PTPRF (protein tyrosine phosphatase receptor type F) - Rat Genome Database

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Gene: PTPRF (protein tyrosine phosphatase receptor type F) Homo sapiens
Analyze
Symbol: PTPRF
Name: protein tyrosine phosphatase receptor type F
RGD ID: 734202
HGNC Page HGNC:9670
Description: Enables cell adhesion molecule binding activity and protein tyrosine phosphatase activity. Involved in cell migration and synaptic membrane adhesion. Located in extracellular exosome. Implicated in hyperinsulinism. Biomarker of obesity.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: BNAH2; FLJ43335; FLJ45062; FLJ45567; LAR; LCA-homolog; leukocyte antigen-related (LAR) PTP receptor; leukocyte antigen-related tyrosine phosphatase; leukocyte common antigen related; protein tyrosine phosphatase, receptor type, F polypeptide; receptor-linked protein-tyrosine phosphatase LAR; receptor-type tyrosine-protein phosphatase F
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38143,522,051 - 43,623,666 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl143,525,187 - 43,623,666 (+)EnsemblGRCh38hg38GRCh38
GRCh37143,991,708 - 44,089,337 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36143,769,134 - 43,861,930 (+)NCBINCBI36Build 36hg18NCBI36
Build 34143,665,639 - 43,758,427NCBI
Celera142,278,501 - 42,371,223 (+)NCBICelera
Cytogenetic Map1p34.2NCBI
HuRef142,115,737 - 42,210,000 (+)NCBIHuRef
CHM1_1144,112,964 - 44,205,662 (+)NCBICHM1_1
T2T-CHM13v2.0143,392,482 - 43,494,171 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(1->4)-beta-D-glucan  (ISO)
1,2-dimethylhydrazine  (ISO)
1,3-dinitrobenzene  (ISO)
17beta-estradiol  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-sulfonyldiphenol  (EXP)
4-hydroxyphenyl retinamide  (ISO)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (ISO)
6-propyl-2-thiouracil  (ISO)
8-Br-cAMP  (EXP)
acetamide  (ISO)
acrolein  (EXP)
acrylamide  (EXP,ISO)
aflatoxin B1  (EXP)
Aflatoxin B2 alpha  (EXP)
aldrin  (ISO)
all-trans-retinoic acid  (EXP)
alpha-pinene  (EXP)
amiodarone  (EXP,ISO)
ammonium chloride  (ISO)
antimycin A  (EXP)
arsenite(3-)  (EXP,ISO)
atrazine  (ISO)
azoxystrobin  (EXP)
benzbromarone  (ISO)
benzene  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP)
buspirone  (ISO)
butyric acid  (EXP)
cadmium dichloride  (ISO)
caffeine  (EXP)
calcitriol  (EXP)
carbamazepine  (EXP)
carbon nanotube  (ISO)
casticin  (ISO)
CGP 52608  (EXP)
chloropicrin  (EXP)
chlorpyrifos  (ISO)
choline  (ISO)
chromium(6+)  (ISO)
cisplatin  (EXP)
clobetasol  (ISO)
clofibrate  (ISO)
clofibric acid  (ISO)
cobalt dichloride  (EXP)
corn oil  (ISO)
coumarin  (EXP)
coumestrol  (EXP)
cyclosporin A  (EXP)
deguelin  (EXP)
dexamethasone  (EXP)
dicrotophos  (EXP)
doxorubicin  (EXP,ISO)
endosulfan  (ISO)
epoxiconazole  (ISO)
ethanol  (ISO)
fenofibrate  (ISO)
fipronil  (ISO)
flavonoids  (ISO)
flutamide  (ISO)
folic acid  (ISO)
fonofos  (EXP)
formaldehyde  (EXP)
fulvestrant  (EXP)
gallic acid  (EXP)
gentamycin  (ISO)
glutathione  (ISO)
glyphosate  (ISO)
graphite  (ISO)
indometacin  (EXP)
isoprenaline  (ISO)
ivermectin  (EXP)
ketoconazole  (ISO)
L-ethionine  (ISO)
L-methionine  (ISO)
lead(0)  (EXP)
lipopolysaccharide  (EXP)
maneb  (ISO)
methapyrilene  (EXP,ISO)
methoxychlor  (ISO)
methylmercury(1+)  (ISO)
N-nitrosodiethylamine  (ISO)
nefazodone  (ISO)
nimesulide  (ISO)
omeprazole  (ISO)
oxaliplatin  (ISO)
ozone  (EXP,ISO)
panobinostat  (EXP)
paracetamol  (EXP,ISO)
paraquat  (ISO)
parathion  (EXP)
perfluorohexanesulfonic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
permethrin  (EXP)
phenobarbital  (ISO)
phenylephrine  (ISO)
pirinixic acid  (ISO)
potassium dichromate  (EXP)
propiconazole  (ISO)
resveratrol  (EXP)
rotenone  (EXP,ISO)
SB 431542  (EXP)
sodium arsenite  (EXP)
sodium dichromate  (ISO)
sodium fluoride  (ISO)
Soman  (ISO)
sulindac sulfide  (EXP)
T-2 toxin  (EXP)
tamibarotene  (EXP)
temozolomide  (EXP)
terbufos  (EXP)
tetrachloromethane  (ISO)
thifluzamide  (EXP)
thioacetamide  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
Triptolide  (ISO)
triptonide  (ISO)
triticonazole  (ISO)
troglitazone  (ISO)
tunicamycin  (ISO)
valproic acid  (EXP)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

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

References - curated
# Reference Title Reference Citation
1. Purification, identification and subcellular distribution of three predominant protein-tyrosine phosphatase enzymes in skeletal muscle tissue. Ahmad F and Goldstein BJ, Biochim Biophys Acta. 1995 Apr 5;1248(1):57-69.
2. Increased abundance of specific skeletal muscle protein-tyrosine phosphatases in a genetic model of insulin-resistant obesity and diabetes mellitus. Ahmad F and Goldstein BJ, Metabolism. 1995 Sep;44(9):1175-84.
3. Increased abundance of the receptor-type protein-tyrosine phosphatase LAR accounts for the elevated insulin receptor dephosphorylating activity in adipose tissue of obese human subjects. Ahmad F, etal., J Clin Invest. 1995 Jun;95(6):2806-12.
4. Alterations in skeletal muscle protein-tyrosine phosphatase activity and expression in insulin-resistant human obesity and diabetes. Ahmad F, etal., J Clin Invest. 1997 Jul 15;100(2):449-58.
5. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
6. The allelic variant of LAR gene promoter -127 bp T-->A is associated with reduced risk of obesity and other features related to insulin resistance. Miscio G, etal., J Mol Med. 2004 Jul;82(7):459-66. Epub 2004 May 19.
7. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
8. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
9. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
10. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
11. Regulation of insulin receptor function. Youngren JF Cell Mol Life Sci. 2007 Apr;64(7-8):873-91.
12. Overexpression of the LAR (leukocyte antigen-related) protein-tyrosine phosphatase in muscle causes insulin resistance. Zabolotny JM, etal., Proc Natl Acad Sci U S A. 2001 Apr 24;98(9):5187-92. Epub 2001 Apr 17.
Additional References at PubMed
PMID:1321126   PMID:1486801   PMID:1695146   PMID:2554325   PMID:2972792   PMID:7558042   PMID:7665159   PMID:7796809   PMID:7929208   PMID:8524829   PMID:8621380   PMID:8643598  
PMID:8732688   PMID:8917069   PMID:8995282   PMID:9245795   PMID:9295285   PMID:9624153   PMID:9647658   PMID:10079136   PMID:10187801   PMID:10320483   PMID:10338209   PMID:10365916  
PMID:10395287   PMID:10660596   PMID:10777529   PMID:10822386   PMID:11121408   PMID:11158333   PMID:11245482   PMID:11931740   PMID:12095414   PMID:12176037   PMID:12376545   PMID:12477932  
PMID:12496362   PMID:12629171   PMID:14702039   PMID:15231748   PMID:15491607   PMID:15588985   PMID:15896785   PMID:16335952   PMID:16344560   PMID:16478662   PMID:17259169   PMID:17419996  
PMID:17803936   PMID:18925540   PMID:19199708   PMID:19910497   PMID:20139422   PMID:21697133   PMID:21873635   PMID:21875946   PMID:21976490   PMID:22357843   PMID:22959728   PMID:23358419  
PMID:23376485   PMID:23986473   PMID:24189400   PMID:24470239   PMID:24711643   PMID:24781087   PMID:24797263   PMID:25056061   PMID:25114248   PMID:25458010   PMID:25624497   PMID:25659154  
PMID:25737280   PMID:25921289   PMID:26186194   PMID:26291013   PMID:26321637   PMID:26344197   PMID:26439863   PMID:26496610   PMID:27576135   PMID:27880917   PMID:28330616   PMID:28514442  
PMID:28675297   PMID:28680062   PMID:29117863   PMID:29180619   PMID:29507755   PMID:29509190   PMID:29570275   PMID:29997244   PMID:30021884   PMID:30217560   PMID:30572598   PMID:30639242  
PMID:31073040   PMID:31615875   PMID:31616248   PMID:31799666   PMID:31871319   PMID:31980649   PMID:32355037   PMID:32614325   PMID:32807901   PMID:32973331   PMID:33845483   PMID:33961781  
PMID:34079125   PMID:34709727   PMID:34969357   PMID:35696571   PMID:35735010   PMID:35748872   PMID:35831314   PMID:35906200   PMID:36114006   PMID:36215168   PMID:36610398   PMID:36880596  
PMID:37499664   PMID:37827155   PMID:38117590  


Genomics

Comparative Map Data
PTPRF
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38143,522,051 - 43,623,666 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl143,525,187 - 43,623,666 (+)EnsemblGRCh38hg38GRCh38
