GFUS (GDP-L-fucose synthase) - Rat Genome Database

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Gene: GFUS (GDP-L-fucose synthase) Homo sapiens
Analyze
Symbol: GFUS
Name: GDP-L-fucose synthase
RGD ID: 1315979
HGNC Page HGNC
Description: Exhibits GDP-L-fucose synthase activity; GDP-mannose 3,5-epimerase activity; and identical protein binding activity. Involved in nucleotide-sugar metabolic process; positive regulation of endothelial cell migration; and positive regulation of endothelial cell-matrix adhesion via fibronectin. Localizes to extracellular exosome.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 3-5 epimerase/4-reductase; FX; GDP-4-keto-6-deoxy-D-mannose epimerase-reductase; GDP-4-keto-6-deoxy-D-mannose-3,5-epimerase-4-reductase; P35B; red cell NADP(H)-binding protein; SDR4E1; short chain dehydrogenase/reductase family 4E, member 1; short-chain dehydrogenase/reductase family 4E member 1; testis tissue sperm-binding protein Li 45a; tissue specific transplantation antigen 3; tissue specific transplantation antigen P35B; Tissue-specific transplantation antigen-3; TSTA3
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
GRCh38.p13 Ensembl8143,612,618 - 143,618,048 (-)EnsemblGRCh38hg38GRCh38
GRCh388143,612,618 - 143,618,043 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378144,694,788 - 144,699,719 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368144,765,933 - 144,770,038 (-)NCBINCBI36hg18NCBI36
Build 348144,765,932 - 144,770,039NCBI
Celera8141,005,027 - 141,009,971 (-)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8139,946,059 - 139,951,003 (-)NCBIHuRef
CHM1_18144,735,027 - 144,739,971 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

References

Additional References at PubMed
PMID:1348494   PMID:7803801   PMID:8910301   PMID:9525924   PMID:11698403   PMID:12477932   PMID:14702039   PMID:15489334   PMID:16712791   PMID:17207965   PMID:18205178   PMID:19027726  
PMID:19056867   PMID:19953087   PMID:21873635   PMID:21988832   PMID:22528125   PMID:22863883   PMID:22939629   PMID:22944692   PMID:23314748   PMID:23585552   PMID:23774504   PMID:23824909  
PMID:26186194   PMID:26344197   PMID:26531722   PMID:28514442   PMID:29950151   PMID:32296183  


Genomics

Comparative Map Data
GFUS
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8143,612,618 - 143,618,048 (-)EnsemblGRCh38hg38GRCh38
GRCh388143,612,618 - 143,618,043 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378144,694,788 - 144,699,719 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368144,765,933 - 144,770,038 (-)NCBINCBI36hg18NCBI36
Build 348144,765,932 - 144,770,039NCBI
Celera8141,005,027 - 141,009,971 (-)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8139,946,059 - 139,951,003 (-)NCBIHuRef
CHM1_18144,735,027 - 144,739,971 (-)NCBICHM1_1
Gfus
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391575,796,521 - 75,801,670 (-)NCBIGRCm39mm39
GRCm39 Ensembl1575,796,525 - 75,801,681 (-)Ensembl
GRCm381575,924,669 - 75,929,821 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1575,924,676 - 75,929,832 (-)EnsemblGRCm38mm10GRCm38
MGSCv371575,755,113 - 75,760,160 (-)NCBIGRCm37mm9NCBIm37
MGSCv361575,751,938 - 75,756,985 (-)NCBImm8
Celera1577,425,699 - 77,430,746 (-)NCBICelera
Cytogenetic Map15D3NCBI
cM Map1535.1NCBI
Gfus
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.27107,612,087 - 107,617,005 (-)NCBI
Rnor_6.0 Ensembl7116,958,392 - 116,963,295 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.07116,958,427 - 116,963,281 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.07116,851,230 - 116,856,084 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47113,929,477 - 113,934,330 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.17113,963,706 - 113,967,872 (-)NCBI
Celera7103,969,092 - 103,973,946 (-)NCBICelera
Cytogenetic Map7q34NCBI
Gfus
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554542,313,172 - 2,317,829 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554542,313,172 - 2,317,829 (-)NCBIChiLan1.0ChiLan1.0
GFUS
