PPFIA2 (PTPRF interacting protein alpha 2) - Rat Genome Database

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Gene: PPFIA2 (PTPRF interacting protein alpha 2) Homo sapiens
Analyze
Symbol: PPFIA2
Name: PTPRF interacting protein alpha 2
RGD ID: 1312803
HGNC Page HGNC:9246
Description: Predicted to be a structural constituent of presynapse. Involved in dense core granule cytoskeletal transport; regulation of dendritic spine development; and regulation of dendritic spine morphogenesis. Located in dendritic spine.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: FLJ41378; liprin-alpha 2; liprin-alpha-2; MGC132572; protein tyrosine phosphatase receptor type f polypeptide-interacting protein alpha-2; PTPRF-interacting protein alpha-2
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
GRCh381281,257,975 - 81,759,350 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1281,257,975 - 81,759,553 (-)EnsemblGRCh38hg38GRCh38
GRCh371281,651,754 - 82,153,129 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361280,177,487 - 80,677,240 (-)NCBINCBI36Build 36hg18NCBI36
Build 341280,155,823 - 80,655,577NCBI
Celera1281,321,211 - 81,820,889 (-)NCBICelera
Cytogenetic Map12q21.31NCBI
HuRef1278,708,811 - 79,209,133 (-)NCBIHuRef
CHM1_11281,618,521 - 82,119,470 (-)NCBICHM1_1
T2T-CHM13v2.01281,236,956 - 81,738,412 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8889548   PMID:9624153   PMID:11931740   PMID:12119554   PMID:12477932   PMID:12629171   PMID:12923177   PMID:15217342   PMID:16344560   PMID:17043677   PMID:18782753   PMID:19056867  
PMID:20174665   PMID:20379614   PMID:21653829   PMID:21855798   PMID:21873635   PMID:22199357   PMID:22558309   PMID:22885689   PMID:23422819   PMID:24981860   PMID:25201988   PMID:25352737  
PMID:26740234   PMID:28330616   PMID:28611215   PMID:29676528   PMID:30021165   PMID:30879928   PMID:33961781   PMID:35063084   PMID:35256949   PMID:36215168  


Genomics

Comparative Map Data
PPFIA2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381281,257,975 - 81,759,350 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1281,257,975 - 81,759,553 (-)EnsemblGRCh38hg38GRCh38
GRCh371281,651,754 - 82,153,129 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361280,177,487 - 80,677,240 (-)NCBINCBI36Build 36hg18NCBI36
Build 341280,155,823 - 80,655,577NCBI
Celera1281,321,211 - 81,820,889 (-)NCBICelera
Cytogenetic Map12q21.31NCBI
HuRef1278,708,811 - 79,209,133 (-)NCBIHuRef
CHM1_11281,618,521 - 82,119,470 (-)NCBICHM1_1
T2T-CHM13v2.01281,236,956 - 81,738,412 (-)NCBIT2T-CHM13v2.0
Ppfia2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3910106,305,129 - 106,769,329 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl10106,306,200 - 106,771,813 (+)EnsemblGRCm39 Ensembl
GRCm3810106,469,500 - 106,933,468 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl10106,470,339 - 106,935,952 (+)EnsemblGRCm38mm10GRCm38
MGSCv3710105,907,395 - 106,369,574 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3610105,874,449 - 106,336,628 (+)NCBIMGSCv36mm8
Celera10108,413,090 - 108,874,050 (+)NCBICelera
Cytogenetic Map10D1NCBI
cM Map1055.39NCBI
Ppfia2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8743,652,258 - 44,126,555 (+)NCBIGRCr8
mRatBN7.2741,765,716 - 42,240,104 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl741,765,575 - 42,239,599 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx743,671,707 - 44,144,439 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0745,874,782 - 46,347,515 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0745,652,995 - 46,125,395 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0748,548,932 - 49,045,852 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl748,867,664 - 49,042,455 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0748,563,521 - 48,568,045 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.0748,658,858 - 49,058,116 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4745,140,154 - 45,616,620 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1745,160,426 - 45,636,728 (+)NCBI
Celera738,644,350 - 39,116,317 (+)NCBICelera
Cytogenetic Map7q21NCBI
Ppfia2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540519,839,092 - 20,286,578 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540519,837,749 - 20,291,666 (-)NCBIChiLan1.0ChiLan1.0
PPFIA2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21089,297,594 - 89,800,504 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11289,293,993 - 89,796,899 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01278,768,756 - 79,271,630 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11281,879,812 - 82,381,524 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1281,879,812 - 82,376,917 (-)Ensemblpanpan1.1panPan2
PPFIA2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11523,481,370 - 23,950,412 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1523,482,549 - 23,951,141 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1523,904,766 - 24,373,671 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01523,842,759 - 24,321,109 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1523,842,772 - 24,320,345 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11523,428,189 - 23,897,907 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01523,479,044 - 23,947,917 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01523,719,822 - 24,188,937 (-)NCBIUU_Cfam_GSD_1.0
Ppfia2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494536,381,131 - 36,821,732 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366982,094,374 - 2,531,465 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366982,090,768 - 2,531,366 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PPFIA2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl599,819,430 - 100,279,030 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1599,818,591 - 100,279,029 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.25105,054,270 - 105,195,571 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PPFIA2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11176,740,204 - 77,237,990 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1176,736,719 - 77,079,140 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666037168,176,151 - 168,685,075 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ppfia2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624837629,302 - 1,111,081 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624837627,484 - 1,116,597 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PPFIA2
61 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 12q15-21.31(chr12:70337484-81761145)x1 copy number loss See cases [RCV000051313] Chr12:70337484..81761145 [GRCh38]
Chr12:70731264..82154924 [GRCh37]
Chr12:69017531..80679055 [NCBI36]
Chr12:12q15-21.31		 pathogenic
GRCh38/hg38 12q21.31(chr12:80266605-85253555)x1 copy number loss See cases [RCV000051315] Chr12:80266605..85253555 [GRCh38]
Chr12:80660385..85647333 [GRCh37]
Chr12:79184516..84171464 [NCBI36]
Chr12:12q21.31		 pathogenic
GRCh38/hg38 12q21.2-21.31(chr12:77564757-85370822)x3 copy number gain See cases [RCV000053684] Chr12:77564757..85370822 [GRCh38]
Chr12:77958537..85764600 [GRCh37]
Chr12:76482668..84288731 [NCBI36]
Chr12:12q21.2-21.31		 pathogenic
NM_001220473.2(PPFIA2):c.646-3359T>A single nucleotide variant Lung cancer [RCV000111351] Chr12:81409262 [GRCh38]
Chr12:81803041 [GRCh37]
Chr12:12q21.31		 uncertain significance
NM_001220473.2(PPFIA2):c.645+12710G>A single nucleotide variant Lung cancer [RCV000111352] Chr12:81427262 [GRCh38]
Chr12:81821041 [GRCh37]
Chr12:12q21.31		 uncertain significance
NM_001220473.2(PPFIA2):c.304-30855T>C single nucleotide variant Lung cancer [RCV000111354] Chr12:81488721 [GRCh38]
Chr12:81882500 [GRCh37]
Chr12:12q21.31		 uncertain significance
NM_001220473.2(PPFIA2):c.304-85378G>T single nucleotide variant Lung cancer [RCV000111356] Chr12:81543244 [GRCh38]
Chr12:81937023 [GRCh37]
Chr12:12q21.31		 uncertain significance
NM_001220473.2(PPFIA2):c.304-87985C>A single nucleotide variant Lung cancer [RCV000111357] Chr12:81545851 [GRCh38]
Chr12:81939630 [GRCh37]
Chr12:12q21.31		 uncertain significance
NM_001220473.2(PPFIA2):c.303+5978A>G single nucleotide variant Lung cancer [RCV000111359] Chr12:81670813 [GRCh38]
Chr12:82064592 [GRCh37]
Chr12:12q21.31		 uncertain significance
NM_001220473.2(PPFIA2):c.250-5582T>C single nucleotide variant Lung cancer [RCV000111360] Chr12:81682426 [GRCh38]
Chr12:82076205 [GRCh37]
Chr12:12q21.31		 uncertain significance
NM_001220473.2(PPFIA2):c.3310+2456C>A single nucleotide variant Lung cancer [RCV000111350] Chr12:81274861 [GRCh38]
Chr12:81668640 [GRCh37]
Chr12:12q21.31		 uncertain significance
NM_001220473.2(PPFIA2):c.645+4049T>C single nucleotide variant Lung cancer [RCV000111353] Chr12:81435923 [GRCh38]
Chr12:81829702 [GRCh37]
Chr12:12q21.31		 uncertain significance
NM_001220473.2(PPFIA2):c.303+98266C>A single nucleotide variant Lung cancer [RCV000111358] Chr12:81578525 [GRCh38]
