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Aliases for IFT122 Gene

Aliases for IFT122 Gene

  • Intraflagellar Transport 122 2 3 5
  • WD Repeat-Containing Protein 140 3 4
  • WD Repeat-Containing Protein 10 3 4
  • WD Repeat Domain 10 2 3
  • WDR140 3 4
  • WDR10 3 4
  • SPG 3 4
  • Intraflagellar Transport 122 Homolog (Chlamydomonas) 2
  • Intraflagellar Transport Protein 122 Homolog 3
  • Intraflagellar Transport 122 Homolog 3
  • WDR10p 3
  • CED1 3
  • CED 3

External Ids for IFT122 Gene

Previous HGNC Symbols for IFT122 Gene

  • WDR10

Previous GeneCards Identifiers for IFT122 Gene

  • GC03P130642
  • GC03P129158
  • GC03P126542

Summaries for IFT122 Gene

Entrez Gene Summary for IFT122 Gene

  • This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This cytoplasmic protein contains seven WD repeats and an AF-2 domain which function by recruiting coregulatory molecules and in transcriptional activation. Mutations in this gene cause cranioectodermal dysplasia-1. A related pseudogene is located on chromosome 3. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]

GeneCards Summary for IFT122 Gene

IFT122 (Intraflagellar Transport 122) is a Protein Coding gene. Diseases associated with IFT122 include Cranioectodermal Dysplasia 1 and Short-Rib Thoracic Dysplasia 12. Among its related pathways are Intraflagellar transport and Organelle biogenesis and maintenance.

UniProtKB/Swiss-Prot for IFT122 Gene

  • Required for cilia formation during neuronal patterning. Acts as a negative regulator of Shh signaling. Required to recruit TULP3 to primary cilia (By similarity).

Additional gene information for IFT122 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IFT122 Gene

Genomics for IFT122 Gene

Regulatory Elements for IFT122 Gene

Enhancers for IFT122 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03H129460 1.5 FANTOM5 ENCODE dbSUPER 21.3 +22.0 22008 2.7 PKNOX1 ATF1 TCF12 ZNF766 GATA2 ELK1 FOS ATF7 RUNX3 NCOA1 RPL32P3 IFT122 MBD4 RHO PIR50923 GC03P129678 GC03P129673
GH03H129489 1.5 Ensembl ENCODE dbSUPER 19.6 +51.0 50992 2.9 PKNOX1 MLX ZFP64 ARID4B ZNF2 ZNF143 ZNF207 FOS ATF7 REST PLXND1 RPL32P3 IFT122 RHO RNY3P13 MBD4 PIR61564 PIR46036
GH03H129484 1.4 Ensembl ENCODE dbSUPER 20.1 +46.5 46491 3.8 PKNOX1 NFIB SIN3A ZBTB7B FOS RCOR1 RUNX3 EGR2 SMARCA5 HCFC1 RPL32P3 IFT122 ENSG00000244932 H1FX-AS1 RHO PLXND1 MBD4 RNY3P13 PIR40537 PIR61564
GH03H129412 1.3 Ensembl ENCODE 19.1 -26.2 -26167 3 PKNOX1 FOXA2 ATF1 ARNT ARID4B YY1 TCF12 SLC30A9 FOS ATF7 IFT122 RPL32P3 MBD4 RHO EFCAB12
GH03H129591 1.7 FANTOM5 ENCODE dbSUPER 14.2 +160.9 160938 19.4 HDGF PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A YBX1 FEZF1 DMAP1 RPL32P3 IFT122 LINC02021 ACAD9 H1FX-AS1 RHO ENSG00000244932 PLXND1 ENSG00000203644 H1FOO
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around IFT122 on UCSC Golden Path with GeneCards custom track

Promoters for IFT122 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000158230 -136 2201 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207 FOS SP3

Genomic Locations for IFT122 Gene

Genomic Locations for IFT122 Gene
chr3:129,440,036-129,520,507
(GRCh38/hg38)
Size:
80,472 bases
Orientation:
Plus strand
chr3:129,158,968-129,239,198
(GRCh37/hg19)

