TFF1 (trefoil factor 1) - Rat Genome Database

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Gene: TFF1 (trefoil factor 1) Homo sapiens
Analyze
Symbol: TFF1
Name: trefoil factor 1
RGD ID: 1344671
HGNC Page HGNC:11755
Description: Predicted to enable growth factor activity. Predicted to be involved in maintenance of gastrointestinal epithelium. Predicted to act upstream of or within cell differentiation and negative regulation of cell population proliferation. Predicted to be located in extracellular region. Predicted to be active in extracellular space. Biomarker of carcinoma (multiple); ductal carcinoma in situ; endometrial hyperplasia; reproductive organ cancer (multiple); and urinary bladder cancer.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: BCEI; breast cancer estrogen-inducible protein; breast cancer estrogen-inducible sequence; D21S21; gastrointestinal trefoil protein pS2; HP1.A; HPS2; pNR-2; polypeptide P1.A; pS2; trefoil factor 1 (breast cancer, estrogen-inducible sequence expressed in)
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Pig
Green Monkey
Black Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382142,362,282 - 42,366,535 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2142,362,282 - 42,366,535 (-)Ensemblhg38GRCh38
GRCh372143,782,391 - 43,786,644 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362142,655,460 - 42,659,713 (-)NCBIBuild 36Build 36hg18NCBI36
Build 342142,655,459 - 42,659,713NCBI
Celera2128,931,367 - 28,935,619 (-)NCBICelera
Cytogenetic Map21q22.3NCBI
HuRef2129,199,645 - 29,203,896 (-)NCBIHuRef
CHM1_12143,342,564 - 43,346,817 (-)NCBICHM1_1
T2T-CHM13v2.02140,751,729 - 40,755,982 (-)NCBIT2T-CHM13v2.0
JBrowse:




Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(20S)-ginsenoside Rh1  (EXP)
(25R)-cholest-5-ene-3beta,26-diol  (EXP)
(3-phenoxyphenyl)methanol  (EXP)
1,1,1-trichloro-2,2-bis(4-hydroxyphenyl)ethane  (EXP)
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (EXP)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-(3-(trifluoromethyl)phenyl)piperazine  (EXP)
1-benzylpiperazine  (EXP)
14-Deoxy-11,12-didehydroandrographolide  (EXP)
17alpha-ethynylestradiol  (EXP,ISO)
17beta-estradiol  (EXP,ISO)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4,6-tribromophenol  (EXP)
2,4-Dihydroxybenzophenone  (EXP)
2-acetamidofluorene  (ISO)
26-hydroxycholesterol  (EXP)
3',5'-cyclic AMP  (EXP)
3,3',4,4'-tetrachlorobiphenyl  (EXP)
3,3',5,5'-tetrabromobisphenol A  (EXP)
3,3'-diindolylmethane  (EXP)
3,3,4,4,5,5,6,6,7,7,8,8,9,9,10,10,10-heptadecafluoro-1-decanol  (EXP)
3-\{1-[3-(dimethylamino)propyl]-1H-indol-3-yl\}-4-(1H-indol-3-yl)-1H-pyrrole-2,5-dione  (EXP)
3-methylcholanthrene  (EXP)
3-phenoxybenzoic acid  (EXP)
4,4'-sulfonyldiphenol  (ISO)
4-(5,6,7,8-tetrahydroimidazo[1,5-a]pyridin-5-yl)benzonitrile  (EXP)
4-hydroxy-17beta-estradiol  (EXP)
4-nonylphenol  (EXP)
4-tert-butylphenol  (EXP)
4-tert-Octylphenol  (EXP)
5-aza-2'-deoxycytidine  (EXP)
5-fluorouracil  (EXP)
6-propyl-2-thiouracil  (ISO)
adenine  (EXP)
afimoxifene  (EXP)
alpha-mangostin  (EXP)
alpha-Zearalanol  (EXP)
amitrole  (ISO)
ammonium chloride  (ISO)
amphotericin B  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
atrazine  (EXP)
belinostat  (EXP)
benzamide  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
Benzo[k]fluoranthene  (ISO)
benzyl benzoate  (EXP)
Benzyl salicylate  (EXP)
beta-hexachlorocyclohexane  (EXP)
beta-lapachone  (EXP)
beta-naphthoflavone  (ISO)
bifenthrin  (EXP)
biphenyl-4-ol  (EXP)
bisphenol A  (EXP,ISO)
bisphenol AF  (EXP)
butanal  (EXP)
Butylbenzyl phthalate  (EXP)
Butylparaben  (EXP)
cadmium atom  (EXP)
cadmium dichloride  (ISO)
calcitriol  (EXP)
camptothecin  (EXP)
capecitabine  (EXP)
captafol  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chlordecone  (EXP)
choline  (ISO)
chromium(6+)  (ISO)
chrysin  (EXP)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
copper(II) sulfate  (EXP)
coumestrol  (EXP)
Cuprizon  (ISO)
cycloheximide  (EXP)
cyclosporin A  (EXP)
cyhalothrin  (EXP)
cypermethrin  (EXP)
cyprodinil  (EXP)
daidzein  (EXP)
DDE  (EXP)
DDT  (EXP)
deoxynivalenol  (EXP)
dexamethasone  (EXP)
diarsenic trioxide  (EXP)
diarylheptanoid  (EXP)
dibutyl phthalate  (EXP,ISO)
diethylstilbestrol  (EXP,ISO)
doxifluridine  (EXP)
doxorubicin  (EXP)
endosulfan  (EXP)
Enterolactone  (EXP)
entinostat  (EXP)
enzacamene  (EXP)
equilin  (EXP)
equol  (EXP)
estriol  (EXP)
estrone  (EXP)
ethylparaben  (EXP)
exemestane  (EXP)
fenvalerate  (EXP)
flumethrin  (EXP)
Flumetralin  (EXP)
flutolanil  (EXP)
folic acid  (ISO)
fulvestrant  (EXP)
genistein  (EXP)
ginsenoside Re  (EXP)
ginsenoside Rg1  (EXP)
Goe 6976  (EXP)
Heptachlor epoxide  (EXP)
hexadecanoic acid  (EXP)
hexestrol  (EXP)
hydrogen peroxide  (EXP)
icariin  (EXP)
ICI-164384  (EXP)
