HEXB (hexosaminidase subunit beta)

	Submit Data \| Help \| Video Tutorials \| News \| Publications \| FTP Download \| REST API \| Citing RGD \| Contact
	Search RGD Grant Resources Citing RGD About Us Contact Us Genes QTLs Strains Markers Genome Information Ontologies Cell Lines References FTP Download Submit Data OntoMate (Literature Search) JBrowse (Genome Browser) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) RatMine GViewer (Genome Viewer) Overgo Probe Designer ACP Haplotyper Genome Scanner Aging & Age-Related Disease Cancer Cardiovascular Disease COVID-19 Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease Find Models new Genetic Models Autism Models PhenoMiner (Quantitative Phenotypes) Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes GERRC (Gene Editing Rat Resource Center) Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive Pathways Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Poster Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
	Advanced Search (OLGA)

Gene: HEXB (hexosaminidase subunit beta) Homo sapiens

Analyze

Symbol:

HEXB

Name:

hexosaminidase subunit beta

RGD ID:

1316898

HGNC Page

HGNC

Description:

Exhibits acetylglucosaminyltransferase activity; beta-N-acetylhexosaminidase activity; and identical protein binding activity. Involved in ganglioside catabolic process. Localizes to azurophil granule. Implicated in Sandhoff disease and spinal muscular atrophy.

Type:

protein-coding

RefSeq Status:

REVIEWED

Also known as:

beta-hexosaminidase beta-subunit; beta-hexosaminidase subunit beta; beta-N-acetylhexosaminidase subunit beta; cervical cancer proto-oncogene 7 protein; ENC-1AS; epididymis luminal protein 248; epididymis secretory protein Li 111; HCC-7; HEL-248; HEL-S-111; hexosaminidase B (beta polypeptide); hexosaminidase subunit B; N-acetyl-beta-glucosaminidase subunit beta

RGD Orthologs

Mouse

Rat

Chinchilla

Bonobo

Dog

Squirrel

Pig

Green Monkey

Naked Mole-Rat

Alliance Genes

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Hexb (hexosaminidase B)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Hexb (hexosaminidase subunit beta)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Hexb (hexosaminidase subunit beta)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	HEXB (hexosaminidase subunit beta)	NCBI	Ortholog
Canis lupus familiaris (dog):	HEXB (hexosaminidase subunit beta)	HGNC	Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Hexb (hexosaminidase subunit beta)	NCBI	Ortholog
Sus scrofa (pig):	HEXB (hexosaminidase subunit beta)	HGNC	EggNOG, Ensembl, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (African green monkey):	HEXB (hexosaminidase subunit beta)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Hexb (hexosaminidase subunit beta)	NCBI	Ortholog
Other homologs ²
Rattus norvegicus (Norway rat):	Hexa (hexosaminidase subunit alpha)	HGNC	OrthoDB
Canis lupus familiaris (dog):	HEXA (hexosaminidase subunit alpha)	HGNC	OrthoDB
Sus scrofa (pig):	HEXA (hexosaminidase subunit alpha)	HGNC	OrthoDB
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Hexb (hexosaminidase subunit beta)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|TreeFam)
Mus musculus (house mouse):	Hexb (hexosaminidase B)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|Roundup\|TreeFam)
Danio rerio (zebrafish):	hexb (hexosaminidase B (beta polypeptide))	Alliance	DIOPT (Hieranoid\|InParanoid\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|Roundup\|TreeFam\|ZFIN)
Caenorhabditis elegans (roundworm):	hex-1	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|Roundup)
Drosophila melanogaster (fruit fly):	Hexo1	Alliance	DIOPT (Ensembl Compara\|InParanoid\|OMA\|OrthoInspector\|Roundup)
Drosophila melanogaster (fruit fly):	Hexo2	Alliance	DIOPT (Ensembl Compara\|InParanoid\|OMA\|OrthoInspector\|Roundup)
Drosophila melanogaster (fruit fly):	fdl	Alliance	DIOPT (Ensembl Compara\|InParanoid\|OMA\|OrthoInspector\|Roundup)

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.p13 Ensembl	5	74,640,023 - 74,722,647 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh38	5	74,640,023 - 74,721,288 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh37	5	73,935,848 - 74,017,113 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
GRCh37	5	73,935,547 - 74,017,113 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	5	74,016,767 - 74,052,869 (+)	NCBI	NCBI36		hg18	NCBI36
Build 34	5	74,016,766 - 74,052,869	NCBI
Celera	5	69,875,759 - 69,911,869 (+)	NCBI
Cytogenetic Map	5	q13.3	NCBI
HuRef	5	69,185,979 - 69,222,054 (+)	NCBI		HuRef
CHM1_1	5	73,368,412 - 73,449,974 (+)	NCBI		CHM1_1

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

acute kidney failure (EXP)

COVID-19 (HEP)

genetic disease (IAGP)

intellectual disability (IAGP)

Neurodevelopmental Disorders (IAGP)

Sandhoff disease (IAGP)

Sandhoff Disease, Adult Type (IAGP)

Sandhoff Disease, Infantile Type (IAGP)

Sandhoff Disease, Juvenile Type (IAGP)

spinal muscular atrophy (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(+)-schisandrin B (ISO)

1,2-dimethylhydrazine (ISO)

17beta-hydroxy-17-methylestra-4,9,11-trien-3-one (EXP)

2,3,7,8-tetrachlorodibenzodioxine (ISO)

2,3,7,8-Tetrachlorodibenzofuran (ISO)

2,6-di-tert-butyl-4-methylphenol (ISO)

2,6-dinitrotoluene (ISO)

2-hydroxypropanoic acid (EXP)

2-Methylaziridine (ISO)

3-chloropropane-1,2-diol (ISO)

3-isobutyl-1-methyl-7H-xanthine (EXP)

4,4'-sulfonyldiphenol (EXP)

4-(ethoxymethylene)-2-phenyloxazol-5-one (ISO)

5-aza-2'-deoxycytidine (EXP)

acrolein (EXP)

all-trans-retinoic acid (ISO)

alpha-pinene (EXP)

ampicillin (ISO)

Aroclor 1254 (ISO)

astemizole (ISO)

atracurium (EXP)

atrazine (EXP)

azithromycin (ISO)

beauvericin (EXP)

benzo[a]pyrene (EXP,ISO)

biphenyl-2-ol (ISO)

bis(2-chloroethyl) sulfide (ISO)

bis(2-ethylhexyl) phthalate (EXP)

bisphenol A (EXP,ISO)

bisphenol F (EXP)

bitertanol (ISO)

Brodifacoum (ISO)

buspirone (ISO)

butylated hydroxyanisole (ISO)

Butylparaben (ISO)

cadmium atom (EXP)

carbamazepine (EXP)

carbon nanotube (ISO)

cetirizine (ISO)

choline (ISO)

chromium(6+) (ISO)

cisplatin (EXP)

clofibric acid (ISO)

cupressuflavone (ISO)

cyclosporin A (EXP,ISO)

dexamethasone (EXP)

dicrotophos (EXP)

doxorubicin (EXP)

enniatin (EXP)

entinostat (EXP)

ethanol (ISO)

finasteride (ISO)

flunarizine (ISO)

flutamide (ISO)

folic acid (ISO)

furan (ISO)

gamma-linolenic acid (EXP)

gentamycin (ISO)

glafenine (ISO)

glyphosate (ISO)

hydroxyzine (ISO)

indometacin (EXP)

ionomycin (EXP,ISO)

KN-93 (ISO)

L-methionine (ISO)

lead diacetate (ISO)

lipopolysaccharide (ISO)

metronidazole (ISO)

Mibefradil (ISO)

ML-7 (ISO)

N-(4-aminobutyl)-5-chloronaphthalene-2-sulfonamide (ISO)

N-methyl-4-phenylpyridinium (EXP)

N-nitrosodiethylamine (ISO)

neomycin (ISO)

nickel dichloride (ISO)

Oxatomide (ISO)

oxycodone (ISO)

ozone (EXP)

paracetamol (EXP)

perfluorooctanoic acid (ISO)

permethrin (ISO)

phenobarbital (ISO)

pirinixic acid (ISO)

prothiofos (ISO)

pyridaben (ISO)

pyrimethamine (EXP)

quercetin (EXP)

rac-lactic acid (EXP)

resveratrol (EXP)

rotenone (EXP,ISO)

Salinomycin (ISO)

silver atom (ISO)

silver(0) (ISO)

sodium fluoride (ISO)

Soman (ISO)

sunitinib (EXP)

terbufos (ISO)

tetrachloromethane (ISO)

tetracycline (ISO)

titanium dioxide (ISO)

valproic acid (EXP,ISO)

vancomycin (ISO)

vecuronium bromide (EXP)

Yessotoxin (EXP)

zinc dichloride (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

astrocyte cell migration (IEA,ISO)

carbohydrate metabolic process (IEA)

cellular calcium ion homeostasis (IEA,ISO)

cellular protein metabolic process (IEA,ISO)

chondroitin sulfate catabolic process (TAS)

ganglioside catabolic process (IDA,ISO)

glycosaminoglycan metabolic process (ISO)

glycosphingolipid metabolic process (ISO,TAS)

hyaluronan catabolic process (TAS)

keratan sulfate catabolic process (TAS)

lipid storage (IEA,ISO)

locomotory behavior (IEA,ISO)

lysosome organization (IEA,ISO)

male courtship behavior (IEA,ISO)

myelination (IEA,ISO)

N-acetylglucosamine metabolic process (ISO)

neuromuscular process (ISO)

neuromuscular process controlling balance (IEA,ISO)

neutrophil degranulation (TAS)

oligosaccharide catabolic process (IEA,ISO)

oogenesis (IEA,ISO)

penetration of zona pellucida (IEA,ISO)

phospholipid biosynthetic process (IEA,ISO)

positive regulation of transcription by RNA polymerase II (IEA,ISO)

regulation of cell shape (IEA,ISO)

regulation of cellular metabolic process (ISO)

sensory perception of sound (IEA,ISO)

sexual reproduction (ISO)

single fertilization (ISO,ISS)

skeletal system development (IEA,ISO)

Cellular Component

acrosomal vesicle (IEA,ISO)

azurophil granule (IDA)

azurophil granule lumen (TAS)

cortical granule (ISS)

extracellular exosome (HDA)

extracellular region (TAS)

extracellular space (ISO)

lysosomal lumen (TAS)

lysosome (ISO)

membrane (HDA,ISO)

Molecular Function

acetylglucosaminyltransferase activity (IDA)

beta-N-acetylglucosaminidase activity (ISO)

beta-N-acetylhexosaminidase activity (IDA,IEA,ISO)

carbohydrate binding (ISO)

hexosaminidase activity (ISO)

hydrolase activity (ISO)

identical protein binding (IDA,ISO)

N-acetyl-beta-D-galactosaminidase activity (IEA)

protein binding (IPI)

protein-containing complex binding (ISO)

Molecular Pathway Annotations Click to see Annotation Detail View

amino sugar metabolic pathway (IEA)

ganglioside metabolic pathway (IEA)

globoside metabolic pathway (IEA)

nucleotide sugar metabolic pathway (IEA)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Abnormal glycosphingolipid metabolism (IAGP)

Ataxia (IAGP)

Autosomal recessive inheritance (IAGP)

Blindness (IAGP)

Cardiomegaly (IAGP)

Cherry red spot of the macula (IAGP)

Chronic diarrhea (IAGP)

Coarse facial features (IAGP)

Dysarthria (IAGP)

Episodic abdominal pain (IAGP)

Fasciculations (IAGP)

Hepatosplenomegaly (IAGP)

Hyperhidrosis (IAGP)

Hyperreflexia (IAGP)

Hypohidrosis (IAGP)

Impaired thermal sensitivity (IAGP)

Impotence (IAGP)

Macrocephaly (IAGP)

Macroglossia (IAGP)

Muscle weakness (IAGP)

Orthostatic hypotension (IAGP)

Progressive psychomotor deterioration (IAGP)

Skeletal muscle atrophy (IAGP)

Upper motor neuron dysfunction (IAGP)

Urinary incontinence (IAGP)

References

References - curated


1.	Banerjee P, etal., Biochem Biophys Res Commun. 1991 Nov 27;181(1):108-15.
2.	GOA_HUMAN data from the GO Consortium
3.	Neote K, etal., J Clin Invest. 1990 Nov;86(5):1524-31.
4.	OMIM Disease Annotation Pipeline
5.	Pipeline to import KEGG annotations from KEGG into RGD
6.	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7.	RGD automated import pipeline for gene-chemical interactions
8.	RGD automated import pipeline for human HPO-to-gene-to-disease annotations
9.	Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.

