PDX1 (pancreatic and duodenal homeobox 1) - Rat Genome Database

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Gene: PDX1 (pancreatic and duodenal homeobox 1) Homo sapiens
Analyze
Symbol: PDX1
Name: pancreatic and duodenal homeobox 1
RGD ID: 736367
HGNC Page HGNC:6107
Description: Enables DNA-binding transcription factor activity and sequence-specific double-stranded DNA binding activity. Involved in positive regulation of transcription by RNA polymerase II and type B pancreatic cell differentiation. Located in nucleoplasm. Implicated in cerebral infarction; hyperglycemia; maturity-onset diabetes of the young type 4; pancreatic agenesis; and type 2 diabetes mellitus. Biomarker of obesity and type 2 diabetes mellitus.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: glucose-sensitive factor; GSF; IDX-1; insulin promoter factor 1, homeodomain transcription factor; insulin upstream factor 1; IPF-1; IPF1; islet/duodenum homeobox-1; IUF-1; IUF1; MODY4; PAGEN1; pancreas/duodenum homeobox protein 1; pancreatic and duodenal homeobox gene 1; pancreatic-duodenal homeobox factor 1; PDX-1; somatostatin transcription factor 1; somatostatin-transactivating factor 1; STF-1
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
Candidate Gene For: BW509_H BW511_H GLUCO113_H
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381327,920,000 - 27,926,313 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1327,920,000 - 27,926,313 (+)EnsemblGRCh38hg38GRCh38
GRCh371328,494,137 - 28,500,450 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361327,392,157 - 27,397,394 (+)NCBINCBI36Build 36hg18NCBI36
Build 341327,392,176 - 27,397,394NCBI
Celera139,568,879 - 9,575,162 (+)NCBICelera
Cytogenetic Map13q12.2NCBI
HuRef139,314,253 - 9,320,535 (+)NCBIHuRef
CHM1_11328,462,445 - 28,468,728 (+)NCBICHM1_1
T2T-CHM13v2.01327,141,129 - 27,147,442 (+)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-estradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
3-aminobenzamide  (ISO)
4-phenylbutyric acid  (ISO)
5-fluorouracil  (ISO)
6-chloro-2,3,4,9-tetrahydro-1H-carbazole-1-carboxamide  (EXP)
9-cis-retinoic acid  (ISO)
acetic acid  (ISO)
acrylamide  (ISO)
aldehydo-D-glucose  (EXP,ISO)
all-trans-retinoic acid  (ISO)
all-trans-retinol  (ISO)
alloxan  (ISO)
amiloride  (EXP)
arsane  (ISO)
arsenic atom  (ISO)
arsenite(3-)  (EXP)
benzene  (ISO)
benzo[a]pyrene  (EXP)
bezafibrate  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
boric acid  (ISO)
bromochloroacetic acid  (ISO)
calyculin a  (EXP,ISO)
cannabidiol  (ISO)
capsaicin  (ISO)
choline  (ISO)
cordycepin  (ISO)
cytochalasin D  (EXP)
D-glucose  (EXP,ISO)
dexamethasone  (ISO)
diazoxide  (ISO)
diethylstilbestrol  (ISO)
disodium selenite  (ISO)
ebselen  (ISO)
flavonoids  (ISO)
folic acid  (ISO)
fonofos  (EXP)
fructose  (ISO)
fulvestrant  (EXP)
furan  (ISO)
gallic acid  (ISO)
Geniposide  (ISO)
Ginsenoside Rh4  (ISO)
glucose  (EXP,ISO)
harmine  (EXP)
hexadecanoic acid  (EXP,ISO)
hydrogen peroxide  (ISO)
L-methionine  (ISO)
LY294002  (EXP)
Magnolol  (ISO)
metformin  (ISO)
methylglyoxal  (ISO)
mono(2-ethylhexyl) phthalate  (EXP)
Monobutylphthalate  (EXP)
Nonylphenol  (ISO)
okadaic acid  (EXP,ISO)
paracetamol  (ISO)
parathion  (EXP)
perfluorodecanoic acid  (ISO)
perfluorononanoic acid  (ISO)
perfluorooctanoic acid  (ISO)
potassium dichromate  (ISO)
quercetin  (ISO)
reactive oxygen species  (ISO)
resveratrol  (EXP,ISO)
SB 203580  (EXP,ISO)
selenic acid  (ISO)
sodium arsenite  (EXP,ISO)
streptozocin  (ISO)
terbufos  (EXP)
tributylstannane  (ISO)
wortmannin  (EXP,ISO)
zinc atom  (ISO)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
animal organ morphogenesis  (TAS)
animal organ regeneration  (IEA,ISO)
cell differentiation  (IEA,ISO)
cell population proliferation  (IEA,ISO)
digestive tract development  (IEA,ISO)
DNA-templated transcription  (IEA,ISO)
endocrine pancreas development  (IEA,ISO)
enteroendocrine cell differentiation  (IEA,ISO)
epithelial cell proliferation  (IEA,ISO)
exocrine pancreas development  (IEA,ISO)
generation of precursor metabolites and energy  (TAS)
glucose homeostasis  (IEA,ISO)
glucose mediated signaling pathway  (IEA,ISS)
glucose metabolic process  (IEA,ISO)
insulin secretion  (IDA)
intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress  (IEA,ISO)
liver development  (IEA,ISO)
morphogenesis of embryonic epithelium  (IEA,ISO)
negative regulation of cell population proliferation  (IEA,ISO)
negative regulation of DNA-templated transcription  (IEA,ISO)
negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway  (IEA,ISO)
negative regulation of epithelial cell proliferation  (IEA,ISO)
negative regulation of transcription by RNA polymerase II  (IEA,ISO)
negative regulation of type B pancreatic cell apoptotic process  (IEA,ISO)
pancreas development  (IEA,ISO)
positive regulation of cell population proliferation  (IEA,ISO)
positive regulation of DNA binding  (ISO)
positive regulation of DNA-templated transcription  (IEA,ISO)
positive regulation of insulin secretion  (IEA,ISO,ISS)
positive regulation of insulin secretion involved in cellular response to glucose stimulus  (IEA,ISO)
positive regulation of response to biotic stimulus  (ISO)
positive regulation of transcription by RNA polymerase II  (IDA,IEA,ISO,ISS)
positive regulation of type B pancreatic cell proliferation  (IEA,ISO)
regulation of cell population proliferation  (IEA,ISO)
regulation of DNA-templated transcription  (IEA)
regulation of gene expression  (IEA)
regulation of transcription by RNA polymerase II  (IBA,IEA,ISO)
response to alkaloid  (IEA,ISO)
response to chlorate  (IEA,ISO)
response to cytokine  (IEA,ISO)
response to fatty acid  (IEA,ISO)
response to glucocorticoid  (IEA,ISO)
response to glucose  (IEA,ISO)
response to iron(II) ion  (IEA,ISO)
response to L-leucine  (IEA,ISO)
response to lipid  (IEA,ISO)
response to nicotine  (IEA,ISO)
response to nutrient levels  (IEA,ISO)
response to organic cyclic compound  (IEA,ISO)
response to vitamin  (IEA,ISO)
response to xenobiotic stimulus  (IEA,ISO)
smoothened signaling pathway  (IEA,ISO)
stem cell differentiation  (IEA,ISO)
transcription by RNA polymerase II  (IEA,ISO,TAS)
transdifferentiation  (IEA,ISO)
type B pancreatic cell apoptotic process  (IEA,ISO)
type B pancreatic cell differentiation  (IBA,IDA,IEA,ISO,ISS)
type B pancreatic cell proliferation  (IEA,ISO)

Cellular Component
chromatin  (ISA)
cytoplasm  (IEA)
cytosol  (IEA)
nuclear speck  (IEA)
nucleoplasm  (IDA)
nucleus  (IBA,IEA)

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

Human Phenotype
Abnormal circulating C-peptide concentration  (IAGP)
Abnormal circulating insulin concentration  (IAGP)
Abnormal heart morphology  (IAGP)
Abnormal oral glucose tolerance  (IAGP)
Abnormality of the genitourinary system  (IAGP)
Abnormality of the kidney  (IAGP)
Abnormality of the upper urinary tract  (IAGP)
Acanthosis nigricans  (IAGP)
Apraxia  (IAGP)
Arthrogryposis multiplex congenita  (IAGP)
Ataxia  (IAGP)
Autoimmune antibody positivity  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bilateral ptosis  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Coma  (IAGP)
Congenital onset  (IAGP)
Dehydration  (IAGP)
Diabetic ketoacidosis  (IAGP)
Downturned corners of mouth  (IAGP)
Elevated hemoglobin A1c  (IAGP)
Exocrine pancreatic insufficiency  (IAGP)
Failure to thrive  (IAGP)
Fetal onset  (IAGP)
Generalized myoclonic seizure  (IAGP)
Global developmental delay  (IAGP)
Glucose intolerance  (IAGP)
Glycosuria  (IAGP)
Hearing impairment  (IAGP)
Hepatocellular adenoma  (IAGP)
Hyperglycemia  (IAGP)
Hyperinsulinemic hypoglycemia  (IAGP)
Hypoinsulinemia  (IAGP)
Hypotonia  (IAGP)
Hypovolemia  (IAGP)
Increased waist to hip ratio  (IAGP)
Insulin resistance  (IAGP)
Insulin-resistant diabetes mellitus  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, severe  (IAGP)
Intrauterine growth retardation  (IAGP)
Ketonuria  (IAGP)
Large for gestational age  (IAGP)
Late onset  (IAGP)
Lower-limb joint contracture  (IAGP)
Maturity-onset diabetes of the young  (IAGP)
Moderate albuminuria  (IAGP)
Motor delay  (IAGP)
Neonatal hypoglycemia  (IAGP)
Neonatal insulin-dependent diabetes mellitus  (IAGP)
Nephropathy  (IAGP)
Neurodevelopmental delay  (IAGP)
Obesity  (IAGP)
Oligohydramnios  (IAGP)
Overweight  (IAGP)
Pancreatic aplasia  (IAGP)
Pancreatic hypoplasia  (IAGP)
Peripheral axonal neuropathy  (IAGP)
Prominent metopic ridge  (IAGP)
Reduced C-peptide level  (IAGP)
Reduced pancreatic beta cells  (IAGP)
Renal cyst  (IAGP)
Renal tubular dysfunction  (IAGP)
Retinopathy  (IAGP)
Transient neonatal diabetes mellitus  (IAGP)
Type II diabetes mellitus  (IAGP)
Weight loss  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. beta-cell-specific inactivation of the mouse Ipf1/Pdx1 gene results in loss of the beta-cell phenotype and maturity onset diabetes. Ahlgren U, etal., Genes Dev. 1998 Jun 15;12(12):1763-8.
