TALDO1 (transaldolase 1) - Rat Genome Database

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Gene: TALDO1 (transaldolase 1) Homo sapiens
Analyze
Symbol: TALDO1
Name: transaldolase 1
RGD ID: 733188
HGNC Page HGNC:11559
Description: Enables transaldolase activity. Predicted to be involved in pentose-phosphate shunt, non-oxidative branch. Located in extracellular exosome and nucleus. Implicated in carbohydrate metabolic disorder.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: dihydroxyacetone transferase; glycerone transferase; TAL; TAL-H; TALDOR; TALH; testicular secretory protein Li 56; transaldolase
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: TALDO1P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3811747,464 - 765,012 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl11747,415 - 765,012 (+)EnsemblGRCh38hg38GRCh38
GRCh3711747,464 - 765,012 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3611737,432 - 755,024 (+)NCBINCBI36Build 36hg18NCBI36
Build 3411737,431 - 755,023NCBI
Celera11815,308 - 828,130 (+)NCBICelera
Cytogenetic Map11p15.5NCBI
HuRef11564,412 - 581,950 (+)NCBIHuRef
CHM1_111746,369 - 763,851 (+)NCBICHM1_1
T2T-CHM13v2.011798,942 - 816,524 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
17beta-hydroxy-17-methylestra-4,9,11-trien-3-one  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2-acetamidofluorene  (ISO)
3,3',5,5'-tetrabromobisphenol A  (EXP)
3-chloropropane-1,2-diol  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
acetamide  (ISO)
ADP  (ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP)
ammonium chloride  (ISO)
amphetamine  (ISO)
anthra[1,9-cd]pyrazol-6(2H)-one  (ISO)
aristolochic acid  (EXP)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
ATP  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
beta-naphthoflavone  (EXP)
bisphenol A  (EXP,ISO)
bleomycin A2  (ISO)
Brodifacoum  (ISO)
cadmium dichloride  (EXP,ISO)
captan  (ISO)
carbon nanotube  (ISO)
chloroacetaldehyde  (EXP)
cidofovir anhydrous  (EXP)
cisplatin  (EXP)
clofibrate  (ISO)
cocaine  (ISO)
copper(II) chloride  (EXP)
copper(II) sulfate  (EXP)
crocidolite asbestos  (EXP)
curcumin  (ISO)
cyclosporin A  (EXP,ISO)
D-ribofuranose 5-phosphate  (ISO)
D-xylulose 5-phosphate  (ISO)
diarsenic trioxide  (EXP)
dioxygen  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
elemental selenium  (EXP)
endosulfan  (ISO)
enzyme inhibitor  (EXP)
fenofibrate  (ISO)
fenthion  (ISO)
flutamide  (ISO)
folic acid  (ISO)
folpet  (ISO)
gentamycin  (ISO)
glutathione  (ISO)
hydralazine  (EXP)
hydroquinone  (EXP)
ibuprofen  (ISO)
ifosfamide  (EXP)
isotretinoin  (EXP)
ivermectin  (EXP)
metformin  (ISO)
methapyrilene  (EXP)
methidathion  (ISO)
microcystin RR  (EXP)
N-acetyl-L-cysteine  (ISO)
N-nitrosodiethylamine  (ISO)
NAD zwitterion  (ISO)
NAD(+)  (ISO)
NADP zwitterion  (ISO)
NADP(+)  (ISO)
nitric oxide  (ISO)
paracetamol  (ISO)
paraquat  (ISO)
parathion  (ISO)
phenobarbital  (EXP)
pirinixic acid  (ISO)
quercetin  (EXP)
resveratrol  (EXP)
ribitol  (ISO)
rotenone  (EXP,ISO)
SB 431542  (EXP)
selenium atom  (EXP)
sodium dichromate  (ISO)
sodium dodecyl sulfate  (EXP)
sulforaphane  (EXP)
T-2 toxin  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
Tributyltin oxide  (ISO)
triptonide  (ISO)
troglitazone  (ISO)
uranium atom  (EXP)
valproic acid  (EXP)
vorinostat  (EXP)
zearalenone  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. The human transaldolase gene (TALDO1) is located on chromosome 11 at p15.4-p15.5. Banki K, etal., Genomics 1997 Oct 1;45(1):233-8.
2. The pentose phosphate pathway in the endoplasmic reticulum. Bublitz C and Steavenson S, J Biol Chem. 1988 Sep 15;263(26):12849-53.
3. Exchange reactions catalyzed by group-transferring enzymes oppose the quantitation and the unravelling of the identify of the pentose pathway. Flanigan I, etal., Eur J Biochem. 1993 Apr 1;213(1):477-85.
4. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
5. KEGG: Kyoto Encyclopedia of Genes and Genomes KEGG
6. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
7. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
8. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
9. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
10. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
11. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
12. A humble hexose monophosphate pathway metabolite regulates short- and long-term control of lipogenesis. Veech RL Proc Natl Acad Sci U S A. 2003 May 13;100(10):5578-80. Epub 2003 Apr 29.
13. Transaldolase deficiency: liver cirrhosis associated with a new inborn error in the pentose phosphate pathway. Verhoeven NM, etal., Am J Hum Genet. 2001 May;68(5):1086-92. Epub 2001 Mar 27.
