BST1 (bone marrow stromal cell antigen 1) - Rat Genome Database

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Gene: BST1 (bone marrow stromal cell antigen 1) Homo sapiens
Analyze
Symbol: BST1
Name: bone marrow stromal cell antigen 1
RGD ID: 1342632
HGNC Page HGNC:1118
Description: Enables ADP-ribosyl cyclase activity and cyclic ADP-ribose hydrolase. Involved in several processes, including regulation of calcium-mediated signaling; regulation of neutrophil chemotaxis; and regulation of peptidyl-tyrosine phosphorylation. Located in uropod. Is extrinsic component of membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: ADP-ribosyl cyclase 2; ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 2; bone marrow stromal antigen 1; bone marrow stromal cell antigen 1 variant 2; BST-1; cADPr hydrolase 2; cADPR2; CD157; cyclic ADP-ribose hydrolase 2; NAD(+) nucleosidase
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38415,703,065 - 15,774,173 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl415,703,065 - 15,738,313 (+)EnsemblGRCh38hg38GRCh38
GRCh37415,704,688 - 15,734,410 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36415,313,739 - 15,342,893 (+)NCBINCBI36Build 36hg18NCBI36
Build 34415,380,909 - 15,410,064NCBI
Celera416,169,208 - 16,198,432 (+)NCBICelera
Cytogenetic Map4p15.32NCBI
HuRef415,055,184 - 15,084,416 (+)NCBIHuRef
CHM1_1415,702,580 - 15,731,822 (+)NCBICHM1_1
T2T-CHM13v2.0415,684,021 - 15,756,330 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
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. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
4. CD38 and CD157: a long journey from activation markers to multifunctional molecules. Quarona V, etal., Cytometry B Clin Cytom. 2013 Jul-Aug;84(4):207-17. doi: 10.1002/cyto.b.21092. Epub 2013 Apr 10.
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:7805847   PMID:8202488   PMID:8630113   PMID:8645283   PMID:8889548   PMID:8941363   PMID:9030974   PMID:10599889   PMID:11439087   PMID:11602246   PMID:11866528   PMID:12415565  
PMID:12477932   PMID:15328157   PMID:15489334   PMID:15815621   PMID:16335952   PMID:16344560   PMID:18211745   PMID:19052657   PMID:19915576   PMID:20639476   PMID:20697102   PMID:20711177  
PMID:21044948   PMID:21084426   PMID:21248740   PMID:21292315   PMID:21478153   PMID:21685187   PMID:21873635   PMID:21988832   PMID:22451204   PMID:22490479   PMID:22916288   PMID:23026536  
PMID:23376485   PMID:23533145   PMID:23820587   PMID:23827523   PMID:23853107   PMID:24342025   PMID:24413464   PMID:24634087   PMID:24753259   PMID:24795584   PMID:24896331   PMID:25064009  
PMID:25250980   PMID:25986899   PMID:29162908   PMID:29216786   PMID:30676692   PMID:31423876   PMID:31571381   PMID:31861847   PMID:33058446   PMID:33397775   PMID:33625657   PMID:33961781  
PMID:34707185   PMID:34799586  


Genomics

Comparative Map Data
BST1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38415,703,065 - 15,774,173 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl415,703,065 - 15,738,313 (+)EnsemblGRCh38hg38GRCh38
GRCh37415,704,688 - 15,734,410 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36415,313,739 - 15,342,893 (+)NCBINCBI36Build 36hg18NCBI36
Build 34415,380,909 - 15,410,064NCBI
Celera416,169,208 - 16,198,432 (+)NCBICelera
Cytogenetic Map4p15.32NCBI
HuRef415,055,184 - 15,084,416 (+)NCBIHuRef
CHM1_1415,702,580 - 15,731,822 (+)NCBICHM1_1
T2T-CHM13v2.0415,684,021 - 15,756,330 (+)NCBIT2T-CHM13v2.0
Bst1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39543,976,235 - 44,000,810 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl543,976,227 - 44,001,328 (+)EnsemblGRCm39 Ensembl
GRCm38543,818,880 - 43,843,468 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl543,818,885 - 43,843,986 (+)EnsemblGRCm38mm10GRCm38
