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Gene: B3GNT7 (UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7) Homo sapiens

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Symbol:

B3GNT7

Name:

UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7

RGD ID:

1321569

HGNC Page

HGNC:18811

Description:

Enables acetylglucosaminyltransferase activity. Involved in keratan sulfate biosynthetic process. Predicted to be located in Golgi apparatus and membrane. Predicted to be active in Golgi membrane.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

beta 1,3-N-acetylglucosaminyltransferase 7; beta-1,3-Gn-T7; beta-1,3-N-acetylglucosaminyltransferase 7; beta3Gn-T7; beta3GnT7; BGnT-7

RGD Orthologs

Alliance Orthologs

More Info

more info ...

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	2	231,395,710 - 231,401,164 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	2	231,395,671 - 231,408,799 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	2	232,260,421 - 232,265,875 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	2	231,968,579 - 231,971,928 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	2	232,085,839 - 232,089,189	NCBI
Celera	2	226,036,697 - 226,042,236 (+)	NCBI		Celera
Cytogenetic Map	2	q37.1	NCBI
HuRef	2	224,101,622 - 224,107,116 (+)	NCBI		HuRef
CHM1_1	2	232,266,140 - 232,271,695 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	2	231,880,160 - 231,885,616 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

Joubert syndrome 22 (IAGP)

Perlman syndrome (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dichloroethane (ISO)

17alpha-ethynylestradiol (ISO)

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

4,4'-sulfonyldiphenol (ISO)

4-hydroxyphenyl retinamide (ISO)

6-propyl-2-thiouracil (ISO)

acetamide (ISO)

acrylamide (EXP)

actinomycin D (EXP)

aflatoxin B1 (EXP)

all-trans-retinoic acid (EXP)

aristolochic acid A (EXP)

benzo[a]pyrene (EXP,ISO)

bisphenol A (EXP,ISO)

camptothecin (EXP)

cefaloridine (ISO)

CGP 52608 (EXP)

cisplatin (EXP)

copper atom (EXP)

copper(0) (EXP)

dextran sulfate (ISO)

Dibutyl phosphate (EXP)

dibutyl phthalate (ISO)

dorsomorphin (EXP)

doxorubicin (EXP)

entinostat (EXP)

Evodiamine (ISO)

flusilazole (ISO)

formaldehyde (EXP)

gentamycin (ISO)

glycidol (ISO)

hexaconazole (ISO)

niclosamide (EXP)

nitrofen (ISO)

Nutlin-3 (EXP)

panobinostat (EXP)

paracetamol (ISO)

poly(I:C) (EXP)

SB 431542 (EXP)

sodium arsenite (EXP)

thioacetamide (ISO)

titanium dioxide (ISO)

triadimefon (ISO)

valproic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

carbohydrate derivative biosynthetic process (IEA)

keratan sulfate proteoglycan biosynthetic process (IDA,IEA,TAS)

O-glycan processing (TAS)

poly-N-acetyllactosamine biosynthetic process (IBA)

protein glycosylation (IEA)

protein O-linked glycosylation (IBA)

Cellular Component

Golgi apparatus (IEA)

Golgi membrane (IBA,IEA,TAS)

membrane (IEA)

Molecular Function

acetylglucosaminyltransferase activity (IDA)

endonuclease activity (IEA)

glycosyltransferase activity (IEA)

hexosyltransferase activity (IEA)

N-acetyl-beta-D-glucosaminide beta-(1,3)-galactosyltransferase activity (TAS)

N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity (TAS)

nucleotidyltransferase activity (IEA)

protein binding (IPI)

UDP-glycosyltransferase activity (IBA)

Molecular Pathway Annotations Click to see Annotation Detail View

keratan sulfate biosynthetic pathway (IEA)

References

References - curated

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	KEGG Annotation Import Pipeline	Pipeline to import KEGG annotations from KEGG into RGD
3.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:12061784	PMID:14706853	PMID:15815621	PMID:17690104	PMID:21873635	PMID:23583979	PMID:24418929	PMID:30021884	PMID:32296183	PMID:33961781	PMID:34864058	PMID:37740763

Genomics

Comparative Map Data

B3GNT7
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	2	231,395,710 - 231,401,164 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	2	231,395,671 - 231,408,799 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	2	232,260,421 - 232,265,875 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	2	231,968,579 - 231,971,928 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	2	232,085,839 - 232,089,189	NCBI
Celera	2	226,036,697 - 226,042,236 (+)	NCBI		Celera
Cytogenetic Map	2	q37.1	NCBI
HuRef	2	224,101,622 - 224,107,116 (+)	NCBI		HuRef
CHM1_1	2	232,266,140 - 232,271,695 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	2	231,880,160 - 231,885,616 (+)	NCBI		T2T-CHM13v2.0