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18143,381,054 - 143,386,008 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8143,381,054 - 143,386,008 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v08140,366,003 - 140,371,018 (-)NCBIMhudiblu_PPA_v0panPan3
GFUS
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11337,267,119 - 37,272,101 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1337,267,122 - 37,271,967 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1337,223,607 - 37,228,596 (-)NCBI
ROS_Cfam_1.01337,738,939 - 37,743,928 (-)NCBI
UMICH_Zoey_3.11337,413,207 - 37,418,196 (-)NCBI
UNSW_CanFamBas_1.01337,530,171 - 37,535,160 (-)NCBI
UU_Cfam_GSD_1.01338,011,412 - 38,016,402 (-)NCBI
Gfus
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244053031,095,968 - 1,101,356 (+)NCBI
SpeTri2.0NW_0049364708,523,240 - 8,527,451 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GFUS
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl4950,177 - 959,682 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.14950,947 - 955,865 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
GFUS
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18137,833,033 - 137,837,975 (-)NCBI
ChlSab1.1 Ensembl8137,833,317 - 137,837,943 (-)Ensembl
Gfus
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473513,129,572 - 13,134,285 (+)NCBI

Position Markers
RH17920  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378144,694,794 - 144,694,946UniSTSGRCh37
Build 368144,765,937 - 144,766,089RGDNCBI36
Celera8141,005,033 - 141,005,185RGD
Cytogenetic Map8q24.3UniSTS
HuRef8139,946,065 - 139,946,217UniSTS
G42973  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378144,694,798 - 144,694,947UniSTSGRCh37
Build 368144,765,941 - 144,766,090RGDNCBI36
Celera8141,005,037 - 141,005,186RGD
Cytogenetic Map8q24.3UniSTS
HuRef8139,946,069 - 139,946,218UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5942
Count of miRNA genes:1040
Interacting mature miRNAs:1323
Transcripts:ENST00000425753, ENST00000524719, ENST00000525274, ENST00000526290, ENST00000527006, ENST00000527549, ENST00000527677, ENST00000528920, ENST00000529048, ENST00000529064, ENST00000529899, ENST00000530474, ENST00000531006, ENST00000531473, ENST00000532308, ENST00000533817
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 4
Medium 2434 2649 1716 616 1941 457 4138 1791 3137 410 1455 1613 175 1 1204 2570 6 2
Low 5 342 10 8 10 8 219 406 597 9 1 218
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001317783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005251051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC067930 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC243411 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK096752 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001941 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC093061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF223661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG709420 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB132195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GM744697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM005668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U58766 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000425753   ⟹   ENSP00000398803
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,612,618 - 143,617,549 (-)Ensembl
RefSeq Acc Id: ENST00000524719   ⟹   ENSP00000432088
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,612,618 - 143,613,607 (-)Ensembl
RefSeq Acc Id: ENST00000525274
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,614,405 - 143,616,726 (-)Ensembl
RefSeq Acc Id: ENST00000526290   ⟹   ENSP00000433331
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,614,821 - 143,618,048 (-)Ensembl
RefSeq Acc Id: ENST00000527006   ⟹   ENSP00000435240
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,614,863 - 143,616,464 (-)Ensembl
RefSeq Acc Id: ENST00000527549
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,614,647 - 143,617,507 (-)Ensembl
