FREY1 (Frey regulator of sperm-oocyte fusion 1) - Rat Genome Database

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Gene: FREY1 (Frey regulator of sperm-oocyte fusion 1) Homo sapiens
Analyze
Symbol: FREY1
Name: Frey regulator of sperm-oocyte fusion 1
RGD ID: 3543119
HGNC Page HGNC:37213
Description: Predicted to enable protein-macromolecule adaptor activity. Predicted to be involved in fusion of sperm to egg plasma membrane involved in single fertilization; maintenance of protein localization in endoplasmic reticulum; and sperm-egg recognition. Predicted to be located in endoplasmic reticulum and membrane. Predicted to be active in endoplasmic reticulum membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: C11orf94; chromosome 11 open reading frame 94; Frey; hypothetical protein LOC143678; uncharacterized protein C11orf94
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381145,906,534 - 45,907,271 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1145,906,513 - 45,907,272 (-)EnsemblGRCh38hg38GRCh38
GRCh371145,928,085 - 45,928,822 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361145,884,661 - 45,885,409 (-)NCBINCBI36Build 36hg18NCBI36
Celera1146,075,690 - 46,076,438 (-)NCBICelera
Cytogenetic Map11p11.2NCBI
HuRef1145,634,937 - 45,635,685 (-)NCBIHuRef
CHM1_11145,925,505 - 45,926,253 (-)NCBICHM1_1
T2T-CHM13v2.01146,062,464 - 46,063,201 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

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

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:11181995   PMID:21873635   PMID:35960805  


