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    CFAP20DC CFAP20 domain containing [ Homo sapiens (human) ]

    Gene ID: 200844, updated on 10-Dec-2024

    Summary

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    Official Symbol
    CFAP20DCprovided by HGNC
    Official Full Name
    CFAP20 domain containingprovided by HGNC
    Primary source
    HGNC:HGNC:24763
    See related
    Ensembl:ENSG00000163689 AllianceGenome:HGNC:24763
    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
    Also known as
    C3orf67
    Expression
    Biased expression in testis (RPKM 5.2), esophagus (RPKM 1.3) and 1 other tissue See more
    Orthologs
    mouse all
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    Genomic context

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    See CFAP20DC in Genome Data Viewer
    Location:
    3p14.2
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (58716173..59050025, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (58756584..59090440, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (58727735..59035751, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20013 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:58602944-58603149 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:58614585-58615086 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:58626659-58627159 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:58626158-58626658 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:58634821-58635320 Neighboring gene family with sequence similarity 107 member A Neighboring gene FAM3D antisense RNA 1 Neighboring gene uncharacterized LOC105377109 Neighboring gene FAM3 metabolism regulating signaling molecule D Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:58792456-58792956 Neighboring gene CFAP20DC antisense RNA 1 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:58828169-58828785 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr3:58859831-58861030 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:58876285-58876824 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:58884619-58885120 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20014 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr3:58940883-58941482 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:58983704-58984903 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:59017398-59018230 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:59044085-59044335 Neighboring gene CFAP20DC divergent transcript Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:59113978-59114502 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:59114503-59115026 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20015 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14492 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14493 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20016 Neighboring gene Sharpr-MPRA regulatory region 3507 Neighboring gene SNRPB2 pseudogene 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:59599597-59599768 Neighboring gene hCG1813818

    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. SR protein kinases promote splicing of nonconsensus introns. Lipp JJ, et al. Nat Struct Mol Biol, 2015 Aug. PMID 26167880
    2. Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing. Fei T, et al. Proc Natl Acad Sci U S A, 2017 Jun 27. PMID 28611215, Free PMC Article
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. Rose JE, et al. Mol Med, 2010 Jul-Aug. PMID 20379614, Free PMC Article
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039
    5. Dual proteome-scale networks reveal cell-specific remodeling of the human interactome. Huttlin EL, et al. Cell, 2021 May 27. PMID 33961781, Free PMC Article

    See all (6) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ42117, FLJ42930, MGC48416

    General protein information

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    Preferred Names
    protein CFAP20DC
    Names
    uncharacterized protein C3orf67

    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_001351530.2 → NP_001338459.1  protein CFAP20DC isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC104300, AC104303, AC119424
      Conserved Domains (1) summary
      pfam05018
      Location:6 → 171
      DUF667; Protein of unknown function (DUF667)

    2. NM_001351531.2 → NP_001338460.1  protein CFAP20DC isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC104300, AC104303, AC119424

    3. NM_001351532.2 → NP_001338461.1  protein CFAP20DC isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC104300, AC104303, AC119424

    4. NM_001351533.2 → NP_001338462.1  protein CFAP20DC isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC104300, AC104303
      Conserved Domains (1) summary
      pfam05018
      Location:6 → 171
      DUF667; Protein of unknown function (DUF667)

    5. NM_001351534.2 → NP_001338463.1  protein CFAP20DC isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC104300
      UniProtKB/TrEMBL
      F8WF72
      Related
      ENSP00000419028.1, ENST00000479931.5
      Conserved Domains (1) summary
      pfam05018
      Location:6 → 171
      DUF667; Protein of unknown function (DUF667)

    6. NM_001394063.1 → NP_001380992.1  protein CFAP20DC isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC104300, AC104303, AC119424
      Consensus CDS
      CCDS93302.1
      UniProtKB/TrEMBL
      A0A2U3TZK7
      Related
      ENSP00000417122.2, ENST00000482387.7
      Conserved Domains (1) summary
      pfam05018
      Location:1 → 183
      DUF667; Protein of unknown function (DUF667)

    7. NM_198463.4 → NP_940865.1  protein CFAP20DC isoform 3

      See identical proteins and their annotated locations for NP_940865.1

      Status: VALIDATED

      Source sequence(s)
      AA521262, AK124111, BC050317
      Consensus CDS
      CCDS33776.1
      UniProtKB/Swiss-Prot
      Q6ZVT6
      Related
      ENSP00000295966.7, ENST00000295966.11
      Conserved Domains (1) summary
      pfam05018
      Location:7 → 46
      DUF667; Protein of unknown function (DUF667)

    RNA

    1. NR_147234.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      BC050317, BC075863
      Related
      ENST00000472469.5

    2. NR_147235.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      BC050317, BC140002
      Related
      ENST00000491845.5

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      58716173..59050025 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011533456.3 → XP_011531758.1  protein CFAP20DC isoform X5

      See identical proteins and their annotated locations for XP_011531758.1

      UniProtKB/Swiss-Prot
      B9EKV6, Q6ZV69, Q6ZVT6
      Conserved Domains (1) summary
      pfam05018
      Location:7 → 46
      DUF667; Protein of unknown function (DUF667)

