FETUB (fetuin B) - Rat Genome Database

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Gene: FETUB (fetuin B) Homo sapiens
Analyze
Symbol: FETUB
Name: fetuin B
RGD ID: 1348659
HGNC Page HGNC:3658
Description: Predicted to enable metalloendopeptidase inhibitor activity. Predicted to be involved in binding activity of sperm to zona pellucida. Located in extracellular exosome.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 16G2; fetuin-B; fetuin-like protein IRL685; Gugu; IRL685
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
GRCh383186,635,969 - 186,653,141 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3186,635,969 - 186,653,141 (+)EnsemblGRCh38hg38GRCh38
GRCh373186,353,758 - 186,370,930 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 363187,840,843 - 187,853,491 (+)NCBINCBI36Build 36hg18NCBI36
Build 343187,840,850 - 187,853,498NCBI
Celera3184,794,517 - 184,807,165 (+)NCBICelera
Cytogenetic Map3q27.3NCBI
HuRef3183,767,693 - 183,780,343 (+)NCBIHuRef
CHM1_13186,322,116 - 186,334,762 (+)NCBICHM1_1
T2T-CHM13v2.03189,451,683 - 189,468,852 (+)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
(+)-schisandrin B  (ISO)
1-naphthyl isothiocyanate  (EXP)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2-hydroxypropanoic acid  (EXP)
4-hydroxyphenyl retinamide  (ISO)
acetamide  (ISO)
aflatoxin B1  (EXP,ISO)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (EXP,ISO)
cadmium dichloride  (ISO)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chloroprene  (ISO)
chlorpromazine  (EXP)
cisplatin  (ISO)
clofibrate  (ISO)
cobalt dichloride  (ISO)
copper(II) chloride  (ISO)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP)
dichloroacetic acid  (ISO)
dioxygen  (ISO)
doxorubicin  (ISO)
fenthion  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
furan  (ISO)
genistein  (ISO)
isoprenaline  (ISO)
methapyrilene  (ISO)
methyltestosterone  (EXP)
N(4)-hydroxycytidine  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
naphthalene  (ISO)
nickel sulfate  (EXP)
nitrofen  (ISO)
O-methyleugenol  (EXP)
obeticholic acid  (EXP)
ozone  (ISO)
paracetamol  (EXP,ISO)
parathion  (ISO)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (EXP)
perfluorooctanoic acid  (ISO)
phenobarbital  (ISO)
pirinixic acid  (ISO)
potassium dichromate  (ISO)
rac-lactic acid  (EXP)
silicon dioxide  (EXP,ISO)
sodium arsenate  (EXP)
sodium arsenite  (EXP,ISO)
sulforaphane  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
trichloroethene  (ISO)
Triptolide  (ISO)
urethane  (EXP)
valproic acid  (EXP)
vitamin D  (ISO)
zinc atom  (ISO)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Fetuin-B, a second member of the fetuin family in mammals. Olivier E, etal., Biochem J 2000 Sep 1;350 Pt 2:589-97.
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:1284814   PMID:8889549   PMID:12477932   PMID:12943536   PMID:15280384   PMID:15489334   PMID:15499407   PMID:16335952   PMID:16797392   PMID:21873635   PMID:22703881   PMID:22739111  
PMID:23314748   PMID:23533145   PMID:24623722   PMID:25671698   PMID:27628583   PMID:28183456   PMID:28822077   PMID:29138227   PMID:29153939   PMID:29194974   PMID:29390354   PMID:29514765  
PMID:29609136   PMID:29671945   PMID:29684480   PMID:29987050   PMID:30601337   PMID:31073723   PMID:31527322   PMID:31604990   PMID:32296183   PMID:32382986   PMID:32892030   PMID:35896788  
PMID:37883127  


Genomics

Comparative Map Data
FETUB
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383186,635,969 - 186,653,141 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3186,635,969 - 186,653,141 (+)EnsemblGRCh38hg38GRCh38
GRCh373186,353,758 - 186,370,930 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 363187,840,843 - 187,853,491 (+)NCBINCBI36Build 36hg18NCBI36
Build 343187,840,850 - 187,853,498NCBI
Celera3184,794,517 - 184,807,165 (+)NCBICelera
Cytogenetic Map3q27.3NCBI
HuRef3183,767,693 - 183,780,343 (+)NCBIHuRef
CHM1_13186,322,116 - 186,334,762 (+)NCBICHM1_1
T2T-CHM13v2.03189,451,683 - 189,468,852 (+)NCBIT2T-CHM13v2.0
Fetub
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391622,737,132 - 22,758,518 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1622,737,084 - 22,758,528 (+)EnsemblGRCm39 Ensembl