Indeno[1,2,3-cd]pyrene  (EXP)
indole-3-methanol  (EXP)
indometacin  (ISO)
irinotecan  (ISO)
iron atom  (ISO)
iron(0)  (ISO)
Isobavachin  (EXP)
isoprothiolane  (EXP)
isorhamnetin  (EXP)
kaempferol  (EXP)
ketoconazole  (EXP)
L-methionine  (ISO)
linuron  (EXP)
lipopolysaccharide  (EXP)
lycopene  (EXP)
melatonin  (EXP)
menadione  (EXP)
methimazole  (ISO)
methoxychlor  (EXP)
methylparaben  (EXP)
methylseleninic acid  (EXP)
methyltestosterone  (EXP)
molibresib  (EXP)
Moxestrol  (EXP)
N-nitrosodiethylamine  (ISO)
nandrolone  (EXP)
naphthalene  (ISO)
nilotinib  (ISO)
Nonylphenol  (EXP,ISO)
Norethynodrel  (EXP)
ospemifene  (EXP)
oxazepam  (ISO)
oxybenzone  (EXP)
ozone  (EXP)
p-tert-Amylphenol  (EXP)
paclitaxel  (EXP)
perfluorobutanesulfonic acid  (EXP)
perfluorobutyric acid  (EXP)
perfluorohexanesulfonic acid  (EXP)
perfluorooctane-1-sulfonic acid  (EXP)
perfluorooctanoic acid  (EXP)
perfluoropentanoic acid  (EXP)
permethrin  (EXP)
phenothrin  (EXP)
phorbol 13-acetate 12-myristate  (EXP)
phytoestrogen  (EXP)
pirinixic acid  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
progesterone  (EXP)
propylparaben  (EXP)
pyrimethanil  (EXP)
quercetin  (EXP)
raloxifene  (EXP)
reserpine  (EXP)
resveratrol  (EXP)
rosuvastatin calcium  (ISO)
rottlerin  (EXP)
royal jelly  (EXP)
S-adenosyl-L-methioninate  (EXP)
S-adenosyl-L-methionine  (EXP)
SB 203580  (EXP)
silicon dioxide  (EXP)
silver atom  (EXP)
silver(0)  (EXP)
sodium arsenite  (EXP,ISO)
sodium dichromate  (ISO)
sophoraflavanone B  (EXP)
spironolactone  (EXP)
stilbene-4,4'-diol  (EXP)
SU6656  (EXP)
Sunset Yellow FCF  (EXP)
tamoxifen  (EXP,ISO)
tartrazine  (EXP)
testosterone  (EXP)
Tetrachlorobisphenol A  (EXP,ISO)
tetraphene  (EXP,ISO)
tetrathiomolybdate(2-)  (EXP)
titanium dioxide  (ISO)
toxaphene  (EXP)
trans-stilbene-4,4'-diol  (EXP)
trichostatin A  (EXP)
triclocarban  (EXP)
triclosan  (EXP)
tris(2-butoxyethyl) phosphate  (EXP)
valproic acid  (EXP)
wortmannin  (EXP,ISO)
xanthohumol  (EXP)
zearalenone  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
extracellular region  (IEA,TAS)
extracellular space  (IBA,IEA,ISO)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Differential RNA expression of the pS2 gene in the human benign and malignant prostatic tissue. Colombel M, etal., J Urol. 1999 Sep;162(3 Pt 1):927-30.
2. Cytosolic levels of TFF1/pS2 in breast cancer: Their relationship with clinical-pathological parameters and their prognostic significance. Corte MD, etal., Breast Cancer Res Treat. 2006 Mar;96(1):63-72. Epub 2005 Nov 3.
3. Gastric TFF1 Expression from Acute to Chronic Helicobacter Infection. Esposito R, etal., Front Cell Infect Microbiol. 2017 Oct 9;7:434. doi: 10.3389/fcimb.2017.00434. eCollection 2017.
4. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
5. cDNA cloning of rat pS2 peptide and expression of trefoil peptides in acetic acid-induced colitis. Itoh H, etal., Biochem J 1996 Sep 15;318 ( Pt 3):939-44.
6. Effect of omeprazole-induced achlorhydria on trefoil peptide expression in the rat stomach. Kang B, etal., J Gastroenterol Hepatol. 2001 Nov;16(11):1222-7.
7. Expression of pS2 protein in endometrial carcinomas: correlation with clinicopathologic features and sex steroid receptor status. Koshiyama M, etal., Int J Cancer. 1997 Jun 20;74(3):237-44.
8. Tumor-associated neoexpression of the pS2 peptide and MUC5AC mucin in primary adenocarcinomas and signet ring cell carcinomas of the urinary bladder. Kunze E, etal., Histol Histopathol. 2008 May;23(5):539-48.
9. Expression of pS2 protein in transitional cell bladder tumours. Lipponen PK and Eskelinen MJ, J Pathol. 1994 Aug;173(4):327-32.
10. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
11. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
12. Estrogen receptor alpha and beta, progesterone receptor, pS2 and HER-2/neu expression delineate different subgroups in ductal carcinoma in situ of the breast. Rody A, etal., Oncol Rep. 2004 Oct;12(4):695-9.
13. Changes in expression of estrogen receptors alpha and beta in relation to progesterone receptor and pS2 status in normal and malignant endometrium. Saegusa M and Okayasu I, Jpn J Cancer Res. 2000 May;91(5):510-8.
14. Up-regulation of pS2 expression during the development of adenocarcinomas but not squamous cell carcinomas of the uterine cervix, independently of expression of c-jun or oestrogen and progesterone receptors. Saegusa M, etal., J Pathol. 2000 Apr;190(5):554-63.
15. pS2 and PAI-1 in ovarian cancer: correlation to pathohistological parameters. Speiser P, etal., Anticancer Res. 1997 Jan-Feb;17(1B):679-83.
16. Spatio-temporal expression of trefoil peptide following severe gastric ulceration in the rat implicates it in late-stage repair processes. Ulaganathan M, etal., J Gastroenterol Hepatol. 2001 May;16(5):506-12.