GRCh37143,991,708 - 44,089,337 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36143,769,134 - 43,861,930 (+)NCBINCBI36Build 36hg18NCBI36
Build 34143,665,639 - 43,758,427NCBI
Celera142,278,501 - 42,371,223 (+)NCBICelera
Cytogenetic Map1p34.2NCBI
HuRef142,115,737 - 42,210,000 (+)NCBIHuRef
CHM1_1144,112,964 - 44,205,662 (+)NCBICHM1_1
T2T-CHM13v2.0143,392,482 - 43,494,171 (+)NCBIT2T-CHM13v2.0
Ptprf
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm394118,065,410 - 118,148,602 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl4118,065,410 - 118,148,602 (-)EnsemblGRCm39 Ensembl
GRCm384118,208,213 - 118,291,405 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4118,208,213 - 118,291,405 (-)EnsemblGRCm38mm10GRCm38
MGSCv374117,880,818 - 117,964,002 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv364117,707,733 - 117,775,378 (-)NCBIMGSCv36mm8
Celera4116,924,108 - 117,000,571 (-)NCBICelera
Cytogenetic Map4D2.1NCBI
cM Map454.47NCBI
Ptprf
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr85137,027,376 - 137,109,405 (-)NCBIGRCr8
mRatBN7.25131,741,959 - 131,824,000 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl5131,742,754 - 131,810,023 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx5134,450,662 - 134,517,838 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.05136,205,300 - 136,272,476 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.05136,227,709 - 136,294,886 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.05137,036,936 - 137,112,930 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl5137,036,935 - 137,112,927 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.05140,825,315 - 140,901,672 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45138,671,725 - 138,739,002 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.15138,676,940 - 138,744,228 (-)NCBI
Celera5130,289,962 - 130,357,275 (-)NCBICelera
Cytogenetic Map5q36NCBI
Ptprf
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555373,096,603 - 3,185,682 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555373,096,601 - 3,185,682 (+)NCBIChiLan1.0ChiLan1.0
PTPRF
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21183,187,925 - 183,286,181 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11182,329,316 - 182,427,574 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0142,878,344 - 42,923,539 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1144,202,298 - 44,299,309 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl144,220,991 - 44,297,647 (+)Ensemblpanpan1.1panPan2
PTPRF
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11516,590,908 - 16,666,673 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1516,591,308 - 16,666,673 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1516,715,596 - 16,802,435 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01516,749,545 - 16,780,639 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1516,750,317 - 16,773,577 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11516,547,414 - 16,635,530 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01516,616,690 - 16,703,670 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01516,689,993 - 16,777,132 (-)NCBIUU_Cfam_GSD_1.0
Ptprf
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505859,083,308 - 59,159,896 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647424,908,120 - 24,983,330 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647424,908,103 - 24,984,678 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PTPRF
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl6167,657,680 - 167,743,721 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.16167,656,674 - 167,743,750 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.26155,043,861 - 155,112,457 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PTPRF
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12089,192,426 - 89,284,989 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2089,191,660 - 89,284,970 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603327,638,913 - 27,731,698 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ptprf
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248922,825,771 - 2,932,854 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PTPRF
141 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1p34.2-34.1(chr1:40693289-44514104)x1 copy number loss See cases [RCV000050706] Chr1:40693289..44514104 [GRCh38]
Chr1:41158961..44979776 [GRCh37]
Chr1:40931548..44752363 [NCBI36]
Chr1:1p34.2-34.1		 pathogenic
GRCh38/hg38 1p34.3-33(chr1:39479787-47688131)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051817]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051817]|See cases [RCV000051817] Chr1:39479787..47688131 [GRCh38]
Chr1:39945459..48153803 [GRCh37]
Chr1:39718046..47926390 [NCBI36]
Chr1:1p34.3-33		 pathogenic
GRCh38/hg38 1p34.3-34.1(chr1:38222737-45636176)x3 copy number gain See cases [RCV000051803] Chr1:38222737..45636176 [GRCh38]
Chr1:38688409..46101848 [GRCh37]
Chr1:38460996..45874435 [NCBI36]
Chr1:1p34.3-34.1		 pathogenic
GRCh38/hg38 1p34.2-34.1(chr1:40462415-44668040)x1 copy number loss See cases [RCV000053837] Chr1:40462415..44668040 [GRCh38]
Chr1:40928087..45133712 [GRCh37]
Chr1:40700674..44906299 [NCBI36]
Chr1:1p34.2-34.1		 pathogenic
NM_002840.3(PTPRF):c.4004C>T (p.Thr1335Ile) single nucleotide variant Malignant melanoma [RCV000060196] Chr1:43613648 [GRCh38]
Chr1:44079319 [GRCh37]
Chr1:43851906 [NCBI36]
Chr1:1p34.2		 not provided
NM_002840.3(PTPRF):c.4005C>T (p.Thr1335=) single nucleotide variant Malignant melanoma [RCV000060197] Chr1:43613649 [GRCh38]
Chr1:44079320 [GRCh37]
Chr1:43851907 [NCBI36]
Chr1:1p34.2		 not provided
NM_002840.5(PTPRF):c.1847_1848del (p.Val616fs) microsatellite Breasts and/or nipples, aplasia or hypoplasia of, 2 [RCV000144043] Chr1:43597775..43597776 [GRCh38]
Chr1:44063446..44063447 [GRCh37]
Chr1:1p34.2		 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 1p34.2-34.1(chr1:42914303-45001279)x1 copy number loss See cases [RCV000446029] Chr1:42914303..45001279 [GRCh37]
Chr1:1p34.2-34.1		 pathogenic
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
NM_002840.5(PTPRF):c.1423G>A (p.Val475Met) single nucleotide variant Inborn genetic diseases [RCV003258339] Chr1:43591445 [GRCh38]
Chr1:44057116 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_002840.5(PTPRF):c.230G>A (p.Arg77His) single nucleotide variant Inborn genetic diseases [RCV003240064] Chr1:43553630 [GRCh38]
Chr1:44019301 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_002840.5(PTPRF):c.4761G>C (p.Arg1587Ser) single nucleotide variant Inborn genetic diseases [RCV003255782] Chr1:43619402 [GRCh38]
Chr1:44085073 [GRCh37]
Chr1:1p34.2		 uncertain significance
NC_000001.10:g.(?_33241563)_(46663513_?)dup duplication Charcot-Marie-Tooth disease dominant intermediate C [RCV000708276] Chr1:33241563..46663513 [GRCh37]
Chr1:1p35.1-34.1		 uncertain significance
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
NM_002840.5(PTPRF):c.1827T>A (p.Pro609=) single nucleotide variant not provided [RCV000923936] Chr1:43597761 [GRCh38]
Chr1:44063432 [GRCh37]
Chr1:1p34.2		 likely benign
NM_002840.5(PTPRF):c.4821T>C (p.Ala1607=) single nucleotide variant not provided [RCV000929585] Chr1:43619462 [GRCh38]
Chr1:44085133 [GRCh37]
Chr1:1p34.2		 benign
NM_002840.5(PTPRF):c.4407C>T (p.Thr1469=) single nucleotide variant not provided [RCV000904269] Chr1:43618665 [GRCh38]
Chr1:44084336 [GRCh37]
Chr1:1p34.2		 likely benign
NM_002840.5(PTPRF):c.2526A>G (p.Pro842=) single nucleotide variant PTPRF-related condition [RCV003910790]|not provided [RCV000903490] Chr1:43603678 [GRCh38]
Chr1:44069349 [GRCh37]
Chr1:1p34.2		 benign|likely benign
NM_002840.5(PTPRF):c.786C>T (p.Tyr262=) single nucleotide variant not provided [RCV000975451] Chr1:43588837 [GRCh38]
Chr1:44054508 [GRCh37]
Chr1:1p34.2		 likely benign
NM_002840.5(PTPRF):c.237+5G>A single nucleotide variant not provided [RCV000892351] Chr1:43553642 [GRCh38]
Chr1:44019313 [GRCh37]
Chr1:1p34.2		 benign
NM_002840.5(PTPRF):c.4911C>T (p.Thr1637=) single nucleotide variant not provided [RCV000971251] Chr1:43619552 [GRCh38]
Chr1:44085223 [GRCh37]
Chr1:1p34.2		 likely benign
NM_002840.5(PTPRF):c.4539C>T (p.Ala1513=) single nucleotide variant not provided [RCV000901508] Chr1:43619095 [GRCh38]