RefSeq Acc Id: ENST00000527677
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,612,621 - 143,613,391 (-)Ensembl
RefSeq Acc Id: ENST00000528920
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,612,618 - 143,614,385 (-)Ensembl
RefSeq Acc Id: ENST00000529048   ⟹   ENSP00000431587
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,613,529 - 143,617,474 (-)Ensembl
RefSeq Acc Id: ENST00000529064   ⟹   ENSP00000435386
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,612,618 - 143,617,482 (-)Ensembl
RefSeq Acc Id: ENST00000529899
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,615,886 - 143,617,549 (-)Ensembl
RefSeq Acc Id: ENST00000530474   ⟹   ENSP00000436405
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,614,364 - 143,617,511 (-)Ensembl
RefSeq Acc Id: ENST00000531006
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,615,943 - 143,617,552 (-)Ensembl
RefSeq Acc Id: ENST00000531473
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,612,618 - 143,617,504 (-)Ensembl
RefSeq Acc Id: ENST00000532308
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,613,770 - 143,617,532 (-)Ensembl
RefSeq Acc Id: ENST00000533817   ⟹   ENSP00000437012
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,614,322 - 143,617,300 (-)Ensembl
RefSeq Acc Id: NM_001317783   ⟹   NP_001304712
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,612,618 - 143,617,549 (-)NCBI
CHM1_18144,735,027 - 144,739,888 (-)NCBI
Sequence:
RefSeq Acc Id: NM_003313   ⟹   NP_003304
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,612,618 - 143,617,549 (-)NCBI
GRCh378144,694,788 - 144,700,358 (-)NCBI
Build 368144,765,933 - 144,770,038 (-)NCBI Archive
Celera8141,005,027 - 141,009,971 (-)RGD
HuRef8139,946,059 - 139,951,003 (-)ENTREZGENE
CHM1_18144,735,027 - 144,739,971 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005251051   ⟹   XP_005251108
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,612,618 - 143,617,060 (-)NCBI
GRCh378144,694,788 - 144,700,358 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011517269   ⟹   XP_011515571
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,612,618 - 143,618,043 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_003304   ⟸   NM_003313
- Peptide Label: isoform 2
- UniProtKB: Q13630 (UniProtKB/Swiss-Prot),   A0A140VKC8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005251108   ⟸   XM_005251051
- Peptide Label: isoform X1
- UniProtKB: Q13630 (UniProtKB/Swiss-Prot),   A0A140VKC8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011515571   ⟸   XM_011517269
- Peptide Label: isoform X1
- UniProtKB: Q13630 (UniProtKB/Swiss-Prot),   A0A140VKC8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001304712   ⟸   NM_001317783
- Peptide Label: isoform 1
- UniProtKB: Q13630 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000398803   ⟸   ENST00000425753
RefSeq Acc Id: ENSP00000436405   ⟸   ENST00000530474
RefSeq Acc Id: ENSP00000437012   ⟸   ENST00000533817
RefSeq Acc Id: ENSP00000432088   ⟸   ENST00000524719
RefSeq Acc Id: ENSP00000433331   ⟸   ENST00000526290
RefSeq Acc Id: ENSP00000435240   ⟸   ENST00000527006
RefSeq Acc Id: ENSP00000431587   ⟸   ENST00000529048
RefSeq Acc Id: ENSP00000435386   ⟸   ENST00000529064
Protein Domains
Epimerase

Promoters
RGD ID:7214369
Promoter ID:EPDNEW_H12931
Type:initiation region
Name:TSTA3_1
Description:tissue specific transplantation antigen P35B
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
GRCh388143,617,507 - 143,617,567EPDNEW
RGD ID:6807089
Promoter ID:HG_KWN:62274
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000360125,   NM_003313,   UC003YZA.1
Position:
Human AssemblyChrPosition (strand)Source
Build 368144,770,086 - 144,771,537 (-)MPROMDB
RGD ID:6852758
Promoter ID:EP74192
Type:initiation region
Name:HS_TSTA3_2
Description:Tissue specific transplantation antigen P35B.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:alternative promoter #2 of 2; 5' exon 1; site 2; major promoter.; see alsoEP74191  
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 368144,770,808 - 144,770,868EPD