GRCm381622,918,382 - 22,939,768 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1622,918,334 - 22,939,778 (+)EnsemblGRCm38mm10GRCm38
MGSCv371622,918,455 - 22,939,841 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361622,835,635 - 22,855,086 (+)NCBIMGSCv36mm8
Celera1623,478,707 - 23,499,723 (+)NCBICelera
Cytogenetic Map16B1NCBI
cM Map1613.76NCBI
Fetub
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81191,586,750 - 91,599,789 (-)NCBIGRCr8
mRatBN7.21178,082,158 - 78,093,022 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1178,082,156 - 78,095,135 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1186,832,633 - 86,843,497 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01179,490,850 - 79,501,599 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01178,546,941 - 78,557,807 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01181,648,890 - 81,660,472 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1181,648,885 - 81,660,395 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01184,745,605 - 84,758,630 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41180,276,852 - 80,285,039 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11180,334,442 - 80,342,628 (-)NCBI
Celera1176,955,006 - 76,965,868 (-)NCBICelera
Cytogenetic Map11q23NCBI
Fetub
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542021,040,621 - 21,054,391 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495542021,041,419 - 21,054,043 (-)NCBIChiLan1.0ChiLan1.0
FETUB
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22184,511,004 - 184,528,937 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan13184,515,719 - 184,533,652 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v03183,675,258 - 183,687,754 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.13192,142,595 - 192,155,297 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl3192,142,702 - 192,154,920 (+)Ensemblpanpan1.1panPan2
FETUB
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13419,259,362 - 19,273,030 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3419,259,357 - 19,273,030 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3423,344,736 - 23,358,404 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03419,170,300 - 19,183,973 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3419,170,391 - 19,213,757 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13419,202,641 - 19,216,289 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03419,202,473 - 19,216,130 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03419,430,947 - 19,444,615 (+)NCBIUU_Cfam_GSD_1.0
Fetub
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405602117,210,109 - 117,225,168 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365783,302,084 - 3,310,536 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365783,302,005 - 3,310,536 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FETUB
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl13124,460,272 - 124,494,196 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.113124,480,456 - 124,494,197 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.213133,870,414 - 133,884,133 (+)NCBISscrofa10.2Sscrofa10.2susScr3
FETUB
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1152,773,057 - 2,790,944 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl152,770,927 - 2,790,248 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606311,509,843 - 11,526,819 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Fetub
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473070,090,385 - 70,107,199 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473070,092,056 - 70,112,025 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in FETUB
33 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 3q26.33-28(chr3:182678453-188418928)x1 copy number loss See cases [RCV000051607] Chr3:182678453..188418928 [GRCh38]
Chr3:182396241..188136716 [GRCh37]
Chr3:183878935..189619410 [NCBI36]
Chr3:3q26.33-28		 pathogenic
GRCh38/hg38 3q27.2-29(chr3:185485849-198110178)x1 copy number loss See cases [RCV000051608] Chr3:185485849..198110178 [GRCh38]
Chr3:185203637..197837049 [GRCh37]
