Aliases for FRMD1 Gene

Aliases for FRMD1 Gene

  • FERM Domain Containing 1 2 3 5
  • FERM Domain-Containing Protein 1 3 4
  • BA164L23.1 2 3
  • DKFZp434O0117 2
  • FLJ00181 2
  • FLJ40260 2
  • FLJ22615 2
  • FRMD1 5

External Ids for FRMD1 Gene

Previous GeneCards Identifiers for FRMD1 Gene

  • GC06M168138
  • GC06M168213
  • GC06M168275
  • GC06M168456
  • GC06M165885

Summaries for FRMD1 Gene

GeneCards Summary for FRMD1 Gene

FRMD1 (FERM Domain Containing 1) is a Protein Coding gene. Diseases associated with FRMD1 include Myopathy, Distal, 4. Among its related pathways are Hippo signaling pathway and Hippo signaling pathway - multiple species.

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FRMD1 Gene

Genomics for FRMD1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for FRMD1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J168102 Enhancer 0.3 Ensembl ENCODE 250.7 -1.2 -1190 0.6 FRMD1 HSALNG0055231 DACT2
GH06J168101 Promoter 0.3 EPDnew 250.7 0.0 -19 0.1 FRMD1 HSALNG0055231 DACT2
GH06J168100 Enhancer 0.3 Ensembl 250.7 +0.8 810 0.2 EZH2 FRMD1 HSALNG0055229 LOC107986548 KIF25
GH06J168033 Promoter/Enhancer 1.8 Ensembl ENCODE CraniofacialAtlas 12 +65.4 65398 4.3 NCOR1 ZNF600 ATF2 ZNF10 ZIC2 ZBTB10 HES1 FEZF1 ZNF639 MBD2 HSALNG0055225 FRMD1 KIF25-AS1 HSALNG0055222 KIF25
GH06J168079 Enhancer 0.8 Ensembl ENCODE 22.7 +22.2 22210 1.8 ZNF341 TEAD3 HNF4A GLIS1 RXRB KLF1 EGR2 MAX ZFHX2 KLF17 FRMD1 HSALNG0055228 HSALNG0055229 KIF25
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FRMD1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FRMD1

Top Transcription factor binding sites by QIAGEN in the FRMD1 gene promoter:
  • STAT5A

Genomic Locations for FRMD1 Gene

Latest Assembly
chr6:168,053,095-168,101,511
(GRCh38/hg38)
Size:
48,417 bases
Orientation:
Minus strand

Previous Assembly
chr6:168,453,775-168,482,237
(GRCh37/hg19 by Entrez Gene)
Size:
28,463 bases
Orientation:
Minus strand

chr6:168,456,425-168,482,237
(GRCh37/hg19 by Ensembl)
Size:
25,813 bases
Orientation:
Minus strand

Genomic View for FRMD1 Gene

Genes around FRMD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FRMD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FRMD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FRMD1 Gene

Proteins for FRMD1 Gene

  • Protein details for FRMD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N878-FRMD1_HUMAN
    Recommended name:
    FERM domain-containing protein 1
    Protein Accession:
    Q8N878
    Secondary Accessions:
    • B2RNV8
    • B3KUM6
    • Q5SZU7
    • Q9UFB0

    Protein attributes for FRMD1 Gene

    Size:
    549 amino acids
    Molecular mass:
    62523 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=CAB61397.2; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305};

    Alternative splice isoforms for FRMD1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FRMD1 Gene

Post-translational modifications for FRMD1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for FRMD1 Gene

Domains & Families for FRMD1 Gene

Gene Families for FRMD1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for FRMD1 Gene

GenScript: Design optimal peptide antigens:
  • FERM domain-containing protein 1 (FRMD1_HUMAN)
  • FLJ00181 protein (Q8TEL2_HUMAN)
genes like me logo Genes that share domains with FRMD1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for FRMD1 Gene

Function for FRMD1 Gene

Phenotypes From GWAS Catalog for FRMD1 Gene

Gene Ontology (GO) - Molecular Function for FRMD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 32296183
GO:0033613 activating transcription factor binding IBA 21873635
genes like me logo Genes that share ontologies with FRMD1: view
genes like me logo Genes that share phenotypes with FRMD1: view

miRNA for FRMD1 Gene

miRTarBase miRNAs that target FRMD1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FRMD1