    2. XM_047447655.1 → XP_047303611.1  protein CFAP20DC isoform X2

    3. XM_047447656.1 → XP_047303612.1  protein CFAP20DC isoform X8

    4. XM_005264929.3 → XP_005264986.1  protein CFAP20DC isoform X1

      Conserved Domains (1) summary
      pfam05018
      Location:6 → 171
      DUF667; Protein of unknown function (DUF667)

    5. XM_011533459.3 → XP_011531761.1  protein CFAP20DC isoform X6

      Conserved Domains (1) summary
      pfam05018
      Location:6 → 171
      DUF667; Protein of unknown function (DUF667)

    6. XM_011533458.3 → XP_011531760.1  protein CFAP20DC isoform X5

      See identical proteins and their annotated locations for XP_011531760.1

      UniProtKB/Swiss-Prot
      B9EKV6, Q6ZV69, Q6ZVT6
      Conserved Domains (1) summary
      pfam05018
      Location:7 → 46
      DUF667; Protein of unknown function (DUF667)

    7. XM_047447658.1 → XP_047303614.1  protein CFAP20DC isoform X10

    8. XM_011533457.2 → XP_011531759.1  protein CFAP20DC isoform X5

      See identical proteins and their annotated locations for XP_011531759.1

      UniProtKB/Swiss-Prot
      B9EKV6, Q6ZV69, Q6ZVT6
      Conserved Domains (1) summary
      pfam05018
      Location:7 → 46
      DUF667; Protein of unknown function (DUF667)

    9. XM_011533460.3 → XP_011531762.1  protein CFAP20DC isoform X7

    10. XM_024453386.2 → XP_024309154.1  protein CFAP20DC isoform X10

    11. XM_047447657.1 → XP_047303613.1  protein CFAP20DC isoform X9

    12. XM_047447659.1 → XP_047303615.1  protein CFAP20DC isoform X9

    13. XM_011533455.4 → XP_011531757.1  protein CFAP20DC isoform X4

      Conserved Domains (1) summary
      pfam05018
      Location:6 → 171
      DUF667; Protein of unknown function (DUF667)

    14. XM_024453385.2 → XP_024309153.1  protein CFAP20DC isoform X3

      Conserved Domains (1) summary
      pfam05018
      Location:6 → 171
      DUF667; Protein of unknown function (DUF667)

    RNA

    1. XR_001740051.3 RNA Sequence

    2. XR_007095648.1 RNA Sequence

    3. XR_001740054.3 RNA Sequence

    4. XR_001740052.2 RNA Sequence

    5. XR_007095646.1 RNA Sequence

    6. XR_001740053.3 RNA Sequence

    7. XR_940389.3 RNA Sequence

    8. XR_940388.3 RNA Sequence

    9. XR_940390.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      58756584..59090440 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054345607.1 → XP_054201582.1  protein CFAP20DC isoform X5

      UniProtKB/Swiss-Prot
      B9EKV6, Q6ZV69, Q6ZVT6

    2. XM_054345604.1 → XP_054201579.1  protein CFAP20DC isoform X2

    3. XM_054345612.1 → XP_054201587.1  protein CFAP20DC isoform X8

    4. XM_054345603.1 → XP_054201578.1  protein CFAP20DC isoform X1

    5. XM_054345610.1 → XP_054201585.1  protein CFAP20DC isoform X6

    6. XM_054345609.1 → XP_054201584.1  protein CFAP20DC isoform X5

      UniProtKB/Swiss-Prot
      B9EKV6, Q6ZV69, Q6ZVT6

    7. XM_054345614.1 → XP_054201589.1  protein CFAP20DC isoform X10

    8. XM_054345608.1 → XP_054201583.1  protein CFAP20DC isoform X5

      UniProtKB/Swiss-Prot
      B9EKV6, Q6ZV69, Q6ZVT6

    9. XM_054345611.1 → XP_054201586.1  protein CFAP20DC isoform X7

    10. XM_054345615.1 → XP_054201590.1  protein CFAP20DC isoform X10

    11. XM_054345613.1 → XP_054201588.1  protein CFAP20DC isoform X9

    12. XM_054345616.1 → XP_054201591.1  protein CFAP20DC isoform X9

    13. XM_054345606.1 → XP_054201581.1  protein CFAP20DC isoform X4

    14. XM_054345605.1 → XP_054201580.1  protein CFAP20DC isoform X3

    RNA

    1. XR_008486670.1 RNA Sequence

    2. XR_008486675.1 RNA Sequence

    3. XR_008486673.1 RNA Sequence

    4. XR_008486669.1 RNA Sequence

    5. XR_008486674.1 RNA Sequence

    6. XR_008486671.1 RNA Sequence

    7. XR_008486672.1 RNA Sequence

    8. XR_008486668.1 RNA Sequence

    9. XR_008486676.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6ZVT6.2 GenPept UniProtKB/Swiss-Prot:Q6ZVT6

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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