PTPN14 (protein tyrosine phosphatase non-receptor type 14) - Rat Genome Database

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Gene: PTPN14 (protein tyrosine phosphatase non-receptor type 14) Homo sapiens
Analyze
Symbol: PTPN14
Name: protein tyrosine phosphatase non-receptor type 14
RGD ID: 1317339
HGNC Page HGNC:9647
Description: Enables protein tyrosine phosphatase activity; receptor tyrosine kinase binding activity; and transcription coregulator activity. Involved in lymphangiogenesis; negative regulation of cell population proliferation; and regulation of protein export from nucleus. Located in cytoplasm and nucleoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CATLPH; cytoskeletal-associated protein tyrosine phosphatase; MGC126803; PEZ; protein-tyrosine phosphatase pez; PTP36; PTPD2; tyrosine-protein phosphatase non-receptor type 14
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
GRCh381214,348,700 - 214,551,602 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1214,348,700 - 214,552,449 (-)EnsemblGRCh38hg38GRCh38
GRCh371214,522,043 - 214,724,945 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361212,597,634 - 212,791,265 (-)NCBINCBI36Build 36hg18NCBI36
Build 341210,919,405 - 211,113,037NCBI
Celera1187,744,922 - 187,948,451 (-)NCBICelera
Cytogenetic Map1q32.3-q41NCBI
HuRef1185,197,160 - 185,400,149 (-)NCBIHuRef
CHM1_11215,794,413 - 215,997,321 (-)NCBICHM1_1
T2T-CHM13v2.01213,588,194 - 213,791,283 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-sulfonyldiphenol  (EXP,ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP,ISO)
arsenite(3-)  (EXP)
atrazine  (ISO)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP,ISO)
bromobenzene  (ISO)
caffeine  (EXP)
calyculin a  (ISO)
cannabidiol  (ISO)
carbamazepine  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chlorpyrifos  (ISO)
choline  (ISO)
cisplatin  (EXP)
cobalt dichloride  (EXP)
copper(II) sulfate  (EXP)
crocidolite asbestos  (ISO)
cyclosporin A  (EXP,ISO)
cylindrospermopsin  (EXP)
deoxynivalenol  (ISO)
dexamethasone  (EXP)
dibutyl phthalate  (ISO)
diethyl maleate  (ISO)
diuron  (ISO)
doxorubicin  (EXP)
endosulfan  (ISO)
ethanol  (ISO)
fenamidone  (ISO)
folic acid  (EXP,ISO)
FR900359  (EXP)
fulvestrant  (EXP)
genistein  (ISO)
hypochlorous acid  (ISO)
indometacin  (EXP)
ketoconazole  (EXP)
L-methionine  (ISO)
lead diacetate  (ISO)
lipopolysaccharide  (EXP)
methylmercury chloride  (EXP)
N,N-diethyl-m-toluamide  (ISO)
N-methyl-N-nitrosourea  (ISO)
N-nitrosodiethylamine  (ISO)
ozone  (ISO)
paracetamol  (EXP)
perfluorohexanesulfonic acid  (ISO)
permethrin  (ISO)
phenobarbital  (ISO)
pirinixic acid  (ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
silicon dioxide  (EXP,ISO)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenite  (EXP,ISO)
succimer  (ISO)
tetrachloromethane  (ISO)
torcetrapib  (EXP)
valproic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytoplasm  (IBA,IDA,IEA)
cytoskeleton  (IEA)
nucleoplasm  (IDA,TAS)
nucleus  (IDA,IEA)

Molecular Function

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. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:7545953   PMID:7733990   PMID:10212280   PMID:10400706   PMID:10600535   PMID:10934049   PMID:12477932   PMID:12808048   PMID:14702039   PMID:15324660   PMID:15717329   PMID:16344560  
PMID:16534812   PMID:17081983   PMID:17314511   PMID:17979178   PMID:18677119   PMID:20379614   PMID:20826270   PMID:21150319   PMID:21873635   PMID:22233626   PMID:22525271   PMID:22689061  
PMID:22710723   PMID:22810586   PMID:22948661   PMID:23402259   PMID:23613971   PMID:24255178   PMID:24366813   PMID:24386095   PMID:24550385   PMID:24722205   PMID:25023289   PMID:25071155  
PMID:25283809   PMID:25429064   PMID:25681440   PMID:25751139   PMID:25796446   PMID:25803229   PMID:25814387   PMID:26186194   PMID:26496610   PMID:26933062   PMID:27173435   PMID:27432908  
PMID:27485598   PMID:27651363   PMID:27684187   PMID:27880917   PMID:28100625   PMID:28514442   PMID:28675297   PMID:28718761   PMID:28720576   PMID:28786561   PMID:29017057   PMID:29089450  
PMID:29395067   PMID:29467282   PMID:29491746   PMID:29507755   PMID:29778605   PMID:30209976   PMID:30559405   PMID:30639242   PMID:30865227   PMID:30894485   PMID:31048545   PMID:31091453  
PMID:31168824   PMID:31323018   PMID:31340145   PMID:31753913   PMID:31793993   PMID:31806880   PMID:31871319   PMID:32141101   PMID:32292505   PMID:32296183   PMID:32327488   PMID:32581101  
PMID:32645410   PMID:32877691   PMID:32882759   PMID:32978373   PMID:33306668   PMID:33491997   PMID:33602785   PMID:33684622   PMID:33957083   PMID:33961781   PMID:34079125   PMID:34591612  
PMID:34702444   PMID:35271311   PMID:35563538   PMID:35830698   PMID:36215168   PMID:36526897   PMID:36724073   PMID:36898991   PMID:36931259   PMID:37014433   PMID:37536630   PMID:37689310  
PMID:37827155   PMID:38117590   PMID:38280479   PMID:38496616  


Genomics

Comparative Map Data
PTPN14
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381214,348,700 - 214,551,602 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1214,348,700 - 214,552,449 (-)EnsemblGRCh38hg38GRCh38
GRCh371214,522,043 - 214,724,945 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361212,597,634 - 212,791,265 (-)NCBINCBI36Build 36hg18NCBI36
Build 341210,919,405 - 211,113,037NCBI
Celera1187,744,922 - 187,948,451 (-)NCBICelera
Cytogenetic Map1q32.3-q41NCBI
HuRef1185,197,160 - 185,400,149 (-)NCBIHuRef
CHM1_11215,794,413 - 215,997,321 (-)NCBICHM1_1
T2T-CHM13v2.01213,588,194 - 213,791,283 (-)NCBIT2T-CHM13v2.0
Ptpn14
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391189,460,417 - 189,608,892 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1189,460,465 - 189,608,892 (+)EnsemblGRCm39 Ensembl
GRCm381189,728,216 - 189,876,695 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1189,728,268 - 189,876,695 (+)EnsemblGRCm38mm10GRCm38
MGSCv371191,552,147 - 191,700,574 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361191,487,431 - 191,571,095 (+)NCBIMGSCv36mm8
Celera1196,636,477 - 196,787,232 (+)NCBICelera
Cytogenetic Map1H6NCBI
cM Map195.03NCBI
Ptpn14
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr813103,799,473 - 103,951,708 (+)NCBIGRCr8
mRatBN7.213101,268,258 - 101,420,508 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl13101,268,416 - 101,414,088 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx13103,783,686 - 103,935,894 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.013105,172,446 - 105,324,667 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.013102,370,728 - 102,530,217 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.013108,689,916 - 108,841,593 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl13108,696,336 - 108,841,511 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.013113,306,394 - 113,456,734 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.413106,004,935 - 106,150,162 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.113106,207,851 - 106,339,059 (+)NCBI