Chr12:81972304 [GRCh37]
Chr12:12q21.31		 uncertain significance
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33		 pathogenic
GRCh38/hg38 12q21.2-21.31(chr12:76566873-82021089)x1 copy number loss See cases [RCV000141023] Chr12:76566873..82021089 [GRCh38]
Chr12:76960653..82414868 [GRCh37]
Chr12:75484784..80938999 [NCBI36]
Chr12:12q21.2-21.31		 likely pathogenic
GRCh38/hg38 12q21.1-22(chr12:73485697-92795805)x1 copy number loss See cases [RCV000143099] Chr12:73485697..92795805 [GRCh38]
Chr12:73879477..93189581 [GRCh37]
Chr12:72165744..91713712 [NCBI36]
Chr12:12q21.1-22		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic|likely pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
NM_003625.5(PPFIA2):c.1802A>C (p.Asn601Thr) single nucleotide variant Inborn genetic diseases [RCV003285022] Chr12:81353311 [GRCh38]
Chr12:81747090 [GRCh37]
Chr12:12q21.31		 uncertain significance
NM_003625.5(PPFIA2):c.2563A>G (p.Thr855Ala) single nucleotide variant Inborn genetic diseases [RCV003257197] Chr12:81325856 [GRCh38]
Chr12:81719635 [GRCh37]
Chr12:12q21.31		 uncertain significance
NM_003625.5(PPFIA2):c.1808C>T (p.Thr603Ile) single nucleotide variant Inborn genetic diseases [RCV003277097] Chr12:81353305 [GRCh38]
Chr12:81747084 [GRCh37]
Chr12:12q21.31		 uncertain significance
GRCh37/hg19 12q21.31(chr12:81666797-82808748)x3 copy number gain not provided [RCV000683459] Chr12:81666797..82808748 [GRCh37]
Chr12:12q21.31		 uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12q15-21.33(chr12:69608090-89629345)x1 copy number loss not provided [RCV000737927] Chr12:69608090..89629345 [GRCh37]
Chr12:12q15-21.33		 pathogenic
GRCh37/hg19 12q21.31(chr12:82139772-82158129)x1 copy number loss not provided [RCV000737958] Chr12:82139772..82158129 [GRCh37]
Chr12:12q21.31		 benign
NM_003625.5(PPFIA2):c.1374T>C (p.Asn458=) single nucleotide variant not provided [RCV000940489] Chr12:81368833 [GRCh38]
Chr12:81762612 [GRCh37]
Chr12:12q21.31		 likely benign
NM_003625.5(PPFIA2):c.3355G>A (p.Ala1119Thr) single nucleotide variant not provided [RCV000972854] Chr12:81268043 [GRCh38]
Chr12:81661822 [GRCh37]
Chr12:12q21.31		 benign
NM_003625.5(PPFIA2):c.2082T>C (p.Asn694=) single nucleotide variant not provided [RCV000972855] Chr12:81347683 [GRCh38]
Chr12:81741462 [GRCh37]
Chr12:12q21.31		 benign
NM_003625.5(PPFIA2):c.465G>A (p.Thr155=) single nucleotide variant not provided [RCV000922575] Chr12:81445661 [GRCh38]
Chr12:81839440 [GRCh37]
Chr12:12q21.31		 likely benign
GRCh37/hg19 12q21.31(chr12:81643220-81734161)x1 copy number loss not provided [RCV000846607] Chr12:81643220..81734161 [GRCh37]
Chr12:12q21.31		 uncertain significance
GRCh37/hg19 12q21.31(chr12:82093845-82205711)x1 copy number loss not provided [RCV000845947] Chr12:82093845..82205711 [GRCh37]
Chr12:12q21.31		 uncertain significance
GRCh37/hg19 12q21.31(chr12:81327644-82029969)x1 copy number loss not provided [RCV000849716] Chr12:81327644..82029969 [GRCh37]
Chr12:12q21.31		 uncertain significance
NM_003625.5(PPFIA2):c.929A>G (p.Lys310Arg) single nucleotide variant not provided [RCV000981537] Chr12:81384078 [GRCh38]
Chr12:81777857 [GRCh37]
Chr12:12q21.31		 likely benign
GRCh37/hg19 12q21.2-22(chr12:77737623-94330526)x1 copy number loss not provided [RCV000848027] Chr12:77737623..94330526 [GRCh37]
Chr12:12q21.2-22		 pathogenic
GRCh37/hg19 12q21.31(chr12:81733516-81785112)x3 copy number gain not provided [RCV000849412] Chr12:81733516..81785112 [GRCh37]
Chr12:12q21.31		 uncertain significance
NM_003625.5(PPFIA2):c.933T>A (p.Asp311Glu) single nucleotide variant Inborn genetic diseases [RCV003250954] Chr12:81384074 [GRCh38]
Chr12:81777853 [GRCh37]
Chr12:12q21.31		 uncertain significance
NM_003625.5(PPFIA2):c.2725-8_2725-5del deletion not provided [RCV000974319] Chr12:81295040..81295043 [GRCh38]
Chr12:81688819..81688822 [GRCh37]
Chr12:12q21.31		 benign
GRCh37/hg19 12q21.2-21.31(chr12:79302790-82128250)x1 copy number loss not provided [RCV001006516] Chr12:79302790..82128250 [GRCh37]
Chr12:12q21.2-21.31		 uncertain significance
NM_003625.5(PPFIA2):c.781A>G (p.Ile261Val) single nucleotide variant not provided [RCV001325876] Chr12:81384226 [GRCh38]
Chr12:81778005 [GRCh37]
Chr12:12q21.31		 uncertain significance
NM_003625.5(PPFIA2):c.2267C>A (p.Ala756Glu) single nucleotide variant Inborn genetic diseases [RCV003276968] Chr12:81341204 [GRCh38]
Chr12:81734983 [GRCh37]
Chr12:12q21.31		 uncertain significance
NM_003625.5(PPFIA2):c.1881C>A (p.Asp627Glu) single nucleotide variant Inborn genetic diseases [RCV002686598] Chr12:81353232 [GRCh38]
Chr12:81747011 [GRCh37]
Chr12:12q21.31		 uncertain significance
NM_003625.5(PPFIA2):c.130C>T (p.Arg44Cys) single nucleotide variant Inborn genetic diseases [RCV002754146] Chr12:81754092 [GRCh38]
Chr12:82147871 [GRCh37]
Chr12:12q21.31		 uncertain significance
NM_003625.5(PPFIA2):c.910G>A (p.Glu304Lys) single nucleotide variant Inborn genetic diseases [RCV002863939] Chr12:81384097 [GRCh38]
Chr12:81777876 [GRCh37]
Chr12:12q21.31		 uncertain significance
NM_003625.5(PPFIA2):c.1298G>A (p.Arg433His) single nucleotide variant Inborn genetic diseases [RCV002773141] Chr12:81369163 [GRCh38]
Chr12:81762942 [GRCh37]
Chr12:12q21.31		 uncertain significance
NM_003625.5(PPFIA2):c.1837C>G (p.Pro613Ala) single nucleotide variant Inborn genetic diseases [RCV002772250] Chr12:81353276 [GRCh38]
Chr12:81747055 [GRCh37]
Chr12:12q21.31		 uncertain significance
NM_003625.5(PPFIA2):c.3282A>C (p.Arg1094Ser) single nucleotide variant Inborn genetic diseases [RCV002821312] Chr12:81277345 [GRCh38]
Chr12:81671124 [GRCh37]
Chr12:12q21.31		 uncertain significance
NM_003625.5(PPFIA2):c.2434G>C (p.Gly812Arg) single nucleotide variant Inborn genetic diseases [RCV002713641] Chr12:81339294 [GRCh38]
Chr12:81733073 [GRCh37]
Chr12:12q21.31		 uncertain significance
NM_003625.5(PPFIA2):c.703G>A (p.Gly235Arg) single nucleotide variant Inborn genetic diseases [RCV002919317] Chr12:81405846 [GRCh38]
Chr12:81799625 [GRCh37]
Chr12:12q21.31		 uncertain significance
NM_003625.5(PPFIA2):c.890G>A (p.Arg297Gln) single nucleotide variant Inborn genetic diseases [RCV002804765] Chr12:81384117 [GRCh38]
Chr12:81777896 [GRCh37]
Chr12:12q21.31		 uncertain significance
NM_003625.5(PPFIA2):c.3514A>G (p.Asn1172Asp) single nucleotide variant Inborn genetic diseases [RCV002916405] Chr12:81266993 [GRCh38]
Chr12:81660772 [GRCh37]
Chr12:12q21.31		 uncertain significance
NM_003625.5(PPFIA2):c.3677C>A (p.Thr1226Asn) single nucleotide variant Inborn genetic diseases [RCV002901009] Chr12:81263269 [GRCh38]
Chr12:81657048 [GRCh37]
Chr12:12q21.31		 uncertain significance
NM_003625.5(PPFIA2):c.1562A>G (p.Glu521Gly) single nucleotide variant Inborn genetic diseases [RCV002813756] Chr12:81362768 [GRCh38]
Chr12:81756547 [GRCh37]
Chr12:12q21.31		 uncertain significance
NM_003625.5(PPFIA2):c.266C>G (p.Thr89Arg) single nucleotide variant Inborn genetic diseases [RCV002941612] Chr12:81676828 [GRCh38]
Chr12:82070607 [GRCh37]
Chr12:12q21.31		 uncertain significance
NM_003625.5(PPFIA2):c.143C>G (p.Thr48Ser) single nucleotide variant Inborn genetic diseases [RCV002987893] Chr12:81754079 [GRCh38]
Chr12:82147858 [GRCh37]
Chr12:12q21.31		 uncertain significance
NM_003625.5(PPFIA2):c.215C>T (p.Ser72Leu) single nucleotide variant Inborn genetic diseases [RCV002747136] Chr12:81754007 [GRCh38]
Chr12:82147786 [GRCh37]
Chr12:12q21.31		 uncertain significance
NM_003625.5(PPFIA2):c.1889C>T (p.Thr630Ile) single nucleotide variant Inborn genetic diseases [RCV002655792] Chr12:81353224 [GRCh38]
Chr12:81747003 [GRCh37]
Chr12:12q21.31		 uncertain significance
NM_003625.5(PPFIA2):c.40C>G (p.Pro14Ala) single nucleotide variant Inborn genetic diseases [RCV003205410] Chr12:81754182 [GRCh38]
Chr12:82147961 [GRCh37]
Chr12:12q21.31		 uncertain significance
NM_003625.5(PPFIA2):c.1573C>G (p.Leu525Val) single nucleotide variant Inborn genetic diseases [RCV003174800] Chr12:81362757 [GRCh38]
Chr12:81756536 [GRCh37]
Chr12:12q21.31		 uncertain significance
NM_003625.5(PPFIA2):c.2381A>G (p.Asn794Ser) single nucleotide variant Inborn genetic diseases [RCV003190694] Chr12:81341090 [GRCh38]
Chr12:81734869 [GRCh37]
Chr12:12q21.31		 uncertain significance
NM_003625.5(PPFIA2):c.743G>T (p.Gly248Val) single nucleotide variant Inborn genetic diseases [RCV003209714] Chr12:81405806 [GRCh38]
Chr12:81799585 [GRCh37]
Chr12:12q21.31		 uncertain significance
NM_003625.5(PPFIA2):c.2217G>A (p.Met739Ile) single nucleotide variant Inborn genetic diseases [RCV003186246] Chr12:81347548 [GRCh38]
Chr12:81741327 [GRCh37]
Chr12:12q21.31		 uncertain significance
NM_003625.5(PPFIA2):c.55G>C (p.Gly19Arg) single nucleotide variant Inborn genetic diseases [RCV003345691] Chr12:81754167 [GRCh38]
Chr12:82147946 [GRCh37]
Chr12:12q21.31		 uncertain significance
NM_003625.5(PPFIA2):c.3472A>G (p.Thr1158Ala) single nucleotide variant Inborn genetic diseases [RCV003384049] Chr12:81267926 [GRCh38]
Chr12:81661705 [GRCh37]
Chr12:12q21.31		 uncertain significance