MGSCv37544,210,132 - 44,234,707 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36544,107,156 - 44,131,559 (+)NCBIMGSCv36mm8
Celera541,248,346 - 41,272,891 (+)NCBICelera
Cytogenetic Map5B3NCBI
cM Map523.84NCBI
Bst1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21467,253,706 - 67,270,203 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1467,252,998 - 67,270,180 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1471,660,168 - 71,676,664 (-)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.01472,933,823 - 72,950,292 (-)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.01469,370,611 - 69,387,107 (-)NCBIRnor_WKY
Rnor_6.01471,798,218 - 71,814,540 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1471,798,651 - 71,814,523 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01471,827,040 - 71,843,340 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41472,404,263 - 72,414,500 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11472,406,653 - 72,415,960 (-)NCBI
Celera1466,211,250 - 66,227,689 (-)NCBICelera
Cytogenetic Map14q21NCBI
Bst1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554808,271,165 - 8,304,548 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554808,273,887 - 8,304,127 (-)NCBIChiLan1.0ChiLan1.0
BST1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1416,191,207 - 16,222,657 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0410,154,453 - 10,183,448 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1415,451,958 - 15,480,195 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl415,451,958 - 15,480,195 (+)Ensemblpanpan1.1panPan2
BST1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1364,617,903 - 64,641,131 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl364,646,051 - 64,648,027 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl364,618,740 - 64,641,038 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha367,135,282 - 67,173,336 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0365,095,732 - 65,133,917 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl365,096,294 - 65,133,784 (-)EnsemblROS_Cfam_1.0 Ensembl
ROS_Cfam_1.0 Ensembl365,096,301 - 65,118,989 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1364,584,797 - 64,622,840 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0364,788,847 - 64,827,043 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0365,149,007 - 65,187,195 (-)NCBIUU_Cfam_GSD_1.0
Bst1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440528558,493,631 - 58,516,705 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647712,195,309 - 12,218,294 (-)EnsemblSpeTri2.0
SpeTri2.0NW_00493647712,195,323 - 12,218,261 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
BST1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl811,011,241 - 11,047,541 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1811,011,131 - 11,043,622 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2810,659,367 - 10,691,619 (+)NCBISscrofa10.2Sscrofa10.2susScr3
BST1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12734,493,150 - 34,524,946 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2734,490,640 - 34,525,196 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604781,229,617 - 81,261,382 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Bst1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475516,134,640 - 16,150,816 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475516,123,705 - 16,161,814 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in BST1
35 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 4p16.3-15.1(chr4:72555-28066309)x1 copy number loss See cases [RCV000051642] Chr4:72555..28066309 [GRCh38]
Chr4:72447..28067931 [GRCh37]
Chr4:62447..27677029 [NCBI36]
Chr4:4p16.3-15.1		 pathogenic
