PPFIA3 (PTPRF interacting protein alpha 3) - Rat Genome Database

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Gene: PPFIA3 (PTPRF interacting protein alpha 3) Homo sapiens
Analyze
Symbol: PPFIA3
Name: PTPRF interacting protein alpha 3
RGD ID: 1312318
HGNC Page HGNC:9247
Description: Predicted to be involved in neurotransmitter secretion; regulation of short-term neuronal synaptic plasticity; and synapse organization. Located in acrosomal vesicle.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: KIAA0654; liprin; liprin-alpha 3; liprin-alpha-3; LPNA3; MGC126567; MGC126569; protein tyrosine phosphatase receptor type f polypeptide-interacting protein alpha-3; protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3; PTPRF-interacting protein alpha-3
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381949,119,544 - 49,151,026 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1949,119,544 - 49,151,026 (+)EnsemblGRCh38hg38GRCh38
GRCh371949,622,801 - 49,654,283 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361954,314,475 - 54,346,095 (+)NCBINCBI36Build 36hg18NCBI36
Build 341954,314,474 - 54,346,090NCBI
Celera1946,489,883 - 46,521,507 (+)NCBICelera
Cytogenetic Map19q13.33NCBI
HuRef1945,998,810 - 46,030,520 (+)NCBIHuRef
CHM1_11949,624,758 - 49,656,397 (+)NCBICHM1_1
T2T-CHM13v2.01952,114,278 - 52,145,758 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function
protein binding  (IPI,ISO)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:9624153   PMID:9734811   PMID:12168954   PMID:12477932   PMID:12923177   PMID:14702039   PMID:15217342   PMID:15489334   PMID:16344560   PMID:17474147   PMID:18782753   PMID:21873635  
PMID:23124857   PMID:23443559   PMID:26186194   PMID:26496610   PMID:27143812   PMID:27880917   PMID:28330616   PMID:28514442   PMID:29117863   PMID:29121065   PMID:29676528   PMID:30021884  
PMID:31182584   PMID:31300519   PMID:31753913   PMID:32296183   PMID:32918875   PMID:33187986   PMID:33961781   PMID:34187934   PMID:35063084   PMID:35271311   PMID:35906200   PMID:38181735  


Genomics

Comparative Map Data
PPFIA3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381949,119,544 - 49,151,026 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1949,119,544 - 49,151,026 (+)EnsemblGRCh38hg38GRCh38
GRCh371949,622,801 - 49,654,283 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361954,314,475 - 54,346,095 (+)NCBINCBI36Build 36hg18NCBI36
Build 341954,314,474 - 54,346,090NCBI
Celera1946,489,883 - 46,521,507 (+)NCBICelera
Cytogenetic Map19q13.33NCBI
HuRef1945,998,810 - 46,030,520 (+)NCBIHuRef
CHM1_11949,624,758 - 49,656,397 (+)NCBICHM1_1
T2T-CHM13v2.01952,114,278 - 52,145,758 (+)NCBIT2T-CHM13v2.0
Ppfia3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39744,988,550 - 45,016,443 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl744,988,546 - 45,016,443 (-)EnsemblGRCm39 Ensembl
GRCm38745,339,126 - 45,367,019 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl745,339,122 - 45,367,019 (-)EnsemblGRCm38mm10GRCm38
MGSCv37752,594,496 - 52,622,389 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36745,207,315 - 45,234,968 (-)NCBIMGSCv36mm8
Celera740,795,384 - 40,839,554 (-)NCBICelera
Cytogenetic Map7B3NCBI
cM Map729.26NCBI
Ppfia3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81104,953,598 - 104,982,373 (-)NCBIGRCr8
mRatBN7.2195,817,110 - 95,845,950 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl195,817,110 - 95,845,798 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1101,202,552 - 101,231,232 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01109,675,227 - 109,703,909 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01102,965,627 - 102,994,309 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01101,328,547 - 101,357,391 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1101,327,998 - 101,351,879 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01102,392,070 - 102,421,097 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4195,808,898 - 95,837,739 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1195,890,235 - 95,915,719 (-)NCBI
Celera190,073,489 - 90,102,099 (-)NCBICelera
Cytogenetic Map1q22NCBI
Ppfia3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555591,587,638 - 1,610,064 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555591,587,633 - 1,610,065 (-)NCBIChiLan1.0ChiLan1.0
PPFIA3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22055,234,484 - 55,265,941 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11957,153,939 - 57,185,473 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01946,130,396 - 46,162,065 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11955,056,824 - 55,089,124 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1955,056,824 - 55,089,124 (+)Ensemblpanpan1.1panPan2
