PFN1 (profilin 1) - Rat Genome Database

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Gene: PFN1 (profilin 1) Homo sapiens
Analyze
Symbol: PFN1
Name: profilin 1
RGD ID: 733332
HGNC Page HGNC:8881
Description: Enables several functions, including actin monomer binding activity; adenyl-nucleotide exchange factor activity; and phosphatidylinositol-4,5-bisphosphate binding activity. Involved in several processes, including positive regulation of ruffle assembly; protein stabilization; and regulation of actin filament organization. Located in cell cortex and nucleus. Implicated in amyotrophic lateral sclerosis type 18. Biomarker of pancreatic cancer.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ALS18; epididymis tissue protein Li 184a; profilin; profilin I; profilin-1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: LOC102724437   PFN1P1   PFN1P10   PFN1P11   PFN1P12   PFN1P2   PFN1P3   PFN1P4   PFN1P6   PFN1P8   PFN1P9  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38174,945,652 - 4,948,530 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl174,945,652 - 4,949,061 (-)EnsemblGRCh38hg38GRCh38
GRCh37174,848,947 - 4,851,825 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36174,789,692 - 4,792,570 (-)NCBINCBI36Build 36hg18NCBI36
Build 34174,789,693 - 4,792,570NCBI
Celera174,863,758 - 4,866,636 (-)NCBICelera
Cytogenetic Map17p13.2NCBI
HuRef174,736,535 - 4,739,971 (-)NCBIHuRef
CHM1_1174,858,279 - 4,861,714 (-)NCBICHM1_1
T2T-CHM13v2.0174,836,000 - 4,838,878 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (EXP)
(S)-nicotine  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
5-azacytidine  (EXP)
6-propyl-2-thiouracil  (ISO)
acetylsalicylic acid  (EXP)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP)
amitrole  (ISO)
ammonium chloride  (ISO)
ampicillin  (ISO)
aristolochic acid A  (EXP)
Aroclor 1254  (ISO)
arsenite(3-)  (EXP)
atrazine  (EXP)
beauvericin  (EXP)
benzatropine  (EXP)
benzo[a]pyrene  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
caffeine  (EXP)
captan  (ISO)
carbon nanotube  (EXP,ISO)
carmustine  (EXP)
chloropicrin  (EXP)
chlorpyrifos  (ISO)
clobetasol  (ISO)
clofibric acid  (ISO)
cobalt dichloride  (EXP)
cocaine  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
CU-O LINKAGE  (EXP)
dexamethasone  (EXP)
dextran sulfate  (ISO)
dihydroartemisinin  (EXP)
diuron  (EXP)
doxorubicin  (EXP)
elemental selenium  (EXP)
enniatin  (EXP)
enzyme inhibitor  (EXP)
epoxiconazole  (ISO)
flutamide  (ISO)
folic acid  (ISO)
folpet  (ISO)
FR900359  (EXP)
genistein  (ISO)
gentamycin  (ISO)
glafenine  (ISO)
graphite  (EXP)
haloperidol  (EXP)
hydralazine  (EXP)
hydrogen peroxide  (EXP)
indometacin  (EXP)
ivermectin  (EXP)
malathion  (EXP)
methimazole  (ISO)
methyl methanesulfonate  (EXP)
metronidazole  (ISO)
microcystin-LR  (ISO)
N-nitrosodiethylamine  (ISO)
nefazodone  (ISO)
neomycin  (ISO)
nicotine  (ISO)
ouabain  (EXP)
ozone  (ISO)
paracetamol  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phenobarbital  (ISO)
pirinixic acid  (EXP)
propiconazole  (ISO)
quercetin  (EXP,ISO)
rotenone  (EXP)
selenium atom  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (EXP,ISO)
sodium dichromate  (ISO)
sulfadimethoxine  (ISO)
T-2 toxin  (ISO)
tanespimycin  (EXP)
tetrachloromethane  (ISO)
thapsigargin  (ISO)
thimerosal  (EXP)
thioacetamide  (ISO)
titanium dioxide  (EXP)
trichloroethene  (ISO)
triphenyl phosphate  (EXP)
triphenylstannane  (EXP)
valproic acid  (EXP)
vancomycin  (ISO)
vinclozolin  (ISO)
vitamin E  (EXP)

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. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Biomarker discovery from pancreatic cancer secretome using a differential proteomic approach. Gronborg M, etal., Mol Cell Proteomics. 2006 Jan;5(1):157-71. Epub 2005 Oct 8.