17. Plasma levels of trefoil factors are increased in patients with advanced prostate cancer. Vestergaard EM, etal., Clin Cancer Res. 2006 Feb 1;12(3 Pt 1):807-12.
18. Estrogen-regulated gene expression predicts response to endocrine therapy in patients with ovarian cancer. Walker G, etal., Gynecol Oncol. 2007 Sep;106(3):461-8. Epub 2007 Jul 10.
Additional References at PubMed
PMID:1707960   PMID:2185238   PMID:2303034   PMID:2311759   PMID:3041593   PMID:3146413   PMID:3261981   PMID:3822834   PMID:3838275   PMID:6324130   PMID:8405856   PMID:8521850  
PMID:9043862   PMID:9070946   PMID:9096235   PMID:9355742   PMID:9582279   PMID:9855711   PMID:10490106   PMID:10673290   PMID:10830953   PMID:10950923   PMID:10982763   PMID:12034770  
PMID:12379766   PMID:12407144   PMID:12477932   PMID:12613926   PMID:14563942   PMID:14756547   PMID:15019994   PMID:15115253   PMID:15123808   PMID:15177868   PMID:15304487   PMID:15339660  
PMID:15340161   PMID:15345777   PMID:15489334   PMID:15541729   PMID:15578191   PMID:15694343   PMID:15821928   PMID:15831516   PMID:15849833   PMID:15924415   PMID:15967118   PMID:15989967  
PMID:16009131   PMID:16142311   PMID:16142316   PMID:16189514   PMID:16308573   PMID:16341674   PMID:16474375   PMID:16713569   PMID:16715141   PMID:16718800   PMID:16830362   PMID:16861234  
PMID:17143957   PMID:17317669   PMID:17610997   PMID:17651883   PMID:17982272   PMID:18313384   PMID:18322525   PMID:18502057   PMID:18515572   PMID:18543253   PMID:18644870   PMID:18662686  
PMID:18676680   PMID:18722547   PMID:18846421   PMID:18927283   PMID:19132993   PMID:19170196   PMID:19172291   PMID:19172695   PMID:19589871   PMID:19625176   PMID:19692168   PMID:19724895  
PMID:19851296   PMID:20063012   PMID:20112343   PMID:20132413   PMID:20198315   PMID:20213275   PMID:20300195   PMID:20494980   PMID:20981699   PMID:21067798   PMID:21111741   PMID:21228366  
PMID:21358676   PMID:21378170   PMID:21451135   PMID:21472131   PMID:21490402   PMID:21747314   PMID:21870107   PMID:21873635   PMID:21946330   PMID:21982860   PMID:22093877   PMID:22158540  
PMID:22286382   PMID:22382029   PMID:22642590   PMID:22842654   PMID:22944057   PMID:22983508   PMID:23266572   PMID:23291975   PMID:23329884   PMID:23627615   PMID:23675462   PMID:23836323  
PMID:23942618   PMID:24162262   PMID:24236136   PMID:24486742   PMID:24503794   PMID:24733740   PMID:24798994   PMID:24843314   PMID:25015107   PMID:25199519   PMID:25223786   PMID:25416956  
PMID:25486181   PMID:25640309   PMID:25652124   PMID:25980439   PMID:25990322   PMID:26240291   PMID:26240479   PMID:26276775   PMID:26372254   PMID:26390128   PMID:26617749   PMID:27522676  
PMID:27921407   PMID:28150071   PMID:28430953   PMID:28481041   PMID:28687783   PMID:29210057   PMID:29296124   PMID:29453320   PMID:29809170   PMID:29850501   PMID:29997345   PMID:30035371  
PMID:30083861   PMID:30333090   PMID:30431719   PMID:30612555   PMID:31292446   PMID:31432157   PMID:31455213   PMID:31500233   PMID:31683988   PMID:31817054   PMID:31961997   PMID:31986408  
PMID:32237253   PMID:32260357   PMID:32296183   PMID:32391824   PMID:32404934   PMID:33249323   PMID:33660336   PMID:33673347   PMID:34058470   PMID:34219206   PMID:34242119   PMID:34424807  
PMID:34431541   PMID:35279702   PMID:35315403   PMID:35987613   PMID:36057754   PMID:36514982   PMID:36758349   PMID:37437926  


Genomics

Comparative Map Data
TFF1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382142,362,282 - 42,366,535 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2142,362,282 - 42,366,535 (-)Ensemblhg38GRCh38
GRCh372143,782,391 - 43,786,644 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362142,655,460 - 42,659,713 (-)NCBIBuild 36Build 36hg18NCBI36
Build 342142,655,459 - 42,659,713NCBI
Celera2128,931,367 - 28,935,619 (-)NCBICelera
Cytogenetic Map21q22.3NCBI
HuRef2129,199,645 - 29,203,896 (-)NCBIHuRef
CHM1_12143,342,564 - 43,346,817 (-)NCBICHM1_1
T2T-CHM13v2.02140,751,729 - 40,755,982 (-)NCBIT2T-CHM13v2.0
Tff1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391731,380,369 - 31,384,034 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1731,380,369 - 31,384,251 (-)EnsemblGRCm39 EnsemblGRCm39
GRCm381731,161,395 - 31,165,060 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1731,161,395 - 31,165,277 (-)Ensemblmm10GRCm38
MGSCv371731,298,341 - 31,301,998 (-)NCBIMGSCv37MGSCv37mm9NCBIm37
MGSCv361730,888,408 - 30,892,034 (-)NCBIMGSCv36mm8
Celera1732,078,643 - 32,082,300 (-)NCBICelera
Cytogenetic Map17A3.3NCBI
cM Map1715.8NCBI
Tff1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8209,237,095 - 9,240,956 (-)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl209,237,095 - 9,240,956 (-)EnsemblGRCr8
mRatBN7.2209,235,736 - 9,239,597 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl209,235,736 - 9,239,597 (-)EnsemblmRatBN7.2
UTH_Rnor_SHR_Utx209,930,565 - 9,934,421 (-)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0209,291,735 - 9,295,591 (-)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0209,766,849 - 9,770,721 (-)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0209,892,124 - 9,895,984 (-)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl209,892,124 - 9,895,984 (-)Ensemblrn6Rnor6.0
Rnor_5.02012,071,835 - 12,075,695 (-)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.4209,526,674 - 9,530,534 (-)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera2010,760,042 - 10,763,903 (-)NCBICelera
RGSC_v3.1209,526,900 - 9,530,761 (-)NCBI
Cytogenetic Map20p12NCBI
Tff1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495540739,363,693 - 39,365,724 (+)NCBIChiLan1.0ChiLan1.0
