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Aliases for FAM107A Gene
Aliases for FAM107A Gene
External Ids for FAM107A Gene
- HGNC: 30827
- Entrez Gene: 11170
- Ensembl: ENSG00000168309
- OMIM: 608295
- UniProtKB: O95990
Previous GeneCards Identifiers for FAM107A Gene
- GC03M058526
- GC03M058549
- GC03M058565
- GC03M058568
Summaries for FAM107A Gene
GeneCards Summary for FAM107A Gene
FAM107A (Family With Sequence Similarity 107 Member A) is a Protein Coding gene. Diseases associated with FAM107A include Neuroblastoma and Brain Cancer. An important paralog of this gene is FAM107B.
UniProtKB/Swiss-Prot Summary for FAM107A Gene
-
Stress-inducible actin-binding protein that plays a role in synaptic and cognitive functions by modulating actin filamentous (F-actin) dynamics. Mediates polymerization of globular actin to F-actin. Also binds to, stabilizes and bundles F-actin. Involved in synaptic function by regulating neurite outgrowth in an actin-dependent manner and for the acquisition of hippocampus-dependent cognitive function, such as learning and long-term memory (By similarity). Plays a role in the actin and microtubule cytoskeleton organization; negatively regulates focal adhesion (FA) assembly promoting malignant glial cell migration in an actin-, microtubule- and MAP1A-dependent manner (PubMed:20543869). Also involved in neuroblastoma G1/S phase cell cycle progression and cell proliferation inhibition by stimulating ubiquitination of NF-kappa-B subunit RELA and NF-kappa-B degradation in a COMMD1- and actin-dependent manner (PubMed:10564580, PubMed:28604741). May play a role in tumor development (PubMed:10564580).
Additional gene information for FAM107A Gene
- HGNC(30827)
- Entrez Gene(11170)
- Ensembl(ENSG00000168309)
- OMIM(608295)
- UniProtKB(O95990)
- Open Targets Platform(ENSG00000168309)
- Monarch Initiative
- Search for FAM107A at DataMed
- Search for FAM107A at HumanCyc
No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FAM107A Gene
Genomics for FAM107A Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for FAM107A Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around FAM107A on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FAM107A
- Top Transcription factor binding sites by QIAGEN in the FAM107A gene promoter:
-
- AML1a
- Evi-1
- FOXO4
- HSF2
- NRSF form 1
- NRSF form 2
- Oct-B1
- Pax-2
- Pax-2a
- Pax-2b
Genomic Locations for FAM107A Gene
Genomic Locations for FAM107A Gene
- chr3:58,564,117-58,627,610
- (GRCh38/hg38)
- Size:
- 63,494 bases
- Orientation:
- Minus strand
- chr3:58,549,844-58,613,337
- (GRCh37/hg19)
- Size:
- 63,494 bases
- Orientation:
- Minus strand
Genomic View for FAM107A Gene
Genes around FAM107A on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 3p14.3-p14.2 by HGNC
- 3p14.3-p14.2 by Entrez Gene
- 3p14.2 by Ensembl
FAM107A Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for FAM107A Gene
Proteins for FAM107A Gene
-
Protein details for FAM107A Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- O95990-F107A_HUMAN
- Recommended name:
- Actin-associated protein FAM107A
- Protein Accession:
- O95990
- B3KNQ4
- B7ZAY5
- J3KR61
- Q96NH4
Protein attributes for FAM107A Gene
- Size:
- 144 amino acids
- Molecular mass:
- 17455 Da
- Quaternary structure:
-
- Interacts with ACTB (PubMed:21969592, PubMed:28604741). Interacts with COMMD1; this interaction stabilizes COMMD1 in the nucleus (PubMed:28604741). Interacts with MAP1A (PubMed:20543869). Interacts with PRDX1 (PubMed:21969592). Interacts with F-actin (By similarity).
- Miscellaneous:
-
- [Isoform 2]: May be due to an intron retention.
Protein Expression for FAM107A Gene
Post-translational modifications for FAM107A Gene
Other Protein References for FAM107A Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for FAM107A
- Invitrogen Antibodies for FAM107A (AFLGC-FAM107A)
-
Boster Bio Antibodies for FAM107A
- Sino Biological Antibodies for FAM107A
Protein Products
-
OriGene Purified Proteins for FAM107A
- Search Origene for MassSpec and Protein Over-expression Lysates for FAM107A
- Origene Custom Protein Services for FAM107A
- antibodies-online: Show 6 available FAM107A Proteins ranked by validation data
- Compare Top FAM107A Proteins
-
Quality Products:
-
Signalway Proteins for FAM107A
-
Abcam proteins for FAM107A
Assay Products
- antibodies-online: Show 13 available FAM107A Elisa Kits ranked by validation data
- Compare Top FAM107A Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for FAM107A Gene
Domains & Families for FAM107A Gene
Gene Families for FAM107A Gene
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Suggested Antigen Peptide Sequences for FAM107A Gene
- GenScript: Design optimal peptide antigens:
-
- Protein TU3A (F107A_HUMAN)
- TU3A protein (Q6IAM1_HUMAN)
Graphical View of Domain Structure for InterPro Entry
O95990- Family:
-
- Belongs to the FAM107 family.