RGD ID:6852756
Promoter ID:EP74191
Type:initiation region
Name:HS_TSTA3_1
Description:Tissue specific transplantation antigen P35B.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:alternative promoter #1 of 2; 5' exon 1; site 1.; see alsoEP74192  
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 368144,770,861 - 144,770,921EPD

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3 copy number gain See cases [RCV000050830] Chr8:128220912..145049449 [GRCh38]
Chr8:129233158..146274835 [GRCh37]
Chr8:129302340..146245639 [NCBI36]
Chr8:8q24.21-24.3
pathogenic
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000053678] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:139447227-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|See cases [RCV000053701] Chr8:139447227..145054775 [GRCh38]
Chr8:140459470..146280161 [GRCh37]
Chr8:140528652..146250965 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
NM_003313.3(TSTA3):c.351C>T (p.Ile117=) single nucleotide variant Malignant melanoma [RCV000068198] Chr8:143614826 [GRCh38]
Chr8:144696996 [GRCh37]
Chr8:144768139 [NCBI36]
Chr8:8q24.3
not provided
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:142201468-144002730)x1 copy number loss See cases [RCV000135981] Chr8:142201468..144002730 [GRCh38]
Chr8:143282829..145076898 [GRCh37]
Chr8:143280736..145148886 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3 copy number gain See cases [RCV000137644] Chr8:130639182..145068712 [GRCh38]
Chr8:131651428..146294098 [GRCh37]
Chr8:131720610..146264902 [NCBI36]
Chr8:8q24.22-24.3
pathogenic|conflicting data from submitters
GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3 copy number gain See cases [RCV000137466] Chr8:139236824..145068712 [GRCh38]
Chr8:140249067..146294098 [GRCh37]
Chr8:140318249..146264902 [NCBI36]
Chr8:8q24.3
likely pathogenic
GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3 copy number gain See cases [RCV000137340] Chr8:139004218..145049449 [GRCh38]
Chr8:140016461..146274835 [GRCh37]
Chr8:140085643..146245639 [NCBI36]
Chr8:8q24.3
likely pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3 copy number gain See cases [RCV000137346] Chr8:124498498..145068712 [GRCh38]
Chr8:125510739..146294098 [GRCh37]
Chr8:125579920..146264902 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:141738068-144140607)x1 copy number loss See cases [RCV000140913] Chr8:141738068..144140607 [GRCh38]
Chr8:142764538..145195510 [GRCh37]
Chr8:142823655..145267498 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000148117] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:134825277-146280828)x3 copy number gain See cases [RCV000448348] Chr8:134825277..146280828 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:136378789-146295771)x3 copy number gain See cases [RCV000512003] Chr8:136378789..146295771 [GRCh37]
Chr8:8q24.22-24.3
likely pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:142840194-146280020) copy number gain Intellectual disability [RCV000626547] Chr8:142840194..146280020 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 copy number gain See cases [RCV000512401] Chr8:114853126..146295771 [GRCh37]
Chr8:8q23.3-24.3
pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:143815037-146295771)x3 copy number gain not provided [RCV000683020] Chr8:143815037..146295771 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3 copy number gain not provided [RCV000683044] Chr8:121694649..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144056476-144733805)x1 copy number loss not provided [RCV000747921] Chr8:144056476..144733805 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144621035-144713934)x0 copy number loss not provided [RCV000747936] Chr8:144621035..144713934 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144641370-144695499)x3 copy number gain not provided [RCV000747946] Chr8:144641370..144695499 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:143616831-144930611)x1 copy number loss not provided [RCV001006152] Chr8:143616831..144930611 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3 copy number gain not provided [RCV000849762] Chr8:122193546..