TFF1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22238,417,954 - 38,422,193 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12133,270,372 - 33,274,614 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02128,669,323 - 28,673,556 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12141,988,039 - 41,992,270 (-)NCBIPanPan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2141,988,039 - 41,992,270 (-)EnsemblpanPan2panpan1.1
TFF1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13136,681,478 - 36,684,571 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3136,681,357 - 36,695,665 (-)EnsemblcanFam3CanFam3.1
Dog10K_Boxer_Tasha3135,832,379 - 35,835,472 (-)NCBIDog10K_Boxer_TashaDog10K_Boxer_Tasha
ROS_Cfam_1.03136,197,946 - 36,201,048 (-)NCBIROS_Cfam_1.0ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3136,197,825 - 36,201,061 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13136,090,916 - 36,094,013 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03136,071,100 - 36,074,201 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03136,566,194 - 36,569,306 (-)NCBIUU_Cfam_GSD_1.0UU_Cfam_GSD_1.0
TFF1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl13205,687,560 - 205,691,460 (-)EnsemblsusScr11Sscrofa11.1
Sscrofa11.113205,687,558 - 205,691,512 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.213216,090,047 - 216,093,946 (-)NCBISscrofa10.2Sscrofa10.2susScr3
TFF1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1286,239,101 - 86,244,491 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl286,239,105 - 86,243,795 (-)EnsemblChlSab1.1 EnsemblchlSab2Vervet-AGM
Vero_WHO_p1.0NW_02366605414,199,648 - 14,204,451 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Tff1
(Rattus rattus - black rat)
Black Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rrattus_CSIRO_v1182,714,155 - 2,717,891 (+)NCBIRrattus_CSIRO_v1

Variants

.
Variants in TFF1
13 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 21q22.3(chr21:42232926-46670405)x1 copy number loss See cases [RCV000050746] Chr21:42232926..46670405 [GRCh38]
Chr21:43653036..48090317 [GRCh37]
Chr21:42526105..46914745 [NCBI36]
Chr21:21q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000050445] Chr21:7749532..46670405 [GRCh38]
Chr21:15499847..48090317 [GRCh37]
Chr21:14421718..46914745 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 21q22.3(chr21:41285201-46670405)x1 copy number loss See cases [RCV000051022] Chr21:41285201..46670405 [GRCh38]
Chr21:42657128..48090317 [GRCh37]
Chr21:41578998..46914745 [NCBI36]
Chr21:21q22.3		 pathogenic
GRCh38/hg38 21q22.13-22.3(chr21:37135738-42434515)x1 copy number loss See cases [RCV000051047] Chr21:37135738..42434515 [GRCh38]
Chr21:38508038..43854625 [GRCh37]
Chr21:37429908..42727694 [NCBI36]
Chr21:21q22.13-22.3		 pathogenic
GRCh37/hg19 21q22.1-22.3(chr21:35527952-44298520)x1 copy number loss See cases [RCV000052807] Chr21:35527952..44298520 [GRCh37]
Chr21:34449822..43171589 [NCBI36]
Chr21:21q22.1-22.3		 pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:35027972-46670405)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052836]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052836]|See cases [RCV000052836] Chr21:35027972..46670405 [GRCh38]
Chr21:36400269..48090317 [GRCh37]
Chr21:35322139..46914745 [NCBI36]
Chr21:21q22.12-22.3		 pathogenic
GRCh38/hg38 21q22.13-22.3(chr21:38273492-46670405)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052838]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052838]|See cases [RCV000052838] Chr21:38273492..46670405 [GRCh38]
Chr21:39645414..48090317 [GRCh37]
Chr21:38567284..46914745 [NCBI36]
Chr21:21q22.13-22.3		 pathogenic
GRCh38/hg38 21q22.2-22.3(chr21:40127825-46670546)x1 copy number loss See cases [RCV000052839] Chr21:40127825..46670546 [GRCh38]
Chr21:41499752..48090458 [GRCh37]
Chr21:40421622..46914886 [NCBI36]
Chr21:21q22.2-22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053042] Chr21:7749532..46623792 [GRCh38]
Chr21:14595524..48043704 [GRCh37]
Chr21:13517395..46868132 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053043] Chr21:7749532..46623792 [GRCh38]
Chr21:14629063..48043704 [GRCh37]
Chr21:13550934..46868132 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670546)x3 copy number gain See cases [RCV000053045] Chr21:7749532..46670546 [GRCh38]
Chr21:15499647..48090458 [GRCh37]
Chr21:14421518..46914886 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3 copy number gain See cases [RCV000053065] Chr21:7749532..46661140 [GRCh38]
Chr21:15499647..48081052 [GRCh37]
Chr21:14421518..46905480 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3 copy number gain See cases [RCV000053067] Chr21:7749532..46661140 [GRCh38]
Chr21:15499847..48081052 [GRCh37]
Chr21:14421718..46905480 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000053068] Chr21:7749532..46670405 [GRCh38]
Chr21:20655360..48090317 [GRCh37]
Chr21:19577231..46914745 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000053069] Chr21:7749532..46670405 [GRCh38]
Chr21:34423268..48090317 [GRCh37]
Chr21:33345138..46914745 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053039] Chr21:7749532..46623792 [GRCh38]
Chr21:14524963..48043704 [GRCh37]
Chr21:13446834..46868132 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3 copy number gain See cases [RCV000053040] Chr21:7749532..46653090 [GRCh38]
Chr21:14539679..48073002 [GRCh37]
Chr21:13461550..46897430 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-42971047)x3 copy number gain See cases [RCV000133676] Chr21:7749532..42971047 [GRCh38]
Chr21:15499847..44391157 [GRCh37]
Chr21:14421718..43264226 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3 copy number gain See cases [RCV000134727] Chr21:7749532..46653084 [GRCh38]
Chr21:15485038..48072996 [GRCh37]
Chr21:14406909..46897424 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3 copy number gain See cases [RCV000134509] Chr21:7749532..46649831 [GRCh38]
Chr21:14577835..48069743 [GRCh37]