Celera13100,754,468 - 100,899,677 (+)NCBICelera
Cytogenetic Map13q26NCBI
Ptpn14
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554063,368,694 - 3,456,437 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554063,368,833 - 3,463,170 (+)NCBIChiLan1.0ChiLan1.0
PTPN14
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2134,849,262 - 35,053,561 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1134,815,239 - 35,016,066 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01189,925,706 - 190,120,232 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11194,772,573 - 194,974,151 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1194,780,068 - 194,887,798 (-)Ensemblpanpan1.1panPan2
PTPN14
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1712,335,327 - 12,454,992 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl712,342,277 - 12,486,204 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha711,917,031 - 12,089,594 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0712,045,325 - 12,225,483 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl712,053,022 - 12,196,693 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1711,968,818 - 12,148,661 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0712,073,011 - 12,253,097 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0712,197,276 - 12,377,823 (-)NCBIUU_Cfam_GSD_1.0
Ptpn14
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934461,729,049 - 61,904,921 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366283,739,152 - 3,907,662 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366283,739,223 - 3,916,157 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PTPN14
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl9129,055,698 - 129,248,578 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.19129,114,668 - 129,248,898 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.29142,083,595 - 142,138,242 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PTPN14
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12515,023,914 - 15,228,680 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2515,110,687 - 15,219,492 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605515,498,133 - 15,703,629 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ptpn14
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462477119,495,821 - 19,573,568 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462477119,489,069 - 19,625,328 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PTPN14
141 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_005401.5(PTPN14):c.581+60_669+877del deletion Lymphedema-posterior choanal atresia syndrome [RCV000006999] Chr1:214400808..214402823 [GRCh38]
Chr1:214574151..214576166 [GRCh37]
Chr1:1q41		 pathogenic
NM_005401.4(PTPN14):c.-154-4074G>T single nucleotide variant Lung cancer [RCV000090444] Chr1:214469031 [GRCh38]
Chr1:214642374 [GRCh37]
Chr1:1q41		 uncertain significance
NM_005401.4(PTPN14):c.-154-15476C>T single nucleotide variant Lung cancer [RCV000090445] Chr1:214480433 [GRCh38]
Chr1:214653776 [GRCh37]
Chr1:1q41		 uncertain significance
NM_005401.4(PTPN14):c.-155+7135G>T single nucleotide variant Lung cancer [RCV000090446] Chr1:214544048 [GRCh38]
Chr1:214717391 [GRCh37]
Chr1:1q41		 uncertain significance
GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3 copy number gain See cases [RCV000050981] Chr1:214023812..248918469 [GRCh38]
Chr1:214197155..249212668 [GRCh37]
Chr1:212263778..247179291 [NCBI36]
Chr1:1q32.3-44		 pathogenic
GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3 copy number gain See cases [RCV000051857] Chr1:187143981..224299417 [GRCh38]
Chr1:187113113..224487119 [GRCh37]
Chr1:185379736..222553742 [NCBI36]
Chr1:1q31.1-42.11		 pathogenic
GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3 copy number gain See cases [RCV000051861] Chr1:209646207..248931113 [GRCh38]
Chr1:209819552..249225312 [GRCh37]
Chr1:207886175..247191935 [NCBI36]
Chr1:1q32.2-44		 pathogenic
GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3 copy number gain See cases [RCV000134979] Chr1:209963625..248918469 [GRCh38]
Chr1:210136970..249212668 [GRCh37]
Chr1:208203593..247179291 [NCBI36]
Chr1:1q32.2-44		 pathogenic
GRCh38/hg38 1q32.3-41(chr1:214023812-216598173)x3 copy number gain See cases [RCV000136585] Chr1:214023812..216598173 [GRCh38]
Chr1:214197155..216771515 [GRCh37]
Chr1:212263778..214838138 [NCBI36]
Chr1:1q32.3-41		 uncertain significance
GRCh38/hg38 1q32.3-41(chr1:214028574-217327791)x3 copy number gain See cases [RCV000142206] Chr1:214028574..217327791 [GRCh38]
Chr1:214201917..217501133 [GRCh37]
Chr1:212268540..215567756 [NCBI36]
Chr1:1q32.3-41		 uncertain significance
GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3 copy number gain See cases [RCV000142054] Chr1:204764914..225408698 [GRCh38]
Chr1:204734042..225596400 [GRCh37]
Chr1:203000665..223663023 [NCBI36]
Chr1:1q32.1-42.12		 pathogenic
GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3 copy number gain See cases [RCV000143727] Chr1:207346642..248930485 [GRCh38]
Chr1:207519987..249224684 [GRCh37]
Chr1:205586610..247191307 [NCBI36]
Chr1:1q32.2-44		 pathogenic
GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3 copy number gain See cases [RCV000240137] Chr1:197811907..228997888 [GRCh37]
Chr1:1q31.3-42.13		 pathogenic
GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3 copy number gain See cases [RCV000449172] Chr1:195483439..249213000 [GRCh37]
Chr1:1q31.3-44		 pathogenic
GRCh37/hg19 1q41-44(chr1:214697099-249224684)x3 copy number gain See cases [RCV000449210] Chr1:214697099..249224684 [GRCh37]
Chr1:1q41-44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_005401.5(PTPN14):c.226G>T (p.Val76Leu) single nucleotide variant Inborn genetic diseases [RCV003276308] Chr1:214451923 [GRCh38]
Chr1:214625266 [GRCh37]
Chr1:1q41		 uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1q32.3-41(chr1:214359179-214576614)x3 copy number gain not provided [RCV000736872] Chr1:214359179..214576614 [GRCh37]
Chr1:1q32.3-41		 benign
GRCh37/hg19 1q41(chr1:214572600-214612807)x1 copy number loss not provided [RCV000736873] Chr1:214572600..214612807 [GRCh37]
Chr1:1q41		 benign
NM_005401.5(PTPN14):c.401_402insTT (p.Leu135fs) insertion Lymphedema-posterior choanal atresia syndrome [RCV000735851] Chr1:214414669..214414670 [GRCh38]
Chr1:214588012..214588013 [GRCh37]
Chr1:1q41		 pathogenic
GRCh37/hg19 1q25.3-41(chr1:185644663-221698833)x3 copy number gain not provided [RCV000749265] Chr1:185644663..221698833 [GRCh37]
Chr1:1q25.3-41		 pathogenic
NM_005401.5(PTPN14):c.3036+294A>C single nucleotide variant not provided [RCV001678621] Chr1:214372417 [GRCh38]
Chr1:214545760 [GRCh37]
Chr1:1q32.3		 benign
NM_005401.5(PTPN14):c.3435+306G>A single nucleotide variant not provided [RCV001610049] Chr1:214364206 [GRCh38]
Chr1:214537549 [GRCh37]
Chr1:1q32.3		 benign
NM_005401.5(PTPN14):c.2544+114G>A single nucleotide variant not provided [RCV001693074] Chr1:214383197 [GRCh38]
Chr1:214556540 [GRCh37]
Chr1:1q32.3		 benign