PPFIA3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11107,308,903 - 107,327,300 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1107,319,427 - 107,331,463 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1106,896,610 - 106,908,657 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01107,833,772 - 107,856,380 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1107,833,777 - 107,856,389 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11107,501,869 - 107,524,288 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01107,148,102 - 107,170,513 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01107,983,689 - 108,006,115 (-)NCBIUU_Cfam_GSD_1.0
Ppfia3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934921,445,428 - 21,469,838 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366643,063,564 - 3,089,481 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366643,063,607 - 3,088,031 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PPFIA3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl654,313,981 - 54,337,338 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1654,313,981 - 54,337,345 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2649,991,058 - 50,014,411 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PPFIA3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1642,342,791 - 42,372,598 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl642,350,203 - 42,371,720 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607322,235,101 - 22,265,781 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ppfia3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248324,941,766 - 4,964,602 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248324,941,760 - 4,964,615 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PPFIA3
50 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3 copy number gain See cases [RCV000052914] Chr19:47908540..58539965 [GRCh38]
Chr19:48411797..59051332 [GRCh37]
Chr19:53103609..63743144 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3 copy number gain See cases [RCV000052915] Chr19:47929575..58572206 [GRCh38]
Chr19:48432832..59083573 [GRCh37]
Chr19:53124644..63775385 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic
NM_003660.4(PPFIA3):c.3307del (p.Glu1103fs) deletion Neurodevelopmental delay [RCV003315465] Chr19:49149277 [GRCh38]
Chr19:49652534 [GRCh37]
Chr19:19q13.33		 likely pathogenic
GRCh37/hg19 19q13.33(chr19:49635951-49675233)x3 copy number gain not provided [RCV000752728] Chr19:49635951..49675233 [GRCh37]
Chr19:19q13.33		 benign
GRCh37/hg19 19q13.33(chr19:49556215-49651042)x1 copy number loss not provided [RCV000752727] Chr19:49556215..49651042 [GRCh37]
Chr19:19q13.33		 benign
GRCh37/hg19 19q13.33(chr19:49640002-49675233)x3 copy number gain not provided [RCV000752730] Chr19:49640002..49675233 [GRCh37]
Chr19:19q13.33		 benign
GRCh37/hg19 19q13.33(chr19:49640430-49703840)x3 copy number gain See cases [RCV000448232] Chr19:49640430..49703840 [GRCh37]
Chr19:19q13.33		 likely benign
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
NM_003660.4(PPFIA3):c.698G>A (p.Arg233Gln) single nucleotide variant Inborn genetic diseases [RCV003254019] Chr19:49130418 [GRCh38]
Chr19:49633675 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_003660.4(PPFIA3):c.2158C>T (p.Arg720Cys) single nucleotide variant Inborn genetic diseases [RCV003277327] Chr19:49139749 [GRCh38]
Chr19:49643006 [GRCh37]
Chr19:19q13.33		 uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic|uncertain significance
NM_003660.4(PPFIA3):c.1765G>A (p.Glu589Lys) single nucleotide variant Inborn genetic diseases [RCV003254840] Chr19:49136823 [GRCh38]
Chr19:49640080 [GRCh37]
Chr19:19q13.33		 uncertain significance
GRCh37/hg19 19q13.33(chr19:49645600-49891280)x3 copy number gain not provided [RCV000684076] Chr19:49645600..49891280 [GRCh37]
Chr19:19q13.33		 uncertain significance
GRCh37/hg19 19q13.33(chr19:49635951-49678085)x3 copy number gain not provided [RCV000752729] Chr19:49635951..49678085 [GRCh37]
Chr19:19q13.33		 benign
GRCh37/hg19 19q13.33(chr19:49651042-49660889)x0 copy number loss not provided [RCV000752731] Chr19:49651042..49660889 [GRCh37]
Chr19:19q13.33		 benign
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
NM_003660.4(PPFIA3):c.2717C>T (p.Ser906Leu) single nucleotide variant Neurodevelopmental delay [RCV003315464] Chr19:49142976 [GRCh38]
Chr19:49646233 [GRCh37]
Chr19:19q13.33		 likely pathogenic
NM_003660.4(PPFIA3):c.1744G>A (p.Ala582Thr) single nucleotide variant Inborn genetic diseases [RCV003290250] Chr19:49136802 [GRCh38]
Chr19:49640059 [GRCh37]
Chr19:19q13.33		 uncertain significance
GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3 copy number gain not provided [RCV001007050] Chr19:44738088..53621561 [GRCh37]
Chr19:19q13.31-13.42		 pathogenic
GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871) copy number gain not provided [RCV001249294] Chr19:47939842..54626871 [GRCh37]
Chr19:19q13.32-13.42		 not provided