Chr21:13499706..46894171 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 copy number gain See cases [RCV000134119] Chr21:7749532..46670440 [GRCh38]
Chr21:15485038..48090352 [GRCh37]
Chr21:14406909..46914780 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3 copy number gain See cases [RCV000135310] Chr21:7749532..46670346 [GRCh38]
Chr21:34111831..48090258 [GRCh37]
Chr21:33033702..46914686 [NCBI36]
Chr21:21q22.11-22.3		 pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:36206067-46670405)x3 copy number gain See cases [RCV000134972] Chr21:36206067..46670405 [GRCh38]
Chr21:37578365..48090317 [GRCh37]
Chr21:36500235..46914745 [NCBI36]
Chr21:21q22.12-22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3 copy number gain See cases [RCV000134836] Chr21:7749532..46664250 [GRCh38]
Chr21:15485038..48084162 [GRCh37]
Chr21:14406909..46908590 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 copy number gain See cases [RCV000134842] Chr21:7749532..46670440 [GRCh38]
Chr21:15513244..48090352 [GRCh37]
Chr21:14435115..46914780 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3 copy number gain See cases [RCV000135448] Chr21:7749532..46660999 [GRCh38]
Chr21:15499847..48080911 [GRCh37]
Chr21:14421718..46905339 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21q22.13-22.3(chr21:36519173-46670405)x3 copy number gain See cases [RCV000136142] Chr21:36519173..46670405 [GRCh38]
Chr21:37891471..48090317 [GRCh37]
Chr21:36813341..46914745 [NCBI36]
Chr21:21q22.13-22.3		 pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:34789953-46636538)x1 copy number loss See cases [RCV000136828] Chr21:34789953..46636538 [GRCh38]
Chr21:36162250..48056450 [GRCh37]
Chr21:35084120..46880878 [NCBI36]
Chr21:21q22.12-22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000137255] Chr21:7749532..46671060 [GRCh38]
Chr21:35319225..48090972 [GRCh37]
Chr21:34241095..46915400 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000137337] Chr21:7749532..46671060 [GRCh38]
Chr21:10697897..48090972 [GRCh37]
Chr21:1..46915400 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21q22.3(chr21:41733640-46671060)x1 copy number loss See cases [RCV000137341] Chr21:41733640..46671060 [GRCh38]
Chr21:43153800..48090972 [GRCh37]
Chr21:42026869..46915400 [NCBI36]
Chr21:21q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000138216] Chr21:7749532..46671060 [GRCh38]
Chr21:10944001..48090972 [GRCh37]
Chr21:9965872..46915400 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21q22.13-22.3(chr21:37669628-46671060)x1 copy number loss See cases [RCV000138096] Chr21:37669628..46671060 [GRCh38]
Chr21:39041930..48090972 [GRCh37]
Chr21:37963800..46915400 [NCBI36]
Chr21:21q22.13-22.3		 pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:36066991-46671060)x3 copy number gain See cases [RCV000138164] Chr21:36066991..46671060 [GRCh38]
Chr21:37439289..48090972 [GRCh37]
Chr21:36361159..46915400 [NCBI36]
Chr21:21q22.12-22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000138436] Chr21:7749532..46671060 [GRCh38]
Chr21:15451032..48090972 [GRCh37]
Chr21:14372903..46915400 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 21q22.2-22.3(chr21:40296025-46670440)x1 copy number loss See cases [RCV000139158] Chr21:40296025..46670440 [GRCh38]
Chr21:41667952..48090352 [GRCh37]
Chr21:40589822..46914780 [NCBI36]
Chr21:21q22.2-22.3		 pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3 copy number gain See cases [RCV000140103] Chr21:7749532..46670346 [GRCh38]
Chr21:14577894..48090258 [GRCh37]
Chr21:13499765..46914686 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3 copy number gain See cases [RCV000141346] Chr21:7749532..46698247 [GRCh38]
Chr21:14577835..48118159 [GRCh37]
Chr21:13499706..46942587 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000141827] Chr21:7749532..46677460 [GRCh38]
Chr21:28285299..48097372 [GRCh37]
Chr21:27207170..46921800 [NCBI36]
Chr21:21q21.3-22.3		 uncertain significance
GRCh38/hg38 21q22.2-22.3(chr21:38816399-46677460)x1 copy number loss See cases [RCV000142311] Chr21:38816399..46677460 [GRCh38]
Chr21:40188323..48097372 [GRCh37]
Chr21:39110193..46921800 [NCBI36]
Chr21:21q22.2-22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1 copy number loss See cases [RCV000142427] Chr21:7817158..46670440 [GRCh38]
Chr21:15485038..48090352 [GRCh37]
Chr21:14406909..46914780 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000143120] Chr21:7749532..46677460 [GRCh38]
Chr21:15006457..48097372 [GRCh37]
Chr21:13928328..46921800 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21q22.2-22.3(chr21:39375937-44246148)x1 copy number loss See cases [RCV000142650] Chr21:39375937..44246148 [GRCh38]
Chr21:40747863..45666031 [GRCh37]
Chr21:39669733..44490459 [NCBI36]
Chr21:21q22.2-22.3		 pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000143376] Chr21:7749532..46677460 [GRCh38]
Chr21:15006458..48097372 [GRCh37]
Chr21:13928329..46921800 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21q22.3(chr21:41368412-42556043)x3 copy number gain See cases [RCV000143383] Chr21:41368412..42556043 [GRCh38]
Chr21:42740339..43976153 [GRCh37]
Chr21:41662209..42849222 [NCBI36]
Chr21:21q22.3		 likely benign|uncertain significance
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460) copy number gain See cases [RCV000143160] Chr21:7749532..46677460 [GRCh38]
Chr21:14386013..48097372 [GRCh37]
Chr21:13307884..46921800 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21q22.3(chr21:42129699-46671060)x1 copy number loss See cases [RCV000143335] Chr21:42129699..46671060 [GRCh38]
Chr21:43549809..48090972 [GRCh37]
Chr21:42422878..46915400 [NCBI36]
Chr21:21q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000148131] Chr21:7749532..46670405 [GRCh38]
Chr21:15499847..48090317 [GRCh37]