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:1968707   PMID:3342873   PMID:3356709   PMID:7566098   PMID:7758455   PMID:7821789   PMID:8268157   PMID:8413665   PMID:9360613   PMID:9473484   PMID:9694849   PMID:9801792  
PMID:9822597   PMID:9843499   PMID:10404225   PMID:10411937   PMID:10445846   PMID:10867004   PMID:10882740   PMID:10922060   PMID:10958683   PMID:11751973   PMID:12052260   PMID:12095630  
PMID:12213210   PMID:12224553   PMID:12419186   PMID:12477932   PMID:12621583   PMID:12729790   PMID:14592989   PMID:14767055   PMID:15161933   PMID:15469846   PMID:15489334   PMID:15556561  
PMID:15592455   PMID:15615774   PMID:15952740   PMID:16009940   PMID:16169070   PMID:16341674   PMID:16531231   PMID:16569658   PMID:16916647   PMID:16968742   PMID:17051635   PMID:17470807  
PMID:17914456   PMID:17940506   PMID:18223293   PMID:18384219   PMID:18417352   PMID:18573880   PMID:18689676   PMID:19000816   PMID:19028693   PMID:19035654   PMID:19056867   PMID:19115233  
PMID:19135240   PMID:19299420   PMID:19322201   PMID:19338310   PMID:19593789   PMID:19607826   PMID:19710142   PMID:19738201   PMID:19946888   PMID:20143334   PMID:20301623   PMID:20360068  
PMID:20400688   PMID:20458337   PMID:20717968   PMID:20736409   PMID:21049052   PMID:21091798   PMID:21115820   PMID:21145461   PMID:21319273   PMID:21423176   PMID:21800051   PMID:21873635  
PMID:21949785   PMID:22159600   PMID:22304920   PMID:22415225   PMID:22479341   PMID:22516433   PMID:22623428   PMID:22681889   PMID:22801503   PMID:22939629   PMID:22990118   PMID:23062600  
PMID:23063648   PMID:23141414   PMID:23153535   PMID:23182804   PMID:23312802   PMID:23326535   PMID:23331014   PMID:23357624   PMID:23376485   PMID:23428184   PMID:23430586   PMID:23533145  
PMID:23576398   PMID:23602568   PMID:23634771   PMID:23635659   PMID:23686314   PMID:23826918   PMID:23827010   PMID:23874603   PMID:24085347   PMID:24090212   PMID:24337577   PMID:24465723  
PMID:24661873   PMID:24700464   PMID:24711643   PMID:24747440   PMID:24780888   PMID:24920614   PMID:24981860   PMID:25103363   PMID:25192599   PMID:25249294   PMID:25255767   PMID:25313062  
PMID:25324306   PMID:25337239   PMID:25450970   PMID:25454514   PMID:25468996   PMID:25499087   PMID:25613364   PMID:25704627   PMID:25741138   PMID:25921289   PMID:25959826   PMID:25963833  
PMID:26056300   PMID:26209609   PMID:26226631   PMID:26227615   PMID:26344197   PMID:26496610   PMID:26499959   PMID:26572741   PMID:26618866   PMID:26725010   PMID:26787927   PMID:26831064  
PMID:26842845   PMID:26908597   PMID:27101547   PMID:27432186   PMID:27462432   PMID:27494863   PMID:27609421   PMID:27634045   PMID:27669692   PMID:27681617   PMID:27683119   PMID:27751915  
PMID:27862305   PMID:28024152   PMID:28031328   PMID:28040732   PMID:28052669   PMID:28102851   PMID:28170369   PMID:28302793   PMID:28330616   PMID:28515276   PMID:28541412   PMID:28546428  
PMID:28581483   PMID:28675297   PMID:28688208   PMID:28699810   PMID:28821715   PMID:28847504   PMID:29117863   PMID:29128334   PMID:29229926   PMID:29298432   PMID:29358329   PMID:29449217  
PMID:29467282   PMID:29478914   PMID:29507755   PMID:29509190   PMID:29676528   PMID:29760185   PMID:29799413   PMID:29845934   PMID:29849894   PMID:29859926   PMID:29945297   PMID:29991678  
PMID:30166578   PMID:30196744   PMID:30203378   PMID:30213953   PMID:30232004   PMID:30318519   PMID:30381396   PMID:30455355   PMID:30463566   PMID:30463901   PMID:30575818   PMID:30638858  
PMID:30814249   PMID:30824926   PMID:30829395   PMID:30833792   PMID:30890647   PMID:30948266   PMID:31067453   PMID:31091453   PMID:31180492   PMID:31216283   PMID:31300519   PMID:31324722  
PMID:31409639   PMID:31444357   PMID:31586073   PMID:31594818   PMID:31607529   PMID:31732153   PMID:31802421   PMID:31863778   PMID:31871319   PMID:31991009   PMID:31995728   PMID:32203420  
PMID:32392198   PMID:32392277   PMID:32529326   PMID:32687490   PMID:32694731   PMID:32707033   PMID:32800551   PMID:32807901   PMID:32883810   PMID:32905556   PMID:32915364   PMID:32929329  
PMID:33024031   PMID:33162813   PMID:33184056   PMID:33194618   PMID:33226137   PMID:33306668   PMID:33397691   PMID:33499277   PMID:33545068   PMID:33590416   PMID:33596420   PMID:33599011  
PMID:33644029   PMID:33729478   PMID:33916271   PMID:33961781   PMID:34074767   PMID:34079125   PMID:34121689   PMID:34185411   PMID:34220798   PMID:34231097   PMID:34302583   PMID:34331014  
PMID:34349018   PMID:34373451   PMID:34599178   PMID:34709727   PMID:34901782   PMID:35013218   PMID:35013556   PMID:35148999   PMID:35198878   PMID:35256949   PMID:35271311   PMID:35349725  
PMID:35446349   PMID:35532157   PMID:35562734   PMID:35563538   PMID:35628504   PMID:35666129   PMID:35676659   PMID:35688275   PMID:35785414   PMID:35831314   PMID:35833506   PMID:35844135  
PMID:35944360   PMID:35987950   PMID:36057605   PMID:36114006   PMID:36160709   PMID:36215168   PMID:36244648   PMID:36380368   PMID:36424410   PMID:36517590   PMID:36526897   PMID:36574265  
PMID:36599901   PMID:36610398   PMID:36912080   PMID:37130459   PMID:37164274   PMID:37401976   PMID:37827155   PMID:37847555   PMID:38113892   PMID:38141770   PMID:38172120   PMID:38509062  


Genomics

Comparative Map Data
PFN1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38174,945,652 - 4,948,530 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl174,945,652 - 4,949,061 (-)EnsemblGRCh38hg38GRCh38
GRCh37174,848,947 - 4,851,825 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36174,789,692 - 4,792,570 (-)NCBINCBI36Build 36hg18NCBI36
Build 34174,789,693 - 4,792,570NCBI
Celera174,863,758 - 4,866,636 (-)NCBICelera
Cytogenetic Map17p13.2NCBI
HuRef174,736,535 - 4,739,971 (-)NCBIHuRef
CHM1_1174,858,279 - 4,861,714 (-)NCBICHM1_1
T2T-CHM13v2.0174,836,000 - 4,838,878 (-)NCBIT2T-CHM13v2.0
Pfn1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391170,542,670 - 70,547,625 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1170,542,676 - 70,545,470 (-)EnsemblGRCm39 Ensembl
GRCm381170,651,844 - 70,656,799 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1170,651,850 - 70,654,644 (-)EnsemblGRCm38mm10GRCm38
MGSCv371170,465,349 - 70,468,152 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361170,468,044 - 70,470,830 (-)NCBIMGSCv36mm8
Celera1178,202,791 - 78,205,594 (-)NCBICelera
Cytogenetic Map11B3NCBI
cM Map1143.21NCBI
Pfn1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81055,863,882 - 55,866,587 (-)NCBIGRCr8
mRatBN7.21055,365,263 - 55,367,968 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1055,365,262 - 55,527,631 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1060,045,873 - 60,048,577 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01059,534,379 - 59,537,083 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01055,033,485 - 55,036,189 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01057,273,003 - 57,275,708 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1057,273,005 - 57,275,708 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01057,018,597 - 57,021,302 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41057,531,661 - 57,534,366 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11057,545,285 - 57,547,989 (-)NCBI
Celera1054,510,819 - 54,513,524 (-)NCBICelera
RH 3.4 Map9783.99RGD
Cytogenetic Map10q24NCBI
Pfn1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495546710,357,838 - 10,360,651 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495546710,357,838 - 10,360,651 (-)NCBIChiLan1.0ChiLan1.0
PFN1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21912,555,720 - 12,559,224 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11714,524,079 - 14,526,976 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0174,993,853 - 4,996,811 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1174,981,765 - 4,984,676 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl174,981,765 - 4,985,022 (-)Ensemblpanpan1.1panPan2
PFN1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1531,670,483 - 31,671,891 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl531,670,194 - 31,671,895 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha531,807,352 - 31,810,011 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0531,772,763 - 31,775,424 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl531,772,755 - 31,775,415 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1531,739,303 - 31,741,962 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0531,699,008 - 31,701,668 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0531,875,384 - 31,878,044 (+)NCBIUU_Cfam_GSD_1.0
Pfn1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560253,134,909 - 53,137,871 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366772,762,971 - 2,766,149 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366772,762,971 - 2,766,038 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PFN1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1251,961,952 - 51,965,464 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11251,962,642 - 51,965,570 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21254,031,353 - 54,034,283 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PFN1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1164,426,853 - 4,430,259 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl164,426,962 - 4,429,713 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605917,203,582 - 17,206,997 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Pfn1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247868,803,118 - 8,805,960 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247868,803,247 - 8,805,958 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PFN1
67 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_005022.4(PFN1):c.211T>G (p.Cys71Gly) single nucleotide variant Amyotrophic lateral sclerosis type 18 [RCV000030694] Chr17:4946742 [GRCh38]
Chr17:4850037 [GRCh37]
Chr17:17p13.2		 pathogenic
NM_005022.4(PFN1):c.341T>C (p.Met114Thr) single nucleotide variant Amyotrophic lateral sclerosis type 18 [RCV000030695]|not provided [RCV001852610] Chr17:4945982 [GRCh38]
Chr17:4849277 [GRCh37]
Chr17:17p13.2		 pathogenic
NM_005022.4(PFN1):c.353G>T (p.Gly118Val) single nucleotide variant Amyotrophic lateral sclerosis type 18 [RCV000030696] Chr17:4945970 [GRCh38]
Chr17:4849265 [GRCh37]
Chr17:17p13.2		 pathogenic
NM_005022.4(PFN1):c.350A>G (p.Glu117Gly) single nucleotide variant Amyotrophic lateral sclerosis type 18 [RCV000030697]|not specified [RCV002247400] Chr17:4945973 [GRCh38]
Chr17:4849268 [GRCh37]
Chr17:17p13.2		 pathogenic|uncertain significance
GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1 copy number loss See cases [RCV000053384] Chr17:193307..5652222 [GRCh38]
Chr17:45835..5555542 [GRCh37]
Chr17:43098..5496266 [NCBI36]
Chr17:17p13.3-13.2		 pathogenic
GRCh38/hg38 17p13.2-13.1(chr17:3601515-7178024)x1 copy number loss See cases [RCV000053406] Chr17:3601515..7178024 [GRCh38]
Chr17:3504809..7081343 [GRCh37]
Chr17:3451558..7022067 [NCBI36]
Chr17:17p13.2-13.1		 pathogenic
NM_001976.4(ENO3):c.89G>A (p.Arg30Gln) single nucleotide variant Malignant melanoma [RCV000071572] Chr17:4952798 [GRCh38]
Chr17:4856093 [GRCh37]
Chr17:4796839 [NCBI36]
Chr17:17p13.2		 not provided
GRCh38/hg38 17p13.3-13.2(chr17:2062380-5258340)x1 copy number loss See cases [RCV000133721] Chr17:2062380..5258340 [GRCh38]
Chr17:1965674..5161635 [GRCh37]
Chr17:1912424..5102359 [NCBI36]
Chr17:17p13.3-13.2		 pathogenic
GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1 copy number loss See cases [RCV000134135] Chr17:162088..6959050 [GRCh38]
Chr17:45835..6862369 [GRCh37]
Chr17:11879..6803093 [NCBI36]
Chr17:17p13.3-13.1		 pathogenic
GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3 copy number gain See cases [RCV000134970] Chr17:198748..7491129 [GRCh38]
Chr17:50690..7394448 [GRCh37]
Chr17:48539..7335172 [NCBI36]
Chr17:17p13.3-13.1		 pathogenic
GRCh38/hg38 17p13.2(chr17:4044302-5943772)x1 copy number loss See cases [RCV000135548] Chr17:4044302..5943772 [GRCh38]
Chr17:3947596..5847092 [GRCh37]
Chr17:3894345..5787816 [NCBI36]
Chr17:17p13.2		 likely pathogenic
GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1 copy number loss See cases [RCV000138214] Chr17:162016..7697012 [GRCh38]
Chr17:45835..7600330 [GRCh37]
Chr17:11807..7541055 [NCBI36]
Chr17:17p13.3-13.1		 pathogenic
GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3 copy number gain See cases [RCV000138531] Chr17:162016..12343901 [GRCh38]
Chr17:45835..12247218 [GRCh37]
Chr17:11807..12187943 [NCBI36]
Chr17:17p13.3-12		 pathogenic
GRCh38/hg38 17p13.2(chr17:4092608-5354473)x3 copy number gain See cases [RCV000139650] Chr17:4092608..5354473 [GRCh38]
Chr17:3995902..5257768 [GRCh37]
Chr17:3942651..5198492 [NCBI36]
Chr17:17p13.2		 likely benign
GRCh38/hg38 17p13.2(chr17:4915519-5197126)x1 copy number loss See cases [RCV000141706] Chr17:4915519..5197126 [GRCh38]
Chr17:4818814..5100421 [GRCh37]
Chr17:4759591..5041145 [NCBI36]
Chr17:17p13.2		 likely pathogenic|uncertain significance
GRCh38/hg38 17p13.3-13.2(chr17:150732-5935377)x1 copy number loss See cases [RCV000141658] Chr17:150732..5935377 [GRCh38]
Chr17:525..5838697 [GRCh37]
Chr17:525..5779421 [NCBI36]
Chr17:17p13.3-13.2		 pathogenic
GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3 copy number gain See cases [RCV000142236] Chr17:150732..14764202 [GRCh38]
Chr17:525..14667519 [GRCh37]
Chr17:525..14608244 [NCBI36]
Chr17:17p13.3-12		 pathogenic
NM_005022.4(PFN1):c.334C>T (p.Leu112=) single nucleotide variant Amyotrophic lateral sclerosis type 18 [RCV001788126]|not provided [RCV001515941]|not specified [RCV000250149] Chr17:4945989 [GRCh38]
Chr17:4849284 [GRCh37]
Chr17:17p13.2		 benign
NC_000017.11:g.4949328G>T single nucleotide variant not provided [RCV001565938] Chr17:4949328 [GRCh38]
Chr17:4852623 [GRCh37]
Chr17:17p13.2		 likely benign
NM_005022.4(PFN1):c.341T>G (p.Met114Arg) single nucleotide variant Lower limb muscle weakness [RCV000415115] Chr17:4945982 [GRCh38]
Chr17:4849277 [GRCh37]
Chr17:17p13.2		 likely pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:1751557-5378509)x1 copy number loss See cases [RCV000445994] Chr17:1751557..5378509 [GRCh37]
Chr17:17p13.3-13.2		 pathogenic
GRCh37/hg19 17p13.3-13.1(chr17:1113102-6742486) copy number gain See cases [RCV000445679] Chr17:1113102..6742486 [GRCh37]
Chr17:17p13.3-13.1		 pathogenic
GRCh37/hg19 17p13.2(chr17:4633847-4856516)x1 copy number loss See cases [RCV000510443] Chr17:4633847..4856516 [GRCh37]
Chr17:17p13.2		 uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3 copy number gain See cases [RCV000511786] Chr17:525..15027737 [GRCh37]
Chr17:17p13.3-12		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3 copy number gain not provided [RCV000683866] Chr17:525..11186432 [GRCh37]
Chr17:17p13.3-12		 pathogenic
GRCh37/hg19 17p13.2(chr17:4475016-4884701)x3 copy number gain not provided [RCV000683882] Chr17:4475016..4884701 [GRCh37]
Chr17:17p13.2		 uncertain significance
GRCh37/hg19 17p13.2(chr17:4633847-4926646)x3 copy number gain not provided [RCV000683883] Chr17:4633847..4926646 [GRCh37]
Chr17:17p13.2		 uncertain significance
GRCh37/hg19 17p13.2(chr17:4036861-5174346)x3 copy number gain not provided [RCV000683881] Chr17:4036861..5174346 [GRCh37]
Chr17:17p13.2		 uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.2(chr17:3336162-4918458)x1 copy number loss not provided [RCV000739374] Chr17:3336162..4918458 [GRCh37]
Chr17:17p13.2		 likely pathogenic
NM_005022.4(PFN1):c.37G>A (p.Ala13Thr) single nucleotide variant Amyotrophic lateral sclerosis [RCV001095491] Chr17:4948358 [GRCh38]
Chr17:4851653 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_005022.4(PFN1):c.326-7C>T single nucleotide variant not provided [RCV000950511] Chr17:4946004 [GRCh38]
Chr17:4849299 [GRCh37]
Chr17:17p13.2		 likely benign