2. A hierarchical analysis of transcriptome alterations in intrauterine growth restriction (IUGR) reveals common pathophysiological pathways in mammals. Buffat C, etal., J Pathol. 2007 Nov;213(3):337-46.
3. High glucose is necessary for complete maturation of Pdx1-VP16-expressing hepatic cells into functional insulin-producing cells. Cao LZ, etal., Diabetes. 2004 Dec;53(12):3168-78.
4. Reversal of streptozotocin-induced diabetes in rats by gene therapy with betacellulin and pancreatic duodenal homeobox-1. Chen S, etal., Gene Ther. 2007 Jul;14(14):1102-10. Epub 2007 Apr 26.
5. Functional and molecular defects of pancreatic islets in human type 2 diabetes. Del Guerra S, etal., Diabetes. 2005 Mar;54(3):727-35.
6. Adult rat liver cells transdifferentiated with lentiviral IPF1 vectors reverse diabetes in mice: an ex vivo gene therapy approach. Fodor A, etal., Diabetologia. 2007 Jan;50(1):121-30. Epub 2006 Nov 28.
7. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
8. Cyclical and alternating infusions of glucose and intralipid in rats inhibit insulin gene expression and Pdx-1 binding in islets. Hagman DK, etal., Diabetes. 2008 Feb;57(2):424-31. Epub 2007 Nov 8.
9. Defective mutations in the insulin promoter factor-1 (IPF-1) gene in late-onset type 2 diabetes mellitus. Hani EH, etal., J Clin Invest. 1999 Nov;104(9):R41-8.
10. In vivo prevention of hyperglycemia also prevents glucotoxic effects on PDX-1 and insulin gene expression. Harmon JS, etal., Diabetes. 1999 Oct;48(10):1995-2000.
11. Cholesterol accumulation and diabetes in pancreatic beta-cell-specific SREBP-2 transgenic mice: a new model for lipotoxicity. Ishikawa M, etal., J Lipid Res. 2008 Dec;49(12):2524-34. Epub 2008 Aug 5.
12. Mechanisms of compensatory beta-cell growth in insulin-resistant rats: roles of Akt kinase. Jetton TL, etal., Diabetes. 2005 Aug;54(8):2294-304.
13. Conophylline: a novel differentiation inducer for pancreatic beta cells. Kojima I and Umezawa K, Int J Biochem Cell Biol. 2006;38(5-6):923-30. Epub 2005 Oct 26.
14. c-Kit in early onset of diabetes: a morphological and functional analysis of pancreatic beta-cells in c-KitW-v mutant mice. Krishnamurthy M, etal., Endocrinology. 2007 Nov;148(11):5520-30. Epub 2007 Aug 2.
15. Long-term consumption of fermented soybean-derived Chungkookjang enhances insulinotropic action unlike soybeans in 90% pancreatectomized diabetic rats. Kwon DY, etal., Eur J Nutr. 2007 Feb;46(1):44-52. Epub 2007 Jan 2.
16. Influence of diabetes on the loss of beta cell differentiation after islet transplantation in rats. Laybutt DR, etal., Diabetologia. 2007 Oct;50(10):2117-25. Epub 2007 Jul 20.
17. Critical reduction in beta-cell mass results in two distinct outcomes over time. Adaptation with impaired glucose tolerance or decompensated diabetes. Laybutt DR, etal., J Biol Chem. 2003 Jan 31;278(5):2997-3005. Epub 2002 Nov 15.
18. Adeno-associated virus-mediated pancreatic and duodenal homeobox gene-1 expression enhanced differentiation of hepatic oval stem cells to insulin-producing cells in diabetic rats. Li H, etal., J Biomed Sci. 2008 Jul;15(4):487-97. Epub 2008 Feb 6.
19. Activin A and betacellulin: effect on regeneration of pancreatic beta-cells in neonatal streptozotocin-treated rats. Li L, etal., Diabetes 2004 Mar;53(3):608-15.
20. Generation of insulin-producing cells from PDX-1 gene-modified human mesenchymal stem cells. Li Y, etal., J Cell Physiol. 2007 Apr;211(1):36-44.
21. Treatment of Type 1 Diabetes with Adipose Tissue-Derived Stem Cells Expressing Pancreatic Duodenal Homeobox 1. Lin G, etal., Stem Cells Dev. 2009 Feb 26.
22. PDX-1 expression and proliferation of duct epithelial cells after partial pancreatectomy in rats. Liu T, etal., Hepatobiliary Pancreat Dis Int. 2007 Aug;6(4):424-9.
23. Peroxisome proliferator-activated receptor-gamma regulates expression of PDX-1 and NKX6.1 in INS-1 cells. Moibi JA, etal., Diabetes. 2007 Jan;56(1):88-95.
24. Combining a dipeptidyl peptidase-4 inhibitor, alogliptin, with pioglitazone improves glycaemic control, lipid profiles and beta-cell function in db/db mice. Moritoh Y, etal., Br J Pharmacol. 2009 Jun;157(3):415-26. Epub 2009 Apr 3.
25. Endocrine pancreatic tissue plasticity in obese humans is associated with cytoplasmic expression of PBX-1 in pancreatic ductal cells. Muharram G, etal., Biochem Biophys Res Commun. 2005 Aug 12;333(4):1153-9.
26. alpha-Cell neogenesis in an animal model of IDDM. O'Reilly LA, etal., Diabetes. 1997 Apr;46(4):599-606.
27. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
28. Role of the D76N polymorphism of insulin promoter factor-1 in predisposing to Type 2 diabetes. Owen KR, etal., Diabetologia. 2004 May;47(5):957-8. Epub 2004 May 7.
29. Development of type 2 diabetes following intrauterine growth retardation in rats is associated with progressive epigenetic silencing of Pdx1. Park JH, etal., J Clin Invest. 2008 Jun;118(6):2316-24.
30. Exercise improves glucose homeostasis that has been impaired by a high-fat diet by potentiating pancreatic beta-cell function and mass through IRS2 in diabetic rats. Park S, etal., J Appl Physiol. 2007 Nov;103(5):1764-71. Epub 2007 Aug 30.
31. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
32. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
33. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
34. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
35. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
36. Expression of the Notch signaling pathway and effect on exocrine cell proliferation in adult rat pancreas. Rooman I, etal., Am J Pathol. 2006 Oct;169(4):1206-14.
37. Development of beta-cells in the native pancreas after pancreas allo-transplantation in the Spontaneously Diabetic Torii rat. Shimada K, etal., J Surg Res. 2008 Apr;145(2):229-37. Epub 2007 Aug 30.
38. Regeneration of beta cells in the native pancreata after syngeneic and allogeneic pancreas transplantations in spontaneously type 2 diabetic Torii rats. Shimada K, etal., Transplant Proc. 2008 Mar;40(2):438-40.
39. Ectopic PDX-1 expression in liver ameliorates type 1 diabetes. Shternhall-Ron K, etal., J Autoimmun. 2007 Mar-May;28(2-3):134-42. Epub 2007 Mar 23.
40. Neonatal exendin-4 prevents the development of diabetes in the intrauterine growth retarded rat. Stoffers DA, etal., Diabetes. 2003 Mar;52(3):734-40.
41. Induction of PDX-1-positive cells in the main duct during regeneration after acute necrotizing pancreatitis in rats. Taguchi M, etal., J Pathol. 2002 Aug;197(5):638-46.
42. Genetic deficiency of glycogen synthase kinase-3beta corrects diabetes in mouse models of insulin resistance. Tanabe K, etal., PLoS Biol. 2008 Feb;6(2):e37.
43. Expression of transcription factors and precursor cell markers during regeneration of beta cells in pancreata of rats treated with streptozotocin. Tiemann K, etal., Virchows Arch. 2007 Mar;450(3):261-6. Epub 2007 Jan 18.
44. Hydrolysed casein diet protects BB rats from developing diabetes by promoting islet neogenesis. Wang GS, etal., J Autoimmun. 2000 Dec;15(4):407-16.
45. In vitro transdifferentiation of mature hepatocytes into insulin-producing cells. Yamada S, etal., Endocr J. 2006 Dec;53(6):789-95. Epub 2006 Sep 19.
46. Association of genetic variants with atherothrombotic cerebral infarction in Japanese individuals with metabolic syndrome. Yamada Y, etal., Int J Mol Med. 2008 Jun;21(6):801-8.