Chr1:44084766 [GRCh37]
Chr1:1p34.2		 benign
NM_002840.5(PTPRF):c.5136A>C (p.Thr1712=) single nucleotide variant PTPRF-related condition [RCV003912873]|not provided [RCV000901509] Chr1:43620119 [GRCh38]
Chr1:44085790 [GRCh37]
Chr1:1p34.2		 benign
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
NM_002840.5(PTPRF):c.1668+9C>T single nucleotide variant not provided [RCV000963754] Chr1:43591957 [GRCh38]
Chr1:44057628 [GRCh37]
Chr1:1p34.2		 benign
NM_002840.5(PTPRF):c.1257C>T (p.Arg419=) single nucleotide variant not provided [RCV000980533] Chr1:43591279 [GRCh38]
Chr1:44056950 [GRCh37]
Chr1:1p34.2		 likely benign
NM_002840.5(PTPRF):c.2825C>T (p.Ala942Val) single nucleotide variant not provided [RCV000953642] Chr1:43603977 [GRCh38]
Chr1:44069648 [GRCh37]
Chr1:1p34.2		 benign
NM_002840.5(PTPRF):c.1647G>A (p.Ala549=) single nucleotide variant not provided [RCV000895083] Chr1:43591927 [GRCh38]
Chr1:44057598 [GRCh37]
Chr1:1p34.2		 likely benign
NM_002840.5(PTPRF):c.3483+3A>G single nucleotide variant not provided [RCV000980947] Chr1:43605625 [GRCh38]
Chr1:44071296 [GRCh37]
Chr1:1p34.2		 likely benign
NM_002840.5(PTPRF):c.2709G>A (p.Glu903=) single nucleotide variant not provided [RCV000924718] Chr1:43603861 [GRCh38]
Chr1:44069532 [GRCh37]
Chr1:1p34.2		 likely benign
NM_002840.5(PTPRF):c.4077C>T (p.Ile1359=) single nucleotide variant not provided [RCV000896450] Chr1:43617450 [GRCh38]
Chr1:44083121 [GRCh37]
Chr1:1p34.2		 likely benign
NM_002840.5(PTPRF):c.1531+9G>A single nucleotide variant PTPRF-related condition [RCV003983265]|not provided [RCV000906203] Chr1:43591562 [GRCh38]
Chr1:44057233 [GRCh37]
Chr1:1p34.2		 benign|likely benign
NM_002840.5(PTPRF):c.4832G>T (p.Gly1611Val) single nucleotide variant not specified [RCV000791076] Chr1:43619473 [GRCh38]
Chr1:44085144 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_002840.5(PTPRF):c.663G>A (p.Ala221=) single nucleotide variant PTPRF-related condition [RCV003936203]|not provided [RCV000976517] Chr1:43578904 [GRCh38]
Chr1:44044575 [GRCh37]
Chr1:1p34.2		 benign
GRCh37/hg19 1p34.2-34.1(chr1:43336799-44713202)x1 copy number loss not provided [RCV000850001] Chr1:43336799..44713202 [GRCh37]
Chr1:1p34.2-34.1		 pathogenic
GRCh37/hg19 1p34.2-34.1(chr1:43787578-44221212)x3 copy number gain not provided [RCV000847475] Chr1:43787578..44221212 [GRCh37]
Chr1:1p34.2-34.1		 uncertain significance
NM_002840.5(PTPRF):c.5190C>A (p.His1730Gln) single nucleotide variant Breasts and/or nipples, aplasia or hypoplasia of, 2 [RCV000986294] Chr1:43620173 [GRCh38]
Chr1:44085844 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_002840.5(PTPRF):c.3331A>G (p.Ile1111Val) single nucleotide variant Inborn genetic diseases [RCV003241197] Chr1:43605385 [GRCh38]
Chr1:44071056 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_002840.5(PTPRF):c.4161C>T (p.Tyr1387=) single nucleotide variant Inborn genetic diseases [RCV003274867] Chr1:43617534 [GRCh38]
Chr1:44083205 [GRCh37]
Chr1:1p34.2		 likely benign
NM_002840.5(PTPRF):c.1960C>T (p.Arg654Cys) single nucleotide variant Inborn genetic diseases [RCV003292353] Chr1:43597894 [GRCh38]
Chr1:44063565 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_002840.5(PTPRF):c.4595G>A (p.Arg1532Gln) single nucleotide variant Inborn genetic diseases [RCV003292052] Chr1:43619151 [GRCh38]
Chr1:44084822 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_002840.5(PTPRF):c.1903C>T (p.Arg635Cys) single nucleotide variant PTPRF-related condition [RCV003932922]|not provided [RCV000907090] Chr1:43597837 [GRCh38]
Chr1:44063508 [GRCh37]
Chr1:1p34.2		 benign
NM_002840.5(PTPRF):c.1113C>T (p.Thr371=) single nucleotide variant not provided [RCV000892142] Chr1:43591135 [GRCh38]
Chr1:44056806 [GRCh37]
Chr1:1p34.2		 benign
NM_002840.5(PTPRF):c.5666A>G (p.Gln1889Arg) single nucleotide variant not provided [RCV000980615] Chr1:43621945 [GRCh38]
Chr1:44087616 [GRCh37]
Chr1:1p34.2		 likely benign
NM_002840.5(PTPRF):c.3974-9C>T single nucleotide variant not provided [RCV000974837] Chr1:43613609 [GRCh38]
Chr1:44079280 [GRCh37]
Chr1:1p34.2		 benign
NM_002840.5(PTPRF):c.3876G>A (p.Pro1292=) single nucleotide variant not provided [RCV000879534] Chr1:43609401 [GRCh38]
Chr1:44075072 [GRCh37]
Chr1:1p34.2		 benign
NM_002840.5(PTPRF):c.4620C>T (p.Asp1540=) single nucleotide variant not provided [RCV000908707] Chr1:43619176 [GRCh38]
Chr1:44084847 [GRCh37]
Chr1:1p34.2		 likely benign
NM_002840.5(PTPRF):c.1066G>T (p.Ala356Ser) single nucleotide variant not provided [RCV000910250] Chr1:43591088 [GRCh38]
Chr1:44056759 [GRCh37]
Chr1:1p34.2		 likely benign
NM_002840.5(PTPRF):c.2124C>T (p.Pro708=) single nucleotide variant not provided [RCV000907482] Chr1:43598724 [GRCh38]
Chr1:44064395 [GRCh37]
Chr1:1p34.2		 likely benign
NM_002840.5(PTPRF):c.5678G>A (p.Arg1893His) single nucleotide variant not provided [RCV000908232] Chr1:43621957 [GRCh38]
Chr1:44087628 [GRCh37]
Chr1:1p34.2		 likely benign
NM_002840.5(PTPRF):c.234C>T (p.Phe78=) single nucleotide variant not provided [RCV000955705] Chr1:43553634 [GRCh38]
Chr1:44019305 [GRCh37]
Chr1:1p34.2		 benign
NM_002840.5(PTPRF):c.4977C>T (p.Ala1659=) single nucleotide variant not provided [RCV000955706] Chr1:43619724 [GRCh38]
Chr1:44085395 [GRCh37]
Chr1:1p34.2		 benign
NM_002840.5(PTPRF):c.1668+10G>C single nucleotide variant not provided [RCV000911772] Chr1:43591958 [GRCh38]
Chr1:44057629 [GRCh37]
Chr1:1p34.2		 benign
NM_002840.5(PTPRF):c.4516C>G (p.Leu1506Val) single nucleotide variant not provided [RCV000912168] Chr1:43619072 [GRCh38]
Chr1:44084743 [GRCh37]
Chr1:1p34.2		 likely benign
NM_002840.5(PTPRF):c.3526C>T (p.Arg1176Trp) single nucleotide variant not provided [RCV001573265] Chr1:43606282 [GRCh38]
Chr1:44071953 [GRCh37]
Chr1:1p34.2		 uncertain significance
NC_000001.10:g.(?_33241563)_(46663513_?)dup duplication Charcot-Marie-Tooth disease, dominant intermediate C [RCV001308684] Chr1:33241563..46663513 [GRCh37]
Chr1:1p35.1-34.1		 uncertain significance
NM_002840.5(PTPRF):c.1806C>A (p.Ala602=) single nucleotide variant PTPRF-related condition [RCV003976154]|not provided [RCV001754487] Chr1:43592594 [GRCh38]
Chr1:44058265 [GRCh37]
Chr1:1p34.2		 benign
GRCh37/hg19 1p35.1-33(chr1:33285582-47891811) copy number gain not specified [RCV002052781] Chr1:33285582..47891811 [GRCh37]
Chr1:1p35.1-33		 pathogenic
NC_000001.10:g.(?_42922237)_(44395893_?)del deletion not provided [RCV001939188] Chr1:42922237..44395893 [GRCh37]
Chr1:1p34.2-34.1		 pathogenic
NM_002840.5(PTPRF):c.3478G>A (p.Asp1160Asn) single nucleotide variant Inborn genetic diseases [RCV003300432] Chr1:43605617 [GRCh38]
Chr1:44071288 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_002840.5(PTPRF):c.3463G>A (p.Glu1155Lys) single nucleotide variant Inborn genetic diseases [RCV002972963] Chr1:43605602 [GRCh38]
Chr1:44071273 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_002840.5(PTPRF):c.1220G>A (p.Arg407His) single nucleotide variant Inborn genetic diseases [RCV002973679] Chr1:43591242 [GRCh38]
Chr1:44056913 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_002840.5(PTPRF):c.3344G>A (p.Arg1115His) single nucleotide variant Inborn genetic diseases [RCV002734195] Chr1:43605398 [GRCh38]
Chr1:44071069 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_002840.5(PTPRF):c.1754G>A (p.Arg585His) single nucleotide variant Inborn genetic diseases [RCV002901386] Chr1:43592542 [GRCh38]
Chr1:44058213 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_002840.5(PTPRF):c.3647C>T (p.Pro1216Leu) single nucleotide variant Inborn genetic diseases [RCV002973954] Chr1:43606403 [GRCh38]
Chr1:44072074 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_002840.5(PTPRF):c.5104G>A (p.Gly1702Ser) single nucleotide variant Inborn genetic diseases [RCV002968979] Chr1:43619851 [GRCh38]
Chr1:44085522 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_002840.5(PTPRF):c.1606C>G (p.Pro536Ala) single nucleotide variant Inborn genetic diseases [RCV002817109] Chr1:43591886 [GRCh38]
Chr1:44057557 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_002840.5(PTPRF):c.4040A>G (p.Asn1347Ser) single nucleotide variant Inborn genetic diseases [RCV002837445] Chr1:43613684 [GRCh38]