GRCh37/hg19 17p13.3-13.2(chr17:47546-6287620) copy number gain Chromosome 17P13.3, telomeric, duplication syndrome [RCV000767586] Chr17:47546..6287620 [GRCh37]
Chr17:17p13.3-13.2		 pathogenic
NM_005022.4(PFN1):c.273G>A (p.Lys91=) single nucleotide variant not provided [RCV000921766] Chr17:4946680 [GRCh38]
Chr17:4849975 [GRCh37]
Chr17:17p13.2		 likely benign
NC_000017.10:g.(?_4802011)_(4850135_?)dup duplication Congenital myasthenic syndrome 4A [RCV000795439] Chr17:4898716..4946840 [GRCh38]
Chr17:4802011..4850135 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_005022.4(PFN1):c.347AAG[1] (p.Glu117del) microsatellite not provided [RCV000807033] Chr17:4945971..4945973 [GRCh38]
Chr17:4849266..4849268 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_005022.4(PFN1):c.350_351delinsGT (p.Glu117Gly) indel not provided [RCV000800637]|not specified [RCV001815012] Chr17:4945972..4945973 [GRCh38]
Chr17:4849267..4849268 [GRCh37]
Chr17:17p13.2		 conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 17p13.2(chr17:4845435-5097302)x3 copy number gain not provided [RCV000847650] Chr17:4845435..5097302 [GRCh37]
Chr17:17p13.2		 uncertain significance
GRCh37/hg19 17p13.2(chr17:3759126-6128911)x1 copy number loss not provided [RCV000849625] Chr17:3759126..6128911 [GRCh37]
Chr17:17p13.2		 uncertain significance
GRCh37/hg19 17p13.3-13.2(chr17:8547-5627408)x1 copy number loss See cases [RCV001007429] Chr17:8547..5627408 [GRCh37]
Chr17:17p13.3-13.2		 pathogenic
NC_000017.11:g.(?_4898726)_(5024161_?)dup duplication Congenital myasthenic syndrome 4A [RCV003117706]|Spastic ataxia 2 [RCV001032478] Chr17:4802021..4927456 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_005022.4(PFN1):c.326-254A>G single nucleotide variant not provided [RCV001571402] Chr17:4946251 [GRCh38]
Chr17:4849546 [GRCh37]
Chr17:17p13.2		 likely benign
NC_000017.11:g.4948573dup duplication not provided [RCV001722072] Chr17:4948563..4948564 [GRCh38]
Chr17:4851858..4851859 [GRCh37]
Chr17:17p13.2		 benign
NM_005022.4(PFN1):c.326-229C>T single nucleotide variant not provided [RCV001561754] Chr17:4946226 [GRCh38]
Chr17:4849521 [GRCh37]
Chr17:17p13.2		 likely benign
NM_005022.4(PFN1):c.132+133G>C single nucleotide variant not provided [RCV001674507] Chr17:4948130 [GRCh38]
Chr17:4851425 [GRCh37]
Chr17:17p13.2		 benign
NC_000017.11:g.4948573del deletion not provided [RCV001614398] Chr17:4948564 [GRCh38]
Chr17:4851859 [GRCh37]
Chr17:17p13.2		 benign
NM_005022.4(PFN1):c.326-92G>A single nucleotide variant not provided [RCV001594682] Chr17:4946089 [GRCh38]
Chr17:4849384 [GRCh37]
Chr17:17p13.2		 benign
NM_005022.4(PFN1):c.327G>A (p.Thr109=) single nucleotide variant not provided [RCV000952370] Chr17:4945996 [GRCh38]
Chr17:4849291 [GRCh37]
Chr17:17p13.2		 likely benign
NM_005022.4(PFN1):c.114A>G (p.Lys38=) single nucleotide variant not provided [RCV000953813] Chr17:4948281 [GRCh38]
Chr17:4851576 [GRCh37]
Chr17:17p13.2		 likely benign
NC_000017.11:g.(?_4898726)_(4948404_?)del deletion Congenital myasthenic syndrome 4A [RCV001033817] Chr17:4802021..4851699 [GRCh37]
Chr17:17p13.2		 pathogenic
NM_005022.4(PFN1):c.325+296T>A single nucleotide variant not provided [RCV001678053] Chr17:4946332 [GRCh38]
Chr17:4849627 [GRCh37]
Chr17:17p13.2		 benign
NM_005022.4(PFN1):c.-86G>A single nucleotide variant not provided [RCV001586723] Chr17:4948480 [GRCh38]
Chr17:4851775 [GRCh37]
Chr17:17p13.2		 likely benign
NM_005022.4(PFN1):c.-78C>T single nucleotide variant not provided [RCV001620596] Chr17:4948472 [GRCh38]
Chr17:4851767 [GRCh37]
Chr17:17p13.2		 benign
NM_005022.4(PFN1):c.-132C>T single nucleotide variant not provided [RCV001537000] Chr17:4948526 [GRCh38]
Chr17:4851821 [GRCh37]
Chr17:17p13.2		 likely benign
NM_005022.4(PFN1):c.-58C>G single nucleotide variant not provided [RCV001564513] Chr17:4948452 [GRCh38]
Chr17:4851747 [GRCh37]
Chr17:17p13.2		 likely benign
NM_005022.4(PFN1):c.325+149C>T single nucleotide variant not provided [RCV001722078] Chr17:4946479 [GRCh38]
Chr17:4849774 [GRCh37]
Chr17:17p13.2		 benign
NM_005022.4(PFN1):c.133-197C>G single nucleotide variant not provided [RCV001722079] Chr17:4947017 [GRCh38]
Chr17:4850312 [GRCh37]
Chr17:17p13.2		 benign
NC_000017.11:g.4949010G>A single nucleotide variant not provided [RCV001691410] Chr17:4949010 [GRCh38]
Chr17:4852305 [GRCh37]
Chr17:17p13.2		 benign
NC_000017.11:g.4949168C>T single nucleotide variant not provided [RCV001670235] Chr17:4949168 [GRCh38]
Chr17:4852463 [GRCh37]
Chr17:17p13.2		 benign
NM_005022.4(PFN1):c.133-125A>G single nucleotide variant not provided [RCV001583483] Chr17:4946945 [GRCh38]
Chr17:4850240 [GRCh37]
Chr17:17p13.2		 likely benign
NM_005022.4(PFN1):c.325+288T>C single nucleotide variant not provided [RCV001536416] Chr17:4946340 [GRCh38]
Chr17:4849635 [GRCh37]
Chr17:17p13.2		 benign
NM_005022.4(PFN1):c.369G>C (p.Leu123Phe) single nucleotide variant Inborn genetic diseases [RCV004035136]|not provided [RCV001324574] Chr17:4945954 [GRCh38]
Chr17:4849249 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_005022.4(PFN1):c.216G>A (p.Ser72=) single nucleotide variant not provided [RCV001392273] Chr17:4946737 [GRCh38]
Chr17:4850032 [GRCh37]
Chr17:17p13.2		 likely benign
NM_005022.4(PFN1):c.133-3C>T single nucleotide variant not provided [RCV001350713] Chr17:4946823 [GRCh38]
Chr17:4850118 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_005022.4(PFN1):c.123C>T (p.Val41=) single nucleotide variant not provided [RCV001456799] Chr17:4948272 [GRCh38]