NM_005401.5(PTPN14):c.1701G>A (p.Pro567=) single nucleotide variant not provided [RCV000906906] Chr1:214384154 [GRCh38]
Chr1:214557497 [GRCh37]
Chr1:1q32.3		 likely benign
NM_005401.5(PTPN14):c.670-9C>T single nucleotide variant not provided [RCV000971260] Chr1:214398010 [GRCh38]
Chr1:214571353 [GRCh37]
Chr1:1q32.3		 benign
NM_005401.5(PTPN14):c.511-10A>G single nucleotide variant not provided [RCV000926390] Chr1:214402963 [GRCh38]
Chr1:214576306 [GRCh37]
Chr1:1q41		 likely benign
NM_005401.5(PTPN14):c.2031C>T (p.Pro677=) single nucleotide variant not provided [RCV000908234] Chr1:214383824 [GRCh38]
Chr1:214557167 [GRCh37]
Chr1:1q32.3		 likely benign
NM_005401.5(PTPN14):c.2217G>A (p.Ala739=) single nucleotide variant not provided [RCV000917077] Chr1:214383638 [GRCh38]
Chr1:214556981 [GRCh37]
Chr1:1q32.3		 likely benign
NM_005401.5(PTPN14):c.1512G>A (p.Gly504=) single nucleotide variant not provided [RCV000953165] Chr1:214384343 [GRCh38]
Chr1:214557686 [GRCh37]
Chr1:1q32.3		 likely benign
NM_005401.5(PTPN14):c.443-8C>A single nucleotide variant not provided [RCV000892500] Chr1:214411759 [GRCh38]
Chr1:214585102 [GRCh37]
Chr1:1q41		 benign
NM_005401.5(PTPN14):c.2802C>T (p.Ala934=) single nucleotide variant not provided [RCV000924301] Chr1:214376324 [GRCh38]
Chr1:214549667 [GRCh37]
Chr1:1q32.3		 likely benign
NM_005401.5(PTPN14):c.1886C>T (p.Thr629Met) single nucleotide variant not provided [RCV000946554] Chr1:214383969 [GRCh38]
Chr1:214557312 [GRCh37]
Chr1:1q32.3		 benign
NM_005401.5(PTPN14):c.268G>A (p.Ala90Thr) single nucleotide variant not provided [RCV000946555] Chr1:214451881 [GRCh38]
Chr1:214625224 [GRCh37]
Chr1:1q41		 benign
NM_005401.5(PTPN14):c.2514C>T (p.Asp838=) single nucleotide variant PTPN14-related condition [RCV003936113]|not provided [RCV000971205] Chr1:214383341 [GRCh38]
Chr1:214556684 [GRCh37]
Chr1:1q32.3		 benign|likely benign
NM_005401.5(PTPN14):c.1059C>T (p.Thr353=) single nucleotide variant PTPN14-related condition [RCV003958039]|not provided [RCV000895958] Chr1:214386851 [GRCh38]
Chr1:214560194 [GRCh37]
Chr1:1q32.3		 benign|likely benign
NM_005401.5(PTPN14):c.3138G>A (p.Thr1046=) single nucleotide variant not provided [RCV000932055] Chr1:214369590 [GRCh38]
Chr1:214542933 [GRCh37]
Chr1:1q32.3		 likely benign
NM_005401.5(PTPN14):c.846G>A (p.Thr282=) single nucleotide variant not provided [RCV000974174] Chr1:214394899 [GRCh38]
Chr1:214568242 [GRCh37]
Chr1:1q32.3		 benign
NM_005401.5(PTPN14):c.1079A>C (p.His360Pro) single nucleotide variant not provided [RCV000880370] Chr1:214384776 [GRCh38]
Chr1:214558119 [GRCh37]
Chr1:1q32.3		 benign|likely benign
GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3 copy number gain not provided [RCV000845852] Chr1:182388773..249111240 [GRCh37]
Chr1:1q25.3-44		 pathogenic
NM_005401.5(PTPN14):c.3432C>T (p.Asn1144=) single nucleotide variant not provided [RCV000916814] Chr1:214364515 [GRCh38]
Chr1:214537858 [GRCh37]
Chr1:1q32.3		 likely benign
GRCh37/hg19 1q32.3-41(chr1:213650050-215256600)x3 copy number gain not provided [RCV000845837] Chr1:213650050..215256600 [GRCh37]
Chr1:1q32.3-41		 uncertain significance
NM_005401.5(PTPN14):c.2002C>T (p.Arg668Cys) single nucleotide variant PTPN14-related condition [RCV003920774]|not provided [RCV000891920] Chr1:214383853 [GRCh38]
Chr1:214557196 [GRCh37]
Chr1:1q32.3		 likely benign
GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3 copy number gain See cases [RCV001194578] Chr1:210152794..249218992 [GRCh37]
Chr1:1q32.2-44		 pathogenic
NM_005401.5(PTPN14):c.-154-345C>T single nucleotide variant not provided [RCV001609322] Chr1:214465302 [GRCh38]
Chr1:214638645 [GRCh37]
Chr1:1q41		 benign
NM_005401.5(PTPN14):c.511-217G>A single nucleotide variant not provided [RCV001695297] Chr1:214403170 [GRCh38]
Chr1:214576513 [GRCh37]
Chr1:1q41		 benign
NM_005401.5(PTPN14):c.511-158G>T single nucleotide variant not provided [RCV001679313] Chr1:214403111 [GRCh38]
Chr1:214576454 [GRCh37]
Chr1:1q41		 benign
NM_005401.5(PTPN14):c.-26G>A single nucleotide variant Lymphedema-posterior choanal atresia syndrome [RCV001796642]|not provided [RCV001651786] Chr1:214464829 [GRCh38]
Chr1:214638172 [GRCh37]
Chr1:1q41		 benign
NM_005401.5(PTPN14):c.847-258T>C single nucleotide variant not provided [RCV001687237] Chr1:214394035 [GRCh38]
Chr1:214567378 [GRCh37]
Chr1:1q32.3		 benign
NM_005401.5(PTPN14):c.-154-47T>C single nucleotide variant not provided [RCV001657374] Chr1:214465004 [GRCh38]
Chr1:214638347 [GRCh37]
Chr1:1q41		 benign
NM_005401.5(PTPN14):c.511-186G>A single nucleotide variant not provided [RCV001656481] Chr1:214403139 [GRCh38]
Chr1:214576482 [GRCh37]
Chr1:1q41		 benign
NM_005401.5(PTPN14):c.758+286G>A single nucleotide variant not provided [RCV001620779] Chr1:214397627 [GRCh38]
Chr1:214570970 [GRCh37]
Chr1:1q32.3		 benign
NM_005401.5(PTPN14):c.3037-64T>C single nucleotide variant not provided [RCV001594758] Chr1:214369755 [GRCh38]
Chr1:214543098 [GRCh37]
Chr1:1q32.3		 benign
NM_005401.5(PTPN14):c.581+5G>A single nucleotide variant not provided [RCV001573599]|not specified [RCV001699589] Chr1:214402878 [GRCh38]
Chr1:214576221 [GRCh37]
Chr1:1q41		 benign|likely benign
NM_005401.5(PTPN14):c.-154-19A>G single nucleotide variant not provided [RCV001714996] Chr1:214464976 [GRCh38]
Chr1:214638319 [GRCh37]
Chr1:1q41		 benign
NM_005401.5(PTPN14):c.2832C>T (p.Pro944=) single nucleotide variant not provided [RCV000931684] Chr1:214376294 [GRCh38]
Chr1:214549637 [GRCh37]
Chr1:1q32.3		 likely benign
NM_005401.5(PTPN14):c.2630G>A (p.Arg877Gln) single nucleotide variant not provided [RCV000974884] Chr1:214378017 [GRCh38]
Chr1:214551360 [GRCh37]
Chr1:1q32.3		 benign
NM_005401.5(PTPN14):c.402A>G (p.Thr134=) single nucleotide variant not provided [RCV000892501] Chr1:214414669 [GRCh38]
Chr1:214588012 [GRCh37]
Chr1:1q41		 benign
NM_005401.5(PTPN14):c.3312C>T (p.Asn1104=) single nucleotide variant not provided [RCV000974172] Chr1:214364635 [GRCh38]
Chr1:214537978 [GRCh37]
Chr1:1q32.3		 benign
NM_005401.5(PTPN14):c.2132AGG[4] (p.Glu715_Glu716del) microsatellite not provided [RCV000974173] Chr1:214383706..214383711 [GRCh38]
Chr1:214557049..214557054 [GRCh37]
Chr1:1q32.3		 benign
NM_005401.5(PTPN14):c.3180C>T (p.His1060=) single nucleotide variant not provided [RCV000955279] Chr1:214369548 [GRCh38]
Chr1:214542891 [GRCh37]
Chr1:1q32.3		 benign
NM_005401.5(PTPN14):c.1383C>T (p.Ser461=) single nucleotide variant not provided [RCV000888396] Chr1:214384472 [GRCh38]
Chr1:214557815 [GRCh37]
Chr1:1q32.3		 benign
NM_005401.5(PTPN14):c.1200G>A (p.Ser400=) single nucleotide variant not provided [RCV000954851]|not specified [RCV001701376] Chr1:214384655 [GRCh38]
Chr1:214557998 [GRCh37]
Chr1:1q32.3		 benign|likely benign
NM_005401.5(PTPN14):c.414G>A (p.Val138=) single nucleotide variant not provided [RCV000916729] Chr1:214414657 [GRCh38]
Chr1:214588000 [GRCh37]
Chr1:1q41		 benign
NM_005401.5(PTPN14):c.633T>A (p.Arg211=) single nucleotide variant not provided [RCV000909627] Chr1:214401721 [GRCh38]
Chr1:214575064 [GRCh37]
Chr1:1q41		 likely benign