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FRMD1 Gene

Localization for FRMD1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FRMD1 gene
Compartment Confidence
plasma membrane 3
cytoskeleton 3
nucleus 2
cytosol 2
extracellular 1
mitochondrion 0
peroxisome 0
lysosome 0
golgi apparatus 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Actin filaments (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FRMD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005856 cytoskeleton IEA --
GO:0098592 cytoplasmic side of apical plasma membrane IBA 21873635
genes like me logo Genes that share ontologies with FRMD1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for FRMD1 Gene

Pathways & Interactions for FRMD1 Gene

genes like me logo Genes that share pathways with FRMD1: view

Pathways by source for FRMD1 Gene

Gene Ontology (GO) - Biological Process for FRMD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0035332 positive regulation of hippo signaling IBA 21873635
genes like me logo Genes that share ontologies with FRMD1: view

No data available for SIGNOR curated interactions for FRMD1 Gene

Drugs & Compounds for FRMD1 Gene

No Compound Related Data Available

Transcripts for FRMD1 Gene

mRNA/cDNA for FRMD1 Gene

2 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FRMD1

Alternative Splicing Database (ASD) splice patterns (SP) for FRMD1 Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18
SP1: - - - - -
SP2: - - - - - - - - -
SP3: - - - - - - -
SP4: - - -
SP5: - - -

Relevant External Links for FRMD1 Gene

GeneLoc Exon Structure for
FRMD1

Expression for FRMD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FRMD1 Gene

mRNA differential expression in normal tissues according to GTEx for FRMD1 Gene

This gene is overexpressed in Stomach (x11.9), Colon - Transverse (x11.0), Kidney - Cortex (x6.5), Nerve - Tibial (x6.3), and Testis (x5.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for FRMD1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FRMD1

SOURCE GeneReport for Unigene cluster for FRMD1 Gene:

Hs.266746

Evidence on tissue expression from TISSUES for FRMD1 Gene

  • Spleen(4.1)
genes like me logo Genes that share expression patterns with FRMD1: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for FRMD1 Gene

Orthologs for FRMD1 Gene

This gene was present in the common ancestor of animals.

Orthologs for FRMD1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia FRMD1 29 30
  • 98.47 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia FRMD1 29
  • 77.35 (n)
-- 30
  • 72 (a)
OneToMany
-- 30
  • 47 (a)
OneToMany
Rat
(Rattus norvegicus)
Mammalia Frmd1 29
  • 74.7 (n)
Cow
(Bos Taurus)
Mammalia FRMD1 29 30
  • 71.08 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia FRMD1 30
  • 53 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 4 (a)
ManyToMany
Chicken
(Gallus gallus)
Aves FRMD1 30
  • 49 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia FRMD1 30
  • 46 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii FRMD1 (1 of 2) 30
  • 39 (a)
OneToMany
FRMD1 (2 of 2) 30
  • 34 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta ex 30
  • 9 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea frm-7 30
  • 11 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 20 (a)
OneToMany
Species where no ortholog for FRMD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Mouse (Mus musculus)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for FRMD1 Gene

ENSEMBL:
Gene Tree for FRMD1 (if available)
TreeFam:
Gene Tree for FRMD1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FRMD1: view image
Alliance of Genome Resources:
Additional Orthologs for FRMD1

Paralogs for FRMD1 Gene

(2) SIMAP similar genes for FRMD1 Gene using alignment to 4 proteins:

  • FRMD1_HUMAN
  • D6RB43_HUMAN
  • F5GXR0_HUMAN
  • H0Y9A3_HUMAN
genes like me logo Genes that share paralogs with FRMD1: view