Additional References at PubMed

PMID:1054503	PMID:1386607	PMID:1487253	PMID:1531140	PMID:1825792	PMID:1967020	PMID:2139028	PMID:2147427	PMID:2170400	PMID:2522450	PMID:2525487	PMID:2579389
PMID:2921040	PMID:2948136	PMID:2964638	PMID:2965147	PMID:2966076	PMID:2971039	PMID:2971395	PMID:2977375	PMID:3013851	PMID:6230359	PMID:6959123	PMID:7177110
PMID:7299841	PMID:7557963	PMID:7626071	PMID:7633435	PMID:8045559	PMID:8106452	PMID:8123671	PMID:8357844	PMID:8634145	PMID:8663217	PMID:8672428	PMID:8673609
PMID:8950198	PMID:9401004	PMID:9694901	PMID:9856491	PMID:9888387	PMID:10571007	PMID:10591618	PMID:10982028	PMID:11447134	PMID:12413610	PMID:12477932	PMID:12662933
PMID:12706724	PMID:12754519	PMID:14702039	PMID:15459180	PMID:15485660	PMID:15489334	PMID:15953731	PMID:16352452	PMID:16698036	PMID:16710745	PMID:17251047	PMID:18180457
PMID:18204279	PMID:18217416	PMID:18552385	PMID:18588514	PMID:18758829	PMID:18930675	PMID:19278737	PMID:19615986	PMID:19913121	PMID:19946888	PMID:20628086	PMID:20800603
PMID:21307379	PMID:21321400	PMID:21637923	PMID:21900206	PMID:21978926	PMID:21997228	PMID:22191674	PMID:22268729	PMID:22789865	PMID:22848519	PMID:22863301	PMID:22863883
PMID:23046579	PMID:23349634	PMID:23370522	PMID:23376485	PMID:23533145	PMID:23886397	PMID:23906468	PMID:23911049	PMID:24461908	PMID:24518553	PMID:25645918	PMID:25659154
PMID:26344197	PMID:26496610	PMID:26582265	PMID:27018595	PMID:27105913	PMID:27682710	PMID:28514442	PMID:28846871	PMID:29128334	PMID:29448188	PMID:30397336	PMID:31682993
PMID:31852446	PMID:31919734	PMID:32296183	PMID:32814053

Genomics

Comparative Map Data

HEXB
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38.p13 Ensembl	5	74,640,023 - 74,722,647 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh38	5	74,640,023 - 74,721,288 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh37	5	73,935,848 - 74,017,113 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
GRCh37	5	73,935,547 - 74,017,113 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	5	74,016,767 - 74,052,869 (+)	NCBI	NCBI36		hg18	NCBI36
Build 34	5	74,016,766 - 74,052,869	NCBI
Celera	5	69,875,759 - 69,911,869 (+)	NCBI
Cytogenetic Map	5	q13.3	NCBI
HuRef	5	69,185,979 - 69,222,054 (+)	NCBI		HuRef
CHM1_1	5	73,368,412 - 73,449,974 (+)	NCBI		CHM1_1

Hexb
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	13	97,312,839 - 97,334,865 (-)	NCBI	GRCm39		mm39
GRCm38	13	97,176,331 - 97,198,357 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	13	97,176,331 - 97,198,357 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	13	97,946,286 - 97,968,312 (-)	NCBI	GRCm37		mm9	NCBIm37
MGSCv36	13	98,277,106 - 98,298,969 (-)	NCBI			mm8
Celera	13	100,809,364 - 100,830,755 (-)	NCBI		Celera
Cytogenetic Map	13	D1	NCBI
cM Map	13	50.66	NCBI

Hexb
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
mRatBN7.2	2	28,483,997 - 28,504,165 (-)	NCBI
Rnor_6.0 Ensembl	2	27,984,117 - 28,003,186 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_6.0	2	27,983,925 - 28,003,260 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_5.0	2	47,094,814 - 47,114,992 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	2	27,649,188 - 27,672,231 (-)	NCBI	RGSC3.4		rn4	RGSC3.4
RGSC_v3.1	2	27,569,557 - 27,592,600 (-)	NCBI
Celera	2	24,525,921 - 24,545,955 (-)	NCBI		Celera
Cytogenetic Map	2	q12	NCBI

Hexb
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955425	25,942,278 - 25,961,312 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955425	25,942,341 - 25,961,312 (-)	NCBI	ChiLan1.0	ChiLan1.0

HEXB
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
PanPan1.1	5	41,199,681 - 41,232,693 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	5	41,199,681 - 41,232,693 (-)	Ensembl	panpan1.1		panPan2
Mhudiblu_PPA_v0	5	40,589,448 - 40,625,176 (-)	NCBI	Mhudiblu_PPA_v0		panPan3

HEXB
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1 Ensembl	2	57,222,186 - 57,248,417 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
CanFam3.1	2	57,221,809 - 57,248,432 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1

Hexb
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
SpeTri2.0	NW_004936549	1,918,482 - 1,943,665 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

HEXB
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	2	83,744,627 - 83,784,759 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	2	83,745,263 - 83,784,762 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	2	85,331,866 - 85,371,568 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

HEXB
(Chlorocebus sabaeus - African green monkey)

Vervet Assembly	Chr	Position (strand)	Source	Genome Browsers
Vervet Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	4	69,037,532 - 69,065,925 (+)	NCBI
ChlSab1.1 Ensembl	4	69,037,583 - 69,065,814 (+)	Ensembl

Hexb
(Heterocephalus glaber - naked mole-rat)

Molerat Assembly	Chr	Position (strand)	Source	Genome Browsers
Molerat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla 1.0	NW_004624924	195,406 - 219,232 (-)	NCBI

Position Markers

SHGC-32009

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	74,017,101 - 74,017,225	UniSTS	GRCh37
Build 36	5	74,052,857 - 74,052,981	RGD	NCBI36
Celera	5	69,911,857 - 69,911,981	RGD
Cytogenetic Map	5	q13	UniSTS
HuRef	5	69,222,042 - 69,222,166	UniSTS
GeneMap99-GB4 RH Map	5	366.46	UniSTS
Whitehead-RH Map	5	267.5	UniSTS
NCBI RH Map	5	336.5	UniSTS
GeneMap99-G3 RH Map	5	2690.0	UniSTS

RH92711

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	74,001,907 - 74,001,987	UniSTS	GRCh37
Build 36	5	74,037,663 - 74,037,743	RGD	NCBI36
Celera	5	70,088,069 - 70,088,149	UniSTS
Celera	5	69,896,669 - 69,896,749	RGD
HuRef	5	69,206,852 - 69,206,932	UniSTS

D5S1611E

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	74,017,146 - 74,017,339	UniSTS	GRCh37
Build 36	5	74,052,902 - 74,053,095	RGD	NCBI36
Celera	5	69,911,902 - 69,912,095	RGD
Cytogenetic Map	5	q13	UniSTS
HuRef	5	69,222,087 - 69,222,280	UniSTS

STS-R97079

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	74,016,940 - 74,017,062	UniSTS	GRCh37
Build 36	5	74,052,696 - 74,052,818	RGD	NCBI36
Celera	5	69,911,696 - 69,911,818	RGD
Cytogenetic Map	5	q13	UniSTS
HuRef	5	69,221,881 - 69,222,003	UniSTS
GeneMap99-GB4 RH Map	5	365.93	UniSTS
NCBI RH Map	5	336.5	UniSTS

GDB:615686

Human Assembly	Chr	Position (strand)	Source	JBrowse
Cytogenetic Map	5	q13	UniSTS

SGC32640

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	74,014,148 - 74,014,709	UniSTS	GRCh37
Celera	5	69,908,904 - 69,909,465	UniSTS
Cytogenetic Map	5	q13	UniSTS
HuRef	5	69,219,089 - 69,219,650	UniSTS
GeneMap99-GB4 RH Map	5	366.14	UniSTS
Whitehead-RH Map	5	266.2	UniSTS
NCBI RH Map	5	337.4	UniSTS

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	1139
Count of miRNA genes:	604
Interacting mature miRNAs:	646
Transcripts:	ENST00000261416, ENST00000503312, ENST00000504459, ENST00000505859, ENST00000509579, ENST00000510820, ENST00000511181, ENST00000511621, ENST00000513079, ENST00000513336, ENST00000513539, ENST00000513867, ENST00000515528
Prediction methods:	Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Expression

RNA-SEQ Expression

High: > 1000 TPM value Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system

circulatory system

endocrine system

exocrine system

hemolymphoid system

hepatobiliary system

integumental system

musculoskeletal system

nervous system

renal system

reproductive system

respiratory system

sensory system

visual system

adipose tissue

appendage

entire extraembryonic component

pharyngeal arch

High

Medium

2432

2854

1701

604

1875

446

4240

1996

2999

412

1390

1605

171

1204

2673

Low

137

116

201

734

115

Below cutoff

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_009770	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_000521	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001292004	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC026405	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC093214	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF378118	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AH002718	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK122992	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK130002	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK130375	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY643499	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC017378	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BE907813	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BT009919	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471084	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	D10518	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	D10519	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	D10520	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	FJ224336	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	GQ472222	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	GQ891410	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KC877004	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	M13519	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	M19735	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	M34906	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Reference Sequences

RefSeq Acc Id:

ENST00000261416 ⟹ ENSP00000261416

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	5	74,685,233 - 74,721,288 (+)	Ensembl

RefSeq Acc Id:

ENST00000503312 ⟹ ENSP00000426384

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	5	74,716,629 - 74,722,616 (+)	Ensembl

RefSeq Acc Id:

ENST00000504459

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	5	74,713,538 - 74,720,836 (+)	Ensembl

RefSeq Acc Id:

ENST00000505859 ⟹ ENSP00000424550

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	5	74,720,488 - 74,722,647 (+)	Ensembl

RefSeq Acc Id:

ENST00000509579 ⟹ ENSP00000424939

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	5	74,719,989 - 74,721,288 (+)	Ensembl

RefSeq Acc Id:

ENST00000510820

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	5	74,693,475 - 74,705,257 (+)	Ensembl

RefSeq Acc Id:

ENST00000511181 ⟹ ENSP00000426285

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	5	74,640,023 - 74,721,288 (+)	Ensembl

RefSeq Acc Id:

ENST00000511621

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	5	74,715,646 - 74,716,829 (+)	Ensembl

RefSeq Acc Id:

ENST00000513079

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	5	74,685,196 - 74,706,168 (+)	Ensembl

RefSeq Acc Id:

ENST00000513336 ⟹ ENSP00000423713

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	5	74,715,586 - 74,721,288 (+)	Ensembl

RefSeq Acc Id:

ENST00000513539

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	5	74,718,291 - 74,721,287 (+)	Ensembl

RefSeq Acc Id:

ENST00000513867

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	5	74,721,057 - 74,722,629 (+)	Ensembl

RefSeq Acc Id:

ENST00000515528

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	5	74,685,206 - 74,689,849 (+)	Ensembl

RefSeq Acc Id:

NM_000521 ⟹ NP_000512

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	74,685,233 - 74,721,288 (+)	NCBI
GRCh37	5	73,935,547 - 74,017,113 (+)	NCBI
Build 36	5	74,016,767 - 74,052,869 (+)	NCBI Archive
HuRef	5	69,185,979 - 69,222,054 (+)	ENTREZGENE
CHM1_1	5	73,413,670 - 73,449,974 (+)	NCBI

