FKBP1A (FKBP prolyl isomerase 1A) - Rat Genome Database

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Gene: FKBP1A (FKBP prolyl isomerase 1A) Homo sapiens
Analyze
Symbol: FKBP1A
Name: FKBP prolyl isomerase 1A
RGD ID: 737539
HGNC Page HGNC:3711
Description: Enables several functions, including FK506 binding activity; I-SMAD binding activity; and signaling receptor binding activity. Involved in several processes, including amyloid fibril formation; negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway; and protein peptidyl-prolyl isomerization. Located in Z disc; cytosol; and membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 12 kDa FK506-binding protein; 12 kDa FKBP; calstabin 1; calstabin-1; FK506 binding protein 1A; FK506 binding protein 1A, 12kDa; FK506 binding protein12; FK506-binding protein 1; FK506-binding protein 12; fk506-binding protein 1a; FK506-binding protein 1A (12kD); FK506-binding protein, T-cell, 12-kD; FKBP-12; FKBP-1A; FKBP1; FKBP12; FKBP12-Exip3; FKBP12C; immunophilin FKBP12; peptidyl-prolyl cis-trans isomerase FKBP1A; PKC12; PKCI2; PPIASE; PPIase FKBP1A; protein kinase C inhibitor 2; rotamase
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: FKBP1AP1   FKBP1AP2   FKBP1AP3   FKBP1AP4  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38201,368,978 - 1,393,054 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl201,368,977 - 1,393,164 (-)EnsemblGRCh38hg38GRCh38
GRCh37201,349,622 - 1,373,698 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36201,297,622 - 1,321,745 (-)NCBINCBI36Build 36hg18NCBI36
Build 34201,300,375 - 1,321,745NCBI
Celera201,445,967 - 1,470,163 (-)NCBICelera
Cytogenetic Map20p13NCBI
HuRef201,302,109 - 1,326,302 (-)NCBIHuRef
CHM1_1201,349,285 - 1,373,817 (-)NCBICHM1_1
T2T-CHM13v2.0201,418,161 - 1,442,241 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
14-Deoxy-11,12-didehydroandrographolide  (EXP)
17beta-estradiol  (EXP)
1H-pyrazole  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-sulfonyldiphenol  (ISO)
6-propyl-2-thiouracil  (ISO)
actinomycin D  (EXP)
Aflatoxin B2 alpha  (EXP)
amitrole  (ISO)
arsenite(3-)  (EXP)
asbestos  (EXP)
ascomycin  (ISO)
atrazine  (EXP)
benzene  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
beta-lapachone  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
bleomycin A5  (EXP)
bortezomib  (EXP)
Brodifacoum  (ISO)
butan-1-ol  (EXP)
cadmium atom  (EXP,ISO)
cadmium dichloride  (EXP)
calcidiol  (ISO)
calcium atom  (EXP)
calcium(0)  (EXP)
carmustine  (EXP)
chloropicrin  (EXP)
chlorpyrifos  (ISO)
chrysene  (ISO)
cisplatin  (EXP)
cobalt dichloride  (EXP)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
copper(II) sulfate  (EXP)
dantrolene  (ISO)
dexamethasone  (EXP)
dibutyl phthalate  (ISO)
disulfiram  (EXP)
diuron  (EXP,ISO)
doxorubicin  (EXP)
elemental selenium  (EXP)
enzyme inhibitor  (EXP)
ethanol  (ISO)
fenthion  (ISO)
finasteride  (ISO)
flutamide  (ISO)
folic acid  (ISO)
fumonisin B1  (ISO)
gentamycin  (ISO)
halothane  (ISO)
hydrogen cyanide  (ISO)
hydrogen peroxide  (EXP,ISO)
indometacin  (EXP,ISO)
inulin  (ISO)
ivermectin  (EXP)
mercury dichloride  (ISO)
metformin  (EXP)
methidathion  (ISO)
methimazole  (ISO)
methotrexate  (EXP)
mono(2-ethylhexyl) phthalate  (ISO)
N-nitrosodimethylamine  (ISO)
nefazodone  (ISO)
nickel atom  (EXP)
nickel sulfate  (EXP)
Nutlin-3  (EXP)
ochratoxin A  (EXP)
oxaliplatin  (ISO)
paclitaxel  (EXP)
paracetamol  (ISO)
PCB138  (ISO)
pentachlorophenol  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phenobarbital  (ISO)
picoxystrobin  (EXP)
pioglitazone  (EXP)
pirinixic acid  (ISO)
potassium cyanide  (ISO)
propiconazole  (ISO)
Rebamipide  (ISO)
rotenone  (ISO)
ryanodine  (ISO)
selenium atom  (EXP)
simvastatin  (ISO)
sirolimus  (EXP,ISO)
sodium arsenite  (EXP)
sulfadimethoxine  (ISO)
sulindac  (ISO)
tacrolimus (anhydrous)  (EXP)
tacrolimus hydrate  (EXP,ISO)
tert-butyl hydroperoxide  (EXP)
Tetrachlorobisphenol A  (EXP,ISO)
tetrachloroethene  (ISO)
tetrachloromethane  (ISO)
tetraphene  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
triadimefon  (ISO)
trichloroethene  (ISO)
trimellitic anhydride  (ISO)
triphenyl phosphate  (EXP)
triptonide  (ISO)
valproic acid  (EXP)
vincaleukoblastine  (EXP)
vinclozolin  (ISO)
vitamin E  (EXP)
wortmannin  (EXP,ISO)
zoledronic acid  (EXP)
zotarolimus  (EXP,ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. mTOR signaling in growth control and disease. Laplante M and Sabatini DM, Cell. 2012 Apr 13;149(2):274-93. doi: 10.1016/j.cell.2012.03.017.
2. Increased striatal mRNA and protein levels of the immunophilin FKBP-12 in experimental Parkinson's disease and identification of FKBP-12-binding proteins. Nilsson A, etal., J Proteome Res. 2007 Oct;6(10):3952-61. Epub 2007 Sep 18.
3. Online Mendelian Inheritance in Man, OMIM (TM). Online Mendelian Inheritance in Man, OMIM (TM).
4. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. Mechanisms of TGF-beta signaling from cell membrane to the nucleus. Shi Y and Massague J, Cell. 2003 Jun 13;113(6):685-700.
7. Cardiac defects and altered ryanodine receptor function in mice lacking FKBP12. Shou W, etal., Nature. 1998 Jan 29;391(6666):489-92.
8. FK506 activates BMPR2, rescues endothelial dysfunction, and reverses pulmonary hypertension. Spiekerkoetter E, etal., J Clin Invest. 2013 Aug;123(8):3600-13. doi: 10.1172/JCI65592. Epub 2013 Jul 15.
Additional References at PubMed
PMID:1281998   PMID:1374404   PMID:1375171   PMID:1695378   PMID:1696686   PMID:1701173   PMID:1709301   PMID:1709302   PMID:1709363   PMID:1713687   PMID:1716149   PMID:1930186  
PMID:2477715   PMID:7518616   PMID:7529739   PMID:7541038   PMID:7541044   PMID:7543369   PMID:7592869   PMID:7678431   PMID:7682113   PMID:7791754   PMID:7821789   PMID:7822316  
PMID:8521476   PMID:8524402   PMID:8662507   PMID:8889548   PMID:8955134   PMID:9334222   PMID:9346894   PMID:9546659   PMID:9663660   PMID:9857007   PMID:9871618   PMID:9880681  
PMID:10025408   PMID:10089303   PMID:10358090   PMID:10515881   PMID:10656803   PMID:10852943   PMID:11164950   PMID:11171121   PMID:11237759   PMID:11245643   PMID:11279144   PMID:11322937  
PMID:11438723   PMID:11583628   PMID:11598113   PMID:11780052   PMID:11827452   PMID:11960000   PMID:12181673   PMID:12417722   PMID:12443530   PMID:12477932   PMID:12600203   PMID:12604780  
PMID:12629052   PMID:12665801   PMID:12704193   PMID:12761501   PMID:12812497   PMID:12850152   PMID:14679009   PMID:14970260   PMID:15146197   PMID:15199065   PMID:15268862   PMID:15284440  
PMID:15467718   PMID:15489334   PMID:15514157   PMID:15734648   PMID:15761148   PMID:15796538   PMID:15908921   PMID:15992823   PMID:16036432   PMID:16049346   PMID:16122887   PMID:16278292  
PMID:16410343   PMID:16720724   PMID:16908189   PMID:17148612   PMID:17397867   PMID:17872463   PMID:17962721   PMID:17991864   PMID:18029417   PMID:18346205   PMID:18413763   PMID:19322201  
PMID:19414059   PMID:19592636   PMID:19913121   PMID:20431056   PMID:20628086   PMID:20639890   PMID:20851351   PMID:21047202   PMID:21652707   PMID:21832049   PMID:21873635   PMID:22046132  
PMID:22100703   PMID:22103444   PMID:22236651   PMID:22664266   PMID:22939629   PMID:22977237   PMID:22990118   PMID:23376485   PMID:23585572   PMID:23688288   PMID:23734213   PMID:23824909  
PMID:24113748   PMID:24405377   PMID:24499793   PMID:24559985   PMID:24598733   PMID:24607931   PMID:24658140   PMID:25281560   PMID:25416956   PMID:25464930   PMID:25615537   PMID:25659145  
PMID:25963833   PMID:26009182   PMID:26009186   PMID:26344197   PMID:26450664   PMID:26496610   PMID:27223077   PMID:27381026   PMID:27496803   PMID:27576135   PMID:27617579   PMID:27936610  
PMID:27991582   PMID:28515276   PMID:28986522   PMID:29246765   PMID:29551750   PMID:29997244   PMID:30021884   PMID:30215102   PMID:30382094   PMID:30981837   PMID:31028177   PMID:31209349  
PMID:31478661   PMID:31490997   PMID:31980649   PMID:32131492   PMID:32296183   PMID:32416067   PMID:32422433   PMID:32707033   PMID:32814053   PMID:32913203   PMID:33729478   PMID:33783207  
PMID:33845483   PMID:34349018   PMID:34469009   PMID:34599146   PMID:34882900   PMID:35211260   PMID:35356984   PMID:35446349   PMID:35831314   PMID:35944360   PMID:36114006   PMID:36135776  
PMID:36215168   PMID:36361587   PMID:36499275   PMID:36889311   PMID:37625838   PMID:37640791   PMID:37827155   PMID:38570626   PMID:38725843  


Genomics

Comparative Map Data
FKBP1A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38201,368,978 - 1,393,054 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl201,368,977 - 1,393,164 (-)EnsemblGRCh38hg38GRCh38
GRCh37201,349,622 - 1,373,698 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36201,297,622 - 1,321,745 (-)NCBINCBI36Build 36hg18NCBI36
Build 34201,300,375 - 1,321,745NCBI
Celera201,445,967 - 1,470,163 (-)NCBICelera
Cytogenetic Map20p13NCBI
HuRef201,302,109 - 1,326,302 (-)NCBIHuRef
CHM1_1201,349,285 - 1,373,817 (-)NCBICHM1_1
T2T-CHM13v2.0201,418,161 - 1,442,241 (-)NCBIT2T-CHM13v2.0
Fkbp1a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392151,384,403 - 151,403,611 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl2151,384,403 - 151,403,612 (+)EnsemblGRCm39 Ensembl
GRCm382151,542,483 - 151,561,691 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2151,542,483 - 151,561,692 (+)EnsemblGRCm38mm10GRCm38
MGSCv372151,368,235 - 151,387,427 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv362151,234,062 - 151,253,132 (+)NCBIMGSCv36mm8
Celera2157,359,901 - 157,379,075 (+)NCBICelera
Cytogenetic Map2G3NCBI
cM Map274.83NCBI
Fkbp1a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr83160,500,748 - 160,520,492 (+)NCBIGRCr8
mRatBN7.23140,040,359 - 140,060,107 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl3140,040,278 - 140,060,743 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx3143,944,928 - 143,964,668 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.03152,528,701 - 152,548,443 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.03150,269,170 - 150,288,910 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.03147,042,944 - 147,062,725 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl3147,042,944 - 147,062,724 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.03153,399,455 - 153,418,857 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.43141,861,237 - 141,880,797 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.13141,766,809 - 141,786,369 (+)NCBI
Celera3138,799,643 - 138,819,482 (+)NCBICelera
Cytogenetic Map3q41NCBI
Fkbp1a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955596580,106 - 603,255 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955596580,106 - 606,210 (-)NCBIChiLan1.0ChiLan1.0
FKBP1A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2212,399,937 - 2,432,330 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1202,396,766 - 2,426,602 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0201,519,330 - 1,548,473 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1201,292,519 - 1,298,888 (-)NCBIpanpan1.1PanPan1.1panPan2
FKBP1A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12419,618,581 - 19,643,685 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2419,618,558 - 19,643,046 (+)EnsemblCanFam3.1canFam3CanFam3.1
ROS_Cfam_1.02420,310,591 - 20,335,863 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2420,310,075 - 20,335,863 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12419,587,096 - 19,612,324 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02419,692,087 - 19,717,321 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02420,122,927 - 20,148,189 (+)NCBIUU_Cfam_GSD_1.0
Fkbp1a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640168,873,992 - 168,880,432 (+)NCBIHiC_Itri_2
SpeTri2.0NW_00493648517,305,376 - 17,311,797 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FKBP1A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.11733,910,047 - 33,935,212 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21738,470,202 - 38,495,226 (-)NCBISscrofa10.2Sscrofa10.2susScr3
FKBP1A
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1255,170,816 - 55,195,380 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660871,575,983 - 1,600,558 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Fkbp1a
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247412,666,636 - 2,692,938 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247412,669,909 - 2,692,959 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in FKBP1A
7 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 20p13(chr20:89939-1852477)x1 copy number loss See cases [RCV000050373] Chr20:89939..1852477 [GRCh38]
Chr20:70580..1833123 [GRCh37]
Chr20:18580..1781123 [NCBI36]
Chr20:20p13		 pathogenic
GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3 copy number gain See cases [RCV000051227] Chr20:89939..25697564 [GRCh38]
Chr20:70580..25678200 [GRCh37]
Chr20:18580..25626200 [NCBI36]
Chr20:20p13-11.21		 pathogenic
GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3 copy number gain See cases [RCV000051041] Chr20:89939..19146279 [GRCh38]
Chr20:70580..19126923 [GRCh37]
Chr20:18580..19074923 [NCBI36]
Chr20:20p13-11.23		 pathogenic
GRCh38/hg38 20p13(chr20:89939-1939218)x1 copy number loss See cases [RCV000052735] Chr20:89939..1939218 [GRCh38]
Chr20:70580..1919864 [GRCh37]
Chr20:18580..1867864 [NCBI36]
Chr20:20p13		 pathogenic
GRCh38/hg38 20p13(chr20:89939-1770567)x1 copy number loss See cases [RCV000052736] Chr20:89939..1770567 [GRCh38]
Chr20:70580..1751213 [GRCh37]
Chr20:18580..1699213 [NCBI36]
Chr20:20p13		 pathogenic
GRCh38/hg38 20p13(chr20:89939-1668795)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052737]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052737]|See cases [RCV000052737] Chr20:89939..1668795 [GRCh38]
Chr20:70580..1649441 [GRCh37]
Chr20:18580..1597441 [NCBI36]
Chr20:20p13		 pathogenic
GRCh38/hg38 20p13(chr20:121781-2290194)x1 copy number loss See cases [RCV000052738] Chr20:121781..2290194 [GRCh38]
Chr20:102422..2270840 [GRCh37]
Chr20:50422..2218840 [NCBI36]
Chr20:20p13		 pathogenic
GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3 copy number gain See cases [RCV000052995] Chr20:89939..19071495 [GRCh38]
Chr20:70580..19052139 [GRCh37]
Chr20:18580..19000139 [NCBI36]
Chr20:20p13-11.23		 pathogenic
GRCh38/hg38 20p13-11.22(chr20:89939-21787252)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052996]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052996]|See cases [RCV000052996] Chr20:89939..21787252 [GRCh38]
Chr20:70580..21767890 [GRCh37]
Chr20:18580..21715890 [NCBI36]
Chr20:20p13-11.22		 pathogenic
GRCh38/hg38 20p13-12.1(chr20:89939-14818511)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052997]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052997]|See cases [RCV000052997] Chr20:89939..14818511 [GRCh38]
Chr20:70580..14799157 [GRCh37]
Chr20:18580..14747157 [NCBI36]
Chr20:20p13-12.1		 pathogenic
GRCh37/hg19 20p13(chr20:71023-2129746)x1 copy number loss See cases [RCV000184090] Chr20:71023..2129746 [GRCh37]
Chr20:20p13		 pathogenic
GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3 copy number gain See cases [RCV000133996] Chr20:80106..30227427 [GRCh38]
Chr20:60747..29462103 [GRCh37]
Chr20:8747..28075764 [NCBI36]
Chr20:20p13-q11.1		 pathogenic
GRCh38/hg38 20p13(chr20:89939-1494113)x1 copy number loss See cases [RCV000135804] Chr20:89939..1494113 [GRCh38]
Chr20:70580..1474759 [GRCh37]
Chr20:18580..1422759 [NCBI36]
Chr20:20p13		 pathogenic
GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3 copy number gain See cases [RCV000135859] Chr20:99557..64277321 [GRCh38]
Chr20:80198..62908674 [GRCh37]
Chr20:28198..62379118 [NCBI36]
Chr20:20p13-q13.33		 pathogenic
GRCh38/hg38 20p13-12.1(chr20:80106-13029401)x3 copy number gain See cases [RCV000138677] Chr20:80106..13029401 [GRCh38]
Chr20:60747..13010049 [GRCh37]
Chr20:8747..12958049 [NCBI36]
Chr20:20p13-12.1		 pathogenic
GRCh38/hg38 20p13-12.3(chr20:80093-6386012)x3 copy number gain See cases [RCV000139597] Chr20:80093..6386012 [GRCh38]
Chr20:60734..6366659 [GRCh37]
Chr20:8734..6314659 [NCBI36]
Chr20:20p13-12.3		 pathogenic
GRCh38/hg38 20p13-12.3(chr20:84402-6159078)x3 copy number gain See cases [RCV000141348] Chr20:84402..6159078 [GRCh38]
Chr20:65043..6139725 [GRCh37]
Chr20:13043..6087725 [NCBI36]
Chr20:20p13-12.3		 pathogenic
GRCh38/hg38 20p13(chr20:209424-1852477)x3 copy number gain See cases [RCV000140876] Chr20:209424..1852477 [GRCh38]
Chr20:190065..1833123 [GRCh37]
Chr20:138065..1781123 [NCBI36]
Chr20:20p13		 uncertain significance
GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3 copy number gain See cases [RCV000142017] Chr20:80927..26324843 [GRCh38]
Chr20:61568..26305479 [GRCh37]
Chr20:9568..26253479 [NCBI36]
Chr20:20p13-11.1		 pathogenic
GRCh38/hg38 20p13-12.3(chr20:80927-5447679)x3 copy number gain See cases [RCV000142285] Chr20:80927..5447679 [GRCh38]
Chr20:61568..5428325 [GRCh37]
Chr20:9568..5376325 [NCBI36]
Chr20:20p13-12.3		 uncertain significance
GRCh38/hg38 20p13-12.3(chr20:1269303-8626911)x3 copy number gain See cases [RCV000142917] Chr20:1269303..8626911 [GRCh38]
Chr20:1249947..8607558 [GRCh37]
Chr20:1197947..8555558 [NCBI36]
Chr20:20p13-12.3		 pathogenic
GRCh38/hg38 20p13-11.23(chr20:80928-18688031)x3 copy number gain See cases [RCV000143426] Chr20:80928..18688031 [GRCh38]
Chr20:61569..18668675 [GRCh37]
Chr20:9569..18616675 [NCBI36]
Chr20:20p13-11.23		 pathogenic
GRCh38/hg38 20p13(chr20:80927-1806080)x1 copy number loss See cases [RCV000143700] Chr20:80927..1806080 [GRCh38]
Chr20:61568..1786726 [GRCh37]
Chr20:9568..1734726 [NCBI36]
Chr20:20p13		 likely pathogenic|uncertain significance
GRCh38/hg38 20p13(chr20:89939-1852477)x1 copy number loss See cases [RCV000148279] Chr20:89939..1852477 [GRCh38]
Chr20:70580..1833123 [GRCh37]
Chr20:18580..1781123 [NCBI36]
Chr20:20p13		 pathogenic
GRCh37/hg19 20p13-12.3(chr20:121521-5564937)x3 copy number gain See cases [RCV000239772] Chr20:121521..5564937 [GRCh37]
Chr20:20p13-12.3		 pathogenic
GRCh37/hg19 20p13-11.1(chr20:80198-26075841)x3 copy number gain See cases [RCV000239954] Chr20:80198..26075841 [GRCh37]
Chr20:20p13-11.1		 pathogenic
GRCh37/hg19 20p13(chr20:61568-4914872)x3 copy number gain See cases [RCV000446883] Chr20:61568..4914872 [GRCh37]
Chr20:20p13		 pathogenic
GRCh37/hg19 20p13(chr20:61568-1823540)x1 copy number loss See cases [RCV000446902] Chr20:61568..1823540 [GRCh37]
Chr20:20p13		 pathogenic
GRCh37/hg19 20p13(chr20:121521-2073612)x1 copy number loss See cases [RCV000446640] Chr20:121521..2073612 [GRCh37]
Chr20:20p13		 pathogenic
GRCh37/hg19 20p13(chr20:61568-1513319)x1 copy number loss See cases [RCV000445920] Chr20:61568..1513319 [GRCh37]
Chr20:20p13		 pathogenic
GRCh37/hg19 20p13(chr20:61568-4904599)x3 copy number gain See cases [RCV000448397] Chr20:61568..4904599 [GRCh37]
Chr20:20p13		 pathogenic
GRCh37/hg19 20p13-q11.21(chr20:80198-26208081)x3 copy number gain not provided [RCV000487461] Chr20:80198..26208081 [GRCh37]
Chr20:20p13-q11.21		 pathogenic
GRCh37/hg19 20p13-12.3(chr20:213423-5483406)x3 copy number gain See cases [RCV000510531] Chr20:213423..5483406 [GRCh37]
Chr20:20p13-12.3		 uncertain significance
GRCh37/hg19 20p13(chr20:61568-1651420)x1 copy number loss See cases [RCV000510423] Chr20:61568..1651420 [GRCh37]
Chr20:20p13		 likely pathogenic
GRCh37/hg19 20p13(chr20:61568-2824960)x3 copy number gain See cases [RCV000511991] Chr20:61568..2824960 [GRCh37]
Chr20:20p13		 uncertain significance
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3 copy number gain See cases [RCV000510832] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555) copy number gain See cases [RCV000512450] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-12.2(chr20:61568-10486106)x3 copy number gain See cases [RCV000512556] Chr20:61568..10486106 [GRCh37]
Chr20:20p13-12.2		 likely pathogenic
GRCh37/hg19 20p13(chr20:61568-2010334)x1 copy number loss not provided [RCV000684132] Chr20:61568..2010334 [GRCh37]
Chr20:20p13		 likely pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62961294)x3 copy number gain not provided [RCV000741059] Chr20:63244..62961294 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62912463)x3 copy number gain not provided [RCV000741057] Chr20:63244..62912463 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3 copy number gain not provided [RCV000741058] Chr20:63244..62948788 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13(chr20:61568-2269777)x1 copy number loss not provided [RCV001007065] Chr20:61568..2269777 [GRCh37]
Chr20:20p13		 pathogenic
GRCh37/hg19 20p13-11.1(chr20:61568-26305479)x3 copy number gain not provided [RCV001007068] Chr20:61568..26305479 [GRCh37]
Chr20:20p13-11.1		 pathogenic
NC_000020.11:g.1370028T>C single nucleotide variant not provided [RCV001617562] Chr20:1370028 [GRCh38]
Chr20:1350672 [GRCh37]
Chr20:20p13		 benign
NM_000801.5(FKBP1A):c.13G>A (p.Val5Met) single nucleotide variant not provided [RCV001357138] Chr20:1392986 [GRCh38]
Chr20:1373630 [GRCh37]
Chr20:20p13		 uncertain significance
GRCh37/hg19 20p13(chr20:61568-1823540) copy number loss not specified [RCV002052695] Chr20:61568..1823540 [GRCh37]
Chr20:20p13		 pathogenic
GRCh37/hg19 20p13(chr20:1015167-1403720)x3 copy number gain not provided [RCV002473606] Chr20:1015167..1403720 [GRCh37]
Chr20:20p13		 uncertain significance
GRCh37/hg19 20p13(chr20:992980-1481478)x4 copy number gain not provided [RCV002475623] Chr20:992980..1481478 [GRCh37]
Chr20:20p13		 uncertain significance
NM_000801.5(FKBP1A):c.28C>T (p.Pro10Ser) single nucleotide variant not specified [RCV004119142] Chr20:1392971 [GRCh38]
Chr20:1373615 [GRCh37]
Chr20:20p13		 uncertain significance
NM_000801.5(FKBP1A):c.280C>G (p.Pro94Ala) single nucleotide variant not specified [RCV004275631] Chr20:1372159 [GRCh38]
Chr20:1352803 [GRCh37]
Chr20:20p13		 uncertain significance
NM_000801.5(FKBP1A):c.288C>T (p.Ala96=) single nucleotide variant not specified [RCV004324920] Chr20:1372151 [GRCh38]
Chr20:1352795 [GRCh37]
Chr20:20p13		 likely benign
GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3 copy number gain Renal agenesis [RCV003327640] Chr20:87153..23635465 [GRCh38]
Chr20:20p13-11.21		 pathogenic
Single allele deletion not provided [RCV003448677] Chr20:61001..2316914 [GRCh37]
Chr20:20p13		 pathogenic
GRCh37/hg19 20p13(chr20:61569-1794919)x3 copy number gain not provided [RCV003485206] Chr20:61569..1794919 [GRCh37]
Chr20:20p13		 uncertain significance
GRCh37/hg19 20p13-12.2(chr20:61569-9542361)x3 copy number gain not provided [RCV003485207] Chr20:61569..9542361 [GRCh37]
Chr20:20p13-12.2		 pathogenic
GRCh37/hg19 20p13-12.1(chr20:68351-16142323)x3 copy number gain not provided [RCV003885494] Chr20:68351..16142323 [GRCh37]
Chr20:20p13-12.1		 pathogenic
GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3 copy number gain not provided [RCV003885495] Chr20:68351..23860313 [GRCh37]
Chr20:20p13-11.21		 pathogenic
NM_000801.5(FKBP1A):c.303T>C (p.Asp101=) single nucleotide variant not specified [RCV004386628] Chr20:1372136 [GRCh38]
Chr20:1352780 [GRCh37]
Chr20:20p13		 likely benign
NM_000801.5(FKBP1A):c.303T>A (p.Asp101Glu) single nucleotide variant not specified [RCV004623593] Chr20:1372136 [GRCh38]
Chr20:1352780 [GRCh37]
Chr20:20p13		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2215
Count of miRNA genes:809
Interacting mature miRNAs:946
Transcripts:ENST00000381715, ENST00000381719, ENST00000381724, ENST00000400137, ENST00000439640, ENST00000460490, ENST00000474657, ENST00000474726
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407265283GWAS914259_Hbody height QTL GWAS914259 (human)7e-10body height (VT:0001253)body height (CMO:0000106)2013700651370066Human
407300093GWAS949069_Hhearing loss QTL GWAS949069 (human)0.0000002hearing loss2013906911390692Human

Markers in Region
SGC35429  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37201,352,513 - 1,352,712UniSTSGRCh37
Build 36201,300,513 - 1,300,712RGDNCBI36
Celera201,448,858 - 1,449,057RGD
Cytogenetic Map20p13UniSTS
HuRef201,305,001 - 1,305,200UniSTS
GeneMap99-GB4 RH Map2010.51UniSTS
Whitehead-RH Map205.2UniSTS
NCBI RH Map2050.2UniSTS
RH68384  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37201,353,394 - 1,353,538UniSTSGRCh37
Build 36201,301,394 - 1,301,538RGDNCBI36
Celera201,449,739 - 1,449,883RGD
Cytogenetic Map20p13UniSTS
HuRef201,305,881 - 1,306,025UniSTS
GeneMap99-GB4 RH Map2010.83UniSTS
RH68934  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37201,350,427 - 1,350,639UniSTSGRCh37
GRCh371958,337,502 - 58,337,715UniSTSGRCh37
Build 361963,029,314 - 63,029,527RGDNCBI36
Celera1955,380,992 - 55,381,205UniSTS
Celera662,081,369 - 62,081,578RGD
Celera201,446,772 - 1,446,984UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map6q12UniSTS
Cytogenetic Map19q13.43UniSTS
HuRef661,101,823 - 61,102,032UniSTS
HuRef1954,649,197 - 54,649,410UniSTS
HuRef201,302,915 - 1,303,127UniSTS
D20S1003  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37201,352,747 - 1,352,886UniSTSGRCh37
GRCh37663,921,658 - 63,921,797UniSTSGRCh37
Build 36663,979,617 - 63,979,756RGDNCBI36
Celera201,449,092 - 1,449,231UniSTS
Celera662,081,125 - 62,081,264RGD
Cytogenetic Map20p13UniSTS
Cytogenetic Map6q12UniSTS
HuRef201,305,235 - 1,305,374UniSTS
HuRef661,101,579 - 61,101,718UniSTS
SHGC-32807  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371958,337,861 - 58,337,986UniSTSGRCh37
GRCh37663,921,631 - 63,921,756UniSTSGRCh37
Build 36663,979,590 - 63,979,715RGDNCBI36
Celera662,081,098 - 62,081,223UniSTS
Celera3147,593,545 - 147,593,682RGD
Celera1955,381,351 - 55,381,476UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map6q12UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map19q13.43UniSTS
HuRef661,101,552 - 61,101,677UniSTS
HuRef1954,649,556 - 54,649,681UniSTS
TNG Radiation Hybrid Map629724.0UniSTS
RH141052  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37663,921,731 - 63,921,949UniSTSGRCh37
Build 36663,979,690 - 63,979,908RGDNCBI36
Celera662,081,198 - 62,081,416RGD
HuRef661,101,652 - 61,101,870UniSTS
SGC33430  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37201,358,618 - 1,358,755UniSTSGRCh37
Build 36201,306,618 - 1,306,755RGDNCBI36
Celera201,454,964 - 1,455,101RGD
Cytogenetic Map20p13UniSTS
HuRef201,311,105 - 1,311,242UniSTS
GeneMap99-GB4 RH Map2010.3UniSTS
GeneMap99-GB4 RH Map209.57UniSTS
Whitehead-RH Map2019.9UniSTS
NCBI RH Map2028.2UniSTS
STS-X52220  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37201,352,536 - 1,352,674UniSTSGRCh37
Build 36201,300,536 - 1,300,674RGDNCBI36
Celera201,448,881 - 1,449,019RGD
Cytogenetic Map20p13UniSTS
HuRef201,305,024 - 1,305,162UniSTS
GeneMap99-GB4 RH Map2011.04UniSTS
RH40885  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map20p13UniSTS


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
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_000801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001199786 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_054014 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA731598 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB190794 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB241123 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB241124 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB241125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF205192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH002818 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI753994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL109658 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136531 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001925 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC005147 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC119732 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC119733 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT007066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU540706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA450516 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN426120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR407613 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR542168 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS081479 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CX870892 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D28444 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF456785 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M34539 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M80199 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M80204 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X52220 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X55741 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000381715   ⟹   ENSP00000371134
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl201,369,573 - 1,393,054 (-)Ensembl
Ensembl Acc Id: ENST00000381719   ⟹   ENSP00000371138
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl201,369,000 - 1,393,123 (-)Ensembl
Ensembl Acc Id: ENST00000381724   ⟹   ENSP00000371143
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl201,369,534 - 1,393,052 (-)Ensembl
Ensembl Acc Id: ENST00000400137   ⟹   ENSP00000383003
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl201,368,978 - 1,393,054 (-)Ensembl
Ensembl Acc Id: ENST00000439640   ⟹   ENSP00000409863
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl201,368,978 - 1,393,108 (-)Ensembl
Ensembl Acc Id: ENST00000460490
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl201,368,981 - 1,378,208 (-)Ensembl
Ensembl Acc Id: ENST00000474657
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl201,368,985 - 1,376,812 (-)Ensembl
Ensembl Acc Id: ENST00000474726
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl201,369,987 - 1,378,174 (-)Ensembl
Ensembl Acc Id: ENST00000612074   ⟹   ENSP00000480846
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl201,369,739 - 1,392,998 (-)Ensembl
Ensembl Acc Id: ENST00000614856   ⟹   ENSP00000482758
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl201,375,284 - 1,393,074 (-)Ensembl
Ensembl Acc Id: ENST00000618612   ⟹   ENSP00000478093
