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    FBRSL1 fibrosin like 1 [ Homo sapiens (human) ]

    Gene ID: 57666, updated on 27-Nov-2024

    Summary

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    Official Symbol
    FBRSL1provided by HGNC
    Official Full Name
    fibrosin like 1provided by HGNC
    Primary source
    HGNC:HGNC:29308
    See related
    Ensembl:ENSG00000112787 MIM:620123; AllianceGenome:HGNC:29308
    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
    Enables RNA binding activity. [provided by Alliance of Genome Resources, Nov 2024]
    Annotation information
    Note: This gene has been reviewed for its involvement in coronavirus biology, and is locus in the vicinity of disease-associated variant(s).
    Expression
    Ubiquitous expression in spleen (RPKM 3.9), testis (RPKM 3.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FBRSL1 in Genome Data Viewer
    Location:
    12q24.33
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (132490151..132585188)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (132540214..132635194)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (133066737..133161774)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903060 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:133042035-133042599 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7378 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:133056253-133056754 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:133056755-133057254 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7379 Neighboring gene mucin 8 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7380 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5119 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5120 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:133067825-133068388 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7381 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:133114629-133115130 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:133115131-133115630 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:133127278-133127491 Neighboring gene uncharacterized LOC124903061 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5121 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5122 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7382 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7383 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7384 Neighboring gene microRNA 6763 Neighboring gene uncharacterized LOC124903062 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7385 Neighboring gene uncharacterized LOC105370094 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:133177517-133178052 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:133178053-133178587

    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. Fbrsl1 is required for heart development in Xenopus laevis and de novo variants in FBRSL1 can cause human heart defects. Berger H, et al. Dis Model Mech, 2024 Jun 1. PMID 38501224, Free PMC Article
    2. Association analysis and polygenic risk score evaluation of 38 GWAS-identified Loci in a Chinese population with Parkinson's disease. Zheng R, et al. Neurosci Lett, 2021 Sep 25. PMID 34352340
    3. BCOR modulates transcriptional activity of a subset of glucocorticoid receptor target genes involved in cell growth and mobility. Manjur ABMK, et al. J Steroid Biochem Mol Biol, 2021 Jun. PMID 33722704
    4. PCGF homologs, CBX proteins, and RYBP define functionally distinct PRC1 family complexes. Gao Z, et al. Mol Cell, 2012 Feb 10. PMID 22325352, Free PMC Article
    5. Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. Nagase T, et al. DNA Res, 2000 Aug 31. PMID 10997877

    See all (32) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Fbrsl1 is required for heart development in Xenopus laevis and de novo variants in FBRSL1 can cause human heart defects.
      Title: Fbrsl1 is required for heart development in Xenopus laevis and de novo variants in FBRSL1 can cause human heart defects.
    2. Association analysis and polygenic risk score evaluation of 38 GWAS-identified Loci in a Chinese population with Parkinson's disease.
      Title: Association analysis and polygenic risk score evaluation of 38 GWAS-identified Loci in a Chinese population with Parkinson's disease.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions.
    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

    • KIAA1545

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 

    General protein information

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    Preferred Names
    fibrosin-1-like protein
    Names
    AUTS2-like protein
    HBV X-transactivated gene 9 protein
    HBV XAg-transactivated protein 9

    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_001142641.2 → NP_001136113.1  fibrosin-1-like protein isoform 1

      See identical proteins and their annotated locations for NP_001136113.1

      Status: VALIDATED

      Source sequence(s)
      AB046765, AC079031, AC131212, BU616646
      Consensus CDS
      CCDS45010.1
      UniProtKB/Swiss-Prot
      Q86XQ1, Q9HCM7
      UniProtKB/TrEMBL
      A0A3B3IRR3
      Related
      ENSP00000396160.2, ENST00000434748.2
      Conserved Domains (1) summary
      pfam15336
      Location:587 → 791
      Auts2; Autism susceptibility gene 2 protein