Additional References at PubMed
PMID:7964452   PMID:8300619   PMID:9119412   PMID:9524206   PMID:10702296   PMID:10869557   PMID:12477932   PMID:14702349   PMID:15231747   PMID:15383276   PMID:15489334   PMID:16092052  
PMID:16130169   PMID:17081983   PMID:17095351   PMID:17503352   PMID:17603756   PMID:18331807   PMID:18498245   PMID:18687684   PMID:18805652   PMID:19738201   PMID:20194725   PMID:20458337  
PMID:20600873   PMID:21044950   PMID:21062960   PMID:21319273   PMID:21630459   PMID:21873635   PMID:22510381   PMID:22863883   PMID:22939629   PMID:23315216   PMID:23376485   PMID:23533145  
PMID:23736541   PMID:24710276   PMID:24981860   PMID:24999758   PMID:25388407   PMID:25854864   PMID:25921289   PMID:26186194   PMID:26344197   PMID:26506232   PMID:26638075   PMID:26641092  
PMID:26831064   PMID:27684187   PMID:27703206   PMID:28302793   PMID:28514442   PMID:28533407   PMID:29117863   PMID:30323337   PMID:30463901   PMID:30575818   PMID:30948266   PMID:31436131  
PMID:31796584   PMID:31980649   PMID:32416067   PMID:32513696   PMID:32814053   PMID:32828637   PMID:32913203   PMID:34079125   PMID:34282517   PMID:34551306   PMID:34677006   PMID:34732716  
PMID:35008187   PMID:35032548   PMID:35271311   PMID:35446349   PMID:35509820   PMID:35545034   PMID:35562734   PMID:35831314   PMID:35833506  


Genomics

Comparative Map Data
TALDO1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3811747,464 - 765,012 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl11747,415 - 765,012 (+)EnsemblGRCh38hg38GRCh38
GRCh3711747,464 - 765,012 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3611737,432 - 755,024 (+)NCBINCBI36Build 36hg18NCBI36
Build 3411737,431 - 755,023NCBI
Celera11815,308 - 828,130 (+)NCBICelera
Cytogenetic Map11p15.5NCBI
HuRef11564,412 - 581,950 (+)NCBIHuRef
CHM1_111746,369 - 763,851 (+)NCBICHM1_1
T2T-CHM13v2.011798,942 - 816,524 (+)NCBIT2T-CHM13v2.0
Taldo1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm397140,972,073 - 140,982,889 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl7140,972,112 - 140,982,881 (+)EnsemblGRCm39 Ensembl
GRCm387141,392,160 - 141,402,976 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl7141,392,199 - 141,402,968 (+)EnsemblGRCm38mm10GRCm38
MGSCv377148,578,059 - 148,588,875 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv367141,243,531 - 141,254,288 (+)NCBIMGSCv36mm8
Celera7141,185,913 - 141,196,721 (+)NCBICelera
Cytogenetic Map7F5NCBI
Taldo1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21196,493,634 - 196,503,965 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1196,493,589 - 196,503,974 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1204,839,159 - 204,849,489 (+)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.01211,967,918 - 211,978,015 (+)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.01204,642,055 - 204,652,153 (+)NCBIRnor_WKY
Rnor_6.01214,375,555 - 214,385,886 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1214,375,515 - 214,385,885 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01221,292,669 - 221,302,999 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41201,582,856 - 201,593,187 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11201,737,566 - 201,747,896 (+)NCBI
Celera1194,127,362 - 194,137,466 (+)NCBICelera
Cytogenetic Map1q41NCBI
Taldo1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495547611,356,603 - 11,364,259 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495547611,356,601 - 11,364,573 (-)NCBIChiLan1.0ChiLan1.0
TALDO1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.111809,751 - 826,744 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl11809,751 - 826,744 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v011764,864 - 782,548 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
TALDO1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11825,764,138 - 25,772,043 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1825,436,609 - 25,444,516 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01826,372,292 - 26,380,192 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1826,372,286 - 26,380,960 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11825,881,807 - 25,889,713 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01825,526,824 - 25,534,713 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01826,139,191 - 26,147,099 (+)NCBIUU_Cfam_GSD_1.0
Taldo1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947530,997 - 540,150 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936888531,020 - 540,820 (+)EnsemblSpeTri2.0
SpeTri2.0NW_004936888531,002 - 540,194 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TALDO1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl2464,728 - 472,835 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.12464,781 - 472,836 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.22201,532 - 227,228 (-)NCBISscrofa10.2Sscrofa10.2susScr3
TALDO1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11553,475 - 569,935 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1553,458 - 573,546 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603897,616,675 - 97,643,928 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Taldo1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476621,758,821 - 21,766,027 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462476621,758,821 - 21,766,052 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TALDO1
