ZBBX (zinc finger B-box domain containing) - Rat Genome Database

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Gene: ZBBX (zinc finger B-box domain containing) Homo sapiens
Analyze
Symbol: ZBBX
Name: zinc finger B-box domain containing
RGD ID: 1602864
HGNC Page HGNC:26245
Description: Predicted to enable zinc ion binding activity.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: FLJ23049; hypothetical protein flj23049; zinc finger B-box domain-containing protein 1; zinc finger, B-box domain containing
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
GRCh383167,178,402 - 167,407,886 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3167,239,843 - 167,407,874 (-)EnsemblGRCh38hg38GRCh38
GRCh373166,957,631 - 167,125,674 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 363168,440,769 - 168,580,765 (-)NCBINCBI36Build 36hg18NCBI36
Celera3165,356,741 - 165,496,610 (-)NCBICelera
Cytogenetic Map3q26.1NCBI
HuRef3164,328,218 - 164,468,308 (-)NCBIHuRef
CHM1_13166,920,389 - 167,060,354 (-)NCBICHM1_1
T2T-CHM13v2.03169,962,186 - 170,191,769 (-)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

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8889548   PMID:12477932   PMID:14702039   PMID:16344560   PMID:21873635   PMID:28514442   PMID:32296183   PMID:33961781  


Genomics

Comparative Map Data
ZBBX
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383167,178,402 - 167,407,886 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3167,239,843 - 167,407,874 (-)EnsemblGRCh38hg38GRCh38
GRCh373166,957,631 - 167,125,674 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 363168,440,769 - 168,580,765 (-)NCBINCBI36Build 36hg18NCBI36
Celera3165,356,741 - 165,496,610 (-)NCBICelera
Cytogenetic Map3q26.1NCBI
HuRef3164,328,218 - 164,468,308 (-)NCBIHuRef
CHM1_13166,920,389 - 167,060,354 (-)NCBICHM1_1
T2T-CHM13v2.03169,962,186 - 170,191,769 (-)NCBIT2T-CHM13v2.0
Zbbx
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39374,945,202 - 75,072,357 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl374,945,214 - 75,072,341 (-)EnsemblGRCm39 Ensembl
GRCm38375,037,895 - 75,165,050 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl375,037,907 - 75,165,034 (-)EnsemblGRCm38mm10GRCm38
MGSCv37374,841,829 - 74,947,645 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36375,123,833 - 75,229,649 (-)NCBIMGSCv36mm8
Celera375,112,488 - 75,218,383 (-)NCBICelera
Cytogenetic Map3E3NCBI
cM Map333.72NCBI
Zbbx
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82162,134,252 - 162,245,538 (-)NCBIGRCr8
mRatBN7.22159,835,257 - 159,946,926 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2159,835,653 - 159,946,932 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2167,001,078 - 167,088,998 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02165,024,845 - 165,112,674 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02159,657,630 - 159,745,456 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02173,453,609 - 173,565,422 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2173,453,670 - 173,563,273 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02192,792,043 - 192,903,624 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42165,933,066 - 166,004,620 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12165,883,171 - 165,954,726 (-)NCBI
Celera2154,066,993 - 154,136,899 (-)NCBICelera
Cytogenetic Map2q32NCBI
Zbbx
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544816,517,856 - 16,625,269 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495544816,516,677 - 16,625,269 (-)NCBIChiLan1.0ChiLan1.0
ZBBX
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22165,134,040 - 165,274,366 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan13165,138,882 - 165,279,093 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v03164,254,897 - 164,422,008 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.13172,313,638 - 172,451,566 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl3172,313,638 - 172,451,566 (-)Ensemblpanpan1.1panPan2
ZBBX
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13432,170,855 - 32,277,890 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3432,076,431 - 32,277,394 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3441,243,440 - 41,349,872 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03432,249,381 - 32,355,805 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3432,249,413 - 32,355,805 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13432,186,445 - 32,292,860 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03432,154,535 - 32,262,009 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03432,418,725 - 32,525,204 (-)NCBIUU_Cfam_GSD_1.0
Zbbx
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560298,553,704 - 98,684,616 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365934,945,834 - 5,068,179 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365934,945,834 - 5,068,179 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ZBBX