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl201,368,978 - 1,393,105 (-)Ensembl
Ensembl Acc Id: ENST00000677078
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl201,372,918 - 1,393,073 (-)Ensembl
Ensembl Acc Id: ENST00000677335   ⟹   ENSP00000503033
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl201,368,985 - 1,393,092 (-)Ensembl
Ensembl Acc Id: ENST00000677533   ⟹   ENSP00000503592
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl201,373,708 - 1,393,164 (-)Ensembl
Ensembl Acc Id: ENST00000677937
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl201,368,977 - 1,393,038 (-)Ensembl
Ensembl Acc Id: ENST00000678136   ⟹   ENSP00000503279
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl201,368,983 - 1,393,054 (-)Ensembl
Ensembl Acc Id: ENST00000678325
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl201,369,739 - 1,393,088 (-)Ensembl
Ensembl Acc Id: ENST00000678408   ⟹   ENSP00000503152
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl201,369,417 - 1,393,103 (-)Ensembl
Ensembl Acc Id: ENST00000679195
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl201,373,826 - 1,392,963 (-)Ensembl
RefSeq Acc Id: NM_000801   ⟹   NP_000792
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38201,368,978 - 1,393,054 (-)NCBI
GRCh37201,349,621 - 1,373,816 (-)ENTREZGENE
Build 36201,297,622 - 1,321,745 (-)NCBI Archive
HuRef201,302,109 - 1,326,302 (-)ENTREZGENE
CHM1_1201,349,285 - 1,373,817 (-)NCBI
T2T-CHM13v2.0201,418,161 - 1,442,241 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001199786   ⟹   NP_001186715
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38201,368,978 - 1,393,054 (-)NCBI
GRCh37201,349,621 - 1,373,816 (-)NCBI
HuRef201,302,109 - 1,326,302 (-)ENTREZGENE
CHM1_1201,349,285 - 1,373,817 (-)NCBI
T2T-CHM13v2.0201,418,161 - 1,442,241 (-)NCBI
Sequence:
RefSeq Acc Id: NM_054014   ⟹   NP_463460
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38201,371,716 - 1,393,054 (-)NCBI
GRCh37201,349,621 - 1,373,816 (-)ENTREZGENE
Build 36201,300,376 - 1,321,745 (-)NCBI Archive
HuRef201,302,109 - 1,326,302 (-)ENTREZGENE
CHM1_1201,352,019 - 1,373,817 (-)NCBI
T2T-CHM13v2.0201,420,898 - 1,442,241 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_000792 (Get FASTA)   NCBI Sequence Viewer  
  NP_001186715 (Get FASTA)   NCBI Sequence Viewer  
  NP_463460 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA35844 (Get FASTA)   NCBI Sequence Viewer  
  AAA58472 (Get FASTA)   NCBI Sequence Viewer  
  AAA58476 (Get FASTA)   NCBI Sequence Viewer  
  AAF17608 (Get FASTA)   NCBI Sequence Viewer  
  AAH01925 (Get FASTA)   NCBI Sequence Viewer  
  AAH05147 (Get FASTA)   NCBI Sequence Viewer  
  AAI19733 (Get FASTA)   NCBI Sequence Viewer  
  AAI19734 (Get FASTA)   NCBI Sequence Viewer  
  AAP35729 (Get FASTA)   NCBI Sequence Viewer  
  BAA05810 (Get FASTA)   NCBI Sequence Viewer  
  BAE44301 (Get FASTA)   NCBI Sequence Viewer  
  BAE94235 (Get FASTA)   NCBI Sequence Viewer  
  BAE94236 (Get FASTA)   NCBI Sequence Viewer  
  BAE94237 (Get FASTA)   NCBI Sequence Viewer  
  CAA36462 (Get FASTA)   NCBI Sequence Viewer  
  CAA39272 (Get FASTA)   NCBI Sequence Viewer  
  CAG28541 (Get FASTA)   NCBI Sequence Viewer  
  CAG46965 (Get FASTA)   NCBI Sequence Viewer  
  CAI95951 (Get FASTA)   NCBI Sequence Viewer  
  EAX10633 (Get FASTA)   NCBI Sequence Viewer  
  EAX10634 (Get FASTA)   NCBI Sequence Viewer  
  EAX10635 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000371134.2
  ENSP00000371138
  ENSP00000371138.3
  ENSP00000371143
  ENSP00000371143.4
  ENSP00000383003
  ENSP00000383003.4
  ENSP00000409863.2
  ENSP00000478093
  ENSP00000478093.1
  ENSP00000480846.1
  ENSP00000482758.2
  ENSP00000503033.1
  ENSP00000503152.1
  ENSP00000503279.1
  ENSP00000503592.1
GenBank Protein P62942 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001186715   ⟸   NM_001199786
- Peptide Label: isoform b
- UniProtKB: A0A087WTS4 (UniProtKB/TrEMBL),   Q1JUQ4 (UniProtKB/TrEMBL),   Q5W0X3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_000792   ⟸   NM_000801
- Peptide Label: isoform a
- UniProtKB: Q9H103 (UniProtKB/Swiss-Prot),   Q6LEU3 (UniProtKB/Swiss-Prot),   Q6FGD9 (UniProtKB/Swiss-Prot),   Q4VC47 (UniProtKB/Swiss-Prot),   P20071 (UniProtKB/Swiss-Prot),   D3DVW6 (UniProtKB/Swiss-Prot),   Q9H566 (UniProtKB/Swiss-Prot),   P62942 (UniProtKB/Swiss-Prot),   F6T7Q3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_463460   ⟸   NM_054014
- Peptide Label: isoform a
- UniProtKB: Q9H103 (UniProtKB/Swiss-Prot),   Q6LEU3 (UniProtKB/Swiss-Prot),   Q6FGD9 (UniProtKB/Swiss-Prot),   Q4VC47 (UniProtKB/Swiss-Prot),   P20071 (UniProtKB/Swiss-Prot),   D3DVW6 (UniProtKB/Swiss-Prot),   Q9H566 (UniProtKB/Swiss-Prot),   P62942 (UniProtKB/Swiss-Prot),   F6T7Q3 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000409863   ⟸   ENST00000439640
Ensembl Acc Id: ENSP00000383003   ⟸   ENST00000400137
Ensembl Acc Id: ENSP00000480846   ⟸   ENST00000612074
Ensembl Acc Id: ENSP00000482758   ⟸   ENST00000614856
Ensembl Acc Id: ENSP00000478093   ⟸   ENST00000618612
Ensembl Acc Id: ENSP00000371138   ⟸   ENST00000381719