Additional References at PubMed
PMID:7505393   PMID:7590740   PMID:8635654   PMID:8923459   PMID:8954967   PMID:8986763   PMID:8988180   PMID:9111329   PMID:9115263   PMID:9252422   PMID:10545530   PMID:10636926  
PMID:10751390   PMID:11022198   PMID:11076863   PMID:11270685   PMID:11279116   PMID:11772903   PMID:11834421   PMID:12052878   PMID:12124776   PMID:12477932   PMID:12783165   PMID:12947327  
PMID:12970316   PMID:12972592   PMID:14631368   PMID:14764823   PMID:14968112   PMID:15028719   PMID:15047618   PMID:15107297   PMID:15121856   PMID:15277425   PMID:15300214   PMID:15664999  
PMID:15665000   PMID:15754742   PMID:15839736   PMID:15896300   PMID:15993959   PMID:16092045   PMID:16141209   PMID:16166097   PMID:16229747   PMID:16390394   PMID:16405074   PMID:16407209  
PMID:16675598   PMID:16741735   PMID:16873704   PMID:16874866   PMID:16894468   PMID:17003361   PMID:17126328   PMID:17143557   PMID:17327436   PMID:17583748   PMID:17592437   PMID:17705277  
PMID:17761145   PMID:17941991   PMID:17957487   PMID:18060872   PMID:18361919   PMID:18477649   PMID:18508668   PMID:18522939   PMID:18593849   PMID:18665085   PMID:18671802   PMID:18718916  
PMID:18754095   PMID:18754323   PMID:18811724   PMID:18855980   PMID:18951430   PMID:19056482   PMID:19056911   PMID:19077462   PMID:19208834   PMID:19228875   PMID:19274049   PMID:19277121  
PMID:19515026   PMID:19578796   PMID:19755420   PMID:19833727   PMID:19843526   PMID:19910415   PMID:19913121   PMID:20009086   PMID:20036830   PMID:20301620   PMID:20301750   PMID:20353756  
PMID:20381624   PMID:20416077   PMID:20467340   PMID:20621032   PMID:20622005   PMID:20628086   PMID:20668890   PMID:20682687   PMID:20811152   PMID:20962579   PMID:21108535   PMID:21228366  
PMID:21278380   PMID:21612404   PMID:21652712   PMID:21739268   PMID:21873635   PMID:21909647   PMID:21986529   PMID:22322596   PMID:22570331   PMID:22581228   PMID:22594685   PMID:22640736  
PMID:22761608   PMID:22905092   PMID:23147868   PMID:23320570   PMID:23331010   PMID:23696946   PMID:23775130   PMID:23796517   PMID:23853095   PMID:23863625   PMID:23950697   PMID:24464100  
PMID:24567802   PMID:25086665   PMID:25201603   PMID:25287601   PMID:25454709   PMID:25801033   PMID:25817342   PMID:25839229   PMID:25843046   PMID:26058934   PMID:26252949   PMID:26345820  
PMID:26491904   PMID:26695692   PMID:26727107   PMID:26781599   PMID:27620967   PMID:27998294   PMID:28036027   PMID:28087712   PMID:28095440   PMID:28202025   PMID:28436541   PMID:28473536  
PMID:28632450   PMID:28835709   PMID:28864896   PMID:29096722   PMID:29730292   PMID:29792621   PMID:30310259   PMID:30338795   PMID:30449689   PMID:30930126   PMID:31626200   PMID:31789399  
PMID:32103422   PMID:32375045   PMID:32556999   PMID:32690606   PMID:33309974   PMID:33407691   PMID:33484392   PMID:33569632   PMID:33746035   PMID:33894201   PMID:33961781   PMID:33989778  
PMID:34357821   PMID:34461288   PMID:34696776   PMID:34804002   PMID:35169223   PMID:35183219   PMID:35279781   PMID:36272648   PMID:36496541   PMID:36718853   PMID:37652665   PMID:38171340  


Genomics

Comparative Map Data
PDX1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381327,920,000 - 27,926,313 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1327,920,000 - 27,926,313 (+)EnsemblGRCh38hg38GRCh38
GRCh371328,494,137 - 28,500,450 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361327,392,157 - 27,397,394 (+)NCBINCBI36Build 36hg18NCBI36
Build 341327,392,176 - 27,397,394NCBI
Celera139,568,879 - 9,575,162 (+)NCBICelera
Cytogenetic Map13q12.2NCBI
HuRef139,314,253 - 9,320,535 (+)NCBIHuRef
CHM1_11328,462,445 - 28,468,728 (+)NCBICHM1_1
T2T-CHM13v2.01327,141,129 - 27,147,442 (+)NCBIT2T-CHM13v2.0
Pdx1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm395147,206,907 - 147,212,658 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl5147,206,769 - 147,212,658 (+)EnsemblGRCm39 Ensembl
GRCm385147,270,097 - 147,275,848 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl5147,269,959 - 147,275,848 (+)EnsemblGRCm38mm10GRCm38
MGSCv375148,081,707 - 148,086,725 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv365147,580,475 - 147,586,196 (+)NCBIMGSCv36mm8
Celera5145,261,170 - 145,266,188 (+)NCBICelera
Cytogenetic Map5G3NCBI
cM Map586.84NCBI
Pdx1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81212,793,957 - 12,799,156 (-)NCBIGRCr8
mRatBN7.2127,757,865 - 7,763,064 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl127,757,865 - 7,763,064 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx128,444,089 - 8,449,310 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0129,067,243 - 9,072,462 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0128,095,256 - 8,100,469 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0129,496,044 - 9,501,211 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl129,496,044 - 9,501,213 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01211,609,488 - 11,614,655 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera129,495,501 - 9,500,668 (-)NCBICelera
Cytogenetic Map12p11NCBI
Pdx1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049554977,281,886 - 7,307,969 (+)NCBIChiLan1.0ChiLan1.0
PDX1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21427,506,036 - 27,512,108 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11318,610,792 - 18,616,867 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0139,199,572 - 9,206,202 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11327,545,855 - 27,553,118 (+)NCBIpanpan1.1PanPan1.1panPan2
PDX1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12511,741,863 - 11,746,885 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2511,741,863 - 11,746,885 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2511,805,337 - 11,810,359 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02511,870,873 - 11,875,895 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2511,870,873 - 11,875,895 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12511,765,554 - 11,770,575 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02511,758,195 - 11,763,217 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02511,802,135 - 11,807,157 (-)NCBIUU_Cfam_GSD_1.0
Pdx1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404945172,845,028 - 172,849,677 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647223,102,534 - 23,107,127 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647223,102,534 - 23,107,127 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PDX1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl115,303,609 - 5,309,063 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1115,303,609 - 5,309,063 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2114,961,177 - 4,966,632 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PDX1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.137,038,088 - 7,046,593 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl37,041,466 - 7,045,976 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605737,343,264 - 37,348,413 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Pdx1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462477610,591,855 - 10,596,676 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462477610,591,855 - 10,596,738 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PDX1
136 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000209.4(PDX1):c.719C>G (p.Pro240Arg) single nucleotide variant Maturity-onset diabetes of the young type 4 [RCV002481677]|Monogenic diabetes [RCV001174446]|PDX1-related condition [RCV003409736]|not provided [RCV003727759]|not specified [RCV000516994] Chr13:27924568 [GRCh38]
Chr13:28498705 [GRCh37]
Chr13:13q12.2
uncertain significance
NM_000209.4(PDX1):c.188del (p.Pro63fs) deletion Maturity onset diabetes mellitus in young [RCV002408471]|Maturity-onset diabetes of the young type 4 [RCV000503973]|Maturity-onset diabetes of the young type 4 [RCV001249085]|Maturity-onset diabetes of the young type 4 [RCV002476994]|Pancreatic agenesis 1 [RCV001847609]|Permanent neonatal diabetes mellitus [RCV000020214]|not provided [RCV000516632] Chr13:27920321 [GRCh38]
Chr13:28494458 [GRCh37]
Chr13:13q12.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000209.4(PDX1):c.-18C>T single nucleotide variant Maturity-onset diabetes of the young type 4 [RCV000030073]|not specified [RCV000425057] Chr13:27920121 [GRCh38]
Chr13:28494258 [GRCh37]
Chr13:13q12.2
benign|likely benign|uncertain significance
NM_000209.4(PDX1):c.-50CTCCCGG[5] microsatellite Maturity-onset diabetes of the young type 4 [RCV000030074] Chr13:27920088..27920089 [GRCh38]