GRCh38/hg38 4p15.33-15.31(chr4:14061129-20121834)x1 copy number loss See cases [RCV000051220] Chr4:14061129..20121834 [GRCh38]
Chr4:14062753..20123457 [GRCh37]
Chr4:13671851..19732555 [NCBI36]
Chr4:4p15.33-15.31		 pathogenic
GRCh38/hg38 4p16.3-15.2(chr4:51519-26519788)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051752]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051752]|See cases [RCV000051752] Chr4:51519..26519788 [GRCh38]
Chr4:51413..26521410 [GRCh37]
Chr4:41413..26130508 [NCBI36]
Chr4:4p16.3-15.2		 pathogenic
GRCh38/hg38 4p16.3-15.1(chr4:72555-33130620)x3 copy number gain See cases [RCV000051753] Chr4:72555..33130620 [GRCh38]
Chr4:72447..33132242 [GRCh37]
Chr4:62447..32808637 [NCBI36]
Chr4:4p16.3-15.1		 pathogenic
GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3 copy number gain See cases [RCV000051757] Chr4:85149..38700366 [GRCh38]
Chr4:85040..38701987 [GRCh37]
Chr4:75040..38378382 [NCBI36]
Chr4:4p16.3-14		 pathogenic
GRCh38/hg38 4p15.33-15.31(chr4:14659764-18274924)x3 copy number gain See cases [RCV000051769] Chr4:14659764..18274924 [GRCh38]
Chr4:14661388..18276547 [GRCh37]
Chr4:14270486..17885645 [NCBI36]
Chr4:4p15.33-15.31		 pathogenic
GRCh38/hg38 4p16.3-15.2(chr4:85149-22450018)x3 copy number gain See cases [RCV000051755] Chr4:85149..22450018 [GRCh38]
Chr4:85040..22451641 [GRCh37]
Chr4:75040..22060739 [NCBI36]
Chr4:4p16.3-15.2		 pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:85149-17486742)x1 copy number loss See cases [RCV000051679] Chr4:85149..17486742 [GRCh38]
Chr4:85040..17488365 [GRCh37]
Chr4:75040..17097463 [NCBI36]
Chr4:4p16.3-15.32		 pathogenic
NM_004334.2(BST1):c.527C>T (p.Ser176Phe) single nucleotide variant Malignant melanoma [RCV000066294] Chr4:15711882 [GRCh38]
Chr4:15713505 [GRCh37]
Chr4:15322603 [NCBI36]
Chr4:4p15.32		 not provided
GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3 copy number gain See cases [RCV000133677] Chr4:72555..39477144 [GRCh38]
Chr4:72447..39478764 [GRCh37]
Chr4:62447..39155159 [NCBI36]
Chr4:4p16.3-14		 pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:72555-17278013)x1 copy number loss See cases [RCV000135657] Chr4:72555..17278013 [GRCh38]
Chr4:72447..17279636 [GRCh37]
Chr4:62447..16888734 [NCBI36]
Chr4:4p16.3-15.32		 pathogenic
GRCh38/hg38 4p16.3-15.31(chr4:51519-17798196)x3 copy number gain See cases [RCV000137071] Chr4:51519..17798196 [GRCh38]
Chr4:51413..17799819 [GRCh37]
Chr4:41413..17408917 [NCBI36]
Chr4:4p16.3-15.31		 pathogenic
GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3 copy number gain See cases [RCV000137261] Chr4:36424..47491595 [GRCh38]
Chr4:36424..47493612 [GRCh37]
Chr4:26424..47188369 [NCBI36]
Chr4:4p16.3-12		 pathogenic
GRCh38/hg38 4p16.3-15.31(chr4:72555-21022414)x3 copy number gain See cases [RCV000138305] Chr4:72555..21022414 [GRCh38]
Chr4:72447..21024037 [GRCh37]
Chr4:62447..20633135 [NCBI36]
Chr4:4p16.3-15.31		 pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:37335-15869056)x1 copy number loss See cases [RCV000139551] Chr4:37335..15869056 [GRCh38]
Chr4:37336..15870679 [GRCh37]
Chr4:27336..15479777 [NCBI36]
Chr4:4p16.3-15.32		 pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:4426403-17460549)x1 copy number loss See cases [RCV000141502] Chr4:4426403..17460549 [GRCh38]
Chr4:4428130..17462172 [GRCh37]
Chr4:4479031..17071270 [NCBI36]
Chr4:4p16.3-15.32		 pathogenic
GRCh38/hg38 4p16.3-15.31(chr4:68453-20385608)x1 copy number loss See cases [RCV000143713] Chr4:68453..20385608 [GRCh38]
Chr4:68345..20387231 [GRCh37]
Chr4:58345..19996329 [NCBI36]
Chr4:4p16.3-15.31		 pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:44020-19796182)x1 copy number loss See cases [RCV000203431] Chr4:44020..19796182 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
GRCh37/hg19 4p16.3-15.1(chr4:71552-29006745)x1 copy number loss See cases [RCV000240003] Chr4:71552..29006745 [GRCh37]