GRCh37/hg19 19q13.33(chr19:49600909-51366070)x3 copy number gain not provided [RCV000847250] Chr19:49600909..51366070 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_003660.4(PPFIA3):c.1243C>T (p.Arg415Trp) single nucleotide variant PPFIA3-related disorder [RCV003492820]|not provided [RCV003128212] Chr19:49133877 [GRCh38]
Chr19:49637134 [GRCh37]
Chr19:19q13.33		 pathogenic|uncertain significance
NM_003660.4(PPFIA3):c.115C>T (p.Arg39Cys) single nucleotide variant not provided [RCV003128211] Chr19:49127988 [GRCh38]
Chr19:49631245 [GRCh37]
Chr19:19q13.33		 pathogenic
NM_003660.4(PPFIA3):c.1638G>T (p.Trp546Cys) single nucleotide variant not provided [RCV003128213] Chr19:49135896 [GRCh38]
Chr19:49639153 [GRCh37]
Chr19:19q13.33		 likely pathogenic
NM_003660.4(PPFIA3):c.239A>C (p.Gln80Pro) single nucleotide variant not provided [RCV003128214] Chr19:49128112 [GRCh38]
Chr19:49631369 [GRCh37]
Chr19:19q13.33		 uncertain significance
GRCh37/hg19 19q13.33(chr19:49640430-49703884)x3 copy number gain not provided [RCV001249236] Chr19:49640430..49703884 [GRCh37]
Chr19:19q13.33		 not provided
NM_003660.4(PPFIA3):c.1492C>T (p.Arg498Trp) single nucleotide variant PPFIA3-related disorder [RCV003327595] Chr19:49134887 [GRCh38]
Chr19:49638144 [GRCh37]
Chr19:19q13.33		 likely pathogenic
NM_003660.4(PPFIA3):c.2907A>G (p.Gln969=) single nucleotide variant not provided [RCV001171809] Chr19:49148154 [GRCh38]
Chr19:49651411 [GRCh37]
Chr19:19q13.33		 likely benign
GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3 copy number gain not provided [RCV001259944] Chr19:48463931..57095254 [GRCh37]
Chr19:19q13.33-13.43		 pathogenic
NM_003660.4(PPFIA3):c.1619_1620del (p.Ala540fs) deletion not provided [RCV001280727] Chr19:49135877..49135878 [GRCh38]
Chr19:49639134..49639135 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_003660.4(PPFIA3):c.1687G>T (p.Ala563Ser) single nucleotide variant not provided [RCV001843609] Chr19:49136745 [GRCh38]
Chr19:49640002 [GRCh37]
Chr19:19q13.33		 benign
NC_000019.9:g.(?_49519325)_(50366015_?)dup duplication Developmental and epileptic encephalopathy, 12 [RCV002030046] Chr19:49519325..50366015 [GRCh37]
Chr19:19q13.33		 uncertain significance
NC_000019.9:g.(?_48618906)_(50921204_?)dup duplication Developmental and epileptic encephalopathy, 12 [RCV001939968]|not provided [RCV001916178] Chr19:48618906..50921204 [GRCh37]
Chr19:19q13.33		 uncertain significance
NC_000019.9:g.(?_49472545)_(49714755_?)del deletion Progressive familial heart block type IB [RCV003119771] Chr19:49472545..49714755 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_003660.4(PPFIA3):c.128T>A (p.Leu43Gln) single nucleotide variant not specified [RCV002248124] Chr19:49128001 [GRCh38]
Chr19:49631258 [GRCh37]
Chr19:19q13.33		 uncertain significance
Single allele duplication not provided [RCV002266854] Chr19:49131439..49174442 [GRCh38]
Chr19:19q13.33		 uncertain significance
NM_003660.4(PPFIA3):c.613C>G (p.Arg205Gly) single nucleotide variant Inborn genetic diseases [RCV002990267] Chr19:49130023 [GRCh38]
Chr19:49633280 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_003660.4(PPFIA3):c.294G>C (p.Glu98Asp) single nucleotide variant Inborn genetic diseases [RCV002946511] Chr19:49128420 [GRCh38]
Chr19:49631677 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_003660.4(PPFIA3):c.698G>C (p.Arg233Pro) single nucleotide variant Inborn genetic diseases [RCV002793543] Chr19:49130418 [GRCh38]
Chr19:49633675 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_003660.4(PPFIA3):c.3493C>G (p.Pro1165Ala) single nucleotide variant Inborn genetic diseases [RCV002818730] Chr19:49149685 [GRCh38]
Chr19:49652942 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_003660.4(PPFIA3):c.1985C>G (p.Ser662Cys) single nucleotide variant Inborn genetic diseases [RCV002799748] Chr19:49138336 [GRCh38]
Chr19:49641593 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_003660.4(PPFIA3):c.1577C>T (p.Ser526Phe) single nucleotide variant Inborn genetic diseases [RCV002846130] Chr19:49135835 [GRCh38]
Chr19:49639092 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_003660.4(PPFIA3):c.1403A>G (p.Asn468Ser) single nucleotide variant Inborn genetic diseases [RCV002874156] Chr19:49134664 [GRCh38]
Chr19:49637921 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_003660.4(PPFIA3):c.260A>G (p.Lys87Arg) single nucleotide variant Inborn genetic diseases [RCV002763122] Chr19:49128386 [GRCh38]
Chr19:49631643 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_003660.4(PPFIA3):c.739G>A (p.Ala247Thr) single nucleotide variant Inborn genetic diseases [RCV002873066] Chr19:49130459 [GRCh38]
Chr19:49633716 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_003660.4(PPFIA3):c.1603G>A (p.Ala535Thr) single nucleotide variant Inborn genetic diseases [RCV002941813] Chr19:49135861 [GRCh38]
Chr19:49639118 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_003660.4(PPFIA3):c.978C>G (p.Asn326Lys) single nucleotide variant Inborn genetic diseases [RCV002921028] Chr19:49133099 [GRCh38]