81 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1817
Count of miRNA genes:751
Interacting mature miRNAs:872
Transcripts:ENST00000319006, ENST00000528070, ENST00000528097, ENST00000530119, ENST00000530440, ENST00000530666, ENST00000532202, ENST00000532685, ENST00000533796
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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

Markers in Region
D11S3271  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711759,967 - 760,252UniSTSGRCh37
Build 3611749,967 - 750,252RGDNCBI36
Celera11827,845 - 828,130RGD
Cytogenetic Map11p15.5-p15.4UniSTS
HuRef11576,890 - 577,175UniSTS
SHGC-132114  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711764,908 - 765,018UniSTSGRCh37
GRCh37X74,620,973 - 74,621,084UniSTSGRCh37
Build 36X74,537,698 - 74,537,809RGDNCBI36
CeleraX74,904,316 - 74,904,426RGD
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map11p15.5-p15.4UniSTS
HuRef11581,834 - 581,944UniSTS
HuRefX68,254,340 - 68,254,450UniSTS
RH36444  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711750,076 - 750,297UniSTSGRCh37
Build 3611740,076 - 740,297RGDNCBI36
Celera11817,955 - 818,176RGD
Cytogenetic Map11p15.5-p15.4UniSTS
HuRef11567,059 - 567,280UniSTS
GeneMap99-GB4 RH Map1120.53UniSTS
NCBI RH Map1110.0UniSTS
SHGC-12900  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711764,843 - 765,021UniSTSGRCh37
GRCh37X74,620,908 - 74,621,087UniSTSGRCh37
Build 36X74,537,633 - 74,537,812RGDNCBI36
CeleraX74,904,251 - 74,904,429RGD
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map11p15.5-p15.4UniSTS
HuRef11581,769 - 581,947UniSTS
HuRefX68,254,275 - 68,254,453UniSTS


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 257 5 1 260 1 1 5 6 1
Medium 2439 2705 1720 622 1688 463 4357 2170 3733 417 1455 1607 175 1 1203 2788 6 2
Low 29 1 1 3 1 27 1 1
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008160 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006755 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF058912 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF058913 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH006712 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP006621 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009680 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC010103 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC018847 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM005596 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L19437 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L27346 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U62747 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000319006   ⟹   ENSP00000321259
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11747,464 - 765,012 (+)Ensembl
RefSeq Acc Id: ENST00000528070   ⟹   ENSP00000435042
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11747,415 - 763,520 (+)Ensembl
RefSeq Acc Id: ENST00000528097   ⟹   ENSP00000437098
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11747,428 - 765,012 (+)Ensembl
RefSeq Acc Id: ENST00000530119
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11747,464 - 760,965 (+)Ensembl
RefSeq Acc Id: ENST00000530440   ⟹   ENSP00000433501
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11747,454 - 763,850 (+)Ensembl
RefSeq Acc Id: ENST00000530666
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11763,982 - 764,947 (+)Ensembl
RefSeq Acc Id: ENST00000532202
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11764,370 - 765,005 (+)Ensembl
RefSeq Acc Id: ENST00000532685
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11747,417 - 756,284 (+)Ensembl
RefSeq Acc Id: ENST00000533796
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11755,744 - 760,257 (+)Ensembl
RefSeq Acc Id: NM_006755   ⟹   NP_006746
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811747,464 - 765,012 (+)NCBI
GRCh3711747,417 - 765,024 (+)NCBI
Build 3611737,432 - 755,024 (+)NCBI Archive
HuRef11564,412 - 581,950 (+)ENTREZGENE
CHM1_111746,369 - 763,851 (+)NCBI
T2T-CHM13v2.011798,942 - 816,524 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_006746   ⟸   NM_006755
- UniProtKB: Q8WZ45 (UniProtKB/Swiss-Prot),   P37837 (UniProtKB/Swiss-Prot),   A0A140VK56 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000433501   ⟸   ENST00000530440
RefSeq Acc Id: ENSP00000435042   ⟸   ENST00000528070
RefSeq Acc Id: ENSP00000437098   ⟸   ENST00000528097
RefSeq Acc Id: ENSP00000321259   ⟸   ENST00000319006

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P37837-F1-model_v2 AlphaFold P37837 1-337 view protein structure

Promoters
RGD ID:6789424
Promoter ID:HG_KWN:11857
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:OTTHUMT00000257116,   UC001LRA.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3611737,099 - 737,599 (+)MPROMDB
RGD ID:7219207
Promoter ID:EPDNEW_H15349
Type:initiation region
Name:TALDO1_1
Description:transaldolase 1
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
GRCh3811747,464 - 747,524EPDNEW
RGD ID:6810179
Promoter ID:HG_ACW:10481