NM_005401.5(PTPN14):c.1902C>T (p.His634=) single nucleotide variant not provided [RCV000933468] Chr1:214383953 [GRCh38]
Chr1:214557296 [GRCh37]
Chr1:1q32.3		 likely benign
NM_005401.5(PTPN14):c.252A>G (p.Lys84=) single nucleotide variant not provided [RCV000891446] Chr1:214451897 [GRCh38]
Chr1:214625240 [GRCh37]
Chr1:1q41		 likely benign
NM_005401.5(PTPN14):c.3344C>T (p.Pro1115Leu) single nucleotide variant not provided [RCV000890231] Chr1:214364603 [GRCh38]
Chr1:214537946 [GRCh37]
Chr1:1q32.3		 benign
NM_005401.5(PTPN14):c.1253G>A (p.Ser418Asn) single nucleotide variant not provided [RCV000890506] Chr1:214384602 [GRCh38]
Chr1:214557945 [GRCh37]
Chr1:1q32.3		 benign|likely benign
NM_005401.5(PTPN14):c.2666C>T (p.Thr889Ile) single nucleotide variant Inborn genetic diseases [RCV002836509] Chr1:214377981 [GRCh38]
Chr1:214551324 [GRCh37]
Chr1:1q32.3		 uncertain significance
NM_005401.5(PTPN14):c.174+165G>A single nucleotide variant not provided [RCV001598135] Chr1:214464465 [GRCh38]
Chr1:214637808 [GRCh37]
Chr1:1q41		 benign
NM_005401.5(PTPN14):c.987+140T>G single nucleotide variant not provided [RCV001659269] Chr1:214390848 [GRCh38]
Chr1:214564191 [GRCh37]
Chr1:1q32.3		 benign
NM_005401.5(PTPN14):c.511-58A>G single nucleotide variant not provided [RCV001636209] Chr1:214403011 [GRCh38]
Chr1:214576354 [GRCh37]
Chr1:1q41		 benign
NM_005401.5(PTPN14):c.3271+132A>G single nucleotide variant not provided [RCV001688165] Chr1:214369325 [GRCh38]
Chr1:214542668 [GRCh37]
Chr1:1q32.3		 benign
NM_005401.5(PTPN14):c.581+147C>T single nucleotide variant not provided [RCV001608289] Chr1:214402736 [GRCh38]
Chr1:214576079 [GRCh37]
Chr1:1q41		 benign
NM_005401.5(PTPN14):c.2544+171A>T single nucleotide variant not provided [RCV001678202] Chr1:214383140 [GRCh38]
Chr1:214556483 [GRCh37]
Chr1:1q32.3		 benign
NM_005401.5(PTPN14):c.566A>G (p.Glu189Gly) single nucleotide variant PTPN14-related condition [RCV003976096]|not provided [RCV001721803] Chr1:214402898 [GRCh38]
Chr1:214576241 [GRCh37]
Chr1:1q41		 benign
NM_005401.5(PTPN14):c.175-114T>C single nucleotide variant not provided [RCV001677594] Chr1:214452088 [GRCh38]
Chr1:214625431 [GRCh37]
Chr1:1q41		 benign
NM_005401.5(PTPN14):c.987+154G>A single nucleotide variant not provided [RCV001677961] Chr1:214390834 [GRCh38]
Chr1:214564177 [GRCh37]
Chr1:1q32.3		 benign
NM_005401.5(PTPN14):c.988-28C>A single nucleotide variant not provided [RCV001638251] Chr1:214386950 [GRCh38]
Chr1:214560293 [GRCh37]
Chr1:1q32.3		 benign
NM_005401.5(PTPN14):c.1067-97T>C single nucleotide variant not provided [RCV001687483] Chr1:214384885 [GRCh38]
Chr1:214558228 [GRCh37]
Chr1:1q32.3		 benign
NM_005401.5(PTPN14):c.3252A>G (p.Glu1084=) single nucleotide variant Lymphedema-posterior choanal atresia syndrome [RCV001796681]|not provided [RCV001674759] Chr1:214369476 [GRCh38]
Chr1:214542819 [GRCh37]
Chr1:1q32.3		 benign
NM_005401.5(PTPN14):c.929+86T>C single nucleotide variant not provided [RCV001647834] Chr1:214393609 [GRCh38]
Chr1:214566952 [GRCh37]
Chr1:1q32.3		 benign
NM_005401.5(PTPN14):c.*186del deletion not provided [RCV001649817] Chr1:214357736 [GRCh38]
Chr1:214531079 [GRCh37]
Chr1:1q32.3		 benign
NM_005401.5(PTPN14):c.582-7A>G single nucleotide variant not provided [RCV001695042] Chr1:214401779 [GRCh38]
Chr1:214575122 [GRCh37]
Chr1:1q41		 benign
NM_005401.5(PTPN14):c.1919G>A (p.Arg640His) single nucleotide variant Tracheoesophageal fistula [RCV001172300] Chr1:214383936 [GRCh38]
Chr1:214557279 [GRCh37]
Chr1:1q32.3		 likely pathogenic
NM_005401.5(PTPN14):c.-154-136C>T single nucleotide variant not provided [RCV001649142] Chr1:214465093 [GRCh38]
Chr1:214638436 [GRCh37]
Chr1:1q41		 benign
NM_005401.5(PTPN14):c.2907+61G>A single nucleotide variant not provided [RCV001646021] Chr1:214376158 [GRCh38]
Chr1:214549501 [GRCh37]
Chr1:1q32.3		 benign
NM_005401.5(PTPN14):c.2908-302C>T single nucleotide variant not provided [RCV001710998] Chr1:214373141 [GRCh38]
Chr1:214546484 [GRCh37]
Chr1:1q32.3		 benign
NM_005401.5(PTPN14):c.759-142G>T single nucleotide variant not provided [RCV001709345] Chr1:214395128 [GRCh38]
Chr1:214568471 [GRCh37]
Chr1:1q32.3		 benign
NM_005401.5(PTPN14):c.929+193T>C single nucleotide variant not provided [RCV001669980] Chr1:214393502 [GRCh38]
Chr1:214566845 [GRCh37]
Chr1:1q32.3		 benign
NM_005401.5(PTPN14):c.758+5T>G single nucleotide variant Lymphedema-posterior choanal atresia syndrome [RCV001796700]|not provided [RCV001685304] Chr1:214397908 [GRCh38]
Chr1:214571251 [GRCh37]
Chr1:1q32.3		 benign
NM_005401.5(PTPN14):c.3272-268T>A single nucleotide variant not provided [RCV001534236] Chr1:214364943 [GRCh38]
Chr1:214538286 [GRCh37]
Chr1:1q32.3		 benign
NM_005401.5(PTPN14):c.929+24del deletion Lymphedema-posterior choanal atresia syndrome [RCV001796631]|not provided [RCV001641336] Chr1:214393671 [GRCh38]
Chr1:214567014 [GRCh37]
Chr1:1q32.3		 benign
GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3 copy number gain See cases [RCV001007407] Chr1:204045948..249218992 [GRCh37]
Chr1:1q32.1-44		 pathogenic
NM_005401.5(PTPN14):c.978A>G (p.Arg326=) single nucleotide variant Lymphedema-posterior choanal atresia syndrome [RCV001796630]|not provided [RCV001645177] Chr1:214390997 [GRCh38]
Chr1:214564340 [GRCh37]
Chr1:1q32.3		 benign
NM_005401.5(PTPN14):c.670-183G>C single nucleotide variant not provided [RCV001695729] Chr1:214398184 [GRCh38]
Chr1:214571527 [GRCh37]
Chr1:1q32.3		 benign
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44		 uncertain significance
NM_005401.5(PTPN14):c.*26G>A single nucleotide variant Lymphedema-posterior choanal atresia syndrome [RCV001796595]|not provided [RCV001538135] Chr1:214357896 [GRCh38]
Chr1:214531239 [GRCh37]
Chr1:1q32.3		 benign
NM_005401.5(PTPN14):c.3435+228G>A single nucleotide variant not provided [RCV001534294] Chr1:214364284 [GRCh38]
Chr1:214537627 [GRCh37]
Chr1:1q32.3		 benign
NM_005401.5(PTPN14):c.2688+26C>T single nucleotide variant Lymphedema-posterior choanal atresia syndrome [RCV001796669]|not provided [RCV001666657] Chr1:214377933 [GRCh38]
Chr1:214551276 [GRCh37]
Chr1:1q32.3		 benign
NM_005401.5(PTPN14):c.2545-181G>A single nucleotide variant not provided [RCV001681583] Chr1:214378283 [GRCh38]
Chr1:214551626 [GRCh37]
Chr1:1q32.3		 benign
NM_005401.5(PTPN14):c.-154-234T>C single nucleotide variant not provided [RCV001709399] Chr1:214465191 [GRCh38]
Chr1:214638534 [GRCh37]
Chr1:1q41		 benign
NM_005401.5(PTPN14):c.-154-94_-154-84del deletion not provided [RCV001682317] Chr1:214465041..214465051 [GRCh38]
Chr1:214638384..214638394 [GRCh37]
Chr1:1q41		 benign
NM_005401.5(PTPN14):c.174+91T>C single nucleotide variant not provided [RCV001680203] Chr1:214464539 [GRCh38]
Chr1:214637882 [GRCh37]
Chr1:1q41		 benign
NM_005401.5(PTPN14):c.930-54G>C single nucleotide variant not provided [RCV001673697] Chr1:214391099 [GRCh38]
Chr1:214564442 [GRCh37]
Chr1:1q32.3		 benign
NM_005401.5(PTPN14):c.2545-81A>G single nucleotide variant not provided [RCV001687639] Chr1:214378183 [GRCh38]
Chr1:214551526 [GRCh37]
Chr1:1q32.3		 benign