Chr19:49636356 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_003660.4(PPFIA3):c.700C>T (p.Arg234Cys) single nucleotide variant Inborn genetic diseases [RCV002807977] Chr19:49130420 [GRCh38]
Chr19:49633677 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_003660.4(PPFIA3):c.3152C>A (p.Ser1051Tyr) single nucleotide variant Inborn genetic diseases [RCV003209334] Chr19:49149035 [GRCh38]
Chr19:49652292 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_003660.4(PPFIA3):c.327A>T (p.Glu109Asp) single nucleotide variant Inborn genetic diseases [RCV003217047] Chr19:49128453 [GRCh38]
Chr19:49631710 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_003660.4(PPFIA3):c.1126G>A (p.Ala376Thr) single nucleotide variant Inborn genetic diseases [RCV003193961] Chr19:49133336 [GRCh38]
Chr19:49636593 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_003660.4(PPFIA3):c.309T>G (p.Ile103Met) single nucleotide variant Inborn genetic diseases [RCV003185595] Chr19:49128435 [GRCh38]
Chr19:49631692 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_003660.4(PPFIA3):c.1285C>T (p.Arg429Trp) single nucleotide variant PPFIA3-related disorder [RCV003320000] Chr19:49134073 [GRCh38]
Chr19:49637330 [GRCh37]
Chr19:19q13.33		 likely pathogenic
NM_003660.4(PPFIA3):c.2350C>T (p.Arg784Trp) single nucleotide variant PPFIA3-related disorder [RCV003320001] Chr19:49140070 [GRCh38]
Chr19:49643327 [GRCh37]
Chr19:19q13.33		 pathogenic
NM_003660.4(PPFIA3):c.1675C>T (p.Arg559Trp) single nucleotide variant PPFIA3-related disorder [RCV003319999] Chr19:49136733 [GRCh38]
Chr19:49639990 [GRCh37]
Chr19:19q13.33		 likely pathogenic
NM_003660.4(PPFIA3):c.2609T>A (p.Ile870Asn) single nucleotide variant not provided [RCV003334375] Chr19:49142868 [GRCh38]
Chr19:49646125 [GRCh37]
Chr19:19q13.33		 likely pathogenic
NM_003660.4(PPFIA3):c.2186_2193del (p.Gln729fs) deletion not provided [RCV003456595] Chr19:49139777..49139784 [GRCh38]
Chr19:49643034..49643041 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_003660.4(PPFIA3):c.2706dup (p.Ser903fs) duplication PPFIA3-related disorder [RCV003444191] Chr19:49142964..49142965 [GRCh38]
Chr19:49646221..49646222 [GRCh37]
Chr19:19q13.33		 likely pathogenic
GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3 copy number gain not provided [RCV003485200] Chr19:49625130..57647352 [GRCh37]
Chr19:19q13.33-13.43		 likely pathogenic
GRCh37/hg19 19q13.33-13.41(chr19:48905537-51614930)x3 copy number gain not specified [RCV003986127] Chr19:48905537..51614930 [GRCh37]
Chr19:19q13.33-13.41		 likely pathogenic
Single allele deletion PPFIA3-related disorder [RCV003991563] Chr19:49143485..49159174 [GRCh38]
Chr19:19q13.33		 likely pathogenic
NM_003660.4(PPFIA3):c.2377C>A (p.Pro793Thr) single nucleotide variant PPFIA3-related disorder [RCV003991564] Chr19:49141428 [GRCh38]
Chr19:49644685 [GRCh37]
Chr19:19q13.33		 likely pathogenic
NM_003660.4(PPFIA3):c.2276A>G (p.Lys759Arg) single nucleotide variant PPFIA3-related disorder [RCV003991565] Chr19:49139996 [GRCh38]
Chr19:49643253 [GRCh37]
Chr19:19q13.33		 likely pathogenic
NM_003660.4(PPFIA3):c.118G>A (p.Glu40Lys) single nucleotide variant PPFIA3-related disorder [RCV003991560] Chr19:49127991 [GRCh38]
Chr19:49631248 [GRCh37]
Chr19:19q13.33		 likely pathogenic
NM_003660.4(PPFIA3):c.240+1G>A single nucleotide variant PPFIA3-related disorder [RCV003991561] Chr19:49128114 [GRCh38]
Chr19:49631371 [GRCh37]
Chr19:19q13.33		 likely pathogenic
NM_003660.4(PPFIA3):c.586_587del (p.Leu196fs) microsatellite PPFIA3-associated neurodevelopmental disorder [RCV003885429] Chr19:49129994..49129995 [GRCh38]
Chr19:49633251..49633252 [GRCh37]
Chr19:19q13.33		 pathogenic|likely pathogenic
NM_003660.4(PPFIA3):c.943G>T (p.Ala315Ser) single nucleotide variant PPFIA3-related disorder [RCV003991562] Chr19:49133064 [GRCh38]
Chr19:49636321 [GRCh37]
Chr19:19q13.33		 likely pathogenic
NM_003660.4(PPFIA3):c.2143C>G (p.Pro715Ala) single nucleotide variant Inborn genetic diseases [RCV004506952] Chr19:49139734 [GRCh38]
Chr19:49642991 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_003660.4(PPFIA3):c.2209T>G (p.Ser737Ala) single nucleotide variant Inborn genetic diseases [RCV004506953] Chr19:49139800 [GRCh38]
Chr19:49643057 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_003660.4(PPFIA3):c.2495G>A (p.Gly832Asp) single nucleotide variant Inborn genetic diseases [RCV004506954] Chr19:49142066 [GRCh38]
Chr19:49645323 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_003660.4(PPFIA3):c.2515G>A (p.Asp839Asn) single nucleotide variant Inborn genetic diseases [RCV004506955] Chr19:49142086 [GRCh38]
Chr19:49645343 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_003660.4(PPFIA3):c.1157A>G (p.Asn386Ser) single nucleotide variant Inborn genetic diseases [RCV004506950] Chr19:49133367 [GRCh38]
Chr19:49636624 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_003660.4(PPFIA3):c.1209G>C (p.Glu403Asp) single nucleotide variant Inborn genetic diseases [RCV004506951] Chr19:49133843 [GRCh38]