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:142132678-145569441)x1 copy number loss not provided [RCV001006150] Chr8:142132678..145569441 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:136059859-146295771)x3 copy number gain not provided [RCV000847171] Chr8:136059859..146295771 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144190206-146295771)x3 copy number gain not provided [RCV000847854] Chr8:144190206..146295771 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.23-24.3(chr8:139188797-146295771)x3 copy number gain not provided [RCV000846814] Chr8:139188797..146295771 [GRCh37]
Chr8:8q24.23-24.3
pathogenic
GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3 copy number gain not provided [RCV001006146] Chr8:128877995..146295771 [GRCh37]
Chr8:8q24.21-24.3
pathogenic
GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3 copy number gain not provided [RCV000845705] Chr8:125496223..146295771 [GRCh37]
Chr8:8q24.13-24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3 copy number gain not provided [RCV001006140] Chr8:121042467..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144262042-146295771)x3 copy number gain not provided [RCV001259034] Chr8:144262042..146295771 [GRCh37]
Chr8:8q24.3
likely pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12390 AgrOrtholog
COSMIC GFUS COSMIC
Ensembl Genes ENSG00000104522 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000278243 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000398803 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000431587 UniProtKB/TrEMBL
  ENSP00000432088 UniProtKB/TrEMBL
  ENSP00000433331 UniProtKB/TrEMBL
  ENSP00000435240 UniProtKB/TrEMBL
  ENSP00000435386 UniProtKB/Swiss-Prot
  ENSP00000436405 UniProtKB/TrEMBL
  ENSP00000437012 UniProtKB/TrEMBL
  ENSP00000478042 UniProtKB/Swiss-Prot
  ENSP00000487640 UniProtKB/Swiss-Prot
  ENSP00000487853 UniProtKB/TrEMBL
  ENSP00000487980 UniProtKB/TrEMBL
  ENSP00000488203 UniProtKB/TrEMBL
  ENSP00000488379 UniProtKB/TrEMBL
  ENSP00000488496 UniProtKB/TrEMBL
  ENSP00000488614 UniProtKB/TrEMBL
Ensembl Transcript ENST00000425753 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000524719 UniProtKB/TrEMBL
  ENST00000526290 UniProtKB/TrEMBL
  ENST00000527006 UniProtKB/TrEMBL
  ENST00000529048 UniProtKB/TrEMBL
  ENST00000529064 UniProtKB/Swiss-Prot
  ENST00000530474 UniProtKB/TrEMBL
  ENST00000533817 UniProtKB/TrEMBL
  ENST00000612580 UniProtKB/Swiss-Prot
  ENST00000632250 UniProtKB/TrEMBL
  ENST00000632368 UniProtKB/TrEMBL
  ENST00000632379 UniProtKB/TrEMBL
  ENST00000633095 UniProtKB/TrEMBL
  ENST00000633165 UniProtKB/TrEMBL
  ENST00000633782 UniProtKB/Swiss-Prot
  ENST00000633885 UniProtKB/TrEMBL
GTEx ENSG00000104522 GTEx
  ENSG00000278243 GTEx
HGNC ID HGNC:12390 ENTREZGENE
Human Proteome Map GFUS Human Proteome Map
InterPro Epimerase_deHydtase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GDP_fucose/colitose_synth UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NAD(P)-bd_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:7264 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 7264 ENTREZGENE
OMIM 137020 OMIM
Pfam Epimerase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA37056 PharmGKB
Superfamily-SCOP SSF51735 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0J9YX13_HUMAN UniProtKB/TrEMBL
  A0A140VKC8 ENTREZGENE, UniProtKB/TrEMBL
  E9PKL9_HUMAN UniProtKB/TrEMBL
  E9PLH9_HUMAN UniProtKB/TrEMBL
  E9PP14_HUMAN UniProtKB/TrEMBL
  E9PP60_HUMAN UniProtKB/TrEMBL
  FCL_HUMAN UniProtKB/Swiss-Prot
  H0YCP7_HUMAN UniProtKB/TrEMBL
  H0YE90_HUMAN UniProtKB/TrEMBL
  Q13630 ENTREZGENE
UniProt Secondary B2R8Y7 UniProtKB/Swiss-Prot
  D3DWK5 UniProtKB/Swiss-Prot
  Q567Q9 UniProtKB/Swiss-Prot
  Q9UDG7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2020-05-11 GFUS  GDP-L-fucose synthase  TSTA3  tissue specific transplantation antigen P35B  Symbol and/or name change 19259463 PROVISIONAL