Sequence:

show sequence

GCAGTCATCTGACTCGGTGACTCACCCGCGGCCGCGCTTCCTCTGATCCGGGCCGGGCGGGAAG
TCGGGTCCCGAGGCTCCGGCTCGGCAGACCGGGCGGAAAGCAGCCGAGCGGCCATGGAGCTGTG
CGGGCTGGGGCTGCCCCGGCCGCCCATGCTGCTGGCGCTGCTGTTGGCGACACTGCTGGCGGCG
ATGTTGGCGCTGCTGACTCAGGTGGCGCTGGTGGTGCAGGTGGCGGAGGCGGCTCGGGCCCCGA
GCGTCTCGGCCAAGCCGGGGCCGGCGCTGTGGCCCCTGCCGCTCTCGGTGAAGATGACCCCGAA
CCTGCTGCATCTCGCCCCGGAGAACTTCTACATCAGCCACAGCCCCAATTCCACGGCGGGCCCC
TCCTGCACCCTGCTGGAGGAAGCGTTTCGACGATATCATGGCTATATTTTTGGTTTCTACAAGT
GGCATCATGAACCTGCTGAATTCCAGGCTAAAACCCAGGTTCAGCAACTTCTTGTCTCAATCAC
CCTTCAGTCAGAGTGTGATGCTTTCCCCAACATATCTTCAGATGAGTCTTATACTTTACTTGTG
AAAGAACCAGTGGCTGTCCTTAAGGCCAACAGAGTTTGGGGAGCATTACGAGGTTTAGAGACCT
TTAGCCAGTTAGTTTATCAAGATTCTTATGGAACTTTCACCATCAATGAATCCACCATTATTGA
TTCTCCAAGGTTTTCTCACAGAGGAATTTTGATTGATACATCCAGACATTATCTGCCAGTTAAG
ATTATTCTTAAAACTCTGGATGCCATGGCTTTTAATAAGTTTAATGTTCTTCACTGGCACATAG
TTGATGACCAGTCTTTCCCATATCAGAGCATCACTTTTCCTGAGTTAAGCAATAAAGGAAGCTA
TTCTTTGTCTCATGTTTATACACCAAATGATGTCCGTATGGTGATTGAATATGCCAGATTACGA
GGAATTCGAGTCCTGCCAGAATTTGATACCCCTGGGCATACACTATCTTGGGGAAAAGGTCAGA
AAGACCTCCTGACTCCATGTTACAGTAGACAAAACAAGTTGGACTCTTTTGGACCTATAAACCC
TACTCTGAATACAACATACAGCTTCCTTACTACATTTTTCAAAGAAATTAGTGAGGTGTTTCCA
GATCAATTCATTCATTTGGGAGGAGATGAAGTGGAATTTAAATGTTGGGAATCAAATCCAAAAA
TTCAAGATTTCATGAGGCAAAAAGGCTTTGGCACAGATTTTAAGAAACTAGAATCTTTCTACAT
TCAAAAGGTTTTGGATATTATTGCAACCATAAACAAGGGATCCATTGTCTGGCAGGAGGTTTTT
GATGATAAAGCAAAGCTTGCGCCGGGCACAATAGTTGAAGTATGGAAAGACAGCGCATATCCTG
AGGAACTCAGTAGAGTCACAGCATCTGGCTTCCCTGTAATCCTTTCTGCTCCTTGGTACTTAGA
TTTGATTAGCTATGGACAAGATTGGAGGAAATACTATAAAGTGGAACCTCTTGATTTTGGCGGT
ACTCAGAAACAGAAACAACTTTTCATTGGTGGAGAAGCTTGTCTATGGGGAGAATATGTGGATG
CAACTAACCTCACTCCAAGATTATGGCCTCGGGCAAGTGCTGTTGGTGAGAGACTCTGGAGTTC
CAAAGATGTCAGAGATATGGATGACGCCTATGACAGACTGACAAGGCACCGCTGCAGGATGGTC
GAACGTGGAATAGCTGCACAACCTCTTTATGCTGGATATTGTAACCATGAGAACATGTAAAAAA
TGGAGGGGAAAAAGGCCACAGCAATCTGTACTACAATCAACTTTATTTTGAAATCATGTAAAAT
AAGATATTAGACTGTTTTTTGAATAAAATATTTTTATTGATTGAAAAAAAAAAAAAAAAAAAA

hide sequence

RefSeq Acc Id:

NM_001292004 ⟹ NP_001278933

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	74,640,023 - 74,721,288 (+)	NCBI
CHM1_1	5	73,368,412 - 73,449,974 (+)	NCBI

Sequence:

show sequence

GTATCCTTAGCTCGGCTCCTCGCTTCCCCAGCGGCTCGCCCCAGACATTGCACCGCGGAGGGGA
GGCCGGTCGACCTCTCCGGCGATGCCCGGCTTCTGCCTGCTGTGGGAGGGCAGCGGCGGGCACC
GTGATCTCCGCACCGAGAAGAGCTCCCCTTGCCCTCTAGTCGAAGCTCCCGAGTGCTCGGAGCA
CGCTCACCCCTCGCGAACACACCCCTGCAGCCGAAGCAGCCCCTGAAGCCCGCAGCGCCTGCAA
CAGGTCCGGGGCAGTGGGGGAAACTTACAGCAGTGGCGACTGGCCGCAACGCACAACTGAGTTC
TAGCGACGGTCACGGGCAAGGAGGCGACGAACCGGTCGTCTCAGCCCAGGGAAGCGGTGGCGAA
TGCCCCGGAGAAAGGAGGGCCAGCCGGGGAGAGGACTGCGCCCCGAACGATGGCTCGCGGACCG
GCTACCGATGGCGTTCGCCTCCGTCTGTCGTCCCCACGCCGCGGACCCGGTGTCCAGGACCCGC
AGAGCGTCTCCGGAGCGCGTCACGATATCATGGCTATATTTTTGGTTTCTACAAGTGGCATCAT
GAACCTGCTGAATTCCAGGCTAAAACCCAGGTTCAGCAACTTCTTGTCTCAATCACCCTTCAGT
CAGAGTGTGATGCTTTCCCCAACATATCTTCAGATGAGTCTTATACTTTACTTGTGAAAGAACC
AGTGGCTGTCCTTAAGGCCAACAGAGTTTGGGGAGCATTACGAGGTTTAGAGACCTTTAGCCAG
TTAGTTTATCAAGATTCTTATGGAACTTTCACCATCAATGAATCCACCATTATTGATTCTCCAA
GGTTTTCTCACAGAGGAATTTTGATTGATACATCCAGACATTATCTGCCAGTTAAGATTATTCT
TAAAACTCTGGATGCCATGGCTTTTAATAAGTTTAATGTTCTTCACTGGCACATAGTTGATGAC
CAGTCTTTCCCATATCAGAGCATCACTTTTCCTGAGTTAAGCAATAAAGGAAGCTATTCTTTGT
CTCATGTTTATACACCAAATGATGTCCGTATGGTGATTGAATATGCCAGATTACGAGGAATTCG
AGTCCTGCCAGAATTTGATACCCCTGGGCATACACTATCTTGGGGAAAAGGTCAGAAAGACCTC
CTGACTCCATGTTACAGTAGACAAAACAAGTTGGACTCTTTTGGACCTATAAACCCTACTCTGA
ATACAACATACAGCTTCCTTACTACATTTTTCAAAGAAATTAGTGAGGTGTTTCCAGATCAATT
CATTCATTTGGGAGGAGATGAAGTGGAATTTAAATGTTGGGAATCAAATCCAAAAATTCAAGAT
TTCATGAGGCAAAAAGGCTTTGGCACAGATTTTAAGAAACTAGAATCTTTCTACATTCAAAAGG
TTTTGGATATTATTGCAACCATAAACAAGGGATCCATTGTCTGGCAGGAGGTTTTTGATGATAA
AGCAAAGCTTGCGCCGGGCACAATAGTTGAAGTATGGAAAGACAGCGCATATCCTGAGGAACTC
AGTAGAGTCACAGCATCTGGCTTCCCTGTAATCCTTTCTGCTCCTTGGTACTTAGATTTGATTA
GCTATGGACAAGATTGGAGGAAATACTATAAAGTGGAACCTCTTGATTTTGGCGGTACTCAGAA
ACAGAAACAACTTTTCATTGGTGGAGAAGCTTGTCTATGGGGAGAATATGTGGATGCAACTAAC
CTCACTCCAAGATTATGGCCTCGGGCAAGTGCTGTTGGTGAGAGACTCTGGAGTTCCAAAGATG
TCAGAGATATGGATGACGCCTATGACAGACTGACAAGGCACCGCTGCAGGATGGTCGAACGTGG
AATAGCTGCACAACCTCTTTATGCTGGATATTGTAACCATGAGAACATGTAAAAAATGGAGGGG
AAAAAGGCCACAGCAATCTGTACTACAATCAACTTTATTTTGAAATCATGTAAAATAAGATATT
AGACTGTTTTTTGAATAAAATATTTTTATTGATTGAAAAAAAAAAAAAAAAAAAA

hide sequence

Protein Sequences


Protein RefSeqs	NP_000512	(Get FASTA)	NCBI Sequence Viewer
	NP_001278933	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAA51828	(Get FASTA)	NCBI Sequence Viewer
	AAA51829	(Get FASTA)	NCBI Sequence Viewer
	AAA52645	(Get FASTA)	NCBI Sequence Viewer
	AAA68620	(Get FASTA)	NCBI Sequence Viewer
	AAH17378	(Get FASTA)	NCBI Sequence Viewer
	AAM46114	(Get FASTA)	NCBI Sequence Viewer
	AAP88921	(Get FASTA)	NCBI Sequence Viewer
	AAV48875	(Get FASTA)	NCBI Sequence Viewer
	ACI46028	(Get FASTA)	NCBI Sequence Viewer
	ACV87197	(Get FASTA)	NCBI Sequence Viewer
	ADO22272	(Get FASTA)	NCBI Sequence Viewer
	EAW95741	(Get FASTA)	NCBI Sequence Viewer
	EAW95742	(Get FASTA)	NCBI Sequence Viewer
	P07686	(Get FASTA)	NCBI Sequence Viewer

Reference Sequences

RefSeq Acc Id:

NP_000512 ⟸ NM_000521

- Peptide Label:

isoform 1 preproprotein

- Sequence:

show sequence

MELCGLGLPRPPMLLALLLATLLAAMLALLTQVALVVQVAEAARAPSVSAKPGPALWPLPLSVK
MTPNLLHLAPENFYISHSPNSTAGPSCTLLEEAFRRYHGYIFGFYKWHHEPAEFQAKTQVQQLL
VSITLQSECDAFPNISSDESYTLLVKEPVAVLKANRVWGALRGLETFSQLVYQDSYGTFTINES
TIIDSPRFSHRGILIDTSRHYLPVKIILKTLDAMAFNKFNVLHWHIVDDQSFPYQSITFPELSN
KGSYSLSHVYTPNDVRMVIEYARLRGIRVLPEFDTPGHTLSWGKGQKDLLTPCYSRQNKLDSFG
PINPTLNTTYSFLTTFFKEISEVFPDQFIHLGGDEVEFKCWESNPKIQDFMRQKGFGTDFKKLE
SFYIQKVLDIIATINKGSIVWQEVFDDKAKLAPGTIVEVWKDSAYPEELSRVTASGFPVILSAP
WYLDLISYGQDWRKYYKVEPLDFGGTQKQKQLFIGGEACLWGEYVDATNLTPRLWPRASAVGER
LWSSKDVRDMDDAYDRLTRHRCRMVERGIAAQPLYAGYCNHENM

hide sequence

RefSeq Acc Id:	NP_001278933 ⟸ NM_001292004
- Peptide Label:	isoform 2
- UniProtKB:	P07686 (UniProtKB/Swiss-Prot), Q5URX0 (UniProtKB/TrEMBL)
- Sequence:	show sequence MAFNKFNVLHWHIVDDQSFPYQSITFPELSNKGSYSLSHVYTPNDVRMVIEYARLRGIRVLPEF DTPGHTLSWGKGQKDLLTPCYSRQNKLDSFGPINPTLNTTYSFLTTFFKEISEVFPDQFIHLGG DEVEFKCWESNPKIQDFMRQKGFGTDFKKLESFYIQKVLDIIATINKGSIVWQEVFDDKAKLAP GTIVEVWKDSAYPEELSRVTASGFPVILSAPWYLDLISYGQDWRKYYKVEPLDFGGTQKQKQLF IGGEACLWGEYVDATNLTPRLWPRASAVGERLWSSKDVRDMDDAYDRLTRHRCRMVERGIAAQP LYAGYCNHENM hide sequence

RefSeq Acc Id:

ENSP00000426384 ⟸ ENST00000503312

RefSeq Acc Id:

ENSP00000424550 ⟸ ENST00000505859

RefSeq Acc Id:

ENSP00000424939 ⟸ ENST00000509579

RefSeq Acc Id:

ENSP00000426285 ⟸ ENST00000511181

RefSeq Acc Id:

ENSP00000261416 ⟸ ENST00000261416

RefSeq Acc Id:

ENSP00000423713 ⟸ ENST00000513336

Protein Domains

Glyco_hydro_20 Glycohydro_20b2

Promoters

RGD ID:

6803245

Promoter ID:

HG_KWN:50469

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4

Transcripts:

NM_000521, UC003KDE.2, UC010IZH.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	5	74,016,609 - 74,017,109 (+)	MPROMDB

RGD ID:

6853110

Promoter ID:

EP74376

Type:

initiation region

Name:

HS_HEXB

Description:

Hexosaminidase B (beta polypeptide).

