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    WDR93 WD repeat domain 93 [ Homo sapiens (human) ]

    Gene ID: 56964, updated on 5-Mar-2024

    Summary

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    Official Symbol
    WDR93provided by HGNC
    Official Full Name
    WD repeat domain 93provided by HGNC
    Primary source
    HGNC:HGNC:26924
    See related
    Ensembl:ENSG00000140527 MIM:619891; AllianceGenome:HGNC:26924
    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
    C1d-87; FAP297; CFAP297
    Summary
    Predicted to enable oxidoreductase activity, acting on NAD(P)H. Predicted to be involved in electron transport chain. Predicted to be part of mitochondrial respiratory chain complex I. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in testis (RPKM 3.2), prostate (RPKM 0.4) and 3 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See WDR93 in Genome Data Viewer
    Location:
    15q26.1
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (89690348..89743638)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (87446227..87499521)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (90234042..90286869)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6802 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:90215543-90215807 Neighboring gene Sharpr-MPRA regulatory region 3473 Neighboring gene perilipin 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10054 Neighboring gene peroxisomal biogenesis factor 11 alpha Neighboring gene ribosomal protein L36a pseudogene 43 Neighboring gene RNA, U6 small nuclear 132, pseudogene Neighboring gene mesoderm posterior bHLH transcription factor 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6803 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6804 Neighboring gene mitochondrial ribosomal protein L15 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6805 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:90310867-90311584 Neighboring gene uncharacterized LOC124903550 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6806 Neighboring gene mesoderm posterior bHLH transcription factor 2

    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. A FAP46 mutant provides new insights into the function and assembly of the C1d complex of the ciliary central apparatus. Brown JM, et al. J Cell Sci, 2012 Aug 15. PMID 22573824, Free PMC Article
    2. Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. Alazami AM, et al. Cell Rep, 2015 Jan 13. PMID 25558065
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039
    4. 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
    5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, 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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    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in electron transport chain IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of mitochondrial respiratory chain complex I IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    WD repeat-containing protein 93

    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.

    Genomic

    1. NG_051641.1 RefSeqGene

      Range
      5738..58565
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001284395.2 → NP_001271324.1  WD repeat-containing protein 93 isoform 2

      See identical proteins and their annotated locations for NP_001271324.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AC079075, AK097525, BC064626
      Consensus CDS
      CCDS66862.1
      UniProtKB/Swiss-Prot
      Q6P2C0
      Related
      ENSP00000453971.1, ENST00000560294.5

    2. NM_001284396.2 → NP_001271325.1  WD repeat-containing protein 93 isoform 3

      See identical proteins and their annotated locations for NP_001271325.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks multiple 3' coding exons and its 3' terminal exon extends past a splice site that is used in variant 1, resulting in a different 3' coding region and 3' UTR. The encoded isoform (3) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AC079075, BC051026, BC064626
      Consensus CDS
      CCDS73779.1
      UniProtKB/TrEMBL
      B4E3E2
      Related
      ENSP00000453022.1, ENST00000558000.1

    3. NM_020212.2 → NP_064597.1  WD repeat-containing protein 93 isoform 1

      See identical proteins and their annotated locations for NP_064597.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      BC064626
      Consensus CDS
      CCDS32326.1
      UniProtKB/Swiss-Prot
      Q6P2C0, Q8N7Y8, Q9NP89
      Related
      ENSP00000268130.7, ENST00000268130.12

    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_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      89690348..89743638
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011521794.3 → XP_011520096.1  WD repeat-containing protein 93 isoform X1

      See identical proteins and their annotated locations for XP_011520096.1

    2. XM_011521795.2 → XP_011520097.1  WD repeat-containing protein 93 isoform X1

      See identical proteins and their annotated locations for XP_011520097.1

    3. XM_006720614.2 → XP_006720677.1  WD repeat-containing protein 93 isoform X1

      See identical proteins and their annotated locations for XP_006720677.1

    4. XM_011521796.3 → XP_011520098.1  WD repeat-containing protein 93 isoform X3

    5. XM_006720615.2 → XP_006720678.1  WD repeat-containing protein 93 isoform X2

    6. XM_006720618.2 → XP_006720681.1  WD repeat-containing protein 93 isoform X6

    7. XM_011521802.2 → XP_011520104.1  WD repeat-containing protein 93 isoform X8

    8. XM_047432869.1 → XP_047288825.1  WD repeat-containing protein 93 isoform X7

    9. XM_047432871.1 → XP_047288827.1  WD repeat-containing protein 93 isoform X9

      UniProtKB/TrEMBL
      B4E3E2

    10. XM_047432868.1 → XP_047288824.1  WD repeat-containing protein 93 isoform X4

    11. XM_024449994.2 → XP_024305762.1  WD repeat-containing protein 93 isoform X5

    RNA

    1. XR_931869.2 RNA Sequence

    2. XR_931870.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      87446227..87499521
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054378463.1 → XP_054234438.1  WD repeat-containing protein 93 isoform X1

    2. XM_054378462.1 → XP_054234437.1  WD repeat-containing protein 93 isoform X1

    3. XM_054378461.1 → XP_054234436.1  WD repeat-containing protein 93 isoform X1

    4. XM_054378465.1 → XP_054234440.1  WD repeat-containing protein 93 isoform X3

    5. XM_054378464.1 → XP_054234439.1  WD repeat-containing protein 93 isoform X2

    6. XM_054378467.1 → XP_054234442.1  WD repeat-containing protein 93 isoform X6

    7. XM_054378469.1 → XP_054234444.1  WD repeat-containing protein 93 isoform X8

    8. XM_054378468.1 → XP_054234443.1  WD repeat-containing protein 93 isoform X7

    9. XM_054378470.1 → XP_054234445.1  WD repeat-containing protein 93 isoform X9

    10. XM_054378466.1 → XP_054234441.1  WD repeat-containing protein 93 isoform X5

    RNA

    1. XR_008488993.1 RNA Sequence

    2. XR_008488994.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6P2C0.1 GenPept UniProtKB/Swiss-Prot:Q6P2C0

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