FAM27E3 (family with sequence similarity 27 member E3) - Rat Genome Database

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Gene: FAM27E3 (family with sequence similarity 27 member E3) Homo sapiens
Analyze
Symbol: FAM27E3
Name: family with sequence similarity 27 member E3
RGD ID: 2299011
HGNC Page HGNC:28655
Description: INTERACTS WITH acetylsalicylic acid; acrylamide; aflatoxin B1
Type: ncrna (Ensembl: lncRNA)
RefSeq Status: VALIDATED
Previously known as: LOC107987075; MGC149559; MGC42630; uncharacterized LOC107987075
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38967,717,498 - 67,719,179 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl967,717,411 - 67,719,178 (-)EnsemblGRCh38hg38GRCh38
GRCh37967,784,944 - 67,786,625 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36967,374,675 - 67,376,308 (-)NCBINCBI36Build 36hg18NCBI36
Cytogenetic Map9q21.11NCBI
HuRef939,607,154 - 39,608,836 (+)NCBIHuRef
CHM1_1967,933,159 - 67,934,840 (-)NCBICHM1_1
T2T-CHM13v2.0979,500,184 - 79,501,865 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

Molecular Function

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:15489334   PMID:16189514   PMID:18482256   PMID:21244100   PMID:25036637   PMID:25416956   PMID:27880917  


Genomics


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3 copy number gain See cases [RCV000135344] Chr9:13997..68401065 [GRCh38]
Chr9:13997..71015981 [GRCh37]
Chr9:3997..70205801 [NCBI36]
Chr9:9p24.3-q21.11		 pathogenic
GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3 copy number gain See cases [RCV000135954] Chr9:193412..74615913 [GRCh38]
Chr9:204193..77230829 [GRCh37]
Chr9:194193..76420649 [NCBI36]
Chr9:9p24.3-q21.13		 pathogenic
GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3 copy number gain See cases [RCV000136152] Chr9:193412..70630731 [GRCh38]
Chr9:220253..73245647 [GRCh37]
Chr9:210253..72435467 [NCBI36]
Chr9:9p24.3-q21.12		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3		 pathogenic
GRCh38/hg38 9p22.2-q21.11(chr9:18344605-68257015) copy number gain See cases [RCV000140448] Chr9:18344605..68257015 [GRCh38]
Chr9:18344603..68995221 [GRCh37]
Chr9:18334603..68285041 [NCBI36]
Chr9:9p22.2-q21.11		 pathogenic
GRCh38/hg38 9p21.1-q21.11(chr9:31426827-68257015)x3 copy number gain See cases [RCV000141663] Chr9:31426827..68257015 [GRCh38]
Chr9:31426825..68330127 [GRCh37]
Chr9:31416825..67819947 [NCBI36]
Chr9:9p21.1-q21.11		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4 copy number gain See cases [RCV000141904] Chr9:203861..88130444 [GRCh38]
Chr9:203861..90745359 [GRCh37]
Chr9:193861..89935179 [NCBI36]
Chr9:9p24.3-q22.1		 pathogenic
GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3 copy number gain See cases [RCV000143012] Chr9:193412..79877816 [GRCh38]
Chr9:204104..82492731 [GRCh37]
Chr9:194104..81682551 [NCBI36]
Chr9:9p24.3-q21.31		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:393
Count of miRNA genes:338
Interacting mature miRNAs:358
Transcripts:ENST00000455764
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 entire extraembryonic component
High
Medium 25 1 65 4 69 5 26 17 99 11 112 66 1
Low 2109 2145 1016 149 898 45 2921 1079 3456 165 1073 1301 112 781 1796 1
Below cutoff 214 812 381 259 610 205 1320 1048 109 5 75 92 56 419 946 3

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000418795
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl967,717,411 - 67,719,178 (-)Ensembl
RefSeq Acc Id: NR_103833
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38967,717,498 - 67,719,179 (-)NCBI
HuRef939,607,154 - 39,608,836 (+)NCBI
CHM1_1967,933,159 - 67,934,840 (-)NCBI
T2T-CHM13v2.0979,500,184 - 79,501,865 (-)NCBI
Sequence:
Protein Sequences
GenBank Protein AAH32035 (Get FASTA)   NCBI Sequence Viewer  
  AAI19676 (Get FASTA)   NCBI Sequence Viewer  
  Q08E93 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q08E93-F1-model_v2 AlphaFold Q08E93 1-113 view protein structure


Additional Information

Database Acc Id Source(s)
COSMIC FAM27E3 COSMIC
Ensembl Genes ENSG00000274026 Ensembl, ENTREZGENE
Ensembl Transcript ENST00000418795 ENTREZGENE
GTEx ENSG00000274026 GTEx
HGNC ID HGNC:28655 ENTREZGENE
Human Proteome Map FAM27E3 Human Proteome Map
InterPro FAM27D/FAM27E UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 100131997 ENTREZGENE
Pfam FAM27 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA145148939 PharmGKB
RNAcentral URS000075C54C RNACentral
UniProt A0A158RFU5_HUMAN UniProtKB/TrEMBL
  F27E3_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2021-02-25 FAM27E3  family with sequence similarity 27 member E3  LOC107987075  uncharacterized LOC107987075  Data merged from RGD:38609897 737654 PROVISIONAL
2015-11-24 FAM27E3  family with sequence similarity 27 member E3    family with sequence similarity 27, member E3  Symbol and/or name change 5135510 APPROVED