Chr19:49637100 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_003660.4(PPFIA3):c.964C>G (p.Leu322Val) single nucleotide variant Inborn genetic diseases [RCV004506959] Chr19:49133085 [GRCh38]
Chr19:49636342 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_003660.4(PPFIA3):c.3228G>C (p.Glu1076Asp) single nucleotide variant Inborn genetic diseases [RCV004506956] Chr19:49149111 [GRCh38]
Chr19:49652368 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_003660.4(PPFIA3):c.381C>G (p.His127Gln) single nucleotide variant Inborn genetic diseases [RCV004506957] Chr19:49128886 [GRCh38]
Chr19:49632143 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_003660.4(PPFIA3):c.645T>G (p.Asp215Glu) single nucleotide variant Inborn genetic diseases [RCV004506958] Chr19:49130055 [GRCh38]
Chr19:49633312 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_003660.4(PPFIA3):c.1909C>T (p.Arg637Trp) single nucleotide variant Inborn genetic diseases [RCV004656090] Chr19:49138260 [GRCh38]
Chr19:49641517 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_003660.4(PPFIA3):c.2353G>T (p.Asp785Tyr) single nucleotide variant Inborn genetic diseases [RCV004656091] Chr19:49140073 [GRCh38]
Chr19:49643330 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_003660.4(PPFIA3):c.507G>T (p.Lys169Asn) single nucleotide variant Inborn genetic diseases [RCV004656092] Chr19:49129012 [GRCh38]
Chr19:49632269 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_003660.4(PPFIA3):c.902T>C (p.Met301Thr) single nucleotide variant Inborn genetic diseases [RCV004656093] Chr19:49133023 [GRCh38]
Chr19:49636280 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_003660.4(PPFIA3):c.2470C>G (p.Leu824Val) single nucleotide variant Inborn genetic diseases [RCV004664802] Chr19:49142041 [GRCh38]
Chr19:49645298 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_003660.4(PPFIA3):c.281_285del (p.Glu94fs) deletion not provided [RCV004729231] Chr19:49128406..49128410 [GRCh38]
Chr19:49631663..49631667 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_003660.4(PPFIA3):c.3318C>A (p.Asn1106Lys) single nucleotide variant not provided [RCV004729277] Chr19:49149289 [GRCh38]
Chr19:49652546 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_003660.4(PPFIA3):c.213G>T (p.Gln71His) single nucleotide variant not provided [RCV004726175] Chr19:49128086 [GRCh38]
Chr19:49631343 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_003660.4(PPFIA3):c.1521-2A>G single nucleotide variant not provided [RCV004760859]   uncertain significance
NM_003660.4(PPFIA3):c.887C>T (p.Ala296Val) single nucleotide variant not provided [RCV004725735] Chr19:49133008 [GRCh38]
Chr19:49636265 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_003660.4(PPFIA3):c.1223A>G (p.Glu408Gly) single nucleotide variant not provided [RCV004765994] Chr19:49133857 [GRCh38]
Chr19:49637114 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_003660.4(PPFIA3):c.952G>T (p.Glu318Ter) single nucleotide variant not provided [RCV004727633] Chr19:49133073 [GRCh38]
Chr19:49636330 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_003660.4(PPFIA3):c.2692A>G (p.Ile898Val) single nucleotide variant not provided [RCV004769515] Chr19:49142951 [GRCh38]
Chr19:49646208 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_003660.4(PPFIA3):c.1885C>T (p.Gln629Ter) single nucleotide variant not provided [RCV004759966]   uncertain significance
NM_003660.4(PPFIA3):c.241-1G>A single nucleotide variant not provided [RCV004776098] Chr19:49128366 [GRCh38]
Chr19:49631623 [GRCh37]
Chr19:19q13.33		 likely pathogenic
NM_003660.4(PPFIA3):c.3047G>A (p.Arg1016Gln) single nucleotide variant not provided [RCV004772579] Chr19:49148701 [GRCh38]
Chr19:49651958 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_003660.4(PPFIA3):c.172C>A (p.Leu58Met) single nucleotide variant not provided [RCV004776240] Chr19:49128045 [GRCh38]
Chr19:49631302 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_003660.4(PPFIA3):c.2809-7G>A single nucleotide variant PPFIA3-associated neurodevelopmental disorder [RCV004759526]   uncertain significance
NM_003660.4(PPFIA3):c.2600G>C (p.Ser867Thr) single nucleotide variant not provided [RCV004727619] Chr19:49142859 [GRCh38]
Chr19:49646116 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_003660.4(PPFIA3):c.1224GAA[1] (p.Lys409del) microsatellite not provided [RCV004771196] Chr19:49133857..49133859 [GRCh38]
Chr19:49637114..49637116 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_003660.4(PPFIA3):c.1725C>A (p.Asp575Glu) single nucleotide variant not provided [RCV004729194] Chr19:49136783 [GRCh38]
Chr19:49640040 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_003660.4(PPFIA3):c.2488C>T (p.Arg830Cys) single nucleotide variant not provided [RCV004761214]   uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4711
Count of miRNA genes:1054
Interacting mature miRNAs:1325