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:TALDO1.IAPR07-UNSPLICED,   TALDO1.NAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 3611753,736 - 754,487 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_006755.2(TALDO1):c.512_514del (p.Ser171del) deletion Deficiency of transaldolase [RCV000007998] Chr11:763392..763394 [GRCh38]
Chr11:763392..763394 [GRCh37]
Chr11:11p15.5
pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:196966-3377077)x3 copy number gain See cases [RCV000050947] Chr11:196966..3377077 [GRCh38]
Chr11:196966..3398307 [GRCh37]
Chr11:186966..3354883 [NCBI36]
Chr11:11p15.5-15.4
pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:196966-4435344)x3 copy number gain See cases [RCV000050927] Chr11:196966..4435344 [GRCh38]
Chr11:196966..4456574 [GRCh37]
Chr11:186966..4413150 [NCBI36]
Chr11:11p15.5-15.4
pathogenic
GRCh38/hg38 11p15.5(chr11:758848-1998025)x1 copy number loss See cases [RCV000052645] Chr11:758848..1998025 [GRCh38]
Chr11:758848..2019255 [GRCh37]
Chr11:748848..1975831 [NCBI36]
Chr11:11p15.5
pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:218365-3377077)x3 copy number gain See cases [RCV000053614] Chr11:218365..3377077 [GRCh38]
Chr11:218365..3398307 [GRCh37]
Chr11:208365..3354883 [NCBI36]
Chr11:11p15.5-15.4
pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:196966-3624139)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053592]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053592]|See cases [RCV000053592] Chr11:196966..3624139 [GRCh38]
Chr11:196966..3645369 [GRCh37]
Chr11:186966..3601945 [NCBI36]
Chr11:11p15.5-15.4
pathogenic
GRCh38/hg38 11p15.5-13(chr11:202758-31726224)x3 copy number gain See cases [RCV000053613] Chr11:202758..31726224 [GRCh38]
Chr11:202758..31747772 [GRCh37]
Chr11:192758..31704348 [NCBI36]
Chr11:11p15.5-13
pathogenic
GRCh37/hg19 11p15.5-15.4(chr11:10701-5080415)x2 copy number gain See cases [RCV001310286] Chr11:10701..5080415 [GRCh37]
Chr11:11p15.5-15.4
pathogenic
NM_006755.2(TALDO1):c.516dup (p.Ala173fs) duplication Deficiency of transaldolase [RCV000190629] Chr11:763397..763398 [GRCh38]
Chr11:763397..763398 [GRCh37]
Chr11:11p15.5
pathogenic
GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3 copy number gain See cases [RCV000133997] Chr11:446754..18904742 [GRCh38]
Chr11:446754..18926289 [GRCh37]
Chr11:436754..18882865 [NCBI36]
Chr11:11p15.5-15.1
pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3 copy number gain See cases [RCV000139987] Chr11:61793..10727969 [GRCh38]
Chr11:61793..10749516 [GRCh37]
Chr11:51793..10706092 [NCBI36]
Chr11:11p15.5-15.4
pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3 copy number gain See cases [RCV000142890] Chr11:196855..5321874 [GRCh38]
Chr11:196855..5343104 [GRCh37]
Chr11:186855..5299680 [NCBI36]
Chr11:11p15.5-15.4
pathogenic
GRCh38/hg38 11p15.5(chr11:196855-2116185)x3 copy number gain See cases [RCV000142923] Chr11:196855..2116185 [GRCh38]
Chr11:196855..2137415 [GRCh37]
Chr11:186855..2093991 [NCBI36]
Chr11:11p15.5
pathogenic
NM_006755.2(TALDO1):c.793del (p.Gln265fs) deletion Deficiency of transaldolase [RCV000150042]|not provided [RCV001850032] Chr11:763902 [GRCh38]
Chr11:763902 [GRCh37]
Chr11:11p15.5
pathogenic|not provided
GRCh37/hg19 11p15.5-15.4(chr11:193187-5291338)x3 copy number gain See cases [RCV000446036] Chr11:193187..5291338 [GRCh37]
Chr11:11p15.5-15.4
pathogenic
GRCh37/hg19 11p15.5(chr11:680365-827724)x3 copy number gain See cases [RCV000239908] Chr11:680365..827724 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_006755.2(TALDO1):c.*33C>T single nucleotide variant Deficiency of transaldolase [RCV000265768] Chr11:764878 [GRCh38]
Chr11:764878 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_006755.2(TALDO1):c.461+14C>T single nucleotide variant Deficiency of transaldolase [RCV000285169]|not provided [RCV002056244] Chr11:760267 [GRCh38]
Chr11:760267 [GRCh37]
Chr11:11p15.5
likely benign|uncertain significance
NM_006755.2(TALDO1):c.476A>G (p.Gln159Arg) single nucleotide variant Deficiency of transaldolase [RCV000371441]|not provided [RCV002056245] Chr11:763358 [GRCh38]
Chr11:763358 [GRCh37]
Chr11:11p15.5
likely benign|uncertain significance
NM_006755.2(TALDO1):c.*9T>C single nucleotide variant Deficiency of transaldolase [RCV000271720] Chr11:764854 [GRCh38]
Chr11:764854 [GRCh37]
Chr11:11p15.5
benign|likely benign
NM_006755.2(TALDO1):c.971G>A (p.Arg324Gln) single nucleotide variant Deficiency of transaldolase [RCV000307213] Chr11:764423 [GRCh38]
Chr11:764423 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_006755.2(TALDO1):c.952G>A (p.Asp318Asn) single nucleotide variant Deficiency of transaldolase [RCV000351493] Chr11:764404 [GRCh38]
Chr11:764404 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_006755.1(TALDO1):c.-30C>T single nucleotide variant Deficiency of transaldolase [RCV000401466] Chr11:747452 [GRCh38]
Chr11:747452 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_006755.2(TALDO1):c.197T>C (p.Ile66Thr) single nucleotide variant Deficiency of transaldolase [RCV000272579]|not provided [RCV002056243] Chr11:755978 [GRCh38]
Chr11:755978 [GRCh37]
Chr11:11p15.5
benign|uncertain significance
NM_006755.2(TALDO1):c.*12G>A single nucleotide variant Deficiency of transaldolase [RCV000310388] Chr11:764857 [GRCh38]
Chr11:764857 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_006755.2(TALDO1):c.801C>T (p.Asn267=) single nucleotide variant Deficiency of transaldolase [RCV000311153]|not provided [RCV000959895] Chr11:763910 [GRCh38]