NM_005401.5(PTPN14):c.-154-119C>A single nucleotide variant not provided [RCV001678643] Chr1:214465076 [GRCh38]
Chr1:214638419 [GRCh37]
Chr1:1q41		 benign
NM_005401.5(PTPN14):c.-154-284A>T single nucleotide variant not provided [RCV001710628] Chr1:214465241 [GRCh38]
Chr1:214638584 [GRCh37]
Chr1:1q41		 benign
NM_005401.5(PTPN14):c.1066+3A>T single nucleotide variant not provided [RCV002254424] Chr1:214386841 [GRCh38]
Chr1:214560184 [GRCh37]
Chr1:1q32.3		 uncertain significance
Single allele duplication not provided [RCV002227747] Chr1:213953922..214511394 [GRCh38]
Chr1:1q32.3-41		 uncertain significance
NM_005401.5(PTPN14):c.679G>T (p.Gly227Ter) single nucleotide variant Lymphedema-posterior choanal atresia syndrome [RCV003130354] Chr1:214397992 [GRCh38]
Chr1:214571335 [GRCh37]
Chr1:1q32.3		 uncertain significance
NM_005401.5(PTPN14):c.*6320C>T single nucleotide variant Lymphedema-posterior choanal atresia syndrome [RCV003130355] Chr1:214351602 [GRCh38]
Chr1:214524945 [GRCh37]
Chr1:1q32.3		 uncertain significance
GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3 copy number gain See cases [RCV002287837] Chr1:197867914..249224684 [GRCh37]
Chr1:1q31.3-44		 pathogenic
NM_005401.5(PTPN14):c.2413G>A (p.Gly805Ser) single nucleotide variant Inborn genetic diseases [RCV003259452] Chr1:214383442 [GRCh38]
Chr1:214556785 [GRCh37]
Chr1:1q32.3		 uncertain significance
NM_005401.5(PTPN14):c.-154-22749A>G single nucleotide variant Lymphedema-posterior choanal atresia syndrome [RCV003130353] Chr1:214487706 [GRCh38]
Chr1:214661049 [GRCh37]
Chr1:1q41		 uncertain significance
NM_005401.5(PTPN14):c.3403G>A (p.Glu1135Lys) single nucleotide variant Inborn genetic diseases [RCV002731653] Chr1:214364544 [GRCh38]
Chr1:214537887 [GRCh37]
Chr1:1q32.3		 uncertain significance
NM_005401.5(PTPN14):c.2032G>A (p.Glu678Lys) single nucleotide variant Inborn genetic diseases [RCV002683746] Chr1:214383823 [GRCh38]
Chr1:214557166 [GRCh37]
Chr1:1q32.3		 uncertain significance
GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2 copy number loss Orofacial cleft 2 [RCV002481175] Chr1:228006998..228061271 [GRCh38]
Chr1:1q32.2-42.13		 association
NM_005401.5(PTPN14):c.3500T>C (p.Ile1167Thr) single nucleotide variant Inborn genetic diseases [RCV002974683]|Lymphedema-posterior choanal atresia syndrome [RCV003455756] Chr1:214357986 [GRCh38]
Chr1:214531329 [GRCh37]
Chr1:1q32.3		 uncertain significance
NM_005401.5(PTPN14):c.2859A>G (p.Ile953Met) single nucleotide variant Inborn genetic diseases [RCV002751784] Chr1:214376267 [GRCh38]
Chr1:214549610 [GRCh37]
Chr1:1q32.3		 uncertain significance
NM_005401.5(PTPN14):c.2596A>G (p.Met866Val) single nucleotide variant Inborn genetic diseases [RCV002974682]|Lymphedema-posterior choanal atresia syndrome [RCV003455755] Chr1:214378051 [GRCh38]
Chr1:214551394 [GRCh37]
Chr1:1q32.3		 uncertain significance
NM_005401.5(PTPN14):c.2325G>A (p.Met775Ile) single nucleotide variant Inborn genetic diseases [RCV002734001] Chr1:214383530 [GRCh38]
Chr1:214556873 [GRCh37]
Chr1:1q32.3		 uncertain significance
NM_005401.5(PTPN14):c.3311A>G (p.Asn1104Ser) single nucleotide variant Inborn genetic diseases [RCV002821491] Chr1:214364636 [GRCh38]
Chr1:214537979 [GRCh37]
Chr1:1q32.3		 uncertain significance
NM_005401.5(PTPN14):c.818A>G (p.Asn273Ser) single nucleotide variant Inborn genetic diseases [RCV002797646] Chr1:214394927 [GRCh38]
Chr1:214568270 [GRCh37]
Chr1:1q32.3		 uncertain significance
NM_005401.5(PTPN14):c.1636C>G (p.Gln546Glu) single nucleotide variant Inborn genetic diseases [RCV002799027] Chr1:214384219 [GRCh38]
Chr1:214557562 [GRCh37]
Chr1:1q32.3		 uncertain significance
NM_005401.5(PTPN14):c.1171G>A (p.Val391Ile) single nucleotide variant Inborn genetic diseases [RCV002926334] Chr1:214384684 [GRCh38]
Chr1:214558027 [GRCh37]
Chr1:1q32.3		 uncertain significance
NM_005401.5(PTPN14):c.1113C>A (p.His371Gln) single nucleotide variant Inborn genetic diseases [RCV002924832] Chr1:214384742 [GRCh38]
Chr1:214558085 [GRCh37]
Chr1:1q32.3		 uncertain significance
NM_005401.5(PTPN14):c.1577G>A (p.Ser526Asn) single nucleotide variant Inborn genetic diseases [RCV002742342] Chr1:214384278 [GRCh38]
Chr1:214557621 [GRCh37]
Chr1:1q32.3		 uncertain significance
NM_005401.5(PTPN14):c.2504C>T (p.Ser835Phe) single nucleotide variant Inborn genetic diseases [RCV002710040] Chr1:214383351 [GRCh38]
Chr1:214556694 [GRCh37]
Chr1:1q32.3		 uncertain significance
NM_005401.5(PTPN14):c.2446G>A (p.Val816Met) single nucleotide variant Inborn genetic diseases [RCV002827716] Chr1:214383409 [GRCh38]
Chr1:214556752 [GRCh37]
Chr1:1q32.3		 uncertain significance
NM_005401.5(PTPN14):c.737G>A (p.Gly246Glu) single nucleotide variant Inborn genetic diseases [RCV002764098] Chr1:214397934 [GRCh38]
Chr1:214571277 [GRCh37]
Chr1:1q32.3		 uncertain significance
NM_005401.5(PTPN14):c.419G>A (p.Arg140Gln) single nucleotide variant Inborn genetic diseases [RCV002805191] Chr1:214414652 [GRCh38]
Chr1:214587995 [GRCh37]
Chr1:1q41		 uncertain significance
NM_005401.5(PTPN14):c.3046C>T (p.Arg1016Ter) single nucleotide variant not provided [RCV003005376] Chr1:214369682 [GRCh38]
Chr1:214543025 [GRCh37]
Chr1:1q32.3		 pathogenic
NM_005401.5(PTPN14):c.2617C>T (p.Leu873Phe) single nucleotide variant Inborn genetic diseases [RCV002836235] Chr1:214378030 [GRCh38]
Chr1:214551373 [GRCh37]
Chr1:1q32.3		 uncertain significance
NM_005401.5(PTPN14):c.2065C>G (p.Leu689Val) single nucleotide variant Inborn genetic diseases [RCV002939668] Chr1:214383790 [GRCh38]
Chr1:214557133 [GRCh37]
Chr1:1q32.3		 uncertain significance
NM_005401.5(PTPN14):c.181T>C (p.Tyr61His) single nucleotide variant Inborn genetic diseases [RCV002897269] Chr1:214451968 [GRCh38]
Chr1:214625311 [GRCh37]
Chr1:1q41		 uncertain significance
NM_005401.5(PTPN14):c.2399A>G (p.Asn800Ser) single nucleotide variant Inborn genetic diseases [RCV002836183] Chr1:214383456 [GRCh38]
Chr1:214556799 [GRCh37]
Chr1:1q32.3		 uncertain significance
NM_005401.5(PTPN14):c.2000G>C (p.Arg667Pro) single nucleotide variant Inborn genetic diseases [RCV002941200] Chr1:214383855 [GRCh38]
Chr1:214557198 [GRCh37]
Chr1:1q32.3		 uncertain significance
NM_005401.5(PTPN14):c.455A>T (p.Asp152Val) single nucleotide variant Inborn genetic diseases [RCV002652751] Chr1:214411739 [GRCh38]
Chr1:214585082 [GRCh37]
Chr1:1q41		 uncertain significance
NM_005401.5(PTPN14):c.2287G>T (p.Ala763Ser) single nucleotide variant Inborn genetic diseases [RCV003280794] Chr1:214383568 [GRCh38]
Chr1:214556911 [GRCh37]
Chr1:1q32.3		 uncertain significance
NM_005401.5(PTPN14):c.1712C>A (p.Pro571Gln) single nucleotide variant Inborn genetic diseases [RCV003172946] Chr1:214384143 [GRCh38]
Chr1:214557486 [GRCh37]
Chr1:1q32.3		 uncertain significance
NM_005401.5(PTPN14):c.569A>G (p.His190Arg) single nucleotide variant Inborn genetic diseases [RCV003205085] Chr1:214402895 [GRCh38]
Chr1:214576238 [GRCh37]
Chr1:1q41		 uncertain significance
NM_005401.5(PTPN14):c.1966A>G (p.Met656Val) single nucleotide variant Inborn genetic diseases [RCV003194964] Chr1:214383889 [GRCh38]
Chr1:214557232 [GRCh37]