NM_003625.5(PPFIA2):c.2534G>A (p.Arg845Gln) single nucleotide variant Inborn genetic diseases [RCV003350246] Chr12:81339194 [GRCh38]
Chr12:81732973 [GRCh37]
Chr12:12q21.31		 uncertain significance
GRCh37/hg19 12q21.31(chr12:80647969-85713707)x1 copy number loss not provided [RCV003483158] Chr12:80647969..85713707 [GRCh37]
Chr12:12q21.31		 uncertain significance
NM_003625.5(PPFIA2):c.256G>A (p.Glu86Lys) single nucleotide variant not provided [RCV003398204] Chr12:81676838 [GRCh38]
Chr12:82070617 [GRCh37]
Chr12:12q21.31		 uncertain significance
NM_003625.5(PPFIA2):c.2604C>T (p.Leu868=) single nucleotide variant not provided [RCV003398202] Chr12:81325815 [GRCh38]
Chr12:81719594 [GRCh37]
Chr12:12q21.31		 likely benign
NM_003625.5(PPFIA2):c.1267-8del deletion not provided [RCV003398203] Chr12:81369202 [GRCh38]
Chr12:81762981 [GRCh37]
Chr12:12q21.31		 benign
GRCh37/hg19 12q21.1-21.33(chr12:74887087-90469800)x1 copy number loss not specified [RCV003986972] Chr12:74887087..90469800 [GRCh37]
Chr12:12q21.1-21.33		 pathogenic
GRCh37/hg19 12q21.1-21.31(chr12:73466055-82398026)x1 copy number loss not specified [RCV003986983] Chr12:73466055..82398026 [GRCh37]
Chr12:12q21.1-21.31		 uncertain significance
GRCh37/hg19 12q21.31(chr12:82070570-82070623)x1 copy number loss not provided [RCV003887786] Chr12:82070570..82070623 [GRCh37]
Chr12:12q21.31		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5101
Count of miRNA genes:1273
Interacting mature miRNAs:1663
Transcripts:ENST00000333447, ENST00000407050, ENST00000443686, ENST00000541017, ENST00000541570, ENST00000545296, ENST00000547180, ENST00000547273, ENST00000547623, ENST00000548453, ENST00000548586, ENST00000548670, ENST00000548790, ENST00000549325, ENST00000549344, ENST00000549396, ENST00000549917, ENST00000550018, ENST00000550359, ENST00000550584, ENST00000550798, ENST00000551147, ENST00000551442, ENST00000551461, ENST00000552006, ENST00000552020, ENST00000552948, ENST00000553058
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
D12S106  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371282,029,656 - 82,029,866UniSTSGRCh37
GRCh371282,029,569 - 82,029,799UniSTSGRCh37
Build 361280,553,787 - 80,553,997RGDNCBI36
Celera1281,697,422 - 81,697,632RGD
Celera1281,697,335 - 81,697,565UniSTS
Cytogenetic Map12q21.31UniSTS
HuRef1279,086,202 - 79,086,412UniSTS
HuRef1279,086,115 - 79,086,345UniSTS
Marshfield Genetic Map1290.77UniSTS
Marshfield Genetic Map1290.77RGD
Genethon Genetic Map1292.5UniSTS
TNG Radiation Hybrid Map1236931.0UniSTS
deCODE Assembly Map1295.7UniSTS
Stanford-G3 RH Map123269.0UniSTS
GeneMap99-GB4 RH Map12328.8UniSTS
Whitehead-RH Map12429.4UniSTS
Whitehead-YAC Contig Map12 UniSTS
NCBI RH Map12573.6UniSTS
GeneMap99-G3 RH Map123215.0UniSTS
SHGC-30797  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371281,795,756 - 81,795,881UniSTSGRCh37
Build 361280,319,887 - 80,320,012RGDNCBI36
Celera1281,463,567 - 81,463,692RGD
Cytogenetic Map12q21.31UniSTS
HuRef1278,852,500 - 78,852,625UniSTS
Stanford-G3 RH Map123290.0UniSTS
GeneMap99-GB4 RH Map12325.42UniSTS
Whitehead-RH Map12427.7UniSTS
NCBI RH Map12573.6UniSTS
GeneMap99-G3 RH Map123236.0UniSTS
SHGC-37423  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371281,918,709 - 81,918,846UniSTSGRCh37
Build 361280,442,840 - 80,442,977RGDNCBI36
Celera1281,586,503 - 81,586,640RGD
Cytogenetic Map12q21.31UniSTS
HuRef1278,975,209 - 78,975,346UniSTS
Stanford-G3 RH Map123284.0UniSTS
NCBI RH Map12571.3UniSTS
GeneMap99-G3 RH Map123230.0UniSTS
RH91097  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371281,652,644 - 81,652,784UniSTSGRCh37
Build 361280,176,775 - 80,176,915RGDNCBI36
Celera1281,320,499 - 81,320,639RGD
Cytogenetic Map12q21.31UniSTS
HuRef1278,709,410 - 78,709,550UniSTS
GeneMap99-GB4 RH Map12348.37UniSTS
RH103805  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371281,652,059 - 81,652,236UniSTSGRCh37
Build 361280,176,190 - 80,176,367RGDNCBI36
Celera1281,319,914 - 81,320,091RGD
Cytogenetic Map12q21.31UniSTS
HuRef1278,708,825 - 78,709,002UniSTS
GeneMap99-GB4 RH Map12349.76UniSTS
SHGC-81616  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371282,090,560 - 82,090,861UniSTSGRCh37
Build 361280,614,691 - 80,614,992RGDNCBI36
Celera1281,758,344 - 81,758,645RGD
Cytogenetic Map12q21.31UniSTS
HuRef1279,147,224 - 79,147,525UniSTS
TNG Radiation Hybrid Map1236960.0UniSTS
SHGC-84675  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371281,858,803 - 81,859,075UniSTSGRCh37
Build 361280,382,934 - 80,383,206RGDNCBI36
Celera1281,526,613 - 81,526,885RGD
Cytogenetic Map12q21.31UniSTS
HuRef1278,915,526 - 78,915,798UniSTS
TNG Radiation Hybrid Map1238449.0UniSTS
RH120701  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371282,151,120 - 82,151,458UniSTSGRCh37
Build 361280,675,251 - 80,675,589RGDNCBI36
Celera1281,818,900 - 81,819,238RGD
Cytogenetic Map12q21.31UniSTS
HuRef1279,207,779 - 79,208,117UniSTS
TNG Radiation Hybrid Map1236994.0UniSTS
RH121155  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371281,849,840 - 81,850,129UniSTSGRCh37
Build 361280,373,971 - 80,374,260RGDNCBI36
Celera1281,517,656 - 81,517,945RGD
Cytogenetic Map12q21.31UniSTS
HuRef1278,906,569 - 78,906,858UniSTS
TNG Radiation Hybrid Map1238458.0UniSTS
G59128  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371282,039,495 - 82,039,801UniSTSGRCh37
Build 361280,563,626 - 80,563,932RGDNCBI36
Celera1281,707,276 - 81,707,582RGD
Cytogenetic Map12q21.31UniSTS
HuRef1279,096,156 - 79,096,462UniSTS
TNG Radiation Hybrid Map1236942.0UniSTS
D12S1525E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371282,039,317 - 82,039,393UniSTSGRCh37
Build 361280,563,448 - 80,563,524RGDNCBI36
Celera1281,707,098 - 81,707,174RGD
Cytogenetic Map12q21.31UniSTS
HuRef1279,095,978 - 79,096,054UniSTS
D12S1434  
Human AssemblyChrPosition (strand)SourceJBrowse
Celera1281,406,319 - 81,406,568RGD
Cytogenetic Map12q21.31UniSTS
HuRef1278,795,235 - 78,795,484UniSTS
Whitehead-RH Map12426.2UniSTS
Whitehead-YAC Contig Map12 UniSTS
NCBI RH Map12573.6UniSTS
RH11321  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371282,050,178 - 82,050,372UniSTSGRCh37
Build 361280,574,309 - 80,574,503RGDNCBI36
Celera1281,717,956 - 81,718,150RGD
Cytogenetic Map12q21.31UniSTS
HuRef1279,106,836 - 79,107,030UniSTS
GeneMap99-GB4 RH Map12326.77UniSTS
NCBI RH Map12573.6UniSTS
SHGC-44255  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371281,654,735 - 81,654,858UniSTSGRCh37
Build 361280,178,866 - 80,178,989RGDNCBI36
Celera1281,322,590 - 81,322,709RGD
Cytogenetic Map12q21.31UniSTS
HuRef1278,711,501 - 78,711,620UniSTS
TNG Radiation Hybrid Map1238604.0UniSTS
SHGC-153422  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371282,028,564 - 82,028,842UniSTSGRCh37
Build 361280,552,695 - 80,552,973RGDNCBI36
Celera1281,696,330 - 81,696,608RGD
Cytogenetic Map12q21.31UniSTS
HuRef1279,085,110 - 79,085,388UniSTS
TNG Radiation Hybrid Map1236921.0UniSTS
SHGC-143022  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371281,691,090 - 81,691,217UniSTSGRCh37
Build 361280,215,221 - 80,215,348RGDNCBI36
Celera1281,358,942 - 81,359,069RGD
Cytogenetic Map12q21.31UniSTS
HuRef1278,747,860 - 78,747,987UniSTS
TNG Radiation Hybrid Map1238649.0UniSTS
G31137  
Human AssemblyChrPosition (strand)SourceJBrowse
Celera1281,322,623 - 81,322,718RGD
Cytogenetic Map12q21.31UniSTS
HuRef1278,711,534 - 78,711,629UniSTS
AB055332  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371281,975,005 - 81,975,188UniSTSGRCh37
Build 361280,499,136 - 80,499,319RGDNCBI36
Celera1281,642,787 - 81,642,970RGD
HuRef1279,031,489 - 79,031,672UniSTS
SHGC-36062  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371281,930,647 - 81,930,758UniSTSGRCh37
Build 361280,454,778 - 80,454,889RGDNCBI36
Celera1281,598,429 - 81,598,540RGD
Cytogenetic Map12q21.31UniSTS
HuRef1278,987,129 - 78,987,240UniSTS
TNG Radiation Hybrid Map1238426.0UniSTS
Stanford-G3 RH Map123302.0UniSTS
NCBI RH Map12574.4UniSTS
GeneMap99-G3 RH Map123248.0UniSTS
RH11207  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371282,049,234 - 82,049,344UniSTSGRCh37
Build 361280,573,365 - 80,573,475RGDNCBI36
Celera1281,717,012 - 81,717,122RGD
Cytogenetic Map12q21.31UniSTS
HuRef1279,105,892 - 79,106,002UniSTS
GeneMap99-GB4 RH Map12346.59UniSTS
1804  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371281,704,181 - 81,704,259UniSTSGRCh37
Build 361280,228,312 - 80,228,390RGDNCBI36
Celera1281,372,032 - 81,372,110RGD
Cytogenetic Map12q21.31UniSTS
HuRef1278,760,948 - 78,761,026UniSTS
GeneMap99-GB4 RH Map12322.17UniSTS
NCBI RH Map12573.6UniSTS
D12S106  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map12q21.31UniSTS
TNG Radiation Hybrid Map1236931.0UniSTS
Stanford-G3 RH Map123269.0UniSTS
NCBI RH Map12566.3UniSTS
GeneMap99-G3 RH Map123215.0UniSTS


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
High
Medium 46 14 1 1 34 894 53 24 34
Low 901 1333 903 98 89 59 2204 425 2790 219 1086 902 42 1 953 1493
Below cutoff 1413 1150 761 489 788 366 2049 1731 35 161 226 569 123 251 1251