Function for FAM107A Gene
Molecular function for FAM107A Gene
- UniProtKB/Swiss-Prot Function:
- Stress-inducible actin-binding protein that plays a role in synaptic and cognitive functions by modulating actin filamentous (F-actin) dynamics. Mediates polymerization of globular actin to F-actin. Also binds to, stabilizes and bundles F-actin. Involved in synaptic function by regulating neurite outgrowth in an actin-dependent manner and for the acquisition of hippocampus-dependent cognitive function, such as learning and long-term memory (By similarity). Plays a role in the actin and microtubule cytoskeleton organization; negatively regulates focal adhesion (FA) assembly promoting malignant glial cell migration in an actin-, microtubule- and MAP1A-dependent manner (PubMed:20543869). Also involved in neuroblastoma G1/S phase cell cycle progression and cell proliferation inhibition by stimulating ubiquitination of NF-kappa-B subunit RELA and NF-kappa-B degradation in a COMMD1- and actin-dependent manner (PubMed:10564580, PubMed:28604741). May play a role in tumor development (PubMed:10564580).
Phenotypes From GWAS Catalog for FAM107A Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003674 | molecular_function | ND | -- |
| GO:0003779 | actin binding | IEA | -- |
| GO:0005515 | protein binding | IPI | 20543869 |
Phenotypes for FAM107A Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for FAM107A - Select products 50% OFF >
- * FAM107A CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for FAM107A
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for FAM107A
-
Santa Cruz Biotechnology (SCBT) CRISPR for FAM107A
miRNA for FAM107A Gene
- miRTarBase miRNAs that target FAM107A
-
- mmu-miR-15a-5p (MIRT011523)
- mmu-miR-466o-3p (MIRT578875)
- mmu-miR-466m-3p (MIRT578876)
- mmu-miR-466f-3p (MIRT578877)
- mmu-miR-362-3p (MIRT578878)
- mmu-miR-329-3p (MIRT578879)
- mmu-miR-466b-5p (MIRT578880)
- mmu-miR-466o-5p (MIRT578881)
- mmu-miR-466c-5p (MIRT578882)
- mmu-miR-466e-5p (MIRT578883)
- mmu-miR-466a-5p (MIRT578884)
- mmu-miR-466p-5p (MIRT578885)
- mmu-miR-1187 (MIRT578886)
- mmu-miR-466l-5p (MIRT578887)
- mmu-miR-466k (MIRT578888)
- mmu-miR-466d-5p (MIRT578889)
- mmu-miR-466i-5p (MIRT578890)
- mmu-miR-466i-3p (MIRT578891)
- mmu-miR-3059-5p (MIRT592305)
- hsa-miR-342-3p (MIRT616579)
- hsa-miR-4530 (MIRT616580)
- hsa-miR-1226-3p (MIRT616581)
- hsa-miR-1228-3p (MIRT616582)
- hsa-miR-634 (MIRT616583)
- hsa-miR-4282 (MIRT626002)
- hsa-miR-129-5p (MIRT663270)
- hsa-miR-874-3p (MIRT710258)
- hsa-miR-6749-3p (MIRT710259)
- hsa-miR-6792-3p (MIRT710260)
- hsa-miR-4691-5p (MIRT710261)
- hsa-miR-6826-3p (MIRT710262)
- hsa-miR-346 (MIRT710263)
- hsa-miR-6886-3p (MIRT710264)
- hsa-miR-938 (MIRT710265)
- hsa-miR-146b-3p (MIRT710266)
- hsa-miR-6799-3p (MIRT710267)
- hsa-miR-3173-5p (MIRT710268)
- hsa-miR-7976 (MIRT710269)
- hsa-miR-18a-3p (MIRT710270)
- hsa-miR-324-3p (MIRT710271)
- hsa-miR-1913 (MIRT710272)
- hsa-miR-3667-3p (MIRT710273)
- hsa-miR-6752-3p (MIRT710274)
- hsa-miR-6795-3p (MIRT710275)
- hsa-miR-6887-3p (MIRT710276)
- hsa-miR-219b-3p (MIRT784260)
- hsa-miR-6069 (MIRT787989)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for FAM107A
- Browse OriGene Inhibitory RNA Products For FAM107A
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FAM107A
Clone Products
- Applied Biological Materials (abm): Clones for FAM107A - Select products 50% OFF >
- * FAM107A as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for FAM107A
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for FAM107A
Cell Line Products
-
Horizon Cell Lines for FAM107A
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FAM107A Gene
Localization for FAM107A Gene
Subcellular locations from UniProtKB/Swiss-Prot for FAM107A Gene
- Nucleus. Cytoplasm, cytoskeleton, stress fiber. Cell junction, focal adhesion. Cell projection, ruffle membrane. Cell junction, synapse. Note=Colocalizes with F-actin and COMMD1 in the nucleus (PubMed:28604741). Colocalizes with MAP1A along actin stress fibers and membrane ruffles (PubMed:20543869). {ECO:0000269 PubMed:20543869, ECO:0000269 PubMed:28604741}.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| cytoskeleton | 5 |