SO ACC ID:

SO:0000170

Source:

EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Experiment Methods:

Mammalian gene collection (MGC) full-length cDNA cloning

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	5	74,016,831 - 74,016,891	EPD

RGD ID:

6869876

Promoter ID:

EPDNEW_H8103

Type:

initiation region

Name:

HEXB_1

Description:

hexosaminidase subunit beta

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	74,685,233 - 74,685,293	EPDNEW

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
nsv513799	deletion	Sandhoff disease [RCV000004077]	Chr5:5q13	pathogenic
NM_000521.4(HEXB):c.362A>G (p.Lys121Arg)	single nucleotide variant	HEXB POLYMORPHISM [RCV000004078]\|Sandhoff disease [RCV000336190]\|not provided [RCV000675618]\|not specified [RCV000079063]	Chr5:74689390 [GRCh38] Chr5:73985215 [GRCh37] Chr5:5q13.3	benign\|likely benign
HEXB, 24-BP INS	insertion	Sandhoff disease, juvenile type [RCV000004079]	Chr5:5q13	pathogenic
HEXB, 18-BP INS	insertion	Hexosaminidase B (paris) [RCV000004080]	Chr5:5q13	pathogenic
NM_000521.4(HEXB):c.1367A>C (p.Tyr456Ser)	single nucleotide variant	Sandhoff disease [RCV000675054]\|Sandhoff disease, juvenile type [RCV000004081]	Chr5:74718921 [GRCh38] Chr5:74014746 [GRCh37] Chr5:5q13.3	pathogenic\|uncertain significance
NM_000521.4(HEXB):c.1250C>T (p.Pro417Leu)	single nucleotide variant	Sandhoff disease [RCV000174009]\|Sandhoff disease, adult type [RCV000004084]\|Sandhoff disease, juvenile type [RCV000004082]\|not provided [RCV000079058]	Chr5:74718804 [GRCh38] Chr5:74014629 [GRCh37] Chr5:5q13.3	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity
NM_000521.4(HEXB):c.1514G>A (p.Arg505Gln)	single nucleotide variant	Sandhoff disease [RCV000669552]\|Sandhoff disease, adult type [RCV000004083]	Chr5:74720648 [GRCh38] Chr5:74016473 [GRCh37] Chr5:5q13.3	pathogenic\|likely pathogenic
NM_000521.4(HEXB):c.1627G>A (p.Ala543Thr)	single nucleotide variant	HEXOSAMINIDASE B, HEAT-LABILE POLYMORPHISM [RCV000004085]\|Sandhoff disease [RCV000987527]\|not provided [RCV000079061]	Chr5:74721131 [GRCh38] Chr5:74016956 [GRCh37] Chr5:5q13.3	benign\|likely benign\|other\|not provided
NM_000521.3(HEXB):c.185C>T (p.Ser62Leu)	single nucleotide variant	Sandhoff disease [RCV000869482]\|Sandhoff disease, infantile type [RCV000004086]	Chr5:74685445 [GRCh38] Chr5:73981270 [GRCh37] Chr5:5q13.3	pathogenic\|benign
HEXB, PARTIAL DEL	deletion	Sandhoff disease, infantile type [RCV000004087]	Chr5:5q13	pathogenic
NM_000521.4(HEXB):c.1510C>T (p.Pro504Ser)	single nucleotide variant	Sandhoff disease [RCV001238377]\|Sandhoff disease, chronic [RCV000004088]	Chr5:74720644 [GRCh38] Chr5:74016469 [GRCh37] Chr5:5q13.3	pathogenic\|likely pathogenic
NM_000521.4(HEXB):c.1082+5G>C	single nucleotide variant	Sandhoff disease, infantile type [RCV000004089]	Chr5:74715695 [GRCh38] Chr5:74011520 [GRCh37] Chr5:5q13.3	pathogenic
NM_000521.4(HEXB):c.76del (p.Met26fs)	deletion	Sandhoff disease, infantile type [RCV000004090]	Chr5:74685336 [GRCh38] Chr5:73981161 [GRCh37] Chr5:5q13.3	pathogenic
NM_000521.4(HEXB):c.850C>T (p.Arg284Ter)	single nucleotide variant	Sandhoff disease [RCV000184012]\|Sandhoff disease, infantile type [RCV000004091]\|not provided [RCV000579011]	Chr5:74713584 [GRCh38] Chr5:74009409 [GRCh37] Chr5:5q13.3	pathogenic\|likely pathogenic
NM_000521.4:c.965del	deletion	Sandhoff disease, infantile [RCV000004092]	Chr5:5q13	pathogenic
GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3	copy number gain	See cases [RCV000051839]	Chr5:74163186..110809453 [GRCh38] Chr5:73459011..110145153 [GRCh37] Chr5:73494767..110173052 [NCBI36] Chr5:5q13.3-22.1	pathogenic
NM_000521.4(HEXB):c.115del (p.Val39fs)	deletion	Sandhoff disease [RCV001004173]\|not provided [RCV000173146]	Chr5:74685374 [GRCh38] Chr5:73981199 [GRCh37] Chr5:5q13.3	pathogenic
NM_000521.4(HEXB):c.1169+3_1169+10del	deletion	Sandhoff disease [RCV001028022]\|not provided [RCV000079055]	Chr5:74716675..74716682 [GRCh38] Chr5:74012500..74012507 [GRCh37] Chr5:5q13.3	pathogenic\|uncertain significance
NM_000521.4(HEXB):c.1234_1238AAAGC[1] (p.Lys414fs)	deletion	not provided [RCV000173703]	Chr5:74718355..74718359 [GRCh38] Chr5:74014180..74014184 [GRCh37] Chr5:5q13.3	pathogenic
NM_000521.4(HEXB):c.1243-2A>G	single nucleotide variant	Sandhoff disease [RCV000174010]\|not provided [RCV000079057]	Chr5:74718795 [GRCh38] Chr5:74014620 [GRCh37] Chr5:5q13.3	pathogenic\|likely pathogenic
NM_000521.4(HEXB):c.1375G>T (p.Asp459Tyr)	single nucleotide variant	not provided [RCV000174011]	Chr5:74718929 [GRCh38] Chr5:74014754 [GRCh37] Chr5:5q13.3	likely pathogenic
NM_000521.4(HEXB):c.1614-14C>A	single nucleotide variant	Sandhoff disease [RCV000673104]\|not specified [RCV000079060]	Chr5:74721104 [GRCh38] Chr5:74016929 [GRCh37] Chr5:5q13.3	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_000521.4(HEXB):c.1645G>A (p.Gly549Arg)	single nucleotide variant	not provided [RCV000079062]	Chr5:74721149 [GRCh38] Chr5:74016974 [GRCh37] Chr5:5q13.3	uncertain significance
NM_000521.4(HEXB):c.587A>C (p.Asp196Ala)	single nucleotide variant	not provided [RCV000079064]	Chr5:74697024 [GRCh38] Chr5:73992849 [GRCh37] Chr5:5q13.3	uncertain significance
NM_000521.4(HEXB):c.619A>G (p.Ile207Val)	single nucleotide variant	HEXB POLYMORPHISM [RCV000235014]\|Sandhoff disease [RCV000403428]\|not provided [RCV000675619]\|not specified [RCV000079065]	Chr5:74697056 [GRCh38] Chr5:73992881 [GRCh37] Chr5:5q13.3	benign\|likely benign\|conflicting interpretations of pathogenicity\|conflicting data from submitters
NM_000521.4(HEXB):c.772-4A>G	single nucleotide variant	Sandhoff disease [RCV000351167]\|not provided [RCV000590368]\|not specified [RCV000079066]	Chr5:74713502 [GRCh38] Chr5:74009327 [GRCh37] Chr5:5q13.3	benign\|likely benign
NM_000521.4(HEXB):c.797A>G (p.Tyr266Cys)	single nucleotide variant	not provided [RCV000179766]	Chr5:74713531 [GRCh38] Chr5:74009356 [GRCh37] Chr5:5q13.3	likely pathogenic
NM_000521.4(HEXB):c.895G>A (p.Gly299Arg)	single nucleotide variant	not provided [RCV000079068]	Chr5:74713629 [GRCh38] Chr5:74009454 [GRCh37] Chr5:5q13.3	uncertain significance
NM_000521.3(HEXB):c.902-50delT	deletion	AllHighlyPenetrant [RCV000079069]\|not specified [RCV000079069]	Chr5:74715460 [GRCh38] Chr5:74011285 [GRCh37] Chr5:5q13.3	benign
NM_000521.4(HEXB):c.1051T>C (p.Leu351=)	single nucleotide variant	Sandhoff disease [RCV000397650]\|not specified [RCV000117218]	Chr5:74715659 [GRCh38] Chr5:74011484 [GRCh37] Chr5:5q13.3	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000521.4(HEXB):c.214C>T (p.Leu72Phe)	single nucleotide variant	Sandhoff disease [RCV001082206]\|not provided [RCV000224126]\|not specified [RCV000117219]	Chr5:74685474 [GRCh38] Chr5:73981299 [GRCh37] Chr5:5q13.3	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_000521.4(HEXB):c.1478T>G (p.Val493Gly)	single nucleotide variant	not provided [RCV000174253]	Chr5:74720488 [GRCh38] Chr5:74016313 [GRCh37] Chr5:5q13.3	likely pathogenic
NM_000521.4(HEXB):c.1517_1529dup (p.Glu511fs)	duplication	not provided [RCV000174487]	Chr5:74720648..74720649 [GRCh38] Chr5:74016473..74016474 [GRCh37] Chr5:5q13.3	pathogenic
NM_000521.4(HEXB):c.1531_1532GA[2] (p.Arg512fs)	microsatellite	Sandhoff disease [RCV000174488]\|not provided [RCV000724463]	Chr5:74720665..74720666 [GRCh38] Chr5:74016490..74016491 [GRCh37] Chr5:5q13.3	pathogenic\|likely pathogenic
NM_000521.3(HEXB):c.1616_1617insTTCATGTTATCTACAGAC (p.Arg539_Gly540insSerCysTyrLeuGlnThr)	insertion	not provided [RCV000174689]	Chr5:74721120..74721121 [GRCh38] Chr5:74016945..74016946 [GRCh37] Chr5:5q13.3	uncertain significance
GRCh38/hg38 5q13.3(chr5:74715712-74767984)x3	copy number gain	See cases [RCV000141307]	Chr5:74715712..74767984 [GRCh38] Chr5:74011537..74063809 [GRCh37] Chr5:74047293..74099565 [NCBI36] Chr5:5q13.3	uncertain significance
NM_000521.4(HEXB):c.185T>C (p.Leu62Ser)	single nucleotide variant	Sandhoff disease [RCV000987526]\|not specified [RCV000153357]	Chr5:74685445 [GRCh38] Chr5:73981270 [GRCh37] Chr5:5q13.3	benign
NM_000521.4(HEXB):c.311A>G (p.Tyr104Cys)	single nucleotide variant	Sandhoff disease [RCV001270125]\|not provided [RCV000175617]	Chr5:74689339 [GRCh38] Chr5:73985164 [GRCh37] Chr5:5q13.3	uncertain significance
NM_000521.4(HEXB):c.771+5G>C	single nucleotide variant	not provided [RCV000179319]	Chr5:74705325 [GRCh38] Chr5:74001150 [GRCh37] Chr5:5q13.3	likely pathogenic\|uncertain significance
NM_000521.4(HEXB):c.1601G>T (p.Cys534Phe)	single nucleotide variant	not provided [RCV000153359]	Chr5:74720735 [GRCh38] Chr5:74016560 [GRCh37] Chr5:5q13.3	uncertain significance
NM_000521.4(HEXB):c.1652G>A (p.Cys551Tyr)	single nucleotide variant	Sandhoff disease [RCV000674784]\|not provided [RCV000153360]	Chr5:74721156 [GRCh38] Chr5:74016981 [GRCh37] Chr5:5q13.3	uncertain significance
NM_001292004.1(HEXB):c.-377+8338A>G	single nucleotide variant	Lung cancer [RCV000096167]	Chr5:74648896 [GRCh38] Chr5:73944721 [GRCh37] Chr5:5q13.3	uncertain significance
NM_000521.4(HEXB):c.127G>T (p.Ala43Ser)	single nucleotide variant	Sandhoff disease [RCV000671169]\|not specified [RCV000194629]	Chr5:74685387 [GRCh38] Chr5:73981212 [GRCh37] Chr5:5q13.3	uncertain significance
NM_000521.4(HEXB):c.298del (p.Arg100fs)	deletion	Sandhoff disease [RCV000668469]\|not provided [RCV000255439]	Chr5:74685558 [GRCh38] Chr5:73981383 [GRCh37] Chr5:5q13.3	pathogenic\|likely pathogenic
NM_000521.4(HEXB):c.1418-12_1418del	deletion	Sandhoff disease [RCV000669423]	Chr5:74720415..74720427 [GRCh38] Chr5:74016240..74016252 [GRCh37] Chr5:5q13.3	likely pathogenic
NM_000521.4(HEXB):c.449C>A (p.Thr150Asn)	single nucleotide variant	Sandhoff disease [RCV001085568]\|not provided [RCV000224288]\|not specified [RCV000246282]	Chr5:74693642 [GRCh38] Chr5:73989467 [GRCh37] Chr5:5q13.3	benign
NM_000521.4(HEXB):c.1559_1560GA[4] (p.Asp521fs)	microsatellite	Sandhoff disease [RCV000669540]	Chr5:74720691..74720692 [GRCh38] Chr5:74016516..74016517 [GRCh37] Chr5:5q13.3	likely pathogenic
NM_000521.4(HEXB):c.558+5G>A	single nucleotide variant	Sandhoff disease [RCV000669675]	Chr5:74696744 [GRCh38] Chr5:73992569 [GRCh37] Chr5:5q13.3	conflicting interpretations of pathogenicity\|uncertain significance
NM_000521.4(HEXB):c.118del (p.Ala40fs)	deletion	Sandhoff disease [RCV000669727]	Chr5:74685377 [GRCh38] Chr5:73981202 [GRCh37] Chr5:5q13.3	likely pathogenic
NM_000521.4(HEXB):c.300-32C>T	single nucleotide variant	not specified [RCV000248560]	Chr5:74689296 [GRCh38] Chr5:73985121 [GRCh37] Chr5:5q13.3	benign
NM_000521.4(HEXB):c.902-48del	deletion	not specified [RCV000250878]	Chr5:74715460 [GRCh38] Chr5:74011285 [GRCh37] Chr5:5q13.3	benign
NM_000521.4(HEXB):c.508C>T (p.Arg170Ter)	single nucleotide variant	Sandhoff disease [RCV000286253]\|not provided [RCV000723437]	Chr5:74693701 [GRCh38] Chr5:73989526 [GRCh37] Chr5:5q13.3	pathogenic\|likely pathogenic
NM_000521.4(HEXB):c.300-46T>A	single nucleotide variant	not specified [RCV000251490]	Chr5:74689282 [GRCh38] Chr5:73985107 [GRCh37] Chr5:5q13.3	benign