Chr3:186686331..199321446 [NCBI36]
Chr3:3q27.2-29		 pathogenic
GRCh38/hg38 3q27.2-28(chr3:186204253-192214251)x1 copy number loss See cases [RCV000051609] Chr3:186204253..192214251 [GRCh38]
Chr3:185922042..191932040 [GRCh37]
Chr3:187404736..193414734 [NCBI36]
Chr3:3q27.2-28		 pathogenic
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 3q26.32-29(chr3:178411707-198110319)x3 copy number gain See cases [RCV000051736] Chr3:178411707..198110319 [GRCh38]
Chr3:178129495..197837190 [GRCh37]
Chr3:179612189..199321587 [NCBI36]
Chr3:3q26.32-29		 pathogenic
GRCh38/hg38 3q27.2-29(chr3:185920880-198110319)x3 copy number gain See cases [RCV000051738] Chr3:185920880..198110319 [GRCh38]
Chr3:185638668..197837190 [GRCh37]
Chr3:187121362..199321587 [NCBI36]
Chr3:3q27.2-29		 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_014375.2(FETUB):c.515C>T (p.Thr172Ile) single nucleotide variant Malignant melanoma [RCV000065961] Chr3:186644841 [GRCh38]
Chr3:186362630 [GRCh37]
Chr3:187845324 [NCBI36]
Chr3:3q27.3		 not provided
NM_014375.2(FETUB):c.516C>T (p.Thr172=) single nucleotide variant Malignant melanoma [RCV000065962] Chr3:186644842 [GRCh38]
Chr3:186362631 [GRCh37]
Chr3:187845325 [NCBI36]
Chr3:3q27.3		 not provided
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 3q26.2-29(chr3:168167568-198110178)x3 copy number gain See cases [RCV000137106] Chr3:168167568..198110178 [GRCh38]
Chr3:167885356..197837049 [GRCh37]
Chr3:169368050..199321446 [NCBI36]
Chr3:3q26.2-29		 pathogenic
GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3 copy number gain See cases [RCV000138009] Chr3:176439911..198118383 [GRCh38]
Chr3:176157699..197845254 [GRCh37]
Chr3:177640393..199329651 [NCBI36]
Chr3:3q26.32-29		 pathogenic|likely benign
GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3 copy number gain See cases [RCV000138662] Chr3:176168525..198118383 [GRCh38]
Chr3:175886313..197845254 [GRCh37]
Chr3:177369007..199329651 [NCBI36]
Chr3:3q26.32-29		 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 3q27.2-27.3(chr3:184843627-187461008)x3 copy number gain See cases [RCV000139009] Chr3:184843627..187461008 [GRCh38]
Chr3:184561415..187178796 [GRCh37]
Chr3:186044109..188661490 [NCBI36]
Chr3:3q27.2-27.3		 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
GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3 copy number gain See cases [RCV000142107] Chr3:167717962..188365272 [GRCh38]
Chr3:167435750..188083060 [GRCh37]
Chr3:168918444..189565754 [NCBI36]
Chr3:3q26.1-28		 likely pathogenic
GRCh38/hg38 3q26.33-28(chr3:181138664-192512023)x1 copy number loss See cases [RCV000142019] Chr3:181138664..192512023 [GRCh38]
Chr3:180856452..192229812 [GRCh37]
Chr3:182339146..193712506 [NCBI36]
Chr3:3q26.33-28		 pathogenic
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
GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4 copy number gain See cases [RCV000240256] Chr3:142995020..192997215 [GRCh37]
Chr3:3q24-29		 pathogenic
GRCh37/hg19 3q27.3-28(chr3:186291045-191037240)x1 copy number loss See cases [RCV000240447] Chr3:186291045..191037240 [GRCh37]
Chr3:3q27.3-28		 pathogenic
NC_000003.11:g.(?_186256465)_(186980528_?)del deletion 3MC syndrome 1 [RCV000638455] Chr3:186256465..186980528 [GRCh37]
Chr3:3q27.3		 pathogenic|likely 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 3q26.33-29(chr3:181911498-197851986)x4 copy number gain See cases [RCV000446732] Chr3:181911498..197851986 [GRCh37]
Chr3:3q26.33-29		 pathogenic
GRCh37/hg19 3q27.2-27.3(chr3:185419048-186575415)x1 copy number loss See cases [RCV000448264] Chr3:185419048..186575415 [GRCh37]
Chr3:3q27.2-27.3		 pathogenic
GRCh37/hg19 3q27.1-27.3(chr3:183178932-186838042)x1 copy number loss See cases [RCV000448937] Chr3:183178932..186838042 [GRCh37]
Chr3:3q27.1-27.3		 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 3q27.1-28(chr3:184300169-188285627) copy number loss Short stature [RCV000626533] Chr3:184300169..188285627 [GRCh37]
Chr3:3q27.1-28		 pathogenic
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 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_014375.3(FETUB):c.65C>A (p.Pro22His) single nucleotide variant Inborn genetic diseases [RCV003287144] Chr3:186640525 [GRCh38]
