GRCh38] Chr15:15q13.2-13.3	pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30866083-32146743)	copy number gain	Anomalous pulmonary venous return [RCV003223577]	Chr15:30866083..32146743 [GRCh38] Chr15:15q13.2-13.3	uncertain significance
GRCh38/hg38 15q11.2-13.3(chr15:22612582-32116118)	copy number gain	15q11q13 microduplication syndrome [RCV003985066]	Chr15:22612582..32116118 [GRCh38] Chr15:15q11.2-13.3	pathogenic

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
2289410	BW327_H	Body weight QTL 327 (human)	3.32	0.0001	Body fat amount		15	19980129	45980129	Human
1643273	BW330_H	Body Weight QTL 330 (human)	1.05	0.014	Body weight	body mass index	15	26866719	52866719	Human
2289430	BMD7_H	Bone mineral density QTL 7 (human)	3.32	0.0001	Bone mineral density		15	19980129	45980129	Human
1559411	SCL107_H	Serum cholesterol level QTL 107 (human)	3.88		Lipid level	triglyceride	15	26543552	52543552	Human
1643523	BW284_H	Body Weight QTL 284 (human)	1.95	0.0013	Body weight		15	21792889	47792889	Human
2289420	BW314_H	Body weight QTL 314 (human)	2.72	0.0003	Body weight	lean mass	15	19980129	45980129	Human

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.


RefSeq Transcripts	NG_054111	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC012236	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC243650	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068263	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Database	Acc Id	Source(s)
COSMIC	LOC110121498	COSMIC
GTEx	LOC110121498	GTEx
Human Proteome Map	LOC110121498	Human Proteome Map
NCBI Gene	LOC110121498	ENTREZGENE

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailable


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Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
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Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar