SFN (stratifin) - Rat Genome Database

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Gene: SFN (stratifin) Homo sapiens
Analyze
Symbol: SFN
Name: stratifin
RGD ID: 1312341
HGNC Page HGNC
Description: Enables identical protein binding activity. Involved in intrinsic apoptotic signaling pathway in response to DNA damage; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; and release of cytochrome c from mitochondria. Located in cytosol. Implicated in transitional cell carcinoma and vulva squamous cell carcinoma. Biomarker of endometrial carcinoma; in situ carcinoma; ovarian cancer; and urinary bladder cancer.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 14-3-3 protein sigma; 14-3-3 sigma; epithelial cell marker protein 1; YWHAS
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl126,863,149 - 26,864,456 (+)EnsemblGRCh38hg38GRCh38
GRCh38126,863,149 - 26,864,456 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37127,189,640 - 27,190,947 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36127,062,220 - 27,063,534 (+)NCBINCBI36hg18NCBI36
Build 34126,873,774 - 26,875,089NCBI
Celera125,586,728 - 25,588,042 (+)NCBI
Cytogenetic Map1p36.11NCBI
HuRef125,443,317 - 25,444,639 (+)NCBIHuRef
CHM1_1127,302,848 - 27,304,162 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-Tetrandrine  (EXP)
(Z)-3-butylidenephthalide  (EXP)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3-dimethoxynaphthalene-1,4-dione  (EXP)
2-acetamidofluorene  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
5-aza-2'-deoxycytidine  (EXP,ISO)
5-fluorouracil  (EXP)
6-O-methylguanine  (EXP)
7,12-dimethyltetraphene  (EXP)
actinomycin D  (EXP)
adefovir pivoxil  (EXP)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (ISO)
antirheumatic drug  (EXP)
aristolochic acid  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (EXP)
azathioprine  (EXP)
benzalkonium chloride  (ISO)
benzene  (EXP)
benzo[a]pyrene  (EXP,ISO)
Benzo[k]fluoranthene  (ISO)
beta-naphthoflavone  (EXP)
bis(2-chloroethyl) sulfide  (EXP)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
bortezomib  (EXP)
bucladesine  (EXP)
butan-1-ol  (EXP)
cadmium dichloride  (EXP,ISO)
calcitriol  (EXP)
carbamazepine  (EXP)
carbon nanotube  (EXP,ISO)
chlorambucil  (EXP)
chloroacetaldehyde  (EXP)
chloropicrin  (EXP)
chloroprene  (ISO)
choline  (ISO)
chrysin  (EXP)
cidofovir anhydrous  (EXP)
cisplatin  (EXP)
clodronic acid  (EXP)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
copper(II) sulfate  (EXP)
coumestrol  (EXP)
crocidolite asbestos  (EXP)
cyclophosphamide  (EXP)
cyclosporin A  (EXP)
cytarabine  (EXP)
diallyl disulfide  (ISO)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
diclofenac  (EXP)
diethylstilbestrol  (ISO)
dioxygen  (EXP,ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
Enterolactone  (EXP)
entinostat  (EXP)
ethanol  (EXP)
ethyl methanesulfonate  (EXP)
etoposide  (EXP)
folic acid  (ISO)
formaldehyde  (EXP)
gefitinib  (EXP)
gemcitabine  (EXP)
GW 4064  (EXP)
ibuprofen  (EXP)
ifosfamide  (EXP)
irinotecan  (EXP)
isobutanol  (EXP)
isoniazide  (EXP)
isoprenaline  (EXP)
ivermectin  (EXP)
kaempferol  (EXP)
L-methionine  (ISO)
Lasiocarpine  (EXP)
lead diacetate  (ISO)
Licochalcone B  (EXP)
luteolin  (EXP)
medroxyprogesterone acetate  (EXP)
mercury dibromide  (EXP)