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl13106,149,874 - 106,267,626 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.113106,149,933 - 106,267,636 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.213114,708,583 - 114,826,474 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ZBBX
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11522,052,254 - 22,188,419 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1522,059,137 - 22,188,939 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606330,900,099 - 31,036,731 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Zbbx
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473045,171,868 - 45,296,338 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473045,176,219 - 45,296,200 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ZBBX
54 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 3q26.1-26.2(chr3:166681145-168482463)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051561]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051561]|See cases [RCV000051561] Chr3:166681145..168482463 [GRCh38]
Chr3:166398933..168200251 [GRCh37]
Chr3:167881627..169682945 [NCBI36]
Chr3:3q26.1-26.2
uncertain significance
GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3 copy number gain See cases [RCV000051724] Chr3:147442566..178522531 [GRCh38]
Chr3:147160353..178240319 [GRCh37]
Chr3:148643043..179723013 [NCBI36]
Chr3:3q24-26.32
pathogenic
NM_001199201.1(ZBBX):c.1417+2656T>G single nucleotide variant Lung cancer [RCV000093253] Chr3:167311318 [GRCh38]
Chr3:167029106 [GRCh37]
Chr3:3q26.1
uncertain significance
GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3 copy number gain See cases [RCV000051725] Chr3:147521892..198096565 [GRCh38]
Chr3:147239679..197823436 [GRCh37]
Chr3:148722369..199307833 [NCBI36]
Chr3:3q24-29
pathogenic
GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3 copy number gain See cases [RCV000051726] Chr3:157293378..198134727 [GRCh38]
Chr3:157011167..197861598 [GRCh37]
Chr3:158493861..199345995 [NCBI36]
Chr3:3q25.31-29
pathogenic
GRCh38/hg38 3q25.32-26.31(chr3:158141556-172788324)x3 copy number gain See cases [RCV000051735] Chr3:158141556..172788324 [GRCh38]
Chr3:157859345..172506114 [GRCh37]
Chr3:159342039..173988808 [NCBI36]
Chr3:3q25.32-26.31
pathogenic
GRCh38/hg38 3q22.3-29(chr3:137126982-198110178)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|See cases [RCV000051723] Chr3:137126982..198110178 [GRCh38]
Chr3:136845824..197837049 [GRCh37]
Chr3:138328514..199321446 [NCBI36]
Chr3:3q22.3-29
pathogenic
NM_001199201.1(ZBBX):c.2255-8993G>T single nucleotide variant Lung cancer [RCV000093250] Chr3:167251636 [GRCh38]
Chr3:166969424 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001199201.1(ZBBX):c.2254+13848G>T single nucleotide variant Lung cancer [RCV000093251] Chr3:167268390 [GRCh38]
Chr3:166986178 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001199201.1(ZBBX):c.1418-3091G>T single nucleotide variant Lung cancer [RCV000093252] Chr3:167309041 [GRCh38]
Chr3:167026829 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001199201.1(ZBBX):c.529-583G>T single nucleotide variant Lung cancer [RCV000093254] Chr3:167334568 [GRCh38]
Chr3:167052356 [GRCh37]
Chr3:3q26.1
uncertain significance
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 copy number gain See cases [RCV000134948] Chr3:103426882..198110178 [GRCh38]
Chr3:103145726..197837049 [GRCh37]
Chr3:104628416..199321446 [NCBI36]
Chr3:3q13.11-29
pathogenic
GRCh38/hg38 3q26.1(chr3:167281403-167554689)x1 copy number loss See cases [RCV000139458] Chr3:167281403..167554689 [GRCh38]
Chr3:166999191..167272477 [GRCh37]
Chr3:168481885..168755171 [NCBI36]
Chr3:3q26.1
uncertain significance
GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3 copy number gain See cases [RCV000143694] Chr3:166137209..198125115 [GRCh38]
Chr3:165854997..197851986 [GRCh37]
Chr3:167337691..199336383 [NCBI36]
Chr3:3q26.1-29
pathogenic
NC_000003.12:g.167210410T>A single nucleotide variant Lung cancer [RCV000093248] Chr3:167210410 [GRCh38]
Chr3:166928198 [GRCh37]
Chr3:3q26.1
uncertain significance
GRCh38/hg38 3q26.1-26.2(chr3:166831737-170631211)x3 copy number gain See cases [RCV000136642] Chr3:166831737..170631211 [GRCh38]
Chr3:166549525..170349000 [GRCh37]
Chr3:168032219..171831694 [NCBI36]
Chr3:3q26.1-26.2
uncertain significance
GRCh38/hg38 3q26.1-26.33(chr3:165158611-180130168)x3 copy number gain See cases [RCV000139359] Chr3:165158611..180130168 [GRCh38]
Chr3:164876399..179847956 [GRCh37]
Chr3:166359093..181330650 [NCBI36]
Chr3:3q26.1-26.33
pathogenic
GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3 copy number gain See cases [RCV000139435] Chr3:152100512..198118383 [GRCh38]
Chr3:151818301..197845254 [GRCh37]
Chr3:153300991..199329651 [NCBI36]
Chr3:3q25.1-29
pathogenic
GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3 copy number gain See cases [RCV000140849] Chr3:156321878..198113452 [GRCh38]
Chr3:156039667..197840323 [GRCh37]
Chr3:157522361..199324720 [NCBI36]
Chr3:3q25.31-29
pathogenic
GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3 copy number gain See cases [RCV000142310] Chr3:156118441..198125115 [GRCh38]
Chr3:155836230..197851986 [GRCh37]
Chr3:157318924..199336383 [NCBI36]
Chr3:3q25.31-29
