FAS Gene (Protein Coding)

Fas Cell Surface Death Receptor

GC10P088969
GIFtS:
51
The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor contains a death domain. It has been shown to play a central role in the physiological regulation of programmed cell death, and has been implicated in the pathogenesis of various malignancies and diseases of the immune system. The interaction of this receptor with its ligand allows the f... See more...

Aliases for FAS Gene

Aliases for FAS Gene

  • Fas Cell Surface Death Receptor 2 3 5
  • Tumor Necrosis Factor Receptor Superfamily, Member 6 2 3
  • Tumor Necrosis Factor Receptor Superfamily Member 6 3 4
  • Fas (TNF Receptor Superfamily, Member 6) 2 3
  • Apoptosis-Mediating Surface Antigen FAS 3 4
  • TNF Receptor Superfamily Member 6 2 3
  • FASLG Receptor 3 4
  • CD95 Antigen 3 4
  • TNFRSF6 3 4
  • APT1 3 4
  • FAS1 3 4
  • Mutant Tumor Necrosis Receptor Superfamily Member 6 3
  • Apoptosis Signaling Receptor FAS 3
  • APO-1 Cell Surface Antigen 3
  • Apoptosis Antigen 1 3
  • Apo-1 Antigen 4
  • Fas AMA 3
  • ALPS1A 3
  • APO-1 3
  • FASTM 3
  • CD95 3

External Ids for FAS Gene

Previous HGNC Symbols for FAS Gene

  • FAS1
  • APT1
  • TNFRSF6

Previous GeneCards Identifiers for FAS Gene

  • GC10P090741
  • GC10P084384

Summaries for FAS Gene

Entrez Gene Summary for FAS Gene

  • The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor contains a death domain. It has been shown to play a central role in the physiological regulation of programmed cell death, and has been implicated in the pathogenesis of various malignancies and diseases of the immune system. The interaction of this receptor with its ligand allows the formation of a death-inducing signaling complex that includes Fas-associated death domain protein (FADD), caspase 8, and caspase 10. The autoproteolytic processing of the caspases in the complex triggers a downstream caspase cascade, and leads to apoptosis. This receptor has been also shown to activate NF-kappaB, MAPK3/ERK1, and MAPK8/JNK, and is found to be involved in transducing the proliferating signals in normal diploid fibroblast and T cells. Several alternatively spliced transcript variants have been described, some of which are candidates for nonsense-mediated mRNA decay (NMD). The isoforms lacking the transmembrane domain may negatively regulate the apoptosis mediated by the full length isoform. [provided by RefSeq, Mar 2011]

GeneCards Summary for FAS Gene

FAS (Fas Cell Surface Death Receptor) is a Protein Coding gene. Diseases associated with FAS include Autoimmune Lymphoproliferative Syndrome and Lymphoproliferative Syndrome. Among its related pathways are Signal transduction_JNK pathway and TP53 Regulates Transcription of Cell Death Genes. Gene Ontology (GO) annotations related to this gene include identical protein binding. An important paralog of this gene is LTBR.

UniProtKB/Swiss-Prot Summary for FAS Gene

  • Receptor for TNFSF6/FASLG. The adapter molecule FADD recruits caspase-8 to the activated receptor. The resulting death-inducing signaling complex (DISC) performs caspase-8 proteolytic activation which initiates the subsequent cascade of caspases (aspartate-specific cysteine proteases) mediating apoptosis. FAS-mediated apoptosis may have a role in the induction of peripheral tolerance, in the antigen-stimulated suicide of mature T-cells, or both. The secreted isoforms 2 to 6 block apoptosis (in vitro).

Gene Wiki entry for FAS Gene

Additional gene information for FAS Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FAS Gene

Genomics for FAS Gene

GeneHancer (GH) Regulatory Elements for FAS Gene

Promoters and enhancers for FAS 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
GH10J088988 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 785.6 +23.4 23441 8.6 ZNF24 ZBTB6 POLR2A ZNF362 MYC NFYC ETV6 RELA CEBPB ZNF652 FAS ACTA2 ENSG00000275693 ENSG00000286116 FAS-AS1 ENSG00000240996 ACTA2-AS1 CH25H
GH10J088948 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 750.4 -18.5 -18513 5.8 CTCF HLF L3MBTL2 SP1 CREB1 POLR2A PRDM10 ZNF766 ZBTB17 GABPA ACTA2 lnc-ANKRD22-1 FAS CH25H STAMBPL1 LIPF ACTA2-AS1
GH10J088968 Enhancer 0.5 Ensembl ENCODE dbSUPER 750.6 -1.1 -1103 1 FAS piR-39904-004 ACTA2 STAMBPL1
GH10J088971 Enhancer 0.2 dbSUPER 750.6 +0.6 638 0.5 FAS lnc-ANKRD22-2 ACTA2 STAMBPL1
GH10J088969 Enhancer 0.2 dbSUPER 750.6 -0.4 -362 0.4 FAS ANKRD22 piR-39904-004 ACTA2 STAMBPL1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FAS on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FAS gene promoter:
  • AP-1
  • STAT1

Genomic Locations for FAS Gene

Genomic Locations for FAS Gene
chr10:88,969,801-89,017,059
(GRCh38/hg38)
Size:
47,259 bases
Orientation:
Plus strand
chr10:90,750,288-90,775,542
(GRCh37/hg19)
Size:
25,255 bases
Orientation:
Plus strand

Genomic View for FAS Gene

Genes around FAS on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for FAS Gene

Proteins for FAS Gene

Products:

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  3. Assay

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

    Protein Symbol:
    P25445-TNR6_HUMAN
    Recommended name:
    Tumor necrosis factor receptor superfamily member 6
    Protein Accession:
    P25445
    Secondary Accessions:
    • A9UJX4
    • B6VNV4
    • Q14292
    • Q14293
    • Q14294
    • Q14295
    • Q16652
    • Q5T9P1
    • Q5T9P2
    • Q5T9P3
    • Q6SSE9

    Protein attributes for FAS Gene

    Size:
    335 amino acids
    Molecular mass:
    37732 Da
    Quaternary structure:
    • Binds DAXX. Interacts with HIPK3 (By similarity). Part of a complex containing HIPK3 and FADD (By similarity). Binds RIPK1 and FAIM2 (PubMed:7538908, PubMed:10535980). Interacts with BABAM2 and FEM1B (PubMed:10542291, PubMed:15465831). Interacts with FADD (PubMed:21109225, PubMed:19118384). Interacts directly (via DED domain) with NOL3 (via CARD domain); inhibits death-inducing signaling complex (DISC) assembly by inhibiting the increase in FAS-FADD binding induced by FAS activation (By similarity). Interacts with CALM (PubMed:24914971).

    Three dimensional structures from OCA and Proteopedia for FAS Gene

    Alternative splice isoforms for FAS Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FAS Gene

Protein Expression for FAS Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for FAS Gene

  • N- and O-glycosylated. O-glycosylated with core 1 or possibly core 8 glycans.
  • Glycosylation at Thr28, Thr40, Thr42, Thr43, Thr46, Asn118, and Asn136
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • TNR6_HUMAN (773)

Other Protein References for FAS Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for FAS

Protein Products

  • Abcam proteins for FAS

No data available for DME Specific Peptides for FAS Gene

Domains & Families for FAS Gene

Gene Families for FAS Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Candidate cardiovascular disease genes
  • CD markers
  • Disease related genes
  • Predicted membrane proteins
  • Predicted secreted proteins

Protein Domains for FAS Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FAS Gene

GenScript: Design optimal peptide antigens:
  • Truncated tumor necrosis factor receptor superfamily member 6 (B6VNV5_HUMAN)
  • FAS variant (E6Y7C3_HUMAN)
  • FAS variant (E6Y7C4_HUMAN)
  • FAS 827dupA variant (F0UWG7_HUMAN)
  • TNFRSF6 protein (Q6ICT6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P25445

UniProtKB/Swiss-Prot:

TNR6_HUMAN :
  • Contains a death domain involved in the binding of FADD, and maybe to other cytosolic adapter proteins.
Domain:
  • Contains a death domain involved in the binding of FADD, and maybe to other cytosolic adapter proteins.
genes like me logo Genes that share domains with FAS: view

Function for FAS Gene

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  1. Animal Model
  2. CRISPR
  3. miRNA
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  5. Clone
  6. Cell Line

Molecular function for FAS Gene

UniProtKB/Swiss-Prot Function:
Receptor for TNFSF6/FASLG. The adapter molecule FADD recruits caspase-8 to the activated receptor. The resulting death-inducing signaling complex (DISC) performs caspase-8 proteolytic activation which initiates the subsequent cascade of caspases (aspartate-specific cysteine proteases) mediating apoptosis. FAS-mediated apoptosis may have a role in the induction of peripheral tolerance, in the antigen-stimulated suicide of mature T-cells, or both. The secreted isoforms 2 to 6 block apoptosis (in vitro).

Phenotypes From GWAS Catalog for FAS Gene

Gene Ontology (GO) - Molecular Function for FAS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004888 transmembrane signaling receptor activity IEA --
GO:0005515 protein binding IPI 7536190
GO:0005516 calmodulin binding IEA,IDA 24914971
GO:0019900 kinase binding IPI 7538908
GO:0038023 signaling receptor activity NAS,TAS 7533181
genes like me logo Genes that share ontologies with FAS: view
genes like me logo Genes that share phenotypes with FAS: view

Human Phenotype Ontology for FAS Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FAS Gene

MGI Knock Outs for FAS:
  • Fas Fas<tm1Dlo>
  • Fas Fas<tm1Osa>
  • Fas Fas<tm1.1Cgn>

Animal Model Products

CRISPR Products

Clone Products

  • Addgene plasmids for FAS

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for FAS Gene

Localization for FAS Gene

Subcellular locations from UniProtKB/Swiss-Prot for FAS Gene

Isoform 1: Cell membrane; Single-pass type I membrane protein.
Isoform 2: Secreted.
Isoform 3: Secreted.
Isoform 4: Secreted.
Isoform 5: Secreted.
Isoform 6: Secreted.

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 FAS gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytosol 5
nucleus 4
mitochondrion 2
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FAS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005829 cytosol NAS 7533181
GO:0005886 plasma membrane TAS --
GO:0009986 cell surface IDA 22891283
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with FAS: view

Pathways & Interactions for FAS Gene

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

Pathways by source for FAS Gene

3 Sino Biological pathways for FAS Gene
1 R&D Systems pathway for FAS Gene
21 Qiagen pathways for FAS Gene
  • Akt Signaling
  • Antioxidant Action of Vitamin-C
  • Apoptosis through Death Receptors
  • Apoptotic Pathways in Synovial Fibroblasts
  • Apoptotic Pathways Triggered By HIV1
2 Cell Signaling Technology pathways for FAS Gene
1 GeneTex pathway for FAS Gene

SIGNOR curated interactions for FAS Gene

Activates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for FAS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001934 positive regulation of protein phosphorylation IMP 11096076
GO:0006915 apoptotic process TAS,IDA 9681877
GO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process TAS --
GO:0006955 immune response IEA --
GO:0007165 signal transduction TAS 9360929
genes like me logo Genes that share ontologies with FAS: view

Drugs & Compounds for FAS Gene

Products:

  1. Drug

(91) Drugs for FAS Gene - From: ClinicalTrials, ApexBio, DGIdb, IUPHAR, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ethanol Approved Pharma 3120
Choline Approved Nutra 218
Betulinic acid Investigational Pharma Full agonist, Agonist Anti-HIV and antitumor compound,pentacyclic triterpenoid 1
Fas ligand Pharma 0
Adrenergic Agents Pharma 6556

(70) Additional Compounds for FAS Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(2) ApexBio Compounds for FAS Gene

Compound Action Cas Number
Betulinic acid Anti-HIV and antitumor compound,pentacyclic triterpenoid 472-15-1
Fas C- Terminal Tripeptide AC-SER-LEU-VAL-OH 189109-90-8
genes like me logo Genes that share compounds with FAS: view

Drug Products

Transcripts for FAS Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for FAS Gene

(9) REFSEQ mRNAs :
(39) Additional mRNA sequences :
(109) Selected AceView cDNA sequences:
(21) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for FAS

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

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b
SP1: - - - - - -
SP2: - - - - - - -
SP3: - - -
SP4: - - - - - - - -
SP5: - - - - - - - - -
SP6: - - - -
SP7: - - - -
SP8: - - - - - - - - - -
SP9: - - - -
SP10:
SP11: - -
SP12: - - -

Relevant External Links for FAS Gene

GeneLoc Exon Structure for
FAS
ECgene alternative splicing isoforms for
FAS

Expression for FAS Gene

Products:

  1. Primer
  2. Gene Expression Assay

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

mRNA expression in normal human tissues for FAS Gene
mRNA expression by GTEx for FAS GenemRNA expression by BioGPS for FAS Gene

Protein differential expression in normal tissues from HIPED for FAS Gene

This gene is overexpressed in Adrenal (30.1) and Bone (7.8).

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



Protein tissue co-expression partners for FAS Gene

NURSA nuclear receptor signaling pathways regulating expression of FAS Gene:

FAS

SOURCE GeneReport for Unigene cluster for FAS Gene:

Hs.244139

mRNA Expression by UniProt/SwissProt for FAS Gene:

P25445-TNR6_HUMAN
Tissue specificity: Isoform 1 and isoform 6 are expressed at equal levels in resting peripheral blood mononuclear cells. After activation there is an increase in isoform 1 and decrease in the levels of isoform 6.

Evidence on tissue expression from TISSUES for FAS Gene

  • Blood(4.7)
  • Liver(4.6)
  • Lymph node(2.8)
  • Bone marrow(2.7)
  • Intestine(2.5)
  • Spleen(2.5)
  • Lung(2.4)
  • Nervous system(2.3)
  • Skin(2.2)
  • Eye(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for FAS Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • respiratory
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • eye
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • skull
  • tooth
Thorax:
  • lung
Abdomen:
  • kidney
  • liver
  • spleen
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • lymph node
  • red blood cell
  • skin
  • spinal cord
  • white blood cell
genes like me logo Genes that share expression patterns with FAS: view

No data available for mRNA differential expression in normal tissues for FAS Gene

Orthologs for FAS Gene

This gene was present in the common ancestor of chordates.

Orthologs for FAS Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia FAS 33 32
  • 99.1 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia FAS 33 32
  • 71.21 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia FAS 33 32
  • 65.18 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Fas 17 33 32
  • 64.72 (n)
rat
(Rattus norvegicus)
 Mammalia Fas 32
  • 63.35 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia FAS 33
  • 41 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves FAS 33 32
  • 50.06 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia FAS 33
  • 39 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia fas 32
  • 46.58 (n)
zebrafish
(Danio rerio)
 Actinopterygii fas 33 32
  • 46.58 (n)
 OneToOne
Species where no ortholog for FAS was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • 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 squirt (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 FAS Gene

ENSEMBL:
Gene Tree for FAS (if available)
TreeFam:
Gene Tree for FAS (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FAS: view image

Paralogs for FAS Gene

Paralogs for FAS Gene

(2) SIMAP similar genes for FAS Gene using alignment to 8 proteins:

  • TNR6_HUMAN
  • E6Y7C3_HUMAN
  • E6Y7C4_HUMAN
  • F0UWG7_HUMAN
  • H7C5Z8_HUMAN
  • Q9UET8_HUMAN
  • S5PSV7_HUMAN
  • S5PZ57_HUMAN
genes like me logo Genes that share paralogs with FAS: view

Variants for FAS Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for FAS Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs1051070 benign, Autoimmune lymphoproliferative syndrome 89,015,015(+) A/T 3_prime_UTR_variant, non_coding_transcript_variant
rs113022949 likely-benign, Autoimmune lymphoproliferative syndrome 89,003,031(+) T/A/C coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs121913076 pathogenic, Autoimmune lymphoproliferative syndrome, type 1a, Autoimmune lymphoproliferative syndrome 1A (ALPS1A) [MIM:601859] 89,014,163(+) A/C 3_prime_UTR_variant, coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs121913077 pathogenic, Autoimmune lymphoproliferative syndrome, type 1a 89,014,259(+) C/T 3_prime_UTR_variant, coding_sequence_variant, non_coding_transcript_variant, stop_gained
rs121913078 pathogenic, Autoimmune lymphoproliferative syndrome, type 1a, Autoimmune lymphoproliferative syndrome 1A (ALPS1A) [MIM:601859] 89,008,915(+) C/T coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant

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

Variant ID Type Subtype PubMed ID
esv3624139 CNV gain 21293372
esv3624143 CNV loss 21293372
esv3624144 CNV gain 21293372
nsv551841 CNV loss 21841781
nsv831943 CNV gain 17160897

Variation tolerance for FAS Gene

Residual Variation Intolerance Score: 69.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.34; 41.63% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FAS Gene

Human Gene Mutation Database (HGMD)
FAS
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FAS

SNP Genotyping and Copy Number Assay Products

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

Disorders for FAS Gene

MalaCards: The human disease database

(67) MalaCards diseases for FAS Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
autoimmune lymphoproliferative syndrome
  • css
lymphoproliferative syndrome
  • lymphoproliferative disorder
silicosis
  • pneumoconiosis due to silicates
dianzani autoimmune lymphoproliferative disease
  • dald
caplan's syndrome
  • caplan syndrome
- elite association - COSMIC cancer census association via MalaCards
Search FAS in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TNR6_HUMAN
  • Autoimmune lymphoproliferative syndrome 1A (ALPS1A) [MIM:601859]: A disorder of apoptosis that manifests in early childhood and results in the accumulation of autoreactive lymphocytes. It is characterized by non-malignant lymphadenopathy with hepatosplenomegaly, and autoimmune hemolytic anemia, thrombocytopenia and neutropenia. {ECO:0000269 PubMed:10090885, ECO:0000269 PubMed:10340403, ECO:0000269 PubMed:10515860, ECO:0000269 PubMed:11418480, ECO:0000269 PubMed:17336828, ECO:0000269 PubMed:20935634, ECO:0000269 PubMed:7540117, ECO:0000269 PubMed:8929361, ECO:0000269 PubMed:9028321, ECO:0000269 PubMed:9028957, ECO:0000269 PubMed:9322534, ECO:0000269 PubMed:9821419, ECO:0000269 PubMed:9927496}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for FAS

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with FAS: view

No data available for Genatlas for FAS Gene

Publications for FAS Gene

  1. Evaluation of functional single nucleotide polymorphisms of different genes coding for the immunoregulatory molecules in patients with monoclonal large granular lymphocyte lymphocytosis. (PMID: 18361934) Garrido P … Ruiz-Cabello F (Human immunology 2008) 3 23 43 56
  2. Disparate distribution of 16 candidate single nucleotide polymorphisms among racial and ethnic groups of pediatric heart transplant patients. (PMID: 17198275) Girnita DM … Zeevi A (Transplantation 2006) 3 23 43 56
  3. A death receptor-associated anti-apoptotic protein, BRE, inhibits mitochondrial apoptotic pathway. (PMID: 15465831) Li Q … Chui YL (The Journal of biological chemistry 2004) 3 4 23 56
  4. Lack of replication of association findings in complex disease: an analysis of 15 polymorphisms in prior candidate genes for sporadic Alzheimer's disease. (PMID: 11436125) Prince JA … Brookes AJ (European journal of human genetics : EJHG 2001) 3 23 43 56
  5. The development of lymphomas in families with autoimmune lymphoproliferative syndrome with germline Fas mutations and defective lymphocyte apoptosis. (PMID: 11418480) Straus SE … Lenardo MJ (Blood 2001) 3 4 43 56

ExternalLinks

View latest publications for FAS gene in Mastermind

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