metformin  (ISO)
methotrexate  (EXP)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP)
mitoxantrone  (EXP)
monosodium L-glutamate  (ISO)
N,N,N',N'-tetrakis(2-pyridylmethyl)ethylenediamine  (EXP)
N-methyl-4-phenylpyridinium  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (EXP)
N-Nitrosopyrrolidine  (EXP)
naphthalene  (ISO)
nickel atom  (EXP)
nickel sulfate  (ISO)
obeticholic acid  (EXP)
ochratoxin A  (EXP,ISO)
ozone  (ISO)
p-chloromercuribenzoic acid  (EXP)
panobinostat  (EXP)
paracetamol  (EXP)
paraquat  (ISO)
perfluorononanoic acid  (EXP)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
potassium bromate  (EXP)
progesterone  (ISO)
quercetin  (EXP)
SB 431542  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenite  (EXP)
sodium fluoride  (ISO)
sulforaphane  (EXP)
tamoxifen  (ISO)
tetrachloromethane  (ISO)
tetraphene  (ISO)
titanium dioxide  (ISO)
tributylstannane  (ISO)
trichostatin A  (EXP)
Triptolide  (ISO)
urethane  (EXP)
valproic acid  (EXP)
vorinostat  (EXP)
zinc atom  (EXP)
zinc(0)  (EXP)

References

Additional References at PubMed
PMID:1286667   PMID:1390337   PMID:8515476   PMID:9659898   PMID:10524633   PMID:10767298   PMID:11574543   PMID:11697890   PMID:11886850   PMID:11896572   PMID:11917136   PMID:12075357  
PMID:12364343   PMID:12383250   PMID:12433946   PMID:12438239   PMID:12477932   PMID:12582028   PMID:12730237   PMID:12787309   PMID:12816952   PMID:12919677   PMID:14505491   PMID:14517281  
PMID:14568170   PMID:15023544   PMID:15131044   PMID:15140222   PMID:15161933   PMID:15166223   PMID:15173315   PMID:15184053   PMID:15187095   PMID:15260850   PMID:15282546   PMID:15292943  
PMID:15324660   PMID:15367659   PMID:15467455   PMID:15482563   PMID:15489334   PMID:15489902   PMID:15574328   PMID:15654940   PMID:15654971   PMID:15657067   PMID:15696159   PMID:15731107  
PMID:15778465   PMID:15791647   PMID:15857577   PMID:15857578   PMID:15867223   PMID:15923258   PMID:16009130   PMID:16041367   PMID:16045749   PMID:16093354   PMID:16098031   PMID:16099816  
PMID:16189514   PMID:16229802   PMID:16243811   PMID:16505098   PMID:16511560   PMID:16511572   PMID:16532026   PMID:16581770   PMID:16648560   PMID:16672277   PMID:16710414   PMID:16767219  
PMID:16786000   PMID:16797759   PMID:16799092   PMID:16814250   PMID:16888623   PMID:16902409   PMID:16953367   PMID:16964243   PMID:17222803   PMID:17359284   PMID:17361185   PMID:17388661  
PMID:17391729   PMID:17443672   PMID:17546054   PMID:17672938   PMID:17786288   PMID:17786341   PMID:17982629   PMID:18029348   PMID:18036248   PMID:18036402   PMID:18339811   PMID:18379196  
PMID:18382127   PMID:18440129   PMID:18452139   PMID:18647389   PMID:18806827   PMID:18936350   PMID:18950492   PMID:19047086   PMID:19056867   PMID:19160382   PMID:19166854   PMID:19172738  
PMID:19231067   PMID:19271751   PMID:19380743   PMID:19473536   PMID:19502805   PMID:19513498   PMID:19528459   PMID:19626586   PMID:19640509   PMID:19642975   PMID:19664078   PMID:19685192  
PMID:19729831   PMID:19828132   PMID:19961842   PMID:20005908   PMID:20020773   PMID:20093232   PMID:20108042   PMID:20179209   PMID:20206173   PMID:20336542   PMID:20388496   PMID:20478393  
PMID:20487521   PMID:20618440   PMID:20811675   PMID:20823509   PMID:20843328   PMID:20976731   PMID:21040574   PMID:21048031   PMID:21115893   PMID:21182205   PMID:21239874   PMID:21249227  
PMID:21416292   PMID:21625211   PMID:21654836   PMID:21755566   PMID:21870863   PMID:21873635   PMID:21918011   PMID:21933426   PMID:21988832   PMID:22192357   PMID:22222486   PMID:22304920  
PMID:22315133   PMID:22315970   PMID:22329840   PMID:22399611   PMID:22422640   PMID:22588126   PMID:22634725   PMID:22706160   PMID:22863883   PMID:23312294   PMID:23370648   PMID:23444366  
PMID:23533145   PMID:23572552   PMID:23687381   PMID:23752268   PMID:24030981   PMID:24124604   PMID:24189400   PMID:24201220   PMID:24234332   PMID:24469038   PMID:24510904   PMID:24658140  
PMID:24923353   PMID:24981860   PMID:25154416   PMID:25234834   PMID:25402006   PMID:25416956   PMID:25468996   PMID:25736868   PMID:25796446   PMID:25852190   PMID:25921289   PMID:25963833  
PMID:26103986   PMID:26147002   PMID:26179207   PMID:26186194   PMID:26223682   PMID:26344197   PMID:26485645   PMID:26496610   PMID:26578655   PMID:26618866   PMID:26777405   PMID:27034005  
PMID:27107012   PMID:27107014   PMID:27175590   PMID:27432908   PMID:27462432   PMID:27576135   PMID:27684187   PMID:27717743   PMID:27751915   PMID:27760737   PMID:27999208   PMID:28077325  
PMID:28087741   PMID:28089448   PMID:28094252   PMID:28202711   PMID:28205554   PMID:28514442   PMID:28515276   PMID:28575131   PMID:28675297   PMID:28681606   PMID:29226323   PMID:29298432  
PMID:29474905   PMID:29509190   PMID:29555518   PMID:29678907   PMID:29686263   PMID:29880877   PMID:29956451   PMID:30074213   PMID:30404157   PMID:30515972   PMID:30575818   PMID:30728155  
PMID:30926680   PMID:31040226   PMID:31046837   PMID:31180492   PMID:31515488   PMID:31586073   PMID:31677258   PMID:31751820   PMID:31779593   PMID:31980649   PMID:32048621   PMID:32296183  
PMID:32979285   PMID:32989256   PMID:33493738  


Genomics

Comparative Map Data
SFN
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl126,863,149 - 26,864,456 (+)EnsemblGRCh38hg38GRCh38
GRCh38126,863,149 - 26,864,456 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37127,189,640 - 27,190,947 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36127,062,220 - 27,063,534 (+)NCBINCBI36hg18NCBI36
Build 34126,873,774 - 26,875,089NCBI
Celera125,586,728 - 25,588,042 (+)NCBI
Cytogenetic Map1p36.11NCBI
HuRef125,443,317 - 25,444,639 (+)NCBIHuRef
CHM1_1127,302,848 - 27,304,162 (+)NCBICHM1_1
Sfn
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm394133,327,867 - 133,329,479 (-)NCBIGRCm39mm39
GRCm39 Ensembl4133,327,867 - 133,329,479 (-)Ensembl
GRCm384133,600,556 - 133,602,168 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4133,600,556 - 133,602,168 (-)EnsemblGRCm38mm10GRCm38
MGSCv374133,156,471 - 133,158,083 (-)NCBIGRCm37mm9NCBIm37
MGSCv364132,872,632 - 132,873,884 (-)NCBImm8
Celera4131,765,686 - 131,767,298 (-)NCBICelera
Cytogenetic Map4D2.3NCBI
cM Map466.25NCBI
Sfn
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2 Ensembl5145,826,201 - 145,831,314 (-)Ensembl
Rnor_6.05151,823,422 - 151,824,937 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl5151,823,887 - 151,824,633 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.05155,512,802 - 155,514,320 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45151,475,395 - 151,479,996 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.15151,485,433 - 151,490,434 (+)NCBI