B3gnt7
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	1	86,230,943 - 86,235,027 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	1	86,230,554 - 86,235,027 (+)	Ensembl		GRCm39 Ensembl
GRCm38	1	86,303,221 - 86,307,305 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	1	86,302,832 - 86,307,305 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	1	88,199,796 - 88,203,880 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	1	88,134,639 - 88,138,476 (+)	NCBI		MGSCv36	mm8
Celera	1	89,271,394 - 89,275,478 (+)	NCBI		Celera
Cytogenetic Map	1	C5	NCBI
cM Map	1	43.94	NCBI

B3gnt7
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	9	94,404,197 - 94,408,148 (+)	NCBI		GRCr8
mRatBN7.2	9	86,956,220 - 86,960,171 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	9	86,956,220 - 86,960,170 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	9	95,373,838 - 95,377,789 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	9	100,502,605 - 100,506,556 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	9	98,884,564 - 98,888,515 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	9	93,326,283 - 93,330,234 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	9	93,326,283 - 93,330,233 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	9	93,055,878 - 93,059,829 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	9	85,069,241 - 85,073,192	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	9	85,252,659 - 85,256,610	NCBI
Cytogenetic Map	9	q35	NCBI

B3gnt7
(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_004955453	4,179,547 - 4,180,737 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955453	4,178,544 - 4,180,738 (-)	NCBI	ChiLan1.0	ChiLan1.0

B3GNT7
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	13	134,015,691 - 134,021,268 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	2B	134,030,664 - 134,036,234 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	2B	118,644,899 - 118,650,463 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3

B3GNT7
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	25	43,287,937 - 43,293,416 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
Dog10K_Boxer_Tasha	25	43,847,137 - 43,852,530 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	25	43,545,318 - 43,550,903 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	25	43,545,301 - 43,550,890 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	25	43,472,896 - 43,478,886 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	25	43,316,106 - 43,321,691 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	25	43,471,442 - 43,477,003 (+)	NCBI		UU_Cfam_GSD_1.0

B3gnt7
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024405303	185,441,557 - 185,443,920 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936525	5,496,465 - 5,505,278 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936525	5,495,815 - 5,508,400 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

B3GNT7
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	15	132,127,396 - 132,131,916 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	15	132,127,386 - 132,131,912 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	15	145,843,455 - 145,846,480 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

B3GNT7
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	10	117,429,516 - 117,435,910 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
Vero_WHO_p1.0	NW_023666040	82,013,921 - 82,018,409 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