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001220473 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001220474 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001220475 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001220476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001220477 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001220478 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001220479 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001220480 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001282536 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011538906 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011538907 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020091 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020102 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020103 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020118 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449241 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449242 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449243 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449244 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429770 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429771 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429772 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429773 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429774 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429776 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429778 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429782 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429784 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429785 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429786 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429787 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429788 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429790 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429792 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429793 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429794 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429795 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429796 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373648 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373649 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373650 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373651 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373652 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373654 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373655 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373656 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373657 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373658 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373659 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373662 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373664 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373665 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373669 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373670 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373671 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373672 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373673 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373674 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373675 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373676 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373678 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373679 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373680 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373681 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373682 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373684 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB210009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC011316 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC069228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC078920 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC079363 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC079408 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF034799 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123372 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK126971 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294505 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296380 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297372 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299853 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302658 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307524 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL157453 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL713132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW014561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW304872 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC104912 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143485 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM661844 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM689808 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ027545 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU568524 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB051855 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA329958 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA368637 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA499362 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA533482 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA687865 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB083201 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC321269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC322478 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EL947964 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000333447   ⟹   ENSP00000327416
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1281,257,975 - 81,598,371 (-)Ensembl
RefSeq Acc Id: ENST00000407050   ⟹   ENSP00000385093
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1281,259,601 - 81,598,371 (-)Ensembl
RefSeq Acc Id: ENST00000443686   ⟹   ENSP00000388373
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1281,261,967 - 81,598,340 (-)Ensembl
RefSeq Acc Id: ENST00000541017   ⟹   ENSP00000445532
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1281,257,975 - 81,369,414 (-)Ensembl
RefSeq Acc Id: ENST00000541570   ⟹   ENSP00000438337
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1281,259,166 - 81,369,414 (-)Ensembl
RefSeq Acc Id: ENST00000545296
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1281,259,101 - 81,598,256 (-)Ensembl
RefSeq Acc Id: ENST00000547180
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1281,294,582 - 81,299,331 (-)Ensembl
RefSeq Acc Id: ENST00000547273
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1281,675,486 - 81,687,560 (-)Ensembl
RefSeq Acc Id: ENST00000547623   ⟹   ENSP00000447918
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1281,457,806 - 81,759,313 (-)Ensembl
RefSeq Acc Id: ENST00000548453
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1281,424,849 - 81,512,384 (-)Ensembl
RefSeq Acc Id: ENST00000548586   ⟹   ENSP00000449338
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1281,261,961 - 81,758,653 (-)Ensembl
RefSeq Acc Id: ENST00000548670   ⟹   ENSP00000447792
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1281,358,183 - 81,369,405 (-)Ensembl
RefSeq Acc Id: ENST00000548790   ⟹   ENSP00000446555
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1281,369,125 - 81,445,578 (-)Ensembl
RefSeq Acc Id: ENST00000549325   ⟹   ENSP00000450298
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1281,258,877 - 81,758,670 (-)Ensembl
RefSeq Acc Id: ENST00000549344
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1281,339,188 - 81,344,768 (-)Ensembl
RefSeq Acc Id: ENST00000549396   ⟹   ENSP00000450337
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1281,257,975 - 81,759,350 (-)Ensembl
RefSeq Acc Id: ENST00000549917
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1281,339,210 - 81,350,486 (-)Ensembl
RefSeq Acc Id: ENST00000550018   ⟹   ENSP00000447189
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1281,277,372 - 81,325,810 (-)Ensembl
RefSeq Acc Id: ENST00000550359   ⟹   ENSP00000447273
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1281,259,436 - 81,512,362 (-)Ensembl
RefSeq Acc Id: ENST00000550584   ⟹   ENSP00000449558
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1281,258,267 - 81,758,693 (-)Ensembl
RefSeq Acc Id: ENST00000550798
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1281,676,657 - 81,759,314 (-)Ensembl