Ensembl Acc Id: ENSP00000371134   ⟸   ENST00000381715
Ensembl Acc Id: ENSP00000371143   ⟸   ENST00000381724
Ensembl Acc Id: ENSP00000503592   ⟸   ENST00000677533
Ensembl Acc Id: ENSP00000503033   ⟸   ENST00000677335
Ensembl Acc Id: ENSP00000503152   ⟸   ENST00000678408
Ensembl Acc Id: ENSP00000503279   ⟸   ENST00000678136
Protein Domains
PPIase FKBP-type

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P62942-F1-model_v2 AlphaFold P62942 1-108 view protein structure

Promoters
RGD ID:6798777
Promoter ID:HG_KWN:38333
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000077536
Position:
Human AssemblyChrPosition (strand)Source
Build 36201,301,546 - 1,302,046 (-)MPROMDB
RGD ID:6798779
Promoter ID:HG_KWN:38334
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000077540
Position:
Human AssemblyChrPosition (strand)Source
Build 36201,304,656 - 1,305,156 (-)MPROMDB
RGD ID:6798780
Promoter ID:HG_KWN:38335
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:OTTHUMT00000077539
Position:
Human AssemblyChrPosition (strand)Source
Build 36201,307,316 - 1,307,816 (-)MPROMDB
RGD ID:6798802
Promoter ID:HG_KWN:38336
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000381715,   ENST00000381724,   NM_054014,   OTTHUMT00000077534,   UC002WEZ.1,   UC002WFB.1,   UC010GAC.1,   UC010GAD.1,   UC010GAE.1,   UC010GAF.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36201,321,534 - 1,322,034 (-)MPROMDB
RGD ID:6851022
Promoter ID:EP73308
Type:initiation region
Name:HS_FKBP1A
Description:FK506 binding protein 1A, 12kDa , transcript variant 12B.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 36201,321,730 - 1,321,790EPD
RGD ID:13206121
Promoter ID:EPDNEW_H26641
Type:initiation region
Name:FKBP1A_2
Description:FK506 binding protein 1A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H26642  EPDNEW_H26643  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38201,369,380 - 1,369,440EPDNEW
RGD ID:13206123
Promoter ID:EPDNEW_H26642
Type:initiation region
Name:FKBP1A_3
Description:FK506 binding protein 1A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H26641  EPDNEW_H26643  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38201,370,057 - 1,370,117EPDNEW
RGD ID:13206125
Promoter ID:EPDNEW_H26643
Type:initiation region
Name:FKBP1A_1
Description:FK506 binding protein 1A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H26641  EPDNEW_H26642  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38201,393,054 - 1,393,114EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3711 AgrOrtholog
COSMIC FKBP1A COSMIC
Ensembl Genes ENSG00000088832 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000381715.4 UniProtKB/TrEMBL
  ENST00000381719 ENTREZGENE
  ENST00000381719.8 UniProtKB/Swiss-Prot
  ENST00000381724 UniProtKB/TrEMBL
  ENST00000381724.8 UniProtKB/Swiss-Prot
  ENST00000400137 ENTREZGENE
  ENST00000400137.9 UniProtKB/Swiss-Prot
  ENST00000439640.5 UniProtKB/TrEMBL
  ENST00000612074.5 UniProtKB/TrEMBL
  ENST00000614856.2 UniProtKB/TrEMBL
  ENST00000618612 ENTREZGENE
  ENST00000618612.5 UniProtKB/TrEMBL
  ENST00000677335.1 UniProtKB/Swiss-Prot
  ENST00000677533.1 UniProtKB/TrEMBL
  ENST00000678136.1 UniProtKB/TrEMBL
  ENST00000678408.1 UniProtKB/Swiss-Prot
Gene3D-CATH 3.10.50.40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000088832 GTEx
HGNC ID HGNC:3711 ENTREZGENE
Human Proteome Map FKBP1A Human Proteome Map
InterPro FKBP-type_PPIase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PPIase_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PPIase_FKBP_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2280 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 2280 ENTREZGENE
OMIM 186945 OMIM
PANTHER PEPTIDYL-PROLYL CIS-TRANS ISOMERASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PEPTIDYL-PROLYL CIS-TRANS ISOMERASE FKBP1A-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam FKBP_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28153 PharmGKB
PROSITE FKBP_PPIASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP FKBP-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WTS4 ENTREZGENE, UniProtKB/TrEMBL
  A0A087WZM5_HUMAN UniProtKB/TrEMBL
  A0A7I2V3S6_HUMAN UniProtKB/TrEMBL
  D3DVW6 ENTREZGENE
  F6T7Q3 ENTREZGENE, UniProtKB/TrEMBL
  FKB1A_HUMAN UniProtKB/Swiss-Prot
  P20071 ENTREZGENE
  P62942 ENTREZGENE
  Q0VDC5_HUMAN UniProtKB/TrEMBL
  Q0VDC6_HUMAN UniProtKB/TrEMBL
  Q1JUQ3_HUMAN UniProtKB/TrEMBL
  Q1JUQ4 ENTREZGENE
  Q1JUQ5_HUMAN UniProtKB/TrEMBL
  Q4VC47 ENTREZGENE
  Q5W0X3 ENTREZGENE, UniProtKB/TrEMBL
  Q6FGD9 ENTREZGENE
  Q6LEU3 ENTREZGENE
  Q9H103 ENTREZGENE
  Q9H566 ENTREZGENE
UniProt Secondary D3DVW6 UniProtKB/Swiss-Prot
  P20071 UniProtKB/Swiss-Prot
  Q1JUQ4 UniProtKB/TrEMBL
  Q4VC47 UniProtKB/Swiss-Prot
  Q6FGD9 UniProtKB/Swiss-Prot
  Q6LEU3 UniProtKB/Swiss-Prot
  Q9H103 UniProtKB/Swiss-Prot
  Q9H566 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-11-06 FKBP1A  FKBP prolyl isomerase 1A  FKBP1A  FK506 binding protein 1A  Symbol and/or name change 5135510 APPROVED
2015-11-17 FKBP1A  FK506 binding protein 1A  FKBP1A  FK506 binding protein 1A, 12kDa  Symbol and/or name change 5135510 APPROVED