Chr3:186358314 [GRCh37]
Chr3:3q27.3		 uncertain significance
GRCh37/hg19 3q26.33-28(chr3:182650681-191275809)x1 copy number loss not provided [RCV000682337] Chr3:182650681..191275809 [GRCh37]
Chr3:3q26.33-28		 pathogenic
GRCh37/hg19 3q27.1-29(chr3:184003967-197851986)x3 copy number gain not provided [RCV000682339] Chr3:184003967..197851986 [GRCh37]
Chr3:3q27.1-29		 pathogenic
GRCh37/hg19 3q26.33-29(chr3:182539234-197851986)x3 copy number gain not provided [RCV000682336] Chr3:182539234..197851986 [GRCh37]
Chr3:3q26.33-29		 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 3q26.31-29(chr3:173281266-197838262)x3 copy number gain not provided [RCV000742968] Chr3:173281266..197838262 [GRCh37]
Chr3:3q26.31-29		 pathogenic
GRCh37/hg19 3q27.3-28(chr3:186018854-189514047)x1 copy number loss not provided [RCV000743033] Chr3:186018854..189514047 [GRCh37]
Chr3:3q27.3-28		 pathogenic
GRCh37/hg19 3q27.3(chr3:186328121-186494422)x3 copy number gain not provided [RCV000743036] Chr3:186328121..186494422 [GRCh37]
Chr3:3q27.3		 benign
NM_014375.3(FETUB):c.543G>A (p.Glu181=) single nucleotide variant not provided [RCV000903307] Chr3:186644869 [GRCh38]
Chr3:186362658 [GRCh37]
Chr3:3q27.3		 benign
NM_014375.3(FETUB):c.627C>T (p.Tyr209=) single nucleotide variant not provided [RCV000948666] Chr3:186646280 [GRCh38]
Chr3:186364069 [GRCh37]
Chr3:3q27.3		 benign
GRCh37/hg19 3q27.2-27.3(chr3:185879162-187446035)x1 copy number loss not provided [RCV001005497] Chr3:185879162..187446035 [GRCh37]
Chr3:3q27.2-27.3		 pathogenic
NM_014375.3(FETUB):c.110A>T (p.Asn37Ile) single nucleotide variant Inborn genetic diseases [RCV003248809] Chr3:186640570 [GRCh38]
Chr3:186358359 [GRCh37]
Chr3:3q27.3		 uncertain significance
GRCh37/hg19 3q26.2-28(chr3:169617690-190593854)x3 copy number gain not provided [RCV001005487] Chr3:169617690..190593854 [GRCh37]
Chr3:3q26.2-28		 pathogenic
NM_014375.3(FETUB):c.728G>A (p.Arg243Gln) single nucleotide variant not provided [RCV000883167] Chr3:186651249 [GRCh38]
Chr3:186369038 [GRCh37]
Chr3:3q27.3		 benign
NM_014375.3(FETUB):c.48C>G (p.Cys16Trp) single nucleotide variant not provided [RCV000956161] Chr3:186640508 [GRCh38]
Chr3:186358297 [GRCh37]
Chr3:3q27.3		 benign
NM_014375.3(FETUB):c.66C>A (p.Pro22=) single nucleotide variant not provided [RCV000956162] Chr3:186640526 [GRCh38]
Chr3:186358315 [GRCh37]
Chr3:3q27.3		 benign
NM_014375.3(FETUB):c.336+8C>T single nucleotide variant not provided [RCV000956163] Chr3:186641148 [GRCh38]
Chr3:186358937 [GRCh37]
Chr3:3q27.3		 benign
NM_014375.3(FETUB):c.936T>C (p.Asp312=) single nucleotide variant not provided [RCV000956164] Chr3:186652418 [GRCh38]
Chr3:186370207 [GRCh37]
Chr3:3q27.3		 benign
NC_000003.11:g.(?_186256465)_(187009440_?)del deletion 3MC syndrome 1 [RCV001033360] Chr3:186256465..187009440 [GRCh37]
Chr3:3q27.3		 pathogenic
GRCh37/hg19 3q27.1-28(chr3:183556940-188083060) copy number loss Short stature [RCV002280742] Chr3:183556940..188083060 [GRCh37]
Chr3:3q27.1-28		 pathogenic
GRCh37/hg19 3q27.1-27.3(chr3:182877291-186830759)x1 copy number loss not provided [RCV001259730] Chr3:182877291..186830759 [GRCh37]
Chr3:3q27.1-27.3		 pathogenic
GRCh37/hg19 3q26.31-27.3(chr3:175119199-187592480)x3 copy number gain not provided [RCV001795540] Chr3:175119199..187592480 [GRCh37]
Chr3:3q26.31-27.3		 pathogenic
GRCh37/hg19 3q27.3(chr3:186149060-186599706) copy number loss not specified [RCV002053397] Chr3:186149060..186599706 [GRCh37]
Chr3:3q27.3		 uncertain significance
GRCh37/hg19 3q26.33-27.3(chr3:182189525-187212935) copy number loss not specified [RCV002053393] Chr3:182189525..187212935 [GRCh37]
Chr3:3q26.33-27.3		 pathogenic
GRCh37/hg19 3q27.1-27.3(chr3:183178932-186838042) copy number loss not specified [RCV002053395] Chr3:183178932..186838042 [GRCh37]
Chr3:3q27.1-27.3		 pathogenic
NC_000003.11:g.(?_186256485)_(187009420_?)dup duplication 3MC syndrome 1 [RCV003119728]|not provided [RCV003119729] Chr3:186256485..187009420 [GRCh37]
Chr3:3q27.3		 uncertain significance|no classifications from unflagged records
GRCh37/hg19 3q27.1-29(chr3:183498520-197851986)x3 copy number gain See cases [RCV002286344] Chr3:183498520..197851986 [GRCh37]