NM_000521.4(HEXB):c.1082+26T>A	single nucleotide variant	not specified [RCV000247070]	Chr5:74715716 [GRCh38] Chr5:74011541 [GRCh37] Chr5:5q13.3	benign
NM_000521.4(HEXB):c.1258A>G (p.Ile420Val)	single nucleotide variant	Sandhoff disease [RCV000268566]\|not provided [RCV000514555]\|not specified [RCV000252021]	Chr5:74718812 [GRCh38] Chr5:74014637 [GRCh37] Chr5:5q13.3	benign\|likely benign
NM_000521.4(HEXB):c.558+45G>A	single nucleotide variant	not specified [RCV000249577]	Chr5:74696784 [GRCh38] Chr5:73992609 [GRCh37] Chr5:5q13.3	benign
NM_000521.4(HEXB):c.445+1G>C	single nucleotide variant	Sandhoff disease [RCV000709991]\|not specified [RCV000248071]	Chr5:74689474 [GRCh38] Chr5:73985299 [GRCh37] Chr5:5q13.3	pathogenic\|likely pathogenic\|benign
NM_000521.4(HEXB):c.446-13A>G	single nucleotide variant	not specified [RCV000253018]	Chr5:74693626 [GRCh38] Chr5:73989451 [GRCh37] Chr5:5q13.3	likely benign
NM_000521.4(HEXB):c.842G>A (p.Arg281Gln)	single nucleotide variant	Sandhoff disease [RCV000397655]	Chr5:74713576 [GRCh38] Chr5:74009401 [GRCh37] Chr5:5q13.3	uncertain significance
NM_000521.4(HEXB):c.1248G>A (p.Ala416=)	single nucleotide variant	Sandhoff disease [RCV000363000]	Chr5:74718802 [GRCh38] Chr5:74014627 [GRCh37] Chr5:5q13.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000521.4(HEXB):c.1082+5G>A	single nucleotide variant	Sandhoff disease [RCV000308357]	Chr5:74715695 [GRCh38] Chr5:74011520 [GRCh37] Chr5:5q13.3	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity
NM_000521.4(HEXB):c.*105T>C	single nucleotide variant	Sandhoff disease [RCV000278139]	Chr5:74721280 [GRCh38] Chr5:74017105 [GRCh37] Chr5:5q13.3	uncertain significance
NM_000521.4(HEXB):c.1612G>A (p.Glu538Lys)	single nucleotide variant	Sandhoff disease [RCV000359685]	Chr5:74720746 [GRCh38] Chr5:74016571 [GRCh37] Chr5:5q13.3	uncertain significance
NM_000521.4(HEXB):c.1035A>C (p.Pro345=)	single nucleotide variant	Sandhoff disease [RCV000366647]	Chr5:74715643 [GRCh38] Chr5:74011468 [GRCh37] Chr5:5q13.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000521.4(HEXB):c.918G>C (p.Leu306=)	single nucleotide variant	Sandhoff disease [RCV000311611]	Chr5:74715526 [GRCh38] Chr5:74011351 [GRCh37] Chr5:5q13.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000521.4(HEXB):c.*40A>C	single nucleotide variant	Sandhoff disease [RCV000317974]	Chr5:74721215 [GRCh38] Chr5:74017040 [GRCh37] Chr5:5q13.3	likely benign\|uncertain significance
NM_000521.4(HEXB):c.552T>G (p.Tyr184Ter)	single nucleotide variant	Sandhoff disease [RCV000666419]\|not provided [RCV000372047]	Chr5:74696733 [GRCh38] Chr5:73992558 [GRCh37] Chr5:5q13.3	pathogenic\|likely pathogenic
NM_000521.4(HEXB):c.82_83del	deletion	Sandhoff disease [RCV000372579]	Chr5:74721256..74721257 [GRCh38] Chr5:74017081..74017082 [GRCh37] Chr5:5q13.3	likely benign
NM_000521.4(HEXB):c.78G>A (p.Met26Ile)	single nucleotide variant	Sandhoff disease [RCV000281221]	Chr5:74685338 [GRCh38] Chr5:73981163 [GRCh37] Chr5:5q13.3	uncertain significance
NM_000521.4(HEXB):c.833C>T (p.Ala278Val)	single nucleotide variant	Sandhoff disease [RCV000784909]\|not provided [RCV000312602]	Chr5:74713567 [GRCh38] Chr5:74009392 [GRCh37] Chr5:5q13.3	uncertain significance
NM_000521.4(HEXB):c.1613+14del	deletion	Sandhoff disease [RCV000265045]	Chr5:74720760 [GRCh38] Chr5:74016585 [GRCh37] Chr5:5q13.3	uncertain significance
NM_000521.4(HEXB):c.1023_1026del (p.Ser341fs)	deletion	Sandhoff disease [RCV000390326]\|not provided [RCV000723406]	Chr5:74715629..74715632 [GRCh38] Chr5:74011454..74011457 [GRCh37] Chr5:5q13.3	pathogenic\|likely pathogenic
NM_000521.4(HEXB):c.1045A>G (p.Ile349Val)	single nucleotide variant	Sandhoff disease [RCV001279184]	Chr5:74715653 [GRCh38] Chr5:74011478 [GRCh37] Chr5:5q13.3	uncertain significance
NM_000521.4(HEXB):c.-126C>T	single nucleotide variant	Sandhoff disease [RCV000343015]\|not provided [RCV000841649]	Chr5:74685135 [GRCh38] Chr5:73980960 [GRCh37] Chr5:5q13.3	benign
NM_001292004.2(HEXB):c.-376-4119C>A	single nucleotide variant	Sandhoff disease [RCV000320555]	Chr5:74685209 [GRCh38] Chr5:73981034 [GRCh37] Chr5:5q13.3	uncertain significance
NM_000521.4(HEXB):c.670-14_670-13del	microsatellite	Sandhoff disease [RCV000296290]	Chr5:74705203..74705204 [GRCh38] Chr5:74001028..74001029 [GRCh37] Chr5:5q13.3	uncertain significance
NM_001292004.1(HEXB):c.-376-4189del	deletion	Sandhoff disease [RCV000406221]	Chr5:74685139 [GRCh38] Chr5:73980964 [GRCh37] Chr5:5q13.3	benign
NM_000521.4(HEXB):c.-14G>A	single nucleotide variant	Sandhoff disease [RCV000375729]	Chr5:74685247 [GRCh38] Chr5:73981072 [GRCh37] Chr5:5q13.3	uncertain significance
NM_000521.4(HEXB):c.978G>C (p.Leu326=)	single nucleotide variant	Sandhoff disease [RCV000896988]\|not specified [RCV000587177]	Chr5:74715586 [GRCh38] Chr5:74011411 [GRCh37] Chr5:5q13.3	likely benign\|uncertain significance
NM_000521.4(HEXB):c.274_277dup (p.Leu93fs)	duplication	not provided [RCV000414696]	Chr5:74685532..74685533 [GRCh38] Chr5:73981357..73981358 [GRCh37] Chr5:5q13.3	pathogenic
NM_000521.4(HEXB):c.838T>A (p.Leu280Ile)	single nucleotide variant	not specified [RCV000414653]	Chr5:74713572 [GRCh38] Chr5:74009397 [GRCh37] Chr5:5q13.3	uncertain significance
NM_000521.4(HEXB):c.272G>C (p.Cys91Ser)	single nucleotide variant	Sandhoff disease [RCV000415095]	Chr5:74685532 [GRCh38] Chr5:73981357 [GRCh37] Chr5:5q13.3	uncertain significance
NM_000521.4(HEXB):c.1417G>A (p.Gly473Ser)	single nucleotide variant	Sandhoff disease [RCV000984275]\|not provided [RCV000414444]	Chr5:74718971 [GRCh38] Chr5:74014796 [GRCh37] Chr5:5q13.3	likely pathogenic\|uncertain significance
NM_000521.4(HEXB):c.299G>C (p.Arg100Pro)	single nucleotide variant	Sandhoff disease [RCV000449491]	Chr5:74685559 [GRCh38] Chr5:73981384 [GRCh37] Chr5:5q13.3	pathogenic
GRCh37/hg19 5q13.3(chr5:73979022-73993252)x1	copy number loss	See cases [RCV000447398]	Chr5:73979022..73993252 [GRCh37] Chr5:5q13.3	conflicting data from submitters
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	copy number gain	See cases [RCV000510723]	Chr5:113577..180719789 [GRCh37] Chr5:5p15.33-q35.3	pathogenic
NM_000521.4(HEXB):c.796T>G (p.Tyr266Asp)	single nucleotide variant	Sandhoff disease [RCV000669074]\|not provided [RCV000427051]	Chr5:74713530 [GRCh38] Chr5:74009355 [GRCh37] Chr5:5q13.3	likely pathogenic
NM_000521.4(HEXB):c.1630C>A (p.Gln544Lys)	single nucleotide variant	not provided [RCV000482174]	Chr5:74721134 [GRCh38] Chr5:74016959 [GRCh37] Chr5:5q13.3	uncertain significance
NM_000521.4(HEXB):c.1597C>T (p.Arg533Cys)	single nucleotide variant	Sandhoff disease [RCV000502357]	Chr5:74720731 [GRCh38] Chr5:74016556 [GRCh37] Chr5:5q13.3	pathogenic\|likely pathogenic
NM_000521.4(HEXB):c.778T>C (p.Tyr260His)	single nucleotide variant	Sandhoff disease [RCV000500181]	Chr5:74713512 [GRCh38] Chr5:74009337 [GRCh37] Chr5:5q13.3	likely pathogenic
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	copy number loss	See cases [RCV000511978]	Chr5:17628741..176575720 [GRCh37] Chr5:5p15.1-q35.2	pathogenic
NM_000521.4(HEXB):c.170G>A (p.Trp57Ter)	single nucleotide variant	Sandhoff disease [RCV000491131]	Chr5:74685430 [GRCh38] Chr5:73981255 [GRCh37] Chr5:5q13.3	pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	copy number gain	See cases [RCV000512039]	Chr5:113577..180719789 [GRCh37] Chr5:5p15.33-q35.3	pathogenic
NC_000005.10:g.(?_74685241)_(74697126_?)del	deletion	Sandhoff disease [RCV000633009]	Chr5:74685241..74697126 [GRCh38] Chr5:73981066..73992951 [GRCh37] Chr5:5q13.3	pathogenic
NM_000521.4(HEXB):c.902-1G>T	single nucleotide variant	Sandhoff disease [RCV000672264]	Chr5:74715509 [GRCh38] Chr5:74011334 [GRCh37] Chr5:5q13.3	likely pathogenic
NM_000521.4(HEXB):c.1614-16_1615dup	duplication	Sandhoff disease [RCV000674261]\|not provided [RCV000596163]	Chr5:74721101..74721102 [GRCh38] Chr5:74016926..74016927 [GRCh37] Chr5:5q13.3	uncertain significance
NM_000521.4(HEXB):c.61_72del (p.Thr21_Ala24del)	deletion	Sandhoff disease [RCV000671971]	Chr5:74685316..74685327 [GRCh38] Chr5:73981141..73981152 [GRCh37] Chr5:5q13.3	uncertain significance
NM_000521.4(HEXB):c.715G>A (p.Val239Ile)	single nucleotide variant	Sandhoff disease [RCV000612023]	Chr5:74705264 [GRCh38] Chr5:74001089 [GRCh37] Chr5:5q13.3	uncertain significance
NM_000521.4(HEXB):c.500G>C (p.Gly167Ala)	single nucleotide variant	Sandhoff disease [RCV000633007]	Chr5:74693693 [GRCh38] Chr5:73989518 [GRCh37] Chr5:5q13.3	uncertain significance
NM_000521.4(HEXB):c.1509-26G>A	single nucleotide variant	Sandhoff disease [RCV000633008]	Chr5:74720617 [GRCh38] Chr5:74016442 [GRCh37] Chr5:5q13.3	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000521.4(HEXB):c.1615C>T (p.Arg539Cys)	single nucleotide variant	Sandhoff disease [RCV000664782]	Chr5:74721119 [GRCh38] Chr5:74016944 [GRCh37] Chr5:5q13.3	uncertain significance
NM_000521.4(HEXB):c.1417+5G>A	single nucleotide variant	Sandhoff disease [RCV000673197]	Chr5:74718976 [GRCh38] Chr5:74014801 [GRCh37] Chr5:5q13.3	uncertain significance
NM_000521.4(HEXB):c.299+1G>A	single nucleotide variant	Sandhoff disease [RCV000664552]	Chr5:74685560 [GRCh38] Chr5:73981385 [GRCh37] Chr5:5q13.3	likely pathogenic
NM_000521.4(HEXB):c.230_232del (p.Phe77del)	deletion	Sandhoff disease [RCV000670595]	Chr5:74685488..74685490 [GRCh38] Chr5:73981313..73981315 [GRCh37] Chr5:5q13.3	uncertain significance
NM_000521.4(HEXB):c.512-3C>A	single nucleotide variant	Sandhoff disease [RCV000671236]	Chr5:74696690 [GRCh38] Chr5:73992515 [GRCh37] Chr5:5q13.3	uncertain significance
NM_000521.4(HEXB):c.825del (p.Ile275fs)	deletion	Sandhoff disease [RCV000670270]	Chr5:74713558 [GRCh38] Chr5:74009383 [GRCh37] Chr5:5q13.3	likely pathogenic
NM_000521.4(HEXB):c.1303_1304AG[1] (p.Arg435fs)	microsatellite	Sandhoff disease [RCV000669759]	Chr5:74718857..74718858 [GRCh38] Chr5:74014682..74014683 [GRCh37] Chr5:5q13.3	likely pathogenic
NM_000521.4(HEXB):c.1611_1613+2del	deletion	Sandhoff disease [RCV000665204]	Chr5:74720743..74720747 [GRCh38] Chr5:74016568..74016572 [GRCh37] Chr5:5q13.3	likely pathogenic
NM_000521.4(HEXB):c.1389C>G (p.Tyr463Ter)	single nucleotide variant	Sandhoff disease [RCV000673828]	Chr5:74718943 [GRCh38] Chr5:74014768 [GRCh37] Chr5:5q13.3	pathogenic\|likely pathogenic
NM_000521.4(HEXB):c.1425_1430GAAACA[1] (p.476_477KQ[1])	microsatellite	Sandhoff disease [RCV000668414]	Chr5:74720433..74720438 [GRCh38] Chr5:74016258..74016263 [GRCh37] Chr5:5q13.3	uncertain significance
NM_000521.4(HEXB):c.146C>A (p.Ser49Ter)	single nucleotide variant	Sandhoff disease [RCV000671547]	Chr5:74685406 [GRCh38] Chr5:73981231 [GRCh37] Chr5:5q13.3	pathogenic\|likely pathogenic
NM_000521.4(HEXB):c.62_76del (p.Thr21_Ala25del)	deletion	Sandhoff disease [RCV000674477]	Chr5:74685317..74685331 [GRCh38] Chr5:73981142..73981156 [GRCh37] Chr5:5q13.3	uncertain significance
NM_000521.4(HEXB):c.56del (p.Leu19fs)	deletion	Sandhoff disease [RCV000674483]	Chr5:74685315 [GRCh38] Chr5:73981140 [GRCh37] Chr5:5q13.3	likely pathogenic
NM_000521.4(HEXB):c.*4dup (p.Ter557=)	duplication	Sandhoff disease [RCV000667019]	Chr5:74721173..74721174 [GRCh38] Chr5:74016998..74016999 [GRCh37] Chr5:5q13.3	uncertain significance