Chr17:4851567 [GRCh37]
Chr17:17p13.2		 likely benign
NM_005022.4(PFN1):c.399C>T (p.Ser133=) single nucleotide variant PFN1-related condition [RCV003948534]|not provided [RCV001517400] Chr17:4945924 [GRCh38]
Chr17:4849219 [GRCh37]
Chr17:17p13.2		 benign|likely benign
NM_005022.4(PFN1):c.401A>C (p.His134Pro) single nucleotide variant not provided [RCV001760860] Chr17:4945922 [GRCh38]
Chr17:4849217 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_005022.4(PFN1):c.318dup (p.Asp107Ter) duplication not provided [RCV002005966] Chr17:4946634..4946635 [GRCh38]
Chr17:4849929..4849930 [GRCh37]
Chr17:17p13.2		 uncertain significance
GRCh37/hg19 17p13.2(chr17:4113551-5023913) copy number loss not specified [RCV002052580] Chr17:4113551..5023913 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_005022.4(PFN1):c.73_74delinsCT (p.Tyr25Leu) indel not provided [RCV001926547] Chr17:4948321..4948322 [GRCh38]
Chr17:4851616..4851617 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_005022.4(PFN1):c.86C>T (p.Pro29Leu) single nucleotide variant Amyotrophic lateral sclerosis [RCV001843925]|not provided [RCV002545234] Chr17:4948309 [GRCh38]
Chr17:4851604 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_005022.4(PFN1):c.220A>G (p.Ile74Val) single nucleotide variant not provided [RCV001886710] Chr17:4946733 [GRCh38]
Chr17:4850028 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_005022.4(PFN1):c.406C>T (p.Arg136Trp) single nucleotide variant not provided [RCV001999014] Chr17:4945917 [GRCh38]
Chr17:4849212 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_005022.4(PFN1):c.68T>G (p.Val23Gly) single nucleotide variant not provided [RCV002049498] Chr17:4948327 [GRCh38]
Chr17:4851622 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_005022.4(PFN1):c.417G>A (p.Gln139=) single nucleotide variant not provided [RCV002125012] Chr17:4945906 [GRCh38]
Chr17:4849201 [GRCh37]
Chr17:17p13.2		 benign
NM_005022.4(PFN1):c.326-15_326-14del deletion not provided [RCV002155075] Chr17:4946011..4946012 [GRCh38]
Chr17:4849306..4849307 [GRCh37]
Chr17:17p13.2		 likely benign
NM_005022.4(PFN1):c.326-17C>T single nucleotide variant not provided [RCV002083693] Chr17:4946014 [GRCh38]
Chr17:4849309 [GRCh37]
Chr17:17p13.2		 likely benign
NM_005022.4(PFN1):c.222C>T (p.Ile74=) single nucleotide variant not provided [RCV002219283] Chr17:4946731 [GRCh38]
Chr17:4850026 [GRCh37]
Chr17:17p13.2		 likely benign
NM_005022.4(PFN1):c.318_319dup (p.Asp107fs) duplication Amyotrophic lateral sclerosis type 18 [RCV002471256]|Neurodegeneration [RCV002221386] Chr17:4946633..4946634 [GRCh38]
Chr17:4849928..4849929 [GRCh37]
Chr17:17p13.2		 likely pathogenic
NM_005022.4(PFN1):c.326-14TCC[3] microsatellite not provided [RCV002123945] Chr17:4946000..4946002 [GRCh38]
Chr17:4849295..4849297 [GRCh37]
Chr17:17p13.2		 likely benign
NM_005022.4(PFN1):c.281G>A (p.Gly94Asp) single nucleotide variant not provided [RCV003120089] Chr17:4946672 [GRCh38]
Chr17:4849967 [GRCh37]
Chr17:17p13.2		 uncertain significance
Single allele duplication 7p22.1 microduplication syndrome [RCV002227783] Chr17:4772213..5119909 [GRCh38]
Chr17:17p13.2		 uncertain significance
NM_005022.4(PFN1):c.185A>G (p.Asn62Ser) single nucleotide variant not provided [RCV003156689] Chr17:4946768 [GRCh38]
Chr17:4850063 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_005022.4(PFN1):c.280G>T (p.Gly94Cys) single nucleotide variant Amyotrophic lateral sclerosis type 18 [RCV002467428]|PFN1-related condition [RCV003403843]|not provided [RCV002571422] Chr17:4946673 [GRCh38]
Chr17:4849968 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_005022.4(PFN1):c.351A>T (p.Glu117Asp) single nucleotide variant Amyotrophic lateral sclerosis type 18 [RCV002470331] Chr17:4945972 [GRCh38]
Chr17:4849267 [GRCh37]
Chr17:17p13.2		 likely benign
NM_005022.4(PFN1):c.404T>G (p.Leu135Arg) single nucleotide variant not provided [RCV002295461] Chr17:4945919 [GRCh38]
Chr17:4849214 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_005022.4(PFN1):c.132+20G>T single nucleotide variant not provided [RCV002730094] Chr17:4948243 [GRCh38]
Chr17:4851538 [GRCh37]
Chr17:17p13.2		 likely benign
NM_005022.4(PFN1):c.133-8T>G single nucleotide variant not provided [RCV003076993] Chr17:4946828 [GRCh38]
Chr17:4850123 [GRCh37]
Chr17:17p13.2		 likely benign
GRCh37/hg19 17p13.2(chr17:4658216-5266343)x3 copy number gain not provided [RCV002475693] Chr17:4658216..5266343 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_005022.4(PFN1):c.278C>T (p.Thr93Ile) single nucleotide variant not provided [RCV002815345] Chr17:4946675 [GRCh38]
Chr17:4849970 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_005022.4(PFN1):c.90C>T (p.Ser30=) single nucleotide variant not provided [RCV002995422] Chr17:4948305 [GRCh38]
Chr17:4851600 [GRCh37]
Chr17:17p13.2		 likely benign
NM_005022.4(PFN1):c.345C>T (p.Gly115=) single nucleotide variant not provided [RCV002741741] Chr17:4945978 [GRCh38]
Chr17:4849273 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_005022.4(PFN1):c.132+12C>A single nucleotide variant not provided [RCV002574617] Chr17:4948251 [GRCh38]
Chr17:4851546 [GRCh37]
Chr17:17p13.2		 likely benign