Chr3:3q27.1-29		 pathogenic
GRCh37/hg19 3q26.31-29(chr3:171558472-197871052)x3 copy number gain Isolated anorectal malformation [RCV002286610] Chr3:171558472..197871052 [GRCh37]
Chr3:3q26.31-29		 likely pathogenic
GRCh37/hg19 3q27.1-28(chr3:184170962-188047867)x1 copy number loss not provided [RCV002474891] Chr3:184170962..188047867 [GRCh37]
Chr3:3q27.1-28		 likely pathogenic
NM_014375.3(FETUB):c.517G>A (p.Glu173Lys) single nucleotide variant Inborn genetic diseases [RCV002992717] Chr3:186644843 [GRCh38]
Chr3:186362632 [GRCh37]
Chr3:3q27.3		 uncertain significance
NM_014375.3(FETUB):c.49G>A (p.Gly17Arg) single nucleotide variant Inborn genetic diseases [RCV002990672] Chr3:186640509 [GRCh38]
Chr3:186358298 [GRCh37]
Chr3:3q27.3		 uncertain significance
NM_014375.3(FETUB):c.871C>A (p.Pro291Thr) single nucleotide variant Inborn genetic diseases [RCV002865054] Chr3:186652353 [GRCh38]
Chr3:186370142 [GRCh37]
Chr3:3q27.3		 uncertain significance
NM_014375.3(FETUB):c.419G>A (p.Arg140His) single nucleotide variant Inborn genetic diseases [RCV002977889] Chr3:186642553 [GRCh38]
Chr3:186360342 [GRCh37]
Chr3:3q27.3		 uncertain significance
NM_014375.3(FETUB):c.227G>A (p.Gly76Asp) single nucleotide variant Inborn genetic diseases [RCV002977452] Chr3:186641031 [GRCh38]
Chr3:186358820 [GRCh37]
Chr3:3q27.3		 likely benign
NM_014375.3(FETUB):c.401C>T (p.Ala134Val) single nucleotide variant Inborn genetic diseases [RCV002787353] Chr3:186642535 [GRCh38]
Chr3:186360324 [GRCh37]
Chr3:3q27.3		 uncertain significance
NM_014375.3(FETUB):c.1112C>T (p.Pro371Leu) single nucleotide variant Inborn genetic diseases [RCV003193608] Chr3:186652594 [GRCh38]
Chr3:186370383 [GRCh37]
Chr3:3q27.3		 uncertain significance
NM_014375.3(FETUB):c.749T>C (p.Val250Ala) single nucleotide variant Inborn genetic diseases [RCV003176228] Chr3:186651270 [GRCh38]
Chr3:186369059 [GRCh37]
Chr3:3q27.3		 uncertain significance
NM_014375.3(FETUB):c.995C>T (p.Thr332Met) single nucleotide variant Inborn genetic diseases [RCV003265482] Chr3:186652477 [GRCh38]
Chr3:186370266 [GRCh37]
Chr3:3q27.3		 uncertain significance
NM_014375.3(FETUB):c.314G>A (p.Gly105Glu) single nucleotide variant Inborn genetic diseases [RCV003342824] Chr3:186641118 [GRCh38]
Chr3:186358907 [GRCh37]
Chr3:3q27.3		 uncertain significance
NM_014375.3(FETUB):c.787G>T (p.Ala263Ser) single nucleotide variant Inborn genetic diseases [RCV003376378] Chr3:186652269 [GRCh38]
Chr3:186370058 [GRCh37]
Chr3:3q27.3		 uncertain significance
NM_014375.3(FETUB):c.295A>G (p.Lys99Glu) single nucleotide variant Inborn genetic diseases [RCV003376897] Chr3:186641099 [GRCh38]
Chr3:186358888 [GRCh37]
Chr3:3q27.3		 uncertain significance
Single allele duplication not provided [RCV003448704] Chr3:176412210..197847235 [GRCh37]
Chr3:3q26.32-29		 pathogenic
NM_014375.3(FETUB):c.528G>A (p.Ala176=) single nucleotide variant not provided [RCV003434824] Chr3:186644854 [GRCh38]
Chr3:186362643 [GRCh37]
Chr3:3q27.3		 likely benign
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:2463
Count of miRNA genes:701
Interacting mature miRNAs:791
Transcripts:ENST00000265029, ENST00000382134, ENST00000382136, ENST00000420570, ENST00000431018, ENST00000435961, ENST00000450521, ENST00000488561, ENST00000539949
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
RH99138  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373186,359,906 - 186,360,070UniSTSGRCh37
Build 363187,842,600 - 187,842,764RGDNCBI36
Celera3184,796,274 - 184,796,438RGD
Cytogenetic Map3q27UniSTS
HuRef3183,769,450 - 183,769,614UniSTS
GeneMap99-GB4 RH Map3695.29UniSTS
FETUB_1912  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373186,370,082 - 186,370,921UniSTSGRCh37
Build 363187,852,776 - 187,853,615RGDNCBI36
Celera3184,806,450 - 184,807,289RGD
HuRef3183,779,628 - 183,780,467UniSTS
SHGC-33193  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373186,370,600 - 186,370,723UniSTSGRCh37
Build 363187,853,294 - 187,853,417RGDNCBI36
Celera3184,806,968 - 184,807,091RGD
Cytogenetic Map3q27UniSTS
TNG Radiation Hybrid Map346956.0UniSTS
Stanford-G3 RH Map38180.0UniSTS
GeneMap99-GB4 RH Map3699.05UniSTS
Whitehead-RH Map3854.7UniSTS
NCBI RH Map31866.2UniSTS