| nucleus | 5 |
| cytosol | 2 |
| extracellular | 1 |
| mitochondrion | 1 |
| endosome | 1 |
- Nuclear speckles (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001725 | stress fiber | IDA | 20543869 |
| GO:0005634 | nucleus | IEA,IDA | 10564580 |
| GO:0005737 | cytoplasm | IEA,IDA | 28604741 |
| GO:0005856 | cytoskeleton | IEA | -- |
| GO:0005886 | plasma membrane | IEA | -- |
Pathways & Interactions for FAM107A Gene
Interacting Proteins for FAM107A Gene
Selected Interacting proteins:
O95990-F107A_HUMAN
ENSP00000419124
for FAM107A Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for FAM107A
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001558 | regulation of cell growth | IDA | 10564580 |
| GO:0007049 | cell cycle | IEA | -- |
| GO:0030041 | actin filament polymerization | ISS | -- |
| GO:0030335 | positive regulation of cell migration | IMP | 20543869 |
| GO:0031398 | positive regulation of protein ubiquitination | IMP | 28604741 |
No data available for Pathways by source for FAM107A Gene
Transcripts for FAM107A Gene
mRNA/cDNA for FAM107A Gene
- 4 REFSEQ mRNAs :
- 20 NCBI additional mRNA sequence :
- 8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000360997 2994 nts (view in UCSC)
- ENST00000394481 3465 nts (view in UCSC)
- ENST00000447756 1432 nts (view in UCSC)
- ENST00000464064 2159 nts (view in UCSC)
- ENST00000465970 580 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for FAM107A - Select products 50% OFF >
- * FAM107A CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for FAM107A
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for FAM107A
-
Santa Cruz Biotechnology (SCBT) CRISPR for FAM107A
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for FAM107A
- Browse OriGene Inhibitory RNA Products For FAM107A
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FAM107A
Clone Products
- Applied Biological Materials (abm): Clones for FAM107A - Select products 50% OFF >
- * FAM107A as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for FAM107A
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for FAM107A
| ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | · | 7c | · | 7d | ^ | 8 | ^ | 9a | · | 9b | · | 9c | · | 9d | · | 9e | ^ | 10a | · | 10b | · | 10c | · | 10d | ^ | 11a | · | 11b | · | 11c | ^ | 12a | · |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP7: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP9: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP10: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP11: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP12: | - | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
| SP13: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP14: | - | - | - | - | - | - | - | - | - |
| ExUns: | 12b | · | 12c | ^ | 13 |
|---|---|---|---|---|---|
| SP1: | |||||
| SP2: | |||||
| SP3: | |||||
| SP4: | |||||
| SP5: | |||||
| SP6: | |||||
| SP7: | |||||
| SP8: | |||||
| SP9: | |||||
| SP10: | |||||
| SP11: | |||||
| SP12: | - | - | |||
| SP13: | |||||
| SP14: |
Relevant External Links for FAM107A Gene
- GeneLoc Exon Structure for
- FAM107A
Expression for FAM107A Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Brain (Nervous System)
- Mature Choroid Plexus Cells Choroid Plexus
- Cerebellum
- Cerebral Cortex
-
Liver (Hepatobiliary System)
- Mesothelial Cells Hepatic Mesenchyme
- Induced hepatocyte-like cells(Sekiya S et. al. 2011)
- Epithelial Cells
-
Mesoderm (Gastrulation Derivatives)
- Mesothelial Cells Hepatic Mesenchyme
-
Limb (Muscoskeletal System)
- Limb Muscle Progenitor Cells Forelimb Myotome
-
Skeletal Muscle (Muscoskeletal System)
- Limb Muscle Progenitor Cells Forelimb Myotome
- Head Mesenchyme (Muscoskeletal System)
- Eye (Sensory Organs)
- Neural Ectoderm (Nervous System)
-
Spinal Cord (Nervous System)
-
Lung (Respiratory System)
mRNA differential expression in normal tissues according to GTEx for FAM107A Gene
This gene is overexpressed in Brain - Amygdala (x5.8), Brain - Hippocampus (x4.7), and Brain - Spinal cord (cervical c-1) (x4.6).
