PRAMEF8 (PRAME family member 8) - Rat Genome Database

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Gene: PRAMEF8 (PRAME family member 8) Homo sapiens
Analyze
Symbol: PRAMEF8
Name: PRAME family member 8
RGD ID: 1604149
HGNC Page HGNC:24074
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: PRAMEF24; putative PRAME family member 24
RGD Orthologs
Rat
Pig
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
GRCh38113,281,304 - 13,285,137 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl113,281,304 - 13,285,137 (-)EnsemblGRCh38hg38GRCh38
GRCh37113,607,700 - 13,611,533 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36113,259,233 - 13,263,352 (-)NCBINCBI36Build 36hg18NCBI36
Cytogenetic Map1p36.21NCBI
HuRef112,098,043 - 12,102,162 (+)NCBIHuRef
CHM1_1113,406,546 - 13,410,379 (-)NCBICHM1_1
T2T-CHM13v2.0112,722,538 - 12,726,371 (-)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
cytoplasm  (IBA)

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:12477932   PMID:16710414   PMID:21873635   PMID:25011449   PMID:33961781  


Genomics

Comparative Map Data
PRAMEF8
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38113,281,304 - 13,285,137 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl113,281,304 - 13,285,137 (-)EnsemblGRCh38hg38GRCh38
GRCh37113,607,700 - 13,611,533 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36113,259,233 - 13,263,352 (-)NCBINCBI36Build 36hg18NCBI36
Cytogenetic Map1p36.21NCBI
HuRef112,098,043 - 12,102,162 (+)NCBIHuRef
CHM1_1113,406,546 - 13,410,379 (-)NCBICHM1_1
T2T-CHM13v2.0112,722,538 - 12,726,371 (-)NCBIT2T-CHM13v2.0
Pramef8
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr85161,061,444 - 161,077,222 (+)NCBIGRCr8
mRatBN7.25155,778,156 - 155,793,935 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl5155,778,201 - 155,793,932 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx5158,462,437 - 158,478,210 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.05160,235,751 - 160,251,526 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.05160,191,830 - 160,207,767 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.05162,183,397 - 162,197,119 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl5162,183,327 - 162,199,050 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.05165,877,921 - 165,891,643 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45162,318,746 - 162,332,911 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera5154,085,021 - 154,098,116 (+)NCBICelera
Cytogenetic Map5q36NCBI
LOC100516915
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1672,765,442 - 72,768,567 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2666,894,554 - 66,898,503 (-)NCBISscrofa10.2Sscrofa10.2susScr3


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
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 1p36.32-36.13(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 1p36.23-36.13(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 1p36.21-36.13(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 1p36.21(chr1:12852720-13330100)x1 copy number loss See cases [RCV000139263] Chr1:12852720..13330100 [GRCh38]
Chr1:12912573..13448340 [GRCh37]
Chr1:12835160..13320927 [NCBI36]
Chr1:1p36.21		 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
Single allele complex Breast ductal adenocarcinoma [RCV000207058] Chr1:909238..24706269 [GRCh37]
Chr1:1p36.33-36.11		 uncertain significance
chr1:909238-16736132 complex variant complex Breast ductal adenocarcinoma [RCV000207094] Chr1:909238..16736132 [GRCh37]
Chr1:1p36.33-36.13		 uncertain significance
GRCh37/hg19 1p36.33-36.21(chr1:746608-15077159)x1 copy number loss See cases [RCV000240403] Chr1:746608..15077159 [GRCh37]
Chr1:1p36.33-36.21		 pathogenic
GRCh37/hg19 1p36.32-36.12(chr1:2749920-22564787)x1 copy number loss See cases [RCV000446470] Chr1:2749920..22564787 [GRCh37]
Chr1:1p36.32-36.12		 pathogenic
GRCh37/hg19 1p36.21-36.13(chr1:13178371-19961858)x1 copy number loss See cases [RCV000447987] Chr1:13178371..19961858 [GRCh37]
Chr1:1p36.21-36.13		 pathogenic
GRCh37/hg19 1p36.22-36.21(chr1:11143298-13709344)x3 copy number gain See cases [RCV000510407] Chr1:11143298..13709344 [GRCh37]
Chr1:1p36.22-36.21		 uncertain significance
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
GRCh37/hg19 1p36.22-36.21(chr1:10722725-14267773)x1 copy number loss See cases [RCV000512501] Chr1:10722725..14267773 [GRCh37]
Chr1:1p36.22-36.21		 likely pathogenic
GRCh37/hg19 1p36.23-36.13(chr1:8850514-16272383)x1 copy number loss See cases [RCV000512226] Chr1:8850514..16272383 [GRCh37]
Chr1:1p36.23-36.13		 likely pathogenic
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 1p36.21(chr1:12741240-15768304)x1 copy number loss not provided [RCV000736409] Chr1:12741240..15768304 [GRCh37]
Chr1:1p36.21		 uncertain significance
GRCh37/hg19 1p36.21(chr1:12975284-13706571)x1 copy number loss not provided [RCV000748904] Chr1:12975284..13706571 [GRCh37]
Chr1:1p36.21		 benign
GRCh37/hg19 1p36.21(chr1:13320708-13706571)x1 copy number loss not provided [RCV000748905] Chr1:13320708..13706571 [GRCh37]
Chr1:1p36.21		 benign
GRCh37/hg19 1p36.21(chr1:13321120-13695371)x1 copy number loss not provided [RCV000748907] Chr1:13321120..13695371 [GRCh37]
Chr1:1p36.21		 benign
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 copy number gain Global developmental delay [RCV000787285] Chr1:103343285..103455144 [GRCh37]
Chr1:1p36.22-21.1		 uncertain significance
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
GRCh37/hg19 1p36.33-36.13(chr1:849466-17525065)x1 copy number loss not provided [RCV001832902] Chr1:849466..17525065 [GRCh37]
Chr1:1p36.33-36.13		 pathogenic
NC_000001.11:g.10115497_16283149dup duplication not specified [RCV002286386] Chr1:10115497..16283149 [GRCh38]
Chr1:1p36.22-36.13		 likely pathogenic
GRCh37/hg19 1p36.31-36.13(chr1:6758933-19287770)x1 copy number loss not provided [RCV002474779] Chr1:6758933..19287770 [GRCh37]
Chr1:1p36.31-36.13		 pathogenic
NC_000001.10:g.4481271_20530242del deletion Chromosome 1p36 deletion syndrome [RCV003159574] Chr1:4481271..20530242 [GRCh37]
Chr1:1p36.32-36.12		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:153
Count of miRNA genes:148
Interacting mature miRNAs:150
Transcripts:ENST00000357367
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.