Chr13:28494225..28494226 [GRCh37]
Chr13:13q12.2
uncertain significance
NM_000209.4(PDX1):c.162G>A (p.Leu54=) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002399341]|Maturity-onset diabetes of the young type 4 [RCV000030075]|Pancreatic hypoplasia [RCV002465493]|not provided [RCV000882803]|not specified [RCV000396870] Chr13:27920300 [GRCh38]
Chr13:28494437 [GRCh37]
Chr13:13q12.2
benign|likely benign
NM_000209.4(PDX1):c.216C>T (p.Pro72=) single nucleotide variant Maturity-onset diabetes of the young type 4 [RCV002496460]|Neonatal diabetes mellitus [RCV000030076]|not provided [RCV002513255] Chr13:27920354 [GRCh38]
Chr13:28494491 [GRCh37]
Chr13:13q12.2
likely benign
NM_000209.4(PDX1):c.318G>T (p.Pro106=) single nucleotide variant Maturity-onset diabetes of the young type 4 [RCV000030078] Chr13:27920456 [GRCh38]
Chr13:28494593 [GRCh37]
Chr13:13q12.2
likely benign
NM_000209.4(PDX1):c.442C>G (p.Arg148Gly) single nucleotide variant Maturity-onset diabetes of the young type 4 [RCV000030079] Chr13:27924291 [GRCh38]
Chr13:28498428 [GRCh37]
Chr13:13q12.2
likely pathogenic
NM_000209.4(PDX1):c.543C>T (p.Val181=) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002345257]|Maturity-onset diabetes of the young type 4 [RCV000030080]|not provided [RCV000332874]|not specified [RCV001289059] Chr13:27924392 [GRCh38]
Chr13:28498529 [GRCh37]
Chr13:13q12.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000209.4(PDX1):c.571A>C (p.Lys191Gln) single nucleotide variant Maturity-onset diabetes of the young type 4 [RCV000030081] Chr13:27924420 [GRCh38]
Chr13:28498557 [GRCh37]
Chr13:13q12.2
likely pathogenic
NM_000209.3(PDX1):c.724_726dupCCG (p.Pro244_Gly245insPro) duplication Maturity-onset diabetes of the young, type 4 [RCV000030082] Chr13:27924573..27924575 [GRCh38]
Chr13:28498710..28498712 [GRCh37]
Chr13:13q12.2
benign
NM_000209.4(PDX1):c.725C>T (p.Pro242Leu) single nucleotide variant Maturity-onset diabetes of the young type 4 [RCV001249016]|PDX1-related condition [RCV003934857]|Pancreatic hypoplasia [RCV002464002]|not provided [RCV000840733]|not specified [RCV000455258] Chr13:27924574 [GRCh38]
Chr13:28498711 [GRCh37]
Chr13:13q12.2
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000209.4(PDX1):c.714GCC[6] (p.Pro244_Gly245insPro) microsatellite Diabetes mellitus type 2, susceptibility to [RCV002279932]|Maturity onset diabetes mellitus in young [RCV002381270]|Maturity-onset diabetes of the young type 4 [RCV000030082]|Monogenic diabetes [RCV000445549]|Neonatal diabetes mellitus [RCV000030084]|not provided [RCV000959390]|not specified [RCV000261035] Chr13:27924562..27924563 [GRCh38]
Chr13:28498712..28498714 [GRCh37]
Chr13:13q12.2
risk factor|benign|likely benign|uncertain significance
NM_000209.4(PDX1):c.773A>G (p.Glu258Gly) single nucleotide variant Maturity-onset diabetes of the young type 4 [RCV000030085] Chr13:27924622 [GRCh38]
Chr13:28498759 [GRCh37]
Chr13:13q12.2
likely pathogenic
NM_000209.4(PDX1):c.97C>A (p.Pro33Thr) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002381271]|Maturity-onset diabetes of the young type 4 [RCV000988971]|Monogenic diabetes [RCV001174416]|Type 2 diabetes mellitus [RCV001329696]|not provided [RCV000414508]|not specified [RCV000030086] Chr13:27920235 [GRCh38]
Chr13:28494372 [GRCh37]
Chr13:13q12.2
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000209.4(PDX1):c.533A>G (p.Glu178Gly) single nucleotide variant Maturity-onset diabetes of the young type 4 [RCV000502995]|Pancreatic agenesis 1 [RCV000023034]|Permanent neonatal diabetes mellitus [RCV000239365] Chr13:27924382 [GRCh38]
Chr13:28498519 [GRCh37]
Chr13:13q12.2
pathogenic|not provided
PDX1, 1-BP DEL, 188C deletion Maturity-onset diabetes of the young type 4 [RCV000009407]|Pancreatic agenesis 1 [RCV000009406] Chr13:13q12.1 pathogenic
NM_000209.4(PDX1):c.590G>A (p.Arg197His) single nucleotide variant Diabetes mellitus type 2, susceptibility to [RCV001799500] Chr13:27924439 [GRCh38]
Chr13:28498576 [GRCh37]
Chr13:13q12.2
risk factor
NM_000209.4(PDX1):c.226G>A (p.Asp76Asn) single nucleotide variant Diabetes mellitus type 2, susceptibility to [RCV001799501]|Maturity onset diabetes mellitus in young [RCV000626294]|Maturity-onset diabetes of the young type 4 [RCV000030077]|Monogenic diabetes [RCV000445407]|Type 2 diabetes mellitus [RCV000009409]|not provided [RCV000948405]|not specified [RCV000246150] Chr13:27920364 [GRCh38]
Chr13:28494501 [GRCh37]
Chr13:13q12.2
likely pathogenic|risk factor|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000209.4(PDX1):c.176A>T (p.Gln59Leu) single nucleotide variant Diabetes mellitus type 2, susceptibility to [RCV001799502] Chr13:27920314 [GRCh38]
Chr13:28494451 [GRCh37]
Chr13:13q12.2
risk factor
NM_000209.4:c.726_728dup insertion Diabetes mellitus type 2, susceptibility to [RCV001799503] Chr13:13q12.1 risk factor
NM_000209.4(PDX1):c.52T>C (p.Cys18Arg) single nucleotide variant Diabetes mellitus type 2, susceptibility to [RCV001799504]|Maturity-onset diabetes of the young type 4 [RCV002482844]|Type 2 diabetes mellitus [RCV000009412]|not provided [RCV000439286] Chr13:27920190 [GRCh38]
Chr13:28494327 [GRCh37]
Chr13:13q12.2
likely pathogenic|risk factor|uncertain significance
NM_000209.4(PDX1):c.670G>A (p.Glu224Lys) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002362573]|Maturity-onset diabetes of the young type 4 [RCV000009413]|Maturity-onset diabetes of the young type 4 [RCV002467490]|Monogenic diabetes [RCV000445478]|Type 2 diabetes mellitus [RCV001258264]|not provided [RCV000523853]|not specified [RCV001659687] Chr13:27924519 [GRCh38]
Chr13:28498656 [GRCh37]
Chr13:13q12.2
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000209.4(PDX1):c.492G>T (p.Glu164Asp) single nucleotide variant Diabetes mellitus type 2, susceptibility to [RCV001799505]|Pancreatic agenesis 1 [RCV000020215] Chr13:27924341 [GRCh38]
Chr13:28498478 [GRCh37]
Chr13:13q12.2
pathogenic|risk factor
NM_000209.4(PDX1):c.532G>A (p.Glu178Lys) single nucleotide variant Pancreatic agenesis 1 [RCV000020216] Chr13:27924381 [GRCh38]
Chr13:28498518 [GRCh37]
Chr13:13q12.2
pathogenic
NM_000209.4(PDX1):c.820G>T (p.Val274Phe) single nucleotide variant Maturity-onset diabetes of the young type 4 [RCV002490898]|not provided [RCV000712003]|not specified [RCV001821454] Chr13:27924669 [GRCh38]
Chr13:28498806 [GRCh37]
Chr13:13q12.2
uncertain significance
NM_000209.4(PDX1):c.28G>A (p.Ala10Thr) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002438243]|Maturity-onset diabetes of the young type 4 [RCV002225108]|Monogenic diabetes [RCV001174415]|not provided [RCV001770392]|not specified [RCV000517828] Chr13:27920166 [GRCh38]
Chr13:28494303 [GRCh37]
Chr13:13q12.2
uncertain significance
GRCh38/hg38 13q12.11-12.3(chr13:18958091-31090460)x3 copy number gain See cases [RCV000053729] Chr13:18958091..31090460 [GRCh38]
Chr13:19532231..31664597 [GRCh37]
Chr13:18430231..30562597 [NCBI36]
Chr13:13q12.11-12.3
pathogenic
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 copy number gain See cases [RCV000053731] Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3 copy number gain See cases [RCV000053719] Chr13:18565048..114327173 [GRCh38]
Chr13:19139188..115085141 [GRCh37]
Chr13:18037188..114110750 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3 copy number gain See cases [RCV000053721] Chr13:18676442..37656039 [GRCh38]
Chr13:19250582..38230176 [GRCh37]
Chr13:18148582..37128176 [NCBI36]
Chr13:13q11-13.3
pathogenic
GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3 copy number gain See cases [RCV000053723] Chr13:18850545..114327173 [GRCh38]
Chr13:19296527..115085141 [GRCh37]
Chr13:18194527..114110750 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3 copy number gain See cases [RCV000053726] Chr13:18946182..114304628 [GRCh38]
Chr13:19520322..115070103 [GRCh37]
Chr13:18418322..114088205 [NCBI36]
Chr13:13q12.11-34
pathogenic
NM_000209.4(PDX1):c.728C>G (p.Pro243Arg) single nucleotide variant Monogenic diabetes [RCV000664142] Chr13:27924577 [GRCh38]
Chr13:28498714 [GRCh37]
Chr13:13q12.2
uncertain significance
NM_000209.4(PDX1):c.716C>A (p.Pro239Gln) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002371951]|Maturity-onset diabetes of the young type 4 [RCV000988972]|Monogenic diabetes [RCV000445403]|Pancreatic hypoplasia [RCV002250564]|not provided [RCV000117899]|not specified [RCV000515153] Chr13:27924565 [GRCh38]
Chr13:28498702 [GRCh37]
Chr13:13q12.2
benign|likely benign|uncertain significance
GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3 copy number gain See cases [RCV000134104] Chr13:19833130..114298614 [GRCh38]
Chr13:20407270..115064089 [GRCh37]