Celera5144,247,261 - 144,248,776 (-)NCBICelera
Cytogenetic Map5q36NCBI
Sfn
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554526,217,698 - 6,218,444 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554526,217,519 - 6,218,481 (+)NCBIChiLan1.0ChiLan1.0
SFN
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1127,182,629 - 27,184,075 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl127,182,834 - 27,183,580 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0126,126,212 - 26,127,761 (+)NCBIMhudiblu_PPA_v0panPan3
SFN
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1273,268,289 - 73,269,663 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl273,268,791 - 73,269,537 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha269,846,343 - 69,847,691 (-)NCBI
ROS_Cfam_1.0273,832,085 - 73,833,433 (-)NCBI
UMICH_Zoey_3.1270,657,031 - 70,658,379 (-)NCBI
UNSW_CanFamBas_1.0271,662,570 - 71,663,918 (-)NCBI
UU_Cfam_GSD_1.0272,665,732 - 72,667,080 (-)NCBI
Sfn
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505845,450,127 - 45,454,645 (+)NCBI
SpeTri2.0NW_00493647411,274,927 - 11,279,427 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SFN
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.120105,902,481 - 105,904,313 (-)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl20105,902,974 - 105,903,720 (-)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366603310,524,809 - 10,527,364 (+)NCBIVero_WHO_p1.0
Sfn
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462476410,859,556 - 10,860,876 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
PMC150720P3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37127,187,684 - 27,187,967UniSTSGRCh37
Build 36127,060,271 - 27,060,554RGDNCBI36
Celera125,584,779 - 25,585,062RGD
Cytogenetic Map1p36.11UniSTS
HuRef125,441,369 - 25,441,651UniSTS
PMC18556P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37127,190,562 - 27,190,940UniSTSGRCh37
Build 36127,063,149 - 27,063,527RGDNCBI36
Celera125,587,657 - 25,588,035RGD
Cytogenetic Map1p36.11UniSTS
HuRef125,444,246 - 25,444,632UniSTS
PMC18556P2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37127,189,806 - 27,189,967UniSTSGRCh37
Build 36127,062,393 - 27,062,554RGDNCBI36
Celera125,586,901 - 25,587,062RGD
Cytogenetic Map1p36.11UniSTS
HuRef125,443,490 - 25,443,651UniSTS
PMC18556P3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37127,189,688 - 27,189,966UniSTSGRCh37
Build 36127,062,275 - 27,062,553RGDNCBI36
Celera125,586,783 - 25,587,061RGD
Cytogenetic Map1p36.11UniSTS
HuRef125,443,372 - 25,443,650UniSTS
SHGC-74449  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37127,190,749 - 27,190,885UniSTSGRCh37
Build 36127,063,336 - 27,063,472RGDNCBI36
Celera125,587,844 - 25,587,980RGD
Cytogenetic Map1p36.11UniSTS
HuRef125,444,433 - 25,444,577UniSTS
TNG Radiation Hybrid Map111345.0UniSTS
GeneMap99-GB4 RH Map190.43UniSTS
NCBI RH Map1142.5UniSTS
G06573  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37127,190,580 - 27,190,922UniSTSGRCh37
Build 36127,063,167 - 27,063,509RGDNCBI36
Celera125,587,675 - 25,588,017RGD
Cytogenetic Map1p36.11UniSTS
HuRef125,444,264 - 25,444,614UniSTS
G15869   No map positions available.