Chr1:44079355 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_002840.5(PTPRF):c.199A>C (p.Met67Leu) single nucleotide variant Inborn genetic diseases [RCV002682057] Chr1:43553599 [GRCh38]
Chr1:44019270 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_002840.5(PTPRF):c.251A>G (p.Asp84Gly) single nucleotide variant Inborn genetic diseases [RCV002689751] Chr1:43553813 [GRCh38]
Chr1:44019484 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_002840.5(PTPRF):c.3026C>T (p.Pro1009Leu) single nucleotide variant Inborn genetic diseases [RCV002688516] Chr1:43604178 [GRCh38]
Chr1:44069849 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_002840.5(PTPRF):c.2318G>A (p.Arg773Gln) single nucleotide variant Inborn genetic diseases [RCV002661733] Chr1:43602075 [GRCh38]
Chr1:44067746 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_002840.5(PTPRF):c.3523C>T (p.Arg1175Trp) single nucleotide variant Inborn genetic diseases [RCV002870654] Chr1:43606279 [GRCh38]
Chr1:44071950 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_002840.5(PTPRF):c.1079A>G (p.Glu360Gly) single nucleotide variant Inborn genetic diseases [RCV002884595] Chr1:43591101 [GRCh38]
Chr1:44056772 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_002840.5(PTPRF):c.3614A>G (p.Asn1205Ser) single nucleotide variant Inborn genetic diseases [RCV002951682] Chr1:43606370 [GRCh38]
Chr1:44072041 [GRCh37]
Chr1:1p34.2		 likely benign
NM_002840.5(PTPRF):c.1396A>C (p.Asn466His) single nucleotide variant Inborn genetic diseases [RCV002844356] Chr1:43591418 [GRCh38]
Chr1:44057089 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_002840.5(PTPRF):c.1397A>C (p.Asn466Thr) single nucleotide variant Inborn genetic diseases [RCV002822844] Chr1:43591419 [GRCh38]
Chr1:44057090 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_002840.5(PTPRF):c.2088C>A (p.Ser696Arg) single nucleotide variant Inborn genetic diseases [RCV002782580] Chr1:43598022 [GRCh38]
Chr1:44063693 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_002840.5(PTPRF):c.462G>A (p.Met154Ile) single nucleotide variant Inborn genetic diseases [RCV002888780] Chr1:43569672 [GRCh38]
Chr1:44035343 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_002840.5(PTPRF):c.1399A>C (p.Thr467Pro) single nucleotide variant Inborn genetic diseases [RCV002822845] Chr1:43591421 [GRCh38]
Chr1:44057092 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_002840.5(PTPRF):c.5052G>C (p.Gln1684His) single nucleotide variant Inborn genetic diseases [RCV002823109] Chr1:43619799 [GRCh38]
Chr1:44085470 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_002840.5(PTPRF):c.500C>A (p.Ser167Tyr) single nucleotide variant Inborn genetic diseases [RCV002844796] Chr1:43569710 [GRCh38]
Chr1:44035381 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_002840.5(PTPRF):c.2641G>A (p.Gly881Ser) single nucleotide variant Inborn genetic diseases [RCV002980087] Chr1:43603793 [GRCh38]
Chr1:44069464 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_002840.5(PTPRF):c.658C>T (p.Pro220Ser) single nucleotide variant Inborn genetic diseases [RCV002830603] Chr1:43578899 [GRCh38]
Chr1:44044570 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_002840.5(PTPRF):c.2672G>A (p.Arg891Gln) single nucleotide variant Inborn genetic diseases [RCV002875022] Chr1:43603824 [GRCh38]
Chr1:44069495 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_002840.5(PTPRF):c.3091A>G (p.Ser1031Gly) single nucleotide variant Inborn genetic diseases [RCV002742875] Chr1:43604956 [GRCh38]
Chr1:44070627 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_002840.5(PTPRF):c.3443C>T (p.Thr1148Met) single nucleotide variant Inborn genetic diseases [RCV002666510] Chr1:43605582 [GRCh38]
Chr1:44071253 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_002840.5(PTPRF):c.2652G>C (p.Lys884Asn) single nucleotide variant Inborn genetic diseases [RCV002826805] Chr1:43603804 [GRCh38]
Chr1:44069475 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_002840.5(PTPRF):c.4274G>C (p.Gly1425Ala) single nucleotide variant Inborn genetic diseases [RCV002916375] Chr1:43617814 [GRCh38]
Chr1:44083485 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_002840.5(PTPRF):c.1954G>A (p.Glu652Lys) single nucleotide variant Inborn genetic diseases [RCV003006850] Chr1:43597888 [GRCh38]
Chr1:44063559 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_002840.5(PTPRF):c.4400G>A (p.Arg1467His) single nucleotide variant Inborn genetic diseases [RCV002804963] Chr1:43618658 [GRCh38]
Chr1:44084329 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_002840.5(PTPRF):c.3670G>T (p.Val1224Leu) single nucleotide variant Inborn genetic diseases [RCV002941118] Chr1:43606426 [GRCh38]
Chr1:44072097 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_002840.5(PTPRF):c.4912G>A (p.Ala1638Thr) single nucleotide variant Inborn genetic diseases [RCV002896514] Chr1:43619553 [GRCh38]
Chr1:44085224 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_002840.5(PTPRF):c.4654G>T (p.Val1552Leu) single nucleotide variant Inborn genetic diseases [RCV002897087] Chr1:43619295 [GRCh38]
Chr1:44084966 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_002840.5(PTPRF):c.2588C>T (p.Ala863Val) single nucleotide variant Inborn genetic diseases [RCV002987962] Chr1:43603740 [GRCh38]
Chr1:44069411 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_002840.5(PTPRF):c.5176A>G (p.Met1726Val) single nucleotide variant Inborn genetic diseases [RCV002719148] Chr1:43620159 [GRCh38]
Chr1:44085830 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_002840.5(PTPRF):c.1233G>C (p.Gln411His) single nucleotide variant Inborn genetic diseases [RCV002919939] Chr1:43591255 [GRCh38]
Chr1:44056926 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_002840.5(PTPRF):c.3430G>A (p.Gly1144Arg) single nucleotide variant Inborn genetic diseases [RCV002673427] Chr1:43605569 [GRCh38]
Chr1:44071240 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_002840.5(PTPRF):c.2656A>G (p.Thr886Ala) single nucleotide variant Inborn genetic diseases [RCV002836153] Chr1:43603808 [GRCh38]
Chr1:44069479 [GRCh37]
Chr1:1p34.2		 likely benign
NM_002840.5(PTPRF):c.4510C>T (p.Arg1504Cys) single nucleotide variant Inborn genetic diseases [RCV002959996] Chr1:43619066 [GRCh38]
Chr1:44084737 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_002840.5(PTPRF):c.2867G>A (p.Arg956Gln) single nucleotide variant Inborn genetic diseases [RCV002963926] Chr1:43604019 [GRCh38]
Chr1:44069690 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_002840.5(PTPRF):c.1555C>A (p.Gln519Lys) single nucleotide variant Inborn genetic diseases [RCV002714630] Chr1:43591835 [GRCh38]
Chr1:44057506 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_002840.5(PTPRF):c.3499G>A (p.Glu1167Lys) single nucleotide variant Inborn genetic diseases [RCV002655600] Chr1:43606255 [GRCh38]
Chr1:44071926 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_002840.5(PTPRF):c.3619C>T (p.Arg1207Trp) single nucleotide variant Inborn genetic diseases [RCV002677891] Chr1:43606375 [GRCh38]
Chr1:44072046 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_002840.5(PTPRF):c.4000A>G (p.Ile1334Val) single nucleotide variant Inborn genetic diseases [RCV003255780] Chr1:43613644 [GRCh38]
Chr1:44079315 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_002840.5(PTPRF):c.4753T>G (p.Ser1585Ala) single nucleotide variant Inborn genetic diseases [RCV003255781] Chr1:43619394 [GRCh38]
Chr1:44085065 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_002840.5(PTPRF):c.93C>G (p.Ser31Arg) single nucleotide variant Inborn genetic diseases [RCV003180301] Chr1:43553493 [GRCh38]
Chr1:44019164 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_002840.5(PTPRF):c.3533G>A (p.Arg1178Gln) single nucleotide variant Inborn genetic diseases [RCV003209158] Chr1:43606289 [GRCh38]
Chr1:44071960 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_002840.5(PTPRF):c.1163G>A (p.Arg388His) single nucleotide variant Inborn genetic diseases [RCV003213489] Chr1:43591185 [GRCh38]
Chr1:44056856 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_002840.5(PTPRF):c.1366C>T (p.Arg456Cys) single nucleotide variant Inborn genetic diseases [RCV003203623] Chr1:43591388 [GRCh38]
Chr1:44057059 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_002840.5(PTPRF):c.3739G>A (p.Val1247Met) single nucleotide variant Inborn genetic diseases [RCV003202640] Chr1:43606850 [GRCh38]