Chr4:4p16.3-15.1		 pathogenic
GRCh37/hg19 4p16.1-15.31(chr4:6447048-20490737)x3 copy number gain See cases [RCV000240007] Chr4:6447048..20490737 [GRCh37]
Chr4:4p16.1-15.31		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3 copy number gain See cases [RCV000240562] Chr4:12440..49064044 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain See cases [RCV000449078] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain See cases [RCV002292704] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:68345-20533787)x1 copy number loss See cases [RCV000449197] Chr4:68345..20533787 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49093788)x3 copy number gain See cases [RCV000446451] Chr4:68345..49093788 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-15.32(chr4:68345-15973383)x1 copy number loss See cases [RCV000510662] Chr4:68345..15973383 [GRCh37]
Chr4:4p16.3-15.32		 pathogenic
GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3 copy number gain See cases [RCV000511193] Chr4:68345..66440622 [GRCh37]
Chr4:4p16.3-q13.1		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain not provided [RCV000682363] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-15.1(chr4:4165334-33324781)x1 copy number loss not provided [RCV000682373] Chr4:4165334..33324781 [GRCh37]
Chr4:4p16.3-15.1		 pathogenic
GRCh37/hg19 4p15.32(chr4:15692058-15753687)x3 copy number gain not provided [RCV000743424] Chr4:15692058..15753687 [GRCh37]
Chr4:4p15.32		 benign
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:1356924-49659859)x3 copy number gain not provided [RCV000743201] Chr4:1356924..49659859 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-12(chr4:49450-46339070)x3 copy number gain not provided [RCV000743154] Chr4:49450..46339070 [GRCh37]
Chr4:4p16.3-12		 pathogenic
GRCh37/hg19 4p15.33-15.2(chr4:13529798-22750583)x1 copy number loss not provided [RCV000998337] Chr4:13529798..22750583 [GRCh37]
Chr4:4p15.33-15.2		 uncertain significance
NM_004334.3(BST1):c.715G>A (p.Gly239Arg) single nucleotide variant not provided [RCV000946785] Chr4:15718917 [GRCh38]
Chr4:15720540 [GRCh37]
Chr4:4p15.32		 benign
Single allele inversion Dihydropteridine reductase deficiency [RCV000768549] Chr4:8398067..17505522 [GRCh38]
Chr4:4p16.1-15.32		 pathogenic
NM_004334.3(BST1):c.370C>T (p.Arg124Cys) single nucleotide variant not provided [RCV000922942] Chr4:15707565 [GRCh38]
Chr4:15709188 [GRCh37]
Chr4:4p15.32		 benign
GRCh37/hg19 4p15.33-15.1(chr4:12778849-27760141) copy number loss not provided [RCV000767707] Chr4:12778849..27760141 [GRCh37]
Chr4:4p15.33-15.1		 pathogenic
GRCh37/hg19 4p16.2-15.32(chr4:5914109-17264668)x1 copy number loss not provided [RCV001005519] Chr4:5914109..17264668 [GRCh37]
Chr4:4p16.2-15.32		 likely pathogenic
NM_004334.3(BST1):c.663A>G (p.Arg221=) single nucleotide variant not provided [RCV000930682] Chr4:15715758 [GRCh38]
Chr4:15717381 [GRCh37]
Chr4:4p15.32		 likely benign
NM_004334.3(BST1):c.694G>A (p.Gly232Arg) single nucleotide variant not provided [RCV000970925] Chr4:15715789 [GRCh38]
Chr4:15717412 [GRCh37]
Chr4:4p15.32		 likely benign
NM_004334.3(BST1):c.301A>G (p.Ile101Val) single nucleotide variant not provided [RCV000948674] Chr4:15705627 [GRCh38]
Chr4:15707250 [GRCh37]
Chr4:4p15.32		 benign
NM_004334.3(BST1):c.435A>G (p.Arg145=) single nucleotide variant not provided [RCV000890689] Chr4:15707630 [GRCh38]
Chr4:15709253 [GRCh37]
Chr4:4p15.32		 benign
GRCh37/hg19 4p16.3-15.2(chr4:68345-27423424)x3 copy number gain not provided [RCV001005510] Chr4:68345..27423424 [GRCh37]
Chr4:4p16.3-15.2		 pathogenic
GRCh37/hg19 4p16.3-15.2(chr4:49450-24280482)x1 copy number loss See cases [RCV001007422] Chr4:49450..24280482 [GRCh37]