Chr1:1q32.3		 uncertain significance
NM_005401.5(PTPN14):c.-154-42562G>A single nucleotide variant Lymphedema-posterior choanal atresia syndrome [RCV003135161] Chr1:214507519 [GRCh38]
Chr1:214680862 [GRCh37]
Chr1:1q41		 uncertain significance
NM_005401.5(PTPN14):c.2758A>C (p.Lys920Gln) single nucleotide variant Inborn genetic diseases [RCV003207691] Chr1:214376368 [GRCh38]
Chr1:214549711 [GRCh37]
Chr1:1q32.3		 uncertain significance
NM_005401.5(PTPN14):c.898A>G (p.Lys300Glu) single nucleotide variant Inborn genetic diseases [RCV003183119] Chr1:214393726 [GRCh38]
Chr1:214567069 [GRCh37]
Chr1:1q32.3		 uncertain significance
NM_005401.5(PTPN14):c.2578G>A (p.Ala860Thr) single nucleotide variant Inborn genetic diseases [RCV003370043] Chr1:214378069 [GRCh38]
Chr1:214551412 [GRCh37]
Chr1:1q32.3		 uncertain significance
NM_005401.5(PTPN14):c.782C>T (p.Thr261Ile) single nucleotide variant Inborn genetic diseases [RCV003374109] Chr1:214394963 [GRCh38]
Chr1:214568306 [GRCh37]
Chr1:1q32.3		 uncertain significance
NM_005401.5(PTPN14):c.2566G>C (p.Ala856Pro) single nucleotide variant Inborn genetic diseases [RCV003384050] Chr1:214378081 [GRCh38]
Chr1:214551424 [GRCh37]
Chr1:1q32.3		 uncertain significance
NM_005401.5(PTPN14):c.715A>T (p.Ile239Phe) single nucleotide variant Lymphedema-posterior choanal atresia syndrome [RCV003455870] Chr1:214397956 [GRCh38]
Chr1:214571299 [GRCh37]
Chr1:1q32.3		 uncertain significance
NM_005401.5(PTPN14):c.1574C>T (p.Pro525Leu) single nucleotide variant Lymphedema-posterior choanal atresia syndrome [RCV003455882] Chr1:214384281 [GRCh38]
Chr1:214557624 [GRCh37]
Chr1:1q32.3		 uncertain significance
NM_005401.5(PTPN14):c.2164C>T (p.Pro722Ser) single nucleotide variant Lymphedema-posterior choanal atresia syndrome [RCV003455884] Chr1:214383691 [GRCh38]
Chr1:214557034 [GRCh37]
Chr1:1q32.3		 uncertain significance
NM_005401.5(PTPN14):c.139C>T (p.Leu47=) single nucleotide variant PTPN14-related condition [RCV003899231] Chr1:214464665 [GRCh38]
Chr1:214638008 [GRCh37]
Chr1:1q41		 likely benign
NM_005401.5(PTPN14):c.1563T>C (p.Asn521=) single nucleotide variant PTPN14-related condition [RCV003911650] Chr1:214384292 [GRCh38]
Chr1:214557635 [GRCh37]
Chr1:1q32.3		 likely benign
NM_005401.5(PTPN14):c.1152C>A (p.Thr384=) single nucleotide variant PTPN14-related condition [RCV003974256] Chr1:214384703 [GRCh38]
Chr1:214558046 [GRCh37]
Chr1:1q32.3		 likely benign
NM_005401.5(PTPN14):c.1471C>T (p.Arg491Trp) single nucleotide variant PTPN14-related condition [RCV003931981] Chr1:214384384 [GRCh38]
Chr1:214557727 [GRCh37]
Chr1:1q32.3		 likely benign
NM_005401.5(PTPN14):c.3137C>G (p.Thr1046Arg) single nucleotide variant not provided [RCV003885885] Chr1:214369591 [GRCh38]
Chr1:214542934 [GRCh37]
Chr1:1q32.3		 likely benign
NM_005401.5(PTPN14):c.1515C>T (p.Val505=) single nucleotide variant PTPN14-related condition [RCV003929815] Chr1:214384340 [GRCh38]
Chr1:214557683 [GRCh37]
Chr1:1q32.3		 likely benign
NM_005401.5(PTPN14):c.1067-4G>A single nucleotide variant PTPN14-related condition [RCV003904085] Chr1:214384792 [GRCh38]
Chr1:214558135 [GRCh37]
Chr1:1q32.3		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4996
Count of miRNA genes:1406
Interacting mature miRNAs:1886
Transcripts:ENST00000366956, ENST00000473261, ENST00000486173, ENST00000491277, ENST00000543945
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
D1S419  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371214,538,065 - 214,538,238UniSTSGRCh37
Build 361212,604,688 - 212,604,861RGDNCBI36
Celera1187,760,882 - 187,761,055RGD
Cytogenetic Map1q32.2UniSTS
HuRef1185,213,189 - 185,213,362UniSTS
Marshfield Genetic Map1232.81RGD
Marshfield Genetic Map1232.81UniSTS
Genethon Genetic Map1237.2UniSTS
deCODE Assembly Map1218.25UniSTS
Whitehead-YAC Contig Map1 UniSTS
A009Q27  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371214,522,142 - 214,522,267UniSTSGRCh37
Build 361212,588,765 - 212,588,890RGDNCBI36
Celera1187,745,025 - 187,745,150RGD
Cytogenetic Map1q32.2UniSTS
HuRef1185,197,263 - 185,197,388UniSTS
GeneMap99-GB4 RH Map1700.27UniSTS
NCBI RH Map11887.3UniSTS
SHGC-76338  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371214,639,690 - 214,639,839UniSTSGRCh37
Build 361212,706,313 - 212,706,462RGDNCBI36
Celera1187,863,129 - 187,863,278RGD
Cytogenetic Map1q32.2UniSTS
HuRef1185,314,651 - 185,314,800UniSTS
TNG Radiation Hybrid Map1106048.0UniSTS
GeneMap99-GB4 RH Map1699.03UniSTS
GeneMap99-GB4 RH Map1699.13UniSTS
Whitehead-RH Map1854.9UniSTS
NCBI RH Map11891.0UniSTS
D1S2195  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371214,522,057 - 214,522,183UniSTSGRCh37
Build 361212,588,680 - 212,588,806RGDNCBI36
Celera1187,744,940 - 187,745,066RGD
Cytogenetic Map1q32.2UniSTS
HuRef1185,197,178 - 185,197,304UniSTS
TNG Radiation Hybrid Map1105981.0UniSTS
GeneMap99-GB4 RH Map1699.07UniSTS
GeneMap99-GB4 RH Map1698.24UniSTS
Whitehead-RH Map1853.3UniSTS
Whitehead-YAC Contig Map1 UniSTS
NCBI RH Map11890.4UniSTS
AL034163  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371214,649,907 - 214,650,044UniSTSGRCh37
Build 361212,716,530 - 212,716,667RGDNCBI36
Celera1187,873,347 - 187,873,484RGD
Cytogenetic Map1q32.2UniSTS
HuRef1185,324,871 - 185,325,008UniSTS
RH122727  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371214,678,395 - 214,678,705UniSTSGRCh37
Build 361212,745,018 - 212,745,328RGDNCBI36
Celera1187,901,807 - 187,902,117RGD
Cytogenetic Map1q32.2UniSTS
HuRef1185,353,586 - 185,353,896UniSTS
TNG Radiation Hybrid Map1106070.0UniSTS
SHGC-149569  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371214,599,959 - 214,600,233UniSTSGRCh37
Build 361212,666,582 - 212,666,856RGDNCBI36
Celera1187,822,771 - 187,823,045RGD
Cytogenetic Map1q32.2UniSTS
HuRef1185,274,984 - 185,275,258UniSTS
TNG Radiation Hybrid Map1106032.0UniSTS
PMC166143P2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371214,656,544 - 214,656,640UniSTSGRCh37
Build 361212,723,167 - 212,723,263RGDNCBI36
Celera1655,638,737 - 55,638,829UniSTS
Celera1187,879,986 - 187,880,082RGD
Cytogenetic Map5q22UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map1q32.2UniSTS
HuRef1185,331,516 - 185,331,612UniSTS
HuRef1657,091,424 - 57,091,516UniSTS
D1S1778E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371214,522,116 - 214,522,186UniSTSGRCh37
Build 361212,588,739 - 212,588,809RGDNCBI36
Celera1187,744,999 - 187,745,069RGD
Cytogenetic Map1q32.2UniSTS
TNG Radiation Hybrid Map1105998.0UniSTS
GeneMap99-GB4 RH Map1699.13UniSTS
NCBI RH Map11884.8UniSTS
STS-X82676  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371214,531,138 - 214,531,270UniSTSGRCh37
Build 361212,597,761 - 212,597,893RGDNCBI36
Celera1187,753,953 - 187,754,085RGD
Cytogenetic Map1q32.2UniSTS
HuRef1185,206,260 - 185,206,392UniSTS
GeneMap99-GB4 RH Map1698.45UniSTS
NCBI RH Map11883.7UniSTS
SHGC-76337  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371214,531,117 - 214,531,264UniSTSGRCh37
Build 361212,597,740 - 212,597,887RGDNCBI36
Celera1187,753,932 - 187,754,079RGD
Cytogenetic Map1q32.2UniSTS