Chr1:44072521 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_002840.5(PTPRF):c.4831G>A (p.Gly1611Ser) single nucleotide variant Inborn genetic diseases [RCV003185120] Chr1:43619472 [GRCh38]
Chr1:44085143 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_002840.5(PTPRF):c.1644G>T (p.Trp548Cys) single nucleotide variant Inborn genetic diseases [RCV003357813] Chr1:43591924 [GRCh38]
Chr1:44057595 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_002840.5(PTPRF):c.5339G>A (p.Arg1780His) single nucleotide variant Inborn genetic diseases [RCV003345100] Chr1:43620554 [GRCh38]
Chr1:44086225 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_002840.5(PTPRF):c.953T>C (p.Leu318Pro) single nucleotide variant Inborn genetic diseases [RCV003364402] Chr1:43590975 [GRCh38]
Chr1:44056646 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_002840.5(PTPRF):c.5029G>A (p.Glu1677Lys) single nucleotide variant Inborn genetic diseases [RCV003384807] Chr1:43619776 [GRCh38]
Chr1:44085447 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_002840.5(PTPRF):c.29C>T (p.Thr10Met) single nucleotide variant Inborn genetic diseases [RCV003366801] Chr1:43545104 [GRCh38]
Chr1:44010775 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_002840.5(PTPRF):c.5306T>C (p.Met1769Thr) single nucleotide variant Inborn genetic diseases [RCV003369048] Chr1:43620521 [GRCh38]
Chr1:44086192 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_002840.5(PTPRF):c.55G>A (p.Val19Met) single nucleotide variant Inborn genetic diseases [RCV003363398] Chr1:43545130 [GRCh38]
Chr1:44010801 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_002840.5(PTPRF):c.3246C>A (p.Ser1082Arg) single nucleotide variant Inborn genetic diseases [RCV003347541] Chr1:43605300 [GRCh38]
Chr1:44070971 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_002840.5(PTPRF):c.3901G>A (p.Gly1301Arg) single nucleotide variant Inborn genetic diseases [RCV003384538] Chr1:43609426 [GRCh38]
Chr1:44075097 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_002840.5(PTPRF):c.3427G>A (p.Gly1143Ser) single nucleotide variant Inborn genetic diseases [RCV003352547] Chr1:43605566 [GRCh38]
Chr1:44071237 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_002840.5(PTPRF):c.3343C>T (p.Arg1115Cys) single nucleotide variant Inborn genetic diseases [RCV003350010] Chr1:43605397 [GRCh38]
Chr1:44071068 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_002840.5(PTPRF):c.3292G>A (p.Asp1098Asn) single nucleotide variant Inborn genetic diseases [RCV003366140] Chr1:43605346 [GRCh38]
Chr1:44071017 [GRCh37]
Chr1:1p34.2		 uncertain significance
Single allele inversion Bilateral polymicrogyria [RCV003459046] Chr1:33246132..61045156 [GRCh38]
Chr1:1p35.1-31.3		 likely pathogenic
NM_002840.5(PTPRF):c.1944G>A (p.Ala648=) single nucleotide variant not provided [RCV003406435] Chr1:43597878 [GRCh38]
Chr1:44063549 [GRCh37]
Chr1:1p34.2		 likely benign
NM_002840.5(PTPRF):c.2109C>T (p.Thr703=) single nucleotide variant not provided [RCV003406436] Chr1:43598043 [GRCh38]
Chr1:44063714 [GRCh37]
Chr1:1p34.2		 likely benign
NM_002840.5(PTPRF):c.78C>T (p.Gly26=) single nucleotide variant not provided [RCV003406434] Chr1:43545153 [GRCh38]
Chr1:44010824 [GRCh37]
Chr1:1p34.2		 likely benign
NM_002840.5(PTPRF):c.1377G>A (p.Pro459=) single nucleotide variant PTPRF-related condition [RCV003939753] Chr1:43591399 [GRCh38]
Chr1:44057070 [GRCh37]
Chr1:1p34.2		 likely benign
GRCh38/hg38 1p34.2(chr1:42278946-43598390) copy number loss Epilepsy syndrome [RCV003986075] Chr1:42278946..43598390 [GRCh38]
Chr1:1p34.2		 pathogenic
NM_002840.5(PTPRF):c.3974-829C>T single nucleotide variant PTPRF-related condition [RCV003894762] Chr1:43612789 [GRCh38]
Chr1:44078460 [GRCh37]
Chr1:1p34.2		 likely benign
NM_002840.5(PTPRF):c.2565G>A (p.Leu855=) single nucleotide variant PTPRF-related condition [RCV003979343] Chr1:43603717 [GRCh38]
Chr1:44069388 [GRCh37]
Chr1:1p34.2		 benign
NM_002840.5(PTPRF):c.1684G>A (p.Asp562Asn) single nucleotide variant PTPRF-related condition [RCV003909342] Chr1:43592472 [GRCh38]
Chr1:44058143 [GRCh37]
Chr1:1p34.2		 benign
NM_002840.5(PTPRF):c.111A>G (p.Lys37=) single nucleotide variant PTPRF-related condition [RCV003974168] Chr1:43553511 [GRCh38]
Chr1:44019182 [GRCh37]
Chr1:1p34.2		 likely benign
NM_002840.5(PTPRF):c.1196C>T (p.Pro399Leu) single nucleotide variant PTPRF-related condition [RCV003959524] Chr1:43591218 [GRCh38]
Chr1:44056889 [GRCh37]
Chr1:1p34.2		 likely benign
NM_002840.5(PTPRF):c.1821C>T (p.Ser607=) single nucleotide variant PTPRF-related condition [RCV003959790] Chr1:43597755 [GRCh38]
Chr1:44063426 [GRCh37]
Chr1:1p34.2		 likely benign
NM_002840.5(PTPRF):c.5457C>T (p.Ile1819=) single nucleotide variant PTPRF-related condition [RCV003911623] Chr1:43620930 [GRCh38]
Chr1:44086601 [GRCh37]
Chr1:1p34.2		 likely benign
NM_002840.5(PTPRF):c.636G>A (p.Ser212=) single nucleotide variant PTPRF-related condition [RCV003929849] Chr1:43578877 [GRCh38]
Chr1:44044548 [GRCh37]
Chr1:1p34.2		 likely benign
NM_002840.5(PTPRF):c.4372-7C>T single nucleotide variant PTPRF-related condition [RCV003957211] Chr1:43618623 [GRCh38]
Chr1:44084294 [GRCh37]
Chr1:1p34.2		 likely benign
NM_002840.5(PTPRF):c.1349A>G (p.Tyr450Cys) single nucleotide variant PTPRF-related condition [RCV003961716] Chr1:43591371 [GRCh38]
Chr1:44057042 [GRCh37]
Chr1:1p34.2		 benign
NM_002840.5(PTPRF):c.1323C>T (p.Asn441=) single nucleotide variant PTPRF-related condition [RCV003929524] Chr1:43591345 [GRCh38]
Chr1:44057016 [GRCh37]
Chr1:1p34.2		 likely benign
NM_002840.5(PTPRF):c.3858G>A (p.Arg1286=) single nucleotide variant PTPRF-related condition [RCV003937234] Chr1:43609383 [GRCh38]
Chr1:44075054 [GRCh37]
Chr1:1p34.2		 likely benign
NM_002840.5(PTPRF):c.2602A>G (p.Ile868Val) single nucleotide variant PTPRF-related condition [RCV003922323] Chr1:43603754 [GRCh38]
Chr1:44069425 [GRCh37]
Chr1:1p34.2		 likely benign
NM_002840.5(PTPRF):c.1819T>A (p.Ser607Thr) single nucleotide variant PTPRF-related condition [RCV003932014] Chr1:43597753 [GRCh38]
Chr1:44063424 [GRCh37]
Chr1:1p34.2		 likely benign
NM_002840.5(PTPRF):c.2538G>C (p.Leu846=) single nucleotide variant PTPRF-related condition [RCV003922164] Chr1:43603690 [GRCh38]
Chr1:44069361 [GRCh37]
Chr1:1p34.2		 likely benign
NM_002840.5(PTPRF):c.3132T>C (p.Phe1044=) single nucleotide variant PTPRF-related condition [RCV003963952] Chr1:43604997 [GRCh38]
Chr1:44070668 [GRCh37]
Chr1:1p34.2		 likely benign
NM_002840.5(PTPRF):c.2640C>T (p.Thr880=) single nucleotide variant PTPRF-related condition [RCV003927090] Chr1:43603792 [GRCh38]
Chr1:44069463 [GRCh37]
Chr1:1p34.2		 likely benign
NM_002840.5(PTPRF):c.3389+4T>G single nucleotide variant PTPRF-related condition [RCV003966804] Chr1:43605447 [GRCh38]
Chr1:44071118 [GRCh37]
Chr1:1p34.2		 likely benign
NM_002840.5(PTPRF):c.471C>T (p.Ala157=) single nucleotide variant PTPRF-related condition [RCV003974649] Chr1:43569681 [GRCh38]
Chr1:44035352 [GRCh37]
Chr1:1p34.2		 benign
NM_002840.5(PTPRF):c.4962C>G (p.Ser1654=) single nucleotide variant PTPRF-related condition [RCV003934280] Chr1:43619709 [GRCh38]
Chr1:44085380 [GRCh37]
Chr1:1p34.2		 likely benign
NM_002840.5(PTPRF):c.3795G>A (p.Thr1265=) single nucleotide variant PTPRF-related condition [RCV003977006] Chr1:43606906 [GRCh38]
Chr1:44072577 [GRCh37]
Chr1:1p34.2		 likely benign
NM_002840.5(PTPRF):c.4923C>T (p.Leu1641=) single nucleotide variant PTPRF-related condition [RCV003951788] Chr1:43619564 [GRCh38]
Chr1:44085235 [GRCh37]
Chr1:1p34.2		 likely benign
NM_002840.5(PTPRF):c.4878G>A (p.Lys1626=) single nucleotide variant PTPRF-related condition [RCV003954306] Chr1:43619519 [GRCh38]
Chr1:44085190 [GRCh37]
Chr1:1p34.2		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:8122
Count of miRNA genes:1081
Interacting mature miRNAs:1367
Transcripts:ENST00000359947, ENST00000372405, ENST00000372407, ENST00000372413, ENST00000372414, ENST00000412568, ENST00000414879, ENST00000422171, ENST00000429895, ENST00000436724, ENST00000437607, ENST00000438120, ENST00000463041, ENST00000467464, ENST00000477970, ENST00000481019, ENST00000496043, ENST00000496447
Prediction methods:Microtar, 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.