Genomics

Comparative Map Data
FREY1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381145,906,534 - 45,907,271 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1145,906,513 - 45,907,272 (-)EnsemblGRCh38hg38GRCh38
GRCh371145,928,085 - 45,928,822 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361145,884,661 - 45,885,409 (-)NCBINCBI36Build 36hg18NCBI36
Celera1146,075,690 - 46,076,438 (-)NCBICelera
Cytogenetic Map11p11.2NCBI
HuRef1145,634,937 - 45,635,685 (-)NCBIHuRef
CHM1_11145,925,505 - 45,926,253 (-)NCBICHM1_1
T2T-CHM13v2.01146,062,464 - 46,063,201 (-)NCBIT2T-CHM13v2.0
Frey1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39292,213,263 - 92,213,948 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl292,212,883 - 92,216,053 (+)EnsemblGRCm39 Ensembl
GRCm38292,382,918 - 92,383,603 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl292,382,538 - 92,385,708 (+)EnsemblGRCm38mm10GRCm38
MGSCv37292,223,075 - 92,223,760 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36292,183,757 - 92,184,440 (+)NCBIMGSCv36mm8
Celera293,776,046 - 93,776,731 (+)NCBICelera
Cytogenetic Map2E1NCBI
cM Map250.99NCBI
Frey1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8398,809,792 - 98,810,544 (+)NCBIGRCr8
mRatBN7.2378,354,303 - 78,355,055 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl378,354,303 - 78,355,055 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx381,830,082 - 81,830,834 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0390,429,123 - 90,429,875 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0388,280,218 - 88,280,970 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0381,294,275 - 81,295,027 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl381,294,275 - 81,295,027 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0387,997,743 - 87,998,495 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4376,780,756 - 76,781,508 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera377,556,298 - 77,557,050 (+)NCBICelera
Cytogenetic Map3q24NCBI
Frey1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049554222,063,253 - 2,063,942 (+)NCBIChiLan1.0ChiLan1.0
FREY1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2948,114,985 - 48,118,008 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11148,121,861 - 48,124,876 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01145,860,688 - 45,863,703 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11146,352,806 - 46,353,867 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1146,352,806 - 46,353,867 (-)Ensemblpanpan1.1panPan2
FREY1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11843,516,326 - 43,517,103 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1843,516,377 - 43,517,068 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1842,243,631 - 42,245,135 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01844,171,569 - 44,173,073 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1844,172,347 - 44,173,038 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11843,655,821 - 43,657,325 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01843,208,770 - 43,210,274 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01843,941,058 - 43,942,562 (+)NCBIUU_Cfam_GSD_1.0
Frey1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494721,000,517 - 21,001,502 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365623,112,483 - 3,113,142 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365623,109,979 - 3,113,144 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FREY1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl216,563,120 - 16,565,668 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1216,563,319 - 16,564,181 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2217,949,591 - 17,952,409 (-)NCBISscrofa10.2Sscrofa10.2susScr3
FREY1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1119,434,555 - 19,435,520 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl119,434,827 - 19,435,486 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666038116,709,456 - 116,712,376 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Frey1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247672,602,411 - 2,603,399 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247672,602,665 - 2,603,489 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in FREY1
1 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 11p13-11.2(chr11:35663578-46959820)x1 copy number loss See cases [RCV000052679] Chr11:35663578..46959820 [GRCh38]
Chr11:35685126..46981371 [GRCh37]
Chr11:35641702..46937947 [NCBI36]
Chr11:11p13-11.2		 pathogenic
GRCh38/hg38 11p12-11.2(chr11:36508280-48643003)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052680]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052680]|See cases [RCV000052680] Chr11:36508280..48643003 [GRCh38]
Chr11:36529830..48664555 [GRCh37]
Chr11:36486406..48621131 [NCBI36]
Chr11:11p12-11.2		 pathogenic
GRCh38/hg38 11p11.2(chr11:44136593-46121139)x1 copy number loss See cases [RCV000052681] Chr11:44136593..46121139 [GRCh38]
Chr11:44158143..46142690 [GRCh37]
Chr11:44114719..46099266 [NCBI36]
Chr11:11p11.2		 pathogenic
NM_005456.3(MAPK8IP1):c.1395G>T (p.Met465Ile) single nucleotide variant Malignant melanoma [RCV000062218] Chr11:45903162 [GRCh38]
Chr11:45924713 [GRCh37]
Chr11:45881289 [NCBI36]
Chr11:11p11.2		 not provided
GRCh38/hg38 11p12-11.2(chr11:41118322-48643003)x1 copy number loss See cases [RCV000135405] Chr11:41118322..48643003 [GRCh38]
Chr11:41139872..48664555 [GRCh37]
Chr11:41096448..48621131 [NCBI36]
Chr11:11p12-11.2		 pathogenic
GRCh38/hg38 11p12-11.12(chr11:39179252-49135735)x1 copy number loss See cases [RCV000137391] Chr11:39179252..49135735 [GRCh38]
Chr11:39200802..49157287 [GRCh37]
Chr11:39157378..49113863 [NCBI36]
Chr11:11p12-11.12		 pathogenic
GRCh38/hg38 11p12-11.12(chr11:42727555-49135735)x3 copy number gain See cases [RCV000139422] Chr11:42727555..49135735 [GRCh38]
Chr11:42749105..49157287 [GRCh37]
Chr11:42705681..49113863 [NCBI36]
Chr11:11p12-11.12		 likely pathogenic
GRCh38/hg38 11p12-11.2(chr11:42553659-46114792)x1 copy number loss See cases [RCV000142289] Chr11:42553659..46114792 [GRCh38]
Chr11:42575209..46136343 [GRCh37]
Chr11:42531785..46092919 [NCBI36]
Chr11:11p12-11.2		 pathogenic
GRCh37/hg19 11p12-11.2(chr11:42475897-48372559)x1 copy number loss See cases [RCV000446383] Chr11:42475897..48372559 [GRCh37]
Chr11:11p12-11.2		 pathogenic
GRCh37/hg19 11p11.2(chr11:45873733-46409298)x1 copy number loss See cases [RCV000446153] Chr11:45873733..46409298 [GRCh37]
Chr11:11p11.2		 likely pathogenic
GRCh37/hg19 11p14.2-11.12(chr11:26574629-50508019)x3 copy number gain See cases [RCV000448603] Chr11:26574629..50508019 [GRCh37]
Chr11:11p14.2-11.12		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p11.2(chr11:45229091-46342834)x3 copy number gain not provided [RCV000750026] Chr11:45229091..46342834 [GRCh37]
Chr11:11p11.2		 uncertain significance
NC_000011.10:g.(?_45805782)_(45910982_?)dup duplication Leukocyte adhesion deficiency type II [RCV001032981] Chr11:45827333..45932533 [GRCh37]
Chr11:11p11.2		 uncertain significance
GRCh37/hg19 11p11.2(chr11:44266593-46123796)x4 copy number gain not provided [RCV001259092] Chr11:44266593..46123796 [GRCh37]
Chr11:11p11.2		 uncertain significance
NC_000011.9:g.(?_45827353)_(47804770_?)dup duplication Leukocyte adhesion deficiency type II [RCV001296459] Chr11:45827353..47804770 [GRCh37]
Chr11:11p11.2		 uncertain significance
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3		 pathogenic
NC_000011.9:g.(?_45827353)_(45932533_?)dup duplication Peroxisome biogenesis disorder [RCV002025400] Chr11:45827353..45932533 [GRCh37]
Chr11:11p11.2		 uncertain significance
GRCh37/hg19 11p12-11.2(chr11:40117145-46920718)x1 copy number loss not provided [RCV001836486] Chr11:40117145..46920718 [GRCh37]
Chr11:11p12-11.2		 pathogenic
NC_000011.9:g.(?_45827353)_(46401497_?)del deletion Peroxisome biogenesis disorder [RCV001953896] Chr11:45827353..46401497 [GRCh37]
Chr11:11p11.2		 pathogenic
NC_000011.9:g.(?_45827353)_(47804770_?)del deletion Leukocyte adhesion deficiency type II [RCV003119908] Chr11:45827353..47804770 [GRCh37]
Chr11:11p11.2		 pathogenic
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 copy number gain MISSED ABORTION [RCV002282973] Chr11:32799481..134938470 [GRCh37]
Chr11:11p13-q25		 pathogenic
GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3 copy number gain See cases [RCV002286338] Chr11:51581311..54891247 [GRCh37]
Chr11:11p11.2-q12.2		 pathogenic
GRCh37/hg19 11p11.2(chr11:45804897-45930554)x3 copy number gain not provided [RCV003484839] Chr11:45804897..45930554 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001080446.3(FREY1):c.124G>C (p.Ala42Pro) single nucleotide variant not provided [RCV003390039] Chr11:45906920 [GRCh38]
Chr11:45928471 [GRCh37]
Chr11:11p11.2		 likely benign
GRCh37/hg19 11p11.2(chr11:45810101-45930554)x3 copy number gain not specified [RCV003986924] Chr11:45810101..45930554 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001080446.3(FREY1):c.94C>A (p.Pro32Thr) single nucleotide variant not specified [RCV004394713] Chr11:45907152 [GRCh38]
Chr11:45928703 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001080446.3(FREY1):c.281A>G (p.Tyr94Cys) single nucleotide variant not specified [RCV004394712] Chr11:45906585 [GRCh38]
Chr11:45928136 [GRCh37]
Chr11:11p11.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:300
Count of miRNA genes:277
Interacting mature miRNAs:296
Transcripts:ENST00000449465
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
RH103702  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371145,928,186 - 45,928,496UniSTSGRCh37
Build 361145,884,762 - 45,885,072RGDNCBI36
Celera1146,075,791 - 46,076,101RGD
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map11p11.2UniSTS
HuRef1145,635,038 - 45,635,348UniSTS
GeneMap99-GB4 RH Map11159.69UniSTS