Chr13:19305270..114082191 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q12.13-12.3(chr13:26965244-30097858)x3 copy number gain See cases [RCV000135283] Chr13:26965244..30097858 [GRCh38]
Chr13:27539381..30671995 [GRCh37]
Chr13:26437381..29569995 [NCBI36]
Chr13:13q12.13-12.3
likely pathogenic
GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1 copy number loss See cases [RCV000135610] Chr13:18445862..114327173 [GRCh38]
Chr13:19020001..115085141 [GRCh37]
Chr13:10098739..114110750 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q12.11-14.11(chr13:19671934-40914767)x3 copy number gain See cases [RCV000137892] Chr13:19671934..40914767 [GRCh38]
Chr13:20246074..41488903 [GRCh37]
Chr13:19144074..40386903 [NCBI36]
Chr13:13q12.11-14.11
pathogenic
GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3 copy number gain See cases [RCV000139078] Chr13:19833130..114327106 [GRCh38]
Chr13:20407270..115085141 [GRCh37]
Chr13:19305270..114110683 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3 copy number gain See cases [RCV000140004] Chr13:18456040..114340285 [GRCh38]
Chr13:19030180..115105760 [GRCh37]
Chr13:17928180..114123862 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q11-13.2(chr13:18862146-33577351)x3 copy number gain See cases [RCV000141867] Chr13:18862146..33577351 [GRCh38]
Chr13:19436286..34151488 [GRCh37]
Chr13:18334286..33049488 [NCBI36]
Chr13:13q11-13.2
pathogenic
GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3 copy number gain See cases [RCV000142924] Chr13:19671934..114340331 [GRCh38]
Chr13:20246074..115085141 [GRCh37]
Chr13:19144074..114123908 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3 copy number gain See cases [RCV000143462] Chr13:18862146..114342258 [GRCh38]
Chr13:19436286..115107733 [GRCh37]
Chr13:18334286..114125835 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 copy number gain See cases [RCV000148126] Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34
pathogenic
NM_000209.4(PDX1):c.285G>A (p.Pro95=) single nucleotide variant not specified [RCV000195068] Chr13:27920423 [GRCh38]
Chr13:28494560 [GRCh37]
Chr13:13q12.2
conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3 copy number gain See cases [RCV000240150] Chr13:19571503..115092569 [GRCh37]
Chr13:13q12.11-34
pathogenic
NM_000209.4(PDX1):c.336C>G (p.Pro112=) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002450805]|PDX1-related condition [RCV003982983]|not provided [RCV000924378]|not specified [RCV000288861] Chr13:27920474 [GRCh38]
Chr13:28494611 [GRCh37]
Chr13:13q12.2
benign|likely benign|conflicting interpretations of pathogenicity
GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3 copy number gain See cases [RCV001353184] Chr13:19053605..115108528 [GRCh37]
Chr13:13q11-34
pathogenic
NM_000209.4(PDX1):c.312C>T (p.Ala104=) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002323879]|Maturity-onset diabetes of the young type 4 [RCV002506256]|not provided [RCV001560945]|not specified [RCV000518561] Chr13:27920450 [GRCh38]
Chr13:28494587 [GRCh37]
Chr13:13q12.2
likely benign
GRCh37/hg19 13q12.11-34(chr13:19571503-115092510) copy number gain See cases [RCV000449142] Chr13:19571503..115092510 [GRCh37]
Chr13:13q12.11-34
pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain See cases [RCV000445886] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
NM_000209.4(PDX1):c.6C>T (p.Asn2=) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002365519]|not provided [RCV000712002] Chr13:27920144 [GRCh38]
Chr13:28494281 [GRCh37]
Chr13:13q12.2
benign|likely benign
NM_000209.4(PDX1):c.732C>G (p.Pro244=) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002379376]|not provided [RCV000761855] Chr13:27924581 [GRCh38]
Chr13:28498718 [GRCh37]
Chr13:13q12.2
likely benign
NM_000209.4(PDX1):c.-50CTCCCGG[3] microsatellite not specified [RCV000485839] Chr13:27920089..27920095 [GRCh38]
Chr13:28494226..28494232 [GRCh37]
Chr13:13q12.2
likely benign
NM_000209.4(PDX1):c.502A>C (p.Asn168His) single nucleotide variant Maturity-onset diabetes of the young type 4 [RCV000501202] Chr13:27924351 [GRCh38]
Chr13:28498488 [GRCh37]
Chr13:13q12.2
likely pathogenic
GRCh37/hg19 13q11-34(chr13:19436287-115107733) copy number gain See cases [RCV000510405] Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3 copy number gain See cases [RCV000511880] Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
NM_000209.4(PDX1):c.165C>A (p.Gly55=) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002404702]|not provided [RCV000711998]|not specified [RCV000615233] Chr13:27920303 [GRCh38]
Chr13:28494440 [GRCh37]
Chr13:13q12.2
benign|likely benign
GRCh37/hg19 13q12.12-13.2(chr13:24080918-34361992)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626443] Chr13:24080918..34361992 [GRCh37]
Chr13:13q12.12-13.2
drug response
GRCh37/hg19 13q12.2-12.3(chr13:28152002-29117192)x3 copy number gain See cases [RCV000512521] Chr13:28152002..29117192 [GRCh37]
Chr13:13q12.2-12.3
uncertain significance
GRCh37/hg19 13q11-22.1(chr13:19436286-74045459)x3 copy number gain not provided [RCV000683572] Chr13:19436286..74045459 [GRCh37]
Chr13:13q11-22.1
pathogenic
NM_000209.4(PDX1):c.*8G>A single nucleotide variant not provided [RCV000711997] Chr13:27924709 [GRCh38]
Chr13:28498846 [GRCh37]
Chr13:13q12.2
uncertain significance
NM_000209.4(PDX1):c.8G>C (p.Gly3Ala) single nucleotide variant Maturity-onset diabetes of the young type 4 [RCV002493262]|Pancreatic hypoplasia [RCV002463733]|not provided [RCV000712004]|not specified [RCV003151139] Chr13:27920146 [GRCh38]
Chr13:28494283 [GRCh37]
Chr13:13q12.2
uncertain significance
NM_000209.4(PDX1):c.217dup (p.Leu73fs) duplication PDX1-Related Disorders [RCV002271575]|not provided [RCV000711999] Chr13:27920348..27920349 [GRCh38]
Chr13:28494485..28494486 [GRCh37]
Chr13:13q12.2
pathogenic|likely pathogenic
NM_000209.4(PDX1):c.259C>G (p.Pro87Ala) single nucleotide variant not provided [RCV000712000] Chr13:27920397 [GRCh38]
Chr13:28494534 [GRCh37]
Chr13:13q12.2
uncertain significance
NM_000209.4(PDX1):c.418G>A (p.Ala140Thr) single nucleotide variant Pancreatic hypoplasia [RCV002464032]|not provided [RCV000712001] Chr13:27924267 [GRCh38]
Chr13:28498404 [GRCh37]
Chr13:13q12.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 13q11-34(chr13:19058717-115103529)x3 copy number gain not provided [RCV000738115] Chr13:19058717..115103529 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q11-34(chr13:19031237-115107157)x3 copy number gain not provided [RCV000750643] Chr13:19031237..115107157 [GRCh37]
Chr13:13q11-34
pathogenic
NM_000209.4(PDX1):c.210G>T (p.Val70=) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002421237]|not specified [RCV001663740] Chr13:27920348 [GRCh38]
Chr13:28494485 [GRCh37]
Chr13:13q12.2
likely benign
NM_000209.4(PDX1):c.97C>G (p.Pro33Ala) single nucleotide variant Maturity-onset diabetes of the young type 4 [RCV002468284]|not provided [RCV002032659]|not specified [RCV001663754] Chr13:27920235 [GRCh38]
Chr13:28494372 [GRCh37]
Chr13:13q12.2
benign|likely benign|uncertain significance
NM_000209.4(PDX1):c.321C>A (p.Gly107=) single nucleotide variant not provided [RCV000898900] Chr13:27920459 [GRCh38]
Chr13:28494596 [GRCh37]
Chr13:13q12.2
likely benign
NM_000209.4(PDX1):c.848G>A (p.Arg283Gln) single nucleotide variant not provided [RCV000827595]|not specified [RCV001664447] Chr13:27924697 [GRCh38]
Chr13:28498834 [GRCh37]
Chr13:13q12.2
likely benign|conflicting interpretations of pathogenicity
NM_000209.4(PDX1):c.407-70G>C single nucleotide variant not provided [RCV000832832] Chr13:27924186 [GRCh38]
Chr13:28498323 [GRCh37]
Chr13:13q12.2
benign
NM_000209.4(PDX1):c.407-68G>T single nucleotide variant not provided [RCV000832833] Chr13:27924188 [GRCh38]
Chr13:28498325 [GRCh37]
Chr13:13q12.2
benign
NM_000209.4(PDX1):c.407-291G>A single nucleotide variant not provided [RCV000828886] Chr13:27923965 [GRCh38]
Chr13:28498102 [GRCh37]
Chr13:13q12.2
benign
NM_000209.3(PDX1):c.-279G>A single nucleotide variant not provided [RCV000828829] Chr13:27919860 [GRCh38]
Chr13:28493997 [GRCh37]
Chr13:13q12.2
benign
NM_000209.4(PDX1):c.406+268C>G single nucleotide variant not provided [RCV000844016] Chr13:27920812 [GRCh38]
Chr13:28494949 [GRCh37]
Chr13:13q12.2
benign
NM_000209.4(PDX1):c.683_699del (p.Ala228fs) deletion not provided [RCV000992181] Chr13:27924531..27924547 [GRCh38]
Chr13:28498668..28498684 [GRCh37]
Chr13:13q12.2
likely pathogenic
NM_000209.4(PDX1):c.110A>T (p.Tyr37Phe) single nucleotide variant not provided [RCV000992180]|not specified [RCV002307649] Chr13:27920248 [GRCh38]
Chr13:28494385 [GRCh37]
Chr13:13q12.2
uncertain significance