Genomic View for IFT122 Gene

Genes around IFT122 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IFT122 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IFT122 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IFT122 Gene

Proteins for IFT122 Gene

  • Protein details for IFT122 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HBG6-IF122_HUMAN
    Recommended name:
    Intraflagellar transport protein 122 homolog
    Protein Accession:
    Q9HBG6
    Secondary Accessions:
    • B3KW53
    • B4DEY9
    • B4DPW7
    • E7EQF4
    • E9PDG2
    • E9PDX2
    • G3XAB1
    • H7C3C0
    • Q53G36
    • Q8TC06
    • Q9BTB9
    • Q9BTY4
    • Q9HAT9
    • Q9HBG5
    • Q9NV68
    • Q9UF80

    Protein attributes for IFT122 Gene

    Size:
    1241 amino acids
    Molecular mass:
    141825 Da
    Quaternary structure:
    • Component of the IFT complex A (IFT-A) complex.

    Alternative splice isoforms for IFT122 Gene

neXtProt entry for IFT122 Gene

Post-translational modifications for IFT122 Gene

  • Ubiquitination at posLast=1010, posLast=5353, isoforms=11, 3, 5, 683, posLast=262262, isoforms=10, 11, 3, 4, 5, 6, 7, 8, 9271, isoforms=10, 11, 3, 4, 5, 6, 7, 8, 9291, posLast=302302, posLast=705705, posLast=753753, posLast=10041004, posLast=10331033, isoforms=10, 3, 4, 5, 6, 7, 8, 91045, isoforms=10, 3, 4, 5, 6, 7, 8, 91141, and isoforms=10, 3, 4, 5, 6, 7, 8, 91153
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for IFT122 Gene

Domains & Families for IFT122 Gene

Gene Families for IFT122 Gene

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

Protein Domains for IFT122 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with IFT122: view

No data available for UniProtKB/Swiss-Prot for IFT122 Gene

Function for IFT122 Gene

Molecular function for IFT122 Gene

UniProtKB/Swiss-Prot Function:
Required for cilia formation during neuronal patterning. Acts as a negative regulator of Shh signaling. Required to recruit TULP3 to primary cilia (By similarity).

Phenotypes From GWAS Catalog for IFT122 Gene

Gene Ontology (GO) - Molecular Function for IFT122 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 22190034
genes like me logo Genes that share ontologies with IFT122: view
genes like me logo Genes that share phenotypes with IFT122: view

Human Phenotype Ontology for IFT122 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for IFT122 Gene

MGI Knock Outs for IFT122:

Animal Model Products

CRISPR Products

miRNA for IFT122 Gene

miRTarBase miRNAs that target IFT122

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for IFT122 Gene

Localization for IFT122 Gene

Subcellular locations from UniProtKB/Swiss-Prot for IFT122 Gene

Cytoplasm. Cell projection, cilium. Cytoplasm, cytoskeleton, cilium basal body. Note=Localizes to photoreceptor connecting cilia. {ECO:0000250}.

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 IFT122 gene
Compartment Confidence
cytosol 5
nucleus 4
cytoskeleton 3
plasma membrane 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for IFT122 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA --
GO:0005856 cytoskeleton IEA --
GO:0005929 cilium IBA,TAS --
genes like me logo Genes that share ontologies with IFT122: view

Pathways & Interactions for IFT122 Gene

genes like me logo Genes that share pathways with IFT122: view

Pathways by source for IFT122 Gene

Gene Ontology (GO) - Biological Process for IFT122 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001843 neural tube closure ISS --
GO:0007227 signal transduction downstream of smoothened IEA --
GO:0007275 multicellular organism development IEA --
GO:0009953 dorsal/ventral pattern formation IEA --
GO:0010172 embryonic body morphogenesis ISS --
genes like me logo Genes that share ontologies with IFT122: view

No data available for SIGNOR curated interactions for IFT122 Gene

Drugs & Compounds for IFT122 Gene

No Compound Related Data Available

Transcripts for IFT122 Gene

Unigene Clusters for IFT122 Gene

Intraflagellar transport 122 homolog (Chlamydomonas):
Representative Sequences:

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for IFT122 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g · 1h · 1i ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13a ·
SP1: - - - -
SP2: - - - -
SP3: - - - - -
SP4: - - - - - -
SP5: - - - - - - - -
SP6: - - - - - - - -
SP7: - -
SP8:
SP9: - - - - - - - - - -
SP10: - - - - - - - -
SP11:
SP12:
SP13: - - - - - - - - - - - - - - -
SP14: - - - - -
SP15: - - - - - - - - - - - -
SP16: - - - - -
SP17:
SP18:
SP19:

ExUns: 13b ^ 14 ^ 15a · 15b ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^ 20a · 20b · 20c ^ 21 ^ 22a · 22b · 22c ^ 23a · 23b · 23c ^ 24 ^ 25 ^ 26 ^ 27 ^ 28a · 28b ^ 29 ^
SP1: - -
SP2: - -
SP3: - -
SP4: - -
SP5: - -
SP6: - -
SP7: - - - -
SP8: -
SP9:
SP10:
SP11: - - -
SP12:
SP13: - - - - - - - - - - -
SP14:
SP15:
SP16:
SP17:
SP18:
SP19: -

ExUns: 30 ^ 31 ^ 32 ^ 33 ^ 34
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:

Relevant External Links for IFT122 Gene

GeneLoc Exon Structure for
IFT122
ECgene alternative splicing isoforms for
IFT122

Expression for IFT122 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for IFT122 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for IFT122 Gene

This gene is overexpressed in Testis (x5.7).

Protein differential expression in normal tissues from HIPED for IFT122 Gene

This gene is overexpressed in Testis (28.1), Ovary (12.6), Fetal ovary (10.0), and Retina (9.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for IFT122 Gene



Protein tissue co-expression partners for IFT122 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of IFT122 Gene:

IFT122

SOURCE GeneReport for Unigene cluster for IFT122 Gene:

Hs.655284

mRNA Expression by UniProt/SwissProt for IFT122 Gene:

Q9HBG6-IF122_HUMAN
Tissue specificity: Expressed in many tissues. Predominant expression in testis and pituitary.

Evidence on tissue expression from TISSUES for IFT122 Gene

  • Nervous system(4.9)
  • Lung(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for IFT122 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cheek
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • skull
  • tooth
Thorax:
  • aorta
  • chest wall
  • clavicle
  • heart
  • heart valve
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • intestine
  • kidney
  • liver
Pelvis:
  • pelvis
  • ureter
  • urinary bladder
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • sweat gland
  • vertebrae
genes like me logo Genes that share expression patterns with IFT122: view

Primer Products

Orthologs for IFT122 Gene

This gene was present in the common ancestor of animals.

Orthologs for IFT122 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia IFT122 33 34
  • 99.5 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 92 (a)
OneToMany
-- 34
  • 82 (a)
OneToMany
-- 34
  • 76 (a)
OneToMany
-- 34
  • 61 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia IFT122 34
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ift122 33
  • 88.88 (n)
dog
(Canis familiaris)
Mammalia IFT122 34 33
  • 88.72 (n)
OneToOne
cow
(Bos Taurus)
Mammalia IFT122 33 34
  • 86.55 (n)
mouse
(Mus musculus)
Mammalia Ift122 33 16 34
  • 81.64 (n)
chicken
(Gallus gallus)
Aves IFT122 33 34
  • 76.23 (n)
lizard
(Anolis carolinensis)
Reptilia IFT122 34
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ift122 33
  • 75.53 (n)
zebrafish
(Danio rerio)
Actinopterygii ift122 33
  • 74.42 (n)
Dr.15377 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10996 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006535 33
  • 56.67 (n)
fruit fly
(Drosophila melanogaster)
Insecta Oseg1 33 34
  • 52.61 (n)
worm
(Caenorhabditis elegans)
Secernentea daf-10 34 33
  • 48.94 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 58 (a)
OneToOne
Species where no ortholog for IFT122 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)