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 7 6 7 6 1 6 3 2
Below cutoff 81 163 123 63 45 59 235 95 141 7 237 81 4 64 163

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000357367   ⟹   ENSP00000349931
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl113,281,304 - 13,285,137 (-)Ensembl
RefSeq Acc Id: ENST00000614831   ⟹   ENSP00000484204
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl113,281,302 - 13,285,174 (-)Ensembl
RefSeq Acc Id: ENST00000621519   ⟹   ENSP00000484753
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl113,281,304 - 13,284,169 (-)Ensembl
RefSeq Acc Id: NM_001012276   ⟹   NP_001012276
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38113,281,304 - 13,285,137 (-)NCBI
GRCh37113,386,646 - 13,390,765 (-)RGD
Build 36113,259,233 - 13,263,352 (-)NCBI Archive
HuRef112,098,043 - 12,102,162 (+)RGD
CHM1_1113,406,546 - 13,410,379 (-)NCBI
T2T-CHM13v2.0112,722,538 - 12,726,371 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017001269   ⟹   XP_016856758
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38113,281,304 - 13,284,153 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054336534   ⟹   XP_054192509
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0112,722,538 - 12,725,387 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_001012276   ⟸   NM_001012276
- UniProtKB: A6NMC2 (UniProtKB/Swiss-Prot),   B7ZMI5 (UniProtKB/Swiss-Prot),   Q5VWM4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016856758   ⟸   XM_017001269
- Peptide Label: isoform X1
- UniProtKB: A6NMC2 (UniProtKB/Swiss-Prot),   B7ZMI5 (UniProtKB/Swiss-Prot),   Q5VWM4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000484753   ⟸   ENST00000621519
RefSeq Acc Id: ENSP00000484204   ⟸   ENST00000614831
RefSeq Acc Id: ENSP00000349931   ⟸   ENST00000357367
RefSeq Acc Id: XP_054192509   ⟸   XM_054336534
- Peptide Label: isoform X1
- UniProtKB: Q5VWM4 (UniProtKB/Swiss-Prot),   A6NMC2 (UniProtKB/Swiss-Prot),   B7ZMI5 (UniProtKB/Swiss-Prot)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q5VWM4-F1-model_v2 AlphaFold Q5VWM4 1-474 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:24074 AgrOrtholog
COSMIC PRAMEF8 COSMIC
Ensembl Genes ENSG00000182330 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
  ENSG00000278021 UniProtKB/Swiss-Prot
  ENSG00000282583 UniProtKB/Swiss-Prot
  ENSG00000283387 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000357367 ENTREZGENE
  ENST00000357367.7 UniProtKB/Swiss-Prot
  ENST00000611408.1 UniProtKB/Swiss-Prot
  ENST00000616484.4 UniProtKB/Swiss-Prot
  ENST00000621519 ENTREZGENE
  ENST00000621519.5 UniProtKB/Swiss-Prot
  ENST00000631760.1 UniProtKB/Swiss-Prot
  ENST00000632222.1 UniProtKB/Swiss-Prot
  ENST00000632952.1 UniProtKB/Swiss-Prot
  ENST00000636073.1 UniProtKB/Swiss-Prot
  ENST00000637866.1 UniProtKB/Swiss-Prot
  ENST00000637989.1 UniProtKB/Swiss-Prot
Gene3D-CATH 3.80.10.10 UniProtKB/Swiss-Prot
GTEx ENSG00000182330 GTEx
  ENSG00000278021 GTEx
  ENSG00000282583 GTEx
  ENSG00000283387 GTEx
HGNC ID HGNC:24074 ENTREZGENE
Human Proteome Map PRAMEF8 Human Proteome Map
InterPro LRR_dom_sf UniProtKB/Swiss-Prot
  PRAME_family UniProtKB/Swiss-Prot
KEGG Report hsa:391002 UniProtKB/Swiss-Prot
NCBI Gene 391002 ENTREZGENE
PANTHER PRAME FAMILY MEMBER 7-RELATED UniProtKB/Swiss-Prot
  SIMILAR TO PREFERENTIALLY EXPRESSED ANTIGEN IN MELANOMA-LIKE 3 UniProtKB/Swiss-Prot
PharmGKB PA142671145 PharmGKB
PIRSF PRAME UniProtKB/Swiss-Prot
Superfamily-SCOP RNI-like UniProtKB/Swiss-Prot
UniProt A6NMC2 ENTREZGENE
  B7ZMI5 ENTREZGENE
  PRAM8_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A6NMC2 UniProtKB/Swiss-Prot
  B7ZMI5 UniProtKB/Swiss-Prot