NM_000521.4(HEXB):c.512-1G>T	single nucleotide variant	Sandhoff disease [RCV000673291]	Chr5:74696692 [GRCh38] Chr5:73992517 [GRCh37] Chr5:5q13.3	likely pathogenic
NM_000521.4(HEXB):c.88_105del (p.Leu30_Leu35del)	deletion	Sandhoff disease [RCV000664678]	Chr5:74685340..74685357 [GRCh38] Chr5:73981165..73981182 [GRCh37] Chr5:5q13.3	uncertain significance
NM_000521.4(HEXB):c.965del (p.Ile322fs)	deletion	Sandhoff disease [RCV000673580]\|Sandhoff disease, infantile type [RCV000004092]	Chr5:74715573 [GRCh38] Chr5:74011398 [GRCh37] Chr5:5q13.3	pathogenic\|likely pathogenic
NM_000521.4(HEXB):c.1614-25_1614-7dup	duplication	Sandhoff disease [RCV000669973]	Chr5:74721092..74721093 [GRCh38] Chr5:74016917..74016918 [GRCh37] Chr5:5q13.3	uncertain significance
NM_000521.4(HEXB):c.448A>C (p.Thr150Pro)	single nucleotide variant	Sandhoff disease [RCV000670728]	Chr5:74693641 [GRCh38] Chr5:73989466 [GRCh37] Chr5:5q13.3	conflicting interpretations of pathogenicity\|uncertain significance
NM_000521.4(HEXB):c.1613+15_1613+18dup	duplication	Sandhoff disease [RCV000671283]	Chr5:74720760..74720761 [GRCh38] Chr5:74016585..74016586 [GRCh37] Chr5:5q13.3	uncertain significance
NM_000521.4(HEXB):c.171del (p.Trp57fs)	deletion	Sandhoff disease [RCV000673881]	Chr5:74685430 [GRCh38] Chr5:73981255 [GRCh37] Chr5:5q13.3	pathogenic
NM_032380.5(GFM2):c.2239dup (p.Thr747fs)	duplication	Sandhoff disease [RCV000673981]	Chr5:74721755..74721756 [GRCh38] Chr5:74017580..74017581 [GRCh37] Chr5:5q13.3	uncertain significance
NM_000521.4(HEXB):c.333G>A (p.Trp111Ter)	single nucleotide variant	Sandhoff disease [RCV000674196]	Chr5:74689361 [GRCh38] Chr5:73985186 [GRCh37] Chr5:5q13.3	pathogenic
NM_032380.5(GFM2):c.2230C>T (p.Arg744Ter)	single nucleotide variant	Sandhoff disease [RCV000671110]	Chr5:74721765 [GRCh38] Chr5:74017590 [GRCh37] Chr5:5q13.3	uncertain significance
NM_000521.4(HEXB):c.133del (p.Ala45fs)	deletion	Sandhoff disease [RCV000667714]	Chr5:74685391 [GRCh38] Chr5:73981216 [GRCh37] Chr5:5q13.3	likely pathogenic
NM_000521.4(HEXB):c.1614-8_1614-6dup	duplication	Sandhoff disease [RCV000672849]	Chr5:74721109..74721110 [GRCh38] Chr5:74016934..74016935 [GRCh37] Chr5:5q13.3	uncertain significance
NM_032380.5(GFM2):c.2296C>T (p.Gln766Ter)	single nucleotide variant	Sandhoff disease [RCV000664438]	Chr5:74721699 [GRCh38] Chr5:74017524 [GRCh37] Chr5:5q13.3	uncertain significance
NM_000521.4(HEXB):c.1627_1638del (p.Ala543_Leu546del)	deletion	Sandhoff disease [RCV000671549]	Chr5:74721130..74721141 [GRCh38] Chr5:74016955..74016966 [GRCh37] Chr5:5q13.3	uncertain significance
NM_000521.4(HEXB):c.300-1G>A	single nucleotide variant	Sandhoff disease [RCV000668508]	Chr5:74689327 [GRCh38] Chr5:73985152 [GRCh37] Chr5:5q13.3	likely pathogenic
NM_000521.4(HEXB):c.343_351del (p.Pro115_Glu117del)	deletion	Sandhoff disease [RCV000667162]	Chr5:74689367..74689375 [GRCh38] Chr5:73985192..73985200 [GRCh37] Chr5:5q13.3	uncertain significance
NM_000521.4(HEXB):c.1575_1590dup (p.Arg531delinsLeuTer)	duplication	Sandhoff disease [RCV000674128]	Chr5:74720708..74720709 [GRCh38] Chr5:74016533..74016534 [GRCh37] Chr5:5q13.3	likely pathogenic
NM_000521.4(HEXB):c.341_343del (p.Glu114_Pro115delinsAla)	deletion	Sandhoff disease [RCV000665099]	Chr5:74689369..74689371 [GRCh38] Chr5:73985194..73985196 [GRCh37] Chr5:5q13.3	uncertain significance
NM_000521.4(HEXB):c.1242G>A (p.Lys414=)	single nucleotide variant	Sandhoff disease [RCV000674299]	Chr5:74718363 [GRCh38] Chr5:74014188 [GRCh37] Chr5:5q13.3	likely pathogenic
NM_000521.4(HEXB):c.70_90del (p.Ala24_Leu30del)	deletion	Sandhoff disease [RCV000674425]	Chr5:74685324..74685344 [GRCh38] Chr5:73981149..73981169 [GRCh37] Chr5:5q13.3	uncertain significance
NM_000521.4(HEXB):c.73_84del (p.Ala25_Ala28del)	deletion	Sandhoff disease [RCV000666620]	Chr5:74685328..74685339 [GRCh38] Chr5:73981153..73981164 [GRCh37] Chr5:5q13.3	uncertain significance
NM_000521.4(HEXB):c.1520del (p.Ser507fs)	deletion	Sandhoff disease [RCV000667704]	Chr5:74720654 [GRCh38] Chr5:74016479 [GRCh37] Chr5:5q13.3	likely pathogenic
NM_000521.4(HEXB):c.1614-16_1622dup	duplication	Sandhoff disease [RCV000685380]	Chr5:74721101..74721102 [GRCh38] Chr5:74016926..74016927 [GRCh37] Chr5:5q13.3	uncertain significance
NM_000521.4(HEXB):c.160C>A (p.Pro54Thr)	single nucleotide variant	Sandhoff disease [RCV000691227]	Chr5:74685420 [GRCh38] Chr5:73981245 [GRCh37] Chr5:5q13.3	uncertain significance
NM_000521.4(HEXB):c.986C>T (p.Thr329Ile)	single nucleotide variant	Sandhoff disease [RCV000688835]	Chr5:74715594 [GRCh38] Chr5:74011419 [GRCh37] Chr5:5q13.3	uncertain significance
NC_000005.10:g.(?_74685261)_(74697106_?)del	deletion	Sandhoff disease [RCV000707942]	Chr5:74685261..74697106 [GRCh38] Chr5:73981086..73992931 [GRCh37] Chr5:5q13.3	pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3	copy number gain	not provided [RCV000744323]	Chr5:25328..180693344 [GRCh37] Chr5:5p15.33-q35.3	pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3	copy number gain	not provided [RCV000744317]	Chr5:13648..180905029 [GRCh37] Chr5:5p15.33-q35.3	pathogenic
GRCh37/hg19 5q13.3(chr5:73980065-73993871)x1	copy number loss	not provided [RCV000744855]	Chr5:73980065..73993871 [GRCh37] Chr5:5q13.3	benign
NM_000521.4(HEXB):c.1082+7T>A	single nucleotide variant	not provided [RCV000976450]	Chr5:74715697 [GRCh38] Chr5:74011522 [GRCh37] Chr5:5q13.3	likely benign
NM_000521.4(HEXB):c.841C>T (p.Arg281Ter)	single nucleotide variant	Sandhoff disease [RCV000761439]	Chr5:74713575 [GRCh38] Chr5:74009400 [GRCh37] Chr5:5q13.3	pathogenic
NM_000521.4(HEXB):c.298C>T (p.Arg100Ter)	single nucleotide variant	Sandhoff disease [RCV000761558]	Chr5:74685558 [GRCh38] Chr5:73981383 [GRCh37] Chr5:5q13.3	pathogenic
NM_000521.4(HEXB):c.42G>A (p.Leu14=)	single nucleotide variant	Sandhoff disease [RCV000975338]	Chr5:74685302 [GRCh38] Chr5:73981127 [GRCh37] Chr5:5q13.3	likely benign
NM_000521.4(HEXB):c.1269A>G (p.Val423=)	single nucleotide variant	Sandhoff disease [RCV000971880]	Chr5:74718823 [GRCh38] Chr5:74014648 [GRCh37] Chr5:5q13.3	likely benign\|conflicting interpretations of pathogenicity
NM_000521.4(HEXB):c.1418-5T>C	single nucleotide variant	Sandhoff disease [RCV000928841]	Chr5:74720423 [GRCh38] Chr5:74016248 [GRCh37] Chr5:5q13.3	likely benign
NM_000521.4(HEXB):c.1029G>A (p.Val343=)	single nucleotide variant	not provided [RCV000927867]	Chr5:74715637 [GRCh38] Chr5:74011462 [GRCh37] Chr5:5q13.3	likely benign
NM_000521.4(HEXB):c.1637T>C (p.Leu546Pro)	single nucleotide variant	Sandhoff disease [RCV001048153]	Chr5:74721141 [GRCh38] Chr5:74016966 [GRCh37] Chr5:5q13.3	uncertain significance
NM_000521.4(HEXB):c.1481A>G (p.Asp494Gly)	single nucleotide variant	Sandhoff disease [RCV001078201]	Chr5:74720491 [GRCh38] Chr5:74016316 [GRCh37] Chr5:5q13.3	pathogenic
NM_000521.4(HEXB):c.64_65del (p.Leu22fs)	deletion	Sandhoff disease [RCV001067035]	Chr5:74685324..74685325 [GRCh38] Chr5:73981149..73981150 [GRCh37] Chr5:5q13.3	pathogenic
NM_000521.4(HEXB):c.1082+2T>C	single nucleotide variant	Sandhoff disease [RCV001038156]	Chr5:74715692 [GRCh38] Chr5:74011517 [GRCh37] Chr5:5q13.3	likely pathogenic
NM_000521.4(HEXB):c.509G>A (p.Arg170Gln)	single nucleotide variant	Sandhoff disease [RCV001271416]\|not specified [RCV000781465]	Chr5:74693702 [GRCh38] Chr5:73989527 [GRCh37] Chr5:5q13.3	uncertain significance
NM_000521.4(HEXB):c.445+1G>A	single nucleotide variant	Sandhoff disease [RCV000781464]	Chr5:74689474 [GRCh38] Chr5:73985299 [GRCh37] Chr5:5q13.3	pathogenic
NM_000521.3:c.-2059_669+1737del	deletion	Sandhoff disease [RCV000781940]	Chr5:5q13.3	pathogenic
NM_000521.4(HEXB):c.16C>T (p.Leu6=)	single nucleotide variant	not provided [RCV000977210]	Chr5:74685276 [GRCh38] Chr5:73981101 [GRCh37] Chr5:5q13.3	likely benign
NM_000521.4(HEXB):c.150C>T (p.Ala50=)	single nucleotide variant	Sandhoff disease [RCV001274211]\|not provided [RCV000941820]	Chr5:74685410 [GRCh38] Chr5:73981235 [GRCh37] Chr5:5q13.3	likely benign\|uncertain significance
NM_000521.4(HEXB):c.69G>A (p.Leu23=)	single nucleotide variant	not provided [RCV000940933]	Chr5:74685329 [GRCh38] Chr5:73981154 [GRCh37] Chr5:5q13.3	likely benign
NM_000521.4(HEXB):c.1243-6T>C	single nucleotide variant	Sandhoff disease [RCV000872703]\|not specified [RCV001175477]	Chr5:74718791 [GRCh38] Chr5:74014616 [GRCh37] Chr5:5q13.3	benign
NM_000521.4(HEXB):c.1572C>T (p.Asp524=)	single nucleotide variant	Sandhoff disease [RCV000919377]	Chr5:74720706 [GRCh38] Chr5:74016531 [GRCh37] Chr5:5q13.3	likely benign
NC_000005.10:g.74685135C>T	single nucleotide variant	not provided [RCV000841649]	Chr5:73980960 [GRCh37] Chr5:5q13.3	benign
NM_000521.4(HEXB):c.445+236T>C	single nucleotide variant	not provided [RCV000841650]	Chr5:74689709 [GRCh38] Chr5:73985534 [GRCh37] Chr5:5q13.3	benign
NM_000521.4(HEXB):c.1614-4A>G	single nucleotide variant	Sandhoff disease [RCV000937001]	Chr5:74721114 [GRCh38] Chr5:74016939 [GRCh37] Chr5:5q13.3	likely benign
NM_000521.4(HEXB):c.410G>A (p.Cys137Tyr)	single nucleotide variant	Sandhoff disease [RCV000796892]	Chr5:74689438 [GRCh38] Chr5:73985263 [GRCh37] Chr5:5q13.3	uncertain significance
NM_000521.4(HEXB):c.839T>G (p.Leu280Ter)	single nucleotide variant	Sandhoff disease [RCV000823115]	Chr5:74713573 [GRCh38] Chr5:74009398 [GRCh37] Chr5:5q13.3	pathogenic
NM_000521.4(HEXB):c.1010dup (p.Lys338fs)	duplication	Sandhoff disease [RCV000823847]	Chr5:74715613..74715614 [GRCh38] Chr5:74011438..74011439 [GRCh37] Chr5:5q13.3	pathogenic
NM_001292004.2(HEXB):c.-376-4450A>T	single nucleotide variant	not provided [RCV000840394]	Chr5:74684878 [GRCh38] Chr5:73980703 [GRCh37] Chr5:5q13.3	benign
NM_000521.4(HEXB):c.171_176delinsCCCCC (p.Trp57fs)	indel	Sandhoff disease [RCV000815579]	Chr5:74685431..74685436 [GRCh38] Chr5:73981256..73981261 [GRCh37] Chr5:5q13.3	pathogenic
NM_000521.4(HEXB):c.1448G>C (p.Gly483Ala)	single nucleotide variant	Sandhoff disease [RCV000790389]	Chr5:74720458 [GRCh38] Chr5:74016283 [GRCh37] Chr5:5q13.3	uncertain significance
GRCh37/hg19 5q13.3(chr5:73978700-73993202)x1	copy number loss	not provided [RCV000846928]	Chr5:73978700..73993202 [GRCh37] Chr5:5q13.3	pathogenic
Single allele	deletion	Neurodevelopmental disorder [RCV000787436]	Chr5:14685137..149511942 [GRCh37] Chr5:5p15.2-q32	uncertain significance
NM_000521.4(HEXB):c.1083-14A>C	single nucleotide variant	Sandhoff disease [RCV001151447]	Chr5:74716573 [GRCh38] Chr5:74012398 [GRCh37] Chr5:5q13.3	uncertain significance
GRCh37/hg19 5q13.3(chr5:73978700-73993202)x1	copy number loss	not provided [RCV000846158]	Chr5:73978700..73993202 [GRCh37] Chr5:5q13.3	pathogenic
NM_000521.4(HEXB):c.383T>G (p.Leu128Arg)	single nucleotide variant	Sandhoff disease [RCV000872361]	Chr5:74689411 [GRCh38] Chr5:73985236 [GRCh37] Chr5:5q13.3	likely benign
NM_001292004.2(HEXB):c.-376-4449T>G	single nucleotide variant	not provided [RCV000840396]	Chr5:74684879 [GRCh38] Chr5:73980704 [GRCh37] Chr5:5q13.3	benign
NM_001292004.2(HEXB):c.-376-4354G>C	single nucleotide variant	not provided [RCV000840397]	Chr5:74684974 [GRCh38] Chr5:73980799 [GRCh37] Chr5:5q13.3	benign