GRCh37/hg19 13q12.2(chr13:28083408-28591050)x3 copy number gain not provided [RCV001006554] Chr13:28083408..28591050 [GRCh37]
Chr13:13q12.2
uncertain significance
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain not provided [RCV000849129] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
NM_000209.4(PDX1):c.429G>C (p.Pro143=) single nucleotide variant PDX1-related condition [RCV003895483]|not provided [RCV000899157] Chr13:27924278 [GRCh38]
Chr13:28498415 [GRCh37]
Chr13:13q12.2
likely benign
NM_000209.4(PDX1):c.693C>T (p.Ser231=) single nucleotide variant PDX1-related condition [RCV003930741]|not provided [RCV000889088]|not specified [RCV001824903] Chr13:27924542 [GRCh38]
Chr13:28498679 [GRCh37]
Chr13:13q12.2
benign|likely benign
NM_000209.4(PDX1):c.99T>C (p.Pro33=) single nucleotide variant not provided [RCV000932738] Chr13:27920237 [GRCh38]
Chr13:28494374 [GRCh37]
Chr13:13q12.2
likely benign
NM_000209.4(PDX1):c.208G>A (p.Val70Met) single nucleotide variant Maturity-onset diabetes of the young type 4 [RCV003227922]|Monogenic diabetes [RCV001174444] Chr13:27920346 [GRCh38]
Chr13:28494483 [GRCh37]
Chr13:13q12.2
uncertain significance
NM_000209.4(PDX1):c.455C>T (p.Ala152Val) single nucleotide variant Monogenic diabetes [RCV001174445]|not provided [RCV001873640] Chr13:27924304 [GRCh38]
Chr13:28498441 [GRCh37]
Chr13:13q12.2
uncertain significance
NC_000013.11:g.27919720T>G single nucleotide variant not provided [RCV001620865] Chr13:27919720 [GRCh38]
Chr13:28493857 [GRCh37]
Chr13:13q12.2
benign
NM_000209.4(PDX1):c.800C>T (p.Ala267Val) single nucleotide variant Pancreatic hypoplasia [RCV002464056] Chr13:27924649 [GRCh38]
Chr13:28498786 [GRCh37]
Chr13:13q12.2
uncertain significance
NM_000209.4(PDX1):c.567C>A (p.His189Gln) single nucleotide variant not provided [RCV000995051] Chr13:27924416 [GRCh38]
Chr13:28498553 [GRCh37]
Chr13:13q12.2
uncertain significance
NM_000209.4(PDX1):c.274C>T (p.Leu92Phe) single nucleotide variant Pancreatic hypoplasia [RCV002464049] Chr13:27920412 [GRCh38]
Chr13:28494549 [GRCh37]
Chr13:13q12.2
uncertain risk allele
NM_000209.4(PDX1):c.463C>A (p.Arg155Ser) single nucleotide variant not provided [RCV001565102] Chr13:27924312 [GRCh38]
Chr13:28498449 [GRCh37]
Chr13:13q12.2
uncertain significance
NM_000209.4(PDX1):c.127_128insGCCG (p.Pro43fs) insertion Monogenic diabetes [RCV001174447] Chr13:27920265..27920266 [GRCh38]
Chr13:28494402..28494403 [GRCh37]
Chr13:13q12.2
uncertain significance
GRCh37/hg19 13q12.12-12.3(chr13:23775339-30534624)x3 copy number gain not provided [RCV001258538] Chr13:23775339..30534624 [GRCh37]
Chr13:13q12.12-12.3
likely pathogenic
GRCh37/hg19 13p13-q34(chr13:1-115169878) copy number gain Complete trisomy 13 syndrome [RCV002280659] Chr13:1..115169878 [GRCh37]
Chr13:13p13-q34
pathogenic
NM_000209.4(PDX1):c.694G>A (p.Gly232Ser) single nucleotide variant not provided [RCV001289060] Chr13:27924543 [GRCh38]
Chr13:28498680 [GRCh37]
Chr13:13q12.2
uncertain significance
NM_000209.4(PDX1):c.663G>A (p.Ala221=) single nucleotide variant not specified [RCV001663765] Chr13:27924512 [GRCh38]
Chr13:28498649 [GRCh37]
Chr13:13q12.2
benign
NM_000209.4(PDX1):c.837G>T (p.Pro279=) single nucleotide variant not provided [RCV001289061] Chr13:27924686 [GRCh38]
Chr13:28498823 [GRCh37]
Chr13:13q12.2
likely benign
NM_000209.4(PDX1):c.-106del deletion not provided [RCV001536434] Chr13:27920030 [GRCh38]
Chr13:28494167 [GRCh37]
Chr13:13q12.2
benign
NM_000209.4(PDX1):c.211C>A (p.Pro71Thr) single nucleotide variant Maturity-onset diabetes of the young type 4 [RCV002499697]|PDX1-related condition [RCV003393992]|not provided [RCV001347094] Chr13:27920349 [GRCh38]
Chr13:28494486 [GRCh37]
Chr13:13q12.2
uncertain significance
NM_000209.4(PDX1):c.474G>T (p.Leu158=) single nucleotide variant not provided [RCV001289058] Chr13:27924323 [GRCh38]
Chr13:28498460 [GRCh37]
Chr13:13q12.2
uncertain significance
NM_000209.4(PDX1):c.-86G>T single nucleotide variant not provided [RCV001588388] Chr13:27920053 [GRCh38]
Chr13:28494190 [GRCh37]
Chr13:13q12.2
likely benign
NM_000209.4(PDX1):c.407-128C>G single nucleotide variant not provided [RCV001687895] Chr13:27924128 [GRCh38]
Chr13:28498265 [GRCh37]
Chr13:13q12.2
benign
NM_000209.4(PDX1):c.485A>C (p.Glu162Ala) single nucleotide variant not provided [RCV001758142] Chr13:27924334 [GRCh38]
Chr13:28498471 [GRCh37]
Chr13:13q12.2
uncertain significance
NM_000209.4(PDX1):c.681C>A (p.Cys227Ter) single nucleotide variant PDX1-Related Disorder [RCV001825020]|not provided [RCV001751876] Chr13:27924530 [GRCh38]
Chr13:28498667 [GRCh37]
Chr13:13q12.2
uncertain significance|not provided
GRCh37/hg19 13p13-q34(chr13:1-115169878)x3 copy number gain See cases [RCV001780076] Chr13:1..115169878 [GRCh37]
Chr13:13p13-q34
pathogenic
NM_000209.4(PDX1):c.349C>A (p.Leu117Met) single nucleotide variant not provided [RCV003728038]|not specified [RCV001817678] Chr13:27920487 [GRCh38]
Chr13:28494624 [GRCh37]
Chr13:13q12.2
uncertain significance
NM_000209.4(PDX1):c.101C>T (p.Ala34Val) single nucleotide variant not provided [RCV003728021]|not specified [RCV001817577] Chr13:27920239 [GRCh38]
Chr13:28494376 [GRCh37]
Chr13:13q12.2
uncertain significance
NM_000209.4(PDX1):c.620A>G (p.Lys207Arg) single nucleotide variant not specified [RCV001819163] Chr13:27924469 [GRCh38]
Chr13:28498606 [GRCh37]
Chr13:13q12.2
uncertain significance
NM_000209.4(PDX1):c.489G>A (p.Lys163=) single nucleotide variant not specified [RCV001819320] Chr13:27924338 [GRCh38]
Chr13:28498475 [GRCh37]
Chr13:13q12.2
uncertain significance
NM_000209.4(PDX1):c.191A>G (p.Asp64Gly) single nucleotide variant not provided [RCV001896766] Chr13:27920329 [GRCh38]
Chr13:28494466 [GRCh37]
Chr13:13q12.2
uncertain significance
GRCh37/hg19 13q11-34(chr13:19436286-114981726) copy number gain not specified [RCV002053035] Chr13:19436286..114981726 [GRCh37]
Chr13:13q11-34
pathogenic
NM_000209.4(PDX1):c.296C>A (p.Pro99His) single nucleotide variant Maturity-onset diabetes of the young type 4 [RCV002490245]|not provided [RCV001909803] Chr13:27920434 [GRCh38]
Chr13:28494571 [GRCh37]
Chr13:13q12.2
uncertain significance
NM_000209.4(PDX1):c.282C>G (p.His94Gln) single nucleotide variant Maturity-onset diabetes of the young type 4 [RCV001823572] Chr13:27920420 [GRCh38]
Chr13:28494557 [GRCh37]
Chr13:13q12.2
uncertain significance
NM_000209.4(PDX1):c.107T>G (p.Leu36Arg) single nucleotide variant Maturity-onset diabetes of the young type 4 [RCV002468380]|not provided [RCV002020957] Chr13:27920245 [GRCh38]
Chr13:28494382 [GRCh37]
Chr13:13q12.2
uncertain significance
GRCh37/hg19 13q11-34(chr13:19436286-115107733) copy number gain not specified [RCV002053036] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain not provided [RCV001834436] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
NM_000209.4(PDX1):c.646G>C (p.Gly216Arg) single nucleotide variant not provided [RCV002038623] Chr13:27924495 [GRCh38]
Chr13:28498632 [GRCh37]
Chr13:13q12.2
uncertain significance
NM_000209.4(PDX1):c.239C>T (p.Ala80Val) single nucleotide variant not provided [RCV002035645] Chr13:27920377 [GRCh38]
Chr13:28494514 [GRCh37]
Chr13:13q12.2
uncertain significance
NM_000209.4(PDX1):c.651del (p.Gly218fs) deletion Maturity-onset diabetes of the young type 4 [RCV003446962]|not provided [RCV001936814] Chr13:27924500 [GRCh38]
Chr13:28498637 [GRCh37]
Chr13:13q12.2
likely pathogenic|uncertain significance
NM_000209.4(PDX1):c.47A>T (p.Asp16Val) single nucleotide variant not provided [RCV001998863] Chr13:27920185 [GRCh38]
Chr13:28494322 [GRCh37]
Chr13:13q12.2
uncertain significance
NM_000209.4(PDX1):c.98C>A (p.Pro33His) single nucleotide variant Maturity-onset diabetes of the young type 4 [RCV002503590]|not provided [RCV001932971] Chr13:27920236 [GRCh38]
Chr13:28494373 [GRCh37]
Chr13:13q12.2
uncertain significance
NM_000209.4(PDX1):c.731C>G (p.Pro244Arg) single nucleotide variant not provided [RCV002035192] Chr13:27924580 [GRCh38]
Chr13:28498717 [GRCh37]
Chr13:13q12.2
uncertain significance
NM_000209.4(PDX1):c.841G>C (p.Glu281Gln) single nucleotide variant Maturity-onset diabetes of the young type 4 [RCV002507028]|not provided [RCV001939962] Chr13:27924690 [GRCh38]
Chr13:28498827 [GRCh37]
Chr13:13q12.2
uncertain significance
NM_000209.4(PDX1):c.779G>A (p.Arg260His) single nucleotide variant not provided [RCV001918255] Chr13:27924628 [GRCh38]
Chr13:28498765 [GRCh37]
Chr13:13q12.2
uncertain significance
NM_000209.4(PDX1):c.769C>T (p.Arg257Ter) single nucleotide variant Maturity-onset diabetes of the young type 4 [RCV002211058] Chr13:27924618 [GRCh38]
Chr13:28498755 [GRCh37]
Chr13:13q12.2
uncertain significance