Transcripts:ENST00000334186, ENST00000421230, ENST00000602351, ENST00000602492, ENST00000602509, ENST00000602655, ENST00000602716, ENST00000602726, ENST00000602783, ENST00000602800, ENST00000602848, ENST00000602897, ENST00000602905
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407266310GWAS915286_Hbody height QTL GWAS915286 (human)2e-37body height (VT:0001253)body height (CMO:0000106)194914028049140281Human
1559110SCL22_HSerum cholesterol level QTL 22 (human)3.590.000241Lipid levelLDL cholesterol193190759457907594Human
406931824GWAS580800_Hbody mass index QTL GWAS580800 (human)1e-10body mass indexbody mass index (BMI) (CMO:0000105)194914274949142750Human
407340804GWAS989780_Hbody mass index QTL GWAS989780 (human)2e-09body mass indexbody mass index (BMI) (CMO:0000105)194914274949142750Human
406946690GWAS595666_HVitiligo, response to rhododendrol QTL GWAS595666 (human)0.000009Vitiligo, response to rhododendrol194914706249147063Human
406996615GWAS645591_Hbody height QTL GWAS645591 (human)4e-08body height (VT:0001253)body height (CMO:0000106)194914274949142750Human
407290465GWAS939441_Hbody weight QTL GWAS939441 (human)2e-09body mass (VT:0001259)body weight (CMO:0000012)194914887149148872Human
407344973GWAS993949_Hschizophrenia QTL GWAS993949 (human)0.000004schizophrenia194914706249147063Human
407095848GWAS744824_Hbody mass index QTL GWAS744824 (human)3e-09body mass indexbody mass index (BMI) (CMO:0000105)194914321949143220Human
1331657COPD9_HChronic obstructive pulmonary disease QTL 9 (human)1.94Chronic airflow obstructionpost-bronchodilator FEV1193102176057021760Human
407096413GWAS745389_Hbody mass index QTL GWAS745389 (human)7e-10body mass indexbody mass index (BMI) (CMO:0000105)194914274949142750Human
407063580GWAS712556_Hbody mass index QTL GWAS712556 (human)2e-10body mass indexbody mass index (BMI) (CMO:0000105)194914321949143220Human

Markers in Region
D1S2695  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371110,696,107 - 110,696,211UniSTSGRCh37
Build 361110,497,630 - 110,497,734RGDNCBI36
Celera1108,943,282 - 108,943,386RGD
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p13.3UniSTS
HuRef1946,000,765 - 46,001,831UniSTS
HuRef1108,567,800 - 108,567,924UniSTS
Marshfield Genetic Map1143.31UniSTS
Marshfield Genetic Map1143.31RGD
Genethon Genetic Map1147.9UniSTS
deCODE Assembly Map1130.9UniSTS
GDB:182000  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371949,650,922 - 49,651,035UniSTSGRCh37
Build 361954,342,734 - 54,342,847RGDNCBI36
Celera1946,518,144 - 46,518,259RGD
Cytogenetic Map19q13.33UniSTS
HuRef1946,027,160 - 46,027,269UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2436 2788 2245 4969 1725 2347 4 622 1939 464 2268 7278 6446 50 3734 850 1736 1613 173 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_003660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_103842 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017027407 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047439582 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047439583 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054322460 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054322461 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054322462 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007067023 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007067024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008485214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008485215 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB014554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC008687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC008891 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC096864 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC245081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF034800 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI346749 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001525 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023850 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025972 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289757 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293798 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308483 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC021255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC101518 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC101520 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143470 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU632015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX111585 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA236900 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ000070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF456593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000334186   ⟹   ENSP00000335614
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,119,544 - 49,151,026 (+)Ensembl
Ensembl Acc Id: ENST00000421230