B3gnt7
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624843	4,603,181 - 4,605,744 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624843	4,603,014 - 4,606,757 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in B3GNT7
22 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	copy number gain	See cases [RCV000051119]	Chr2:194898783..236473913 [GRCh38] Chr2:195763507..237382556 [GRCh37] Chr2:195471752..237047295 [NCBI36] Chr2:2q32.3-37.3	pathogenic
GRCh38/hg38 2q36.3-37.2(chr2:227343278-235339168)x1	copy number loss	See cases [RCV000052638]	Chr2:227343278..235339168 [GRCh38] Chr2:228207994..236247812 [GRCh37] Chr2:227916238..235912551 [NCBI36] Chr2:2q36.3-37.2	pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:231375505-242065208)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052639]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052639]\|See cases [RCV000052639]	Chr2:231375505..242065208 [GRCh38] Chr2:232240216..243007359 [GRCh37] Chr2:231948460..242656032 [NCBI36] Chr2:2q37.1-37.3	pathogenic
GRCh38/hg38 2q36.3-37.3(chr2:226978129-236886599)x1	copy number loss	See cases [RCV000052637]	Chr2:226978129..236886599 [GRCh38] Chr2:227842845..237795242 [GRCh37] Chr2:227551089..237459981 [NCBI36] Chr2:2q36.3-37.3	pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	copy number gain	See cases [RCV000052958]	Chr2:188818195..242065208 [GRCh38] Chr2:189682921..243007359 [GRCh37] Chr2:189391166..242656032 [NCBI36] Chr2:2q32.2-37.3	pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	copy number gain	See cases [RCV000052959]	Chr2:190310736..241892770 [GRCh38] Chr2:191175462..242834921 [GRCh37] Chr2:190883707..242483594 [NCBI36] Chr2:2q32.2-37.3	pathogenic
GRCh38/hg38 2q32.3-37.3(chr2:193122313-241074980)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]\|See cases [RCV000052960]	Chr2:193122313..241074980 [GRCh38] Chr2:193987039..242014395 [GRCh37] Chr2:193695284..241663068 [NCBI36] Chr2:2q32.3-37.3	pathogenic
GRCh38/hg38 2q36.1-37.3(chr2:223992431-242126245)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052972]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052972]\|See cases [RCV000052972]	Chr2:223992431..242126245 [GRCh38] Chr2:224857148..243059659 [GRCh37] Chr2:224565392..242717069 [NCBI36] Chr2:2q36.1-37.3	pathogenic
GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3	copy number gain	See cases [RCV000052973]	Chr2:227803148..242086301 [GRCh38] Chr2:228667864..243028452 [GRCh37] Chr2:228376108..242677125 [NCBI36] Chr2:2q36.3-37.3	pathogenic
GRCh38/hg38 2q36.3-37.3(chr2:228723579-241404867)x3	copy number gain	See cases [RCV000134169]	Chr2:228723579..241404867 [GRCh38] Chr2:229588295..242344282 [GRCh37] Chr2:229296539..241992955 [NCBI36] Chr2:2q36.3-37.3	pathogenic
GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	copy number gain	See cases [RCV000135934]	Chr2:210579676..242126245 [GRCh38] Chr2:211444400..243059659 [GRCh37] Chr2:211152645..242717069 [NCBI36] Chr2:2q34-37.3	pathogenic
GRCh38/hg38 2q36.3-37.2(chr2:228014149-234976424)x3	copy number gain	See cases [RCV000136967]	Chr2:228014149..234976424 [GRCh38] Chr2:228878865..235885068 [GRCh37] Chr2:228587109..235549807 [NCBI36] Chr2:2q36.3-37.2	pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	copy number gain	See cases [RCV000142307]	Chr2:189436149..241841232 [GRCh38] Chr2:190300875..242783384 [GRCh37] Chr2:190009120..242432057 [NCBI36] Chr2:2q32.2-37.3	pathogenic
GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	copy number gain	See cases [RCV000143216]	Chr2:218101759..242126245 [GRCh38] Chr2:218966482..243059659 [GRCh37] Chr2:218674727..242717069 [NCBI36] Chr2:2q35-37.3	pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3	copy number gain	not provided [RCV000752802]	Chr2:14238..243048760 [GRCh37] Chr2:2p25.3-q37.3	pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3	copy number gain	not provided [RCV000752804]	Chr2:15672..243101834 [GRCh37] Chr2:2p25.3-q37.3	pathogenic
GRCh37/hg19 2q37.1(chr2:232215111-235593473)x1	copy number loss	See cases [RCV000446723]	Chr2:232215111..235593473 [GRCh37] Chr2:2q37.1	likely pathogenic
GRCh37/hg19 2q35-37.3(chr2:219966808-237815985)x3	copy number gain	See cases [RCV000448049]	Chr2:219966808..237815985 [GRCh37] Chr2:2q35-37.3	pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	copy number gain	See cases [RCV000512056]	Chr2:12771..242783384 [GRCh37] Chr2:2p25.3-q37.3	pathogenic
GRCh37/hg19 2q36.1-37.3(chr2:222077224-239394441)x3	copy number gain	See cases [RCV000511816]	Chr2:222077224..239394441 [GRCh37] Chr2:2q36.1-37.3	pathogenic
GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3	copy number gain	See cases [RCV000512009]	Chr2:213518431..242783384 [GRCh37] Chr2:2q34-37.3	pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	copy number gain	See cases [RCV000511212]	Chr2:12771..242783384 [GRCh37] Chr2:2p25.3-q37.3	pathogenic
NM_145236.3(B3GNT7):c.868G>A (p.Gly290Ser)	single nucleotide variant	not specified [RCV004298690]	Chr2:231398587 [GRCh38] Chr2:232263298 [GRCh37] Chr2:2q37.1	likely benign
NM_145236.3(B3GNT7):c.670A>G (p.Lys224Glu)	single nucleotide variant	not specified [RCV004319979]	Chr2:231398389 [GRCh38] Chr2:232263100 [GRCh37] Chr2:2q37.1	uncertain significance
GRCh37/hg19 2q35-37.3(chr2:219225872-242016876)x3	copy number gain	not provided [RCV000682170]	Chr2:219225872..242016876 [GRCh37] Chr2:2q35-37.3	pathogenic
GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3	copy number gain	See cases [RCV000790568]	Chr2:210779657..239879183 [GRCh37] Chr2:2q34-37.3	pathogenic
NM_145236.3(B3GNT7):c.494G>A (p.Gly165Asp)	single nucleotide variant	not specified [RCV004302494]	Chr2:231398213 [GRCh38] Chr2:232262924 [GRCh37] Chr2:2q37.1	uncertain significance
GRCh37/hg19 2q36.3-37.3(chr2:230814690-242783384)x3	copy number gain	not provided [RCV001007519]	Chr2:230814690..242783384 [GRCh37] Chr2:2q36.3-37.3	pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	copy number gain	Mosaic trisomy 2 [RCV002280628]	Chr2:1..243199373 [GRCh37] Chr2:2p25.3-q37.3	pathogenic
GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	copy number gain	See cases [RCV001263052]	Chr2:178397959..243007457 [GRCh37] Chr2:2q31.2-37.3	pathogenic
GRCh37/hg19 2q35-37.3(chr2:219606537-239217703)	copy number loss	not specified [RCV002053285]	Chr2:219606537..239217703 [GRCh37] Chr2:2q35-37.3	pathogenic
GRCh37/hg19 2q36.3-37.1(chr2:228807574-235475892)	copy number loss	not specified [RCV002053291]	Chr2:228807574..235475892 [GRCh37] Chr2:2q36.3-37.1	pathogenic
GRCh37/hg19 2q37.1(chr2:232215111-235593473)	copy number loss	not specified [RCV002053294]	Chr2:232215111..235593473 [GRCh37] Chr2:2q37.1	likely pathogenic
NC_000002.11:g.(?_231033840)_(234978657_?)dup	duplication	Joubert syndrome 22 [RCV001877690]\|Perlman syndrome [RCV001877689]	Chr2:231033840..234978657 [GRCh37] Chr2:2q37.1	uncertain significance
NM_145236.3(B3GNT7):c.660C>G (p.Ile220Met)	single nucleotide variant	not specified [RCV004312503]	Chr2:231398379 [GRCh38] Chr2:232263090 [GRCh37] Chr2:2q37.1	uncertain significance
NM_145236.3(B3GNT7):c.1135C>T (p.Pro379Ser)	single nucleotide variant	not specified [RCV004239448]	Chr2:231398854 [GRCh38] Chr2:232263565 [GRCh37] Chr2:2q37.1	uncertain significance
NM_145236.3(B3GNT7):c.352C>T (p.Arg118Cys)	single nucleotide variant	not specified [RCV004164293]	Chr2:231398071 [GRCh38] Chr2:232262782 [GRCh37] Chr2:2q37.1	uncertain significance
NM_145236.3(B3GNT7):c.628G>A (p.Asp210Asn)	single nucleotide variant	not specified [RCV004218582]	Chr2:231398347 [GRCh38] Chr2:232263058 [GRCh37] Chr2:2q37.1	uncertain significance
NM_145236.3(B3GNT7):c.451G>A (p.Glu151Lys)	single nucleotide variant	not specified [RCV004158775]	Chr2:231398170 [GRCh38] Chr2:232262881 [GRCh37] Chr2:2q37.1	uncertain significance
NM_145236.3(B3GNT7):c.29G>A (p.Arg10Gln)	single nucleotide variant	not specified [RCV004096329]	Chr2:231397748 [GRCh38] Chr2:232262459 [GRCh37] Chr2:2q37.1	uncertain significance
NM_145236.3(B3GNT7):c.1187G>A (p.Arg396His)	single nucleotide variant	not specified [RCV004190475]	Chr2:231398906 [GRCh38] Chr2:232263617 [GRCh37] Chr2:2q37.1	uncertain significance
NM_145236.3(B3GNT7):c.556C>T (p.Arg186Cys)	single nucleotide variant	not specified [RCV004233149]	Chr2:231398275 [GRCh38] Chr2:232262986 [GRCh37] Chr2:2q37.1	uncertain significance
NM_145236.3(B3GNT7):c.164T>C (p.Leu55Pro)	single nucleotide variant	not specified [RCV004135667]	Chr2:231397883 [GRCh38] Chr2:232262594 [GRCh37] Chr2:2q37.1	uncertain significance
NM_145236.3(B3GNT7):c.325C>T (p.Arg109Trp)	single nucleotide variant	not specified [RCV004190888]	Chr2:231398044 [GRCh38] Chr2:232262755 [GRCh37] Chr2:2q37.1	uncertain significance
NM_145236.3(B3GNT7):c.211C>T (p.Pro71Ser)	single nucleotide variant	not specified [RCV004217244]	Chr2:231397930 [GRCh38] Chr2:232262641 [GRCh37] Chr2:2q37.1	uncertain significance
NM_145236.3(B3GNT7):c.379C>G (p.Pro127Ala)	single nucleotide variant	not specified [RCV004351418]	Chr2:231398098 [GRCh38] Chr2:232262809 [GRCh37] Chr2:2q37.1	uncertain significance
NM_145236.3(B3GNT7):c.632C>A (p.Thr211Asn)	single nucleotide variant	not specified [RCV004363374]	Chr2:231398351 [GRCh38] Chr2:232263062 [GRCh37] Chr2:2q37.1	uncertain significance
NM_145236.3(B3GNT7):c.604G>A (p.Asp202Asn)	single nucleotide variant	not specified [RCV004356193]	Chr2:231398323 [GRCh38] Chr2:232263034 [GRCh37] Chr2:2q37.1	uncertain significance
NM_145236.3(B3GNT7):c.647C>G (p.Thr216Ser)	single nucleotide variant	not specified [RCV004336725]	Chr2:231398366 [GRCh38] Chr2:232263077 [GRCh37] Chr2:2q37.1	uncertain significance
GRCh37/hg19 2q36.2-37.3(chr2:225995545-237594511)x3	copy number gain	not provided [RCV003484091]	Chr2:225995545..237594511 [GRCh37] Chr2:2q36.2-37.3	pathogenic
GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3	copy number gain	not provided [RCV003484087]	Chr2:218376403..242783384 [GRCh37] Chr2:2q35-37.3	pathogenic
NM_145236.3(B3GNT7):c.58G>A (p.Val20Met)	single nucleotide variant	not provided [RCV003440226]	Chr2:231397777 [GRCh38] Chr2:232262488 [GRCh37] Chr2:2q37.1	uncertain significance
Single allele	duplication	not provided [RCV003448672]	Chr2:230077026..243049549 [GRCh37] Chr2:2q36.3-37.3	pathogenic
NM_145236.3(B3GNT7):c.901G>A (p.Gly301Ser)	single nucleotide variant	not specified [RCV004423515]	Chr2:231398620 [GRCh38] Chr2:232263331 [GRCh37] Chr2:2q37.1	uncertain significance
NM_145236.3(B3GNT7):c.97C>G (p.Gln33Glu)	single nucleotide variant	not specified [RCV004423516]	Chr2:231397816 [GRCh38] Chr2:232262527 [GRCh37] Chr2:2q37.1	uncertain significance
GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3	copy number gain	See cases [RCV004442836]	Chr2:216815496..242782258 [GRCh37] Chr2:2q35-37.3	pathogenic
NM_145236.3(B3GNT7):c.1050C>T (p.Phe350=)	single nucleotide variant	not provided [RCV004727249]	Chr2:231398769 [GRCh38] Chr2:232263480 [GRCh37] Chr2:2q37.1	likely benign