pathogenic
NC_000003.12:g.167238062T>C single nucleotide variant Lung cancer [RCV000093249] Chr3:167238062 [GRCh38]
Chr3:166955850 [GRCh37]
Chr3:3q26.1
uncertain significance
GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4 copy number gain See cases [RCV000240256] Chr3:142995020..192997215 [GRCh37]
Chr3:3q24-29
pathogenic
NM_001199201.2(ZBBX):c.653C>T (p.Pro218Leu) single nucleotide variant Inborn genetic diseases [RCV003245576] Chr3:167333861 [GRCh38]
Chr3:167051649 [GRCh37]
Chr3:3q26.1
uncertain significance
GRCh37/hg19 3q26.1(chr3:163657369-167073454)x1 copy number loss See cases [RCV000448579] Chr3:163657369..167073454 [GRCh37]
Chr3:3q26.1
uncertain significance
GRCh37/hg19 3q26.1-26.2(chr3:163595552-168022596)x3 copy number gain See cases [RCV000448072] Chr3:163595552..168022596 [GRCh37]
Chr3:3q26.1-26.2
uncertain significance
NM_001199201.2(ZBBX):c.841A>G (p.Asn281Asp) single nucleotide variant Inborn genetic diseases [RCV003292176] Chr3:167327963 [GRCh38]
Chr3:167045751 [GRCh37]
Chr3:3q26.1
uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3 copy number gain See cases [RCV000447464] Chr3:158980631..197766890 [GRCh37]
Chr3:3q25.32-29
pathogenic
GRCh37/hg19 3q25.32-26.33(chr3:157128738-181637333)x3 copy number gain See cases [RCV000446611] Chr3:157128738..181637333 [GRCh37]
Chr3:3q25.32-26.33
pathogenic
GRCh37/hg19 3q25.2-29(chr3:152356847-197851986)x3 copy number gain See cases [RCV000448608] Chr3:152356847..197851986 [GRCh37]
Chr3:3q25.2-29
pathogenic
GRCh37/hg19 3q24-26.2(chr3:147180945-168415875)x1 copy number loss See cases [RCV000448130] Chr3:147180945..168415875 [GRCh37]
Chr3:3q24-26.2
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3q26.1(chr3:166902027-167019204)x1 copy number loss not provided [RCV001005484] Chr3:166902027..167019204 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001199201.2(ZBBX):c.1078G>A (p.Asp360Asn) single nucleotide variant not provided [RCV000892636] Chr3:167317503 [GRCh38]
Chr3:167035291 [GRCh37]
Chr3:3q26.1
benign
NM_001199201.2(ZBBX):c.2457G>T (p.Glu819Asp) single nucleotide variant Inborn genetic diseases [RCV003292313] Chr3:167240856 [GRCh38]
Chr3:166958644 [GRCh37]
Chr3:3q26.1
likely benign
NM_001199201.2(ZBBX):c.1015C>T (p.Pro339Ser) single nucleotide variant not provided [RCV000891380] Chr3:167317566 [GRCh38]
Chr3:167035354 [GRCh37]
Chr3:3q26.1
benign
GRCh37/hg19 3q26.1(chr3:166831213-167390123)x1 copy number loss not provided [RCV001259723] Chr3:166831213..167390123 [GRCh37]
Chr3:3q26.1
uncertain significance
GRCh37/hg19 3q26.1-26.2(chr3:163595552-168022596) copy number gain not specified [RCV002053385] Chr3:163595552..168022596 [GRCh37]
Chr3:3q26.1-26.2
uncertain significance
NM_001199201.2(ZBBX):c.384G>C (p.Lys128Asn) single nucleotide variant Inborn genetic diseases [RCV002688037] Chr3:167359918 [GRCh38]
Chr3:167077706 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001199201.2(ZBBX):c.1580A>C (p.Glu527Ala) single nucleotide variant Inborn genetic diseases [RCV002974264] Chr3:167305788 [GRCh38]
Chr3:167023576 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001199201.2(ZBBX):c.1450G>A (p.Val484Met) single nucleotide variant Inborn genetic diseases [RCV002783998] Chr3:167305918 [GRCh38]
Chr3:167023706 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001199201.2(ZBBX):c.2323A>G (p.Ile775Val) single nucleotide variant Inborn genetic diseases [RCV002888787] Chr3:167242575 [GRCh38]
Chr3:166960363 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001199201.2(ZBBX):c.2001G>T (p.Gln667His) single nucleotide variant Inborn genetic diseases [RCV002703665] Chr3:167282491 [GRCh38]
Chr3:167000279 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001199201.2(ZBBX):c.802C>G (p.Gln268Glu) single nucleotide variant Inborn genetic diseases [RCV002743211] Chr3:167328002 [GRCh38]
Chr3:167045790 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001199201.2(ZBBX):c.2315C>T (p.Ser772Leu) single nucleotide variant Inborn genetic diseases [RCV002826108] Chr3:167242583 [GRCh38]
Chr3:166960371 [GRCh37]
Chr3:3q26.1
likely benign
NM_001199201.2(ZBBX):c.881A>G (p.Glu294Gly) single nucleotide variant Inborn genetic diseases [RCV002874896] Chr3:167322219 [GRCh38]
Chr3:167040007 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001199201.2(ZBBX):c.1929T>A (p.Asn643Lys) single nucleotide variant Inborn genetic diseases [RCV002893693] Chr3:167288934 [GRCh38]
Chr3:167006722 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001199201.2(ZBBX):c.2264A>G (p.Glu755Gly) single nucleotide variant Inborn genetic diseases [RCV002675054] Chr3:167242634 [GRCh38]
Chr3:166960422 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001199201.2(ZBBX):c.880G>A (p.Glu294Lys) single nucleotide variant Inborn genetic diseases [RCV002668855] Chr3:167322220 [GRCh38]
Chr3:167040008 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001199201.2(ZBBX):c.1112A>G (p.Gln371Arg) single nucleotide variant Inborn genetic diseases [RCV002963566] Chr3:167317087 [GRCh38]
Chr3:167034875 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001199201.2(ZBBX):c.1179A>G (p.Ile393Met) single nucleotide variant Inborn genetic diseases [RCV002896850] Chr3:167317020 [GRCh38]