HuRef1185,206,239 - 185,206,386UniSTS
TNG Radiation Hybrid Map1105981.0UniSTS
GeneMap99-GB4 RH Map1700.27UniSTS
NCBI RH Map11887.3UniSTS
PTPN14_2926  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371214,530,856 - 214,531,415UniSTSGRCh37
Build 361212,597,479 - 212,598,038RGDNCBI36
Celera1187,753,671 - 187,754,230RGD
HuRef1185,205,978 - 185,206,537UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5q14.2UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map5q32-q34UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map8p22-p21UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map16p11.2UniSTS
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Cytogenetic Map12p11.21UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map3p26.3UniSTS
Cytogenetic Map2q11.1UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic MapXp21.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3q24UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map14q11.2-q12UniSTS
Cytogenetic Map3p24UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map4p13-p12UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map9q31-q34UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS
G32781  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371214,522,142 - 214,522,267UniSTSGRCh37
Celera1187,745,025 - 187,745,150UniSTS
Cytogenetic Map1q32.2UniSTS
HuRef1185,197,263 - 185,197,388UniSTS
D1S1425  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map4q21.23UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map8q12.1UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map6q25.2-q25.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map2p23-p22UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map17q22-q23UniSTS
Cytogenetic Map2p11.1UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map2p12-p11.2UniSTS
Cytogenetic Map3q11.1UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map1p21.3UniSTS
Cytogenetic Map1q32.2UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map18p11.3-p11.2UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map17q22-q23.2UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map3p21.1-p14.2UniSTS
Cytogenetic Map2p24UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map12q24.32UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map15q11-q12UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map15q21.1-q21.2UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map12p13.33UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map19q13.33-q13.41UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map4q31.21UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map10p15-p14UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map3q12.1UniSTS
Cytogenetic Map15q24-q25UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map6pter-p12.1UniSTS
Cytogenetic Map6q16UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map11q23.1-q23.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map16q24.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic MapXq21.1UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 976 1078 173 58 43 23 3132 1073 592 149 539 313 48 356 2134 4
Low 1452 1149 1309 322 839 198 1225 1115 2853 269 920 1260 127 1 848 654 2 2
Below cutoff 11 753 244 244 1043 244 9 289 1 1 40

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_028036 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005401 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017001941 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448759 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047426367 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047426370 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047426374 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337939 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337940 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337941 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337942 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF086517 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK056963 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK090596 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291641 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL445305 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL592216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL603838 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL929236 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW192897 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC017300 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC101754 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC104803 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX538306 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA738908 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ116785 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ116786 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X82676 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z23491 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000366956   ⟹   ENSP00000355923
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1214,348,700 - 214,551,602 (-)Ensembl
RefSeq Acc Id: ENST00000473261
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1214,372,246 - 214,376,406 (-)Ensembl
RefSeq Acc Id: ENST00000486173
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1214,464,702 - 214,552,449 (-)Ensembl
RefSeq Acc Id: ENST00000491277
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1214,528,276 - 214,551,602 (-)Ensembl
RefSeq Acc Id: ENST00000543945   ⟹   ENSP00000443330
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1214,357,751 - 214,551,223 (-)Ensembl
RefSeq Acc Id: NM_005401   ⟹   NP_005392
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381214,348,700 - 214,551,602 (-)NCBI
GRCh371214,521,640 - 214,725,024 (-)NCBI
Build 361212,597,634 - 212,791,265 (-)NCBI Archive
HuRef1185,197,160 - 185,400,149 (-)ENTREZGENE
CHM1_11215,794,413 - 215,997,321 (-)NCBI
T2T-CHM13v2.01213,588,194 - 213,791,163 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017001941   ⟹   XP_016857430
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381214,348,700 - 214,551,602 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024448759   ⟹   XP_024304527
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381214,348,700 - 214,551,602 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047426367   ⟹   XP_047282323
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381214,348,700 - 214,551,602 (-)NCBI
RefSeq Acc Id: XM_047426370   ⟹   XP_047282326
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381214,348,700 - 214,551,602 (-)NCBI
RefSeq Acc Id: XM_047426374   ⟹   XP_047282330
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381214,348,700 - 214,476,770 (-)NCBI
RefSeq Acc Id: XM_054337939   ⟹   XP_054193914
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01213,588,194 - 213,791,283 (-)NCBI
RefSeq Acc Id: XM_054337940   ⟹   XP_054193915