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	1515
Count of miRNA genes:	773
Interacting mature miRNAs:	896
Transcripts:	ENST00000287590, ENST00000479618
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.

QTLs in Region (GRCh38)

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
597604558	GWAS1661418_H	heart rate QTL GWAS1661418 (human)		3e-65	heart rate	heart rate (CMO:0000002)	2	231400203	231400204	Human
2289332	BW376_H	Body weight QTL 376 (human)	1.87	0.00168	Body fat amount	abdominal	2	213765566	239765566	Human
597617817	GWAS1674677_H	heart rate QTL GWAS1674677 (human)		2e-40	heart rate	heart rate (CMO:0000002)	2	231400203	231400204	Human
597612758	GWAS1669618_H	heart rate QTL GWAS1669618 (human)		7e-37	heart rate	heart rate (CMO:0000002)	2	231400203	231400204	Human
597604818	GWAS1661678_H	heart rate QTL GWAS1661678 (human)		2e-16	heart rate	heart rate (CMO:0000002)	2	231400203	231400204	Human
597617873	GWAS1674733_H	heart rate QTL GWAS1674733 (human)		1e-11	heart rate	heart rate (CMO:0000002)	2	231398416	231398417	Human

Markers in Region

B3GNT7_4416

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	2	232,263,052 - 232,263,830	UniSTS	GRCh37
Build 36	2	231,971,296 - 231,972,074	RGD	NCBI36
Celera	2	226,039,414 - 226,040,192	RGD
HuRef	2	224,104,295 - 224,105,073	UniSTS

G10658

Human Assembly	Chr	Position (strand)	Source	JBrowse
Cytogenetic Map	2	q37.1	UniSTS

Expression

RNA-SEQ Expression

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

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	renal system	reproductive system	respiratory system	sensory system	visual system
1204	2434	2782	2246	4964	1721	2343	5	620	1942	463	2267	7270	6449	50	3730	847	1735	1612	172	1

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_145236	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_005246953	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC017104	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF502430	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK000770	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK126207	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471063	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068276	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000287590 ⟹ ENSP00000287590

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	231,395,710 - 231,401,164 (+)	Ensembl

Ensembl Acc Id:

ENST00000479618

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	231,397,176 - 231,398,257 (+)	Ensembl

Ensembl Acc Id:

ENST00000714191 ⟹ ENSP00000519481

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	231,395,671 - 231,408,799 (+)	Ensembl

Ensembl Acc Id:

ENST00000714192

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	231,401,310 - 231,408,792 (+)	Ensembl

RefSeq Acc Id:

NM_145236 ⟹ NP_660279

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	231,395,710 - 231,401,164 (+)	NCBI
GRCh37	2	232,260,335 - 232,265,875 (+)	RGD
Build 36	2	231,968,579 - 231,971,928 (+)	NCBI Archive
Celera	2	226,036,697 - 226,042,236 (+)	RGD
HuRef	2	224,101,622 - 224,107,116 (+)	ENTREZGENE
CHM1_1	2	232,266,140 - 232,271,695 (+)	NCBI
T2T-CHM13v2.0	2	231,880,160 - 231,885,616 (+)	NCBI

Sequence:

show sequence

CTCCGTCCCCACCCGCCCGCCGTCCCGCCGGCCCGAGCCGTGGCGCCCAGAGCTGCGAGCCGCT
CGCCCCTCCGCCGCTCCGGCCCGGGCCGCCATGTCGCTGTGGAAGAAAACCGTCTACCGGAGTC
TGTGCCTGGCCCTGGCCCTGCTCGTGGCCGTGACGGTGTTCCAACGCAGTCTCACCCCTGGTCA
GTTTCTGCAGGAGCCTCCGCCACCCACCCTGGAGCCACAGAAGGCCCAGAAGCCAAATGGACAG
CTGGTGAACCCCAACAACTTCTGGAAGAACCCGAAAGATGTGGCTGCGCCCACGCCCATGGCCT
CTCAGGGGCCCCAGGCCTGGGACGTGACCACCACTAACTGCTCAGCCAATATCAACTTGACCCA
CCAGCCCTGGTTCCAGGTCCTGGAGCCGCAGTTCCGGCAGTTTCTCTTCTACCGCCACTGCCGC
TACTTCCCCATGCTGCTGAACCACCCGGAGAAGTGCAGGGGCGATGTCTACCTGCTGGTGGTTG
TCAAGTCGGTCATCACGCAGCACGACCGCCGCGAGGCCATCCGCCAGACCTGGGGCCGCGAGCG
GCAGTCCGCGGGTGGGGGCCGAGGCGCCGTGCGCACCCTCTTCCTGCTGGGCACGGCCTCCAAG
CAGGAGGAGCGCACGCACTACCAGCAGCTGCTGGCCTACGAAGACCGCCTCTACGGCGACATCC
TGCAGTGGGGCTTTCTCGACACCTTCTTCAACCTGACCCTCAAGGAGATCCACTTCCTCAAGTG
GCTGGACATCTACTGCCCCCACGTCCCCTTCATTTTCAAAGGCGACGATGACGTCTTCGTCAAC
CCCACCAACCTGCTAGAATTTCTGGCTGACCGGCAGCCACAGGAAAACCTGTTCGTGGGCGATG
TCCTGCAGCACGCTCGGCCCATTCGCAGGAAAGACAACAAATACTACATCCCGGGGGCCCTGTA
CGGCAAGGCCAGCTATCCGCCGTATGCAGGCGGCGGTGGCTTCCTCATGGCCGGCAGCCTGGCC
CGGCGCCTGCACCATGCCTGCGACACCCTGGAGCTCTACCCGATCGACGACGTCTTTCTGGGCA
TGTGCCTGGAGGTGCTGGGCGTGCAGCCCACGGCCCACGAGGGCTTCAAGACTTTCGGCATCTC
CCGGAACCGCAACAGCCGCATGAACAAGGAGCCGTGCTTTTTCCGCGCCATGCTCGTGGTGCAC
AAGCTGCTGCCCCCTGAGCTGCTCGCCATGTGGGGGCTGGTGCACAGCAATCTCACCTGCTCCC
GCAAGCTCCAGGTGCTCTGACCCCAGCCGGGCTACTAGGACAGGCCAGGGCACTTGCTCCTGAG
CCCCCATGGTATTGGGGCTGGAGCCACAGTGCCCAGGCCTAGCCTTTGGTCCCCAAGGGGAGGT
GGAGGGTTGAGGCCTACGTGCCACTGGGTGTGGTGGGGTGCAGGTAGCCAGAAAGGGACCTCCC
TGTGTGGATAATTCTAGGAAACTGAGGCCCAGGAACGGTTGGAGCTGCCCAGTCTGGAGGCCCT
CTCTGAGGAGCGAGGCGCCAGGCCCTGGCAGCCCTCCTGACCTGGGTCCGTTGCTGGCCCCCTC