No data available for Paralogs for FRMD1 Gene

Variants for FRMD1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FRMD1 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
rs113624371 Benign: not provided 168,060,954(-) G/T
NM_024919.5(FRMD1):c.1149C>A (p.His383Gln)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
rs114867077 Benign: not provided 168,075,294(-) G/T
NM_024919.5(FRMD1):c.255C>A (p.Asn85Lys)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
rs117499566 Benign: not provided 168,066,749(-) C/T
NM_024919.5(FRMD1):c.461+6G>A
INTRON
rs199740559 Uncertain Significance: Myopathy, distal, 4. Uncertain Significance: not specified 168,065,011(-) C/AC/T
NM_024919.5(FRMD1):c.508G>T (p.Val170Leu)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
rs41266313 Benign: not provided 168,066,768(-) C/T
NM_024919.5(FRMD1):c.448G>A (p.Gly150Arg)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for FRMD1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for FRMD1 Gene

Variant ID Type Subtype PubMed ID
dgv11062n54 CNV gain 21841781
dgv11063n54 CNV gain 21841781
dgv11064n54 CNV gain 21841781
dgv11065n54 CNV gain 21841781
dgv1853e212 CNV gain 25503493
dgv217e55 CNV gain 17911159
dgv218e55 CNV gain 17911159
dgv27e196 CNV duplication 17116639
dgv6199n100 CNV gain 25217958
dgv61n64 CNV gain 17921354
dgv791n27 CNV gain 19166990
esv1194949 CNV deletion 17803354
esv1591785 CNV deletion 17803354
esv2212981 CNV deletion 18987734
esv2258411 CNV deletion 18987734
esv23528 CNV gain+loss 19812545
esv2422263 CNV duplication 17116639
esv2663321 CNV deletion 23128226
esv2670695 CNV deletion 23128226
esv2733274 CNV deletion 23290073
esv2733275 CNV deletion 23290073
esv2733276 CNV deletion 23290073
esv2733277 CNV deletion 23290073
esv2733278 CNV deletion 23290073
esv2733279 CNV deletion 23290073
esv2733280 CNV deletion 23290073
esv2733281 CNV deletion 23290073
esv2733282 CNV deletion 23290073
esv2733283 CNV deletion 23290073
esv2733285 CNV deletion 23290073
esv2733286 CNV deletion 23290073
esv2733287 CNV deletion 23290073
esv2733288 CNV deletion 23290073
esv2733289 CNV deletion 23290073
esv2733290 CNV deletion 23290073
esv2759493 CNV gain 17122850
esv2761051 CNV gain 21179565
esv2763949 CNV gain 21179565
esv32818 CNV gain 17666407
esv3611679 CNV gain 21293372
esv999492 CNV deletion 20482838
nsv1017078 CNV gain 25217958
nsv1031275 CNV gain 25217958
nsv1073610 CNV deletion 25765185
nsv1112446 CNV deletion 24896259
nsv1126085 CNV deletion 24896259
nsv1128290 CNV deletion 24896259
nsv1142650 CNV deletion 24896259
nsv1143331 CNV deletion 24896259
nsv1148381 CNV deletion 26484159
nsv1153328 CNV deletion 26484159
nsv350028 CNV deletion 16902084
nsv442020 CNV gain 18776908
nsv464201 CNV loss 19166990
nsv509173 CNV insertion 20534489
nsv515568 CNV gain+loss 19592680
nsv605445 CNV gain 21841781
nsv605456 CNV loss 21841781
nsv8004 CNV gain 18304495
nsv830865 CNV gain 17160897
nsv830866 CNV gain 17160897

Variation tolerance for FRMD1 Gene

Residual Variation Intolerance Score: 96.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.60; 65.34% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FRMD1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FRMD1
Leiden Open Variation Database (LOVD)
FRMD1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FRMD1 Gene

Disorders for FRMD1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for FRMD1 Gene - From: GCD

Disorder Aliases PubMed IDs
myopathy, distal, 4
  • mpd4
- elite association - COSMIC cancer census association via MalaCards
Search FRMD1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for FRMD1

genes like me logo Genes that share disorders with FRMD1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FRMD1 Gene

Publications for FRMD1 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  2. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall AJ … Beck S (Nature 2003) 3 4
  3. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3
  5. Pooled-matrix protein interaction screens using Barcode Fusion Genetics. (PMID: 27107012) Yachie N … Roth FP (Molecular systems biology 2016) 3

Products for FRMD1 Gene

  • Biorbyt antibodies for FRMD1

Sources for FRMD1 Gene