RefSeq Acc Id: ENST00000551147   ⟹   ENSP00000449524
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1281,281,338 - 81,339,214 (-)Ensembl
RefSeq Acc Id: ENST00000551442   ⟹   ENSP00000449469
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1281,445,631 - 81,759,553 (-)Ensembl
RefSeq Acc Id: ENST00000551461   ⟹   ENSP00000449821
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1281,259,268 - 81,369,349 (-)Ensembl
RefSeq Acc Id: ENST00000552006
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1281,505,680 - 81,512,345 (-)Ensembl
RefSeq Acc Id: ENST00000552020
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1281,439,880 - 81,676,847 (-)Ensembl
RefSeq Acc Id: ENST00000552948   ⟹   ENSP00000447868
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1281,261,967 - 81,758,647 (-)Ensembl
RefSeq Acc Id: ENST00000553058   ⟹   ENSP00000448941
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1281,347,712 - 81,369,423 (-)Ensembl
RefSeq Acc Id: NM_001220473   ⟹   NP_001207402
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381281,257,975 - 81,758,655 (-)NCBI
GRCh371281,652,045 - 82,153,109 (-)ENTREZGENE
HuRef1278,708,520 - 79,209,133 (-)NCBI
CHM1_11281,618,230 - 82,118,819 (-)NCBI
T2T-CHM13v2.01281,236,956 - 81,737,717 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001220474   ⟹   NP_001207403
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381281,257,975 - 81,758,655 (-)NCBI
GRCh371281,652,045 - 82,153,109 (-)ENTREZGENE
HuRef1278,708,520 - 79,209,133 (-)NCBI
CHM1_11281,618,230 - 82,118,819 (-)NCBI
T2T-CHM13v2.01281,236,956 - 81,737,717 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001220475   ⟹   NP_001207404
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381281,257,975 - 81,758,507 (-)NCBI
GRCh371281,652,045 - 82,153,109 (-)ENTREZGENE
HuRef1278,708,520 - 79,209,133 (-)NCBI
CHM1_11281,618,230 - 82,118,631 (-)NCBI
T2T-CHM13v2.01281,236,956 - 81,737,569 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001220476   ⟹   NP_001207405
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381281,257,975 - 81,758,507 (-)NCBI
GRCh371281,652,045 - 82,153,109 (-)ENTREZGENE
HuRef1278,708,520 - 79,209,133 (-)NCBI
CHM1_11281,618,230 - 82,118,631 (-)NCBI
T2T-CHM13v2.01281,236,956 - 81,737,569 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001220477   ⟹   NP_001207406
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381281,257,975 - 81,598,371 (-)NCBI
GRCh371281,652,045 - 82,153,109 (-)ENTREZGENE
HuRef1278,708,520 - 79,209,133 (-)NCBI
CHM1_11281,618,230 - 81,958,533 (-)NCBI
T2T-CHM13v2.01281,236,956 - 81,577,362 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001220478   ⟹   NP_001207407
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381281,257,975 - 81,598,371 (-)NCBI
GRCh371281,652,045 - 82,153,109 (-)ENTREZGENE
HuRef1278,708,520 - 79,209,133 (-)NCBI
CHM1_11281,618,230 - 81,958,533 (-)NCBI
T2T-CHM13v2.01281,236,956 - 81,577,362 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001220479   ⟹   NP_001207408
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381281,257,975 - 81,369,369 (-)NCBI
GRCh371281,652,045 - 82,153,109 (-)ENTREZGENE
HuRef1278,708,520 - 79,209,133 (-)NCBI
CHM1_11281,618,230 - 81,729,677 (-)NCBI
T2T-CHM13v2.01281,236,956 - 81,348,345 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001220480   ⟹   NP_001207409
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381281,257,975 - 81,369,369 (-)NCBI
GRCh371281,652,045 - 82,153,109 (-)ENTREZGENE
HuRef1278,708,520 - 79,209,133 (-)NCBI
CHM1_11281,618,230 - 81,729,677 (-)NCBI
T2T-CHM13v2.01281,236,956 - 81,348,345 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001282536   ⟹   NP_001269465
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381281,257,975 - 81,512,391 (-)NCBI
HuRef1278,708,520 - 79,209,133 (-)NCBI
CHM1_11281,618,230 - 81,872,549 (-)NCBI
T2T-CHM13v2.01281,236,956 - 81,491,333 (-)NCBI
Sequence:
RefSeq Acc Id: NM_003625   ⟹   NP_003616
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381281,257,975 - 81,759,350 (-)NCBI
GRCh371281,652,045 - 82,153,109 (-)ENTREZGENE
Build 361280,177,487 - 80,677,240 (-)NCBI Archive
Celera1281,321,211 - 81,820,889 (-)RGD
HuRef1278,708,520 - 79,209,133 (-)NCBI
CHM1_11281,618,230 - 82,119,470 (-)NCBI
T2T-CHM13v2.01281,236,956 - 81,738,412 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017020086   ⟹   XP_016875575
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381281,257,975 - 81,759,350 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017020088   ⟹   XP_016875577
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381281,261,952 - 81,759,350 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017020090   ⟹   XP_016875579
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381281,257,975 - 81,759,350 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017020094   ⟹   XP_016875583
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381281,261,952 - 81,759,350 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017020099   ⟹   XP_016875588
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381281,257,975 - 81,758,655 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017020103   ⟹   XP_016875592
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381281,257,975 - 81,758,655 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017020105   ⟹   XP_016875594
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381281,257,975 - 81,758,655 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017020107   ⟹   XP_016875596
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381281,257,975 - 81,759,350 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017020108   ⟹   XP_016875597
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381281,257,975 - 81,759,350 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017020118   ⟹   XP_016875607
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381281,261,952 - 81,598,371 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024449240   ⟹   XP_024305008
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381281,257,975 - 81,759,350 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024449241   ⟹   XP_024305009
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381281,261,952 - 81,759,350 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024449242   ⟹   XP_024305010
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381281,257,975 - 81,759,350 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024449244   ⟹   XP_024305012
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381281,304,797 - 81,759,350 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024449245   ⟹   XP_024305013
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381281,261,952 - 81,369,887 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047429770   ⟹   XP_047285726
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381281,261,952 - 81,759,350 (-)NCBI
RefSeq Acc Id: XM_047429771   ⟹   XP_047285727
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381281,261,952 - 81,758,655 (-)NCBI
RefSeq Acc Id: XM_047429772   ⟹   XP_047285728
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381281,261,952 - 81,758,655 (-)NCBI
RefSeq Acc Id: XM_047429773   ⟹   XP_047285729
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381281,261,952 - 81,759,350 (-)NCBI
RefSeq Acc Id: XM_047429774   ⟹   XP_047285730
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381281,261,952 - 81,759,350 (-)NCBI
RefSeq Acc Id: XM_047429775   ⟹   XP_047285731
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381281,257,975 - 81,759,350 (-)NCBI
RefSeq Acc Id: XM_047429776   ⟹   XP_047285732
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381281,261,952 - 81,759,350 (-)NCBI
RefSeq Acc Id: XM_047429777   ⟹   XP_047285733
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381281,261,952 - 81,759,350 (-)NCBI
RefSeq Acc Id: XM_047429778   ⟹   XP_047285734
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381281,257,975 - 81,759,350 (-)NCBI
RefSeq Acc Id: XM_047429780   ⟹   XP_047285736
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381281,261,952 - 81,758,655 (-)NCBI
RefSeq Acc Id: XM_047429781   ⟹   XP_047285737
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381281,257,975 - 81,759,350 (-)NCBI
RefSeq Acc Id: XM_047429782   ⟹   XP_047285738
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381281,261,952 - 81,759,350 (-)NCBI
RefSeq Acc Id: XM_047429783   ⟹   XP_047285739
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381281,261,952 - 81,759,350 (-)NCBI
RefSeq Acc Id: XM_047429784   ⟹   XP_047285740
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381281,261,952 - 81,759,350 (-)NCBI
RefSeq Acc Id: XM_047429785   ⟹   XP_047285741
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381281,261,952 - 81,759,350 (-)NCBI
RefSeq Acc Id: XM_047429786   ⟹   XP_047285742
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381281,257,975 - 81,759,350 (-)NCBI