NM_000521.4(HEXB):c.299+278G>A	single nucleotide variant	not provided [RCV000840399]	Chr5:74685837 [GRCh38] Chr5:73981662 [GRCh37] Chr5:5q13.3	benign
NC_000005.10:g.(?_74685251)_(74697116_?)del	deletion	Sandhoff disease [RCV000798158]	Chr5:74685251..74697116 [GRCh38] Chr5:73981076..73992941 [GRCh37] Chr5:5q13.3	pathogenic
NM_000521.4(HEXB):c.672T>C (p.Asp224=)	single nucleotide variant	Sandhoff disease [RCV001274212]\|not provided [RCV000914404]	Chr5:74705221 [GRCh38] Chr5:74001046 [GRCh37] Chr5:5q13.3	likely benign\|uncertain significance
NM_000521.4(HEXB):c.1417+229T>C	single nucleotide variant	not provided [RCV000829704]	Chr5:74719200 [GRCh38] Chr5:74015025 [GRCh37] Chr5:5q13.3	benign
NM_000521.4(HEXB):c.1625C>T (p.Ala542Val)	single nucleotide variant	Sandhoff disease [RCV000801007]	Chr5:74721129 [GRCh38] Chr5:74016954 [GRCh37] Chr5:5q13.3	uncertain significance
NM_000521.4(HEXB):c.1345del (p.Trp449fs)	deletion	Sandhoff disease [RCV001194423]	Chr5:74718898 [GRCh38] Chr5:74014723 [GRCh37] Chr5:5q13.3	likely pathogenic
NM_000521.4(HEXB):c.1667T>C (p.Met556Thr)	single nucleotide variant	Sandhoff disease [RCV001154476]\|not provided [RCV000998400]	Chr5:74721171 [GRCh38] Chr5:74016996 [GRCh37] Chr5:5q13.3	uncertain significance
GRCh37/hg19 5q13.3(chr5:73974274-74011878)x1	copy number loss	not provided [RCV000847623]	Chr5:73974274..74011878 [GRCh37] Chr5:5q13.3	pathogenic
GRCh37/hg19 5q13.2-15(chr5:72790061-97478870)x3	copy number gain	not provided [RCV001005683]	Chr5:72790061..97478870 [GRCh37] Chr5:5q13.2-15	pathogenic
NM_000521.4(HEXB):c.1589C>G (p.Thr530Arg)	single nucleotide variant	Sandhoff disease [RCV001175296]	Chr5:74720723 [GRCh38] Chr5:74016548 [GRCh37] Chr5:5q13.3	not provided
NM_000521.4(HEXB):c.283del (p.Glu95fs)	deletion	Sandhoff disease [RCV001240185]	Chr5:74685542 [GRCh38] Chr5:73981367 [GRCh37] Chr5:5q13.3	pathogenic
NM_000521.4(HEXB):c.59C>A (p.Ala20Glu)	single nucleotide variant	Sandhoff disease [RCV001242017]	Chr5:74685319 [GRCh38] Chr5:73981144 [GRCh37] Chr5:5q13.3	uncertain significance
NM_000521.4(HEXB):c.878G>C (p.Gly293Ala)	single nucleotide variant	Sandhoff disease [RCV001239378]	Chr5:74713612 [GRCh38] Chr5:74009437 [GRCh37] Chr5:5q13.3	uncertain significance
NC_000005.10:g.74713507del	deletion	Sandhoff disease [RCV001239339]	Chr5:74713505 [GRCh38] Chr5:74009330 [GRCh37] Chr5:5q13.3	pathogenic
GRCh37/hg19 5q13.3(chr5:73978700-73993202)x1	copy number loss	not provided [RCV000847565]	Chr5:73978700..73993202 [GRCh37] Chr5:5q13.3	pathogenic
NM_000521.4(HEXB):c.761T>C (p.Leu254Ser)	single nucleotide variant	Sandhoff disease [RCV000993713]	Chr5:74705310 [GRCh38] Chr5:74001135 [GRCh37] Chr5:5q13.3	likely pathogenic
NM_000521.4(HEXB):c.331T>C (p.Trp111Arg)	single nucleotide variant	Sandhoff disease [RCV001246112]	Chr5:74689359 [GRCh38] Chr5:73985184 [GRCh37] Chr5:5q13.3	uncertain significance
NM_000521.4(HEXB):c.156G>A (p.Pro52=)	single nucleotide variant	Sandhoff disease [RCV001155218]	Chr5:74685416 [GRCh38] Chr5:73981241 [GRCh37] Chr5:5q13.3	uncertain significance
NM_000521.4(HEXB):c.1082+13C>T	single nucleotide variant	Sandhoff disease [RCV001151446]	Chr5:74715703 [GRCh38] Chr5:74011528 [GRCh37] Chr5:5q13.3	uncertain significance
NM_000521.4(HEXB):c.276C>T (p.Thr92=)	single nucleotide variant	Sandhoff disease [RCV000873106]	Chr5:74685536 [GRCh38] Chr5:73981361 [GRCh37] Chr5:5q13.3	benign
NM_000521.4(HEXB):c.1149A>G (p.Leu383=)	single nucleotide variant	Sandhoff disease [RCV000979818]	Chr5:74716653 [GRCh38] Chr5:74012478 [GRCh37] Chr5:5q13.3	likely benign
NM_000521.4(HEXB):c.1614-10T>C	single nucleotide variant	not provided [RCV000932760]	Chr5:74721108 [GRCh38] Chr5:74016933 [GRCh37] Chr5:5q13.3	likely benign
NM_000521.4(HEXB):c.771+9A>G	single nucleotide variant	not provided [RCV000939965]	Chr5:74705329 [GRCh38] Chr5:74001154 [GRCh37] Chr5:5q13.3	likely benign
NM_000521.4(HEXB):c.1374A>G (p.Gln458=)	single nucleotide variant	Sandhoff disease [RCV000933373]	Chr5:74718928 [GRCh38] Chr5:74014753 [GRCh37] Chr5:5q13.3	likely benign
NM_000521.4(HEXB):c.1040A>T (p.Gln347Leu)	single nucleotide variant	Sandhoff disease [RCV001221870]	Chr5:74715648 [GRCh38] Chr5:74011473 [GRCh37] Chr5:5q13.3	uncertain significance
NM_000521.4(HEXB):c.1474_1477delinsAA (p.Tyr492fs)	indel	Sandhoff disease [RCV001244478]	Chr5:74720484..74720487 [GRCh38] Chr5:74016309..74016312 [GRCh37] Chr5:5q13.3	pathogenic
NM_000521.4(HEXB):c.1294dup (p.Glu432fs)	duplication	Sandhoff disease [RCV001056488]	Chr5:74718846..74718847 [GRCh38] Chr5:74014671..74014672 [GRCh37] Chr5:5q13.3	pathogenic
NM_000521.4(HEXB):c.571_574del (p.Glu191fs)	deletion	Sandhoff disease [RCV001224279]	Chr5:74697005..74697008 [GRCh38] Chr5:73992830..73992833 [GRCh37] Chr5:5q13.3	pathogenic
NM_000521.4(HEXB):c.94C>T (p.Gln32Ter)	single nucleotide variant	Sandhoff disease [RCV000985063]	Chr5:74685354 [GRCh38] Chr5:73981179 [GRCh37] Chr5:5q13.3	pathogenic
GRCh37/hg19 5q13.2-13.3(chr5:72829994-74076751)x3	copy number gain	not provided [RCV001005684]	Chr5:72829994..74076751 [GRCh37] Chr5:5q13.2-13.3	uncertain significance
NM_000521.4(HEXB):c.652_654ATT[1] (p.Ile219del)	microsatellite	Sandhoff disease [RCV001090117]	Chr5:74697089..74697091 [GRCh38] Chr5:73992914..73992916 [GRCh37] Chr5:5q13.3	pathogenic\|uncertain significance
NM_001292004.2(HEXB):c.-376-4129G>A	single nucleotide variant	Sandhoff disease [RCV001155217]	Chr5:74685199 [GRCh38] Chr5:73981024 [GRCh37] Chr5:5q13.3	uncertain significance
NM_000521.4(HEXB):c.669G>A (p.Leu223=)	single nucleotide variant	Sandhoff disease [RCV001156876]	Chr5:74697106 [GRCh38] Chr5:73992931 [GRCh37] Chr5:5q13.3	uncertain significance
NM_000521.4(HEXB):c.1445T>C (p.Ile482Thr)	single nucleotide variant	Sandhoff disease [RCV001245816]	Chr5:74720455 [GRCh38] Chr5:74016280 [GRCh37] Chr5:5q13.3	uncertain significance
NM_000521.4(HEXB):c.1538T>C (p.Leu513Pro)	single nucleotide variant	Sandhoff disease [RCV001193758]	Chr5:74720672 [GRCh38] Chr5:74016497 [GRCh37] Chr5:5q13.3	pathogenic
NM_001292004.2(HEXB):c.-376-4130G>A	single nucleotide variant	Sandhoff disease [RCV001155216]	Chr5:74685198 [GRCh38] Chr5:73981023 [GRCh37] Chr5:5q13.3	uncertain significance
NM_000521.4(HEXB):c.451_452dup (p.Leu151fs)	duplication	Sandhoff disease [RCV001043436]	Chr5:74693642..74693643 [GRCh38] Chr5:73989467..73989468 [GRCh37] Chr5:5q13.3	pathogenic
NM_000521.4(HEXB):c.1021_1023delinsTCAAA (p.Glu342fs)	indel	Sandhoff disease [RCV001053207]	Chr5:74715629..74715631 [GRCh38] Chr5:74011454..74011456 [GRCh37] Chr5:5q13.3	pathogenic
NM_000521.4(HEXB):c.1642_1657del (p.Ala548fs)	deletion	Sandhoff disease [RCV001206614]	Chr5:74721146..74721161 [GRCh38] Chr5:74016971..74016986 [GRCh37] Chr5:5q13.3	likely pathogenic
NM_000521.4(HEXB):c.559-1G>T	single nucleotide variant	Sandhoff disease [RCV001234727]	Chr5:74696995 [GRCh38] Chr5:73992820 [GRCh37] Chr5:5q13.3	likely pathogenic
NM_000521.4(HEXB):c.558+1G>C	single nucleotide variant	Sandhoff disease [RCV001058264]	Chr5:74696740 [GRCh38] Chr5:73992565 [GRCh37] Chr5:5q13.3	likely pathogenic
NM_000521.4(HEXB):c.1310_1311del (p.Thr437fs)	microsatellite	Sandhoff disease [RCV001233820]	Chr5:74718862..74718863 [GRCh38] Chr5:74014687..74014688 [GRCh37] Chr5:5q13.3	pathogenic
NM_000521.4(HEXB):c.1265A>T (p.Glu422Val)	single nucleotide variant	Sandhoff disease [RCV001218156]\|not specified [RCV001194422]	Chr5:74718819 [GRCh38] Chr5:74014644 [GRCh37] Chr5:5q13.3	uncertain significance
NM_000521.4(HEXB):c.249C>T (p.Pro83=)	single nucleotide variant	not provided [RCV001171848]	Chr5:74685509 [GRCh38] Chr5:73981334 [GRCh37] Chr5:5q13.3	likely benign
NM_000521.4(HEXB):c.563C>T (p.Thr188Ile)	single nucleotide variant	Sandhoff disease [RCV001062976]	Chr5:74697000 [GRCh38] Chr5:73992825 [GRCh37] Chr5:5q13.3	uncertain significance
NM_000521.4(HEXB):c.1417+11C>T	single nucleotide variant	Sandhoff disease [RCV001151448]	Chr5:74718982 [GRCh38] Chr5:74014807 [GRCh37] Chr5:5q13.3	uncertain significance
NM_000521.4(HEXB):c.1513C>T (p.Arg505Trp)	single nucleotide variant	not specified [RCV001251393]	Chr5:74720647 [GRCh38] Chr5:74016472 [GRCh37] Chr5:5q13.3	uncertain significance
NM_000521.4(HEXB):c.1242+3G>T	single nucleotide variant	Sandhoff disease [RCV001264795]	Chr5:74718366 [GRCh38] Chr5:74014191 [GRCh37] Chr5:5q13.3	likely pathogenic
NM_000521.4(HEXB):c.1057G>C (p.Gly353Arg)	single nucleotide variant	Inborn genetic diseases [RCV001265747]	Chr5:74715665 [GRCh38] Chr5:74011490 [GRCh37] Chr5:5q13.3	likely pathogenic
NM_000521.4(HEXB):c.1069G>T (p.Glu357Ter)	single nucleotide variant	Sandhoff disease [RCV001264377]	Chr5:74715677 [GRCh38] Chr5:74011502 [GRCh37] Chr5:5q13.3	likely pathogenic
NM_000521.4(HEXB):c.1082G>A (p.Trp361Ter)	single nucleotide variant	Sandhoff disease [RCV001264378]	Chr5:74715690 [GRCh38] Chr5:74011515 [GRCh37] Chr5:5q13.3	likely pathogenic
NM_000521.4(HEXB):c.1287T>G (p.Tyr429Ter)	single nucleotide variant	Sandhoff disease [RCV001264380]	Chr5:74718841 [GRCh38] Chr5:74014666 [GRCh37] Chr5:5q13.3	likely pathogenic
NM_000521.4(HEXB):c.332G>A (p.Trp111Ter)	single nucleotide variant	Sandhoff disease [RCV001264046]	Chr5:74689360 [GRCh38] Chr5:73985185 [GRCh37] Chr5:5q13.3	likely pathogenic
NM_000521.4(HEXB):c.529C>T (p.Gln177Ter)	single nucleotide variant	Sandhoff disease [RCV001264047]	Chr5:74696710 [GRCh38] Chr5:73992535 [GRCh37] Chr5:5q13.3	likely pathogenic
NM_000521.4(HEXB):c.639T>G (p.Tyr213Ter)	single nucleotide variant	Sandhoff disease [RCV001264048]	Chr5:74697076 [GRCh38] Chr5:73992901 [GRCh37] Chr5:5q13.3	likely pathogenic
NM_000521.4(HEXB):c.1287T>A (p.Tyr429Ter)	single nucleotide variant	Sandhoff disease [RCV001264379]	Chr5:74718841 [GRCh38] Chr5:74014666 [GRCh37] Chr5:5q13.3	likely pathogenic
NM_000521.4(HEXB):c.1583G>T (p.Arg528Ile)	single nucleotide variant	not specified [RCV001264467]	Chr5:74720717 [GRCh38] Chr5:74016542 [GRCh37] Chr5:5q13.3	uncertain significance
NM_000521.4(HEXB):c.739C>T (p.Gln247Ter)	single nucleotide variant	Sandhoff disease [RCV001264374]	Chr5:74705288 [GRCh38] Chr5:74001113 [GRCh37] Chr5:5q13.3	likely pathogenic
NM_000521.4(HEXB):c.1024G>T (p.Glu342Ter)	single nucleotide variant	Sandhoff disease [RCV001264375]	Chr5:74715632 [GRCh38] Chr5:74011457 [GRCh37] Chr5:5q13.3	likely pathogenic
NM_000521.4(HEXB):c.1039C>T (p.Gln347Ter)	single nucleotide variant	Sandhoff disease [RCV001264376]	Chr5:74715647 [GRCh38] Chr5:74011472 [GRCh37] Chr5:5q13.3	likely pathogenic
NM_000521.4:c.1_669del	deletion	Intellectual disability [RCV001263359]		likely pathogenic
NM_000521.4(HEXB):c.703C>T (p.His235Tyr)	single nucleotide variant	Sandhoff disease [RCV001269215]	Chr5:74705252 [GRCh38] Chr5:74001077 [GRCh37] Chr5:5q13.3	likely pathogenic
NM_000521.4(HEXB):c.1670A>G (p.Ter557=)	single nucleotide variant	Sandhoff disease [RCV001279185]	Chr5:74721174 [GRCh38] Chr5:74016999 [GRCh37] Chr5:5q13.3	uncertain significance
NM_000521.4(HEXB):c.14G>A (p.Gly5Glu)	single nucleotide variant	Sandhoff disease [RCV001279183]	Chr5:74685274 [GRCh38] Chr5:73981099 [GRCh37] Chr5:5q13.3	uncertain significance