Chr21:14421718..46914745 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:43749126-43904643)x1 copy number loss See cases [RCV000203432] Chr21:43749126..43904643 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:15538655-48080926)x1 copy number loss See cases [RCV000239948] Chr21:15538655..48080926 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q22.2-22.3(chr21:39841248-44652723)x3 copy number gain See cases [RCV000239953] Chr21:39841248..44652723 [GRCh37]
Chr21:21q22.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15410701-48090317)x3 copy number gain See cases [RCV000240397] Chr21:15410701..48090317 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:43268694-48097372)x1 copy number loss See cases [RCV000446372] Chr21:43268694..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:43598607-48097372)x1 copy number loss See cases [RCV000447618] Chr21:43598607..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q22.2-22.3(chr21:42410406-48097372)x1 copy number loss See cases [RCV000448694] Chr21:42410406..48097372 [GRCh37]
Chr21:21q22.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:14771770-48080867)x3 copy number gain See cases [RCV000447884] Chr21:14771770..48080867 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-44827632)x3 copy number gain See cases [RCV000448199] Chr21:15006457..44827632 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:43766629-43904583)x1 copy number loss See cases [RCV000448851] Chr21:43766629..43904583 [GRCh37]
Chr21:21q22.3		 likely benign
GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372)x3 copy number gain See cases [RCV000447729] Chr21:15285841..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 copy number gain See cases [RCV000447749] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:43498966-48097372)x1 copy number loss See cases [RCV000512071] Chr21:43498966..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q22.13-22.3(chr21:38699545-48097372)x1 copy number loss See cases [RCV000510684] Chr21:38699545..48097372 [GRCh37]
Chr21:21q22.13-22.3		 pathogenic
GRCh37/hg19 21q22.2-22.3(chr21:41254101-48097372)x1 copy number loss See cases [RCV000511808] Chr21:41254101..48097372 [GRCh37]
Chr21:21q22.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006458-48097372) copy number gain See cases [RCV000511589] Chr21:15006458..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q22.13-22.3(chr21:37914123-48097372)x1 copy number loss See cases [RCV000510798] Chr21:37914123..48097372 [GRCh37]
Chr21:21q22.13-22.3		 pathogenic
GRCh37/hg19 21q22.2-22.3(chr21:42335622-48097372)x1 copy number loss not provided [RCV000684165] Chr21:42335622..48097372 [GRCh37]
Chr21:21q22.2-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:43415139-43845652)x3 copy number gain not provided [RCV000684144] Chr21:43415139..43845652 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.3(chr21:43687353-48097372)x1 copy number loss not provided [RCV000684163] Chr21:43687353..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
Single allele duplication not provided [RCV000768458] Chr21:43010560..48093051 [GRCh37]
Chr21:21q22.3		 likely pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10824040-48090629)x3 copy number gain not provided [RCV000741418] Chr21:10824040..48090629 [GRCh37]
Chr21:21p11.2-q22.3		 pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10827533-48100155)x3 copy number gain not provided [RCV000741419] Chr21:10827533..48100155 [GRCh37]
Chr21:21p11.2-q22.3		 pathogenic
GRCh37/hg19 21q22.2-22.3(chr21:40364245-44169928)x1 copy number loss not provided [RCV000741567] Chr21:40364245..44169928 [GRCh37]
Chr21:21q22.2-22.3		 pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10699330-48117896)x3 copy number gain not provided [RCV000741413] Chr21:10699330..48117896 [GRCh37]
Chr21:21p11.2-q22.3		 pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10704198-48117896)x3 copy number gain not provided [RCV000741415] Chr21:10704198..48117896 [GRCh37]
Chr21:21p11.2-q22.3		 pathogenic
GRCh37/hg19 21q22.2-22.3(chr21:41537095-46914745) copy number loss not provided [RCV000767626] Chr21:41537095..46914745 [GRCh37]
Chr21:21q22.2-22.3		 pathogenic
NM_003225.3(TFF1):c.239-9C>T single nucleotide variant not provided [RCV000960320] Chr21:42362504 [GRCh38]
Chr21:43782613 [GRCh37]
Chr21:21q22.3		 benign
GRCh37/hg19 21q22.2-22.3(chr21:42044877-48100155)x3 copy number gain See cases [RCV001007433] Chr21:42044877..48100155 [GRCh37]
Chr21:21q22.2-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:43756585-46240105)x1 copy number loss not provided [RCV000849014] Chr21:43756585..46240105 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:43757247-43879787)x1 copy number loss not provided [RCV000846406] Chr21:43757247..43879787 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 copy number gain not provided [RCV000846937] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:14420615-48080926)x3 copy number gain Down syndrome [RCV002284306] Chr21:14420615..48080926 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
NM_003225.3(TFF1):c.72C>T (p.Ala24=) single nucleotide variant not provided [RCV000889385] Chr21:42366424 [GRCh38]
Chr21:43786533 [GRCh37]
Chr21:21q22.3		 benign
GRCh37/hg19 21q22.3(chr21:43472147-48097372)x1 copy number loss not provided [RCV001007138] Chr21:43472147..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q22.13-22.3(chr21:39410438-45171756)x1 copy number loss not provided [RCV001007132] Chr21:39410438..45171756 [GRCh37]
Chr21:21q22.13-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:42679089-48097372) copy number loss Delayed speech and language development [RCV002280704] Chr21:42679089..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:14629063-48090317)x3 copy number gain See cases [RCV001263025] Chr21:14629063..48090317 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21p13-q22.3(chr21:1-48129895)x3 copy number gain See cases [RCV001780078] Chr21:1..48129895 [GRCh37]