RefSeq Acc Id: XM_047429787   ⟹   XP_047285743
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381281,261,952 - 81,759,350 (-)NCBI
RefSeq Acc Id: XM_047429788   ⟹   XP_047285744
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381281,261,952 - 81,759,350 (-)NCBI
RefSeq Acc Id: XM_047429789   ⟹   XP_047285745
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381281,261,952 - 81,759,350 (-)NCBI
RefSeq Acc Id: XM_047429790   ⟹   XP_047285746
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381281,261,952 - 81,759,350 (-)NCBI
RefSeq Acc Id: XM_047429791   ⟹   XP_047285747
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381281,257,975 - 81,758,655 (-)NCBI
RefSeq Acc Id: XM_047429792   ⟹   XP_047285748
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381281,261,952 - 81,512,391 (-)NCBI
RefSeq Acc Id: XM_047429793   ⟹   XP_047285749
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381281,261,952 - 81,512,391 (-)NCBI
RefSeq Acc Id: XM_047429794   ⟹   XP_047285750
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381281,261,952 - 81,512,391 (-)NCBI
RefSeq Acc Id: XM_047429795   ⟹   XP_047285751
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381281,261,952 - 81,758,655 (-)NCBI
RefSeq Acc Id: XM_047429796   ⟹   XP_047285752
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381281,261,952 - 81,758,655 (-)NCBI
RefSeq Acc Id: XM_054373648   ⟹   XP_054229623
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01281,240,929 - 81,738,412 (-)NCBI
RefSeq Acc Id: XM_054373649   ⟹   XP_054229624
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01281,240,929 - 81,737,717 (-)NCBI
RefSeq Acc Id: XM_054373650   ⟹   XP_054229625
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01281,240,929 - 81,737,717 (-)NCBI
RefSeq Acc Id: XM_054373651   ⟹   XP_054229626
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01281,240,929 - 81,738,412 (-)NCBI
RefSeq Acc Id: XM_054373652   ⟹   XP_054229627
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01281,240,929 - 81,738,412 (-)NCBI
RefSeq Acc Id: XM_054373653   ⟹   XP_054229628
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01281,236,956 - 81,738,412 (-)NCBI
RefSeq Acc Id: XM_054373654   ⟹   XP_054229629
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01281,236,956 - 81,738,412 (-)NCBI
RefSeq Acc Id: XM_054373655   ⟹   XP_054229630
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01281,236,956 - 81,738,412 (-)NCBI
RefSeq Acc Id: XM_054373656   ⟹   XP_054229631
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01281,240,929 - 81,738,412 (-)NCBI
RefSeq Acc Id: XM_054373657   ⟹   XP_054229632
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01281,240,929 - 81,737,717 (-)NCBI
RefSeq Acc Id: XM_054373658   ⟹   XP_054229633
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01281,236,956 - 81,738,412 (-)NCBI
RefSeq Acc Id: XM_054373659   ⟹   XP_054229634
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01281,240,929 - 81,738,412 (-)NCBI
RefSeq Acc Id: XM_054373660   ⟹   XP_054229635
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01281,240,929 - 81,738,412 (-)NCBI
RefSeq Acc Id: XM_054373661   ⟹   XP_054229636
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01281,240,929 - 81,738,412 (-)NCBI
RefSeq Acc Id: XM_054373662   ⟹   XP_054229637
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01281,240,929 - 81,738,412 (-)NCBI
RefSeq Acc Id: XM_054373663   ⟹   XP_054229638
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01281,240,929 - 81,738,412 (-)NCBI
RefSeq Acc Id: XM_054373664   ⟹   XP_054229639
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01281,236,956 - 81,737,717 (-)NCBI
RefSeq Acc Id: XM_054373665   ⟹   XP_054229640
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01281,236,956 - 81,738,412 (-)NCBI
RefSeq Acc Id: XM_054373666   ⟹   XP_054229641
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01281,240,929 - 81,738,412 (-)NCBI
RefSeq Acc Id: XM_054373667   ⟹   XP_054229642
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01281,236,956 - 81,737,717 (-)NCBI
RefSeq Acc Id: XM_054373668   ⟹   XP_054229643
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01281,240,929 - 81,738,412 (-)NCBI
RefSeq Acc Id: XM_054373669   ⟹   XP_054229644
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01281,240,929 - 81,738,412 (-)NCBI
RefSeq Acc Id: XM_054373670   ⟹   XP_054229645
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01281,240,929 - 81,738,412 (-)NCBI
RefSeq Acc Id: XM_054373671   ⟹   XP_054229646
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01281,236,956 - 81,737,717 (-)NCBI
RefSeq Acc Id: XM_054373672   ⟹   XP_054229647
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01281,236,956 - 81,738,412 (-)NCBI
RefSeq Acc Id: XM_054373673   ⟹   XP_054229648
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01281,240,929 - 81,738,412 (-)NCBI
RefSeq Acc Id: XM_054373674   ⟹   XP_054229649
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01281,236,956 - 81,738,412 (-)NCBI
RefSeq Acc Id: XM_054373675   ⟹   XP_054229650
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01281,236,956 - 81,738,412 (-)NCBI
RefSeq Acc Id: XM_054373676   ⟹   XP_054229651
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01281,236,956 - 81,737,717 (-)NCBI
RefSeq Acc Id: XM_054373677   ⟹   XP_054229652
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01281,240,929 - 81,491,333 (-)NCBI
RefSeq Acc Id: XM_054373678   ⟹   XP_054229653
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01281,240,929 - 81,491,333 (-)NCBI
RefSeq Acc Id: XM_054373679   ⟹   XP_054229654
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01281,240,929 - 81,583,589 (-)NCBI
RefSeq Acc Id: XM_054373680   ⟹   XP_054229655
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01281,240,929 - 81,491,333 (-)NCBI
RefSeq Acc Id: XM_054373681   ⟹   XP_054229656
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01281,292,018 - 81,738,412 (-)NCBI
RefSeq Acc Id: XM_054373682   ⟹   XP_054229657
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01281,240,929 - 81,348,863 (-)NCBI
RefSeq Acc Id: XM_054373683   ⟹   XP_054229658
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01281,240,929 - 81,737,717 (-)NCBI
RefSeq Acc Id: XM_054373684   ⟹   XP_054229659
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01281,240,929 - 81,737,717 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001207402 (Get FASTA)   NCBI Sequence Viewer  
  NP_001207403 (Get FASTA)   NCBI Sequence Viewer  
  NP_001207404 (Get FASTA)   NCBI Sequence Viewer  
  NP_001207405 (Get FASTA)   NCBI Sequence Viewer  
  NP_001207406 (Get FASTA)   NCBI Sequence Viewer  
  NP_001207407 (Get FASTA)   NCBI Sequence Viewer  
  NP_001207408 (Get FASTA)   NCBI Sequence Viewer  
  NP_001207409 (Get FASTA)   NCBI Sequence Viewer  
  NP_001269465 (Get FASTA)   NCBI Sequence Viewer  
  NP_003616 (Get FASTA)   NCBI Sequence Viewer  
  XP_016875575 (Get FASTA)   NCBI Sequence Viewer  
  XP_016875577 (Get FASTA)   NCBI Sequence Viewer  
  XP_016875579 (Get FASTA)   NCBI Sequence Viewer  
  XP_016875583 (Get FASTA)   NCBI Sequence Viewer  
  XP_016875588 (Get FASTA)   NCBI Sequence Viewer  
  XP_016875592 (Get FASTA)   NCBI Sequence Viewer  
  XP_016875594 (Get FASTA)   NCBI Sequence Viewer  
  XP_016875596 (Get FASTA)   NCBI Sequence Viewer  
  XP_016875597 (Get FASTA)   NCBI Sequence Viewer  
  XP_016875607 (Get FASTA)   NCBI Sequence Viewer  
  XP_024305008 (Get FASTA)   NCBI Sequence Viewer  
  XP_024305009 (Get FASTA)   NCBI Sequence Viewer  
  XP_024305010 (Get FASTA)   NCBI Sequence Viewer  
  XP_024305012 (Get FASTA)   NCBI Sequence Viewer  
  XP_024305013 (Get FASTA)   NCBI Sequence Viewer  
  XP_047285726 (Get FASTA)   NCBI Sequence Viewer  
  XP_047285727 (Get FASTA)   NCBI Sequence Viewer  
  XP_047285728 (Get FASTA)   NCBI Sequence Viewer  
  XP_047285729 (Get FASTA)   NCBI Sequence Viewer  
  XP_047285730 (Get FASTA)   NCBI Sequence Viewer  
  XP_047285731 (Get FASTA)   NCBI Sequence Viewer  
  XP_047285732 (Get FASTA)   NCBI Sequence Viewer  
  XP_047285733 (Get FASTA)   NCBI Sequence Viewer  
  XP_047285734 (Get FASTA)   NCBI Sequence Viewer  
  XP_047285736 (Get FASTA)   NCBI Sequence Viewer  
  XP_047285737 (Get FASTA)   NCBI Sequence Viewer  
  XP_047285738 (Get FASTA)   NCBI Sequence Viewer  
  XP_047285739 (Get FASTA)   NCBI Sequence Viewer  
  XP_047285740 (Get FASTA)   NCBI Sequence Viewer  
  XP_047285741 (Get FASTA)   NCBI Sequence Viewer  
  XP_047285742 (Get FASTA)   NCBI Sequence Viewer  
  XP_047285743 (Get FASTA)   NCBI Sequence Viewer  
  XP_047285744 (Get FASTA)   NCBI Sequence Viewer  
  XP_047285745 (Get FASTA)   NCBI Sequence Viewer  
  XP_047285746 (Get FASTA)   NCBI Sequence Viewer  
  XP_047285747 (Get FASTA)   NCBI Sequence Viewer  
  XP_047285748 (Get FASTA)   NCBI Sequence Viewer  
  XP_047285749 (Get FASTA)   NCBI Sequence Viewer  
  XP_047285750 (Get FASTA)   NCBI Sequence Viewer  