GeneMap99-G3 RH Map38650.0UniSTS
RH11607  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373186,370,480 - 186,370,714UniSTSGRCh37
Build 363187,853,174 - 187,853,408RGDNCBI36
Celera3184,806,848 - 184,807,082RGD
Cytogenetic Map3q27UniSTS
HuRef3183,780,026 - 183,780,260UniSTS
GeneMap99-GB4 RH Map3700.14UniSTS
NCBI RH Map31897.5UniSTS
STS-R98821  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373186,370,523 - 186,370,660UniSTSGRCh37
Build 363187,853,217 - 187,853,354RGDNCBI36
Celera3184,806,891 - 184,807,028RGD
Cytogenetic Map3q27UniSTS
HuRef3183,780,069 - 183,780,206UniSTS
GeneMap99-GB4 RH Map3699.05UniSTS
SHGC-34439  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3q27UniSTS
Stanford-G3 RH Map38167.0UniSTS
GeneMap99-GB4 RH Map3694.27UniSTS
Whitehead-RH Map3852.2UniSTS
GeneMap99-G3 RH Map38637.0UniSTS


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 adipose tissue appendage
High
Medium 351 364 351 71 27 14 13 35
Low 19 134 88 108 27 84 1215 11 51 58 398 34 24 6 653
Below cutoff 692 1425 416 88 350 16 918 629 2277 150 418 513 75 406 506

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001308077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001308079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001375587 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001375588 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001375589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001375590 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001375591 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001375592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014375 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB017551 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC068631 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF534529 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ242928 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303859 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309647 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX061638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY373820 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY373821 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC069670 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC069820 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC074734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC114616 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX115543 (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

Reference Sequences
RefSeq Acc Id: ENST00000265029   ⟹   ENSP00000265029
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3186,640,399 - 186,653,141 (+)Ensembl
RefSeq Acc Id: ENST00000382134   ⟹   ENSP00000371569
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3186,640,360 - 186,652,631 (+)Ensembl
RefSeq Acc Id: ENST00000382136   ⟹   ENSP00000371571
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3186,640,459 - 186,652,631 (+)Ensembl
RefSeq Acc Id: ENST00000420570   ⟹   ENSP00000405438
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3186,640,407 - 186,652,985 (+)Ensembl
RefSeq Acc Id: ENST00000431018   ⟹   ENSP00000396581
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3186,635,969 - 186,651,276 (+)Ensembl
RefSeq Acc Id: ENST00000435961   ⟹   ENSP00000393851
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3186,640,392 - 186,653,141 (+)Ensembl
RefSeq Acc Id: ENST00000450521   ⟹   ENSP00000404288
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3186,635,969 - 186,652,631 (+)Ensembl
RefSeq Acc Id: ENST00000488561
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3186,640,441 - 186,644,912 (+)Ensembl
RefSeq Acc Id: NM_001308077   ⟹   NP_001295006
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383186,640,399 - 186,653,141 (+)NCBI
CHM1_13186,322,116 - 186,334,762 (+)NCBI
T2T-CHM13v2.03189,456,114 - 189,468,852 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001308079   ⟹   NP_001295008
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383186,640,399 - 186,653,141 (+)NCBI
CHM1_13186,322,116 - 186,334,762 (+)NCBI