Chr3:167034808 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001199201.2(ZBBX):c.761A>G (p.Asp254Gly) single nucleotide variant Inborn genetic diseases [RCV002768802] Chr3:167328043 [GRCh38]
Chr3:167045831 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001199201.2(ZBBX):c.226G>C (p.Val76Leu) single nucleotide variant Inborn genetic diseases [RCV002718709] Chr3:167365933 [GRCh38]
Chr3:167083721 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001199201.2(ZBBX):c.2362G>C (p.Val788Leu) single nucleotide variant Inborn genetic diseases [RCV002675264] Chr3:167242536 [GRCh38]
Chr3:166960324 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001199201.2(ZBBX):c.924T>G (p.Ile308Met) single nucleotide variant Inborn genetic diseases [RCV002719571] Chr3:167322176 [GRCh38]
Chr3:167039964 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001199201.2(ZBBX):c.1880A>G (p.Glu627Gly) single nucleotide variant Inborn genetic diseases [RCV002944684] Chr3:167288983 [GRCh38]
Chr3:167006771 [GRCh37]
Chr3:3q26.1
likely benign
NM_001199201.2(ZBBX):c.439C>T (p.Leu147Phe) single nucleotide variant Inborn genetic diseases [RCV003189541] Chr3:167350509 [GRCh38]
Chr3:167068297 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001199201.2(ZBBX):c.2313A>G (p.Gln771=) single nucleotide variant not provided [RCV003439047] Chr3:167242585 [GRCh38]
Chr3:166960373 [GRCh37]
Chr3:3q26.1
likely benign
GRCh37/hg19 3q26.1-26.2(chr3:164432414-167873834)x1 copy number loss not provided [RCV003885505] Chr3:164432414..167873834 [GRCh37]
Chr3:3q26.1-26.2
pathogenic
NM_001199201.2(ZBBX):c.1570G>A (p.Val524Ile) single nucleotide variant Inborn genetic diseases [RCV003266935] Chr3:167305798 [GRCh38]
Chr3:167023586 [GRCh37]
Chr3:3q26.1
likely benign
GRCh37/hg19 3q26.1(chr3:166278645-167113205)x1 copy number loss not provided [RCV000742951] Chr3:166278645..167113205 [GRCh37]
Chr3:3q26.1
uncertain significance
GRCh37/hg19 3q26.1-26.2(chr3:165603872-168796960)x1 copy number loss not provided [RCV000847552] Chr3:165603872..168796960 [GRCh37]
Chr3:3q26.1-26.2
pathogenic
NM_001199201.2(ZBBX):c.851C>T (p.Ala284Val) single nucleotide variant not provided [RCV000891381] Chr3:167327953 [GRCh38]
Chr3:167045741 [GRCh37]
Chr3:3q26.1
benign
GRCh37/hg19 3q25.32-26.33(chr3:157128738-181637333) copy number gain not specified [RCV002053382] Chr3:157128738..181637333 [GRCh37]
Chr3:3q25.32-26.33
pathogenic
GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3 copy number gain not provided [RCV002472621] Chr3:116620308..172042292 [GRCh37]
Chr3:3q13.31-26.31
pathogenic
NM_001199201.2(ZBBX):c.947C>T (p.Ser316Phe) single nucleotide variant Inborn genetic diseases [RCV002883585] Chr3:167322153 [GRCh38]
Chr3:167039941 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001199201.2(ZBBX):c.1804A>G (p.Thr602Ala) single nucleotide variant Inborn genetic diseases [RCV002661268] Chr3:167298380 [GRCh38]
Chr3:167016168 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001199201.2(ZBBX):c.86G>A (p.Arg29Gln) single nucleotide variant Inborn genetic diseases [RCV003001314] Chr3:167368557 [GRCh38]
Chr3:167086345 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001199201.2(ZBBX):c.190G>A (p.Glu64Lys) single nucleotide variant Inborn genetic diseases [RCV002826376] Chr3:167365969 [GRCh38]
Chr3:167083757 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001199201.2(ZBBX):c.718C>T (p.Arg240Cys) single nucleotide variant Inborn genetic diseases [RCV002762890] Chr3:167328086 [GRCh38]
Chr3:167045874 [GRCh37]
Chr3:3q26.1
likely benign
NM_001199201.2(ZBBX):c.1604G>T (p.Arg535Ile) single nucleotide variant Inborn genetic diseases [RCV002809259] Chr3:167305764 [GRCh38]
Chr3:167023552 [GRCh37]
Chr3:3q26.1
likely benign
NM_001199201.2(ZBBX):c.831C>G (p.Asn277Lys) single nucleotide variant Inborn genetic diseases [RCV003183436] Chr3:167327973 [GRCh38]
Chr3:167045761 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001199201.2(ZBBX):c.1313A>G (p.Tyr438Cys) single nucleotide variant Inborn genetic diseases [RCV003216969] Chr3:167314078 [GRCh38]
Chr3:167031866 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001199201.2(ZBBX):c.1310C>T (p.Pro437Leu) single nucleotide variant Inborn genetic diseases [RCV003213168] Chr3:167314081 [GRCh38]
Chr3:167031869 [GRCh37]
Chr3:3q26.1
likely benign
NM_001199201.2(ZBBX):c.416A>G (p.Asn139Ser) single nucleotide variant Inborn genetic diseases [RCV003344268] Chr3:167359886 [GRCh38]
Chr3:167077674 [GRCh37]
Chr3:3q26.1
uncertain significance
Single allele duplication not provided [RCV003448680] Chr3:140154329..197847235 [GRCh37]
Chr3:3q23-29
pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1379
Count of miRNA genes:503
Interacting mature miRNAs:545
Transcripts:ENST00000307529, ENST00000392764, ENST00000392766, ENST00000392767, ENST00000455345, ENST00000464922, ENST00000465071, ENST00000469220, ENST00000473888, ENST00000474464, ENST00000485651, ENST00000492642, ENST00000494898
Prediction methods:Microtar, 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.