Chr21:21p13-q22.3		 pathogenic
NC_000021.8:g.(?_43160998)_(47865240_?)dup duplication Cataract 9 multiple types [RCV001913783]|Developmental and epileptic encephalopathy, 30 [RCV003120744]|Primary ciliary dyskinesia [RCV001913782] Chr21:43160998..47865240 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 copy number gain not provided [RCV001829203] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372) copy number gain not specified [RCV002052725] Chr21:15285841..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q22.2-22.3(chr21:42410406-48097372) copy number loss not specified [RCV002052739] Chr21:42410406..48097372 [GRCh37]
Chr21:21q22.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372) copy number gain not specified [RCV002052723] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15041209-48097372) copy number gain not specified [RCV002052724] Chr21:15041209..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
NC_000021.8:g.(?_43160998)_(47865240_?)del deletion HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV001956307] Chr21:43160998..47865240 [GRCh37]
Chr21:21q22.3		 pathogenic
NC_000021.8:g.(?_43160998)_(47754702_?)del deletion Developmental and epileptic encephalopathy, 30 [RCV003119312]|Progressive myoclonic epilepsy [RCV003119311] Chr21:43160998..47754702 [GRCh37]
Chr21:21q22.3		 pathogenic|uncertain significance
GRCh37/hg19 21q22.2-22.3(chr21:42046399-45109188)x1 copy number loss not provided [RCV002472503] Chr21:42046399..45109188 [GRCh37]
Chr21:21q22.2-22.3		 pathogenic
NM_003225.3(TFF1):c.221T>A (p.Ile74Asn) single nucleotide variant not specified [RCV004209145] Chr21:42363272 [GRCh38]
Chr21:43783381 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003225.3(TFF1):c.49A>T (p.Met17Leu) single nucleotide variant not specified [RCV004173936] Chr21:42366447 [GRCh38]
Chr21:43786556 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003225.3(TFF1):c.94A>G (p.Thr32Ala) single nucleotide variant not specified [RCV004277745] Chr21:42363399 [GRCh38]
Chr21:43783508 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.3(chr21:43744956-43957325)x1 copy number loss not provided [RCV003483385] Chr21:43744956..43957325 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.2-22.3(chr21:40681179-48097372)x1 copy number loss not provided [RCV003483381] Chr21:40681179..48097372 [GRCh37]
Chr21:21q22.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006458-45674637)x3 copy number gain not provided [RCV003485218] Chr21:15006458..45674637 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q22.11-22.3(chr21:33015681-48097372)x3 copy number gain not provided [RCV003485222] Chr21:33015681..48097372 [GRCh37]
Chr21:21q22.11-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:43687354-48097372)x3 copy number gain not provided [RCV003485225] Chr21:43687354..48097372 [GRCh37]
Chr21:21q22.3		 likely pathogenic
GRCh37/hg19 21q22.3(chr21:43744362-44784657)x3 copy number gain not provided [RCV003485226] Chr21:43744362..44784657 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.3(chr21:43369956-48097372)x1 copy number loss not specified [RCV003986155] Chr21:43369956..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q21.3-22.3(chr21:26929299-48097372)x3 copy number gain not specified [RCV003986152] Chr21:26929299..48097372 [GRCh37]
Chr21:21q21.3-22.3		 pathogenic
GRCh37/hg19 21q22.12-22.3(chr21:35872675-48097372)x1 copy number loss not specified [RCV003986157] Chr21:35872675..48097372 [GRCh37]
Chr21:21q22.12-22.3		 pathogenic
GRCh37/hg19 21q21.3-22.3(chr21:30685776-48097372)x3 copy number gain not specified [RCV003986149] Chr21:30685776..48097372 [GRCh37]
Chr21:21q21.3-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:43603041-48097372)x1 copy number loss not specified [RCV003986150] Chr21:43603041..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15023401-48097372)x3 copy number gain not specified [RCV003986160] Chr21:15023401..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q22.11-22.3(chr21:34092685-48097372)x3 copy number gain not specified [RCV003986158] Chr21:34092685..48097372 [GRCh37]
Chr21:21q22.11-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15380398-48100790)x3 copy number gain not provided [RCV004577449] Chr21:15380398..48100790 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
NM_003225.3(TFF1):c.212C>A (p.Pro71His) single nucleotide variant not specified [RCV004474394] Chr21:42363281 [GRCh38]
Chr21:43783390 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003225.3(TFF1):c.188G>T (p.Arg63Leu) single nucleotide variant not specified [RCV004474393] Chr21:42363305 [GRCh38]
Chr21:43783414 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.11-22.3(chr21:34586759-48097372)x3 copy number gain not provided [RCV004819321] Chr21:34586759..48097372 [GRCh37]
Chr21:21q22.11-22.3		 pathogenic
NM_003225.3(TFF1):c.46T>A (p.Ser16Thr) single nucleotide variant not specified [RCV004866967] Chr21:42366450 [GRCh38]
Chr21:43786559 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003225.3(TFF1):c.51G>A (p.Met17Ile) single nucleotide variant not specified [RCV005287098] Chr21:42366445 [GRCh38]
Chr21:43786554 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003225.3(TFF1):c.215A>G (p.Asn72Ser) single nucleotide variant not specified [RCV005287099] Chr21:42363278 [GRCh38]
Chr21:43783387 [GRCh37]
Chr21:21q22.3		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:196
Count of miRNA genes:190
Interacting mature miRNAs:194
Transcripts:ENST00000291527
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