Chr11:763910 [GRCh37]
Chr11:11p15.5
benign|uncertain significance
NM_006755.2(TALDO1):c.293A>T (p.Lys98Met) single nucleotide variant Deficiency of transaldolase [RCV000320657] Chr11:759021 [GRCh38]
Chr11:759021 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_006755.2(TALDO1):c.475C>G (p.Gln159Glu) single nucleotide variant Deficiency of transaldolase [RCV000342429]|not provided [RCV001859827] Chr11:763357 [GRCh38]
Chr11:763357 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_006755.2(TALDO1):c.68C>G (p.Thr23Ser) single nucleotide variant Deficiency of transaldolase [RCV000364804]|not provided [RCV001859826] Chr11:747549 [GRCh38]
Chr11:747549 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_006755.2(TALDO1):c.962A>G (p.Lys321Arg) single nucleotide variant Deficiency of transaldolase [RCV000394136]|not provided [RCV000417884] Chr11:764414 [GRCh38]
Chr11:764414 [GRCh37]
Chr11:11p15.5
benign|likely benign
NM_006755.2(TALDO1):c.726C>T (p.Gly242=) single nucleotide variant Deficiency of transaldolase [RCV000397472] Chr11:763835 [GRCh38]
Chr11:763835 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_006755.2(TALDO1):c.78C>G (p.Ala26=) single nucleotide variant Deficiency of transaldolase [RCV000265300] Chr11:747559 [GRCh38]
Chr11:747559 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_006755.2(TALDO1):c.*30C>T single nucleotide variant Deficiency of transaldolase [RCV000358124] Chr11:764875 [GRCh38]
Chr11:764875 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_006755.2(TALDO1):c.181C>G (p.Leu61Val) single nucleotide variant Deficiency of transaldolase [RCV000383278]|not provided [RCV000994535] Chr11:755962 [GRCh38]
Chr11:755962 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_006755.2(TALDO1):c.662A>G (p.Tyr221Cys) single nucleotide variant Deficiency of transaldolase [RCV000336858] Chr11:763771 [GRCh38]
Chr11:763771 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_006755.2(TALDO1):c.488A>G (p.His163Arg) single nucleotide variant Deficiency of transaldolase [RCV000279454] Chr11:763370 [GRCh38]
Chr11:763370 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_006755.1(TALDO1):c.-37T>C single nucleotide variant Deficiency of transaldolase [RCV000398992] Chr11:747445 [GRCh38]
Chr11:747445 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_006755.1(TALDO1):c.-30_-19del microsatellite Deficiency of transaldolase [RCV000363645] Chr11:747446..747457 [GRCh38]
Chr11:747446..747457 [GRCh37]
Chr11:11p15.5
likely benign
NM_006755.2(TALDO1):c.982-8_982-5del microsatellite Deficiency of transaldolase [RCV000364246] Chr11:764800..764803 [GRCh38]
Chr11:764800..764803 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_006755.2(TALDO1):c.48C>T (p.Asp16=) single nucleotide variant Deficiency of transaldolase [RCV000310145] Chr11:747529 [GRCh38]
Chr11:747529 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_006755.1(TALDO1):c.*192G>A single nucleotide variant Deficiency of transaldolase [RCV000405268] Chr11:765037 [GRCh38]
Chr11:765037 [GRCh37]
Chr11:11p15.5
likely benign
NM_006755.2(TALDO1):c.402C>T (p.Ile134=) single nucleotide variant Deficiency of transaldolase [RCV000377351] Chr11:760194 [GRCh38]
Chr11:760194 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_006755.1(TALDO1):c.-36_-34CGC[7] microsatellite Deficiency of transaldolase [RCV000313734] Chr11:747445..747446 [GRCh38]
Chr11:747445..747446 [GRCh37]
Chr11:11p15.5
uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:230615-6644927)x3 copy number gain See cases [RCV000449417] Chr11:230615..6644927 [GRCh37]
Chr11:11p15.5-15.4
pathogenic
NM_006755.2(TALDO1):c.574C>T (p.Arg192Cys) single nucleotide variant Deficiency of transaldolase [RCV000679866]|not provided [RCV000431498] Chr11:763456 [GRCh38]
Chr11:763456 [GRCh37]
Chr11:11p15.5
pathogenic|uncertain significance
NM_006755.2(TALDO1):c.586T>C (p.Trp196Arg) single nucleotide variant not provided [RCV000437516] Chr11:763468 [GRCh38]
Chr11:763468 [GRCh37]
Chr11:11p15.5
likely pathogenic
NM_006755.2(TALDO1):c.575G>A (p.Arg192His) single nucleotide variant Deficiency of transaldolase [RCV000778339]|not provided [RCV000483416] Chr11:763457 [GRCh38]
Chr11:763457 [GRCh37]
Chr11:11p15.5
pathogenic|likely pathogenic|uncertain significance
NM_006755.2(TALDO1):c.713T>C (p.Phe238Ser) single nucleotide variant not provided [RCV000486804] Chr11:763822 [GRCh38]
Chr11:763822 [GRCh37]
Chr11:11p15.5
uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3 copy number gain See cases [RCV000511561] Chr11:230615..37698540 [GRCh37]
Chr11:11p15.5-12
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
NM_006755.2(TALDO1):c.328A>G (p.Arg110Gly) single nucleotide variant Cataract [RCV000626899]|not provided [RCV001860479] Chr11:759056 [GRCh38]
Chr11:759056 [GRCh37]
Chr11:11p15.5
uncertain significance
GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3 copy number gain See cases [RCV000512225] Chr11:230615..25584362 [GRCh37]
Chr11:11p15.5-14.3
pathogenic
GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3 copy number gain See cases [RCV000512477] Chr11:230615..31995219 [GRCh37]
Chr11:11p15.5-13
pathogenic
GRCh37/hg19 11p15.5-15.4(chr11:230615-9704511)x3 copy number gain not provided [RCV000683369] Chr11:230615..9704511 [GRCh37]
Chr11:11p15.5-15.4