This gene is overexpressed in Brain (50.3), Prostate (12.3), and Adipocyte (6.4).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for FAM107A Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FAM107A
SOURCE GeneReport for Unigene cluster for FAM107A Gene:
Hs.506357mRNA Expression by UniProt/SwissProt for FAM107A Gene:
O95990-F107A_HUMAN
Tissue specificity:
Widely expressed (PubMed:10564580). Expressed in neurons (PubMed:20543869). Expressed in malignant glial tumors (PubMed:20543869). Expression is reduced or absent in a number of cancer cell lines (PubMed:10564580).
Evidence on tissue expression from TISSUES for FAM107A Gene
- Nervous system(5)
- Eye(3.2)
- Kidney(2.3)
- Lung(2.3)
Primer Products
-
OriGene qPCR primer pairs for FAM107A
-
OriGene qPCR primer pairs and template standards for FAM107A
Gene Expression Assay Products
No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for FAM107A Gene
Orthologs for FAM107A Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | FAM107A 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | MGC143103 31 |
|
OneToOne | |
| FAM107A 30 |
|
||||
| Dog (Canis familiaris) |
Mammalia | FAM107A 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Fam107a 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Fam107a 30 17 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | FAM107A 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | FAM107A 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | FAM107A 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | fam107a 30 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.9700 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | LOC794256 30 |
|
||
| FAM107A 31 |
|
OneToOne |
- Species where no ortholog for FAM107A was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- 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)
- Fruit Fly (Drosophila melanogaster)
- 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)
- Oppossum (Monodelphis domestica)
- 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 Squirt (Ciona savignyi)
- 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)
- Wheat (Triticum aestivum)
- Worm (Caenorhabditis elegans)
Evolution for FAM107A Gene
- ENSEMBL:
- Gene Tree for FAM107A (if available)
- TreeFam:
- Gene Tree for FAM107A (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for FAM107A: view image
Paralogs for FAM107A Gene
Variants for FAM107A Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FAM107A Gene
| SNP ID | Clinical significance and condition | Chr 03 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 751950 | Benign: not provided | 58,569,801(-) | T/C | SYNONYMOUS_VARIANT | |
| VAR_017238 | Ovarian cancer | p.Leu15Met | |||
| VAR_017238 | Renal cell carcinoma cell lines | p.Leu15Met | |||
| VAR_017239 | Renal cell carcinoma cell line | p.Pro19Leu | |||
| rs1043942 | - | p.Ala89Ser |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv4749n100 | CNV | gain | 25217958 |
| esv3561938 | CNV | deletion | 23714750 |
| esv3596253 | CNV | gain | 21293372 |
| esv3893702 | CNV | loss | 25118596 |
| nsv1109518 | CNV | deletion | 24896259 |
| nsv1116992 | CNV | deletion | 24896259 |
| nsv3839 | CNV | deletion | 18451855 |
| nsv470605 | CNV | gain | 18288195 |
| nsv524472 | CNV | gain | 19592680 |
Residual Variation Intolerance Score:
53.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
7.57;
82.51% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for FAM107A Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- FAM107A
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAM107A Gene
Disorders for FAM107A Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| neuroblastoma |
|
|
| brain cancer |
|
|
Search FAM107A in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for FAM107A
- Genetic Association Database
- (GAD)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for FAM107A Gene
Publications for FAM107A Gene
- Loss of expression of the DRR 1 gene at chromosomal segment 3p21.1 in renal cell carcinoma. (PMID: 10564580) Wang L … Smith DI (Genes, chromosomes & cancer 2000) 2 3 4
- Isolation and characterization of the novel gene, TU3A, in a commonly deleted region on 3p14.3-->p14.2 in renal cell carcinoma. (PMID: 10702698) Yamato T … Horii A (Cytogenetics and cell genetics 1999) 2 3 4
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- Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci. (PMID: 20453842) Stahl EA … Plenge RM (Nature genetics 2010) 3 41
ExternalLinks
Products for FAM107A Gene
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