628716009GWAS2624238_Htrefoil factor 3 measurement QTL GWAS2624238 (human)5e-35trefoil factor 3 measurement214236622442366225Human
407296007GWAS944983_Htrefoil factor 1 measurement QTL GWAS944983 (human)1e-17trefoil factor 1 measurement214236640342366404Human
407174054GWAS823030_Hevent free survival time, urinary bladder cancer QTL GWAS823030 (human)0.000005event free survival time, urinary bladder cancer214236607742366078Human
617110156GWAS2127655_Htrefoil factor 1 measurement QTL GWAS2127655 (human)2e-55trefoil factor 1 measurement214236642342366424Human
616546026GWAS1942609_Htrefoil factor 3 measurement QTL GWAS1942609 (human)5e-35trefoil factor 3 measurement214236622442366225Human
616544986GWAS1941569_Htrefoil factor 1 measurement QTL GWAS1941569 (human)2e-55trefoil factor 1 measurement214236642342366424Human
628715697GWAS2623926_Htrefoil factor 1 measurement QTL GWAS2623926 (human)2e-55trefoil factor 1 measurement214236642342366424Human
628782451GWAS2690680_Hevent free survival time, urinary bladder cancer QTL GWAS2690680 (human)0.000005event free survival time, urinary bladder cancer214236607742366078Human
2303081MAMTS49_HMammary tumor susceptibility QTL 49 (human)1.72Mammary tumor susceptibility211795044843950448Human
597247493GWAS1343567_Hevent free survival time, urinary bladder cancer QTL GWAS1343567 (human)0.000005event free survival time, urinary bladder cancer214236607742366078Human
597267031GWAS1363105_Htrefoil factor 1 measurement QTL GWAS1363105 (human)1e-17trefoil factor 1 measurement214236640342366404Human
628896354GWAS2804583_Htrefoil factor 1 measurement QTL GWAS2804583 (human)1e-17trefoil factor 1 measurement214236640342366404Human

Markers in Region
GDB:185151  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372143,782,415 - 43,783,399UniSTSGRCh37
Build 362142,655,484 - 42,656,468RGDNCBI36
Celera2128,931,391 - 28,932,374RGD
Cytogenetic Map21q22.3UniSTS
HuRef2129,199,669 - 29,200,652UniSTS
GDB:192309  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372143,786,925 - 43,787,077UniSTSGRCh37
Build 362142,659,994 - 42,660,146RGDNCBI36
Celera2128,935,900 - 28,936,052RGD
Cytogenetic Map21q22.3UniSTS
HuRef2129,204,177 - 29,204,329UniSTS
PMC350567P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372143,785,445 - 43,785,774UniSTSGRCh37
Build 362142,658,514 - 42,658,843RGDNCBI36
Celera2128,934,420 - 28,934,749RGD
Cytogenetic Map21q22.3UniSTS
HuRef2129,202,697 - 29,203,026UniSTS
SHGC-35308  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372143,782,396 - 43,782,578UniSTSGRCh37
Build 362142,655,465 - 42,655,647RGDNCBI36
Celera2128,931,372 - 28,931,554RGD
Cytogenetic Map21q22.3UniSTS
HuRef2129,199,650 - 29,199,832UniSTS
GeneMap99-GB4 RH Map21266.94UniSTS
Whitehead-RH Map21223.1UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
506 1928 939 783 1701 1309 1757 2 443 694 288 844 3369 2665 11 1156 577 1216 1203 159

Sequence


Ensembl Acc Id: ENST00000291527   ⟹   ENSP00000291527
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2142,362,282 - 42,366,535 (-)Ensembl
RefSeq Acc Id: NM_003225   ⟹   NP_003216
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382142,362,282 - 42,366,535 (-)NCBI
GRCh372143,782,391 - 43,786,644 (-)ENTREZGENE
Build 362142,655,460 - 42,659,713 (-)NCBI Archive
HuRef2129,199,645 - 29,203,896 (-)ENTREZGENE
CHM1_12143,342,564 - 43,346,817 (-)NCBI
T2T-CHM13v2.02140,751,729 - 40,755,982 (-)NCBI
Sequence:
RefSeq Acc Id: NP_003216   ⟸   NM_003225
- Peptide Label: precursor
- UniProtKB: P04155 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000291527   ⟸   ENST00000291527
Protein Domains
P-type

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P04155-F1-model_v2 AlphaFold P04155 1-84 view protein structure

Promoters
RGD ID:13602930
Promoter ID:EPDNEW_H27649
Type:initiation region
Name:TFF1_1
Description:trefoil factor 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27650  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382142,366,535 - 42,366,595EPDNEW
RGD ID:13602932
Promoter ID:EPDNEW_H27650
Type:initiation region
Name:TFF1_2
Description:trefoil factor 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27649  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382142,366,794 - 42,366,854EPDNEW
RGD ID:6853630
Promoter ID:EP15056
Type:single initiation site
Name:HS_TFF1
Description:Estrogen-responsive RNA, TFF1 or BCEI or PS2 gene.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Sequencing of a full-length cDNA
Regulation:breast tumor; (induced by or strongly expressed in) estrogen
Position:
Human AssemblyChrPosition (strand)Source
Build 362142,659,713 - 42,659,773EPD
RGD ID:6799601
Promoter ID:HG_KWN:41035
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:OTTHUMT00000195361
Position:
Human AssemblyChrPosition (strand)Source
Build 362142,659,996 - 42,660,747 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11755 AgrOrtholog
COSMIC TFF1 COSMIC
Ensembl Genes ENSG00000160182 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000291527 ENTREZGENE
  ENST00000291527.3 UniProtKB/Swiss-Prot
Gene3D-CATH 4.10.110.10 UniProtKB/Swiss-Prot
GTEx ENSG00000160182 GTEx
HGNC ID HGNC:11755 ENTREZGENE
Human Proteome Map TFF1 Human Proteome Map
InterPro P_trefoil_chordata UniProtKB/Swiss-Prot
  P_trefoil_CS UniProtKB/Swiss-Prot
  P_trefoil_dom UniProtKB/Swiss-Prot
  P_trefoil_dom_sf UniProtKB/Swiss-Prot
KEGG Report hsa:7031 UniProtKB/Swiss-Prot
NCBI Gene 7031 ENTREZGENE
OMIM 113710 OMIM
PANTHER PTHR13826 UniProtKB/Swiss-Prot
  TREFOIL FACTOR 1 UniProtKB/Swiss-Prot
Pfam Trefoil UniProtKB/Swiss-Prot
PharmGKB PA36470 PharmGKB
PRINTS PTREFOIL UniProtKB/Swiss-Prot
PROSITE P_TREFOIL_1 UniProtKB/Swiss-Prot
  P_TREFOIL_2 UniProtKB/Swiss-Prot
SMART SM00018 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF57492 UniProtKB/Swiss-Prot
UniProt P04155 ENTREZGENE, UniProtKB/Swiss-Prot