Chr4:4p16.3-15.2		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3 copy number gain See cases [RCV001194594] Chr4:49450..49620898 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-15.1(chr4:69671-29702595)x3 copy number gain not provided [RCV001537928] Chr4:69671..29702595 [GRCh37]
Chr4:4p16.3-15.1		 pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:68598-18912995)x1 copy number loss not provided [RCV001537927] Chr4:68598..18912995 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
GRCh37/hg19 4p16.1-15.32(chr4:9577432-16223471)x3 copy number gain not provided [RCV001834299] Chr4:9577432..16223471 [GRCh37]
Chr4:4p16.1-15.32		 likely pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:68345-20587167)x1 copy number loss not provided [RCV001829146] Chr4:68345..20587167 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
NC_000004.11:g.(?_15477557)_(16020183_?)del deletion Joubert syndrome [RCV001958571] Chr4:15477557..16020183 [GRCh37]
Chr4:4p15.32		 pathogenic
NC_000004.11:g.(?_15477557)_(16228080_?)dup duplication Joubert syndrome [RCV003122492]|not provided [RCV003122491] Chr4:15477557..16228080 [GRCh37]
Chr4:4p15.32		 uncertain significance
GRCh37/hg19 4p16.3-15.31(chr4:68345-20964575)x1 copy number loss See cases [RCV002286359] Chr4:68345..20964575 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3 copy number gain FETAL DEMISE [RCV002282978] Chr4:114784..47569569 [GRCh37]
Chr4:4p16.3-12		 pathogenic
NM_004334.3(BST1):c.440A>G (p.Lys147Arg) single nucleotide variant Inborn genetic diseases [RCV002685324] Chr4:15707635 [GRCh38]
Chr4:15709258 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_004334.3(BST1):c.184C>G (p.Gln62Glu) single nucleotide variant Inborn genetic diseases [RCV002841488] Chr4:15703328 [GRCh38]
Chr4:15704951 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_004334.3(BST1):c.373C>T (p.Arg125Cys) single nucleotide variant Inborn genetic diseases [RCV002773778] Chr4:15707568 [GRCh38]
Chr4:15709191 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_004334.3(BST1):c.869A>C (p.Gln290Pro) single nucleotide variant Inborn genetic diseases [RCV002883806] Chr4:15731757 [GRCh38]
Chr4:15733380 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_004334.3(BST1):c.797T>G (p.Val266Gly) single nucleotide variant Inborn genetic diseases [RCV003001093] Chr4:15722880 [GRCh38]
Chr4:15724503 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_004334.3(BST1):c.553G>C (p.Gly185Arg) single nucleotide variant Inborn genetic diseases [RCV002919408] Chr4:15715303 [GRCh38]
Chr4:15716926 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_004334.3(BST1):c.520A>G (p.Arg174Gly) single nucleotide variant Inborn genetic diseases [RCV002664790] Chr4:15711875 [GRCh38]
Chr4:15713498 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_004334.3(BST1):c.662G>A (p.Arg221Gln) single nucleotide variant Inborn genetic diseases [RCV002941800] Chr4:15715757 [GRCh38]
Chr4:15717380 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_004334.3(BST1):c.358G>A (p.Ala120Thr) single nucleotide variant Inborn genetic diseases [RCV002673907] Chr4:15707553 [GRCh38]
Chr4:15709176 [GRCh37]
Chr4:4p15.32		 uncertain significance
GRCh38/hg38 4p15.33-14(chr4:11399082-38137335) copy number loss 4p partial monosomy syndrome [RCV003155905] Chr4:11399082..38137335 [GRCh38]
Chr4:4p15.33-14		 pathogenic
NM_004334.3(BST1):c.390C>G (p.Ser130Arg) single nucleotide variant Inborn genetic diseases [RCV003209506] Chr4:15707585 [GRCh38]
Chr4:15709208 [GRCh37]
Chr4:4p15.32		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1126
Count of miRNA genes:553
Interacting mature miRNAs:598
Transcripts:ENST00000265016, ENST00000382346, ENST00000505785, ENST00000514445, ENST00000514989
Prediction methods:Microtar, Miranda, Rnahybrid
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.