Markers in Region
D1S154  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37144,044,370 - 44,044,856UniSTSGRCh37
Build 36143,816,957 - 43,817,443RGDNCBI36
Celera142,326,249 - 42,326,735RGD
Cytogenetic Map1p34UniSTS
HuRef142,163,437 - 42,163,923UniSTS
RH70959  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37144,088,871 - 44,089,121UniSTSGRCh37
Build 36143,861,458 - 43,861,708RGDNCBI36
Celera142,370,751 - 42,371,001RGD
Cytogenetic Map1p34UniSTS
HuRef142,209,528 - 42,209,778UniSTS
GeneMap99-GB4 RH Map1125.97UniSTS
NCBI RH Map1294.0UniSTS
fj50d02.y1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37144,085,077 - 44,085,420UniSTSGRCh37
Build 36143,857,664 - 43,858,007RGDNCBI36
Celera142,366,957 - 42,367,300RGD
HuRef142,205,734 - 42,206,077UniSTS
PTPRF_1899  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37144,088,705 - 44,089,464UniSTSGRCh37
Build 36143,861,292 - 43,862,051RGDNCBI36
Celera142,370,585 - 42,371,344RGD
HuRef142,209,362 - 42,210,121UniSTS
SHGC-12681  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37144,088,278 - 44,088,607UniSTSGRCh37
Build 36143,860,865 - 43,861,194RGDNCBI36
Celera142,370,158 - 42,370,487RGD
Cytogenetic Map1p34UniSTS
HuRef142,208,935 - 42,209,264UniSTS
TNG Radiation Hybrid Map121409.0UniSTS
GeneMap99-G3 RH Map12362.0UniSTS
SHGC-74668  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37144,017,532 - 44,017,660UniSTSGRCh37
Build 36143,790,119 - 43,790,247RGDNCBI36
Celera142,299,415 - 42,299,543RGD
Cytogenetic Map1p34UniSTS
HuRef142,136,712 - 42,136,840UniSTS
TNG Radiation Hybrid Map121752.0UniSTS
GeneMap99-GB4 RH Map1129.36UniSTS
NCBI RH Map1294.0UniSTS
D1S1361  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map6p21.1-p12.1UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map5q21UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map5q22.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map17q21UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5q14.2UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map5q32-q34UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map8p22-p21UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map1p33UniSTS
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Cytogenetic Map11q13.3UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map11q12.1UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8p21UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q33-q34UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map13q32UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map3p26.3UniSTS
Cytogenetic Map2q11.1UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic MapXp21.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3q24UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map14q11.2-q12UniSTS
Cytogenetic Map3p24UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map4p13-p12UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map9q31-q34UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS
D11S3316  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map6p21UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map7p15-p14UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map4p12UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map2p12-p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map11q12-q13.2UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map4q31.3UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map14q31UniSTS


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 9 1
Medium 2419 1055 1578 620 280 462 3279 951 3250 380 1421 1600 174 1 1168 1739 6 2
Low 20 1199 148 4 910 3 974 997 484 39 30 11 1 36 945
Below cutoff 737 726 104 249 1 104

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_047072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001329137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001329138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001329139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001329140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_130440 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005271079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005271080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005271081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005271082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006710795 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006710796 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006710797 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006710798 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006710799 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006710800 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006710801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011541871 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011541872 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011541873 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017001942 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017001943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017001944 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017001945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017001946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017001949 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047426475 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047426483 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047426486 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047426492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047426493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047426501 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047426504 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047426507 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047426512 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047426514 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047426519 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337954 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337956 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337957 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337958 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337959 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337960 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337961 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337962 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337963 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337964 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337965 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337968 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337969 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337971 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337972 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337973 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337975 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337976 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337981 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB177856 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB177857 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB209478 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB621807 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC092815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125325 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK127007 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK127475 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301551 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL583862 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012102 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC029466 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC048416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC048768 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI711143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU624266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX537361 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA339772 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ234351 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM111191 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y00815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000359947   ⟹   ENSP00000353030
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl143,530,883 - 43,623,666 (+)Ensembl
RefSeq Acc Id: ENST00000372405
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl143,538,198 - 43,580,078 (+)Ensembl
RefSeq Acc Id: ENST00000372407   ⟹   ENSP00000361484
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl143,598,839 - 43,623,663 (+)Ensembl
RefSeq Acc Id: ENST00000412568   ⟹   ENSP00000391764
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl143,591,021 - 43,622,283 (+)Ensembl
RefSeq Acc Id: ENST00000414879   ⟹   ENSP00000416343
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl143,591,450 - 43,622,842 (+)Ensembl
RefSeq Acc Id: ENST00000429895   ⟹   ENSP00000408952
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl143,591,053 - 43,623,654 (+)Ensembl
RefSeq Acc Id: ENST00000436724
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl143,530,903 - 43,580,078 (+)Ensembl
RefSeq Acc Id: ENST00000437607   ⟹   ENSP00000413306
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl143,545,076 - 43,579,284 (+)Ensembl
RefSeq Acc Id: ENST00000438120   ⟹   ENSP00000398822
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl143,530,890 - 43,622,357 (+)Ensembl
RefSeq Acc Id: ENST00000463041
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl143,605,582 - 43,606,868 (+)Ensembl
RefSeq Acc Id: ENST00000467464
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl143,582,480 - 43,591,118 (+)Ensembl
RefSeq Acc Id: ENST00000477970
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl143,613,140 - 43,622,863 (+)Ensembl
RefSeq Acc Id: ENST00000481019
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl143,528,562 - 43,553,539 (+)Ensembl
RefSeq Acc Id: ENST00000496043
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl143,525,187 - 43,553,519 (+)Ensembl
RefSeq Acc Id: ENST00000496447
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl143,598,074 - 43,623,666 (+)Ensembl
RefSeq Acc Id: ENST00000617451   ⟹   ENSP00000483557
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl143,530,876 - 43,579,285 (+)Ensembl
RefSeq Acc Id: NM_001329137   ⟹   NP_001316066
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38143,526,037 - 43,623,666 (+)NCBI
T2T-CHM13v2.0143,396,281 - 43,494,171 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001329138   ⟹   NP_001316067
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38143,526,037 - 43,623,666 (+)NCBI
T2T-CHM13v2.0143,396,281 - 43,494,171 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001329139   ⟹   NP_001316068
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38143,530,883 - 43,623,666 (+)NCBI
T2T-CHM13v2.0143,401,127 - 43,494,171 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001329140   ⟹   NP_001316069
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38143,530,883 - 43,623,666 (+)NCBI
T2T-CHM13v2.0143,401,127 - 43,494,171 (+)NCBI
Sequence:
RefSeq Acc Id: NM_002840   ⟹   NP_002831
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38143,530,883 - 43,623,666 (+)NCBI
GRCh37143,991,708 - 44,089,343 (+)NCBI
Build 36143,769,134 - 43,861,930 (+)NCBI Archive
HuRef142,115,737 - 42,210,000 (+)ENTREZGENE
CHM1_1144,112,964 - 44,205,662 (+)NCBI
T2T-CHM13v2.0143,401,127 - 43,494,171 (+)NCBI
Sequence:
RefSeq Acc Id: NM_130440   ⟹   NP_569707
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38143,530,883 - 43,623,666 (+)NCBI
GRCh37143,991,708 - 44,089,343 (+)NCBI
Build 36143,769,134 - 43,861,930 (+)NCBI Archive
HuRef142,115,737 - 42,210,000 (+)ENTREZGENE
CHM1_1144,112,964 - 44,205,662 (+)NCBI
T2T-CHM13v2.0143,401,127 - 43,494,171 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005271079   ⟹   XP_005271136
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38143,530,883 - 43,623,666 (+)NCBI
GRCh37143,991,708 - 44,089,343 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005271080   ⟹   XP_005271137
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38143,530,883 - 43,623,666 (+)NCBI