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:4879	AgrOrtholog
COSMIC	HEXB	COSMIC
Ensembl Genes	ENSG00000049860	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein	ENSP00000261416	ENTREZGENE, UniProtKB/Swiss-Prot
	ENSP00000423713	UniProtKB/TrEMBL
	ENSP00000424550	UniProtKB/TrEMBL
	ENSP00000424939	UniProtKB/TrEMBL
	ENSP00000426285	ENTREZGENE, UniProtKB/TrEMBL
	ENSP00000426384	UniProtKB/TrEMBL
Ensembl Transcript	ENST00000261416	ENTREZGENE, UniProtKB/Swiss-Prot
	ENST00000503312	UniProtKB/TrEMBL
	ENST00000505859	UniProtKB/TrEMBL
	ENST00000509579	UniProtKB/TrEMBL
	ENST00000511181	ENTREZGENE, UniProtKB/TrEMBL
	ENST00000513336	UniProtKB/TrEMBL
Gene3D-CATH	3.30.379.10	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000049860	GTEx
HGNC ID	HGNC:4879	ENTREZGENE
Human Proteome Map	HEXB	Human Proteome Map
InterPro	Beta_hexosaminidase_sua/sub	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Glyco_hydro_20_cat	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Glycoside_hydrolase_SF	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Hex-like_dom2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	HEX_eukaryotic_N	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:3074	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene	3074	ENTREZGENE
OMIM	268800	OMIM
	606873	OMIM
Pfam	Glyco_hydro_20	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Glycohydro_20b2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA29257	PharmGKB
PIRSF	B-hxosamndse_ab_euk	UniProtKB/TrEMBL, UniProtKB/Swiss-Prot
PRINTS	GLHYDRLASE20	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	SSF51445	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SSF55545	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	A0A024RAJ6_HUMAN	UniProtKB/TrEMBL
	D6REQ8_HUMAN	UniProtKB/TrEMBL
	H0Y9B6_HUMAN	UniProtKB/TrEMBL
	H0Y9M3_HUMAN	UniProtKB/TrEMBL
	H0YA83_HUMAN	UniProtKB/TrEMBL
	HEXB_HUMAN	UniProtKB/Swiss-Prot, ENTREZGENE
	Q5URX0	ENTREZGENE, UniProtKB/TrEMBL

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-01-26	HEXB	hexosaminidase subunit beta		hexosaminidase B (beta polypeptide)	Symbol and/or name change	5135510	APPROVED

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

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

Imported Annotations - KEGG (archival)