Markers in Region
RH36393  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37415,733,580 - 15,733,679UniSTSGRCh37
Build 36415,342,678 - 15,342,777RGDNCBI36
Celera416,198,216 - 16,198,315RGD
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map4p15UniSTS
HuRef415,084,200 - 15,084,299UniSTS
GeneMap99-GB4 RH Map471.54UniSTS
NCBI RH Map4126.4UniSTS
SHGC-35585  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37415,733,522 - 15,733,742UniSTSGRCh37
Build 36415,342,620 - 15,342,840RGDNCBI36
Celera416,198,158 - 16,198,378RGD
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map4p15UniSTS
HuRef415,084,142 - 15,084,362UniSTS
Stanford-G3 RH Map41014.0UniSTS
GeneMap99-GB4 RH Map476.51UniSTS
Whitehead-RH Map484.7UniSTS
NCBI RH Map4132.7UniSTS
GeneMap99-G3 RH Map4998.0UniSTS
SHGC-50363  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37415,733,522 - 15,733,637UniSTSGRCh37
Build 36415,342,620 - 15,342,735RGDNCBI36
Celera416,198,158 - 16,198,273RGD
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map4p15UniSTS
HuRef415,084,142 - 15,084,257UniSTS
BST1_2659  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37415,733,292 - 15,733,944UniSTSGRCh37
Build 36415,342,390 - 15,343,042RGDNCBI36
Celera416,197,928 - 16,198,580RGD
HuRef415,083,912 - 15,084,564UniSTS
RH17388  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map4p15UniSTS
GeneMap99-GB4 RH Map476.51UniSTS
NCBI RH Map4132.7UniSTS


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
High
Medium 81 1257 45 13 952 13 871 27 274 99 157 361 1 702 474 1
Low 2247 1703 1626 589 530 428 3277 1943 2640 285 1260 1203 166 1 502 2122 4
Below cutoff 106 28 55 20 386 24 208 225 805 35 38 48 7 192 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_004334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005248185 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005248186 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011513878 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011513879 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011513881 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017008565 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017008566 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350753 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350754 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350755 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350757 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350758 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350759 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB175627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC005798 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC114744 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312497 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT019502 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU732655 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D21878 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D87925 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA382561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG587951 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000265016   ⟹   ENSP00000265016
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl415,703,065 - 15,732,787 (+)Ensembl
RefSeq Acc Id: ENST00000382346   ⟹   ENSP00000371783
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl415,703,096 - 15,732,787 (+)Ensembl
RefSeq Acc Id: ENST00000505785   ⟹   ENSP00000423357
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl415,707,509 - 15,723,666 (+)Ensembl
RefSeq Acc Id: ENST00000514445   ⟹   ENSP00000420925
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl415,711,806 - 15,738,308 (+)Ensembl
RefSeq Acc Id: ENST00000514989   ⟹   ENSP00000424761
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl415,715,328 - 15,738,313 (+)Ensembl
RefSeq Acc Id: NM_004334   ⟹   NP_004325
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38415,703,065 - 15,732,787 (+)NCBI
GRCh37415,704,573 - 15,741,121 (+)NCBI
Build 36415,313,739 - 15,342,893 (+)NCBI Archive
HuRef415,055,184 - 15,084,416 (+)ENTREZGENE
CHM1_1415,702,580 - 15,731,822 (+)NCBI
T2T-CHM13v2.0415,685,220 - 15,714,948 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005248185   ⟹   XP_005248242
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38415,703,065 - 15,723,666 (+)NCBI
GRCh37415,704,573 - 15,741,121 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005248186   ⟹   XP_005248243
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38415,703,065 - 15,739,498 (+)NCBI
GRCh37415,704,573 - 15,741,121 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011513878   ⟹   XP_011512180
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38415,703,065 - 15,774,173 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011513879   ⟹   XP_011512181
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38415,703,065 - 15,737,759 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011513881   ⟹   XP_011512183
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38415,703,065 - 15,732,787 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017008565   ⟹   XP_016864054