GRCh37143,991,708 - 44,089,343 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005271081   ⟹   XP_005271138
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38143,530,883 - 43,623,666 (+)NCBI
GRCh37143,991,708 - 44,089,343 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005271082   ⟹   XP_005271139
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38143,530,883 - 43,623,666 (+)NCBI
GRCh37143,991,708 - 44,089,343 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006710795   ⟹   XP_006710858
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38143,526,037 - 43,623,666 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006710796   ⟹   XP_006710859
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38143,530,883 - 43,623,666 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006710797   ⟹   XP_006710860
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38143,530,883 - 43,623,666 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006710798   ⟹   XP_006710861
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38143,530,883 - 43,623,666 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006710799   ⟹   XP_006710862
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38143,530,883 - 43,623,666 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006710800   ⟹   XP_006710863
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38143,530,883 - 43,623,666 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006710801   ⟹   XP_006710864
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38143,530,883 - 43,623,666 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011541871   ⟹   XP_011540173
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38143,525,092 - 43,623,666 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011541872   ⟹   XP_011540174
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38143,525,092 - 43,623,666 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011541873   ⟹   XP_011540175
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38143,522,051 - 43,623,666 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017001942   ⟹   XP_016857431
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38143,548,018 - 43,623,666 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017001944   ⟹   XP_016857433
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38143,530,883 - 43,623,666 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017001945   ⟹   XP_016857434
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38143,530,883 - 43,623,666 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017001946   ⟹   XP_016857435
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38143,530,883 - 43,623,666 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047426475   ⟹   XP_047282431
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38143,547,768 - 43,623,666 (+)NCBI
RefSeq Acc Id: XM_047426483   ⟹   XP_047282439
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38143,547,768 - 43,623,666 (+)NCBI
RefSeq Acc Id: XM_047426486   ⟹   XP_047282442
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38143,547,758 - 43,623,666 (+)NCBI
RefSeq Acc Id: XM_047426492   ⟹   XP_047282448
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38143,530,883 - 43,623,666 (+)NCBI
RefSeq Acc Id: XM_047426493   ⟹   XP_047282449
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38143,545,037 - 43,623,666 (+)NCBI
RefSeq Acc Id: XM_047426501   ⟹   XP_047282457
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38143,530,883 - 43,623,666 (+)NCBI
RefSeq Acc Id: XM_047426504   ⟹   XP_047282460
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38143,530,883 - 43,623,666 (+)NCBI
RefSeq Acc Id: XM_047426507   ⟹   XP_047282463
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38143,530,883 - 43,623,666 (+)NCBI
RefSeq Acc Id: XM_047426512   ⟹   XP_047282468
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38143,530,883 - 43,623,666 (+)NCBI
RefSeq Acc Id: XM_047426514   ⟹   XP_047282470
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38143,530,883 - 43,623,666 (+)NCBI
RefSeq Acc Id: XM_047426519   ⟹   XP_047282475
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38143,547,768 - 43,623,666 (+)NCBI
RefSeq Acc Id: XM_054337954   ⟹   XP_054193929
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0143,401,127 - 43,494,171 (+)NCBI
RefSeq Acc Id: XM_054337955   ⟹   XP_054193930
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0143,395,356 - 43,494,171 (+)NCBI
RefSeq Acc Id: XM_054337956   ⟹   XP_054193931
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0143,395,356 - 43,494,171 (+)NCBI
RefSeq Acc Id: XM_054337957   ⟹   XP_054193932
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0143,392,482 - 43,494,171 (+)NCBI
RefSeq Acc Id: XM_054337958   ⟹   XP_054193933
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0143,401,127 - 43,494,171 (+)NCBI
RefSeq Acc Id: XM_054337959   ⟹   XP_054193934
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0143,401,127 - 43,494,171 (+)NCBI
RefSeq Acc Id: XM_054337960   ⟹   XP_054193935
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0143,418,262 - 43,494,171 (+)NCBI
RefSeq Acc Id: XM_054337961   ⟹   XP_054193936
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0143,401,127 - 43,494,171 (+)NCBI
RefSeq Acc Id: XM_054337962   ⟹   XP_054193937
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0143,401,127 - 43,494,171 (+)NCBI
RefSeq Acc Id: XM_054337963   ⟹   XP_054193938
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0143,418,011 - 43,494,171 (+)NCBI
RefSeq Acc Id: XM_054337964   ⟹   XP_054193939
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0143,401,127 - 43,494,171 (+)NCBI
RefSeq Acc Id: XM_054337965   ⟹   XP_054193940
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0143,418,011 - 43,494,171 (+)NCBI
RefSeq Acc Id: XM_054337966   ⟹   XP_054193941
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0143,418,001 - 43,494,171 (+)NCBI
RefSeq Acc Id: XM_054337967   ⟹   XP_054193942
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0143,401,127 - 43,494,171 (+)NCBI
RefSeq Acc Id: XM_054337968   ⟹   XP_054193943
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0143,401,127 - 43,494,171 (+)NCBI
RefSeq Acc Id: XM_054337969   ⟹   XP_054193944
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0143,401,127 - 43,494,171 (+)NCBI
RefSeq Acc Id: XM_054337970   ⟹   XP_054193945
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0143,401,127 - 43,494,171 (+)NCBI
RefSeq Acc Id: XM_054337971   ⟹   XP_054193946
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0143,415,280 - 43,494,171 (+)NCBI
RefSeq Acc Id: XM_054337972   ⟹   XP_054193947
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0143,401,127 - 43,494,171 (+)NCBI
RefSeq Acc Id: XM_054337973   ⟹   XP_054193948
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0143,401,127 - 43,494,171 (+)NCBI
RefSeq Acc Id: XM_054337974   ⟹   XP_054193949
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0143,401,127 - 43,494,171 (+)NCBI
RefSeq Acc Id: XM_054337975   ⟹   XP_054193950
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0143,401,127 - 43,494,171 (+)NCBI
RefSeq Acc Id: XM_054337976   ⟹   XP_054193951
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0143,401,127 - 43,494,171 (+)NCBI
RefSeq Acc Id: XM_054337977   ⟹   XP_054193952
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0143,401,127 - 43,494,171 (+)NCBI
RefSeq Acc Id: XM_054337978   ⟹   XP_054193953
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0143,401,127 - 43,494,171 (+)NCBI
RefSeq Acc Id: XM_054337979   ⟹   XP_054193954
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0143,401,127 - 43,494,171 (+)NCBI
RefSeq Acc Id: XM_054337980   ⟹   XP_054193955
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0143,418,011 - 43,494,171 (+)NCBI
RefSeq Acc Id: XM_054337981   ⟹   XP_054193956
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0143,401,127 - 43,494,171 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001316066 (Get FASTA)   NCBI Sequence Viewer  
  NP_001316067 (Get FASTA)   NCBI Sequence Viewer  
  NP_001316068 (Get FASTA)   NCBI Sequence Viewer  
  NP_001316069 (Get FASTA)   NCBI Sequence Viewer  
  NP_002831 (Get FASTA)   NCBI Sequence Viewer  
  NP_569707 (Get FASTA)   NCBI Sequence Viewer  
  XP_005271136 (Get FASTA)   NCBI Sequence Viewer  
  XP_005271137 (Get FASTA)   NCBI Sequence Viewer  
  XP_005271138 (Get FASTA)   NCBI Sequence Viewer  
  XP_005271139 (Get FASTA)   NCBI Sequence Viewer  
  XP_006710858 (Get FASTA)   NCBI Sequence Viewer  
  XP_006710859 (Get FASTA)   NCBI Sequence Viewer  
  XP_006710860 (Get FASTA)   NCBI Sequence Viewer  
  XP_006710861 (Get FASTA)   NCBI Sequence Viewer  
  XP_006710862 (Get FASTA)   NCBI Sequence Viewer  
  XP_006710863 (Get FASTA)   NCBI Sequence Viewer  
  XP_006710864 (Get FASTA)   NCBI Sequence Viewer  
  XP_011540173 (Get FASTA)   NCBI Sequence Viewer  
  XP_011540174 (Get FASTA)   NCBI Sequence Viewer  
  XP_011540175 (Get FASTA)   NCBI Sequence Viewer  
  XP_016857431 (Get FASTA)   NCBI Sequence Viewer  
  XP_016857433 (Get FASTA)   NCBI Sequence Viewer  
  XP_016857434 (Get FASTA)   NCBI Sequence Viewer  
  XP_016857435 (Get FASTA)   NCBI Sequence Viewer  
  XP_047282431 (Get FASTA)   NCBI Sequence Viewer  
  XP_047282439 (Get FASTA)   NCBI Sequence Viewer  
  XP_047282442 (Get FASTA)   NCBI Sequence Viewer  
  XP_047282448 (Get FASTA)   NCBI Sequence Viewer  
  XP_047282449 (Get FASTA)   NCBI Sequence Viewer  
  XP_047282457 (Get FASTA)   NCBI Sequence Viewer  
  XP_047282460 (Get FASTA)   NCBI Sequence Viewer  
  XP_047282463 (Get FASTA)   NCBI Sequence Viewer  
  XP_047282468 (Get FASTA)   NCBI Sequence Viewer  
  XP_047282470 (Get FASTA)   NCBI Sequence Viewer  
  XP_047282475 (Get FASTA)   NCBI Sequence Viewer  
  XP_054193929 (Get FASTA)   NCBI Sequence Viewer  
  XP_054193930 (Get FASTA)   NCBI Sequence Viewer  
  XP_054193931 (Get FASTA)   NCBI Sequence Viewer  
  XP_054193932 (Get FASTA)   NCBI Sequence Viewer  
  XP_054193933 (Get FASTA)   NCBI Sequence Viewer  
  XP_054193934 (Get FASTA)   NCBI Sequence Viewer  
  XP_054193935 (Get FASTA)   NCBI Sequence Viewer  
  XP_054193936 (Get FASTA)   NCBI Sequence Viewer  
  XP_054193937 (Get FASTA)   NCBI Sequence Viewer  
  XP_054193938 (Get FASTA)   NCBI Sequence Viewer  
  XP_054193939 (Get FASTA)   NCBI Sequence Viewer  
  XP_054193940 (Get FASTA)   NCBI Sequence Viewer  
  XP_054193941 (Get FASTA)   NCBI Sequence Viewer  
  XP_054193942 (Get FASTA)   NCBI Sequence Viewer  
  XP_054193943 (Get FASTA)   NCBI Sequence Viewer  
  XP_054193944 (Get FASTA)   NCBI Sequence Viewer  
  XP_054193945 (Get FASTA)   NCBI Sequence Viewer  
  XP_054193946 (Get FASTA)   NCBI Sequence Viewer  
  XP_054193947 (Get FASTA)   NCBI Sequence Viewer  
  XP_054193948 (Get FASTA)   NCBI Sequence Viewer  
  XP_054193949 (Get FASTA)   NCBI Sequence Viewer  
  XP_054193950 (Get FASTA)   NCBI Sequence Viewer  
  XP_054193951 (Get FASTA)   NCBI Sequence Viewer  
  XP_054193952 (Get FASTA)   NCBI Sequence Viewer  
  XP_054193953 (Get FASTA)   NCBI Sequence Viewer  
  XP_054193954 (Get FASTA)   NCBI Sequence Viewer  
  XP_054193955 (Get FASTA)   NCBI Sequence Viewer  
  XP_054193956 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH48768 (Get FASTA)   NCBI Sequence Viewer  
  ABB29980 (Get FASTA)   NCBI Sequence Viewer  
  BAD66834 (Get FASTA)   NCBI Sequence Viewer  
  BAD66835 (Get FASTA)   NCBI Sequence Viewer  
  BAD92715 (Get FASTA)   NCBI Sequence Viewer  
  BAG54183 (Get FASTA)   NCBI Sequence Viewer  
  BAG54420 (Get FASTA)   NCBI Sequence Viewer  
  BAG54509 (Get FASTA)   NCBI Sequence Viewer  
  BAG63047 (Get FASTA)   NCBI Sequence Viewer  
  BAK64143 (Get FASTA)   NCBI Sequence Viewer  
  CAA68754 (Get FASTA)   NCBI Sequence Viewer  
  CAD97607 (Get FASTA)   NCBI Sequence Viewer  
  EAX07086 (Get FASTA)   NCBI Sequence Viewer  
  EAX07087 (Get FASTA)   NCBI Sequence Viewer  
  EAX07088 (Get FASTA)   NCBI Sequence Viewer  
  EAX07089 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000353030
  ENSP00000353030.4
  ENSP00000361484.4
  ENSP00000391764.2
  ENSP00000398822
  ENSP00000398822.1
  ENSP00000408952
  ENSP00000408952.1
  ENSP00000413306.1
  ENSP00000416343.1
  ENSP00000483557.1
GenBank Protein P10586 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_002831   ⟸   NM_002840
- Peptide Label: isoform 1 precursor