Evolution for IFT122 Gene

ENSEMBL:
Gene Tree for IFT122 (if available)
TreeFam:
Gene Tree for IFT122 (if available)

Paralogs for IFT122 Gene

No data available for Paralogs for IFT122 Gene

Variants for IFT122 Gene

Sequence variations from dbSNP and Humsavar for IFT122 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs267607191 Pathogenic, Cranioectodermal dysplasia 1 (CED1) [MIM:218330] 129,481,546(+) CTTCG(G/T)GGACA reference, missense
rs267607192 Pathogenic, Cranioectodermal dysplasia 1 (CED1) [MIM:218330] 129,476,463(+) GAACT(C/T)CTGGG reference, missense, utr-variant-5-prime
rs267607193 Pathogenic, Cranioectodermal dysplasia 1 (CED1) [MIM:218330] 129,440,351(+) ACGTG(C/G)AGAGA upstream-variant-2KB, reference, missense, utr-variant-5-prime
rs376595844 Pathogenic 129,461,309(+) GGTAC(A/C/G/T)TTCTG intron-variant
rs397515567 Pathogenic 129,476,453(+) TTGGG(-/G)AGCAG reference, frameshift-variant, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for IFT122 Gene

Variant ID Type Subtype PubMed ID
nsv979878 CNV duplication 23825009
nsv956827 CNV deletion 24416366
nsv955346 CNV deletion 24416366
nsv591668 CNV gain 21841781
nsv3998 CNV deletion 18451855
nsv1147922 CNV deletion 26484159
nsv1073247 CNV deletion 25765185
esv3597741 CNV loss 21293372
esv3562529 CNV deletion 23714750
esv2725903 CNV deletion 23290073
esv2725902 CNV deletion 23290073
esv2725901 CNV deletion 23290073
esv27221 CNV loss 19812545
dgv4858n100 CNV gain 25217958

Variation tolerance for IFT122 Gene

Residual Variation Intolerance Score: 8.67% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.57; 56.02% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for IFT122 Gene

Human Gene Mutation Database (HGMD)
IFT122
SNPedia medical, phenotypic, and genealogical associations of SNPs for
IFT122

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IFT122 Gene

Disorders for IFT122 Gene

MalaCards: The human disease database

(12) MalaCards diseases for IFT122 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
cranioectodermal dysplasia 1
  • sensenbrenner syndrome
short-rib thoracic dysplasia 12
  • beemer-langer syndrome
internal hordeolum
hordeolum
  • boil of eyelid
chronic dacryocystitis
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

IF122_HUMAN
  • Cranioectodermal dysplasia 1 (CED1) [MIM:218330]: A disorder characterized by craniofacial, skeletal and ectodermal abnormalities. Clinical features include dolichocephaly (with or without sagittal suture synostosis), scaphocephaly, short stature, limb shortening, short ribs, narrow chest, brachydactyly, renal failure and hepatic fibrosis, small and abnormally shaped teeth, sparse hair, skin laxity and abnormal nails. {ECO:0000269 PubMed:20493458}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for IFT122

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
IFT122
genes like me logo Genes that share disorders with IFT122: view

No data available for Genatlas for IFT122 Gene

Publications for IFT122 Gene

  1. Cloning and characterization of human WDR10, a novel gene located at 3q21 encoding a WD-repeat protein that is highly expressed in pituitary and testis. (PMID: 11242542) Gross C … Messiaen L (DNA and cell biology 2001) 2 3 4 22 60
  2. Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene. (PMID: 20493458) Walczak-Sztulpa J … Kuss AW (American journal of human genetics 2010) 3 4 60
  3. TULP3 bridges the IFT-A complex and membrane phosphoinositides to promote trafficking of G protein-coupled receptors into primary cilia. (PMID: 20889716) Mukhopadhyay S … Jackson PK (Genes & development 2010) 3 4 60
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  5. Beemer-Langer syndrome is a ciliopathy due to biallelic mutations in IFT122. (PMID: 28370949) Silveira KC … Cavalcanti DP (American journal of medical genetics. Part A 2017) 3 60

Products for IFT122 Gene

Sources for IFT122 Gene

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