PRAMEF14 (PRAME family member 14) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Gene: PRAMEF14 (PRAME family member 14) Homo sapiens
Analyze
No known orthologs.
Symbol: PRAMEF14
Name: PRAME family member 14
RGD ID: 1606052
HGNC Page HGNC:13576
Description: Predicted to be involved in several processes, including negative regulation of DNA-templated transcription; negative regulation of apoptotic process; and positive regulation of cell population proliferation. Predicted to be active in cytoplasm.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: PRAME family member 13; PRAMEF13
RGD Orthologs
Alliance Genes
More Info homologs ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38113,341,892 - 13,347,134 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl113,341,892 - 13,347,134 (-)EnsemblGRCh38hg38GRCh38
GRCh37113,668,269 - 13,673,511 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36113,540,856 - 13,546,098 (-)NCBINCBI36Build 36hg18NCBI36
Celera111,964,054 - 11,969,151 (+)NCBICelera
Cytogenetic Map1p36.21NCBI
HuRef112,183,324 - 12,194,098 (-)NCBIHuRef
CHM1_1113,467,134 - 13,472,376 (-)NCBICHM1_1
T2T-CHM13v2.0112,783,099 - 12,788,341 (-)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
cadmium atom  (EXP)
propanal  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IBA,IEA)

References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:16710414   PMID:21873635  


Genomics

Variants

.
Variants in PRAMEF14
4 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1p36.21-36.13(chr1:12724785-16034788)x1 copy number loss See cases [RCV000137720] Chr1:12724785..16034788 [GRCh38]
Chr1:12784752..16361283 [GRCh37]
Chr1:12707339..16233870 [NCBI36]
Chr1:1p36.21-36.13		 pathogenic
GRCh38/hg38 1p36.21(chr1:12627415-13993978)x3 copy number gain See cases [RCV000138029] Chr1:12627415..13993978 [GRCh38]
Chr1:12687421..14320473 [GRCh37]
Chr1:12610008..14193060 [NCBI36]
Chr1:1p36.21		 likely pathogenic
GRCh38/hg38 1p36.31-36.21(chr1:6303641-15799093)x1 copy number loss See cases [RCV000137948] Chr1:6303641..15799093 [GRCh38]
Chr1:6363701..16125588 [GRCh37]
Chr1:6286288..15998175 [NCBI36]
Chr1:1p36.31-36.21		 pathogenic|likely benign
GRCh38/hg38 1p36.22-36.21(chr1:9428538-15815791)x1 copy number loss See cases [RCV000140873] Chr1:9428538..15815791 [GRCh38]
Chr1:9488597..16142286 [GRCh37]
Chr1:9411184..16014873 [NCBI36]
Chr1:1p36.22-36.21		 pathogenic
GRCh38/hg38 1p36.22-36.21(chr1:11021751-15236671)x3 copy number gain See cases [RCV000141823] Chr1:11021751..15236671 [GRCh38]
Chr1:11081808..15563167 [GRCh37]
Chr1:11004395..15435754 [NCBI36]
Chr1:1p36.22-36.21		 likely pathogenic
GRCh38/hg38 1p36.22-36.21(chr1:10264397-15780840)x1 copy number loss See cases [RCV000141438] Chr1:10264397..15780840 [GRCh38]
Chr1:10324455..16107335 [GRCh37]
Chr1:10247042..15979922 [NCBI36]
Chr1:1p36.22-36.21		 pathogenic
GRCh38/hg38 1p36.31-36.13(chr1:6554885-16056011)x3 copy number gain See cases [RCV000142906] Chr1:6554885..16056011 [GRCh38]
Chr1:6614945..16382506 [GRCh37]
Chr1:6537532..16255093 [NCBI36]
Chr1:1p36.31-36.13		 pathogenic
GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1 copy number loss See cases [RCV000142771] Chr1:5363826..18360302 [GRCh38]
Chr1:5423886..18686796 [GRCh37]
Chr1:5323746..18559383 [NCBI36]
Chr1:1p36.31-36.13		 pathogenic
GRCh38/hg38 1p36.31-36.13(chr1:6853513-17326813)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051795]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051795]|See cases [RCV000051795] Chr1:6853513..17326813 [GRCh38]
Chr1:6913573..17685411 [GRCh37]
Chr1:6836160..17557998 [NCBI36]
Chr1:1p36.31-36.13		 pathogenic
GRCh38/hg38 1p36.21-36.12(chr1:13110797-20670207)x3 copy number gain See cases [RCV000051797] Chr1:13110797..20670207 [GRCh38]
Chr1:13178269..20996700 [GRCh37]
Chr1:13100856..20869287 [NCBI36]
Chr1:1p36.21-36.12		 pathogenic
GRCh38/hg38 1p36.23-36.13(chr1:9034671-16441465)x1 copy number loss See cases [RCV000053756] Chr1:9034671..16441465 [GRCh38]
Chr1:9094730..16767960 [GRCh37]
Chr1:9017317..16640547 [NCBI36]
Chr1:1p36.23-36.13		 pathogenic
GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1 copy number loss See cases [RCV000053714] Chr1:3006193..17688934 [GRCh38]
Chr1:2922757..18015429 [GRCh37]
Chr1:2912617..17888016 [NCBI36]
Chr1:1p36.32-36.13		 pathogenic
GRCh38/hg38 1p36.22-36.12(chr1:10556797-22557907)x1 copy number loss See cases [RCV000053760] Chr1:10556797..22557907 [GRCh38]
Chr1:10616854..22884400 [GRCh37]
Chr1:10539441..22756987 [NCBI36]
Chr1:1p36.22-36.12		 pathogenic
GRCh38/hg38 1p36.22-36.13(chr1:10621776-16520709)x1 copy number loss See cases [RCV000053763] Chr1:10621776..16520709 [GRCh38]
Chr1:10681833..16847204 [GRCh37]
Chr1:10604420..16719791 [NCBI36]
Chr1:1p36.22-36.13		 pathogenic
GRCh38/hg38 1p36.22-36.13(chr1:10809039-16422500)x1 copy number loss See cases [RCV000053765] Chr1:10809039..16422500 [GRCh38]
Chr1:10869096..16748995 [GRCh37]
Chr1:10791683..16621582 [NCBI36]
Chr1:1p36.22-36.13		 pathogenic
GRCh38/hg38 1p36.22-36.13(chr1:11121625-16324498)x1 copy number loss See cases [RCV000053766] Chr1:11121625..16324498 [GRCh38]
Chr1:11181682..16650993 [GRCh37]
Chr1:11104269..16523580 [NCBI36]
Chr1:1p36.22-36.13		 pathogenic
GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3 copy number gain Trisomy 12p [RCV003447845] Chr1:99125..34026935 [GRCh38]
Chr1:1p36.33-35.1		 pathogenic
NC_000001.11:g.10115497_16283149dup duplication not specified [RCV002286386] Chr1:10115497..16283149 [GRCh38]
Chr1:1p36.22-36.13		 likely pathogenic
NM_001024661.2(PRAMEF14):c.1067T>G (p.Leu356Trp) single nucleotide variant Inborn genetic diseases [RCV002781664] Chr1:13342886 [GRCh38]
Chr1:13669263 [GRCh37]
Chr1:1p36.21		 uncertain significance
NM_001024661.2(PRAMEF14):c.1270C>T (p.Arg424Cys) single nucleotide variant Inborn genetic diseases [RCV002960594] Chr1:13342683 [GRCh38]
Chr1:13669060 [GRCh37]
Chr1:1p36.21		 uncertain significance
NM_001024661.2(PRAMEF14):c.942C>T (p.Ser314=) single nucleotide variant not provided [RCV003422625] Chr1:13343011 [GRCh38]
Chr1:13669388 [GRCh37]
Chr1:1p36.21		 likely benign
NM_001024661.2(PRAMEF14):c.1362C>T (p.Pro454=) single nucleotide variant not provided [RCV003422624] Chr1:13342591 [GRCh38]
Chr1:13668968 [GRCh37]
Chr1:1p36.21		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:406
Count of miRNA genes:291
Interacting mature miRNAs:305
Transcripts:ENST00000334600, ENST00000344998, ENST00000602491
Prediction methods:Miranda, Rnahybrid
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
D1S2582  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37113,691,368 - 13,691,586UniSTSGRCh37
GRCh37113,470,532 - 13,470,750UniSTSGRCh37
Build 36113,343,119 - 13,343,337RGDNCBI36
Cytogenetic Map1p36.21UniSTS
HuRef112,207,816 - 12,208,034UniSTS
Stanford-G3 RH Map1716.0UniSTS
RH102749  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1p36.21UniSTS
GeneMap99-GB4 RH Map151.31UniSTS