Markers in Region
D3S3712  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373166,969,608 - 166,969,803UniSTSGRCh37
Build 363168,452,302 - 168,452,497RGDNCBI36
Celera3165,368,256 - 165,368,457RGD
Cytogenetic Map3q26.1UniSTS
HuRef3164,339,749 - 164,339,950UniSTS
Marshfield Genetic Map3176.54UniSTS
Marshfield Genetic Map3176.54RGD
Genethon Genetic Map3181.4UniSTS
Whitehead-YAC Contig Map3 UniSTS
SHGC-143529  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373167,069,450 - 167,069,724UniSTSGRCh37
Build 363168,552,144 - 168,552,418RGDNCBI36
Celera3165,468,049 - 165,468,323RGD
Cytogenetic Map3q26.1UniSTS
HuRef3164,439,683 - 164,439,957UniSTS
TNG Radiation Hybrid Map393589.0UniSTS
D3S2356  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373166,992,225 - 166,992,526UniSTSGRCh37
Build 363168,474,919 - 168,475,220RGDNCBI36
Celera3165,390,898 - 165,391,199RGD
Cytogenetic Map3q26.1UniSTS
HuRef3164,362,388 - 164,362,689UniSTS
Whitehead-YAC Contig Map3 UniSTS
SHGC-112354  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373167,083,834 - 167,084,138UniSTSGRCh37
Build 363168,566,528 - 168,566,832RGDNCBI36
Celera3165,482,380 - 165,482,684RGD
Cytogenetic Map3q26.1UniSTS
HuRef3164,454,064 - 164,454,368UniSTS
TNG Radiation Hybrid Map393580.0UniSTS
RH92014  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3q26.1UniSTS
GeneMap99-GB4 RH Map3610.46UniSTS


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
High
Medium 10 1 1 118 374 111
Low 10 4 306 4 21 4 185 5 2006 85 199 359 1 2 5
Below cutoff 1130 964 675 146 486 88 1661 774 1328 214 498 765 62 1 558 1076

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001199201 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001199202 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377489 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_024687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011513144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011513145 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011513148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011513149 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011513151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011513152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011513153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011513155 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011513156 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017007186 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017007187 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017007188 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017007189 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453753 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448951 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448952 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448953 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448954 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347896 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347897 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347898 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347899 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347900 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347901 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347902 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347904 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347905 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347906 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347907 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347908 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347909 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347910 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001740269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008486795 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008486796 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008486797 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_924172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_924173 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_924174 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_924177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC107311 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC112501 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC117463 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK093296 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC034229 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC144444 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB321707 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA590037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB078376 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000307529   ⟹   ENSP00000305065
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3167,240,329 - 167,372,988 (-)Ensembl
RefSeq Acc Id: ENST00000392764   ⟹   ENSP00000376517
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3167,240,632 - 167,380,283 (-)Ensembl
RefSeq Acc Id: ENST00000392766   ⟹   ENSP00000376519
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3167,240,287 - 167,380,301 (-)Ensembl
RefSeq Acc Id: ENST00000392767   ⟹   ENSP00000376520
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3167,240,329 - 167,372,988 (-)Ensembl
RefSeq Acc Id: ENST00000455345   ⟹   ENSP00000390232
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3167,240,429 - 167,407,853 (-)Ensembl
RefSeq Acc Id: ENST00000464922   ⟹   ENSP00000419264
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3167,240,638 - 167,282,321 (-)Ensembl
RefSeq Acc Id: ENST00000465071
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3167,240,638 - 167,282,572 (-)Ensembl
RefSeq Acc Id: ENST00000469220
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3167,317,005 - 167,379,794 (-)Ensembl