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,128,327 - 49,142,918 (+)Ensembl
Ensembl Acc Id: ENST00000602351   ⟹   ENSP00000473622
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,127,874 - 49,151,026 (+)Ensembl
Ensembl Acc Id: ENST00000602492
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,128,020 - 49,130,428 (+)Ensembl
Ensembl Acc Id: ENST00000602509   ⟹   ENSP00000473621
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,125,351 - 49,128,945 (+)Ensembl
Ensembl Acc Id: ENST00000602655   ⟹   ENSP00000473470
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,119,664 - 49,150,279 (+)Ensembl
Ensembl Acc Id: ENST00000602716
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,128,289 - 49,137,240 (+)Ensembl
Ensembl Acc Id: ENST00000602726
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,128,580 - 49,130,599 (+)Ensembl
Ensembl Acc Id: ENST00000602783
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,149,958 - 49,151,021 (+)Ensembl
Ensembl Acc Id: ENST00000602800
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,145,687 - 49,146,408 (+)Ensembl
Ensembl Acc Id: ENST00000602848   ⟹   ENSP00000473418
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,142,984 - 49,151,026 (+)Ensembl
Ensembl Acc Id: ENST00000602897   ⟹   ENSP00000473423
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,148,101 - 49,151,021 (+)Ensembl
Ensembl Acc Id: ENST00000602905
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,148,573 - 49,150,354 (+)Ensembl
RefSeq Acc Id: NM_003660   ⟹   NP_003651
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381949,119,544 - 49,151,026 (+)NCBI
GRCh371949,622,646 - 49,654,287 (+)NCBI
Build 361954,314,475 - 54,346,095 (+)NCBI Archive
Celera1946,489,883 - 46,521,507 (+)RGD
HuRef1945,998,810 - 46,030,520 (+)NCBI
CHM1_11949,624,758 - 49,656,397 (+)NCBI
T2T-CHM13v2.01952,114,278 - 52,145,758 (+)NCBI
Sequence:
RefSeq Acc Id: NR_103842
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381949,119,544 - 49,151,026 (+)NCBI
GRCh371949,622,646 - 49,654,287 (+)NCBI
HuRef1945,998,810 - 46,030,520 (+)NCBI
CHM1_11949,624,758 - 49,656,397 (+)NCBI
T2T-CHM13v2.01952,114,278 - 52,145,758 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017027407   ⟹   XP_016882896
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381949,119,544 - 49,151,026 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047439582   ⟹   XP_047295538
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381949,119,544 - 49,151,026 (+)NCBI
RefSeq Acc Id: XM_047439583   ⟹   XP_047295539
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381949,119,544 - 49,151,026 (+)NCBI
RefSeq Acc Id: XM_054322460   ⟹   XP_054178435
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01952,114,278 - 52,145,758 (+)NCBI
RefSeq Acc Id: XM_054322461   ⟹   XP_054178436
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01952,114,278 - 52,145,758 (+)NCBI
RefSeq Acc Id: XM_054322462   ⟹   XP_054178437
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01952,114,278 - 52,145,758 (+)NCBI
RefSeq Acc Id: XR_007067023
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381949,119,544 - 49,151,026 (+)NCBI
RefSeq Acc Id: XR_007067024
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381949,119,544 - 49,151,026 (+)NCBI
RefSeq Acc Id: XR_008485214
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01952,114,278 - 52,145,758 (+)NCBI
RefSeq Acc Id: XR_008485215
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01952,114,278 - 52,145,758 (+)NCBI
RefSeq Acc Id: NP_003651   ⟸   NM_003660
- UniProtKB: Q9H8B5 (UniProtKB/Swiss-Prot),   Q3MJA0 (UniProtKB/Swiss-Prot),   A8K142 (UniProtKB/Swiss-Prot),   Q9UEW4 (UniProtKB/Swiss-Prot),   O75145 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016882896   ⟸   XM_017027407
- Peptide Label: isoform X2
- UniProtKB: O75145 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000335614   ⟸   ENST00000334186
Ensembl Acc Id: ENSP00000473418   ⟸   ENST00000602848
Ensembl Acc Id: ENSP00000473423   ⟸   ENST00000602897
Ensembl Acc Id: ENSP00000473470   ⟸   ENST00000602655
Ensembl Acc Id: ENSP00000473621   ⟸   ENST00000602509
Ensembl Acc Id: ENSP00000473622   ⟸   ENST00000602351
RefSeq Acc Id: XP_047295538   ⟸   XM_047439582
- Peptide Label: isoform X1
- UniProtKB: Q9H8B5 (UniProtKB/Swiss-Prot),   Q3MJA0 (UniProtKB/Swiss-Prot),   O75145 (UniProtKB/Swiss-Prot),   A8K142 (UniProtKB/Swiss-Prot),   Q9UEW4 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047295539   ⟸   XM_047439583
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054178435   ⟸   XM_054322460
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054178437   ⟸   XM_054322462
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054178436   ⟸   XM_054322461
- Peptide Label: isoform X2
Protein Domains
SAM

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O75145-F1-model_v2 AlphaFold O75145 1-1194 view protein structure

Promoters
RGD ID:13205079