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 entire extraembryonic component
High
Medium 1 1 9 1 1 356 4
Low 345 90 597 145 505 126 649 131 834 214 459 633 30 46 282 1
Below cutoff 1550 1538 898 388 786 262 2341 1149 2188 153 452 689 127 735 1497 3

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000449465   ⟹   ENSP00000401498
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1145,906,534 - 45,907,271 (-)Ensembl
RefSeq Acc Id: ENST00000632252
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1145,906,513 - 45,907,272 (-)Ensembl
RefSeq Acc Id: NM_001080446   ⟹   NP_001073915
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381145,906,534 - 45,907,271 (-)NCBI
GRCh371145,928,085 - 45,928,833 (-)RGD
Build 361145,884,661 - 45,885,409 (-)NCBI Archive
Celera1146,075,690 - 46,076,438 (-)RGD
HuRef1145,634,937 - 45,635,685 (-)ENTREZGENE
CHM1_11145,925,505 - 45,926,253 (-)NCBI
T2T-CHM13v2.01146,062,464 - 46,063,201 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001073915 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein C9JXX5 (Get FASTA)   NCBI Sequence Viewer  
  CAJ09917 (Get FASTA)   NCBI Sequence Viewer  
  CAL68853 (Get FASTA)   NCBI Sequence Viewer  
  EAW68025 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000401498
  ENSP00000401498.1
Reference Protein Sequences
RefSeq Acc Id: NP_001073915   ⟸   NM_001080446
- Peptide Label: precursor
- UniProtKB: C9JXX5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000401498   ⟸   ENST00000449465

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-C9JXX5-F1-model_v2 AlphaFold C9JXX5 1-98 view protein structure

Promoters
RGD ID:6788561
Promoter ID:HG_KWN:12745
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001080446
Position:
Human AssemblyChrPosition (strand)Source
Build 361145,884,966 - 45,886,272 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:37213 AgrOrtholog
COSMIC FREY1 COSMIC
Ensembl Genes ENSG00000234776 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000449465 ENTREZGENE
  ENST00000449465.2 UniProtKB/Swiss-Prot
GTEx ENSG00000234776 GTEx
HGNC ID HGNC:37213 ENTREZGENE
Human Proteome Map FREY1 Human Proteome Map
InterPro DUF4733 UniProtKB/Swiss-Prot
KEGG Report hsa:143678 UniProtKB/Swiss-Prot
NCBI Gene 143678 ENTREZGENE
PANTHER PTHR37872 UniProtKB/Swiss-Prot
  SIMILAR TO RIKEN CDNA 1700029I15 UniProtKB/Swiss-Prot
Pfam DUF4733 UniProtKB/Swiss-Prot
PharmGKB PA165543255 PharmGKB
UniProt C9JXX5 ENTREZGENE, UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2022-09-26 FREY1  Frey regulator of sperm-oocyte fusion 1  C11orf94  chromosome 11 open reading frame 94  Symbol and/or name change 19259463 PROVISIONAL