RefSeq Acc Id: ENST00000473888
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3167,368,456 - 167,381,346 (-)Ensembl
RefSeq Acc Id: ENST00000474464   ⟹   ENSP00000419307
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3167,350,457 - 167,380,297 (-)Ensembl
RefSeq Acc Id: ENST00000485651   ⟹   ENSP00000417088
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3167,366,814 - 167,380,301 (-)Ensembl
RefSeq Acc Id: ENST00000492642   ⟹   ENSP00000418861
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3167,240,632 - 167,282,459 (-)Ensembl
RefSeq Acc Id: ENST00000494898   ⟹   ENSP00000417678
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3167,240,632 - 167,282,442 (-)Ensembl
RefSeq Acc Id: ENST00000674903   ⟹   ENSP00000502279
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3167,240,444 - 167,407,874 (-)Ensembl
RefSeq Acc Id: ENST00000675490   ⟹   ENSP00000502603
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3167,239,843 - 167,380,297 (-)Ensembl
RefSeq Acc Id: NM_001199201   ⟹   NP_001186130
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383167,239,843 - 167,380,297 (-)NCBI
GRCh373166,958,075 - 167,098,193 (-)NCBI
HuRef3164,328,218 - 164,468,308 (-)ENTREZGENE
CHM1_13166,920,389 - 167,060,354 (-)NCBI
T2T-CHM13v2.03170,023,622 - 170,164,175 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001199202   ⟹   NP_001186131
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383167,239,843 - 167,380,297 (-)NCBI
GRCh373166,958,075 - 167,098,193 (-)NCBI
HuRef3164,328,218 - 164,468,308 (-)ENTREZGENE
CHM1_13166,920,389 - 167,060,340 (-)NCBI
T2T-CHM13v2.03170,023,622 - 170,164,175 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001377489   ⟹   NP_001364418
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383167,239,843 - 167,407,886 (-)NCBI
T2T-CHM13v2.03170,023,622 - 170,191,769 (-)NCBI
Sequence:
RefSeq Acc Id: NM_024687   ⟹   NP_078963
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383167,239,843 - 167,380,297 (-)NCBI
GRCh373166,958,075 - 167,098,193 (-)NCBI
Build 363168,440,769 - 168,580,765 (-)NCBI Archive
Celera3165,356,741 - 165,496,610 (-)RGD
HuRef3164,328,218 - 164,468,308 (-)ENTREZGENE
CHM1_13166,920,389 - 167,060,354 (-)NCBI
T2T-CHM13v2.03170,023,622 - 170,164,175 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011513145   ⟹   XP_011511447
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383167,239,877 - 167,380,405 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011513148   ⟹   XP_011511450
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383167,239,877 - 167,380,405 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011513152   ⟹   XP_011511454
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383167,239,877 - 167,365,971 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011513153   ⟹   XP_011511455
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383167,239,877 - 167,331,688 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011513155   ⟹   XP_011511457
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383167,315,750 - 167,380,405 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011513156   ⟹   XP_011511458
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383167,314,030 - 167,380,405 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017007186   ⟹   XP_016862675
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383167,239,877 - 167,380,405 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017007187   ⟹   XP_016862676
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383167,239,877 - 167,380,405 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017007188   ⟹   XP_016862677
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383167,239,877 - 167,380,405 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017007189   ⟹   XP_016862678
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383167,239,877 - 167,380,405 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024453753   ⟹   XP_024309521
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383167,183,210 - 167,380,405 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047448951   ⟹   XP_047304907
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383167,239,877 - 167,372,923 (-)NCBI
RefSeq Acc Id: XM_047448952   ⟹   XP_047304908
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383167,239,877 - 167,380,405 (-)NCBI
RefSeq Acc Id: XM_047448953   ⟹   XP_047304909
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383167,239,877 - 167,380,405 (-)NCBI
RefSeq Acc Id: XM_047448954   ⟹   XP_047304910
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383167,239,877 - 167,368,532 (-)NCBI
RefSeq Acc Id: XM_047448955   ⟹   XP_047304911
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383167,242,557 - 167,380,405 (-)NCBI
RefSeq Acc Id: XM_054347895   ⟹   XP_054203870
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03170,023,656 - 170,164,283 (-)NCBI
RefSeq Acc Id: XM_054347896   ⟹   XP_054203871
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03170,023,656 - 170,164,283 (-)NCBI
RefSeq Acc Id: XM_054347897   ⟹   XP_054203872
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03170,023,656 - 170,164,283 (-)NCBI
RefSeq Acc Id: XM_054347898   ⟹   XP_054203873
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03170,023,656 - 170,164,283 (-)NCBI
RefSeq Acc Id: XM_054347899   ⟹   XP_054203874
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03170,023,656 - 170,156,801 (-)NCBI
RefSeq Acc Id: XM_054347900   ⟹   XP_054203875
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03170,023,656 - 170,164,283 (-)NCBI
RefSeq Acc Id: XM_054347901   ⟹   XP_054203876
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03170,023,656 - 170,164,283 (-)NCBI
RefSeq Acc Id: XM_054347902   ⟹   XP_054203877
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03170,023,656 - 170,164,283 (-)NCBI
RefSeq Acc Id: XM_054347903   ⟹   XP_054203878