Promoter ID:EPDNEW_H26120
Type:initiation region
Name:PPFIA3_3
Description:PTPRF interacting protein alpha 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H26121  EPDNEW_H26122  EPDNEW_H26125  EPDNEW_H26123  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381949,119,033 - 49,119,093EPDNEW
RGD ID:13205081
Promoter ID:EPDNEW_H26121
Type:initiation region
Name:PPFIA3_5
Description:PTPRF interacting protein alpha 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H26120  EPDNEW_H26122  EPDNEW_H26125  EPDNEW_H26123  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381949,119,325 - 49,119,385EPDNEW
RGD ID:13205083
Promoter ID:EPDNEW_H26122
Type:initiation region
Name:PPFIA3_1
Description:PTPRF interacting protein alpha 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H26120  EPDNEW_H26121  EPDNEW_H26125  EPDNEW_H26123  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381949,119,697 - 49,119,757EPDNEW
RGD ID:13205087
Promoter ID:EPDNEW_H26123
Type:initiation region
Name:PPFIA3_2
Description:PTPRF interacting protein alpha 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H26120  EPDNEW_H26121  EPDNEW_H26122  EPDNEW_H26125  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381949,128,251 - 49,128,311EPDNEW
RGD ID:13205085
Promoter ID:EPDNEW_H26125
Type:initiation region
Name:PPFIA3_4
Description:PTPRF interacting protein alpha 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H26120  EPDNEW_H26121  EPDNEW_H26122  EPDNEW_H26123  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381949,150,025 - 49,150,085EPDNEW
RGD ID:6795924
Promoter ID:HG_KWN:30518
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:ENST00000334329,   NM_003660
Position:
Human AssemblyChrPosition (strand)Source
Build 361954,313,664 - 54,314,164 (+)MPROMDB
RGD ID:6795923
Promoter ID:HG_KWN:30519
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:UC002PMS.2,   UC010EMT.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361954,323,021 - 54,323,602 (+)MPROMDB
RGD ID:6795705
Promoter ID:HG_KWN:30520
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:UC002PMT.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361954,337,789 - 54,338,289 (+)MPROMDB
RGD ID:6795704
Promoter ID:HG_KWN:30521
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:UC002PMU.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361954,343,231 - 54,343,731 (+)MPROMDB
RGD ID:6811717
Promoter ID:HG_ACW:42226
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   HeLa_S3,   K562,   NB4
Transcripts:PPFIA3.JAPR07-UNSPLICED,   PPFIA3.LAPR07,   PPFIA3.NAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 361954,344,441 - 54,345,317 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9247 AgrOrtholog
COSMIC PPFIA3 COSMIC
Ensembl Genes ENSG00000177380 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000334186 ENTREZGENE
  ENST00000334186.9 UniProtKB/Swiss-Prot
  ENST00000602351 ENTREZGENE
  ENST00000602351.5 UniProtKB/Swiss-Prot
  ENST00000602509.5 UniProtKB/TrEMBL
  ENST00000602655 ENTREZGENE
  ENST00000602655.5 UniProtKB/TrEMBL
  ENST00000602848.5 UniProtKB/TrEMBL
  ENST00000602897.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.150.50 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.10.287.1490 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000177380 GTEx
HGNC ID HGNC:9247 ENTREZGENE
Human Proteome Map PPFIA3 Human Proteome Map
InterPro Liprin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Liprin-alpha_SAM_rpt_1 UniProtKB/Swiss-Prot
  Liprin-alpha_SAM_rpt_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Liprin-alpha_SAM_rpt_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM/pointed_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:8541 UniProtKB/Swiss-Prot
NCBI Gene 8541 ENTREZGENE
OMIM 603144 OMIM
PANTHER PTHR12587 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR12587:SF4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam SAM_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33568 PharmGKB
PROSITE SAM_DOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SAM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47769 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0C4DGR7_HUMAN UniProtKB/TrEMBL
  A0A0C4DGR8_HUMAN UniProtKB/TrEMBL
  A8K142 ENTREZGENE
  LIPA3_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q3MJA0 ENTREZGENE
  Q9H8B5 ENTREZGENE
  Q9UEW4 ENTREZGENE
  R4GN36_HUMAN UniProtKB/TrEMBL
  R4GNF1_HUMAN UniProtKB/TrEMBL
UniProt Secondary A8K142 UniProtKB/Swiss-Prot
  Q3MJA0 UniProtKB/Swiss-Prot
  Q9H8B5 UniProtKB/Swiss-Prot
  Q9UEW4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-16 PPFIA3  PTPRF interacting protein alpha 3    protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3  Symbol and/or name change 5135510 APPROVED
2011-09-01 PPFIA3  protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3  PPFIA3  protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3  Symbol and/or name change 5135510 APPROVED