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01213,588,194 - 213,791,163 (-)NCBI
RefSeq Acc Id: XM_054337941   ⟹   XP_054193916
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01213,588,194 - 213,791,163 (-)NCBI
RefSeq Acc Id: XM_054337942   ⟹   XP_054193917
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01213,588,194 - 213,718,436 (-)NCBI
RefSeq Acc Id: XM_054337943   ⟹   XP_054193918
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01213,588,194 - 213,791,163 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_005392   ⟸   NM_005401
- UniProtKB: Q5VSI0 (UniProtKB/Swiss-Prot),   Q15678 (UniProtKB/Swiss-Prot),   A8K6H6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016857430   ⟸   XM_017001941
- Peptide Label: isoform X1
- UniProtKB: Q5VSI0 (UniProtKB/Swiss-Prot),   Q15678 (UniProtKB/Swiss-Prot),   A8K6H6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024304527   ⟸   XM_024448759
- Peptide Label: isoform X1
- UniProtKB: Q15678 (UniProtKB/Swiss-Prot),   Q5VSI0 (UniProtKB/Swiss-Prot),   A8K6H6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000443330   ⟸   ENST00000543945
RefSeq Acc Id: ENSP00000355923   ⟸   ENST00000366956
RefSeq Acc Id: XP_047282323   ⟸   XM_047426367
- Peptide Label: isoform X1
- UniProtKB: Q15678 (UniProtKB/Swiss-Prot),   Q5VSI0 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047282326   ⟸   XM_047426370
- Peptide Label: isoform X1
- UniProtKB: Q15678 (UniProtKB/Swiss-Prot),   Q5VSI0 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047282330   ⟸   XM_047426374
- Peptide Label: isoform X1
- UniProtKB: Q15678 (UniProtKB/Swiss-Prot),   Q5VSI0 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054193914   ⟸   XM_054337939
- Peptide Label: isoform X1
- UniProtKB: Q15678 (UniProtKB/Swiss-Prot),   Q5VSI0 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054193916   ⟸   XM_054337941
- Peptide Label: isoform X1
- UniProtKB: Q15678 (UniProtKB/Swiss-Prot),   Q5VSI0 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054193918   ⟸   XM_054337943
- Peptide Label: isoform X1
- UniProtKB: Q15678 (UniProtKB/Swiss-Prot),   Q5VSI0 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054193915   ⟸   XM_054337940
- Peptide Label: isoform X1
- UniProtKB: Q15678 (UniProtKB/Swiss-Prot),   Q5VSI0 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054193917   ⟸   XM_054337942
- Peptide Label: isoform X1
- UniProtKB: Q15678 (UniProtKB/Swiss-Prot),   Q5VSI0 (UniProtKB/Swiss-Prot)
Protein Domains
FERM   Tyrosine specific protein phosphatases   Tyrosine-protein phosphatase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q15678-F1-model_v2 AlphaFold Q15678 1-1187 view protein structure

Promoters
RGD ID:6786346
Promoter ID:HG_KWN:7307
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Lymphoblastoid
Transcripts:NM_005401,   OTTHUMT00000089919
Position:
Human AssemblyChrPosition (strand)Source
Build 361212,791,551 - 212,792,277 (-)MPROMDB
RGD ID:6858976
Promoter ID:EPDNEW_H2652
Type:initiation region
Name:PTPN14_3
Description:protein tyrosine phosphatase, non-receptor type 14
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2653  EPDNEW_H2654  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381214,482,769 - 214,482,829EPDNEW
RGD ID:6858978
Promoter ID:EPDNEW_H2653
Type:initiation region
Name:PTPN14_2
Description:protein tyrosine phosphatase, non-receptor type 14
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2652  EPDNEW_H2654  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381214,551,228 - 214,551,288EPDNEW
RGD ID:6858980
Promoter ID:EPDNEW_H2654
Type:initiation region
Name:PTPN14_1
Description:protein tyrosine phosphatase, non-receptor type 14
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2652  EPDNEW_H2653  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381214,551,602 - 214,551,662EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9647 AgrOrtholog
COSMIC PTPN14 COSMIC
Ensembl Genes ENSG00000152104 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000366956 ENTREZGENE
  ENST00000366956.10 UniProtKB/Swiss-Prot
  ENST00000543945.5 UniProtKB/TrEMBL
Gene3D-CATH 1.20.80.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.30.29.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.90.190.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000152104 GTEx
HGNC ID HGNC:9647 ENTREZGENE
Human Proteome Map PTPN14 Human Proteome Map
InterPro Band_41_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM/acyl-CoA-bd_prot_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM_central UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM_PH-like_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Prot-tyrosine_phosphatase-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTP_non-rcpt_14/21 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTPase_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTPN14/21_FERM_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tyr_Pase_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tyr_Pase_cat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TYR_PHOSPHATASE_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ubiquitin-like_domsf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5784 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 5784 ENTREZGENE
OMIM 603155 OMIM
PANTHER TYROSINE-PROTEIN PHOSPHATASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TYROSINE-PROTEIN PHOSPHATASE NON-RECEPTOR TYPE 14 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam FERM_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM_M UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Y_phosphatase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33989 PharmGKB
PIRSF Tyr-Ptase_nr14 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS BAND41 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PRTYPHPHTASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE FERM_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TYR_PHOSPHATASE_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TYR_PHOSPHATASE_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TYR_PHOSPHATASE_PTP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART B41 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTPc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTPc_motif UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP PH domain-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF47031 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF52799 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF54236 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8K6H6 ENTREZGENE, UniProtKB/TrEMBL
  E2J9M0_HUMAN UniProtKB/TrEMBL
  PTN14_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q5VSI0 ENTREZGENE
  Q6PJC3_HUMAN UniProtKB/TrEMBL
UniProt Secondary Q5VSI0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-02-19 PTPN14  protein tyrosine phosphatase non-receptor type 14    protein tyrosine phosphatase, non-receptor type 14  Symbol and/or name change 5135510 APPROVED