    2. NM_001367871.1 → NP_001354800.1  fibrosin-1-like protein isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC079031, AC131212
      Consensus CDS
      CCDS91782.1
      UniProtKB/TrEMBL
      A0A3B3IRR3, A0A7P0Z485
      Related
      ENSP00000505341.1, ENST00000680143.1

    3. NM_001382739.1 → NP_001369668.1  fibrosin-1-like protein isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC079031, AC131212
      UniProtKB/TrEMBL
      A0A3B3IRR3
      Conserved Domains (1) summary
      pfam15336
      Location:562 → 766
      Auts2; Autism susceptibility gene 2 protein

    4. NM_001382740.1 → NP_001369669.1  fibrosin-1-like protein isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC079031, AC131212
      Conserved Domains (1) summary
      pfam15336
      Location:404 → 541
      Auts2; Autism susceptibility gene 2 protein

    5. NM_001382741.1 → NP_001369670.1  fibrosin-1-like protein isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC079031
      Conserved Domains (1) summary
      PRK10263
      Location:444 → 511
      PRK10263; DNA translocase FtsK; Provisional

    6. NM_001382742.1 → NP_001369671.1  fibrosin-1-like protein isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC079031
      Consensus CDS
      CCDS91783.1
      UniProtKB/TrEMBL
      A0A1B0GUN3
      Related
      ENSP00000490180.1, ENST00000542061.2
      Conserved Domains (1) summary
      PRK10263
      Location:345 → 412
      PRK10263; DNA translocase FtsK; Provisional

    7. NM_001382743.1 → NP_001369672.1  fibrosin-1-like protein isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC079031, AC131212

    RNA

    1. NR_168498.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC079031

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      132490151..132585188
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011534812.3 → XP_011533114.1  fibrosin-1-like protein isoform X15

      UniProtKB/TrEMBL
      A0A3B3IRR3
      Conserved Domains (1) summary
      pfam15336
      Location:505 → 751
      Auts2; Autism susceptibility gene 2 protein

    2. XM_011534807.4 → XP_011533109.1  fibrosin-1-like protein isoform X7

      UniProtKB/TrEMBL
      A0A3B3IRR3
      Conserved Domains (1) summary
      pfam15336
      Location:563 → 809
      Auts2; Autism susceptibility gene 2 protein

    3. XM_005266176.5 → XP_005266233.1  fibrosin-1-like protein isoform X11

      UniProtKB/TrEMBL
      A0A3B3IRR3
      Conserved Domains (1) summary
      pfam15336
      Location:544 → 790
      Auts2; Autism susceptibility gene 2 protein

    4. XM_011534809.4 → XP_011533111.1  fibrosin-1-like protein isoform X13

      UniProtKB/TrEMBL
      A0A3B3IRR3
      Conserved Domains (1) summary
      pfam15336
      Location:542 → 788
      Auts2; Autism susceptibility gene 2 protein

    5. XM_011534803.4 → XP_011533105.1  fibrosin-1-like protein isoform X1

      UniProtKB/TrEMBL
      A0A3B3IRR3
      Conserved Domains (1) summary
      pfam15336
      Location:604 → 850
      Auts2; Autism susceptibility gene 2 protein

    6. XM_011534808.4 → XP_011533110.1  fibrosin-1-like protein isoform X8

      UniProtKB/TrEMBL
      A0A3B3IRR3
      Conserved Domains (1) summary
      pfam15336
      Location:604 → 808
      Auts2; Autism susceptibility gene 2 protein

    7. XM_011534810.4 → XP_011533112.1  fibrosin-1-like protein isoform X14

      UniProtKB/TrEMBL
      A0A3B3IRR3
      Conserved Domains (1) summary
      pfam15336
      Location:604 → 780
      Auts2; Autism susceptibility gene 2 protein