pathogenic
GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3 copy number gain not provided [RCV000683372] Chr11:230615..17099213 [GRCh37]
Chr11:11p15.5-15.1
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5(chr11:381754-821676)x3 copy number gain not provided [RCV000749876] Chr11:381754..821676 [GRCh37]
Chr11:11p15.5
benign
GRCh37/hg19 11p15.5(chr11:556531-927020)x3 copy number gain not provided [RCV000749890] Chr11:556531..927020 [GRCh37]
Chr11:11p15.5
benign
NM_006755.2(TALDO1):c.930C>T (p.Asp310=) single nucleotide variant Deficiency of transaldolase [RCV001111483]|not provided [RCV000905648] Chr11:764382 [GRCh38]
Chr11:764382 [GRCh37]
Chr11:11p15.5
likely benign|uncertain significance
NM_006755.2(TALDO1):c.66C>T (p.Thr22=) single nucleotide variant not provided [RCV000920074] Chr11:747547 [GRCh38]
Chr11:747547 [GRCh37]
Chr11:11p15.5
likely benign
NM_006755.2(TALDO1):c.327A>T (p.Ala109=) single nucleotide variant not provided [RCV000922363] Chr11:759055 [GRCh38]
Chr11:759055 [GRCh37]
Chr11:11p15.5
likely benign
NM_006755.2(TALDO1):c.897C>T (p.Asn299=) single nucleotide variant not provided [RCV000902181] Chr11:764349 [GRCh38]
Chr11:764349 [GRCh37]
Chr11:11p15.5
likely benign
NM_006755.2(TALDO1):c.427C>T (p.Leu143=) single nucleotide variant not provided [RCV000880630] Chr11:760219 [GRCh38]
Chr11:760219 [GRCh37]
Chr11:11p15.5
likely benign
NC_000011.9:g.(?_612625)_(2193840_?)dup duplication Immunodeficiency 39 [RCV001033372] Chr11:612625..2193840 [GRCh37]
Chr11:11p15.5
uncertain significance
GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136) copy number gain Silver-Russell syndrome 1 [RCV000767567] Chr11:193146..12643136 [GRCh37]
Chr11:11p15.5-15.3
pathogenic
NM_006755.2(TALDO1):c.831G>A (p.Lys277=) single nucleotide variant not provided [RCV000919456] Chr11:763940 [GRCh38]
Chr11:763940 [GRCh37]
Chr11:11p15.5
likely benign
NM_006755.2(TALDO1):c.931G>T (p.Gly311Trp) single nucleotide variant Deficiency of transaldolase [RCV000767871] Chr11:764383 [GRCh38]
Chr11:764383 [GRCh37]
Chr11:11p15.5
pathogenic
NM_006755.2(TALDO1):c.356T>C (p.Val119Ala) single nucleotide variant Deficiency of transaldolase [RCV001114772] Chr11:760148 [GRCh38]
Chr11:760148 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_006755.2(TALDO1):c.409G>T (p.Asp137Tyr) single nucleotide variant Deficiency of transaldolase [RCV000845092] Chr11:760201 [GRCh38]
Chr11:760201 [GRCh37]
Chr11:11p15.5
not provided
GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3 copy number gain not provided [RCV001006372] Chr11:235934..33826995 [GRCh37]
Chr11:11p15.5-13
pathogenic
NM_006755.2(TALDO1):c.699C>G (p.Val233=) single nucleotide variant Deficiency of transaldolase [RCV001171519] Chr11:763808 [GRCh38]
Chr11:763808 [GRCh37]
Chr11:11p15.5
pathogenic
GRCh37/hg19 11p15.5(chr11:733608-986824)x3 copy number gain not provided [RCV000846573] Chr11:733608..986824 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_006755.2(TALDO1):c.604G>A (p.Asp202Asn) single nucleotide variant Deficiency of transaldolase [RCV000984949]|not provided [RCV001869326] Chr11:763486 [GRCh38]
Chr11:763486 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_006755.2(TALDO1):c.715C>G (p.Arg239Gly) single nucleotide variant Deficiency of transaldolase [RCV001250884] Chr11:763824 [GRCh38]
Chr11:763824 [GRCh37]
Chr11:11p15.5
pathogenic
NM_006755.2(TALDO1):c.480C>T (p.His160=) single nucleotide variant Deficiency of transaldolase [RCV001109143] Chr11:763362 [GRCh38]
Chr11:763362 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_006755.2(TALDO1):c.36G>A (p.Glu12=) single nucleotide variant Deficiency of transaldolase [RCV001114557]|not provided [RCV000923980] Chr11:747517 [GRCh38]
Chr11:747517 [GRCh37]
Chr11:11p15.5
benign|uncertain significance
NM_006755.2(TALDO1):c.462-4G>A single nucleotide variant Deficiency of transaldolase [RCV001114773] Chr11:763340 [GRCh38]
Chr11:763340 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_006755.2(TALDO1):c.55A>C (p.Lys19Gln) single nucleotide variant not provided [RCV000911495] Chr11:747536 [GRCh38]
Chr11:747536 [GRCh37]
Chr11:11p15.5
likely benign
NM_006755.2(TALDO1):c.222-144C>T single nucleotide variant not provided [RCV001596007] Chr11:758806 [GRCh38]
Chr11:758806 [GRCh37]
Chr11:11p15.5
benign
NM_006755.2(TALDO1):c.956C>T (p.Ala319Val) single nucleotide variant Deficiency of transaldolase [RCV001111484] Chr11:764408 [GRCh38]
Chr11:764408 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_006755.2(TALDO1):c.706G>A (p.Ala236Thr) single nucleotide variant Deficiency of transaldolase [RCV001109144]|not provided [RCV001856457] Chr11:763815 [GRCh38]
Chr11:763815 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_006755.2(TALDO1):c.784G>C (p.Glu262Gln) single nucleotide variant Deficiency of transaldolase [RCV001109145] Chr11:763893 [GRCh38]
Chr11:763893 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_006755.2(TALDO1):c.669C>G (p.Tyr223Ter) single nucleotide variant Deficiency of transaldolase [RCV001171519] Chr11:763778 [GRCh38]
Chr11:763778 [GRCh37]
Chr11:11p15.5
pathogenic
NC_000011.9:g.(?_532616)_(2906985_?)dup duplication Neuronal ceroid lipofuscinosis [RCV001032557] Chr11:532616..2906985 [GRCh37]
Chr11:11p15.5-15.4
uncertain significance
NM_006755.2(TALDO1):c.462-29_462-15del microsatellite not provided [RCV001708500] Chr11:763300..763314 [GRCh38]