NM_005022.4(PFN1):c.360C>T (p.His120=) single nucleotide variant PFN1-related condition [RCV003916496]|not provided [RCV002625540] Chr17:4945963 [GRCh38]
Chr17:4849258 [GRCh37]
Chr17:17p13.2		 likely benign
NM_005022.4(PFN1):c.181G>A (p.Val61Met) single nucleotide variant not provided [RCV002765734] Chr17:4946772 [GRCh38]
Chr17:4850067 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_005022.4(PFN1):c.45G>C (p.Gly15=) single nucleotide variant not provided [RCV002716892] Chr17:4948350 [GRCh38]
Chr17:4851645 [GRCh37]
Chr17:17p13.2		 likely benign
NM_005022.4(PFN1):c.196C>T (p.Leu66Phe) single nucleotide variant not provided [RCV002658149] Chr17:4946757 [GRCh38]
Chr17:4850052 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_005022.4(PFN1):c.35T>C (p.Met12Thr) single nucleotide variant Inborn genetic diseases [RCV003204513] Chr17:4948360 [GRCh38]
Chr17:4851655 [GRCh37]
Chr17:17p13.2		 uncertain significance
GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3 copy number gain Chromosome 17p13.3 duplication syndrome [RCV003327726] Chr17:165730..11404096 [GRCh38]
Chr17:17p13.3-12		 pathogenic
NM_005022.4(PFN1):c.301G>A (p.Val101Ile) single nucleotide variant not provided [RCV003571343] Chr17:4946652 [GRCh38]
Chr17:4849947 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_005022.4(PFN1):c.105C>T (p.Val35=) single nucleotide variant not provided [RCV003829168] Chr17:4948290 [GRCh38]
Chr17:4851585 [GRCh37]
Chr17:17p13.2		 likely benign
NM_005022.4(PFN1):c.326-17_326-16del microsatellite not provided [RCV003696561] Chr17:4946013..4946014 [GRCh38]
Chr17:4849308..4849309 [GRCh37]
Chr17:17p13.2		 likely benign
NM_005022.4(PFN1):c.326-21_326-18del deletion not provided [RCV003691211] Chr17:4946015..4946018 [GRCh38]
Chr17:4849310..4849313 [GRCh37]
Chr17:17p13.2		 likely benign
NM_005022.4(PFN1):c.31C>T (p.Leu11Phe) single nucleotide variant not provided [RCV003574388] Chr17:4948364 [GRCh38]
Chr17:4851659 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_005022.4(PFN1):c.43G>A (p.Gly15Arg) single nucleotide variant not provided [RCV003827208] Chr17:4948352 [GRCh38]
Chr17:4851647 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_005022.4(PFN1):c.326-16T>C single nucleotide variant not provided [RCV003816998] Chr17:4946013 [GRCh38]
Chr17:4849308 [GRCh37]
Chr17:17p13.2		 benign
NM_005022.4(PFN1):c.133-9C>T single nucleotide variant not provided [RCV003815060] Chr17:4946829 [GRCh38]
Chr17:4850124 [GRCh37]
Chr17:17p13.2		 likely benign
NM_005022.4(PFN1):c.24C>T (p.Ile8=) single nucleotide variant not provided [RCV003564099] Chr17:4948371 [GRCh38]
Chr17:4851666 [GRCh37]
Chr17:17p13.2		 likely benign
NM_005022.4(PFN1):c.326-13C>A single nucleotide variant not provided [RCV003684483] Chr17:4946010 [GRCh38]
Chr17:4849305 [GRCh37]
Chr17:17p13.2		 likely benign
NM_005022.4(PFN1):c.409C>T (p.Arg137Cys) single nucleotide variant not provided [RCV003554363] Chr17:4945914 [GRCh38]
Chr17:4849209 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_005022.4(PFN1):c.132+4C>T single nucleotide variant not provided [RCV003871023] Chr17:4948259 [GRCh38]
Chr17:4851554 [GRCh37]
Chr17:17p13.2		 uncertain significance
GRCh37/hg19 17p13.3-13.2(chr17:9474-6017500)x1 copy number loss not specified [RCV003987214] Chr17:9474..6017500 [GRCh37]
Chr17:17p13.3-13.2		 pathogenic
GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3 copy number gain not specified [RCV003987215] Chr17:525..21510992 [GRCh37]
Chr17:17p13.3-11.2		 pathogenic
NM_005022.4(PFN1):c.408G>T (p.Arg136=) single nucleotide variant not provided [RCV003844253] Chr17:4945915 [GRCh38]
Chr17:4849210 [GRCh37]
Chr17:17p13.2		 likely benign
NM_005022.4(PFN1):c.38C>T (p.Ala13Val) single nucleotide variant not provided [RCV003731917] Chr17:4948357 [GRCh38]
Chr17:4851652 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_005022.4(PFN1):c.132+5T>A single nucleotide variant not provided [RCV003734522] Chr17:4948258 [GRCh38]
Chr17:4851553 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_005022.4(PFN1):c.*7C>G single nucleotide variant PFN1-related condition [RCV003949679] Chr17:4945893 [GRCh38]
Chr17:4849188 [GRCh37]
Chr17:17p13.2		 likely benign
NM_005022.4(PFN1):c.279C>T (p.Thr93=) single nucleotide variant PFN1-related condition [RCV003967275] Chr17:4946674 [GRCh38]
Chr17:4849969 [GRCh37]
Chr17:17p13.2		 likely benign
NM_005022.4(PFN1):c.136G>C (p.Ala46Pro) single nucleotide variant Inborn genetic diseases [RCV004498469] Chr17:4946817 [GRCh38]
Chr17:4850112 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_005022.4(PFN1):c.352G>A (p.Gly118Ser) single nucleotide variant Inborn genetic diseases [RCV004498470] Chr17:4945971 [GRCh38]
Chr17:4849266 [GRCh37]
Chr17:17p13.2		 uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR182hsa-miR-182-5pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI23430586
MIR182hsa-miR-182-5pOncomiRDBexternal_infoNANA23430586

Predicted Target Of
Summary Value
Count of predictions:822
Count of miRNA genes:383
Interacting mature miRNAs:412
Transcripts:ENST00000225655, ENST00000572383, ENST00000574872
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
D17S1578  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37174,852,530 - 4,852,628UniSTSGRCh37
Build 36174,793,275 - 4,793,373RGDNCBI36
Celera174,867,341 - 4,867,439RGD
Cytogenetic Map17pter-p11UniSTS
Cytogenetic Map17p13.3UniSTS