T2T-CHM13v2.03189,456,114 - 189,468,852 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001375587   ⟹   NP_001362516
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383186,635,969 - 186,653,141 (+)NCBI
T2T-CHM13v2.03189,451,683 - 189,468,852 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001375588   ⟹   NP_001362517
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383186,640,399 - 186,653,141 (+)NCBI
T2T-CHM13v2.03189,456,114 - 189,468,852 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001375589   ⟹   NP_001362518
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383186,635,969 - 186,653,141 (+)NCBI
T2T-CHM13v2.03189,451,683 - 189,468,852 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001375590   ⟹   NP_001362519
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383186,640,399 - 186,653,141 (+)NCBI
T2T-CHM13v2.03189,456,114 - 189,468,852 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001375591   ⟹   NP_001362520
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383186,640,399 - 186,653,141 (+)NCBI
T2T-CHM13v2.03189,456,114 - 189,468,852 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001375592   ⟹   NP_001362521
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383186,640,399 - 186,653,141 (+)NCBI
T2T-CHM13v2.03189,456,114 - 189,468,852 (+)NCBI
Sequence:
RefSeq Acc Id: NM_014375   ⟹   NP_055190
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383186,640,399 - 186,653,141 (+)NCBI
GRCh373186,353,758 - 186,370,797 (+)NCBI
Build 363187,840,843 - 187,853,491 (+)NCBI Archive
Celera3184,794,517 - 184,807,165 (+)RGD
HuRef3183,767,693 - 183,780,343 (+)ENTREZGENE
CHM1_13186,322,116 - 186,334,762 (+)NCBI
T2T-CHM13v2.03189,456,114 - 189,468,852 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001295006 (Get FASTA)   NCBI Sequence Viewer  
  NP_001295008 (Get FASTA)   NCBI Sequence Viewer  
  NP_001362516 (Get FASTA)   NCBI Sequence Viewer  
  NP_001362517 (Get FASTA)   NCBI Sequence Viewer  
  NP_001362518 (Get FASTA)   NCBI Sequence Viewer  
  NP_001362519 (Get FASTA)   NCBI Sequence Viewer  
  NP_001362520 (Get FASTA)   NCBI Sequence Viewer  
  NP_001362521 (Get FASTA)   NCBI Sequence Viewer  
  NP_055190 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH69670 (Get FASTA)   NCBI Sequence Viewer  
  AAH69820 (Get FASTA)   NCBI Sequence Viewer  
  AAH74734 (Get FASTA)   NCBI Sequence Viewer  
  AAI14617 (Get FASTA)   NCBI Sequence Viewer  
  AAQ10515 (Get FASTA)   NCBI Sequence Viewer  
  AAR22507 (Get FASTA)   NCBI Sequence Viewer  
  AAR22508 (Get FASTA)   NCBI Sequence Viewer  
  BAA78341 (Get FASTA)   NCBI Sequence Viewer  
  BAG37713 (Get FASTA)   NCBI Sequence Viewer  
  BAH14069 (Get FASTA)   NCBI Sequence Viewer  
  CAB62538 (Get FASTA)   NCBI Sequence Viewer  
  CAC24999 (Get FASTA)   NCBI Sequence Viewer  
  EAW78185 (Get FASTA)   NCBI Sequence Viewer  
  EAW78186 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000265029
  ENSP00000265029.3
  ENSP00000371569
  ENSP00000371569.3
  ENSP00000371571
  ENSP00000371571.3
  ENSP00000393851.1
  ENSP00000396581.1
  ENSP00000404288
  ENSP00000404288.1
  ENSP00000405438.1
GenBank Protein Q9UGM5 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_055190   ⟸   NM_014375
- Peptide Label: isoform 1 precursor
- UniProtKB: Q6GRB6 (UniProtKB/Swiss-Prot),   Q6DK58 (UniProtKB/Swiss-Prot),   Q5J876 (UniProtKB/Swiss-Prot),   Q1RMZ0 (UniProtKB/Swiss-Prot),   E9PG06 (UniProtKB/Swiss-Prot),   B2RCW6 (UniProtKB/Swiss-Prot),   Q9Y6Z0 (UniProtKB/Swiss-Prot),   Q9UGM5 (UniProtKB/Swiss-Prot),   Q5J875 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001295008   ⟸   NM_001308079
- Peptide Label: isoform 3 precursor
- UniProtKB: E9PG08 (UniProtKB/TrEMBL),   Q5J875 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001295006   ⟸   NM_001308077
- Peptide Label: isoform 2 precursor
- UniProtKB: Q5J875 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001362516   ⟸   NM_001375587
- Peptide Label: isoform 1 precursor
- UniProtKB: Q9UGM5 (UniProtKB/Swiss-Prot),   Q6GRB6 (UniProtKB/Swiss-Prot),   Q6DK58 (UniProtKB/Swiss-Prot),   Q5J876 (UniProtKB/Swiss-Prot),   Q1RMZ0 (UniProtKB/Swiss-Prot),   E9PG06 (UniProtKB/Swiss-Prot),   B2RCW6 (UniProtKB/Swiss-Prot),   Q9Y6Z0 (UniProtKB/Swiss-Prot),   Q5J875 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001362518   ⟸   NM_001375589