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38415,703,065 - 15,739,498 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017008566   ⟹   XP_016864055
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38415,703,065 - 15,759,289 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054350753   ⟹   XP_054206728
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0415,685,220 - 15,718,295 (+)NCBI
RefSeq Acc Id: XM_054350754   ⟹   XP_054206729
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0415,685,220 - 15,756,330 (+)NCBI
RefSeq Acc Id: XM_054350755   ⟹   XP_054206730
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0415,685,220 - 15,741,447 (+)NCBI
RefSeq Acc Id: XM_054350756   ⟹   XP_054206731
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0415,685,220 - 15,719,920 (+)NCBI
RefSeq Acc Id: XM_054350757   ⟹   XP_054206732
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0415,685,220 - 15,721,659 (+)NCBI
RefSeq Acc Id: XM_054350758   ⟹   XP_054206733
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0415,685,220 - 15,705,830 (+)NCBI
RefSeq Acc Id: XM_054350759   ⟹   XP_054206734
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0415,684,021 - 15,714,948 (+)NCBI
Reference Sequences
RefSeq Acc Id: NP_004325   ⟸   NM_004334
- Peptide Label: precursor
- UniProtKB: Q96EN3 (UniProtKB/Swiss-Prot),   Q10588 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005248243   ⟸   XM_005248186
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_005248242   ⟸   XM_005248185
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_011512180   ⟸   XM_011513878
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011512181   ⟸   XM_011513879
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011512183   ⟸   XM_011513881
- Peptide Label: isoform X7
- UniProtKB: Q10588 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016864055   ⟸   XM_017008566
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016864054   ⟸   XM_017008565
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000423357   ⟸   ENST00000505785
RefSeq Acc Id: ENSP00000371783   ⟸   ENST00000382346
RefSeq Acc Id: ENSP00000420925   ⟸   ENST00000514445
RefSeq Acc Id: ENSP00000424761   ⟸   ENST00000514989
RefSeq Acc Id: ENSP00000265016   ⟸   ENST00000265016
RefSeq Acc Id: XP_054206734   ⟸   XM_054350759
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054206729   ⟸   XM_054350754
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054206730   ⟸   XM_054350755
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054206732   ⟸   XM_054350757
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054206731   ⟸   XM_054350756
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054206728   ⟸   XM_054350753
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054206733   ⟸   XM_054350758
- Peptide Label: isoform X5

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q10588-F1-model_v2 AlphaFold Q10588 1-318 view protein structure

Promoters
RGD ID:6802197
Promoter ID:HG_KWN:47916
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell
Transcripts:ENST00000382346,   NM_004334
Position:
Human AssemblyChrPosition (strand)Source
Build 36415,313,466 - 15,313,966 (+)MPROMDB
RGD ID:6867074
Promoter ID:EPDNEW_H6702
Type:initiation region
Name:BST1_1
Description:bone marrow stromal cell antigen 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38415,703,065 - 15,703,125EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1118 AgrOrtholog
COSMIC BST1 COSMIC
Ensembl Genes ENSG00000109743 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000265016 ENTREZGENE
  ENSP00000265016.4 UniProtKB/Swiss-Prot
  ENSP00000371783.3 UniProtKB/TrEMBL
  ENSP00000420925.1 UniProtKB/TrEMBL
  ENSP00000423357.1 UniProtKB/TrEMBL
  ENSP00000424761.1 UniProtKB/TrEMBL
Ensembl Transcript ENST00000265016 ENTREZGENE
  ENST00000265016.9 UniProtKB/Swiss-Prot
  ENST00000382346.7 UniProtKB/TrEMBL
  ENST00000505785.5 UniProtKB/TrEMBL
  ENST00000514445.5 UniProtKB/TrEMBL
  ENST00000514989.1 UniProtKB/TrEMBL
Gene3D-CATH NAD(P)-binding Rossmann-like Domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000109743 GTEx
HGNC ID HGNC:1118 ENTREZGENE
Human Proteome Map BST1 Human Proteome Map
InterPro ADP-ribosyl_cyclase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:683 UniProtKB/Swiss-Prot
NCBI Gene 683 ENTREZGENE
OMIM 600387 OMIM
PANTHER ADP-RIBOSYL CYCLASE/CYCLIC ADP-RIBOSE HYDROLASE 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10912 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Rib_hydrolayse UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA25435 PharmGKB
Superfamily-SCOP N-(deoxy)ribosyltransferase-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A386NEX7_HUMAN UniProtKB/TrEMBL
  A6NC48_HUMAN UniProtKB/TrEMBL
  BST1_HUMAN UniProtKB/Swiss-Prot
  H0Y8G4_HUMAN UniProtKB/TrEMBL
  H0Y984_HUMAN UniProtKB/TrEMBL
  H0Y9Q9_HUMAN UniProtKB/TrEMBL
  Q10588 ENTREZGENE
  Q96EN3 ENTREZGENE
UniProt Secondary B2R6A2 UniProtKB/Swiss-Prot
  Q1XII0 UniProtKB/Swiss-Prot
  Q5U0K0 UniProtKB/Swiss-Prot
  Q96EN3 UniProtKB/Swiss-Prot