Chr11:763300..763314 [GRCh37]
Chr11:11p15.5
benign
NC_000011.10:g.(?_532616)_(795026_?)dup duplication Early infantile epileptic encephalopathy with suppression bursts [RCV001031133] Chr11:532616..795026 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_006755.2(TALDO1):c.-6C>T single nucleotide variant Deficiency of transaldolase [RCV001113187] Chr11:747476 [GRCh38]
Chr11:747476 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_006755.2(TALDO1):c.884G>A (p.Arg295His) single nucleotide variant Deficiency of transaldolase [RCV001250101] Chr11:764336 [GRCh38]
Chr11:764336 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_006755.2(TALDO1):c.750dup (p.Asp251Ter) duplication not provided [RCV001008050] Chr11:763858..763859 [GRCh38]
Chr11:763858..763859 [GRCh37]
Chr11:11p15.5
likely pathogenic
GRCh37/hg19 11p15.5(chr11:230615-1150353)x3 copy number gain not provided [RCV001259592] Chr11:230615..1150353 [GRCh37]
Chr11:11p15.5
uncertain significance
Single allele single nucleotide variant not provided [RCV001641660] Chr11:765066 [GRCh38]
Chr11:765066 [GRCh37]
Chr11:11p15.5
benign
GRCh37/hg19 11p15.5-15.4(chr11:210300-8664358)x3 copy number gain Silver-Russell syndrome 1 [RCV001263222] Chr11:210300..8664358 [GRCh37]
Chr11:11p15.5-15.4
pathogenic
GRCh37/hg19 11p15.5-15.4(chr11:230615-4851537)x3 copy number gain See cases [RCV001263059] Chr11:230615..4851537 [GRCh37]
Chr11:11p15.5-15.4
pathogenic
NC_000011.9:g.(?_612625)_(2193840_?)dup duplication Autosomal recessive DOPA responsive dystonia [RCV001301561]|Immunodeficiency 39 [RCV001033372] Chr11:612625..2193840 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_006755.2(TALDO1):c.888G>A (p.Trp296Ter) single nucleotide variant Deficiency of transaldolase [RCV001329616] Chr11:764340 [GRCh38]
Chr11:764340 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_006755.2(TALDO1):c.836-1G>A single nucleotide variant Deficiency of transaldolase [RCV001336999] Chr11:764287 [GRCh38]
Chr11:764287 [GRCh37]
Chr11:11p15.5
pathogenic
NM_006755.2(TALDO1):c.982G>A (p.Glu328Lys) single nucleotide variant Deficiency of transaldolase [RCV001329617] Chr11:764813 [GRCh38]
Chr11:764813 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_006755.2(TALDO1):c.330-10_330delinsAGA indel Deficiency of transaldolase [RCV001336998] Chr11:760112..760122 [GRCh38]
Chr11:760112..760122 [GRCh37]
Chr11:11p15.5
uncertain significance
NC_000011.9:g.(?_298501)_(4113028_?)dup duplication Early infantile epileptic encephalopathy with suppression bursts [RCV001316682] Chr11:298501..4113028 [GRCh37]
Chr11:11p15.5-15.4
uncertain significance
NC_000011.9:g.(?_678674)_(838192_?)dup duplication not provided [RCV001982636] Chr11:678674..838192 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_006755.2(TALDO1):c.542C>T (p.Ala181Val) single nucleotide variant not provided [RCV001950740] Chr11:763424 [GRCh38]
Chr11:763424 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_006755.2(TALDO1):c.494A>G (p.Asn165Ser) single nucleotide variant not provided [RCV001971792] Chr11:763376 [GRCh38]
Chr11:763376 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_006755.2(TALDO1):c.938G>A (p.Arg313His) single nucleotide variant not provided [RCV001893800] Chr11:764390 [GRCh38]
Chr11:764390 [GRCh37]
Chr11:11p15.5
uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:230615-5525355)x3 copy number gain not provided [RCV001825269] Chr11:230615..5525355 [GRCh37]
Chr11:11p15.5-15.4
not provided
NM_006755.2(TALDO1):c.871G>A (p.Glu291Lys) single nucleotide variant not provided [RCV001915252] Chr11:764323 [GRCh38]
Chr11:764323 [GRCh37]
Chr11:11p15.5
uncertain significance
GRCh37/hg19 11p15.5(chr11:648556-1021236)x3 copy number gain not provided [RCV001834449] Chr11:648556..1021236 [GRCh37]
Chr11:11p15.5
uncertain significance
NC_000011.9:g.(?_747482)_(747598_?)del deletion not provided [RCV002004955] Chr11:747482..747598 [GRCh37]
Chr11:11p15.5
pathogenic
NM_006755.2(TALDO1):c.562C>A (p.Pro188Thr) single nucleotide variant not provided [RCV001871531] Chr11:763444 [GRCh38]
Chr11:763444 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_006755.2(TALDO1):c.477G>C (p.Gln159His) single nucleotide variant not provided [RCV001949016] Chr11:763359 [GRCh38]
Chr11:763359 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_006755.2(TALDO1):c.409G>A (p.Asp137Asn) single nucleotide variant not provided [RCV001965497] Chr11:760201 [GRCh38]
Chr11:760201 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_006755.2(TALDO1):c.330-10_330-3del deletion not provided [RCV001943974] Chr11:760112..760119 [GRCh38]
Chr11:760112..760119 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_006755.2(TALDO1):c.330G>A (p.Arg110=) single nucleotide variant not provided [RCV001943975] Chr11:760122 [GRCh38]
Chr11:760122 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_006755.2(TALDO1):c.314C>T (p.Thr105Ile) single nucleotide variant not provided [RCV001995553] Chr11:759042 [GRCh38]
Chr11:759042 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_006755.2(TALDO1):c.683G>A (p.Ser228Asn) single nucleotide variant not provided [RCV001958418] Chr11:763792 [GRCh38]
Chr11:763792 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_006755.2(TALDO1):c.457G>A (p.Gly153Arg) single nucleotide variant not provided [RCV001899284] Chr11:760249 [GRCh38]