NM_000209.4(PDX1):c.498A>G (p.Leu166=) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002337253]|Maturity-onset diabetes of the young type 4 [RCV002494156]|PDX1-related condition [RCV003923555]|not provided [RCV002087882] Chr13:27924347 [GRCh38]
Chr13:28498484 [GRCh37]
Chr13:13q12.2
likely benign
NM_000209.4(PDX1):c.164G>A (p.Gly55Asp) single nucleotide variant Maturity-onset diabetes of the young type 4 [RCV003329123]|not provided [RCV002226082] Chr13:27920302 [GRCh38]
Chr13:28494439 [GRCh37]
Chr13:13q12.2
likely benign|conflicting interpretations of pathogenicity
NM_000209.4(PDX1):c.134C>G (p.Pro45Arg) single nucleotide variant not provided [RCV002278889] Chr13:27920272 [GRCh38]
Chr13:28494409 [GRCh37]
Chr13:13q12.2
uncertain significance
NM_000209.4(PDX1):c.488A>G (p.Lys163Arg) single nucleotide variant PDX1-Related Disorders [RCV003236383] Chr13:27924337 [GRCh38]
Chr13:28498474 [GRCh37]
Chr13:13q12.2
likely pathogenic
NM_000209.4(PDX1):c.664G>A (p.Glu222Lys) single nucleotide variant not provided [RCV002288208] Chr13:27924513 [GRCh38]
Chr13:28498650 [GRCh37]
Chr13:13q12.2
uncertain significance
GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3 copy number gain not provided [RCV002291540] Chr13:19253848..115108937 [GRCh37]
Chr13:13q11-34
pathogenic
NM_000209.4(PDX1):c.677A>C (p.Asp226Ala) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002369344] Chr13:27924526 [GRCh38]
Chr13:28498663 [GRCh37]
Chr13:13q12.2
uncertain significance
NM_000209.4(PDX1):c.258C>T (p.Leu86=) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002437092] Chr13:27920396 [GRCh38]
Chr13:28494533 [GRCh37]
Chr13:13q12.2
likely benign
NM_000209.4(PDX1):c.816C>T (p.Ser272=) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002421474] Chr13:27924665 [GRCh38]
Chr13:28498802 [GRCh37]
Chr13:13q12.2
likely benign
NM_000209.4(PDX1):c.671_672dup (p.Gln225fs) duplication Maturity onset diabetes mellitus in young [RCV002367211] Chr13:27924518..27924519 [GRCh38]
Chr13:28498655..28498656 [GRCh37]
Chr13:13q12.2
likely pathogenic
NM_000209.4(PDX1):c.708G>C (p.Leu236=) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002367276] Chr13:27924557 [GRCh38]
Chr13:28498694 [GRCh37]
Chr13:13q12.2
likely benign
NM_000209.4(PDX1):c.288C>G (p.Pro96=) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002437893] Chr13:27920426 [GRCh38]
Chr13:28494563 [GRCh37]
Chr13:13q12.2
likely benign
NM_000209.4(PDX1):c.284C>A (p.Pro95Gln) single nucleotide variant not provided [RCV003149404] Chr13:27920422 [GRCh38]
Chr13:28494559 [GRCh37]
Chr13:13q12.2
uncertain significance
NM_000209.4(PDX1):c.124C>T (p.Pro42Ser) single nucleotide variant Pancreatic hypoplasia [RCV002464048] Chr13:27920262 [GRCh38]
Chr13:28494399 [GRCh37]
Chr13:13q12.2
uncertain risk allele
NM_000209.4(PDX1):c.395G>A (p.Gly132Asp) single nucleotide variant Pancreatic hypoplasia [RCV002464050] Chr13:27920533 [GRCh38]
Chr13:28494670 [GRCh37]
Chr13:13q12.2
uncertain risk allele
NM_000209.4(PDX1):c.279C>T (p.Pro93=) single nucleotide variant not provided [RCV002475249] Chr13:27920417 [GRCh38]
Chr13:28494554 [GRCh37]
Chr13:13q12.2
uncertain significance
NM_000209.4(PDX1):c.102G>A (p.Ala34=) single nucleotide variant not provided [RCV002475250] Chr13:27920240 [GRCh38]
Chr13:28494377 [GRCh37]
Chr13:13q12.2
uncertain significance
NM_000209.4(PDX1):c.77C>T (p.Pro26Leu) single nucleotide variant Pancreatic hypoplasia [RCV002463991] Chr13:27920215 [GRCh38]
Chr13:28494352 [GRCh37]
Chr13:13q12.2
uncertain significance
NM_000209.4(PDX1):c.82T>G (p.Phe28Val) single nucleotide variant Pancreatic hypoplasia [RCV002463992] Chr13:27920220 [GRCh38]
Chr13:28494357 [GRCh37]
Chr13:13q12.2
uncertain risk allele
NM_000209.4(PDX1):c.825G>C (p.Ala275=) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002430185]|not provided [RCV003738227] Chr13:27924674 [GRCh38]
Chr13:28498811 [GRCh37]
Chr13:13q12.2
likely benign
NM_000209.4(PDX1):c.217del (p.Leu73fs) deletion Maturity onset diabetes mellitus in young [RCV002432874]|not provided [RCV003098692] Chr13:27920349 [GRCh38]
Chr13:28494486 [GRCh37]
Chr13:13q12.2
likely pathogenic|uncertain significance
NM_000209.4(PDX1):c.694_697delinsAGCT (p.Gly232_Glu233delinsSerTer) indel not provided [RCV003233142] Chr13:27924543..27924546 [GRCh38]
Chr13:28498680..28498683 [GRCh37]
Chr13:13q12.2
uncertain significance
NM_000209.4(PDX1):c.593G>T (p.Arg198Leu) single nucleotide variant Maturity-onset diabetes of the young type 4 [RCV002308488]|not provided [RCV003099104] Chr13:27924442 [GRCh38]
Chr13:28498579 [GRCh37]
Chr13:13q12.2
uncertain significance
NM_000209.4(PDX1):c.231C>T (p.Pro77=) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002457556] Chr13:27920369 [GRCh38]
Chr13:28494506 [GRCh37]
Chr13:13q12.2
likely benign
NM_000209.4(PDX1):c.234G>T (p.Ala78=) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002448389] Chr13:27920372 [GRCh38]
Chr13:28494509 [GRCh37]
Chr13:13q12.2
likely benign
NM_000209.4(PDX1):c.569T>C (p.Ile190Thr) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002347538] Chr13:27924418 [GRCh38]
Chr13:28498555 [GRCh37]
Chr13:13q12.2
uncertain significance
NM_000209.4(PDX1):c.693C>G (p.Ser231=) single nucleotide variant Maturity onset diabetes mellitus in young [RCV003340536]|PDX1-related condition [RCV003961127]|not provided [RCV002756253] Chr13:27924542 [GRCh38]
Chr13:28498679 [GRCh37]
Chr13:13q12.2
likely benign
NM_000209.4(PDX1):c.528G>T (p.Arg176=) single nucleotide variant not provided [RCV002754961] Chr13:27924377 [GRCh38]
Chr13:28498514 [GRCh37]
Chr13:13q12.2
likely benign
NM_000209.4(PDX1):c.57G>C (p.Ala19=) single nucleotide variant not provided [RCV002705666] Chr13:27920195 [GRCh38]
Chr13:28494332 [GRCh37]
Chr13:13q12.2
likely benign
NM_000209.4(PDX1):c.759C>T (p.Pro253=) single nucleotide variant not provided [RCV002596777] Chr13:27924608 [GRCh38]
Chr13:28498745 [GRCh37]
Chr13:13q12.2
likely benign
NM_000209.4(PDX1):c.97C>T (p.Pro33Ser) single nucleotide variant not provided [RCV002573844]|not specified [RCV003331374] Chr13:27920235 [GRCh38]
Chr13:28494372 [GRCh37]
Chr13:13q12.2
uncertain significance
NM_000209.4(PDX1):c.184C>T (p.Pro62Ser) single nucleotide variant not provided [RCV003007714] Chr13:27920322 [GRCh38]
Chr13:28494459 [GRCh37]
Chr13:13q12.2
uncertain significance
NM_000209.4(PDX1):c.117C>T (p.Gly39=) single nucleotide variant not provided [RCV002667206] Chr13:27920255 [GRCh38]
Chr13:28494392 [GRCh37]
Chr13:13q12.2
likely benign
NM_000209.4(PDX1):c.757C>T (p.Pro253Ser) single nucleotide variant not provided [RCV003049433] Chr13:27924606 [GRCh38]
Chr13:28498743 [GRCh37]
Chr13:13q12.2
uncertain significance
NM_000209.4(PDX1):c.92G>A (p.Ser31Asn) single nucleotide variant not provided [RCV003090408] Chr13:27920230 [GRCh38]
Chr13:28494367 [GRCh37]
Chr13:13q12.2
uncertain significance
NM_000209.4(PDX1):c.428C>G (p.Pro143Arg) single nucleotide variant PDX1-related condition [RCV003420332]|not provided [RCV003088086] Chr13:27924277 [GRCh38]
Chr13:28498414 [GRCh37]
Chr13:13q12.2
uncertain significance
NM_000209.4(PDX1):c.229C>T (p.Pro77Ser) single nucleotide variant not provided [RCV002635159] Chr13:27920367 [GRCh38]
Chr13:28494504 [GRCh37]
Chr13:13q12.2
likely benign
NM_000209.4(PDX1):c.723G>A (p.Pro241=) single nucleotide variant not provided [RCV002606974] Chr13:27924572 [GRCh38]
Chr13:28498709 [GRCh37]
Chr13:13q12.2
likely benign
NM_000209.4(PDX1):c.128CGC[6] (p.Pro47_His48insPro) microsatellite Maturity onset diabetes mellitus in young [RCV003294641]|not provided [RCV003142662] Chr13:27920264..27920265 [GRCh38]
Chr13:28494401..28494402 [GRCh37]
Chr13:13q12.2
likely benign|uncertain significance
NM_000209.4(PDX1):c.190G>T (p.Asp64Tyr) single nucleotide variant Maturity onset diabetes mellitus in young [RCV003187855] Chr13:27920328 [GRCh38]
Chr13:28494465 [GRCh37]
Chr13:13q12.2
uncertain significance
NM_000209.4(PDX1):c.363G>T (p.Trp121Cys) single nucleotide variant Maturity-onset diabetes of the young type 4 [RCV003329144] Chr13:27920501 [GRCh38]
Chr13:28494638 [GRCh37]
Chr13:13q12.2
uncertain significance
NM_000209.4(PDX1):c.641C>T (p.Ala214Val) single nucleotide variant PDX1-related condition [RCV003397276] Chr13:27924490 [GRCh38]
Chr13:28498627 [GRCh37]
Chr13:13q12.2
uncertain significance
NM_000209.4(PDX1):c.707del (p.Leu236fs) deletion not provided [RCV003325830] Chr13:27924556 [GRCh38]
Chr13:28498693 [GRCh37]
Chr13:13q12.2
uncertain significance
NM_000209.4(PDX1):c.653del (p.Gly218fs) deletion PDX1-related condition [RCV003419102] Chr13:27924501 [GRCh38]
Chr13:28498638 [GRCh37]
Chr13:13q12.2
likely pathogenic