AGATGTGGTGGGAGGTCCTGGTGACCTCTGGAGGAACGCTGTGCTCAGGTACCTGGGCTAGGCC
TGGCCTGATGGGTCTGTGGCCGCCCCTCGTCTTCACAGGGAAGAGTCTTCTGTGAAATGCCTCA
GTCTCCCCAGAGGCCGGGCGGCCCTGGCAGGAGAAACTCAACCCTGTGCGGGCTCACAGGCACC
CCCCAGTCCACACCCTGGTCTCCTGGGAGAGAGGGCCCAGCCGGCTCTCCGCAGCCCCAGGCCT
GCCTGGAGACGGGCCGCCTCTGCCACAGGGCCTCCACTCCTGGCTGTGTCCTGTAAGGTCTGGA
AGGGCGACCGCTCTGACTACCTCAGCGCCCCTCAGAATCTCCCTGGGGCTGCAGCCCTACCCCA
CCCCGACACAGGGCAGAAGAGCAGCGCTCCTGGCCCCCCGAAGTCCCAGAGCTGCTGACCCCCA
CCCCAGGCAAGTCTCTCCCGCAGCCCCCACACCCCCAGGCCTGGCTCCCTGGCTGGAAAGCAGC
CGGTTTGGCCCTGGAAGTGGACATTCCTCTATTACTGTGAAGTTTTATTTATGAAGAATTTGGA
GGGAGAAGGCTCCAGGCTTCAGGAGGGGGTGGTGTCCTCCCTGGCCCTCCTCCCTTCCCTCCCC
TCATTCCAGCTGCCTGCCCTCAGCACCCCCAGGCCCCTCACAGCCCAGCCCCCTCCAGAGCCCT
GCCCCACCGCACCCTGCTTCTCCAGGGCCTAGCAGACCAGCATCTGCCCCGGTGAAGGGATGGA
TCAGCTGTGGGGGTGGGTGCAGAAGGTTGCCACCTCCTACCTCAGCGGGAGTCACCTAGGAAAG
ATGGAGGGATTGACACTATTTTCTCAATAAAATGGGACTTTTTTTTTTTTTTTTTTTTTTTTTT
GGTGTGAAACTTCCTGTTCCCAGCTGCATCAGAGAGCCTGTCTGGGGCCAAGGTTGCCAGAGAT
TTCTGAAGACACAGCTTGTTCCTTGTTCTTGGCTGGTGGGTGCACAAGGACTTCTGGAAGGGAT
TTAGACGGGGCTGAGTGCTAGGATTAAAGTGGGGATGGGAGTACGGCAACAGAAAAACCTGGGA
GCTAGCAATGCACCCAGCCCTTGACTGTGCCCTGGTGGACAGCCGAGCTGTGGCTCTAGCGTGA
GCCAGTGCCTTCCTGTCCCTGCCAAGGGTGAGGCCAGAGTTGGCCCCGAGGCTAATGTTTCAGT
GGGTGAGATTAGGTCGGCCGTACAGAGGCCGGTGGGCTCCCTGACATCCCTTCCAGGCAACCTG
AAAGCACTGAAATAGCTTATGGCCCTGTGCCAGGGACCTTGGCCCAAGCTGCTGACCTCCAGGG
TGGGGAGGGAGCTACCCCCAGGAGAAGAGTCACTCAGACAGCAGTATGAGCAAGCCAGCCAGCA
GCTCCGTGCCTGCACCCAGCTCAGGGGAATCCCAGGGGGTTCAGATGCCCAGGAAGGAAAAGGG
GACAGCGCTACTGCTATGGAATGAGACCACCACTTCTCCTGTTGTCCTTCCCAGCTTCTCCCCA
ACCTCCCCTTTTCCCTAGTTTATAAGACAGGAGAAAAGGGAGAAAGCAAAAAGCTGGAAAGAAA
CAGAAGTAAGATAAATAGCTAGACGACCTTGGCGCCACCACCTGGCCCTGGTGGTTAAAATGAT
AATAATATTAACCCCTGACCAAAACGACTGGTGTTATCTGTAAATCCCAGACATTGTGTGAGAA
AGCACCGTAAAACTTTTTGTCCTATTAGCTGATGTGTGTAGCCCCCAGTCACGTTCCTCACGCT
TACTTGATCTATTATGACCCTTTCACGTGGACCCCTTAGAGTTGTAAGCTCTTAAAAGGGCTAG
GAATTTCTTTTTCGGGGAGCTCGGCTCTTAAGACGCGAGTCTGCCGACGCTCCCGGCCGAATAA
AAACCTCTTCCTTCTTTAA

hide sequence

Protein Sequences


Protein RefSeqs	NP_660279	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAM61770	(Get FASTA)	NCBI Sequence Viewer
	AAY24246	(Get FASTA)	NCBI Sequence Viewer
	BAG54296	(Get FASTA)	NCBI Sequence Viewer
	EAW70958	(Get FASTA)	NCBI Sequence Viewer
	EAW70959	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000287590
	ENSP00000287590.5
	ENSP00000519481.1
GenBank Protein	Q8NFL0	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_660279 ⟸ NM_145236