Chr11:760249 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_006755.2(TALDO1):c.61T>C (p.Phe21Leu) single nucleotide variant not provided [RCV001990817] Chr11:747542 [GRCh38]
Chr11:747542 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_006755.2(TALDO1):c.469G>A (p.Glu157Lys) single nucleotide variant not provided [RCV001981459] Chr11:763351 [GRCh38]
Chr11:763351 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_006755.2(TALDO1):c.400A>G (p.Ile134Val) single nucleotide variant not provided [RCV002046485] Chr11:760192 [GRCh38]
Chr11:760192 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_006755.2(TALDO1):c.749G>A (p.Cys250Tyr) single nucleotide variant not provided [RCV001973327] Chr11:763858 [GRCh38]
Chr11:763858 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_006755.2(TALDO1):c.97+17G>T single nucleotide variant not provided [RCV002168839] Chr11:747595 [GRCh38]
Chr11:747595 [GRCh37]
Chr11:11p15.5
likely benign
NM_006755.2(TALDO1):c.461+18A>C single nucleotide variant not provided [RCV002086341] Chr11:760271 [GRCh38]
Chr11:760271 [GRCh37]
Chr11:11p15.5
likely benign
NM_006755.2(TALDO1):c.375C>T (p.Leu125=) single nucleotide variant not provided [RCV002088296] Chr11:760167 [GRCh38]
Chr11:760167 [GRCh37]
Chr11:11p15.5
likely benign
NM_006755.2(TALDO1):c.462-16T>C single nucleotide variant not provided [RCV002156180] Chr11:763328 [GRCh38]
Chr11:763328 [GRCh37]
Chr11:11p15.5
likely benign
NM_006755.2(TALDO1):c.347A>T (p.Asp116Val) single nucleotide variant not provided [RCV002136864] Chr11:760139 [GRCh38]
Chr11:760139 [GRCh37]
Chr11:11p15.5
benign
NM_006755.2(TALDO1):c.835+7C>A single nucleotide variant not provided [RCV002161202] Chr11:763951 [GRCh38]
Chr11:763951 [GRCh37]
Chr11:11p15.5
likely benign
NM_006755.2(TALDO1):c.462-21_462-6del deletion not provided [RCV002155979] Chr11:763315..763330 [GRCh38]
Chr11:763315..763330 [GRCh37]
Chr11:11p15.5
benign
NM_006755.2(TALDO1):c.153C>T (p.Ala51=) single nucleotide variant not provided [RCV002120559] Chr11:755934 [GRCh38]
Chr11:755934 [GRCh37]
Chr11:11p15.5
likely benign
NM_006755.2(TALDO1):c.98-17G>T single nucleotide variant not provided [RCV002201736] Chr11:755862 [GRCh38]
Chr11:755862 [GRCh37]
Chr11:11p15.5
likely benign
NM_006755.2(TALDO1):c.573G>A (p.Gly191=) single nucleotide variant not provided [RCV002084457] Chr11:763455 [GRCh38]
Chr11:763455 [GRCh37]
Chr11:11p15.5
likely benign
NM_006755.2(TALDO1):c.138G>A (p.Pro46=) single nucleotide variant not provided [RCV002202649] Chr11:755919 [GRCh38]
Chr11:755919 [GRCh37]
Chr11:11p15.5
likely benign
NM_006755.2(TALDO1):c.638-5T>C single nucleotide variant not provided [RCV002182713] Chr11:763742 [GRCh38]
Chr11:763742 [GRCh37]
Chr11:11p15.5
likely benign
NM_006755.2(TALDO1):c.1A>G (p.Met1Val) single nucleotide variant See cases [RCV002252569] Chr11:747482 [GRCh38]
Chr11:747482 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_006755.2(TALDO1):c.413G>A (p.Arg138Gln) single nucleotide variant not provided [RCV002261915] Chr11:760205 [GRCh38]
Chr11:760205 [GRCh37]
Chr11:11p15.5
uncertain significance
NC_000011.10:g.(499700_4999400)_(5279346_5279697)del deletion Thalassemia, gamma-delta-beta [RCV000015529] Chr11:4999400..5279346 [GRCh38]
Chr11:11p15.5-15.4
pathogenic
GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3 copy number gain See cases [RCV002286351] Chr11:230615..26881146 [GRCh37]
Chr11:11p15.5-14.2
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11559 AgrOrtholog
COSMIC TALDO1 COSMIC
Ensembl Genes ENSG00000177156 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000321259 ENTREZGENE
  ENSP00000321259.3 UniProtKB/Swiss-Prot
  ENSP00000433501.1 UniProtKB/TrEMBL
  ENSP00000435042.1 UniProtKB/TrEMBL
  ENSP00000437098.1 UniProtKB/TrEMBL
Ensembl Transcript ENST00000319006 ENTREZGENE
  ENST00000319006.8 UniProtKB/Swiss-Prot
  ENST00000528070.5 UniProtKB/TrEMBL
  ENST00000528097.5 UniProtKB/TrEMBL
  ENST00000530440.1 UniProtKB/TrEMBL
Gene3D-CATH 3.20.20.70 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000177156 GTEx
HGNC ID HGNC:11559 ENTREZGENE
Human Proteome Map TALDO1 Human Proteome Map
InterPro Aldolase_TIM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TAL/FSA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Transaldolase_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Transaldolase_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6888 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 6888 ENTREZGENE
OMIM 602063 OMIM
  606003 OMIM
PANTHER PTHR10683 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10683:SF18 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam TAL_FSA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA36328 PharmGKB
PROSITE TRANSALDOLASE_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRANSALDOLASE_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs talAB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A140VK56 ENTREZGENE, UniProtKB/TrEMBL
  B4DID5_HUMAN UniProtKB/TrEMBL
  E9PKI8_HUMAN UniProtKB/TrEMBL
  E9PM01_HUMAN UniProtKB/TrEMBL
  F2Z393_HUMAN UniProtKB/TrEMBL
  P37837 ENTREZGENE
  Q8WZ45 ENTREZGENE
  TALDO_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B2R8M2 UniProtKB/Swiss-Prot
  O00751 UniProtKB/Swiss-Prot
  Q8WV32 UniProtKB/Swiss-Prot
  Q8WZ45 UniProtKB/Swiss-Prot