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 adipose tissue appendage
High
Medium 1
Low 2 4 2 3 8 178 1 1
Below cutoff 97 122 77 32 61 26 154 110 95 6 250 55 6 31 112

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000334600   ⟹   ENSP00000334410
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl113,341,892 - 13,347,134 (-)Ensembl
RefSeq Acc Id: ENST00000602491
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl113,342,034 - 13,343,840 (-)Ensembl
RefSeq Acc Id: NM_001024661   ⟹   NP_001019832
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38113,341,892 - 13,347,134 (-)NCBI
CHM1_1113,467,134 - 13,472,376 (-)NCBI
T2T-CHM13v2.0112,783,099 - 12,788,341 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001019832 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000334410
  ENSP00000334410.5
GenBank Protein Q5SWL7 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_001019832   ⟸   NM_001024661
- UniProtKB: Q5SWL7 (UniProtKB/Swiss-Prot),   A6NFR9 (UniProtKB/TrEMBL),   B3KWQ4 (UniProtKB/TrEMBL),   B7ZM17 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000334410   ⟸   ENST00000334600

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q5SWL7-F1-model_v2 AlphaFold Q5SWL7 1-474 view protein structure


Additional Information

Database Acc Id Source(s)
COSMIC PRAMEF14 COSMIC
Ensembl Genes ENSG00000204481 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000334600 ENTREZGENE
  ENST00000334600.7 UniProtKB/Swiss-Prot
Gene3D-CATH 3.80.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000204481 GTEx
HGNC ID HGNC:13576 ENTREZGENE
Human Proteome Map PRAMEF14 Human Proteome Map
InterPro LRR_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PRAME_family UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:729528 UniProtKB/Swiss-Prot
NCBI Gene 729528 ENTREZGENE
PANTHER PRAME FAMILY MEMBER 1-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SIMILAR TO PREFERENTIALLY EXPRESSED ANTIGEN IN MELANOMA-LIKE 3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA145148171 PharmGKB
PIRSF PRAME UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP RNI-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A6NFR9 ENTREZGENE
  B3KWQ4 ENTREZGENE, UniProtKB/TrEMBL
  B7ZM17 ENTREZGENE
  PRA14_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A6NFR9 UniProtKB/Swiss-Prot