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03170,023,656 - 170,164,283 (-)NCBI
RefSeq Acc Id: XM_054347904   ⟹   XP_054203879
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03170,023,656 - 170,152,410 (-)NCBI
RefSeq Acc Id: XM_054347905   ⟹   XP_054203880
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03170,026,336 - 170,164,283 (-)NCBI
RefSeq Acc Id: XM_054347906   ⟹   XP_054203881
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03169,966,995 - 170,164,283 (-)NCBI
RefSeq Acc Id: XM_054347907   ⟹   XP_054203882
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03170,023,656 - 170,149,853 (-)NCBI
RefSeq Acc Id: XM_054347908   ⟹   XP_054203883
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03170,023,656 - 170,115,545 (-)NCBI
RefSeq Acc Id: XM_054347909   ⟹   XP_054203884
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03170,099,538 - 170,164,283 (-)NCBI
RefSeq Acc Id: XM_054347910   ⟹   XP_054203885
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03170,097,818 - 170,164,283 (-)NCBI
RefSeq Acc Id: XR_008486795
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03170,026,338 - 170,164,283 (-)NCBI
RefSeq Acc Id: XR_008486796
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03169,962,186 - 170,164,283 (-)NCBI
RefSeq Acc Id: XR_008486797
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03170,097,834 - 170,164,283 (-)NCBI
RefSeq Acc Id: XR_924173
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383167,242,559 - 167,380,405 (-)NCBI
Sequence:
RefSeq Acc Id: XR_924174
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383167,178,402 - 167,380,405 (-)NCBI
Sequence:
RefSeq Acc Id: XR_924177
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383167,314,046 - 167,380,405 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001186130 (Get FASTA)   NCBI Sequence Viewer  
  NP_001186131 (Get FASTA)   NCBI Sequence Viewer  
  NP_001364418 (Get FASTA)   NCBI Sequence Viewer  
  NP_078963 (Get FASTA)   NCBI Sequence Viewer  
  XP_011511447 (Get FASTA)   NCBI Sequence Viewer  
  XP_011511450 (Get FASTA)   NCBI Sequence Viewer  
  XP_011511454 (Get FASTA)   NCBI Sequence Viewer  
  XP_011511455 (Get FASTA)   NCBI Sequence Viewer  
  XP_011511457 (Get FASTA)   NCBI Sequence Viewer  
  XP_011511458 (Get FASTA)   NCBI Sequence Viewer  
  XP_016862675 (Get FASTA)   NCBI Sequence Viewer  
  XP_016862676 (Get FASTA)   NCBI Sequence Viewer  
  XP_016862677 (Get FASTA)   NCBI Sequence Viewer  
  XP_016862678 (Get FASTA)   NCBI Sequence Viewer  
  XP_024309521 (Get FASTA)   NCBI Sequence Viewer  
  XP_047304907 (Get FASTA)   NCBI Sequence Viewer  
  XP_047304908 (Get FASTA)   NCBI Sequence Viewer  
  XP_047304909 (Get FASTA)   NCBI Sequence Viewer  
  XP_047304910 (Get FASTA)   NCBI Sequence Viewer  
  XP_047304911 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203870 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203871 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203872 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203873 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203874 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203875 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203876 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203877 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203878 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203879 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203880 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203881 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203882 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203883 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203884 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203885 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein A8MT70 (Get FASTA)   NCBI Sequence Viewer  
  AAI44445 (Get FASTA)   NCBI Sequence Viewer  
  BAB15532 (Get FASTA)   NCBI Sequence Viewer  
  BAG52683 (Get FASTA)   NCBI Sequence Viewer  
  EAW78589 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000305065
  ENSP00000305065.5
  ENSP00000376517
  ENSP00000376517.1
  ENSP00000376519
  ENSP00000376519.2
  ENSP00000376520.3
  ENSP00000390232
  ENSP00000390232.3
  ENSP00000417088.1
  ENSP00000417678.1
  ENSP00000418861.1
  ENSP00000419264.1
  ENSP00000419307.1
  ENSP00000502279
  ENSP00000502279.1
  ENSP00000502603
  ENSP00000502603.1
RefSeq Acc Id: NP_078963   ⟸   NM_024687
- Peptide Label: isoform 2
- UniProtKB: F2Z370 (UniProtKB/Swiss-Prot),   B5MDJ6 (UniProtKB/Swiss-Prot),   B3KSC1 (UniProtKB/Swiss-Prot),   A8MV69 (UniProtKB/Swiss-Prot),   Q9H5T8 (UniProtKB/Swiss-Prot),   A8MT70 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001186130   ⟸   NM_001199201
- Peptide Label: isoform 1
- UniProtKB: B7ZMD2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001186131   ⟸   NM_001199202
- Peptide Label: isoform 3
- UniProtKB: B7ZMD2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011511447   ⟸   XM_011513145
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011511450   ⟸   XM_011513148
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011511454   ⟸   XM_011513152
- Peptide Label: isoform X11
- Sequence:
RefSeq Acc Id: XP_011511455   ⟸   XM_011513153
- Peptide Label: isoform X12
- Sequence:
RefSeq Acc Id: XP_011511458   ⟸   XM_011513156
- Peptide Label: isoform X13
- UniProtKB: A0A6Q8PGH4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011511457   ⟸   XM_011513155
- Peptide Label: isoform X13
- UniProtKB: A0A6Q8PGH4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016862677   ⟸   XM_017007188
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_016862676   ⟸   XM_017007187
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016862675   ⟸   XM_017007186
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016862678   ⟸   XM_017007189
- Peptide Label: isoform X7