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:436
Count of miRNA genes:327
Interacting mature miRNAs:354
Transcripts:ENST00000339276
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 16 24 1140 18 118 44 32 594
Medium 957 58 207 241 208 109 336 66 168 136 523 852 140 1 33 138 4
Low 1360 2470 1328 252 1491 249 2491 1506 3000 227 744 693 2 1137 1739 1 2
Below cutoff 104 450 180 100 221 100 382 614 547 34 74 22 34 315 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000339276   ⟹   ENSP00000340989
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl126,863,149 - 26,864,456 (+)Ensembl
RefSeq Acc Id: NM_006142   ⟹   NP_006133
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38126,863,149 - 26,864,456 (+)NCBI
GRCh37127,189,633 - 27,190,947 (+)ENTREZGENE
Build 36127,062,220 - 27,063,534 (+)NCBI Archive
HuRef125,443,317 - 25,444,639 (+)ENTREZGENE
CHM1_1127,302,848 - 27,304,162 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_006133   ⟸   NM_006142
- UniProtKB: P31947 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000340989   ⟸   ENST00000339276

Promoters
RGD ID:6854652
Promoter ID:EPDNEW_H491
Type:initiation region
Name:SFN_1
Description:stratifin
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38126,863,161 - 26,863,221EPDNEW
RGD ID:6786831
Promoter ID:HG_KWN:1531
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000011709
Position:
Human AssemblyChrPosition (strand)Source
Build 36127,062,151 - 27,063,507 (+)MPROMDB
RGD ID:6852576
Promoter ID:EP74100
Type:multiple initiation site
Name:HS_SFN
Description:Stratifin.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 36127,062,239 - 27,062,299EPD

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1p36.11-35.3(chr1:26807012-27685191)x1 copy number loss See cases [RCV000053799] Chr1:26807012..27685191 [GRCh38]
Chr1:27133503..28011702 [GRCh37]
Chr1:27006090..27884289 [NCBI36]
Chr1:1p36.11-35.3
pathogenic
GRCh38/hg38 1p36.11-35.3(chr1:26854636-27645829)x1 copy number loss See cases [RCV000137657] Chr1:26854636..27645829 [GRCh38]
Chr1:27181127..27972340 [GRCh37]
Chr1:27053714..27844927 [NCBI36]
Chr1:1p36.11-35.3
uncertain significance
GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3 copy number gain See cases [RCV000138891] Chr1:24381206..41401517 [GRCh38]
Chr1:24707696..41886350 [GRCh37]
Chr1:24580283..41658937 [NCBI36]
Chr1:1p36.11-34.2
pathogenic
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 copy number loss not provided [RCV000762767] Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12
likely benign
GRCh37/hg19 1p36.11(chr1:27119557-27547784)x3 copy number gain See cases [RCV000448699] Chr1:27119557..27547784 [GRCh37]
Chr1:1p36.11
uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 copy number gain Global developmental delay [RCV000787285] Chr1:103343285..103455144 [GRCh37]
Chr1:1p36.22-21.1
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:10773 AgrOrtholog
COSMIC SFN COSMIC
Ensembl Genes ENSG00000175793 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000340989 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000339276 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.190.20 UniProtKB/Swiss-Prot
GTEx ENSG00000175793 GTEx
HGNC ID HGNC:10773 ENTREZGENE
Human Proteome Map SFN Human Proteome Map
InterPro 14-3-3 UniProtKB/Swiss-Prot
  14-3-3_CS UniProtKB/Swiss-Prot
  14-3-3_dom_sf UniProtKB/Swiss-Prot
  14-3-3_domain UniProtKB/Swiss-Prot
  14-3-3_sigma UniProtKB/Swiss-Prot
KEGG Report hsa:2810 UniProtKB/Swiss-Prot
NCBI Gene 2810 ENTREZGENE
OMIM 601290 OMIM
PANTHER PTHR18860 UniProtKB/Swiss-Prot
Pfam 14-3-3 UniProtKB/Swiss-Prot
PharmGKB PA177 PharmGKB
PIRSF 14-3-3 UniProtKB/Swiss-Prot
PRINTS 1433ZETA UniProtKB/Swiss-Prot
PROSITE 1433_1 UniProtKB/Swiss-Prot
  1433_2 UniProtKB/Swiss-Prot
SMART 14_3_3 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF48445 UniProtKB/Swiss-Prot
UniProt 1433S_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary Q6FH30 UniProtKB/Swiss-Prot
  Q6FH51 UniProtKB/Swiss-Prot
  Q96DH0 UniProtKB/Swiss-Prot