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CFAP99 cilia and flagella associated protein 99 [ Homo sapiens (human) ]

Gene ID: 402160, updated on 5-Mar-2024

Summary

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Official Symbol
CFAP99provided by HGNC
Official Full Name
cilia and flagella associated protein 99provided by HGNC
Primary source
HGNC:HGNC:51180
See related
Ensembl:ENSG00000206113 AllianceGenome:HGNC:51180
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
Predicted to be located in motile cilium. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in testis (RPKM 5.5), lung (RPKM 0.5) and 1 other tissue See more
Orthologs
mouse all
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Genomic context

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Location:
4p16.3
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (2418955..2463002)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (2417709..2461661)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (2420682..2464729)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene zinc finger FYVE-type containing 28 Neighboring gene uncharacterized LOC124900649 Neighboring gene uncharacterized LOC105374352 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15165 Neighboring gene uncharacterized LOC107986249 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:2388710-2389224 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:2390450-2391184 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:2391185-2391918 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:2391919-2392652 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:2392653-2393385 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:2395333-2395503 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21170 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21171 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:2403273-2403944 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:2409813-2410318 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21172 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:2413256-2413776 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:2413777-2414297 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21173 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:2417974-2418532 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:2418533-2419091 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15166 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15167 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15168 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:2424482-2425072 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:2425073-2425662 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:2425663-2426252 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:2426253-2426841 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15169 Neighboring gene uncharacterized LOC105374353 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:2465175-2465674 Neighboring gene uncharacterized LOC107986250 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15170 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:2470739-2471311 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21175 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:2478879-2479379 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:2480295-2480819 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21176 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:2487795-2488296 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21177 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:2491261-2492041 Neighboring gene ring finger protein 4

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

GeneRIFs: Gene References Into Functions

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

General gene information

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Homology

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in motile cilium IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
cilia- and flagella-associated protein 99

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001193282.4 → NP_001180211.2  cilia- and flagella-associated protein 99

    Status: VALIDATED

    Source sequence(s)
    AL645924, KF459867
    UniProtKB/TrEMBL
    A0A087WWY8
    Related
    ENSP00000488922.2, ENST00000635017.2
    Conserved Domains (1) summary
    PTZ00121
    Location:303 → 591
    PTZ00121; MAEBL; Provisional

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    2418955..2463002
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047415685.1 → XP_047271641.1  cilia- and flagella-associated protein 99 isoform X1

    UniProtKB/Swiss-Prot
    A0A0U1RQC7, D6REC4

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    2417709..2461661
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054350021.1 → XP_054205996.1  cilia- and flagella-associated protein 99 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
D6REC4.2 GenPept UniProtKB/Swiss-Prot:D6REC4

Gene LinkOut

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