- UniProtKB:

B3KWY4 (UniProtKB/Swiss-Prot), B7WNP0 (UniProtKB/Swiss-Prot), Q8NFL0 (UniProtKB/Swiss-Prot), A0AAQ5BHP6 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MSLWKKTVYRSLCLALALLVAVTVFQRSLTPGQFLQEPPPPTLEPQKAQKPNGQLVNPNNFWKN
PKDVAAPTPMASQGPQAWDVTTTNCSANINLTHQPWFQVLEPQFRQFLFYRHCRYFPMLLNHPE
KCRGDVYLLVVVKSVITQHDRREAIRQTWGRERQSAGGGRGAVRTLFLLGTASKQEERTHYQQL
LAYEDRLYGDILQWGFLDTFFNLTLKEIHFLKWLDIYCPHVPFIFKGDDDVFVNPTNLLEFLAD
RQPQENLFVGDVLQHARPIRRKDNKYYIPGALYGKASYPPYAGGGGFLMAGSLARRLHHACDTL
ELYPIDDVFLGMCLEVLGVQPTAHEGFKTFGISRNRNSRMNKEPCFFRAMLVVHKLLPPELLAM
WGLVHSNLTCSRKLQVL

hide sequence

Ensembl Acc Id:

ENSP00000287590 ⟸ ENST00000287590

Ensembl Acc Id:

ENSP00000519481 ⟸ ENST00000714191

Protein Domains

Murine leukemia virus integrase C-terminal

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q8NFL0-F1-model_v2	AlphaFold	Q8NFL0	1-401	view protein structure

Promoters

RGD ID:

6863062

Promoter ID:

EPDNEW_H4696

Type:

initiation region

Name:

B3GNT7_1

Description:

UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7

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	2	231,395,710 - 231,395,770	EPDNEW

RGD ID:

6796842

Promoter ID:

HG_KWN:37695

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

Lymphoblastoid

Transcripts:

ENST00000409305

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	2	231,968,176 - 231,968,676 (+)	MPROMDB

RGD ID:

6796841

Promoter ID:

HG_KWN:37696

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, Lymphoblastoid

Transcripts:

OTTHUMT00000332829

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	2	231,969,261 - 231,970,322 (+)	MPROMDB

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:18811	AgrOrtholog
COSMIC	B3GNT7	COSMIC
Ensembl Genes	ENSG00000156966	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000287590	ENTREZGENE
	ENST00000287590.6	UniProtKB/Swiss-Prot
	ENST00000714191.1	UniProtKB/TrEMBL
Gene3D-CATH	2.30.30.850	UniProtKB/TrEMBL
	3.90.550.50	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000156966	GTEx
HGNC ID	HGNC:18811	ENTREZGENE
Human Proteome Map	B3GNT7	Human Proteome Map
InterPro	Glyco_trans_31	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	MLVIN_C	UniProtKB/TrEMBL
KEGG Report	hsa:93010	UniProtKB/Swiss-Prot
NCBI Gene	93010	ENTREZGENE
OMIM	615313	OMIM
PANTHER	BETA-1,3-N-ACETYLGLUCOSAMINYLTRANSFERASE	UniProtKB/TrEMBL, UniProtKB/Swiss-Prot
	UDP-GLCNAC:BETAGAL BETA-1,3-N-ACETYLGLUCOSAMINYLTRANSFERASE 7	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	Galactosyl_T	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	MLVIN_C	UniProtKB/TrEMBL
PharmGKB	PA38692	PharmGKB
UniProt	A0AAQ5BHP6	ENTREZGENE, UniProtKB/TrEMBL
	B3GN7_HUMAN	UniProtKB/Swiss-Prot
	B3KWY4	ENTREZGENE
	B7WNP0	ENTREZGENE
	Q8NFL0	ENTREZGENE
UniProt Secondary	B3KWY4	UniProtKB/Swiss-Prot
	B7WNP0	UniProtKB/Swiss-Prot

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 Annotations - KEGG (archival)

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Imported Disease Annotations - ClinVar

Imported Annotations - KEGG (archival)