- UniProtKB: Q5W9G2 (UniProtKB/Swiss-Prot),   Q5T022 (UniProtKB/Swiss-Prot),   Q5T021 (UniProtKB/Swiss-Prot),   D3DPX7 (UniProtKB/Swiss-Prot),   D3DPX6 (UniProtKB/Swiss-Prot),   Q86WS0 (UniProtKB/Swiss-Prot),   P10586 (UniProtKB/Swiss-Prot),   H0Y6Z7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_569707   ⟸   NM_130440
- Peptide Label: isoform 2 precursor
- UniProtKB: H0Y6Z7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005271136   ⟸   XM_005271079
- Peptide Label: isoform X1
- UniProtKB: H0Y6Z7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005271137   ⟸   XM_005271080
- Peptide Label: isoform X2
- UniProtKB: H0Y6Z7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005271138   ⟸   XM_005271081
- Peptide Label: isoform X6
- UniProtKB: H0Y6Z7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005271139   ⟸   XM_005271082
- Peptide Label: isoform X17
- UniProtKB: H0Y6Z7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006710858   ⟸   XM_006710795
- Peptide Label: isoform X1
- UniProtKB: H0Y6Z7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006710860   ⟸   XM_006710797
- Peptide Label: isoform X5
- UniProtKB: H0Y6Z7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006710864   ⟸   XM_006710801
- Peptide Label: isoform X18
- UniProtKB: Q5W9G3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006710859   ⟸   XM_006710796
- Peptide Label: isoform X3
- UniProtKB: H0Y6Z7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006710861   ⟸   XM_006710798
- Peptide Label: isoform X8
- UniProtKB: H0Y6Z7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006710862   ⟸   XM_006710799
- Peptide Label: isoform X11
- Sequence:
RefSeq Acc Id: XP_006710863   ⟸   XM_006710800
- Peptide Label: isoform X12
- UniProtKB: H0Y6Z7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011540175   ⟸   XM_011541873
- Peptide Label: isoform X1
- UniProtKB: H0Y6Z7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011540173   ⟸   XM_011541871
- Peptide Label: isoform X1
- UniProtKB: H0Y6Z7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011540174   ⟸   XM_011541872
- Peptide Label: isoform X1
- UniProtKB: H0Y6Z7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016857433   ⟸   XM_017001944
- Peptide Label: isoform X16
- UniProtKB: H0Y6Z7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016857435   ⟸   XM_017001946
- Peptide Label: isoform X25
- UniProtKB: Q5W9G3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016857434   ⟸   XM_017001945
- Peptide Label: isoform X14
- UniProtKB: H0Y6Z7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016857431   ⟸   XM_017001942
- Peptide Label: isoform X4
- UniProtKB: H0Y6Z7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001316067   ⟸   NM_001329138
- Peptide Label: isoform 4 precursor
- UniProtKB: Q5W9G3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001316066   ⟸   NM_001329137
- Peptide Label: isoform 3 precursor
- UniProtKB: Q5W9G3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001316068   ⟸   NM_001329139
- Peptide Label: isoform 5 precursor
- UniProtKB: Q5W9G3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001316069   ⟸   NM_001329140
- Peptide Label: isoform 6 precursor
- UniProtKB: Q5W9G3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000413306   ⟸   ENST00000437607
RefSeq Acc Id: ENSP00000398822   ⟸   ENST00000438120
RefSeq Acc Id: ENSP00000353030   ⟸   ENST00000359947
RefSeq Acc Id: ENSP00000361484   ⟸   ENST00000372407
RefSeq Acc Id: ENSP00000391764   ⟸   ENST00000412568
RefSeq Acc Id: ENSP00000416343   ⟸   ENST00000414879
RefSeq Acc Id: ENSP00000408952   ⟸   ENST00000429895
RefSeq Acc Id: ENSP00000483557   ⟸   ENST00000617451
RefSeq Acc Id: XP_047282460   ⟸   XM_047426504
- Peptide Label: isoform X20
RefSeq Acc Id: XP_047282457   ⟸   XM_047426501
- Peptide Label: isoform X19
RefSeq Acc Id: XP_047282468   ⟸   XM_047426512
- Peptide Label: isoform X22
RefSeq Acc Id: XP_047282448   ⟸   XM_047426492
- Peptide Label: isoform X13
RefSeq Acc Id: XP_047282463   ⟸   XM_047426507
- Peptide Label: isoform X21
RefSeq Acc Id: XP_047282470   ⟸   XM_047426514
- Peptide Label: isoform X23
RefSeq Acc Id: XP_047282449   ⟸   XM_047426493
- Peptide Label: isoform X15
RefSeq Acc Id: XP_047282442   ⟸   XM_047426486
- Peptide Label: isoform X10
RefSeq Acc Id: XP_047282431   ⟸   XM_047426475
- Peptide Label: isoform X7
RefSeq Acc Id: XP_047282439   ⟸   XM_047426483
- Peptide Label: isoform X9
RefSeq Acc Id: XP_047282475   ⟸   XM_047426519
- Peptide Label: isoform X24
RefSeq Acc Id: XP_054193932   ⟸   XM_054337957
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054193930   ⟸   XM_054337955
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054193931   ⟸   XM_054337956
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054193929   ⟸   XM_054337954
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054193936   ⟸   XM_054337961
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054193949   ⟸   XM_054337974
- Peptide Label: isoform X18
RefSeq Acc Id: XP_054193951   ⟸   XM_054337976
- Peptide Label: isoform X20
RefSeq Acc Id: XP_054193934   ⟸   XM_054337959
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054193939   ⟸   XM_054337964
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054193950   ⟸   XM_054337975
- Peptide Label: isoform X19
RefSeq Acc Id: XP_054193953   ⟸   XM_054337978
- Peptide Label: isoform X22
RefSeq Acc Id: XP_054193942   ⟸   XM_054337967
- Peptide Label: isoform X11
RefSeq Acc Id: XP_054193944   ⟸   XM_054337969
- Peptide Label: isoform X13
RefSeq Acc Id: XP_054193956   ⟸   XM_054337981
- Peptide Label: isoform X25
RefSeq Acc Id: XP_054193943   ⟸   XM_054337968
- Peptide Label: isoform X12
RefSeq Acc Id: XP_054193947   ⟸   XM_054337972
- Peptide Label: isoform X16
RefSeq Acc Id: XP_054193933   ⟸   XM_054337958
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054193952   ⟸   XM_054337977
- Peptide Label: isoform X21
RefSeq Acc Id: XP_054193937   ⟸   XM_054337962
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054193954   ⟸   XM_054337979
- Peptide Label: isoform X23
RefSeq Acc Id: XP_054193945   ⟸   XM_054337970
- Peptide Label: isoform X14
RefSeq Acc Id: XP_054193948   ⟸   XM_054337973
- Peptide Label: isoform X17
RefSeq Acc Id: XP_054193946   ⟸   XM_054337971
- Peptide Label: isoform X15
RefSeq Acc Id: XP_054193941   ⟸   XM_054337966
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054193938   ⟸   XM_054337963
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054193940   ⟸   XM_054337965
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054193955   ⟸   XM_054337980
- Peptide Label: isoform X24
RefSeq Acc Id: XP_054193935   ⟸   XM_054337960
- Peptide Label: isoform X4
Protein Domains
Fibronectin type-III   Ig-like   Ig-like C2-type   Tyrosine specific protein phosphatases   Tyrosine-protein phosphatase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P10586-F1-model_v2 AlphaFold P10586 1-1907 view protein structure

Promoters
RGD ID:6855238
Promoter ID:EPDNEW_H784
Type:multiple initiation site
Name:PTPRF_2
Description:protein tyrosine phosphatase, receptor type F
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H785  EPDNEW_H786  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38143,525,092 - 43,525,152EPDNEW
RGD ID:6855240
Promoter ID:EPDNEW_H785
Type:initiation region
Name:PTPRF_1
Description:protein tyrosine phosphatase, receptor type F
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H784  EPDNEW_H786  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38143,530,886 - 43,530,946EPDNEW
RGD ID:6855242
Promoter ID:EPDNEW_H786
Type:initiation region
Name:PTPRF_3
Description:protein tyrosine phosphatase, receptor type F
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H784  EPDNEW_H785  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38143,598,152 - 43,598,212EPDNEW
RGD ID:6786357
Promoter ID:HG_KWN:2371
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:ENST00000396839,   NM_002840,   NM_130440,   OTTHUMT00000019712
Position:
Human AssemblyChrPosition (strand)Source
Build 36143,768,881 - 43,769,381 (+)MPROMDB
RGD ID:6785250
Promoter ID:HG_KWN:2372
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:ENST00000372407
Position:
Human AssemblyChrPosition (strand)Source
Build 36143,769,681 - 43,770,181 (+)MPROMDB
RGD ID:6786355
Promoter ID:HG_KWN:2375
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000019931
Position:
Human AssemblyChrPosition (strand)Source
Build 36143,820,286 - 43,820,786 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9670 AgrOrtholog
COSMIC PTPRF COSMIC
Ensembl Genes ENSG00000142949 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000359947 ENTREZGENE
  ENST00000359947.9 UniProtKB/Swiss-Prot
  ENST00000372407.4 UniProtKB/TrEMBL
  ENST00000412568.6 UniProtKB/TrEMBL
  ENST00000414879.5 UniProtKB/TrEMBL
  ENST00000429895 ENTREZGENE
  ENST00000429895.5 UniProtKB/TrEMBL
  ENST00000437607.1 UniProtKB/TrEMBL
  ENST00000438120 ENTREZGENE
  ENST00000438120.5 UniProtKB/Swiss-Prot
  ENST00000617451.4 UniProtKB/TrEMBL
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.90.190.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000142949 GTEx
HGNC ID HGNC:9670 ENTREZGENE
Human Proteome Map PTPRF Human Proteome Map
InterPro FN3_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FN3_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_I-set UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_sub UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_sub2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Prot-tyrosine_phosphatase-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTPase_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tyr_Pase_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tyr_Pase_cat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TYR_PHOSPHATASE_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5792 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 5792 ENTREZGENE
OMIM 179590 OMIM
PANTHER BASIGIN RELATED UniProtKB/TrEMBL
  CONTACTIN 5 UniProtKB/TrEMBL
  CYTOKINE RECEPTOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DOWN SYNDROME CELL ADHESION MOLECULE 3, ISOFORM E-RELATED UniProtKB/TrEMBL
  PROTEIN-TYROSINE-PHOSPHATASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WRAPPER_REGA-1_KLINGON HOMOLOG UniProtKB/TrEMBL
Pfam fn3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  I-set UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Y_phosphatase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA34015 PharmGKB
PRINTS FNTYPEIII UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PRTYPHPHTASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE FN3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IG_LIKE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TYR_PHOSPHATASE_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TYR_PHOSPHATASE_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TYR_PHOSPHATASE_PTP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART FN3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IGc2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTPc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTPc_motif UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00409 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48726 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF49265 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF52799 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A2A437_HUMAN UniProtKB/TrEMBL
  D3DPX6 ENTREZGENE
  D3DPX7 ENTREZGENE
  G1UI20_HUMAN UniProtKB/TrEMBL
  H0Y380_HUMAN UniProtKB/TrEMBL
  H0Y4H1_HUMAN UniProtKB/TrEMBL
  H0Y6Z7 ENTREZGENE, UniProtKB/TrEMBL
  H0Y7Z9_HUMAN UniProtKB/TrEMBL
  P10586 ENTREZGENE, UniProtKB/Swiss-Prot
  Q5T021 ENTREZGENE
  Q5T022 ENTREZGENE
  Q5W9G2 ENTREZGENE
  Q5W9G3 ENTREZGENE, UniProtKB/TrEMBL
  Q86WS0 ENTREZGENE
UniProt Secondary D3DPX6 UniProtKB/Swiss-Prot
  D3DPX7 UniProtKB/Swiss-Prot
  Q5T021 UniProtKB/Swiss-Prot
  Q5T022 UniProtKB/Swiss-Prot
  Q5W9G2 UniProtKB/Swiss-Prot
  Q86WS0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-02-19 PTPRF  protein tyrosine phosphatase receptor type F  PTPRF  protein tyrosine phosphatase, receptor type F  Symbol and/or name change 5135510 APPROVED
2016-01-12 PTPRF  protein tyrosine phosphatase, receptor type F  PTPRF  protein tyrosine phosphatase, receptor type, F  Symbol and/or name change 5135510 APPROVED