NM_000209.4(PDX1):c.735dup (p.Gly246fs) duplication Maturity-onset diabetes of the young type 4 [RCV003444069] Chr13:27924583..27924584 [GRCh38]
Chr13:28498720..28498721 [GRCh37]
Chr13:13q12.2
likely pathogenic
NM_000209.4(PDX1):c.634G>A (p.Gly212Arg) single nucleotide variant PDX1-related condition [RCV003410398] Chr13:27924483 [GRCh38]
Chr13:28498620 [GRCh37]
Chr13:13q12.2
uncertain significance
NM_000209.4(PDX1):c.527G>A (p.Arg176Gln) single nucleotide variant PDX1-related condition [RCV003410816] Chr13:27924376 [GRCh38]
Chr13:28498513 [GRCh37]
Chr13:13q12.2
uncertain significance
NM_000209.4(PDX1):c.448C>T (p.Arg150Cys) single nucleotide variant PDX1-related condition [RCV003402586] Chr13:27924297 [GRCh38]
Chr13:28498434 [GRCh37]
Chr13:13q12.2
uncertain significance
NM_000209.4(PDX1):c.206A>G (p.Glu69Gly) single nucleotide variant PDX1-related condition [RCV003402556] Chr13:27920344 [GRCh38]
Chr13:28494481 [GRCh37]
Chr13:13q12.2
uncertain significance
NM_000209.4(PDX1):c.655G>A (p.Gly219Arg) single nucleotide variant not provided [RCV003545857] Chr13:27924504 [GRCh38]
Chr13:28498641 [GRCh37]
Chr13:13q12.2
uncertain significance
NM_000209.4(PDX1):c.140C>T (p.Pro47Leu) single nucleotide variant not provided [RCV003663123] Chr13:27920278 [GRCh38]
Chr13:28494415 [GRCh37]
Chr13:13q12.2
uncertain significance
NM_000209.4(PDX1):c.715_716insGGC (p.Leu238_Pro239insArg) insertion not provided [RCV003693842] Chr13:27924562..27924563 [GRCh38]
Chr13:28498699..28498700 [GRCh37]
Chr13:13q12.2
uncertain significance
NM_000209.4(PDX1):c.587A>C (p.Asn196Thr) single nucleotide variant not provided [RCV003687612] Chr13:27924436 [GRCh38]
Chr13:28498573 [GRCh37]
Chr13:13q12.2
uncertain significance
NM_000209.4(PDX1):c.175C>A (p.Gln59Lys) single nucleotide variant not provided [RCV003714520] Chr13:27920313 [GRCh38]
Chr13:28494450 [GRCh37]
Chr13:13q12.2
uncertain significance
NM_000209.4(PDX1):c.592C>A (p.Arg198Ser) single nucleotide variant not provided [RCV003687610] Chr13:27924441 [GRCh38]
Chr13:28498578 [GRCh37]
Chr13:13q12.2
uncertain significance
NM_000209.4(PDX1):c.522G>A (p.Pro174=) single nucleotide variant not provided [RCV003696776] Chr13:27924371 [GRCh38]
Chr13:28498508 [GRCh37]
Chr13:13q12.2
likely benign
NM_000209.4(PDX1):c.62A>T (p.Gln21Leu) single nucleotide variant not provided [RCV003670912] Chr13:27920200 [GRCh38]
Chr13:28494337 [GRCh37]
Chr13:13q12.2
uncertain significance
NM_000209.4(PDX1):c.534G>T (p.Glu178Asp) single nucleotide variant not provided [RCV003666735] Chr13:27924383 [GRCh38]
Chr13:28498520 [GRCh37]
Chr13:13q12.2
uncertain significance
NM_000209.4(PDX1):c.217C>G (p.Leu73Val) single nucleotide variant not provided [RCV003834266] Chr13:27920355 [GRCh38]
Chr13:28494492 [GRCh37]
Chr13:13q12.2
uncertain significance
NM_000209.4(PDX1):c.318G>A (p.Pro106=) single nucleotide variant not provided [RCV003705248] Chr13:27920456 [GRCh38]
Chr13:28494593 [GRCh37]
Chr13:13q12.2
likely benign
NM_000209.4(PDX1):c.112A>T (p.Met38Leu) single nucleotide variant not provided [RCV003734352] Chr13:27920250 [GRCh38]
Chr13:28494387 [GRCh37]
Chr13:13q12.2
uncertain significance
NM_000209.4(PDX1):c.738T>C (p.Gly246=) single nucleotide variant not provided [RCV003861556] Chr13:27924587 [GRCh38]
Chr13:28498724 [GRCh37]
Chr13:13q12.2
likely benign
GRCh37/hg19 13q12.12-12.2(chr13:23329180-28663294)x3 copy number gain not specified [RCV003987034] Chr13:23329180..28663294 [GRCh37]
Chr13:13q12.12-12.2
uncertain significance
NM_000209.4(PDX1):c.558C>G (p.Thr186=) single nucleotide variant not provided [RCV003842627] Chr13:27924407 [GRCh38]
Chr13:28498544 [GRCh37]
Chr13:13q12.2
likely benign
NM_000209.4(PDX1):c.407-19C>A single nucleotide variant not provided [RCV003847212] Chr13:27924237 [GRCh38]
Chr13:28498374 [GRCh37]
Chr13:13q12.2
likely benign
NM_000209.4(PDX1):c.378A>C (p.Lys126Asn) single nucleotide variant not provided [RCV003679395] Chr13:27920516 [GRCh38]
Chr13:28494653 [GRCh37]
Chr13:13q12.2
uncertain significance
NM_000209.4(PDX1):c.165C>T (p.Gly55=) single nucleotide variant PDX1-related condition [RCV003981799] Chr13:27920303 [GRCh38]
Chr13:28494440 [GRCh37]
Chr13:13q12.2
likely benign
NM_000209.4(PDX1):c.-35_-22del deletion PDX1-related condition [RCV003901491] Chr13:27920104..27920117 [GRCh38]
Chr13:28494241..28494254 [GRCh37]
Chr13:13q12.2
uncertain significance
NM_000209.4(PDX1):c.-25C>T single nucleotide variant PDX1-related condition [RCV003962211] Chr13:27920114 [GRCh38]
Chr13:28494251 [GRCh37]
Chr13:13q12.2
likely benign
NM_000209.4(PDX1):c.636G>C (p.Gly212=) single nucleotide variant PDX1-related condition [RCV003969512] Chr13:27924485 [GRCh38]
Chr13:28498622 [GRCh37]
Chr13:13q12.2
likely benign
NM_000209.4(PDX1):c.495C>T (p.Phe165=) single nucleotide variant PDX1-related condition [RCV003904708] Chr13:27924344 [GRCh38]
Chr13:28498481 [GRCh37]
Chr13:13q12.2
likely benign
NM_000209.4(PDX1):c.300C>T (p.Phe100=) single nucleotide variant PDX1-related condition [RCV003894672] Chr13:27920438 [GRCh38]
Chr13:28494575 [GRCh37]
Chr13:13q12.2
likely benign
NM_000209.4(PDX1):c.786G>T (p.Pro262=) single nucleotide variant PDX1-related condition [RCV003934503] Chr13:27924635 [GRCh38]
Chr13:28498772 [GRCh37]
Chr13:13q12.2
likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:824
Count of miRNA genes:455
Interacting mature miRNAs:488
Transcripts:ENST00000381033
Prediction methods: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
G05158  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371328,494,187 - 28,494,329UniSTSGRCh37
Build 361327,392,187 - 27,392,329RGDNCBI36
Celera139,568,898 - 9,569,040RGD
Cytogenetic Map13q12.1UniSTS
HuRef139,314,272 - 9,314,414UniSTS
RH79140  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371328,499,140 - 28,499,292UniSTSGRCh37
Build 361327,397,140 - 27,397,292RGDNCBI36
Celera139,573,851 - 9,574,003RGD
Cytogenetic Map13q12.1UniSTS
HuRef139,319,225 - 9,319,377UniSTS
GeneMap99-GB4 RH Map1382.26UniSTS
NCBI RH Map13178.2UniSTS


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 112 21 20 36 20 1 9 26
Low 214 3 127 125 302 131 15 14 11 20 74 92 3 4 3
Below cutoff 857 409 470 273 317 251 656 295 512 53 542 281 23 227 417

Sequence


RefSeq Acc Id: ENST00000381033   ⟹   ENSP00000370421
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1327,920,000 - 27,926,313 (+)Ensembl
RefSeq Acc Id: NM_000209   ⟹   NP_000200
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381327,920,000 - 27,926,313 (+)NCBI
GRCh371328,494,168 - 28,500,451 (+)ENTREZGENE
Build 361327,392,157 - 27,397,394 (+)NCBI Archive
HuRef139,314,253 - 9,320,535 (+)NCBI
CHM1_11328,462,445 - 28,468,728 (+)NCBI
T2T-CHM13v2.01327,141,129 - 27,147,442 (+)NCBI
Sequence:
RefSeq Acc Id: NP_000200   ⟸   NM_000209
- UniProtKB: O60594 (UniProtKB/Swiss-Prot),   Q5VYW2 (UniProtKB/Swiss-Prot),   P52945 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000370421   ⟸   ENST00000381033

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P52945-F1-model_v2 AlphaFold P52945 1-283 view protein structure

Promoters
RGD ID:6791002
Promoter ID:HG_KWN:17386
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:ENST00000381033
Position:
Human AssemblyChrPosition (strand)Source
Build 361327,391,891 - 27,392,391 (+)MPROMDB
RGD ID:7226109
Promoter ID:EPDNEW_H18800
Type:initiation region
Name:PDX1_1
Description:pancreatic and duodenal homeobox 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381327,920,000 - 27,920,060EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6107 AgrOrtholog
COSMIC PDX1 COSMIC
Ensembl Genes ENSG00000139515 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000381033 ENTREZGENE
  ENST00000381033.5 UniProtKB/Swiss-Prot
Gene3D-CATH Homeodomain-like UniProtKB/Swiss-Prot
GTEx ENSG00000139515 GTEx
HGNC ID HGNC:6107 ENTREZGENE
Human Proteome Map PDX1 Human Proteome Map
InterPro Homeobox-like_sf UniProtKB/Swiss-Prot
  Homeobox_antennapedia UniProtKB/Swiss-Prot
  Homeobox_CS UniProtKB/Swiss-Prot
  Homeobox_dom UniProtKB/Swiss-Prot
  Homeobox_metazoa UniProtKB/Swiss-Prot
KEGG Report hsa:3651 UniProtKB/Swiss-Prot
NCBI Gene 3651 ENTREZGENE
OMIM 600733 OMIM
PANTHER PANCREAS/DUODENUM HOMEOBOX PROTEIN 1 UniProtKB/Swiss-Prot
  PROTEIN ZERKNUELLT 1-RELATED UniProtKB/Swiss-Prot
Pfam Homeodomain UniProtKB/Swiss-Prot
PharmGKB PA162399173 PharmGKB
PRINTS ANTENNAPEDIA UniProtKB/Swiss-Prot
  HOMEOBOX UniProtKB/Swiss-Prot
PROSITE HOMEOBOX_1 UniProtKB/Swiss-Prot
  HOMEOBOX_2 UniProtKB/Swiss-Prot
SMART HOX UniProtKB/Swiss-Prot
Superfamily-SCOP SSF46689 UniProtKB/Swiss-Prot
UniProt O60594 ENTREZGENE
  P52945 ENTREZGENE, UniProtKB/Swiss-Prot
  Q5VYW2 ENTREZGENE
UniProt Secondary O60594 UniProtKB/Swiss-Prot
  Q5VYW2 UniProtKB/Swiss-Prot