    8. XM_011534806.4 → XP_011533108.1  fibrosin-1-like protein isoform X6

      UniProtKB/TrEMBL
      A0A3B3IRR3
      Conserved Domains (1) summary
      pfam15336
      Location:581 → 827
      Auts2; Autism susceptibility gene 2 protein

    9. XM_005266171.5 → XP_005266228.1  fibrosin-1-like protein isoform X3

      UniProtKB/TrEMBL
      A0A3B3IRR3
      Conserved Domains (1) summary
      pfam15336
      Location:585 → 831
      Auts2; Autism susceptibility gene 2 protein

    10. XM_005266177.5 → XP_005266234.1  fibrosin-1-like protein isoform X12

      UniProtKB/TrEMBL
      A0A3B3IRR3
      Related
      ENSP00000496901.1, ENST00000650108.1
      Conserved Domains (1) summary
      pfam15336
      Location:585 → 789
      Auts2; Autism susceptibility gene 2 protein

    11. XM_005266175.5 → XP_005266232.1  fibrosin-1-like protein isoform X10

      UniProtKB/TrEMBL
      A0A3B3IRR3
      Conserved Domains (1) summary
      pfam15336
      Location:562 → 808
      Auts2; Autism susceptibility gene 2 protein

    12. XM_005266173.5 → XP_005266230.1  fibrosin-1-like protein isoform X4

      UniProtKB/TrEMBL
      A0A3B3IRR3
      Conserved Domains (1) summary
      pfam15336
      Location:583 → 829
      Auts2; Autism susceptibility gene 2 protein

    13. XM_011534805.4 → XP_011533107.1  fibrosin-1-like protein isoform X5

      UniProtKB/TrEMBL
      A0A3B3IRR3
      Conserved Domains (1) summary
      pfam15336
      Location:581 → 827
      Auts2; Autism susceptibility gene 2 protein

    14. XM_047429219.1 → XP_047285175.1  fibrosin-1-like protein isoform X9

    15. XM_011534804.4 → XP_011533106.1  fibrosin-1-like protein isoform X2

      UniProtKB/TrEMBL
      A0A3B3IRR3
      Conserved Domains (1) summary
      pfam15336
      Location:603 → 849
      Auts2; Autism susceptibility gene 2 protein

    16. XM_047429220.1 → XP_047285176.1  fibrosin-1-like protein isoform X16

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      132540214..132635194
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054372690.1 → XP_054228665.1  fibrosin-1-like protein isoform X15

    2. XM_054372682.1 → XP_054228657.1  fibrosin-1-like protein isoform X7

    3. XM_054372686.1 → XP_054228661.1  fibrosin-1-like protein isoform X11

    4. XM_054372688.1 → XP_054228663.1  fibrosin-1-like protein isoform X13

    5. XM_054372676.1 → XP_054228651.1  fibrosin-1-like protein isoform X1

    6. XM_054372683.1 → XP_054228658.1  fibrosin-1-like protein isoform X8

    7. XM_054372689.1 → XP_054228664.1  fibrosin-1-like protein isoform X14

    8. XM_054372681.1 → XP_054228656.1  fibrosin-1-like protein isoform X6

    9. XM_054372678.1 → XP_054228653.1  fibrosin-1-like protein isoform X3

    10. XM_054372687.1 → XP_054228662.1  fibrosin-1-like protein isoform X12

    11. XM_054372685.1 → XP_054228660.1  fibrosin-1-like protein isoform X10

    12. XM_054372679.1 → XP_054228654.1  fibrosin-1-like protein isoform X4

    13. XM_054372680.1 → XP_054228655.1  fibrosin-1-like protein isoform X5

    14. XM_054372684.1 → XP_054228659.1  fibrosin-1-like protein isoform X9

    15. XM_054372677.1 → XP_054228652.1  fibrosin-1-like protein isoform X2

    16. XM_054372691.1 → XP_054228666.1  fibrosin-1-like protein isoform X16

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9HCM7.4 GenPept UniProtKB/Swiss-Prot:Q9HCM7

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