- Peptide Label: isoform 6
- UniProtKB: B7Z8T3 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001362517   ⟸   NM_001375588
- Peptide Label: isoform 5
RefSeq Acc Id: NP_001362520   ⟸   NM_001375591
- Peptide Label: isoform 6
- UniProtKB: B7Z8T3 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001362519   ⟸   NM_001375590
- Peptide Label: isoform 6
- UniProtKB: B7Z8T3 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001362521   ⟸   NM_001375592
- Peptide Label: isoform 6
- UniProtKB: B7Z8T3 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSP00000404288   ⟸   ENST00000450521
RefSeq Acc Id: ENSP00000396581   ⟸   ENST00000431018
RefSeq Acc Id: ENSP00000405438   ⟸   ENST00000420570
RefSeq Acc Id: ENSP00000393851   ⟸   ENST00000435961
RefSeq Acc Id: ENSP00000371571   ⟸   ENST00000382136
RefSeq Acc Id: ENSP00000371569   ⟸   ENST00000382134
RefSeq Acc Id: ENSP00000265029   ⟸   ENST00000265029
Protein Domains
Cystatin   Cystatin fetuin-B-type

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9UGM5-F1-model_v2 AlphaFold Q9UGM5 1-382 view protein structure

Promoters
RGD ID:6866534
Promoter ID:EPDNEW_H6432
Type:single initiation site
Name:FETUB_1
Description:fetuin B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6433  EPDNEW_H6434  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383186,635,969 - 186,636,029EPDNEW
RGD ID:6866536
Promoter ID:EPDNEW_H6433
Type:initiation region
Name:FETUB_2
Description:fetuin B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6432  EPDNEW_H6434  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383186,640,399 - 186,640,459EPDNEW
RGD ID:6866538
Promoter ID:EPDNEW_H6434
Type:initiation region
Name:FETUB_3
Description:fetuin B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6432  EPDNEW_H6433  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383186,640,548 - 186,640,608EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3658 AgrOrtholog
COSMIC FETUB COSMIC
Ensembl Genes ENSG00000090512 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000265029 ENTREZGENE
  ENST00000265029.8 UniProtKB/Swiss-Prot
  ENST00000382134 ENTREZGENE
  ENST00000382134.7 UniProtKB/TrEMBL
  ENST00000382136 ENTREZGENE
  ENST00000382136.3 UniProtKB/Swiss-Prot
  ENST00000420570.1 UniProtKB/TrEMBL
  ENST00000431018.5 UniProtKB/TrEMBL
  ENST00000435961.5 UniProtKB/TrEMBL
  ENST00000450521 ENTREZGENE
  ENST00000450521.5 UniProtKB/Swiss-Prot
Gene3D-CATH 3.10.450.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000090512 GTEx
HGNC ID HGNC:3658 ENTREZGENE
Human Proteome Map FETUB Human Proteome Map
InterPro Cystatin_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cystatin_Fetuin_B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cystatin_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Prot_inh_fetuin_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:26998 UniProtKB/Swiss-Prot
NCBI Gene 26998 ENTREZGENE
OMIM 605954 OMIM
PANTHER FETUIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FETUIN-B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Cystatin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28099 PharmGKB
PROSITE CYSTATIN_FETUIN_B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FETUIN_1 UniProtKB/Swiss-Prot
  FETUIN_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SM00043 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF54403 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B2RCW6 ENTREZGENE
  B7Z8T3 ENTREZGENE, UniProtKB/TrEMBL
  C9JC68_HUMAN UniProtKB/TrEMBL
  E9PG06 ENTREZGENE
  E9PG08 ENTREZGENE, UniProtKB/TrEMBL
  F8WAW1_HUMAN UniProtKB/TrEMBL
  F8WEP7_HUMAN UniProtKB/TrEMBL
  FETUB_HUMAN UniProtKB/Swiss-Prot
  Q1RMZ0 ENTREZGENE
  Q5J875 ENTREZGENE, UniProtKB/TrEMBL
  Q5J876 ENTREZGENE
  Q6DK58 ENTREZGENE
  Q6GRB6 ENTREZGENE
  Q9UGM5 ENTREZGENE
  Q9Y6Z0 ENTREZGENE
UniProt Secondary B2RCW6 UniProtKB/Swiss-Prot
  E9PG06 UniProtKB/Swiss-Prot
  Q1RMZ0 UniProtKB/Swiss-Prot
  Q5J876 UniProtKB/Swiss-Prot
  Q6DK58 UniProtKB/Swiss-Prot
  Q6GRB6 UniProtKB/Swiss-Prot
  Q9Y6Z0 UniProtKB/Swiss-Prot