HuRef174,740,120 - 4,740,218UniSTS
GDB:189976  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37174,848,996 - 4,849,192UniSTSGRCh37
Build 36174,789,741 - 4,789,937RGDNCBI36
Celera174,863,807 - 4,864,003RGD
Cytogenetic Map17p13.3UniSTS
HuRef174,736,586 - 4,736,782UniSTS


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 271 498 40 30 953 32 315 89 59 65 216 182 9 3 64
Medium 2161 2486 1683 592 995 432 4040 2104 3649 353 1232 1426 162 1201 2724 4
Low 7 6 2 2 3 1 2 4 22 1 10 5 4 1 2 2
Below cutoff 1 1 3 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NG_032945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001375991 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA358044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC004771 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC109333 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312168 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL525538 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002475 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC006768 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC013439 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC057828 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM850671 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT007001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR407670 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D28377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GU727630 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J03191 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000225655   ⟹   ENSP00000225655
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl174,945,652 - 4,948,530 (-)Ensembl
RefSeq Acc Id: ENST00000572383   ⟹   ENSP00000460363
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl174,946,693 - 4,949,061 (-)Ensembl
RefSeq Acc Id: ENST00000574872   ⟹   ENSP00000465019
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl174,945,667 - 4,947,469 (-)Ensembl
RefSeq Acc Id: NM_001375991   ⟹   NP_001362920
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38174,945,652 - 4,948,530 (-)NCBI
T2T-CHM13v2.0174,836,000 - 4,838,878 (-)NCBI
Sequence:
RefSeq Acc Id: NM_005022   ⟹   NP_005013
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38174,945,652 - 4,948,530 (-)NCBI
GRCh37174,848,945 - 4,852,381 (-)NCBI
Build 36174,789,692 - 4,792,570 (-)NCBI Archive
HuRef174,736,535 - 4,739,971 (-)NCBI
CHM1_1174,858,279 - 4,861,714 (-)NCBI
T2T-CHM13v2.0174,836,000 - 4,838,878 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_005013   ⟸   NM_005022
- Peptide Label: isoform 2
- UniProtKB: Q53Y44 (UniProtKB/Swiss-Prot),   P07737 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001362920   ⟸   NM_001375991
- Peptide Label: isoform 1
RefSeq Acc Id: ENSP00000460363   ⟸   ENST00000572383
RefSeq Acc Id: ENSP00000465019   ⟸   ENST00000574872
RefSeq Acc Id: ENSP00000225655   ⟸   ENST00000225655

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P07737-F1-model_v2 AlphaFold P07737 1-140 view protein structure

Promoters
RGD ID:6794419
Promoter ID:HG_KWN:24762
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid
Transcripts:UC002FZZ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36174,790,676 - 4,792,252 (-)MPROMDB
RGD ID:6794420
Promoter ID:HG_KWN:24763
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000216853
Position:
Human AssemblyChrPosition (strand)Source
Build 36174,792,411 - 4,793,862 (-)MPROMDB
RGD ID:6851508
Promoter ID:EP73555
Type:initiation region
Name:HS_PFN1
Description:Profilin 1.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 36174,792,570 - 4,792,630EPD
RGD ID:7233487
Promoter ID:EPDNEW_H22490
Type:initiation region
Name:PFN1_1
Description:profilin 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38174,948,530 - 4,948,590EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8881 AgrOrtholog
COSMIC PFN1 COSMIC
Ensembl Genes ENSG00000108518 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000225655 ENTREZGENE
  ENST00000225655.6 UniProtKB/Swiss-Prot
  ENST00000572383.1 UniProtKB/TrEMBL
  ENST00000574872.1 UniProtKB/TrEMBL
Gene3D-CATH Dynein light chain 2a, cytoplasmic UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000108518 GTEx
HGNC ID HGNC:8881 ENTREZGENE
Human Proteome Map PFN1 Human Proteome Map
InterPro PFN UniProtKB/Swiss-Prot
  PFN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PFN UniProtKB/TrEMBL
  PFN_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Profilin1/2/3_vertebrate UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Profilin_CS UniProtKB/Swiss-Prot
KEGG Report hsa:5216 UniProtKB/Swiss-Prot
NCBI Gene 5216 ENTREZGENE
OMIM 176610 OMIM
PANTHER PROFILIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR13936:SF14 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Profilin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33219 PharmGKB
PRINTS PROFILINMAML UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE PROFILIN UniProtKB/Swiss-Prot
SMART PROF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF55770 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt I3L3D5_HUMAN UniProtKB/TrEMBL
  K7EJ44_HUMAN UniProtKB/TrEMBL
  P07737 ENTREZGENE, UniProtKB/Swiss-Prot
  Q53Y44 ENTREZGENE
UniProt Secondary Q53Y44 UniProtKB/Swiss-Prot