- UniProtKB: F2Z370 (UniProtKB/Swiss-Prot),   B5MDJ6 (UniProtKB/Swiss-Prot),   B3KSC1 (UniProtKB/Swiss-Prot),   A8MV69 (UniProtKB/Swiss-Prot),   Q9H5T8 (UniProtKB/Swiss-Prot),   A8MT70 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_024309521   ⟸   XM_024453753
- Peptide Label: isoform X10
- Sequence:
RefSeq Acc Id: NP_001364418   ⟸   NM_001377489
- Peptide Label: isoform 2
- UniProtKB: F2Z370 (UniProtKB/Swiss-Prot),   B5MDJ6 (UniProtKB/Swiss-Prot),   B3KSC1 (UniProtKB/Swiss-Prot),   A8MV69 (UniProtKB/Swiss-Prot),   A8MT70 (UniProtKB/Swiss-Prot),   Q9H5T8 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: ENSP00000419264   ⟸   ENST00000464922
RefSeq Acc Id: ENSP00000305065   ⟸   ENST00000307529
RefSeq Acc Id: ENSP00000418861   ⟸   ENST00000492642
RefSeq Acc Id: ENSP00000417678   ⟸   ENST00000494898
RefSeq Acc Id: ENSP00000390232   ⟸   ENST00000455345
RefSeq Acc Id: ENSP00000376519   ⟸   ENST00000392766
RefSeq Acc Id: ENSP00000376520   ⟸   ENST00000392767
RefSeq Acc Id: ENSP00000376517   ⟸   ENST00000392764
RefSeq Acc Id: ENSP00000417088   ⟸   ENST00000485651
RefSeq Acc Id: ENSP00000419307   ⟸   ENST00000474464
RefSeq Acc Id: ENSP00000502279   ⟸   ENST00000674903
RefSeq Acc Id: ENSP00000502603   ⟸   ENST00000675490
RefSeq Acc Id: XP_047304909   ⟸   XM_047448953
- Peptide Label: isoform X7
- UniProtKB: F2Z370 (UniProtKB/Swiss-Prot),   B5MDJ6 (UniProtKB/Swiss-Prot),   B3KSC1 (UniProtKB/Swiss-Prot),   A8MV69 (UniProtKB/Swiss-Prot),   A8MT70 (UniProtKB/Swiss-Prot),   Q9H5T8 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047304908   ⟸   XM_047448952
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047304907   ⟸   XM_047448951
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047304910   ⟸   XM_047448954
- Peptide Label: isoform X8
RefSeq Acc Id: XP_047304911   ⟸   XM_047448955
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054203881   ⟸   XM_054347906
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054203877   ⟸   XM_054347902
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054203875   ⟸   XM_054347900
- Peptide Label: isoform X5
- UniProtKB: B7ZMD2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054203878   ⟸   XM_054347903
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054203871   ⟸   XM_054347896
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054203872   ⟸   XM_054347897
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054203876   ⟸   XM_054347901
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054203873   ⟸   XM_054347898
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054203870   ⟸   XM_054347895
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054203874   ⟸   XM_054347899
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054203879   ⟸   XM_054347904
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054203882   ⟸   XM_054347907
- Peptide Label: isoform X11
RefSeq Acc Id: XP_054203883   ⟸   XM_054347908
- Peptide Label: isoform X12
RefSeq Acc Id: XP_054203880   ⟸   XM_054347905
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054203885   ⟸   XM_054347910
- Peptide Label: isoform X13
- UniProtKB: A0A6Q8PGH4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054203884   ⟸   XM_054347909
- Peptide Label: isoform X13
- UniProtKB: A0A6Q8PGH4 (UniProtKB/TrEMBL)
Protein Domains
B box-type

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-A8MT70-F1-model_v2 AlphaFold A8MT70 1-800 view protein structure

Promoters
RGD ID:6866204
Promoter ID:EPDNEW_H6267
Type:initiation region
Name:ZBBX_1
Description:zinc finger B-box domain containing
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383167,380,297 - 167,380,357EPDNEW
RGD ID:6801961
Promoter ID:HG_KWN:46635
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell
Transcripts:NM_024687,   UC003FEQ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 363168,580,646 - 168,581,146 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:26245 AgrOrtholog
COSMIC ZBBX COSMIC
Ensembl Genes ENSG00000169064 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000307529 ENTREZGENE
  ENST00000307529.9 UniProtKB/Swiss-Prot
  ENST00000392764 ENTREZGENE
  ENST00000392764.5 UniProtKB/Swiss-Prot
  ENST00000392766 ENTREZGENE
  ENST00000392766.6 UniProtKB/Swiss-Prot
  ENST00000392767.6 UniProtKB/Swiss-Prot
  ENST00000455345 ENTREZGENE
  ENST00000455345.7 UniProtKB/Swiss-Prot
  ENST00000464922.5 UniProtKB/TrEMBL
  ENST00000474464.5 UniProtKB/TrEMBL
  ENST00000485651.5 UniProtKB/TrEMBL
  ENST00000492642.5 UniProtKB/TrEMBL
  ENST00000494898.5 UniProtKB/TrEMBL
  ENST00000674903 ENTREZGENE
  ENST00000674903.1 UniProtKB/TrEMBL
  ENST00000675490 ENTREZGENE
  ENST00000675490.1 UniProtKB/Swiss-Prot
Gene3D-CATH 4.10.830.40 UniProtKB/TrEMBL
GTEx ENSG00000169064 GTEx
HGNC ID HGNC:26245 ENTREZGENE
Human Proteome Map ZBBX Human Proteome Map
InterPro ZBBX UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_B-box UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:79740 UniProtKB/Swiss-Prot
NCBI Gene 79740 ENTREZGENE
PANTHER PTHR28634 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZINC FINGER B-BOX DOMAIN-CONTAINING PROTEIN 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam zf-B_box UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162409400 PharmGKB
PROSITE ZF_BBOX UniProtKB/TrEMBL
UniProt A0A6Q8PGH4 ENTREZGENE, UniProtKB/TrEMBL
  A8MT70 ENTREZGENE
  A8MV69 ENTREZGENE
  B3KSC1 ENTREZGENE
  B5MDJ6 ENTREZGENE
  B7ZMD2 ENTREZGENE, UniProtKB/TrEMBL
  C9J608_HUMAN UniProtKB/TrEMBL
  C9JVV2_HUMAN UniProtKB/TrEMBL
  F2Z370 ENTREZGENE
  H7C4M7_HUMAN UniProtKB/TrEMBL
  H7C534_HUMAN UniProtKB/TrEMBL
  H7C590_HUMAN UniProtKB/TrEMBL
  Q9H5T8 ENTREZGENE
  ZBBX_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A8MV69 UniProtKB/Swiss-Prot
  B3KSC1 UniProtKB/Swiss-Prot
  B5MDJ6 UniProtKB/Swiss-Prot
  F2Z370 UniProtKB/Swiss-Prot
  Q9H5T8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-16 ZBBX  zinc finger B-box domain containing    zinc finger, B-box domain containing  Symbol and/or name change 5135510 APPROVED