  XP_047285751 (Get FASTA)   NCBI Sequence Viewer  
  XP_047285752 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229623 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229624 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229625 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229626 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229627 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229628 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229629 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229630 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229631 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229632 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229633 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229634 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229635 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229636 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229637 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229638 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229639 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229640 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229641 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229642 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229643 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229644 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229645 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229646 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229647 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229648 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229649 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229650 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229651 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229652 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229653 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229654 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229655 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229656 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229657 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229658 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229659 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC26100 (Get FASTA)   NCBI Sequence Viewer  
  AAI04913 (Get FASTA)   NCBI Sequence Viewer  
  AAI43486 (Get FASTA)   NCBI Sequence Viewer  
  BAE06091 (Get FASTA)   NCBI Sequence Viewer  
  BAG53897 (Get FASTA)   NCBI Sequence Viewer  
  BAG54412 (Get FASTA)   NCBI Sequence Viewer  
  BAH11792 (Get FASTA)   NCBI Sequence Viewer  
  BAH12335 (Get FASTA)   NCBI Sequence Viewer  
  BAH12564 (Get FASTA)   NCBI Sequence Viewer  
  BAH13149 (Get FASTA)   NCBI Sequence Viewer  
  BAH13771 (Get FASTA)   NCBI Sequence Viewer  
  EAW97374 (Get FASTA)   NCBI Sequence Viewer  
  EAW97375 (Get FASTA)   NCBI Sequence Viewer  
  EAW97376 (Get FASTA)   NCBI Sequence Viewer  
  EAW97377 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000327416
  ENSP00000327416.8
  ENSP00000385093
  ENSP00000385093.4
  ENSP00000388373.3
  ENSP00000438337
  ENSP00000438337.2
  ENSP00000445532
  ENSP00000445532.1
  ENSP00000446555.1
  ENSP00000447189.1
  ENSP00000447273
  ENSP00000447273.2
  ENSP00000447792.1
  ENSP00000447868
  ENSP00000447868.1
  ENSP00000447918.1
  ENSP00000448941.1
  ENSP00000449338
  ENSP00000449338.1
  ENSP00000449469.1
  ENSP00000449524.1
  ENSP00000449558
  ENSP00000449558.2
  ENSP00000449821.1
  ENSP00000450298
  ENSP00000450298.1
  ENSP00000450337
  ENSP00000450337.1
GenBank Protein O75334 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_003616   ⟸   NM_003625
- Peptide Label: isoform a
- UniProtKB: F8VP68 (UniProtKB/Swiss-Prot),   E7ETG6 (UniProtKB/Swiss-Prot),   E7ERB8 (UniProtKB/Swiss-Prot),   B7ZKZ5 (UniProtKB/Swiss-Prot),   B7Z663 (UniProtKB/Swiss-Prot),   B7Z3U9 (UniProtKB/Swiss-Prot),   B7Z2A6 (UniProtKB/Swiss-Prot),   B3KXA0 (UniProtKB/Swiss-Prot),   B3KVT5 (UniProtKB/Swiss-Prot),   Q2M3G8 (UniProtKB/Swiss-Prot),   O75334 (UniProtKB/Swiss-Prot),   Q4LE62 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001207403   ⟸   NM_001220474
- Peptide Label: isoform c
- UniProtKB: Q4LE62 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001207402   ⟸   NM_001220473
- Peptide Label: isoform b
- UniProtKB: G3V200 (UniProtKB/TrEMBL),   Q4LE62 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001207404   ⟸   NM_001220475
- Peptide Label: isoform d
- UniProtKB: Q4LE62 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001207405   ⟸   NM_001220476
- Peptide Label: isoform e
- UniProtKB: Q4LE62 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001207407   ⟸   NM_001220478
- Peptide Label: isoform g
- UniProtKB: B7Z7Y5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001207406   ⟸   NM_001220477
- Peptide Label: isoform f
- UniProtKB: B7Z7Y5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001207408   ⟸   NM_001220479
- Peptide Label: isoform h
- UniProtKB: O75334 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001207409   ⟸   NM_001220480
- Peptide Label: isoform i
- UniProtKB: O75334 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001269465   ⟸   NM_001282536
- Peptide Label: isoform j
- UniProtKB: B7Z7Y5 (UniProtKB/TrEMBL),   H0YHK3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016875596   ⟸   XM_017020107
- Peptide Label: isoform X27
- UniProtKB: Q4LE62 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016875579   ⟸   XM_017020090
- Peptide Label: isoform X11
- UniProtKB: Q4LE62 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016875597   ⟸   XM_017020108
- Peptide Label: isoform X29
- UniProtKB: Q4LE62 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016875592   ⟸   XM_017020103
- Peptide Label: isoform X22
- UniProtKB: Q4LE62 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016875577   ⟸   XM_017020088
- Peptide Label: isoform X10
- UniProtKB: Q4LE62 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016875583   ⟸   XM_017020094
- Peptide Label: isoform X16
- UniProtKB: Q4LE62 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016875575   ⟸   XM_017020086
- Peptide Label: isoform X7
- UniProtKB: G3V200 (UniProtKB/TrEMBL),   Q4LE62 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016875588   ⟸   XM_017020099
- Peptide Label: isoform X19
- UniProtKB: Q4LE62 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016875594   ⟸   XM_017020105
- Peptide Label: isoform X26
- UniProtKB: Q4LE62 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016875607   ⟸   XM_017020118
- Peptide Label: isoform X33
- UniProtKB: B7Z7Y5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024305010   ⟸   XM_024449242
- Peptide Label: isoform X30
- UniProtKB: Q4LE62 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024305008   ⟸   XM_024449240
- Peptide Label: isoform X14
- UniProtKB: Q4LE62 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024305013   ⟸   XM_024449245
- Peptide Label: isoform X36
- Sequence:
RefSeq Acc Id: XP_024305009   ⟸   XM_024449241
- Peptide Label: isoform X28
- UniProtKB: Q4LE62 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024305012   ⟸   XM_024449244
- Peptide Label: isoform X35
- Sequence:
RefSeq Acc Id: ENSP00000445532   ⟸   ENST00000541017
RefSeq Acc Id: ENSP00000438337   ⟸   ENST00000541570
RefSeq Acc Id: ENSP00000327416   ⟸   ENST00000333447
RefSeq Acc Id: ENSP00000447918   ⟸   ENST00000547623
RefSeq Acc Id: ENSP00000446555   ⟸   ENST00000548790
RefSeq Acc Id: ENSP00000447792   ⟸   ENST00000548670
RefSeq Acc Id: ENSP00000449338   ⟸   ENST00000548586
RefSeq Acc Id: ENSP00000450337   ⟸   ENST00000549396
RefSeq Acc Id: ENSP00000450298   ⟸   ENST00000549325
RefSeq Acc Id: ENSP00000388373   ⟸   ENST00000443686
RefSeq Acc Id: ENSP00000385093   ⟸   ENST00000407050
RefSeq Acc Id: ENSP00000447273   ⟸   ENST00000550359
RefSeq Acc Id: ENSP00000447189   ⟸   ENST00000550018
RefSeq Acc Id: ENSP00000449558   ⟸   ENST00000550584
RefSeq Acc Id: ENSP00000449524   ⟸   ENST00000551147
RefSeq Acc Id: ENSP00000449821   ⟸   ENST00000551461
RefSeq Acc Id: ENSP00000449469   ⟸   ENST00000551442
RefSeq Acc Id: ENSP00000447868   ⟸   ENST00000552948
RefSeq Acc Id: ENSP00000448941   ⟸   ENST00000553058
RefSeq Acc Id: XP_047285742   ⟸   XM_047429786
- Peptide Label: isoform X20
RefSeq Acc Id: XP_047285737   ⟸   XM_047429781
- Peptide Label: isoform X12
RefSeq Acc Id: XP_047285734   ⟸   XM_047429778
- Peptide Label: isoform X9
RefSeq Acc Id: XP_047285731   ⟸   XM_047429775
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047285747   ⟸   XM_047429791
- Peptide Label: isoform X31
RefSeq Acc Id: XP_047285744   ⟸   XM_047429788
- Peptide Label: isoform X23
RefSeq Acc Id: XP_047285741   ⟸   XM_047429785
- Peptide Label: isoform X18
RefSeq Acc Id: XP_047285745   ⟸   XM_047429789
- Peptide Label: isoform X24
RefSeq Acc Id: XP_047285739   ⟸   XM_047429783
- Peptide Label: isoform X15
RefSeq Acc Id: XP_047285733   ⟸   XM_047429777
- Peptide Label: isoform X8
RefSeq Acc Id: XP_047285730   ⟸   XM_047429774
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047285746   ⟸   XM_047429790
- Peptide Label: isoform X25
RefSeq Acc Id: XP_047285743   ⟸   XM_047429787
- Peptide Label: isoform X21
RefSeq Acc Id: XP_047285740   ⟸   XM_047429784
- Peptide Label: isoform X17
RefSeq Acc Id: XP_047285738   ⟸   XM_047429782
- Peptide Label: isoform X13
RefSeq Acc Id: XP_047285732   ⟸   XM_047429776
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047285729   ⟸   XM_047429773
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047285726   ⟸   XM_047429770
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047285752   ⟸   XM_047429796
- Peptide Label: isoform X38
RefSeq Acc Id: XP_047285751   ⟸   XM_047429795
- Peptide Label: isoform X37
RefSeq Acc Id: XP_047285736   ⟸   XM_047429780
- Peptide Label: isoform X10
RefSeq Acc Id: XP_047285728   ⟸   XM_047429772
- Peptide Label: isoform X2
- UniProtKB: O75334 (UniProtKB/Swiss-Prot),   F8VP68 (UniProtKB/Swiss-Prot),   E7ETG6 (UniProtKB/Swiss-Prot),   E7ERB8 (UniProtKB/Swiss-Prot),   B7ZKZ5 (UniProtKB/Swiss-Prot),   B7Z663 (UniProtKB/Swiss-Prot),   B7Z3U9 (UniProtKB/Swiss-Prot),   B7Z2A6 (UniProtKB/Swiss-Prot),   B3KXA0 (UniProtKB/Swiss-Prot),   B3KVT5 (UniProtKB/Swiss-Prot),   Q2M3G8 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047285727   ⟸   XM_047429771
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047285750   ⟸   XM_047429794
- Peptide Label: isoform X34
RefSeq Acc Id: XP_047285749   ⟸   XM_047429793
- Peptide Label: isoform X32
RefSeq Acc Id: XP_047285748   ⟸   XM_047429792
- Peptide Label: isoform X32
RefSeq Acc Id: XP_054229650   ⟸   XM_054373675
- Peptide Label: isoform X30
RefSeq Acc Id: XP_054229647   ⟸   XM_054373672
- Peptide Label: isoform X27
RefSeq Acc Id: XP_054229633   ⟸   XM_054373658
- Peptide Label: isoform X11
RefSeq Acc Id: XP_054229629   ⟸   XM_054373654
- Peptide Label: isoform X7
- UniProtKB: G3V200 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054229649   ⟸   XM_054373674
- Peptide Label: isoform X29
RefSeq Acc Id: XP_054229640   ⟸   XM_054373665
- Peptide Label: isoform X20
RefSeq Acc Id: XP_054229630   ⟸   XM_054373655
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054229628   ⟸   XM_054373653
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054229639   ⟸   XM_054373664
- Peptide Label: isoform X19
RefSeq Acc Id: XP_054229646   ⟸   XM_054373671
- Peptide Label: isoform X26
RefSeq Acc Id: XP_054229651   ⟸   XM_054373676
- Peptide Label: isoform X31
RefSeq Acc Id: XP_054229642   ⟸   XM_054373667
- Peptide Label: isoform X22
RefSeq Acc Id: XP_054229631   ⟸   XM_054373656
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054229643   ⟸   XM_054373668
- Peptide Label: isoform X23
RefSeq Acc Id: XP_054229638   ⟸   XM_054373663
- Peptide Label: isoform X18
RefSeq Acc Id: XP_054229636   ⟸   XM_054373661
- Peptide Label: isoform X16
RefSeq Acc Id: XP_054229648   ⟸   XM_054373673
- Peptide Label: isoform X28
RefSeq Acc Id: XP_054229644   ⟸   XM_054373669
- Peptide Label: isoform X24
RefSeq Acc Id: XP_054229635   ⟸   XM_054373660
- Peptide Label: isoform X15
RefSeq Acc Id: XP_054229627   ⟸   XM_054373652
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054229645   ⟸   XM_054373670
- Peptide Label: isoform X25
RefSeq Acc Id: XP_054229641   ⟸   XM_054373666
- Peptide Label: isoform X21
RefSeq Acc Id: XP_054229637   ⟸   XM_054373662
- Peptide Label: isoform X17
RefSeq Acc Id: XP_054229634   ⟸   XM_054373659
- Peptide Label: isoform X13
RefSeq Acc Id: XP_054229626   ⟸   XM_054373651
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054229623   ⟸   XM_054373648
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054229659   ⟸   XM_054373684
- Peptide Label: isoform X38
RefSeq Acc Id: XP_054229658   ⟸   XM_054373683
- Peptide Label: isoform X37
RefSeq Acc Id: XP_054229632   ⟸   XM_054373657
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054229625   ⟸   XM_054373650
- Peptide Label: isoform X2
- UniProtKB: O75334 (UniProtKB/Swiss-Prot),   F8VP68 (UniProtKB/Swiss-Prot),   E7ETG6 (UniProtKB/Swiss-Prot),   E7ERB8 (UniProtKB/Swiss-Prot),   B7ZKZ5 (UniProtKB/Swiss-Prot),   B7Z663 (UniProtKB/Swiss-Prot),   B7Z3U9 (UniProtKB/Swiss-Prot),   B7Z2A6 (UniProtKB/Swiss-Prot),   B3KXA0 (UniProtKB/Swiss-Prot),   B3KVT5 (UniProtKB/Swiss-Prot),   Q2M3G8 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054229624   ⟸   XM_054373649
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054229654   ⟸   XM_054373679
- Peptide Label: isoform X33
RefSeq Acc Id: XP_054229655   ⟸   XM_054373680
- Peptide Label: isoform X34
RefSeq Acc Id: XP_054229653   ⟸   XM_054373678
- Peptide Label: isoform X32
RefSeq Acc Id: XP_054229652   ⟸   XM_054373677
- Peptide Label: isoform X32
RefSeq Acc Id: XP_054229657   ⟸   XM_054373682
- Peptide Label: isoform X36
RefSeq Acc Id: XP_054229656   ⟸   XM_054373681
- Peptide Label: isoform X35
Protein Domains
SAM

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O75334-F1-model_v2 AlphaFold O75334 1-1257 view protein structure

Promoters
RGD ID:7224917
Promoter ID:EPDNEW_H18204
Type:initiation region
Name:PPFIA2_1
Description:PTPRF interacting protein alpha 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18205  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381281,758,654 - 81,758,714EPDNEW
RGD ID:7224919
Promoter ID:EPDNEW_H18205
Type:initiation region
Name:PPFIA2_2
Description:PTPRF interacting protein alpha 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18204  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381281,759,347 - 81,759,407EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9246 AgrOrtholog
COSMIC PPFIA2 COSMIC
Ensembl Genes ENSG00000139220 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000333447 ENTREZGENE
  ENST00000333447.11 UniProtKB/Swiss-Prot
  ENST00000407050 ENTREZGENE
  ENST00000407050.8 UniProtKB/Swiss-Prot
  ENST00000443686.7 UniProtKB/Swiss-Prot
  ENST00000541017 ENTREZGENE
  ENST00000541017.5 UniProtKB/Swiss-Prot
  ENST00000541570 ENTREZGENE
  ENST00000541570.6 UniProtKB/Swiss-Prot
  ENST00000547623.5 UniProtKB/TrEMBL
  ENST00000548586 ENTREZGENE
  ENST00000548586.5 UniProtKB/Swiss-Prot
  ENST00000548670.1 UniProtKB/TrEMBL
  ENST00000548790.1 UniProtKB/TrEMBL
  ENST00000549325 ENTREZGENE
  ENST00000549325.5 UniProtKB/Swiss-Prot
  ENST00000549396 ENTREZGENE
  ENST00000549396.6 UniProtKB/Swiss-Prot
  ENST00000550018.5 UniProtKB/TrEMBL
  ENST00000550359 ENTREZGENE
  ENST00000550359.6 UniProtKB/TrEMBL
  ENST00000550584 ENTREZGENE
  ENST00000550584.6 UniProtKB/TrEMBL
  ENST00000551147.1 UniProtKB/TrEMBL
  ENST00000551442.5 UniProtKB/TrEMBL
  ENST00000551461.5 UniProtKB/TrEMBL
  ENST00000552948 ENTREZGENE
  ENST00000552948.5 UniProtKB/Swiss-Prot
  ENST00000553058.5 UniProtKB/TrEMBL
Gene3D-CATH 1.10.150.50 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000139220 GTEx
HGNC ID HGNC:9246 ENTREZGENE
Human Proteome Map PPFIA2 Human Proteome Map
InterPro Liprin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Liprin-alpha_SAM_rpt_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  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:8499 UniProtKB/Swiss-Prot
NCBI Gene 8499 ENTREZGENE
OMIM 603143 OMIM
PANTHER PTHR12587 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR12587:SF6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam SAM_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33567 PharmGKB
PROSITE SAM_DOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SAM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47769 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tropomyosin UniProtKB/TrEMBL
UniProt B3KVT5 ENTREZGENE
  B3KXA0 ENTREZGENE
  B7Z2A6 ENTREZGENE
  B7Z3U9 ENTREZGENE
  B7Z663 ENTREZGENE
  B7Z7Y5 ENTREZGENE, UniProtKB/TrEMBL
  B7ZKZ5 ENTREZGENE
  E7ERB8 ENTREZGENE
  E7ETG6 ENTREZGENE
  F8VP68 ENTREZGENE
  F8VU88_HUMAN UniProtKB/TrEMBL
  F8VWG6_HUMAN UniProtKB/TrEMBL
  F8VWR9_HUMAN UniProtKB/TrEMBL
  F8VYK7_HUMAN UniProtKB/TrEMBL
  F8W1Y8_HUMAN UniProtKB/TrEMBL
  G3V200 ENTREZGENE, UniProtKB/TrEMBL
  H0YH95_HUMAN UniProtKB/TrEMBL
  H0YHJ4_HUMAN UniProtKB/TrEMBL
  H0YHK3 ENTREZGENE, UniProtKB/TrEMBL
  H0YIJ4_HUMAN UniProtKB/TrEMBL
  LIPA2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q2M3G8 ENTREZGENE
  Q4LE62 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary B3KVT5 UniProtKB/Swiss-Prot
  B3KXA0 UniProtKB/Swiss-Prot
  B7Z2A6 UniProtKB/Swiss-Prot
  B7Z3U9 UniProtKB/Swiss-Prot
  B7Z663 UniProtKB/Swiss-Prot
  B7ZKZ5 UniProtKB/Swiss-Prot
  E7ERB8 UniProtKB/Swiss-Prot
  E7ETG6 UniProtKB/Swiss-Prot
  F8VP68 UniProtKB/Swiss-Prot
  Q2M3G8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-16 PPFIA2  PTPRF interacting protein alpha 2    protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2  Symbol and/or name change 5135510 APPROVED